Welcome to IthaCNVs
Copy number variants (CNVs), mainly major deletions and duplications, within the β-globin and
α-globin gene cluster causing approximately 10% and 95% of the β- and α-thalassaemia respectively.
The IthaCNVs tool is a novel ITHANET tool that provide significant information about large deletions/duplications.
The tool allows the user to enter:
- Specific breakpoints (single base/exact location) to retrieve the corresponding known CNV
- Approximated breakpoints (range of the 3’ and 5’ breakpoints) to retrieve a candidate list of known CNVs
- MLPA probes to retrieve a specific or a list of known CNVs
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Locations of the breakpoints and MLPA probes are based on GRCh38.p13.
The SALSA MLPA Probemix P102-D1 HBB and P140-C1 HBA kit were used.
A tool for converting genome coordinates and genome annotation files between assemblies can be found here.
The individual locus and chromosome breakpoint positions can be viewed by expanding () each filtering results row.
The SALSA MLPA Probemix P102-D1 HBB and P140-C1 HBA kit were used.
A tool for converting genome coordinates and genome annotation files between assemblies can be found here.
The individual locus and chromosome breakpoint positions can be viewed by expanding () each filtering results row.
| IthaID | Common name | Genes | 5' Breakpoints | 3' Breakpoints | HGVS name | Functionality | Locus 5' BP from | Locus 5' BP to | Locus 3' BP from | Locus 3' BP to | Chromosome 5' BP from | Chromosome 5' BP to | Chromosome 3' BP from | Chromosome 3' BP to | Chromosome | Locus | Edit | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Type | MLPA Probes | Type | HGVS name | Functionality | Locus 5' BP from | Locus 5' BP to | Locus 3' BP from | Locus 3' BP to | Chromosome 5' BP from | Chromosome 5' BP to | Chromosome 3' BP from | Chromosome 3' BP to | Chromosome | Locus | ||||||||||
| Last normal | 1st affected | Last affected | 1st normal | HGVS name | Functionality | Locus 5' BP from | Locus 5' BP to | Locus 3' BP from | Locus 3' BP to | Chromosome 5' BP from | Chromosome 5' BP to | Chromosome 3' BP from | Chromosome 3' BP to | |||||||||||
| 110 | IVS I-5 (G>A) + Corfu deletion | HBB, HBD | Exact | HBD-3 (346nt) | HBD-1 (312nt) | HBD-up (420nt) | HBBP1-3 (382nt) | Exact | NG_000007.3:g.57237_64443del7207; HBB:c.92+5G>A | Causative | 57237 | No other BP defined | No other BP defined | 64443 | 5233173 | No other BP defined | No other BP defined | 5240379 | 11 | β-locus | ||||
| 209 | IVS II-535 - CD 108 (+23, -310, +28) | HBB | Exact | No probe | No probe | No probe | No probe | Exact | HBB:c.[316-300_327delinsCAGGTGCCATCTGTCACCCTTTTCTTTG;316-316_316-315insAATATATTTTTAATATACTTTTT] | Causative | 71590 | No other BP defined | No other BP defined | 71899 | 5225717 | No other BP defined | No other BP defined | 5226026 | 11 | β-locus | This is a special case where MLPA probes could not be detected due to the size of the deletion. | |||
| 281 | IVS I [3 end] -44 bp | HBB | Exact | No probe | No probe | No probe | No probe | Exact | HBB:c.76_92+27del | Causative | 70670 | No other BP defined | No other BP defined | 70713 | 5226903 | No other BP defined | No other BP defined | 5226946 | 11 | β-locus | This is a special case where MLPA probes could not be detected due to the size of the deletion. | |||
| 282 | 105 bp deletion | HBB | Exact | HBB-intr.1 (154nt) | HBB-1 (WT) c.20A>T) (220nt) | HBB-1 (189nt) | HBB-1 (148nt) | Exact | HBB:c.-74_31del | Causative | 70521 | No other BP defined | No other BP defined | 70625 | 5226991 | No other BP defined | No other BP defined | 5227093 | 11 | β-locus | ||||
| 283 | 290 bp deletion | HBB | Exact | HBB-intr.2 (196nt) | HBB-intr.1 (154nt) | HBB-1 (148nt) | HBB-up (365nt) | Exact | HBB:c.-176_92+25del | Causative | 70419 | No other BP defined | No other BP defined | 70708 | 5226908 | No other BP defined | No other BP defined | 5227197 | 11 | β-locus | ||||
| 284 | 468 bp deletion | HBB | Exact | HBB-1 (WT) c.20A>T) (220nt) | HBB-1 (189nt) | HBB-1 (148nt) | HBB-up (365nt) | Exact | NG_000007.3:g.70070_70537del | Causative | 70070 | No other BP defined | No other BP defined | 70537 | 5227079 | No other BP defined | No other BP defined | 5227546 | 11 | β-locus | ||||
| 285 | Black | HBB | Exact | HBB-intr.1 (154nt) | HBB-1 (WT) c.20A>T) (220nt) | HBB-1 (148nt) | HBB-up (365nt) | Exact | HBB:c.-504_28del | Causative | 70091 | No other BP defined | No other BP defined | 70622 | 5226994 | No other BP defined | No other BP defined | 5227517 | 11 | β-locus | ||||
| 286 | 619 bp deletion | HBB | Exact | HBB-down (173nt) | HBB-down (208nt) | HBB-3 (166nt) | HBB-intr.2 (196nt) | Exact | NG_000007.3:g.71609_72227del619 | Causative | 71609 | No other BP defined | No other BP defined | 72227 | 5225389 | No other BP defined | No other BP defined | 5226007 | 11 | β-locus | ||||
| 288 | Black, British | HBB | Exact | HBB-3 (166nt) | HBB-intr.2 (196nt) | HBB-1 (148nt) | HBB-up (365nt) | Exact | NG_000007.3:g.70060_71452del1393 | Causative | 70060 | No other BP defined | No other BP defined | 71452 | 5226163 | No other BP defined | No other BP defined | 5227556 | 11 | β-locus | ||||
| 289 | Croatian | HBB | Exact | HBB-3 (166nt) | HBB-intr.2 (196nt) | HBB-up (365nt) | HBB-up (337nt) | Exact | NG_000007.3:g.69561_71164del1604 | Causative | 69561 | No other BP defined | No other BP defined | 71164 | 5226452 | No other BP defined | No other BP defined | 5228055 | 11 | β-locus | ||||
| 290 | Thai | HBB | Exact | HBB-down (274nt) | HBB-down (173nt) | HBB-1 (148nt) | HBB-up (365nt) | Exact | NG_000007.3:g.69826_73313del | Causative | 69826 | No other BP defined | No other BP defined | 73313 | 5224303 | No other BP defined | No other BP defined | 5227790 | 11 | β-locus | ||||
| 291 | Czech | HBB | Exact | HBB-3 (166nt) | HBB-intr.2 (196nt) | HBB-up (337nt) | HBD-3 (391nt) | Exact | NG_000007.3:g.67258_71501del | Causative | 67258 | No other BP defined | No other BP defined | 71501 | 5226115 | No other BP defined | No other BP defined | 5230358 | 11 | β-locus | ||||
| 292 | Turk | HBB | Exact | HBB-down (274nt) | HBB-down (173nt) | HBB-up (337nt) | HBD-3 (391nt) | Exact | NG_000007.3:g.[52524_60162del;66278_73952del] | Causative | 66278 | No other BP defined | No other BP defined | 73952 | 5223664 | No other BP defined | No other BP defined | 5231338 | 11 | β-locus | ||||
| 293 | Cape Verdean | HBB | Exact | HBB-down (274nt) | HBB-down (173nt) | HBB-3 (166nt) | HBB-intr.2 (196nt) | Exact | NG_000007.3:g.71548_79271del | Causative | 71548 | No other BP defined | No other BP defined | 79271 | 5218334 | No other BP defined | No other BP defined | 5226068 | 11 | β-locus | ||||
| 294 | Asian Indian | HBB | Range | HBB-down (274nt) | HBB-down (173nt) | HBB-up (337nt) | HBD-3 (391nt) | Range | NG_000007.3:g.(67531_67533)_(77874_77876)del | Causative | 67531 | 67533 | 77874 | 77876 | 5219740 | 5219742 | 5230083 | 5230085 | 11 | β-locus | ||||
| 295 | Australian (Anglo Saxon) | HBB | Exact | OR51V1-1 (486nt) | HBB-down (274nt) | HBB-1 (148nt) | HBB-up (365nt) | Exact | NC_000011.10:g.5215894_5227926del | Causative | 69709 | No other BP defined | No other BP defined | Out of locus | 5215894 | No other BP defined | No other BP defined | 5227926 | 11 | β-locus | ||||
| 296 | Dutch | HBB | Exact | HBB-down (274nt) | HBB-down (173nt) | HBB-up (365nt) | HBB-up (337nt) | Exact | NG_000007.3:g.68071_80682del12612 | Causative | 68071 | No other BP defined | No other BP defined | 80682 | 5216934 | No other BP defined | No other BP defined | 5229545 | 11 | β-locus | ||||
| 298 | Filipino | HBB | Exact | OR52A5-1 (227nt) | OR52A1-1 (355nt) | HBB-up (337nt) | HBD-3 (391nt) | Exact | NC_000011.10:g.5112882 _5231358del | Causative | 66258 | No other BP defined | No other BP defined | Out of locus | 51112882 | No other BP defined | No other BP defined | 5231358 | 11 | β-locus | ||||
| 299 | Italian | HBB | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 300 | -α3.7 (type I) | α3.7 hybrid, HBA1, HBA2 | Exact | HBA1&2-1 (214nt) | HBA2-intr.2 (160nt) | HBA1-intr.2 (165nt) | HBA1-intr.2 (250nt) | Exact | NG_000006.1:g.34247_38050del | Causative | 34247 | No other BP defined | No other BP defined | 38050 | 173384 | No other BP defined | No other BP defined | 177187 | 16 | α-locus | ||||
| 301 | -α4.2 | HBA2 | Exact | HBM region-up (184nt) | HBA2-up (391nt) | HBA1&2-3 (172nt) | HBA1-up (190nt) | Exact | NC_000016.10:g.169818_174075del | Causative | 30681 | No other BP defined | No other BP defined | 34938 | 169818 | No other BP defined | No other BP defined | 174075 | 16 | α-locus | ||||
| 302 | -α2.4 | HBA1 | Exact | HBA1-up (337nt) | HBA1-up (226nt) | HBA1-down (283nt) | HBA1-down (310nt) | Exact | NG_000006.1:g.36860_39252del | Causative | 36860 | No other BP defined | No other BP defined | 39252 | 175997 | No other BP defined | No other BP defined | 178389 | 16 | α-locus | ||||
| 303 | -α2.7 | HBA1 | Exact | HBA1-up (337nt) | HBA1-up (226nt) | HBA1-down (283nt) | HBA1-down (310nt) | Exact | NG_000006.1:g.36664_39364del2701 | Causative | 36664 | No other BP defined | No other BP defined | 39364 | 175801 | No other BP defined | No other BP defined | 178501 | 16 | α-locus | ||||
| 304 | -α3.5 | HBA1 | Exact | HBA1-up (226nt) | HBA1-intr.2 (165nt) | HBA1-down (310nt) | HBQ1-3 (400nt) | Exact | NG_000006.1:g.37464_40964del3501 | Causative | 37464 | No other BP defined | No other BP defined | 40964 | 176601 | No other BP defined | No other BP defined | 180101 | 16 | α-locus | ||||
| 305 | -α5.3 | HBA2 | Exact | HBM region-up (184nt) | HBA2-up (391nt) | HBA1&2-1 (214nt) | HBA2-intr.2 (160nt) | Exact | NG_000006.1:g.28684_33930del5246 | Causative | 28684 | No other BP defined | No other BP defined | 33930 | 167821 | No other BP defined | No other BP defined | 173066 | 16 | α-locus | ||||
| 306 | -α7.9 | HBA2 | Exact | HBM region-up (184nt) | HBA2-up (391nt) | HBA1-up (256nt) | HBA1-up (337nt) | Exact | NG_000006.1:g.28322_36260del | Causative | 28322 | No other BP defined | No other BP defined | 36260 | 167459 | No other BP defined | No other BP defined | 175397 | 16 | α-locus | ||||
| 307 | -α18 | HBA1 | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 16 | α-locus | ||||
| 309 | --SEA | HBA1, HBA2 | Exact | HBZP1 region-down (292nt) | HBM region-up (184nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.165401_184701del | Causative | 26264 | No other BP defined | No other BP defined | Out of locus | 165401 | No other BP defined | No other BP defined | 184701 | 16 | α-locus | ||||
| 310 | --THAI | HBA1, HBA2, HBZ | Exact | HBZ region-up (346nt) | HBZ-1 (436nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.149863_183312del | Causative | 10726 | No other BP defined | No other BP defined | Out of locus | 149863 | No other BP defined | No other BP defined | 183312 | 16 | α-locus | ||||
| 311 | --FIL | HBA1, HBA2, HBZ | Exact | HBZ region-up (346nt) | HBZ-1 (436nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.151641_182316del | Causative | 12504 | No other BP defined | No other BP defined | Out of locus | 151641 | No other BP defined | No other BP defined | 182316 | 16 | α-locus | ||||
| 312 | --MED I | HBA1, HBA2 | Range | HBZP1 region-down (292nt) | HBM region-up (184nt) | HBA1-down (310nt) | HBQ1-3 (400nt) | Range | NG_000006.1:g.(23641_23662)_(41183_41203)del | Causative | 23641 | 23662 | 41183 | 41203 | 162778 | 162799 | 180320 | 180340 | 16 | α-locus | ||||
| 313 | --MED II | HBA1, HBA2, HBZ | Range | HBZ region-up (364nt) | HBZ region-up (346nt) | HBA1-down (310nt) | HBQ1-3 (400nt) | Range | NG_000006.1:g.(7740_9712)_(39907_41156)del | Causative | 7740 | 9712 | 39907 | 41156 | 146877 | 148849 | 179044 | 180293 | 16 | α-locus | ||||
| 314 | -(α)20.5 | HBA1, HBA2 | Range | HBZ-1 (436nt) | HBZP1 region-down (292nt) | HBA1-up (226nt) | HBA1-intr.2 (165nt) | Range | NG_000006.1:g.(18148_18200)_(37868_37901)del | Causative | 18148 | 18200 | 37868 | 37901 | 157285 | 157337 | 177005 | 177038 | 16 | α-locus | ||||
| 315 | --SA | HBA1, HBA2 | Exact | HBZ-1 (436nt) | HBZP1 region-down (292nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.159052_182788delins139752_139596 | Causative | 19915 | No other BP defined | No other BP defined | Out of locus | 159052 | No other BP defined | No other BP defined | 182788 | 16 | α-locus | ||||
| 316 | -(α)5.2 | HBA1, HBA2 | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 16 | α-locus | ||||
| 317 | --GEO | HBA1, HBA2 | Exact | HBA2-up (147nt) | HBA2-up (328nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NG_000006.1:g.32864_42264del9401 | Causative | 32864 | No other BP defined | No other BP defined | 42264 | 172001 | No other BP defined | No other BP defined | 181401 | 16 | α-locus | ||||
| 318 | --SPAN | HBA1, HBA2 | Range | HBM region-up (184nt) | HBA2-up (391nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Range | NC_000016.10:g.(169756_170100)_(179044_181595)del | Causative | 30619 | 30963 | 39907 | 42458 | 169756 | 170100 | 179044 | 181595 | 16 | α-locus | ||||
| 319 | --MA | HBA1, HBA2 | Exact | HBZ-1 (436nt) | HBZP1 region-down (292nt) | HBA1-down (283nt) | HBA1-down (310nt) | Exact | NG_000006.1:g.18964_39864del20901 | Causative | 18964 | No other BP defined | No other BP defined | 39864 | 158101 | No other BP defined | No other BP defined | 179001 | 16 | α-locus | ||||
| 320 | --BRIT | HBA1, HBA2 | Exact | HBZ-1 (436nt) | HBZP1 region-down (292nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.155501_184801del | Causative | 16364 | No other BP defined | No other BP defined | Out of locus | 155501 | No other BP defined | No other BP defined | 184801 | 16 | α-locus | ||||
| 321 | --CL | HBA1, HBA2, HBZ | Exact | HBZ region-up (346nt) | HBZ-1 (436nt) | ITFG3-intr 01 (445nt) | RGS11-10 (472nt) | Exact | NC_000016.10:g.152451_263801del | Causative | 13314 | No other BP defined | No other BP defined | Out of locus | 152451 | No other BP defined | No other BP defined | 263801 | 16 | α-locus | ||||
| 322 | --CI | HBA1, HBA2 | Range | HBZ-1 (436nt) | HBZP1 region-down (292nt) | LUC7L-5 (277nt) | Unknown | Range | NC_000016.10:g.(158380_161516)_ (186053_?) | Causative | 19243 | 22379 | Out of locus | BP extends beyond the MLPA probes | 158380 | 161516 | 186053 | BP extends beyond the MLPA probes | 16 | α-locus | ||||
| 323 | --CAL | HBA1, HBA2, HBZ | Exact | HBZ region-up (364nt) | HBZ region-up (346nt) | HBA1-down (310nt) | HBQ1-3 (400nt) | Exact | NG_000006.1:g.8464_40664del32201 | Causative | 8464 | No other BP defined | No other BP defined | 40664 | 147601 | No other BP defined | No other BP defined | 179801 | 16 | α-locus | ||||
| 324 | --115 | HBA1, HBA2, HBZ | Range | HBZ region-up (346nt) | HBZ-1 (436nt) | HBA1-down (310nt) | HBQ1-3 (400nt) | Range | NC_000016.10:g.(13158_13584)_(39907_41256)del | Causative | 13158 | 13584 | 39907 | 41256 | 152295 | 152721 | 179044 | 180293 | 16 | α-locus | ||||
| 325 | --RT | HBA1, HBA2, HBZ | Exact | HBZ region-up (346nt) | HBZ-1 (436nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.151401_188301del | Causative | 12264 | No other BP defined | No other BP defined | Out of locus | 151401 | No other BP defined | No other BP defined | 188301 | 16 | α-locus | ||||
| 326 | --YEM | HBA1, HBA2 | Range | HBZ-1 (436nt) | HBZP1 region-down (292nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Range | NG_000006.1:g.(16201_17547)_(41420_42633)del | Causative | 16201 | 17547 | 41420 | 42633 | 155338 | 156684 | 180557 | 181770 | 16 | α-locus | ||||
| 327 | --MC | HBA1, HBA2, HBZ | Exact | HBA-HS40 (382nt) | HBZ region-up (364nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.139301_182501del | Causative | 164 | No other BP defined | No other BP defined | Out of locus | 139301 | No other BP defined | No other BP defined | 182501 | 16 | α-locus | ||||
| 328 | --CANT | HBA1, HBA2 | Range | HBM region-up (184nt) | HBA2-up (391nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Range | NC_000016.10:g.(168531_169756)_(182770_183028)del | Causative | 29394 | 30619 | Out of locus | Out of locus | 168531 | 169756 | 182770 | 183028 | 16 | α-locus | ||||
| 329 | --KOL | HBA1, HBA2, HBZ | Range | HBZ region-up (346nt) | HBZ-1 (436nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Range | NC_000016.10:g.(151719_151746)_(185067_185093)del | Causative | 12582 | 12609 | Out of locus | Out of locus | 151719 | 151746 | 185067 | 185093 | 16 | α-locus | ||||
| 330 | --11.1 | HBA1, HBA2 | Range | HBA2-up (373nt) | HBA2-up (147nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Range | NG_000006.1:g.(31695_31724)_(42846_42867)del | Causative | 31695 | 31724 | 42846 | 42867 | 170832 | 170861 | 181983 | 182004 | 16 | α-locus | ||||
| 331 | --OH | HBA1, HBA2, HBZ | Exact | HBZ region-up (364nt) | HBZ region-up (346nt) | RGS11-10 (472nt) | AXIN1-11 (418nt) | Exact | NC_000016.10:g.(149158_152418)_(249560_284571)del | Causative | 10021 | No other BP defined | No other BP defined | Out of locus | 149158 | No other BP defined | No other BP defined | 284571 | 16 | α-locus | ||||
| 332 | (αα)RA | HS40, HBZ | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA2-up (328nt) | HBA1&2-1 (214nt) | Range | N/A | Causative | Out of locus | Out of locus | 15368 | 33739 | 85386 | 138673 | 154503 | 172876 | 16 | α-locus | ||||
| 333 | (αα)TI | HS40 | Exact | No probe | POLR3K-3 (463nt) | HBA-HS40 (382nt) | HBZ region-up (364nt) | Exact | NC_000016.10:g.10023_122854del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 10023 | No other BP defined | No other BP defined | 122854 | 16 | α-locus | ||||
| 334 | (αα)IJ | HS40 | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBZ region-up (346nt) | HBZ-1 (436nt) | Range | N/A | Causative | Out of locus | Out of locus | Out of locus | 13507 | 85386 | 85846 | 138673 | 152644 | 16 | α-locus | ||||
| 335 | (αα)CMO | HS40, HBZ | Exact | No probe | POLR3K-3 (463nt) | HBZ-1 (436nt) | HBZP1 region-down (292nt) | Exact | NC_000016.10:g.10018_157684del | Causative | Out of locus | No other BP defined | No other BP defined | 18547 | 10018 | No other BP defined | No other BP defined | 157684 | 16 | α-locus | ||||
| 336 | (αα)TAT | HS40, HBZ | Exact | No probe | POLR3K-3 (463nt) | HBZ-1 (436nt) | HBZP1 region-down (292nt) | Exact | NC_000016.10:g.10020_152823del | Causative | Out of locus | No other BP defined | No other BP defined | 13686 | 10020 | No other BP defined | No other BP defined | 152823 | 16 | α-locus | ||||
| 337 | (αα)MB | HS40 | Range | No probe | POLR3K-3 (463nt) | HBZ region-up (346nt) | HBZ-1 (436nt) | Range | N/A | Causative | Out of locus | Out of locus | Out of locus | 13507 | 28928 | 36491 | 138673 | 152644 | 16 | α-locus | ||||
| 338 | (αα)IC | HS40 | Exact | No probe | POLR3K-3 (463nt) | HBA-HS40 (382nt) | HBZ region-up (364nt) | Exact | NC_000016.10:g.10018_131194delinsAC | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 10018 | No other BP defined | No other BP defined | 131194 | 16 | α-locus | ||||
| 339 | (αα)IdF | HS40, HBZ | Exact | No probe | POLR3K-3 (463nt) | HBZ-1 (436nt) | HBZP1 region-down (292nt) | Exact | NC_000016.10:g.10020_154449del | Causative | Out of locus | No other BP defined | No other BP defined | 15312 | 10020 | No other BP defined | No other BP defined | 154449 | 16 | α-locus | ||||
| 1396 | Hb Parchman | HBB, HBD | Range | HBB-intr.2 (196nt) | HBB-intr.1 (154nt) | HBD-3 (346nt) | HBD-1 (312nt) | Range | NG_000007.3:g.[63249_70661del;63571_70985dup] | Causative | 63249 | 63571 | 70661 | 70985 | 5226631 | 5226955 | 5234045 | 5234367 | 11 | β-locus | ||||
| 1397 | Hb Lepore-Hollandia | HBB, HBD | Exact | HBB-intr.1 (154nt) | HBB-1 (WT) c.20A>T) (220nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.63290_70702del | Causative | 63290 | No other BP defined | No other BP defined | 70702 | 5226914 | No other BP defined | No other BP defined | 5234326 | 11 | β-locus | ||||
| 1398 | Hb Lepore-Baltimore | HBB, HBD | Exact | HBB-intr.2 (196nt) | HBB-intr.1 (154nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.63564_70978del | Causative | 63564 | No other BP defined | No other BP defined | 70978 | 5226638 | No other BP defined | No other BP defined | 5234052 | 11 | β-locus | ||||
| 1399 | Hb Lepore-Boston-Washington | HBB, HBD | Exact | HBB-intr.2 (196nt) | HBB-intr.1 (154nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.63632_71046del | Causative | 63632 | No other BP defined | No other BP defined | 71046 | 5226570 | No other BP defined | No other BP defined | 5233984 | 11 | β-locus | ||||
| 1400 | Hb Lepore-Leiden | HBB, HBD | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1401 | Hb Miyada | HBB, HBD | Exact | HBB-down (274nt) | HBB-down (173nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.63249_70661dup | Causative | 63249 | No other BP defined | No other BP defined | 70661 | 5217955 | No other BP defined | No other BP defined | 5234367 | 11 | β-locus | ||||
| 1402 | Hb P-Congo | HBB, HBD | Exact | HBB-3 (166nt) | HBB-intr.2 (196nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.64557_71923dup | Causative | 64557 | No other BP defined | No other BP defined | 71923 | 5225693 | No other BP defined | No other BP defined | 5233059 | 11 | β-locus | ||||
| 1403 | Hb P-India | HBB, HBD | Exact | HBB-intr.2 (196nt) | HBB-intr.1 (154nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.63632_71046dup | Causative | 63632 | No other BP defined | No other BP defined | 71046 | 5226570 | No other BP defined | No other BP defined | 5233984 | 11 | β-locus | ||||
| 1404 | Hb Hong Kong | HBB, HBD | Exact | HBB-1 (WT) c.20A>T) (220nt) | HBB-1 (189nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.63160_70572dup | Causative | 63160 | No other BP defined | No other BP defined | 70572 | 5227044 | No other BP defined | No other BP defined | 5234456 | 11 | β-locus | ||||
| 1405 | Hb P-Nilotic | HBB, HBD | Exact | HBB-intr.2 (196nt) | HBB-intr.1 (154nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.63461_70874dup | Causative | 63461 | No other BP defined | No other BP defined | 70874 | 5226742 | No other BP defined | No other BP defined | 5234155 | 11 | β-locus | ||||
| 1497 | Corfu (δ)0 | HBD | Exact | HBD-3 (346nt) | HBD-1 (312nt) | HBD-up (420nt) | HBBP1-3 (382nt) | Exact | NG_000007.3:g.57237_64443del7207 | Causative | 57237 | No other BP defined | No other BP defined | 64443 | 5233173 | No other BP defined | No other BP defined | 5240379 | 11 | β-locus | ||||
| 1498 | Hb Kenya | HBB, HBBP1, HBD, HBG1 | Exact | HBB-intr.2 (196nt) | HBB-intr.1 (154nt) | HBG1-3 (436nt) | HBG1&2-2 (136nt) | Exact | NG_000007.3:g.48194_70985del | Causative | 48194 | No other BP defined | No other BP defined | 70985 | 5226631 | No other BP defined | No other BP defined | 5249422 | 11 | β-locus | ||||
| 1499 | Black | HBB, HBD | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBD-up (420nt) | HBBP1-3 (382nt) | Exact | NC_000011.10:g.5153222_5238138delinsAAATA | Causative | 59478 | No other BP defined | No other BP defined | Out of locus | 5153222 | No other BP defined | No other BP defined | 5238138 | 11 | β-locus | ||||
| 1500 | Ghanaian | HBB, HBBP1, HBD | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBBP1-3 (382nt) | HBBP1-1 (445nt) | Exact | NC_000011.10:g.5158438_5242749del | Causative | 54867 | No other BP defined | No other BP defined | Out of locus | 5157437 | No other BP defined | No other BP defined | 5242749 | 11 | β-locus | ||||
| 1501 | Indian HPFH-3 | HBB, HBBP1, HBD | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBBP1-1 (445nt) | HBBP1-up (283nt) | Exact | NC_000011.10:g.5194459_5244226del | Causative | 53390 | No other BP defined | No other BP defined | Out of locus | 5194459 | No other BP defined | No other BP defined | 5244226 | 11 | β-locus | ||||
| 1502 | Italian 1 | HBB, HBD | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1503 | Italian 2, Sicilian | HBB, HBD | Exact | HBB-down (274nt) | HBB-down (173nt) | HBD-1 (312nt) | HBD-up (420nt) | Exact | NC_000011.10:g.59893_72818del | Causative | 59893 | No other BP defined | No other BP defined | 72818 | 5224797 | No other BP defined | No other BP defined | 5237743 | 11 | β-locus | ||||
| 1504 | SE Asian, Thai (Aγδβ)0 | HBB, HBBP1, HBD, HBG1, OR51V1, OR52Z1-OR51V1 | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBG1-up (409nt) | HBG2-3 (472nt) | Exact | NC_000011.10:g.5172745_5252029 | Causative | 45587 | No other BP defined | No other BP defined | Out of locus | 5172745 | No other BP defined | No other BP defined | 5252029 | 11 | β-locus | ||||
| 1505 | South East Asian (SEA) deletion | HBB | Exact | OR51V1-1 (486nt) | HBB-down (274nt) | HBB-up (365nt) | HBB-up (337nt) | Exact | NC_000011.10:g.5201647_5229059del | Causative | 68557 | No other BP defined | No other BP defined | Out of locus | 5201647 | No other BP defined | No other BP defined | 5229059 | 11 | β-locus | ||||
| 1506 | Indian (δβ)0 | HBB, HBBP1, HBD | Exact | OR51V1-1 (486nt) | HBB-down (274nt) | HBBP1-up (283nt) | HBG1-3 (436nt) | Exact | NC_000011.10:g.5214461_5247124del | Causative | 50492 | No other BP defined | No other BP defined | Out of locus | 5214461 | No other BP defined | No other BP defined | 5247124 | 11 | β-locus | ||||
| 1507 | Sicilian (δβ)0 | HBB, HBD | Exact | HBB-down (274nt) | HBB-down (173nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.64336_77738del | Causative | 64336 | No other BP defined | No other BP defined | 77738 | 5219878 | No other BP defined | No other BP defined | 5233280 | 11 | β-locus | ||||
| 1508 | Japanese (δβ)0 | HBB, HBBP1, HBD | Exact | OR52A5-1 (227nt) | OR52A1-1 (355nt) | HBBP1-up (283nt) | HBG1-3 (436nt) | Exact | NC_000011.10:g.5132468_5246133del | Causative | 51483 | No other BP defined | No other BP defined | Out of locus | 5132468 | No other BP defined | No other BP defined | 5246133 | 11 | β-locus | ||||
| 1509 | Spanish (δβ)0 | HBB, HBD | Exact | OR52A5-1 (227nt) | OR52A1-1 (355nt) | HBD-1 (312nt) | HBD-up (420nt) | Exact | NG_000011.10:g.5144331_5237241del | Causative | 60375 | No other BP defined | No other BP defined | Out of locus | 5144331 | No other BP defined | No other BP defined | 5237241 | 11 | β-locus | ||||
| 1510 | Black (δβ)0 | HBB, HBD | Range | HBB-down (173nt) | HBB-down (208nt) | HBD-1 (312nt) | HBD-up (420nt) | Range | NG_000007.3:g.(60530_60730)_(72351_72551)del11822 | Causative | 60530 | 60730 | 72351 | 72551 | 5225065 | No other BP defined | 5236889 | 5237086 | 11 | β-locus | ||||
| 1511 | East European (δβ)0 | HBB, HBD | Exact | HBB-intr.2 (196nt) | HBB-intr.1 (154nt) | HBD-1 (312nt) | HBD-up (420nt) | Exact | NG_000007.3:g.61566_70708del | Causative | 61566 | No other BP defined | No other BP defined | 70708 | 5226908 | No other BP defined | No other BP defined | 5236050 | 11 | β-locus | ||||
| 1512 | Laotian (δβ)0 | HBB, HBD | Range | HBB-down (274nt) | HBB-down (173nt) | HBD-3 (346nt) | HBD-1 (312nt) | Range | NG_000007.3:g.(64336_64524)_76866del | Causative | 64336 | 64524 | No other BP defined | 76866 | 5220750 | No other BP defined | 5233092 | 5233280 | 11 | β-locus | ||||
| 1513 | Thai/Vietnamese (δβ)0 | HBB, HBD | Exact | HBB-down (274nt) | HBB-down (173nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.64384_76993del | Causative | 64384 | No other BP defined | No other BP defined | 76993 | 5220623 | No other BP defined | No other BP defined | 5233232 | 11 | β-locus | ||||
| 1514 | Macedonian/Turkish (δβ)0 | HBB, HBD | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1515 | Turkish (δβ)0 | HBB, HBBP1, HBD | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1516 | Leiden 7.4 kb (δβ)0 | HBB, HBD | Range | HBB-down (274nt) | HBB-down (173nt) | HBD-up (420nt) | HBBP1-3 (382nt) | Range | NG_000007.3:g.(59658_64667)_(72019_81668)del | Causative | 59658 | 64667 | 72019 | 81668 | 5215976 | 5225597 | 5232949 | 5237958 | 11 | β-locus | ||||
| 1517 | Thai 11.3 (δβ)0 | HBB, HBD | Exact | HBB-3 (166nt) | HBB-intr.2 (196nt) | HBD-1 (312nt) | HBD-up (420nt) | Exact | NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG | Causative | 60045 | No other BP defined | No other BP defined | 71313 | 5226303 | No other BP defined | No other BP defined | 5237571 | 11 | β-locus | ||||
| 1518 | Japanese 2 (δβ)0 | HBB, HBBP1, HBD | Exact | HBB-down (274nt) | HBB-down (173nt) | HBBP1-up (283nt) | HBG1-3 (436nt) | Exact | NG_000007.3:g.52036_78987del | Causative | 52036 | No other BP defined | No other BP defined | 78987 | 5218629 | No other BP defined | No other BP defined | 5245580 | 11 | β-locus | ||||
| 1519 | Indian (Aγδβ)0 (inv) | HBB, HBBP1, HBD, HBG1 | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1520 | German (Aγδβ)0 | HBB, HBBP1, HBD, HBG1 | Range | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBG1-up (409nt) | HBG2-3 (472nt) | Range | NC_000011.10:g.(5197976_ 5198976)_(5251297_5251694)del | Causative | 45922 | 46319 | Out of locus | Out of locus | BP starts from the telomere | 5198976 | 5251297 | 5251694 | 11 | β-locus | ||||
| 1521 | Cantonese (Aγδβ)0 | HBB, HBBP1, HBD, HBG1 | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1522 | Malaysian-1 (Aγδβ)0 | HBB, HBBP1, HBD, HBG1 | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1523 | Malaysian-2 (Aγδβ)0 | HBB, HBBP1, HBD, HBG1 | Range | OR51V1-1 (486nt) | HBB-down (274nt) | HBG1&2-1 (180nt) | HBG1-up (409nt) | Range | NC_000011.10:g.(5207467_5208467)_(5250061_5250240)del | Causative | 47376 | 47553 | Out of locus | Out of locus | 5207467 | 5208467 | 5250061 | 5250240 | 11 | β-locus | ||||
| 1524 | Turkish (Aγδβ)0 | HBB, HBBP1, HBD, HBG1 | Exact | HBB-down (274nt) | HBB-down (173nt) | HBG1-up (409nt) | HBG2-3 (472nt) | Exact | NG_000007.3:g.45410_81665del36256 | Causative | 45410 | No other BP defined | No other BP defined | 81665 | 5215951 | No other BP defined | No other BP defined | 5252206 | 11 | β-locus | ||||
| 1525 | Belgian (Aγδβ)0 | HBB, HBBP1, HBD, HBG1 | Range | OR51V1-1 (486nt) | HBB-down (274nt) | HBG1&2-1 (180nt) | HBG1-up (409nt) | Range | NC_000011.10:g.(5200077_5215844)_(5249806_5251160)del | Causative | 46546 | 47810 | Out of locus | Out of locus | 5200077 | 5215844 | 5249806 | 5251160 | 11 | β-locus | ||||
| 1526 | Black (Aγδβ)0 | HBB, HBBP1, HBD, HBG1 | Range | OR51V1-1 (486nt) | HBB-down (274nt) | HBG1-3 (436nt) | HBG1&2-2 (136nt) | Range | NC_000011.10:g.5212727_5248576del | Causative | 49040 | No other BP defined | No other BP defined | Out of locus | 5212727 | Information unclear | Information unclear | 5248576 | 11 | β-locus | ||||
| 1527 | Chinese (Aγδβ)0 | HBB, HBBP1, HBD, HBG1 | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBG1-3 (436nt) | HBG1&2-2 (136nt) | Exact | NC_000011.10:g.5169918_5248821del | Causative | 48795 | No other BP defined | No other BP defined | Out of locus | 5169918 | No other BP defined | No other BP defined | 5248821 | 11 | β-locus | ||||
| 1528 | Yunnanese (Aγδβ)0 | HBB, HBBP1, HBD, HBG1 | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBG1&2-1 (180nt) | HBG1-up (409nt) | Exact | NC_000011.10:g.5182845_5249973del | Causative | 47643 | No other BP defined | No other BP defined | Out of locus | 5182845 | No other BP defined | No other BP defined | 5249973 | 11 | β-locus | ||||
| 1530 | Italian (Aγδβ)0 | HBB, HBBP1, HBD, HBG1 | Exact | OR52A5-1 (227nt) | OR52A1-1 (355nt) | HBG1-3 (436nt) | HBG1&2-2 (136nt) | Exact | NC_000011.10:g.5194458_5249516del | Causative | 48100 | No other BP defined | No other BP defined | Out of locus | 5194458 | No other BP defined | No other BP defined | 5249516 | 11 | β-locus | ||||
| 1531 | Canadian (Aγδβ)0 | HBB, HBBP1, HBD, HBG1 | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBG1-up (409nt) | HBG2-3 (472nt) | Exact | NC_000011.10:g.5196589_5251715delinsTA | Causative | 45901 | No other BP defined | No other BP defined | Out of locus | 5196589 | No other BP defined | No other BP defined | 5251715 | 11 | β-locus | ||||
| 1532 | Leiden 69.5 | HBB, HBBP1, HBD, HBG1 | Range | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBG1-up (409nt) | HBG2-3 (472nt) | Range | NC_000011.10:g.(5167906_5178684)_(5248184_5251232)del | Causative | 46384 | 49432 | Out of locus | Out of locus | 5167906 | 5178684 | 5248184 | 5251232 | 11 | β-locus | ||||
| 1533 | 49.3 kb Gγ(Aγδβ)0 Asian del | HBB, HBBP1, HBD, HBG1 | Exact | OR51V1-1 (486nt) | HBB-down (274nt) | HBG1&2-1 (180nt) | HBG1-up (409nt) | Exact | NC_000011.10:g.5201244_5250542del | Causative | 47074 | No other BP defined | No other BP defined | Out of locus | 5201244 | No other BP defined | No other BP defined | 5250542 | 11 | β-locus | ||||
| 1534 | Anglo-Saxon (εγδβ)0 | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Exact | OR51V1-1 (486nt) | HBB-down (274nt) | HBB-HS5 (261nt) | OR51B2-1 (298nt) | Exact | NC_000011.8:g.5204501_5300223del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 5204501 | No other BP defined | No other BP defined | 5300223 | 11 | β-locus | ||||
| 1535 | Irish (εγδβ)0 | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Exact | OR52A5-1 (227nt) | OR52A1-1 (355nt) | HBB-HS5 (261nt) | OR51B2-1 (298nt) | Exact | NC_000011.8:g.5110112_5312961del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 5110112 | No other BP defined | No other BP defined | 5312961 | 11 | β-locus | ||||
| 1536 | Canadian (εγδβ)0 | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1537 | Scottish - Irish | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1538 | English I (εγδβ)0 | HBE1, HBG2, LCRB | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1539 | Mexican (εγδβ)0 | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1540 | Hispanic (εγδβ)0 | LCRB | Exact | HBB-HS1 (240nt) | HBB-HS2 (292nt) | HBB-HS5 (261nt) | OR51B2-1 (298nt) | Exact | NC_000011.10:g.5279573_5319355del | Causative | Out of locus | No other BP defined | No other BP defined | 18043 | 5279573 | No other BP defined | No other BP defined | 5319355 | 11 | β-locus | ||||
| 1541 | Croatian (εγδβ)0 | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Range | OR52A5-1 (227nt) | OR52A1-1 (355nt) | HBB-HS5 (261nt) | OR51B2-1 (298nt) | Range | NC_000011.10:g.(5151491_5158092)_(5285862_5295096)del | Causative | 2520 | 11754 | Out of locus | Out of locus | 5151491 | 5158092 | 5285862 | 5295096 | 11 | β-locus | ||||
| 1542 | Dutch I (εγδβ)0 | HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Exact | HBB-up (365nt) | HBB-up (337nt) | OR51B2-1 (298nt) | OR51M1-1 (253nt) | Exact | NC_000011.10:g.5229432_5329263del | Causative | Out of locus | No other BP defined | No other BP defined | 68184 | 5229432 | No other BP defined | No other BP defined | 5329263 | 11 | β-locus | ||||
| 1543 | English II | HBE1, LCRB | Exact | HBG2-up (373nt) | HBE1-1 (463nt) | OR51B2-1 (298nt) | OR51M1-1 (253nt) | Exact | NC_000011.10:g.5262849_5360616del | Causative | Out of locus | No other BP defined | No other BP defined | 34767 | 5262849 | No other BP defined | No other BP defined | 5360616 | 11 | β-locus | ||||
| 1544 | English III | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1545 | English IV | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | OR51M1-1 (253nt) | No probe | Exact | NC_000011.10:g.5156866_5595894del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 5156866 | No other BP defined | No other BP defined | 5595894 | 11 | β-locus | ||||
| 1546 | Chilean | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 1547 | Dutch II | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB, OR51B5, OR51M1, OR51V1 | Range | No probe | OR52A5-1 (227nt) | OR51M1-1 (253nt) | No probe | Range | NC_000011.10:g.(?_4999945)_(5409809_5430440)del | Causative | Out of locus | Out of locus | Out of locus | BP extends beyond the MLPA probes | BP extends beyond the MLPA probes | 4999945 | 5409809 | 5430440 | 11 | β-locus | ||||
| 1548 | Dutch III | HBE1, HBG1, HBG2, LCRB | Exact | HBG1-3 (436nt) | HBG1&2-2 (136nt) | OR51B2-1 (298nt) | OR51M1-1 (253nt) | Exact | NC_000011.10:g.5248950_5360936delinsGGGAGACTGATATA | Causative | Out of locus | No other BP defined | No other BP defined | 48666 | 5248950 | No other BP defined | No other BP defined | 5360936 | 11 | β-locus | ||||
| 1549 | Dutch IV | HBE1, HBG1, HBG2, LCRB, OR51B5, OR51B6 | Range | HBBP1-up (283nt) | HBG1-3 (436nt) | OR51M1-1 (253nt) | No probe | Range | NC_000011.10:g.(5245669_5248365)_(5440251_5470849)del | Causative | Out of locus | Information unclear | 49393 | 55559 | 5245669 | 5248365 | 5440251 | 5470849 | 11 | β-locus | ||||
| 1550 | Dutch V | LCRB, OR51B2, OR51B4, OR51B5, OR51B6, OR51M1 | Range | HBE1-1 (463nt) | HBB-HS1 (240nt) | OR51M1-1 (253nt) | No probe | Range | NC_000011.10:g.(5269965_5275919)_(5409809_5430375)del | Causative | Out of locus | Information unclear | 21697 | 27651 | 5269965 | 5275919 | 5409809 | 5430375 | 11 | β-locus | ||||
| 1551 | Dutch VI | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Range | Unknown | HBB-1 (148nt) | OR51B2-1 (298nt) | OR51M1-1 (253nt) | Range | NC_000011.10:g.(?_5227218)_(5373082_5382848)del | Causative | Out of locus | Out of locus | 70398 | BP extends beyond the MLPA probes | BP extends beyond the MLPA probes | 5227218 | 5373082 | 5382848 | 11 | β-locus | ||||
| 1552 | Japanese | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Exact | No probe | TRIM68-1 (160nt) | OR51M1-1 (253nt) | No probe | Exact | NC_000011.10:g.4600605_6019332delinsCACTTGGTTATGATGTATT | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 4600605 | No other BP defined | No other BP defined | 6019332 | 11 | β-locus | ||||
| 1553 | French | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 2122 | 125 bp deletion | HBB | Exact | HBB-1 (189nt) | HBB-1 (148nt) | HBB-1 (148nt) | HBB-up (365nt) | Exact | NG_000007.3:g.70360_70485del125 | Causative | 70360 | No other BP defined | No other BP defined | 70485 | 5227131 | No other BP defined | No other BP defined | 5227256 | 11 | β-locus | ||||
| 2123 | 7719 bp deletion | HBB | Exact | HBB-down (274nt) | HBB-down (173nt) | HBB-3 (166nt) | HBB-intr.2 (196nt) | Exact | NG_000007.3:g.71550_79270del7719 | Causative | 71550 | No other BP defined | No other BP defined | 79270 | 5218346 | No other BP defined | No other BP defined | 5226066 | 11 | β-locus | ||||
| 2124 | Caucasian HPFH | HBB | Exact | OR51V1-1 (486nt) | HBB-down (274nt) | HBB-up (365nt) | HBB-up (337nt) | Exact | NC_000011.10:g.5201455_5229279delins5223936_5223960 | Causative | 68337 | No other BP defined | No other BP defined | Out of locus | 5201455 | No other BP defined | No other BP defined | 5229279 | 11 | β-locus | ||||
| 2125 | Afghan | HBB | Exact | HBB-intr.2 (196nt) | HBB-intr.1 (154nt) | HBB-1 (148nt) | HBB-up (365nt) | Exact | NG_000007:g.70067_70976del | Causative | 70067 | No other BP defined | No other BP defined | 70976 | 5226640 | No other BP defined | No other BP defined | 5227549 | 11 | β-locus | ||||
| 2149 | N/A | HBB, HBBP1, HBD, HBG1, HBG2 | Exact | HBB-intr.1 (154nt) | HBB-1 (WT) c.20A>T) (220nt) | HBG2-3 (427nt) | HBG2-up (373nt) | Exact | NG_000007.3:g.42946_70654del | Causative | 42946 | No other BP defined | No other BP defined | 70654 | 5226962 | No other BP defined | No other BP defined | 5254670 | 11 | β-locus | ||||
| 2150 | 1357 bp deletion | HBB | Exact | HBB-3 (166nt) | HBB-intr.2 (196nt) | HBB-1 (148nt) | HBB-up (365nt) | Exact | NG_000007.3:g.69997_71353del1357 | Causative | 69997 | No other BP defined | No other BP defined | 71353 | 5226263 | No other BP defined | No other BP defined | 5227619 | 11 | β-locus | ||||
| 2153 | Kabylia deletion/insertion | HBB | Exact | HBB-down (173nt) | HBB-down (208nt) | HBB-1 (148nt) | HBB-up (365nt) | Exact | NG_000007.3:g.70417_72458delinsATAAG | Causative | 70417 | No other BP defined | No other BP defined | 72458 | 5225158 | No other BP defined | No other BP defined | 5227199 | 11 | β-locus | ||||
| 2154 | French deletion/insertion | HBB, HBD | Exact | HBB-down (274nt) | HBB-down (173nt) | HBD-1 (312nt) | HBD-up (420nt) | Exact | NG_000007.3:g.[61399_61400insC; 61402_81144del] | Causative | 61402 | No other BP defined | No other BP defined | 81144 | 5216473 | No other BP defined | No other BP defined | 5236214 | 11 | β-locus | ||||
| 2155 | French West-Indies deletion/insertion | HBB, HBD | Exact | HBB-down (274nt) | HBB-down (173nt) | HBD-up (420nt) | HBBP1-3 (382nt) | Exact | NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG | Causative | 57155 | No other BP defined | No other BP defined | 80887 | 5216729 | No other BP defined | No other BP defined | 5240462 | 11 | β-locus | ||||
| 2156 | Algerian HPFH deletion | HBB, HBD | Exact | HBB-down (274nt) | HBB-down (173nt) | HBD-up (420nt) | HBBP1-3 (382nt) | Exact | NG_000007.3:g.57141_81002del; 81008delA | Causative | 57141 | No other BP defined | No other BP defined | 81006 | 5216610 | No other BP defined | No other BP defined | 5240475 | 11 | β-locus | ||||
| 2157 | Indian | HBB | Exact | HBB-3 (166nt) | HBB-intr.2 (196nt) | HBB-up (337nt) | HBD-3 (391nt) | Exact | NG_000007.3:g.67357_71413del | Causative | 67357 | No other BP defined | No other BP defined | 71413 | 5226203 | No other BP defined | No other BP defined | 5230259 | 11 | β-locus | ||||
| 2158 | Pakistani I | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | OR51M1-1 (253nt) | No probe | Exact | NC_000011.10:g.5194461_5700474delins[250inv] | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 5194461 | No other BP defined | No other BP defined | 5700474 | 11 | β-locus | ||||
| 2159 | (εγδβ)0 with α triplication | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 2161 | French (εγδβ)0 insertion/deletion | LCRB | Exact | HBB-HS1 (240nt) | HBB-HS2 (292nt) | HBB-HS4 (304nt) | HBB-HS5 (261nt) | Exact | NG_000007.3:g.7751_18905delins[13569_13579inv;13364_13549inv] | Causative | 7751 | No other BP defined | No other BP defined | 18905 | 5278711 | No other BP defined | No other BP defined | 5289865 | 11 | β-locus | ||||
| 2163 | Norwegian (εγδβ)0 | HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Exact | HBB-up (365nt) | HBB-up (337nt) | OR51B2-1 (298nt) | OR51M1-1 (253nt) | Exact | NC_000011.10:g.5228098_5358569del | Causative | 69518 | No other BP defined | No other BP defined | Out of locus | 5228098 | No other BP defined | No other BP defined | 5358569 | 11 | β-locus | ||||
| 2164 | Tennessean (εγδβ)0 | LCRB | Exact | HBE1-1 (463nt) | HBB-HS1 (240nt) | HBB-HS3 (330nt) | HBB-HS4 (268nt) | Exact | NG_000007.3:g.10054_21931del | Causative | 10054 | No other BP defined | No other BP defined | 21931 | 5275685 | No other BP defined | No other BP defined | 5287562 | 11 | β-locus | ||||
| 2165 | Puerto Rican (εγδβ)0 | LCRB | Exact | HBE1-1 (463nt) | HBB-HS1 (240nt) | HBB-HS4 (304nt) | HBB-HS5 (261nt) | Exact | NG_000007.3:g.2904_25432del | Causative | 2904 | No other BP defined | No other BP defined | 25432 | 5272184 | No other BP defined | No other BP defined | 5294712 | 11 | β-locus | ||||
| 2167 | Asian Indian (εγδβ)0 | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 2190 | CD 62-83 (+65 bp) | HBB | Exact | No probe | No probe | No probe | No probe | Exact | HBB:c.187_251dup | Causative | 70911 | No other BP defined | No other BP defined | 70975 | 5226641 | No other BP defined | No other BP defined | 5226705 | 11 | β-locus | This is a special case where MLPA probes could not be detected due to the size of the duplication. | |||
| 2230 | -α3.7 (type II) | α3.7 hybrid, HBA1, HBA2 | Exact | HBA1&2-3 (172nt) | HBA1-up (190nt) | HBA1-intr.2 (250nt) | HBA1-3 (154nt) | Exact | NG_000006.1:g.34478_38288del | Causative | 34478 | No other BP defined | No other BP defined | 38288 | 173615 | No other BP defined | No other BP defined | 177425 | 16 | α-locus | ||||
| 2231 | -α3.7 (type III) | α3.7 hybrid, HBA1, HBA2 | Exact | HBA1&2-3 (172nt) | HBA1-up (190nt) | HBA1-intr.2 (250nt) | HBA1-3 (154nt) | Exact | NG_000006.1:g.34570_38381del | Causative | 34570 | No other BP defined | No other BP defined | 38381 | 173707 | No other BP defined | No other BP defined | 177518 | 16 | α-locus | ||||
| 2232 | -α27.6 | HBA2, HBZ | Exact | HBZ region-up (364nt) | HBZ region-up (346nt) | HBA1-up (337nt) | HBA1-up (226nt) | Exact | NG_000006.1:g.9079_36718del27640 | Causative | 9079 | No other BP defined | No other BP defined | 36718 | 148216 | No other BP defined | No other BP defined | 175855 | 16 | α-locus | ||||
| 2233 | -ζ | HBZ | Exact | HBZ region-up (346nt) | HBZ-1 (436nt) | HBZP1 region-down (292nt) | HBM region-up (184nt) | Exact | N/A | Causative | 13718 | No other BP defined | No other BP defined | 26068 | 152644 | No other BP defined | No other BP defined | 165205 | 16 | α-locus | ||||
| 2234 | -α16.6 | HBA2, HBZ | Range | HBZ-1 (436nt) | HBZP1 region-down (292nt) | HBA1-up (256nt) | HBA1-up (337nt) | Range | NG_000006.1:g.(19842_19845)_(36479_36486)delins22446_24085inv | Causative | 19842 | 19845 | 36479 | 36486 | 158979 | 158982 | 175616 | 175623 | 16 | α-locus | ||||
| 2235 | α-αΔ970 | HBA1 | Exact | HBA1-up (256nt) | HBA1-up (337nt) | HBA1-up (226nt) | HBA1-intr.2 (165nt) | Exact | NG_000006.1:g.36599_37568delinsTAG | Causative | 36599 | No other BP defined | No other BP defined | 37568 | 175736 | No other BP defined | No other BP defined | 176705 | 16 | α-locus | ||||
| 2236 | --DUTCH I | HBA1, HBA2, HBZ | Exact | HBZ region-up (364nt) | HBZ region-up (346nt) | HBA1-down (310nt) | HBQ1-3 (400nt) | Exact | NG_000006.1:g.7622_41156del | Causative | 7622 | No other BP defined | No other BP defined | 41156 | 146759 | No other BP defined | No other BP defined | 180309 | 16 | α-locus | ||||
| 2237 | --AW | HBA1, HBA2 | Exact | HBA2-up (373nt) | HBA2-up (147nt) | HBA1-down (283nt) | HBA1-down (310nt) | Exact | NG_000006.1:g.32143_40317delinsCTCCCTGGACAAGT | Causative | 32143 | No other BP defined | No other BP defined | 40317 | 171280 | No other BP defined | No other BP defined | 179454 | 16 | α-locus | ||||
| 2238 | --BGS | HS40, HBA1, HBA2, HBZ | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA1-down (283nt) | HBA1-down (310nt) | Exact | NC_000016.10:g.47749_179374del | Causative | Out of locus | No other BP defined | No other BP defined | 40237 | 47749 | No other BP defined | No other BP defined | 179374 | 16 | α-locus | ||||
| 2239 | --CAMPANIA | HBA1, HBA2, HBZ | Range | HBZ region-up (364nt) | HBZ region-up (346nt) | HBA1-down (283nt) | HBA1-down (310nt) | Range | NC_000016.10:g.(8635_8924)_(39835_40133)del | Causative | 8635 | 8924 | 39835 | 40133 | 147772 | 148061 | 178972 | 179270 | 16 | α-locus | ||||
| 2240 | --FIL-2 | HBA1, HBA2 | Exact | HBZ-1 (436nt) | HBZP1 region-down (292nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.156188_184103del | Causative | 17051 | No other BP defined | No other BP defined | Out of locus | 156188 | No other BP defined | No other BP defined | 184103 | 16 | α-locus | ||||
| 2241 | --ED | HS40, HBA1, HBA2, HBZ | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Range | NC_000016.10:g.(110582_113386)_(187266_188773)del | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 110582 | 113386 | 187266 | 188773 | 16 | α-locus | ||||
| 2242 | --GP | HS40, HBA1, HBA2, HBZ | Range | No probe | POLR3K-3 (463nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Range | NC_000016.10:g.(43803_47123)_(187266_188649)del | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 43803 | 47123 | 187266 | 188649 | 16 | α-locus | ||||
| 2243 | (αα)AS | HS40 | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA-HS40 (382nt) | HBZ region-up (364nt) | Range | N/A | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 53608 | 85386 | 85386 | 138673 | 16 | α-locus | ||||
| 2244 | (αα)JM | HS40, HBZ | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA2-up (328nt) | HBA1&2-1 (214nt) | Range | N/A | Causative | Out of locus | Out of locus | 15368 | 33739 | 53608 | 54828 | 154503 | 172876 | 16 | α-locus | ||||
| 2245 | (αα)MM | HS40 | Range | No probe | POLR3K-3 (463nt) | HBZ region-up (364nt) | HBZ region-up (346nt) | Range | NC_000016.10:g.(?_53322)_(141396_143702)del | Causative | BP extends beyond the MLPA probes | Out of locus | 2259 | 4565 | BP extends beyond the MLPA probes | 53322 | 141396 | 143702 | 16 | α-locus | ||||
| 2246 | (αα)L | HS40 | Range | No probe | POLR3K-3 (463nt) | HBZP1 region-down (292nt) | HBM region-up (184nt) | Range | NC_000016.10:g.(?_55799)_(152345_162796)del | Causative | BP extends beyond the MLPA probes | Out of locus | 13208 | 23659 | BP extends beyond the MLPA probes | 55799 | 152345 | 162796 | 16 | α-locus | ||||
| 2247 | (αα)SN | HS40, HBZ | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA2-up (328nt) | HBA1&2-1 (214nt) | Range | N/A | Causative | Out of locus | Out of locus | 15368 | 33739 | 85386 | 138673 | 154503 | 172876 | 16 | α-locus | ||||
| 2248 | (αα)Sco | HS40 | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA-HS40 (382nt) | HBZ region-up (364nt) | Range | NC_000016.10:g.(93618_93635)_(141631_141648)del | Causative | Out of locus | Out of locus | 2494 | 2511 | 93618 | 93635 | 141631 | 141648 | 16 | α-locus | ||||
| 2249 | (αα)ZW | HS40 | Exact | No probe | No probe | No probe | No probe | Exact | NC_000016.10:g. 90778_106773del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 90778 | No other BP defined | No other BP defined | 106773 | 16 | α-locus | This is a special case where MLPA probes could not be detected due to the size of the deletion. | |||
| 2250 | (αα)RSR | HS40, HBZ | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA2-up (328nt) | HBA1&2-1 (214nt) | Range | N/A | Causative | Out of locus | Out of locus | 15368 | 33739 | 53828 | 57669 | 154503 | 172876 | 16 | α-locus | ||||
| 2251 | (αα)MCu | HS40, HBZ | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA2-up (328nt) | HBA1&2-1 (214nt) | Range | N/A | Causative | Out of locus | Out of locus | 15368 | 33739 | 53828 | 57669 | 154503 | 172876 | 16 | α-locus | ||||
| 2252 | --BR | HS40, HBA1, HBA2, HBZ | Exact | No probe | LUC7L-5 (277nt) | LUC7L-5 (277nt) | ITFG3-intr 01 (445nt) | Exact | NC_000016.10:g.11555_229482del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 11555 | No other BP defined | No other BP defined | 229482 | 16 | α-locus | ||||
| 2253 | --ZW | HS40, HBA1, HBA2, HBZ | Exact | No probe | LUC7L-5 (277nt) | LUC7L-5 (277nt) | ITFG3-intr 01 (445nt) | Exact | NC_000016.10:g.11555_229482del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 11555 | No other BP defined | No other BP defined | 229482 | 16 | α-locus | ||||
| 2254 | --JY | HS40, HBA1, HBA2, HBZ | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | LUC7L-5 (277nt) | ITFG3-intr 01 (445nt) | Range | N/A | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 53608 | 54828 | 188969 | 229449 | 16 | α-locus | ||||
| 2255 | --LC | HS40, HBA1, HBA2, HBZ | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | LUC7L-5 (277nt) | ITFG3-intr 01 (445nt) | Range | N/A | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 53828 | 57669 | 188969 | 229449 | 16 | α-locus | ||||
| 2256 | --VR | HS40, HBA1, HBA2, HBZ | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | LUC7L-5 (277nt) | ITFG3-intr 01 (445nt) | Range | N/A | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 53608 | 54828 | 188969 | 229449 | 16 | α-locus | ||||
| 2257 | --JT | HS40, HBA1, HBA2, HBZ | Range | No probe | POLR3K-3 (463nt) | AXIN1-11 (418nt) | DECR2-4 (262nt) | Range | NC_000016.10:g.(44035_44092)_(312033_312090)del | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 44035 | 44092 | 312033 | 312090 | 16 | α-locus | ||||
| 2258 | --AB | HS40, HBA1, HBA2, HBZ | Range | No probe | POLR3K-3 (463nt) | DECR2-4 (262nt) | No probe | Range | NC_000016.10:g.(?_55799)_(360870_410354)del | Causative | BP extends beyond the MLPA probes | Out of locus | Out of locus | Out of locus | BP extends beyond the MLPA probes | 55799 | 360870 | 410354 | 16 | α-locus | ||||
| 2259 | --GZ | HS40, HBA1, HBA2, HBZ | Range | No probe | POLR3K-3 (463nt) | DECR2-4 (262nt) | No probe | Range | NC_000016.10:g.(?_53322)_(879639_910965)del | Causative | BP extends beyond the MLPA probes | Out of locus | Out of locus | Out of locus | BP extends beyond the MLPA probes | 53322 | 879639 | 910065 | 16 | α-locus | ||||
| 2260 | Dutch II | HS40, HBA1, HBA2, HBZ | Range | No probe | POLR3K-3 (463nt) | AXIN1-11 (418nt) | DECR2-4 (262nt) | Range | NC_000016.10:g.(?_55799)_(284538_298092)del | Causative | BP extends beyond the MLPA probes | Out of locus | Out of locus | Out of locus | BP extends beyond the MLPA probes | 55799 | 284538 | 298092 | 16 | α-locus | ||||
| 2261 | --MK | HS40, HBA1, HBA2, HBZ | Range | HBA-HS40 (178nt) | HBA-HS40 (382nt) | AXIN1-11 (418nt) | DECR2-4 (262nt) | Range | NC_000016.10:g.(113696_130566)_(298093_ 331093)del | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 113696 | 130566 | 298093 | 331093 | 16 | α-locus | ||||
| 2262 | --80 | HS40, HBA1, HBA2, HBZ | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 16 | α-locus | ||||
| 2263 | α-ZF | HBA1 | Exact | HBA1&2-3 (172nt) | HBA1-up (190nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.174046_192396del | Causative | 34909 | No other BP defined | No other BP defined | Out of locus | 174046 | No other BP defined | No other BP defined | 192396 | 16 | α-locus | ||||
| 2264 | --Brazil | HS40, HBA1, HBA2, HBZ | Range | No probe | POLR3K-3 (463nt) | DECR2-4 (262nt) | No probe | Range | NC_000016.10:g.(?_55799)_(986613_1063737)del | Causative | BP extends beyond the MLPA probes | Out of locus | Out of locus | Out of locus | BP extends beyond the MLPA probes | 55799 | 986613 | 1063737 | 16 | α-locus | ||||
| 2265 | --PV | HS40, HBA1, HBA2, HBZ | Range | No probe | POLR3K-3 (463nt) | DECR2-4 (262nt) | No probe | Range | NC_000016.10:g.(?_55799)_(1625950_1740473)del | Causative | BP extends beyond the MLPA probes | Out of locus | Out of locus | Out of locus | BP extends beyond the MLPA probes | 55799 | 1625950 | 1740473 | 16 | α-locus | ||||
| 2266 | --HN | HS40, HBA1, HBA2, HBZ | Range | No probe | POLR3K-3 (463nt) | DECR2-4 (262nt) | No probe | Range | NC_000016.10:g.(?_55799)_(1923864_ 1939057)del | Causative | BP extends beyond the MLPA probes | Out of locus | Out of locus | Out of locus | BP extends beyond the MLPA probes | 55799 | 1923864 | 1939057 | 16 | α-locus | ||||
| 2267 | --FT | HS40, HBA1, HBA2, HBZ | Range | No probe | POLR3K-3 (463nt) | DECR2-4 (262nt) | No probe | Range | NC_000016.10:g.(?_55799)_(1857769_1890275)del | Causative | BP extends beyond the MLPA probes | Out of locus | Out of locus | Out of locus | BP extends beyond the MLPA probes | 55799 | 1857769 | 1890275 | 16 | α-locus | ||||
| 2268 | --BA | HS40, HBA1, HBA2, HBZ | Exact | No probe | POLR3K-3 (463nt) | DECR2-4 (262nt) | No probe | Exact | NC_000016.10:g.0_772369del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | BP starts from the telomere | No other BP defined | No other BP defined | 772369 | 16 | α-locus | ||||
| 2269 | --TN | HS40, HBA1, HBA2, HBZ | Exact | No probe | POLR3K-3 (463nt) | DECR2-4 (262nt) | No probe | Exact | NC_000016.10:g.0_976709del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | BP starts from the telomere | No other BP defined | No other BP defined | 976709 | 16 | α-locus | ||||
| 2270 | --BO | HS40, HBA1, HBA2, HBZ | Exact | No probe | POLR3K-3 (463nt) | DECR2-4 (262nt) | No probe | Exact | NC_000016.10:g.0_1896761del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | BP starts from the telomere | No other BP defined | No other BP defined | 1896761 | 16 | α-locus | ||||
| 2271 | --IM | HS40, HBA1, HBA2, HBZ | Exact | No probe | POLR3K-3 (463nt) | DECR2-4 (262nt) | No probe | Exact | NC_000016.10:g.0_2021644del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | BP starts from the telomere | No other BP defined | No other BP defined | 2021644 | 16 | α-locus | ||||
| 2272 | --LIN | HS40, HBA1, HBA2, HBZ | Exact | No probe | POLR3K-3 (463nt) | DECR2-4 (262nt) | No probe | Exact | NC_000016.10:g.0_2023655del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | BP starts from the telomere | No other BP defined | No other BP defined | 2023655 | 16 | α-locus | ||||
| 2273 | --GS | HS40, HBA1, HBA2, HBZ | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 16 | α-locus | ||||
| 2283 | South-Italy | HBB | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBB-up (337nt) | HBD-3 (391nt) | Exact | NC_000011.10:g.5164564_5230714del | Causative | 66902 | No other BP defined | No other BP defined | Out of locus | 5164564 | No other BP defined | No other BP defined | 5230714 | 11 | β-locus | ||||
| 2418 | Swiss (εγδβ)0 | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Range | No probe | TRIM68-1 (160nt) | OR51M1-1 (253nt) | No probe | Range | NC_000011.10:g.(4002734_4002784)_ (6907712_6907762)del | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 4002734 | 4002784 | 6907712 | 6907762 | 11 | β-locus | ||||
| 2419 | Senegalese δ(0)β(+) | HBB, HBD | Range | HBB-intr.1 (154nt) | HBB-1 (WT) c.20A>T) (220nt) | HBD-3 (346nt) | HBD-1 (312nt) | Range | NG_000007.3:g.(63154_63209)_(70570_70625)del7417 | Causative | 63154 | 63209 | 70570 | 70625 | 5226991 | 5227046 | 5234407 | 5234462 | 11 | β-locus | ||||
| 2430 | 203 bp deletion | HBA2 | Exact | HBA2-intr.2 (160nt) | HBA2-intr.2 (244nt) | HBA1&2-3 (172nt) | HBA1-up (190nt) | Exact | NG_000006.1:g.34305_34507del203 | Causative | 34305 | No other BP defined | No other BP defined | 34507 | 173442 | No other BP defined | No other BP defined | 173644 | 16 | α-locus | ||||
| 2475 | 21.9 kb deletion with 29 bp insertion | HBA2, HBZ | Exact | HBZ-1 (436nt) | HBZP1 region-down (292nt) | HBA1-up (256nt) | HBA1-up (337nt) | Exact | NG_000006.1:g.[14373_36299del21927; insGGGAAGGGTGGGTGGGAATAACAGCTTTT] | Causative | 14373 | No other BP defined | No other BP defined | 36299 | 153502 | No other BP defined | No other BP defined | 175436 | 16 | α-locus | ||||
| 2479 | Toledo | LCRB | Exact | HBB-HS2 (292nt) | HBB-HS3 (233nt) | HBB-HS3 (233nt) | HBB-HS3 (330nt) | Exact | NG_000007.3:g.11835_13826del | Causative | 11835 | No other BP defined | No other BP defined | 13826 | 5283790 | No other BP defined | No other BP defined | 5285781 | 11 | β-locus | ||||
| 2497 | 49.98 kb (δβ)0 Indian del | HBB, HBBP1, HBD | Range | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBBP1-1 (445nt) | HBBP1-up (283nt) | Range | NC_000011.10:g.5194285_5244267del | Causative | 53349 | Information unclear | Information unclear | Out of locus | 5194285 | Information unclear | Information unclear | 5244267 | 11 | β-locus | ||||
| 2498 | 86.7 kb (Αγδβ)0 Indian del | HBB, HBBP1, HBD, HBG1 | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBG1&2-1 (180nt) | HBG1-up (409nt) | Exact | NC_000011.10:g.5164124_5250830delinsTG | Causative | 46786 | No other BP defined | No other BP defined | Out of locus | 5164124 | No other BP defined | No other BP defined | 5250830 | 11 | β-locus | ||||
| 2548 | Inv-Del English V | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Exact | HBG2-3 (427nt) | HBG2-up (373nt) | OR51B2-1 (298nt) | OR51M1-1 (253nt) | Exact | NC_000011.10:g.5194460_5253454invdel5194460_5194542del5253454_5375965 | Causative | Out of locus | No other BP defined | No other BP defined | 49080 | 5253454 | No other BP defined | No other BP defined | 5375965 | 11 | β-locus | ||||
| 2550 | African I duplication | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Exact | HBB-intr.2 (196nt) | HBB-intr.1 (154nt) | OR51B2-1 (298nt) | OR51M1-1 (253nt) | Exact | NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677 | Neutral | Out of locus | No other BP defined | No other BP defined | 70731 | 5226885 | No other BP defined | No other BP defined | 5372677 | 11 | β-locus | ||||
| 2551 | Austrian I | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 2554 | -α28.5 | HBA2, HBZ | Exact | HBZ region-up (364nt) | HBZ region-up (346nt) | HBA1-up (202nt) | HBA1-up (256nt) | Exact | NG_000006.1g.7065_35627del28563 | Causative | 7065 | No other BP defined | No other BP defined | 35627 | 146202 | No other BP defined | No other BP defined | 174764 | 16 | α-locus | ||||
| 2555 | α12 | HBA1, HBA2 | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 16 | α-locus | ||||
| 2561 | ααα(anti-3.7) | HBA1, HBA2 | Exact | HBA1&2-1 (214nt) | HBA2-intr.2 (160nt) | HBA1-intr.2 (165nt) | HBA1-intr.2 (250nt) | Exact | NG_000006.1:g.34247_38050dup | Modifier | 34247 | No other BP defined | No other BP defined | 38050 | 173384 | No other BP defined | No other BP defined | 177187 | 16 | α-locus | ||||
| 2562 | (αα)HS40del | HS40 | Range | No probe | POLR3K-3 (463nt) | HBA-HS40 (382nt) | HBZ region-up (364nt) | Range | NC_000016.10:g.(?_53625)_(113702_143677)del | Causative | BP extends beyond the MLPA probes | Information unclear | Out of locus | 4540 | BP extends beyond the MLPA probes | 53625 | 113702 | 143677 | 16 | α-locus | ||||
| 2566 | Caribbean | LCRB | Exact | HBB-HS2 (292nt) | HBB-HS2 (292nt) | HBB-HS4 (304nt) | HBB-HS5 (261nt) | Exact | NG_000007.3:g.8510_13369del | Causative | 8510 | No other BP defined | No other BP defined | 13369 | 5284241 | No other BP defined | No other BP defined | 5289100 | 11 | β-locus | ||||
| 2567 | BS duplication | HS40, HBA1, HBA2, HBZ | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | DECR2-4 (262nt) | No probe | Range | NC_000016.10:g.(85585_100579)_ (360915_410354)dup | Modifier | Out of locus | Out of locus | Out of locus | Out of locus | 85585 | 100579 | 360915 | 410354 | 16 | α-locus | ||||
| 2568 | FD duplication | HS40, HBA1, HBA2, HBZ | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Range | NC_000016.10:g.55826_(185840_187594)dup | Modifier | Out of locus | No other BP defined | Out of locus | Out of locus | 55826 | No other BP defined | 185840 | 187594 | 16 | α-locus | ||||
| 2569 | ααα(anti-4.2) | HBA2 | Range | HBA2-up (373nt) | HBA2-up (147nt) | HBA1&2-3 (172nt) | HBA1-up (190nt) | Range | NG_000006.1:g.(31957_31978)_(34525_34544)dup | Modifier | 31957 | 31978 | 34525 | 34544 | 171094 | 171115 | 173662 | 173681 | 16 | α-locus | ||||
| 2570 | Sardinian duplication | HS40, HBA1, HBA2, HBZ | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Modifier | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 16 | α-locus | ||||
| 3018 | --NOR | HBA1, HBA2 | Exact | HBA2-up (373nt) | HBA2-up (147nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.170694_184101del | Causative | 31577 | No other BP defined | No other BP defined | Out of locus | 170694 | No other BP defined | No other BP defined | 184101 | 16 | α-locus | ||||
| 3020 | --DANE | HBA1, HBA2, HBZ | Exact | HBZ region-up (364nt) | HBZ region-up (346nt) | HBA1-down (283nt) | HBA1-down (310nt) | Exact | NG_000006.1: g.8800_40007del31208 | Causative | 8800 | No other BP defined | No other BP defined | 40007 | 147938 | No other BP defined | No other BP defined | 179144 | 16 | α-locus | ||||
| 3021 | --JAL | HBA1, HBA2, HBZ | Range | HBZ region-up (346nt) | HBZ-1 (436nt) | HBA1-down (283nt) | HBA1-down (310nt) | Range | NC_000016.10:g.(149437_149482)_(179595_179654)del | Causative | 10300 | 10345 | 40458 | 40517 | 149437 | 149482 | 179595 | 179654 | 16 | α-locus | ||||
| 3022 | --LOD | HS40, HBA1, HBA2, HBZ | Range | No probe | POLR3K-3 (463nt) | ITFG3-intr 01 (445nt) | RGS11-10 (472nt) | Range | NC_000016.10:g.(45349_45393)_(262286_262330)del | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 45349 | 45393 | 262286 | 262330 | 16 | α-locus | ||||
| 3067 | --MEX1 | HBA1, HBA2 | Range | HBA2-up (328nt) | HBA1&2-1 (220nt) | HBA1-down (310nt) | HBQ1-3 (400nt) | Range | NG_000006.1:g.3(33114_33812)_(40649_42021)del | Causative | 33114 | 33812 | 40649 | 42021 | 172251 | 172949 | 179786 | 181158 | 16 | α-locus | ||||
| 3068 | --MEX2 | HS40, HBA1, HBA2, HBZ | Range | HBA-HS40 (178nt) | HBA-HS40 (382nt) | ITFG3-intr 01 (445nt) | RGS11-10 (472nt) | Range | NC_000016.10:g.(113775_130542)_(208161_249560)del | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 113775 | 130542 | 208161 | 249560 | 16 | α-locus | ||||
| 3070 | αααα282 | HS40, HBA1, HBA2, HBZ, NPRL3 | Exact | No probe | POLR3K-3 (463nt) | LUC7L-5 (277nt) | ITFG3-intr 01 (445nt) | Exact | NC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200] | Modifier | Out of locus | No other BP defined | No other BP defined | Out of locus | 10001 | No other BP defined | No other BP defined | 232200 | 16 | α-locus | ||||
| 3071 | --235 | HS40, HBA1, HBA2, HBZ, NPRL3 | Exact | No probe | POLR3K-3 (463nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.10001_185264del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 10001 | No other BP defined | No other BP defined | 185264 | 16 | α-locus | ||||
| 3072 | 125 bp deletion | HBA1 | Exact | No probe | No probe | No probe | No probe | Exact | NG_000006.1: g.37040_37164del | Neutral | 37040 | No other BP defined | No other BP defined | 37164 | 176177 | No other BP defined | No other BP defined | 176301 | 16 | α-locus | This is a special case where MLPA probes could not be detected due to the size of the deletion. | |||
| 3073 | Italian (εγδβ)0 deletion | HBB, HBBP1, HBD, HBE1, HBG1, HBG2 | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | OR51B2-1 (298nt) | OR51M1-1 (253nt) | Exact | NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC] | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 5194397 | No other BP defined | No other BP defined | 5357192 | 11 | β-locus | ||||
| 3074 | (αα)JX | HS40 | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA-HS40 (382nt) | HBZ region-up (364nt) | Exact | NC_000016.10:g.113161_113902del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 113161 | No other BP defined | No other BP defined | 113902 | 16 | α-locus | ||||
| 3076 | αααα391 | HS40, HBA1, HBA2, HBZ, NPRL3 | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | DECR2-4 (262nt) | No probe | Exact | NC_000016.10:g.101440_492029dup | Modifier | Out of locus | No other BP defined | No other BP defined | Out of locus | 101440 | No other BP defined | No other BP defined | 492029 | 16 | α-locus | ||||
| 3112 | African II duplication | HBB, HBBP1, HBD, HBE1, HBG1, HBG2 | Exact | TRIM68-1 (160nt) | OR52A5-1 (227nt) | HBG2-up (373nt) | HBE1-1 (463nt) | Exact | NC_000011.10:g.5268938_5268939ins4619102_(5180070_5183700)ins(5216190_5222040)_5268938 | Neutral | 28678 | No other BP defined | No other BP defined | Out of locus | 4619102 | No other BP defined | No other BP defined | 5268938 | 11 | β-locus | ||||
| 3142 | -α6.3 | HBA2 | Exact | HBA2-up (391nt) | HBA2-up (373nt) | HBA1-up (226nt) | HBA1-intr.2 (165nt) | Exact | NG_000006.1:g.31022_37366del6344 | Causative | 31022 | No other BP defined | No other BP defined | 37366 | 170159 | No other BP defined | No other BP defined | 176503 | 16 | α-locus | ||||
| 3214 | 44.6 kb deletion | HBA1, HBA2, HBM, HBZ | Exact | HBZ region-up (364nt) | HBZ region-up (346nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.144215_188841del | Causative | 5078 | No other BP defined | No other BP defined | Out of locus | 144215 | No other BP defined | No other BP defined | 188841 | 16 | α-locus | ||||
| 3215 | --Braz | HBA1, HBA2 | Range | HBM region-up (184nt) | HBA2-up (391nt) | RGS11-10 (472nt) | AXIN1-11 (418nt) | Range | NC_000016.10:g.(167305_169853)_(239884_271794)del | Causative | 28168 | 30716 | Out of locus | Out of locus | 167305 | 169853 | 239884 | 271794 | 16 | α-locus | ||||
| 3244 | −KOZANI | HBA1, HBA2, HBZ | Range | HBA-HS40 (178nt) | HBA-HS40 (382nt) | DECR2-4 (262nt) | No probe | Range | NC_000016.10:g.(113686_143638)_(407521_?)del | Causative | Out of locus | 4501 | Out of locus | 0 | 113686 | 143638 | 407521 | BP extends beyond the MLPA probes | 16 | α-locus | ||||
| 3255 | --MEX3 | HBA1, HBA2, HBM, HBZ | Exact | HBZ region-up (346nt) | HBZ-1 (436nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.151479_182582del | Causative | 12342 | No other BP defined | No other BP defined | Out of locus | 151479 | No other BP defined | No other BP defined | 182582 | 16 | α-locus | ||||
| 3258 | --NFLD | HBA1, HBA2 | Exact | HBM region-up (184nt) | HBA2-up (391nt) | ITFG3-intr 01 (445nt) | RGS11-10 (472nt) | Exact | NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA | Causative | 30060 | No other BP defined | No other BP defined | Out of locus | 169197 | No other BP defined | No other BP defined | 259919 | 16 | α-locus | ||||
| 3265 | α-globin cluster triplication | HS40, HBA1, HBA2, HBM, HBZ | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | LUC7L-5 (277nt) | ITFG3-intr 01 (445nt) | Range | NC_000016.10:g.(53322_113530)_(181203_206337)dup | Modifier | Out of locus | Out of locus | Out of locus | Out of locus | 53322 | 113530 | 181203 | 206337 | 16 | α-locus | ||||
| 3268 | 811 bp deletion | HBA2 | Exact | HBA2-up (147nt) | HBA2-up (328nt) | HBA2-up (328nt) | HBA2-up (328nt) | Exact | NG_000006.1:g.32945_33755 | Causative | 32945 | No other BP defined | No other BP defined | 33755 | 172082 | No other BP defined | No other BP defined | 172892 | 16 | α-locus | ||||
| 3270 | Chinese I (εγδβ)0 | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, OR51V1 | Exact | TRIM68-1 (160nt) | OR52A5-1 (227nt) | HBE1-1 (463nt) | HBB-HS1 (240nt) | Exact | NC_000011.10:g.5036736_5270337del | Causative | 27279 | No other BP defined | No other BP defined | Out of locus | 5036736 | No other BP defined | No other BP defined | 5270337 | 11 | β-locus | ||||
| 3273 | --VS | HS40, AXIN1, HBA1, HBA2, HBM, HBZ | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | DECR2-4 (262nt) | No probe | Exact | NC_000016.10:g.(100364_105222)_(376261_986851)del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 100364 | No other BP defined | No other BP defined | 986851 | 16 | α-locus | ||||
| 3274 | --CBR | HS40, HBA1, HBA2, HBM, HBZ | Range | No probe | POLR3K-3 (463nt) | HBA1-down (310nt) | HBQ1-3 (400nt) | Range | NC_000016.10:g.(?_53322)_(177893_179815)del | Causative | BP extends beyond the MLPA probes | Out of locus | 38756 | 40678 | BP extends beyond the MLPA probes | 53322 | 177893 | 179815 | 16 | α-locus | ||||
| 3275 | (αα)ALT | HS40 | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA-HS40 (382nt) | HBZ region-up (364nt) | Exact | NC_000016.10:g.113194_116554delins39 | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 113194 | No other BP defined | No other BP defined | 116554 | 16 | α-locus | ||||
| 3277 | 538 bp deletion | HBB | Exact | HBB-intr.1 (154nt) | HBB-1 (WT) c.20A>T) (220nt) | HBB-1 (148nt) | HBB-up (365nt) | Exact | HBB:c.-464_74del | NG_000007.3:g.70131_70668del | Causative | 70131 | No other BP defined | No other BP defined | 70668 | 5226948 | No other BP defined | No other BP defined | 5227485 | 11 | β-locus | ||||
| 3283 | --JS | HBA1, HBA2 | Exact | HBA1-up (202nt) | HBA1-up (256nt) | HBA1-intr.2 (250nt) | HBA1-3 (154nt) | Exact | NG_000006.1:g.35801_38338delinsGGCCTCCCAACGGGCCCTCCTCCCCTCCT | Causative | 35801 | No other BP defined | No other BP defined | 38338 | 174938 | No other BP defined | No other BP defined | 177475 | 16 | α-locus | ||||
| 3284 | --PG | HS40, AXIN1, HBA1, HBA2, HBM, HBZ, NPRL3 | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | DECR2-4 (262nt) | No probe | Exact | NC_000016.10:g.93628_542759del450131 | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 93628 | No other BP defined | No other BP defined | 542759 | 16 | α-locus | ||||
| 3292 | 15 kb deletion | HBA1, HBA2, HBM | Exact | HBA2-up (328nt) | HBA1&2-1 (220nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.172736_187935del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 172736 | No other BP defined | No other BP defined | 187935 | 16 | α-locus | ||||
| 3293 | 97 kb deletion | HS40 | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBZ-1 (436nt) | HBZP1 region-down (292nt) | Exact | NC_000016.10:g.56407_153678del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 56407 | No other BP defined | No other BP defined | 153678 | 16 | α-locus | ||||
| 3294 | 22 kb deletion | HBA1, HBA2, HBM | Exact | HBZ-1 (436nt) | HBZP1 region-down (292nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NG_000006.1:g.20350_42078del | Causative | 20350 | No other BP defined | No other BP defined | 42078 | 159487 | No other BP defined | No other BP defined | 181215 | 16 | α-locus | ||||
| 3295 | 225 kb deletion | HS40, HBA1, HBA2, HBM, HBZ | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | RGS11-10 (472nt) | AXIN1-11 (418nt) | Exact | NC_000016.10:g.56407_281805del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 56407 | No other BP defined | No other BP defined | 281805 | 16 | α-locus | ||||
| 3296 | --GB | HBA1, HBA2, HBM | Range | HBZ region-up (346nt) | HBZ-1 (436nt) | HBA1-down (310nt) | HBQ1-3 (400nt) | Range | NG_000006.1:g.(13208_23659)_(38689_41963)del | Causative | 13208 | 23659 | 38689 | 41963 | 152345 | 162796 | 177826 | 181100 | 16 | α-locus | ||||
| 3307 | N/A | HBB, HBD | Exact | HBB-1 (WT) c.20A>T) (220nt) | HBB-1 (189nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.[63191_70603dup;63291_70703del] | Causative | 63191 | No other BP defined | No other BP defined | 70603 | 5227013 | No other BP defined | No other BP defined | 5234425 | 11 | β-locus | ||||
| 3327 | --GX | HS40, HBA1, HBA2, HBM, HBZ, NPRL3 | Range | No probe | POLR3K-3 (463nt) | ITFG3-intr 01 (445nt) | RGS11-10 (472nt) | Range | NC_000016.10:g.(41492_43628)_(247888_254167)del | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 41492 | 43628 | 247888 | 254167 | 16 | α-locus | ||||
| 3340 | Brazilian (εγδβ)0 | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB, OR51B2, OR51V1 | Range | OR52A5-1 (227nt) | OR52A1-1 (355nt) | OR51B2-1 (298nt) | OR51M1-1 (253nt) | Range | NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 5106498 | 5151836 | 5324046 | 5390135 | 11 | β-locus | ||||
| 3360 | 9.7 kb deletion | HBA1, HBA2 | Exact | HBA2-up (373nt) | HBA2-up (147nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NG_000006.1:g.32709_42418del | Causative | 32709 | No other BP defined | No other BP defined | 42418 | 171846 | No other BP defined | No other BP defined | 181555 | 16 | α-locus | ||||
| 3390 | βδβ hybrid | HBB, HBD | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Causative | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 11 | β-locus | ||||
| 3393 | 3.5 kb deletion | HBB | Exact | HBB-down (274nt) | HBB-down (173nt) | HBB-1 (148nt) | HBB-up (365nt) | Exact | NC_000011.10:g.5224302_5227791del3490bp | Causative | 69825 | No other BP defined | No other BP defined | 73314 | 5224302 | No other BP defined | No other BP defined | 5227791 | 11 | β-locus | ||||
| 3394 | 223 kb deletion | HBB, HBD | Exact | TRIM68-1 (160nt) | OR52A5-1 (227nt) | HBD-3 (391nt) | HBD-3 (346nt) | Exact | NC_000011.10:g.5010012_5232933del | Causative | 64683 | No other BP defined | No other BP defined | Out of locus | 5010012 | No other BP defined | No other BP defined | 5232933 | 11 | β-locus | ||||
| 3407 | (αα)JS | HS40, NPRL3 | Exact | No probe | POLR3K-3 (463nt) | HBA-HS40 (382nt) | HBZ region-up (364nt) | Exact | NC_000016.10:g.46628_126325del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 46628 | No other BP defined | No other BP defined | 126325 | 16 | α-locus | ||||
| 3408 | --60.2 | HBA1, HBA2, HBM, HBZ | Exact | HBZ region-up (364nt) | HBZ region-up (346nt) | LUC7L-5 (277nt) | ITFG3-intr 01 (445nt) | Exact | NC_000016.10:g.147589_207883del | Causative | 8452 | No other BP defined | No other BP defined | Out of locus | 147589 | No other BP defined | No other BP defined | 207883 | 16 | α-locus | ||||
| 3432 | Hkαα | α3.7 hybrid, HBA1, HBA2 | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Neutral | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 16 | α-locus | ||||
| 3433 | anti-Hkαα | HBA1, HBA2 | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Neutral | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 16 | α-locus | ||||
| 3440 | -αMAL3.5 | HBA2 | Exact | HBA2-up (373nt) | HBA2-up (147nt) | HBA1-up (256nt) | HBA1-up (337nt) | Exact | NG_000006.1:g.32745_36301del | Causative | 32745 | No other BP defined | No other BP defined | 36301 | 171882 | No other BP defined | No other BP defined | 175438 | 16 | α-locus | ||||
| 3514 | 170 kb deletion | AXIN1, HBA1, HBA2 | Exact | HBA2-up (328nt) | HBA1&2-1 (220nt) | AXIN1-11 (418nt) | DECR2-4 (262nt) | Exact | N/A | Causative | 33739 | No other BP defined | No other BP defined | Out of locus | 172876 | No other BP defined | No other BP defined | 355226 | 16 | α-locus | ||||
| 3570 | 1.78Mb εγδβ(0) del | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Range | No probe | TRIM68-1 (160nt) | OR51M1-1 (253nt) | No probe | Range | NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del | Causative | Out of locus | Out of locus | Out of locus | Out of locus | 4302665 | 4322227 | 6099443 | 6100105 | 11 | β-locus | ||||
| 3577 | 59 Kb deletion | HBE1, HBG1, HBG2, LCRB | Exact | HBD-1 (312nt) | HBD-up (420nt) | HBB-HS5 (261nt) | OR51B2-1 (298nt) | Exact | NC_000011.10:g.5236469_5295261del | Causative | 2355 | No other BP defined | No other BP defined | 61147 | 5236469 | No other BP defined | No other BP defined | 5295261 | 11 | β-locus | ||||
| 3578 | 2.2 Mb deletion | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Exact | No probe | TRIM68-1 (160nt) | OR51M1-1 (253nt) | No probe | Exact | NC_000011.10:g.4052720_6253287del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 4052720 | No other BP defined | No other BP defined | 6253287 | 11 | β-locus | ||||
| 3588 | --OY | HS40, HBA1, HBA2, HBZ | Exact | No probe | POLR3K-3 (463nt) | AXIN1-11 (418nt) | DECR2-4 (262nt) | Exact | NC_000016.10:g.0_318541del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | BP starts from the telomere | No other BP defined | No other BP defined | 318541 | 16 | α-locus | ||||
| 3595 | --CR | HBA1, HBA2, HBM, HBZ | Exact | HBZ region-up (364nt) | HBZ region-up (346nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.144215_188843del | Causative | 5078 | No other BP defined | No other BP defined | Out of locus | 144215 | No other BP defined | No other BP defined | 188843 | 16 | α-locus | ||||
| 3596 | Gγ duplication | HBG2 | Exact | HBG1-3 (436nt) | HBG1&2-2 (136nt) | HBG2-3 (427nt) | HBG2-up (373nt) | Exact | NG_000007.3:g.(41526_42954)_(48036_49186)del | Neutral | 42835 | No other BP defined | No other BP defined | 44428 | 5253188 | No other BP defined | No other BP defined | 5254781 | 11 | β-locus | ||||
| 3603 | -α6.9 | HBA2 | Exact | HBM region-up (184nt) | HBA2-up (391nt) | HBA1-up (337nt) | HBA1-up (226nt) | Exact | NG_000006.1:g.29785_36746del | Causative | 29785 | No other BP defined | No other BP defined | 36746 | 168922 | No other BP defined | No other BP defined | 175883 | 16 | α-locus | ||||
| 3606 | 177 Kb deletion | HBBP1, HBE1, HBG1, HBG2, LCRB, OR51B2, OR51B5, OR51B6, OR51M1 | Exact | HBD-up (420nt) | HBBP1-3 (382nt) | OR51M1-1 (253nt) | No probe | Exact | NC_000011.10:g.5241050_5418009del | Causative | Out of locus | No other BP defined | No other BP defined | 56566 | 5241050 | No other BP defined | No other BP defined | 5418009 | 11 | β-locus | ||||
| 3607 | 63 Kb deletion | HBA1, HBA2, HBZ | Range | HBA-HS40 (382nt) | HBZ region-up (364nt) | LUC7L-5 (277nt) | ITFG3-intr 01 (445nt) | Range | NC_000016.10:g.(143655_149367)_(181204_206338)del | Causative | 4518 | 10230 | 42067 | Out of locus | 143655 | 149367 | 181204 | 206338 | 16 | α-locus | ||||
| 3622 | --71.8 (71.8 Kb deletion) | HBA1, HBA2, HBZ | Exact | HBA-HS40 (382nt) | HBZ region-up (364nt) | LUC7L-5 (277nt) | ITFG3-intr 01 (445nt) | Exact | NC_000016.10:g.138971_210817del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 138971 | No other BP defined | No other BP defined | 210817 | 16 | α-locus | ||||
| 3663 | HS-40 deletion | HS40 | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA-HS40 (382nt) | HBZ region-up (364nt) | Range | NC_000016.10:g.(47217_113592)_(113687_143639)del | Causative | Out of locus | Out of locus | Out of locus | 4502 | 47217 | 113592 | 113687 | 143639 | 16 | α-locus | ||||
| 3711 | (αα)YD | HS40 | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBZ region-up (364nt) | HBZ region-up (346nt) | Exact | NC_000016.10:g.94096_147948del | Causative | Out of locus | No other BP defined | No other BP defined | 8811 | 94096 | No other BP defined | No other BP defined | 147948 | 16 | α-locus | ||||
| 3792 | N/A | HBB, HBD | Exact | HBB-1 (WT) c.20A>T) (220nt) | HBB-1 (189nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.63154_70565del | Causative | 63154 | No other BP defined | No other BP defined | 70565 | 5227051 | No other BP defined | No other BP defined | 5234462 | 11 | β-locus | ||||
| 3821 | --196 | HS40, HBA1, HBA2, HBM, HBZ | Exact | No probe | POLR3K-3 (463nt) | ITFG3-intr 01 (445nt) | RGS11-10 (472nt) | Range | NC_000016.10:g.35880_(232158_243266)del | Causative | Out of locus | No other BP defined | Out of locus | Out of locus | 35880 | No other BP defined | 232158 | 243266 | 16 | α-locus | ||||
| 3822 | --227 | HS40, HBA1, HBA2, HBM, HBZ | Exact | No probe | POLR3K-3 (463nt) | ITFG3-intr 01 (445nt) | RGS11-10 (472nt) | Range | NC_000016.10:g.35880_(262740_268502)del | Causative | Out of locus | No other BP defined | Out of locus | Out of locus | 35880 | No other BP defined | 262740 | 268502 | 16 | α-locus | ||||
| 3823 | 60 kb deletion | HBB | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBB-up (365nt) | HBB-up (337nt) | Range | NC_000011.10:g.5167971_5228123delinsA | Causative | 69493 | No other BP defined | Out of locus | Out of locus | 5167971 | No other BP defined | No other BP defined | 5228123 | 11 | β-locus | ||||
| 3835 | 78.9 kb Gγ(Aγδβ)0 del | HBB, HBBP1, HBD, HBG1, OR52Z1-OR51V1 | Exact | OR52A1-1 (355nt) | OR51V1-1 (486nt) | HBG1-3 (436nt) | HBG1&2-2 (136nt) | Exact | NC_000011.10:g.5169895_5248821delins5216274_5216309 | Causative | 81343 | No other BP defined | No other BP defined | Out of locus | 5169895 | No other BP defined | No other BP defined | 5248821 | 11 | β-locus | ||||
| 3849 | ~72 kb εγδβ(0) del | HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB | Range | OR51V1-1 (486nt) | HBB-down (274nt) | HBB-HS5 (261nt) | OR51B2-1 (298nt) | Range | NC_000011.10:g.(5200032_5215881)_(5288356_5295076)del | Causative | 2540 | 9260 | Out of locus | Out of locus | 5200032 | 5215881 | 5288356 | 5295076 | 11 | β-locus | ||||
| 3867 | >6.5 Kb deletion | HBB, HBD | Range | HBB-3 (166nt) | HBB-intr.2 (196nt) | HBD-1 (312nt) | HBD-up (420nt) | Range | NG_000007.3:g.(63032_64585)_(71150_72080)del | Causative | 63032 | 64585 | 71150 | 72080 | 5225536 | 5226466 | 5233031 | 5234584 | 11 | β-locus | ||||
| 3868 | >35.3 Kb deletion | HBBP1, HBD, HBE1, HBG1, HBG2 | Range | HBD-3 (346nt) | HBD-1 (312nt) | HBB-HS1 (240nt) | HBB-HS2 (292nt) | Range | NG_000007.3:g.(21655_27675)_(63032_64586)del | Causative | 21655 | 27675 | 63032 | 64586 | 5233030 | 5234582 | 5269941 | 5275961 | 11 | β-locus | ||||
| 3869 | >29.5 Kb duplication | HBB, HBBP1, HBD, HBG1, HBG2 | Range | HBB-3 (166nt) | HBB-intr.2 (196nt) | HBE1-1 (463nt) | HBB-HS1 (240nt) | Range | NG_000007.3:g.(27675_41485)_(71150_72080)dup | Causative | 27675 | 41485 | 71150 | 72080 | 5225536 | 5226466 | 5256131 | 5269941 | 11 | β-locus | ||||
| 3886 | (αα)107kb deletion | HS40, NPRL3 | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBZ region-up (346nt) | HBZ-1 (436nt) | Exact | NC_000016.10:g.44025_151478del | Causative | Out of locus | No other BP defined | No other BP defined | 12341 | 44025 | No other BP defined | No other BP defined | 151478 | 16 | α-locus | ||||
| 3889 | (αα)Aurora Borealis | HS40, HBM, HBZ, NPRL3 | Range | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBM region-up (184nt) | HBA2-up (391nt) | Range | NC_000016.10:g.(48303_50379)_ (165612_167685)del | Causative | Out of locus | Out of locus | 26475 | 28548 | 48303 | 50379 | 165612 | 167685 | 16 | α-locus | ||||
| 3935 | 12.4 kb Mediterranean deletion | LCRB | Exact | HBB-HS2 (292nt) | HBB-HS3 (233nt) | HBB-HS4 (304nt) | HBB-HS5 (261nt) | Exact | NG_000007.3:g.2798_15161delinsAGAGCCCT | Causative | 2798 | No other BP defined | No other BP defined | 15161 | 5282455 | No other BP defined | No other BP defined | 5294818 | 11 | β-locus | ||||
| 3936 | Italian HS1 | LCRB | Exact | HBE1-1 (463nt) | HBB-HS1 (240nt) | HBB-HS1 (240nt) | HBB-HS2 (292nt) | Exact | NG_000007.3:g.21088_24120del | Neutral | 21088 | No other BP defined | No other BP defined | 24120 | 5273496 | No other BP defined | No other BP defined | 5276528 | 11 | β-locus | ||||
| 3937 | 188.7 kb dup | HS40, HBA1, HBA2, HBM, HBZ, NPRL3 | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | ITFG3-intr 01 (445nt) | RGS11-10 (472nt) | Exact | NC_000016.10:g.62166_250991del | Modifier | Out of locus | No other BP defined | No other BP defined | Out of locus | 62166 | No other BP defined | No other BP defined | 250991 | 16 | α-locus | ||||
| 3938 | 120.5 kb dup | HS40, HBA1, HBA2, HBM, HBZ, NPRL3 | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | LUC7L-5 (277nt) | ITFG3-intr 01 (445nt) | Exact | NC_000016.10:g.98546_219042del | Modifier | Out of locus | No other BP defined | No other BP defined | Out of locus | 98546 | No other BP defined | No other BP defined | 219042 | 16 | α-locus | ||||
| 3939 | ~274 kb dup | HS40, AXIN1, HBA1, HBA2, HBM, HBZ, NPRL3 | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | N/A | Modifier | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | Information unclear | 16 | α-locus | ||||
| 3945 | 15.8 kb deletion | HBA1, HBA2, HBM | Exact | HBZP1 region-down (292nt) | HBM region-up (184nt) | HBA1-down (310nt) | HBQ1-3 (400nt) | Exact | NC_000016.10:g.163886_179768del | Causative | 24749 | No other BP defined | No other BP defined | 40631 | 163886 | No other BP defined | No other BP defined | 179768 | 16 | α-locus | ||||
| 3946 | 16 kb HS-40 deletion | HS40, NPRL3 | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA-HS40 (382nt) | HBZ region-up (364nt) | Exact | NC_000016.10:g.100600_116678del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 100600 | No other BP defined | No other BP defined | 116678 | 16 | α-locus | ||||
| 3947 | 27.3 kb deletion | HBA1, HBA2, HBM | Exact | HBZ-1 (436nt) | HBZP1 region-down (292nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.158664_185974del | Causative | 19527 | No other BP defined | No other BP defined | Out of locus | 158664 | No other BP defined | No other BP defined | 185974 | 16 | α-locus | ||||
| 3957 | 68.9 kb HS-40 deletion | HS40, NPRL3 | Exact | POLR3K-3 (463nt) | HBA-HS40 (178nt) | HBA-HS40 (382nt) | HBZ region-up (364nt) | Exact | NC_000016.10:g.52778_121630del | Causative | Out of locus | No other BP defined | No other BP defined | Out of locus | 52778 | No other BP defined | No other BP defined | 121630 | 16 | α-locus | ||||
| 3958 | 8.2 kb deletion | HBB | Exact | HBB-down (274nt) | HBB-down (173nt) | HBB-up (337nt) | HBD-3 (391nt) | Exact | NG_000007.3:g.65147_73407del | Causative | 65147 | No other BP defined | No other BP defined | 73407 | 5224209 | No other BP defined | No other BP defined | 5232469 | 11 | β-locus | ||||
| 3959 | HBG1-HBG2 deletion | HBG1, HBG2 | Exact | HBG1-3 (436nt) | HBG1&2-2 (136nt) | HBG2-3 (427nt) | HBG2-up (373nt) | Exact | NG_000007.3:g.43348_48271del | Neutral | 43348 | No other BP defined | No other BP defined | 48271 | 5249345 | No other BP defined | No other BP defined | 5254268 | 11 | β-locus | ||||
| 3963 | 32.8 kb deletion | HBA1, HBA2, HBM, HBZ | Exact | HBZ region-up (346nt) | HBZ-1 (436nt) | HBQ1-3 (400nt) | LUC7L-5 (277nt) | Exact | NC_000016.10:g.149860_182697del | Causative | 10723 | No other BP defined | No other BP defined | Out of locus | 149860 | No other BP defined | No other BP defined | 182697 | 16 | α-locus | ||||
| 3964 | Hb Anti-Lepore Liuzhou | HBB, HBD | Exact | HBB-1 (WT) c.20A>T) (220nt) | HBB-1 (189nt) | HBD-3 (346nt) | HBD-1 (312nt) | Exact | NG_000007.3:g.63154_70565dup | Causative | 63154 | No other BP defined | No other BP defined | 70565 | 15227051 | No other BP defined | No other BP defined | 5234462 | 11 | β-locus | ||||
| 3966 | 5.9 kb deletion | HBA2 | Exact | HBA2-up (391nt) | HBA2-up (373nt) | HBA1-up (337nt) | HBA1-up (226nt) | Exact | NG_000006.1:g.30779_36726del | Causative | 30779 | No other BP defined | No other BP defined | 36726 | 169916 | No other BP defined | No other BP defined | 175863 | 16 | α-locus | ||||
| 3971 | Tunisian (δβ)0 | HBB, HBD | Exact | HBB-down (274nt) | HBB-down (173nt) | HBD-up (420nt) | HBBP1-3 (382nt) | Exact | NG_000007.3:g.58253_72837del | Causative | 58253 | No other BP defined | No other BP defined | 72837 | 5224779 | No other BP defined | No other BP defined | 5239363 | 11 | β-locus | ||||
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