UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.171847_181556del | CA916083461 | ClinVar | ||
| 16 | g.172001_181401del | CA916083462 | ClinVar | ||
| 16 | g.172005_177200del | CA16602274 | ClinVar | ||
| 16 | g.173384_177187del | CA16602246 | ClinVar | ||
| 16 | g.173510_173521del | CA2695221223 | HBA2 | c.339_350del (p.His113_Glu117delinsGln) c.243_254del (p.His81_Glu85delinsGln) n.475_486del | |
| 16 | g.173510_173522delinsCCTCCCCGCCGAG | CA2200880917 | HBA2 | c.339_351delinsCCTCCCCGCCGAG (p.His113=) c.243_255delinsCCTCCCCGCCGAG (p.His81=) n.475_487delinsCCTCCCCGCCGAG | |
| 16 | g.173511_173522del | CA16602271 | HBA2 | c.340_351del (p.Leu114_Glu117del) c.244_255del (p.Leu82_Glu85del) n.476_487del | dbSNP |
| 16 | g.173515_173516dup | CA2630737884 | HBA2 | c.344_345dup (p.Ala116ProfsTer19) c.248_249dup (p.Ala84ProfsTer19) n.480_481dup | gnomAD v4 |
| 16 | g.173516del | CA7770179 | HBA2 | c.345del (p.Ala116ProfsTer18) c.249del (p.Ala84ProfsTer18) n.481del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.173514_173517delinsCCCG | CA2200880922 | HBA2 | c.343_346delinsCCCG (p.Pro115=) c.247_250delinsCCCG (p.Pro83=) n.479_482delinsCCCG | |
| 16 | g.173518_173520del | CA276415381 | HBA2 | c.347_349del (p.Ala116del) c.251_253del (p.Ala84del) n.483_485del | dbSNP gnomAD v4 |
| 16 | g.173516C>A | CA492785261 | HBA2 | c.345C>A (p.Pro115=) c.249C>A (p.Pro83=) n.481C>A | |
| 16 | g.173516C= | CA2200880925 | HBA2 | c.345C= (p.Pro115=) c.249C= (p.Pro83=) n.481C= | |
| 16 | g.173516C>G | CA492785259 | HBA2 | c.345C>G (p.Pro115=) c.249C>G (p.Pro83=) n.481C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173516C>T | CA492785257 | HBA2 | c.345C>T (p.Pro115=) c.249C>T (p.Pro83=) n.481C>T | dbSNP |
| 16 | g.173517G>A | CA393994484 | HBA2 | c.346G>A (p.Ala116Thr) c.250G>A (p.Ala84Thr) n.482G>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173517G>C | CA393994486 | HBA2 | c.346G>C (p.Ala116Pro) c.250G>C (p.Ala84Pro) n.482G>C | |
| 16 | g.173517G= | CA2200880926 | HBA2 | c.346G= (p.Ala116=) c.250G= (p.Ala84=) n.482G= | |
| 16 | g.173517G>T | CA393994487 | HBA2 | c.346G>T (p.Ala116Ser) c.250G>T (p.Ala84Ser) n.482G>T | |
| 16 | g.173518C>A | CA276415392 | HBA2 | c.347C>A (p.Ala116Asp) c.251C>A (p.Ala84Asp) n.483C>A | dbSNP gnomAD v4 |
| 16 | g.173518C= | CA2200880927 | HBA2 | c.347C= (p.Ala116=) c.251C= (p.Ala84=) n.483C= | |
| 16 | g.173518C>G | CA393994489 | HBA2 | c.347C>G (p.Ala116Gly) c.251C>G (p.Ala84Gly) n.483C>G | |
| 16 | g.173518C>T | CA393994491 | HBA2 | c.347C>T (p.Ala116Val) c.251C>T (p.Ala84Val) n.483C>T | |
| 16 | g.173520_173530del | CA2695221225 | HBA2 | c.349_359del (p.Glu117CysfsTer?) c.253_263del (p.Glu85CysfsTer?) n.485_495del | |
| 16 | g.173519C>A | CA492785272 | HBA2 | c.348C>A (p.Ala116=) c.252C>A (p.Ala84=) n.484C>A | |
| 16 | g.173519C= | CA2200880928 | HBA2 | c.348C= (p.Ala116=) c.252C= (p.Ala84=) n.484C= | |
| 16 | g.173519C>G | CA492785275 | HBA2 | c.348C>G (p.Ala116=) c.252C>G (p.Ala84=) n.484C>G | dbSNP |
| 16 | g.173519C>T | CA492785279 | HBA2 | c.348C>T (p.Ala116=) c.252C>T (p.Ala84=) n.484C>T | |
| 16 | g.173520G>A | CA276415405 | HBA2 | c.349G>A (p.Glu117Lys) c.253G>A (p.Glu85Lys) n.485G>A | ClinVar dbSNP |
| 16 | g.173520G>C | CA276415410 | HBA2 | c.349G>C (p.Glu117Gln) c.253G>C (p.Glu85Gln) n.485G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173520G= | CA2200880929 | HBA2 | c.349G= (p.Glu117=) c.253G= (p.Glu85=) n.485G= | |
| 16 | g.173520G>T | CA281647 | HBA2 | c.349G>T (p.Glu117Ter) c.253G>T (p.Glu85Ter) n.485G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173521A= | CA2200880930 | HBA2 | c.350A= (p.Glu117=) c.254A= (p.Glu85=) n.486A= | |
| 16 | g.173521A>C | CA276415415 | HBA2 | c.350A>C (p.Glu117Ala) c.254A>C (p.Glu85Ala) n.486A>C | dbSNP |
| 16 | g.173521A>G | CA393994494 | HBA2 | c.350A>G (p.Glu117Gly) c.254A>G (p.Glu85Gly) n.486A>G | |
| 16 | g.173521A>T | CA276415416 | HBA2 | c.350A>T (p.Glu117Val) c.254A>T (p.Glu85Val) n.486A>T | dbSNP |
| 16 | g.173522G>A | CA492785296 | HBA2 | c.351G>A (p.Glu117=) c.255G>A (p.Glu85=) n.487G>A | |
| 16 | g.173522G>C | CA393994496 | HBA2 | c.351G>C (p.Glu117Asp) c.255G>C (p.Glu85Asp) n.487G>C | |
| 16 | g.173522G>T | CA393994497 | HBA2 | c.351G>T (p.Glu117Asp) c.255G>T (p.Glu85Asp) n.487G>T | |
| 16 | g.173523T>A | CA276415420 | HBA2 | c.352T>A (p.Phe118Ile) c.256T>A (p.Phe86Ile) n.488T>A | dbSNP |
| 16 | g.173523T>C | CA393994501 | HBA2 | c.352T>C (p.Phe118Leu) c.256T>C (p.Phe86Leu) n.488T>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173523T>G | CA393994499 | HBA2 | c.352T>G (p.Phe118Val) c.256T>G (p.Phe86Val) n.488T>G | |
| 16 | g.173523T= | CA2200880931 | HBA2 | c.352T= (p.Phe118=) c.256T= (p.Phe86=) n.488T= | |
| 16 | g.173524T>A | CA393994503 | HBA2 | c.353T>A (p.Phe118Tyr) c.257T>A (p.Phe86Tyr) n.489T>A | |
| 16 | g.173524T>C | CA393994505 | HBA2 | c.353T>C (p.Phe118Ser) c.257T>C (p.Phe86Ser) n.489T>C | |
| 16 | g.173524T>G | CA393994507 | HBA2 | c.353T>G (p.Phe118Cys) c.257T>G (p.Phe86Cys) n.489T>G | |
| 16 | g.173525C>A | CA393994508 | HBA2 | c.354C>A (p.Phe118Leu) c.258C>A (p.Phe86Leu) n.490C>A | |
| 16 | g.173525C>G | CA393994510 | HBA2 | c.354C>G (p.Phe118Leu) c.258C>G (p.Phe86Leu) n.490C>G | |
| 16 | g.173525C>T | CA492785312 | HBA2 | c.354C>T (p.Phe118=) c.258C>T (p.Phe86=) n.490C>T | |
| 16 | g.173526A>C | CA393994512 | HBA2 | c.355A>C (p.Thr119Pro) c.259A>C (p.Thr87Pro) n.491A>C | |
| 16 | g.173526A>G | CA393994514 | HBA2 | c.355A>G (p.Thr119Ala) c.259A>G (p.Thr87Ala) n.491A>G | |
| 16 | g.173526A>T | CA393994515 | HBA2 | c.355A>T (p.Thr119Ser) c.259A>T (p.Thr87Ser) n.491A>T | |
| 16 | g.173526_173527delinsAC | CA2200880932 | HBA2 | c.355_356delinsAC (p.Thr119=) c.259_260delinsAC (p.Thr87=) n.491_492delinsAC | |
| 16 | g.173527C>A | CA393994516 | HBA2 | c.356C>A (p.Thr119Asn) c.260C>A (p.Thr87Asn) n.492C>A | gnomAD v4 |
| 16 | g.173527C= | CA2200880933 | HBA2 | c.356C= (p.Thr119=) c.260C= (p.Thr87=) n.492C= | |
| 16 | g.173527C>G | CA393994517 | HBA2 | c.356C>G (p.Thr119Ser) c.260C>G (p.Thr87Ser) n.492C>G | |
| 16 | g.173527C>T | CA393994518 | HBA2 | c.356C>T (p.Thr119Ile) c.260C>T (p.Thr87Ile) n.492C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173530del | CA620304415 | HBA2 | c.359del (p.Pro120LeufsTer14) c.263del (p.Pro88LeufsTer14) n.495del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173528C>A | CA492785325 | HBA2 | c.357C>A (p.Thr119=) c.261C>A (p.Thr87=) n.493C>A | |
| 16 | g.173528C= | CA2200880934 | HBA2 | c.357C= (p.Thr119=) c.261C= (p.Thr87=) n.493C= | |
| 16 | g.173528C>G | CA492785329 | HBA2 | c.357C>G (p.Thr119=) c.261C>G (p.Thr87=) n.493C>G | |
| 16 | g.173528C>T | CA276415421 | HBA2 | c.357C>T (p.Thr119=) c.261C>T (p.Thr87=) n.493C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173529C>A | CA393994521 | HBA2 | c.358C>A (p.Pro120Thr) c.262C>A (p.Pro88Thr) n.494C>A | gnomAD v4 |
| 16 | g.173529C= | CA2200880935 | HBA2 | c.358C= (p.Pro120=) c.262C= (p.Pro88=) n.494C= | |
| 16 | g.173529C>G | CA393994520 | HBA2 | c.358C>G (p.Pro120Ala) c.262C>G (p.Pro88Ala) n.494C>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.173529C>T | CA393994519 | HBA2 | c.358C>T (p.Pro120Ser) c.262C>T (p.Pro88Ser) n.494C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173530C>A | CA393994523 | HBA2 | c.359C>A (p.Pro120His) c.263C>A (p.Pro88His) n.495C>A | |
| 16 | g.173530C= | CA2200880936 | HBA2 | c.359C= (p.Pro120=) c.263C= (p.Pro88=) n.495C= | |
| 16 | g.173530C>G | CA393994524 | HBA2 | c.359C>G (p.Pro120Arg) c.263C>G (p.Pro88Arg) n.495C>G | |
| 16 | g.173530C>T | CA276415422 | HBA2 | c.359C>T (p.Pro120Leu) c.263C>T (p.Pro88Leu) n.495C>T | dbSNP |
| 16 | g.173531T>A | CA492785340 | HBA2 | c.360T>A (p.Pro120=) c.264T>A (p.Pro88=) n.496T>A | gnomAD v4 |
| 16 | g.173531T>C | CA492785342 | HBA2 | c.360T>C (p.Pro120=) c.264T>C (p.Pro88=) n.496T>C | dbSNP gnomAD v4 |
| 16 | g.173531T>G | CA492785345 | HBA2 | c.360T>G (p.Pro120=) c.264T>G (p.Pro88=) n.496T>G | |
| 16 | g.173531T= | CA2200880937 | HBA2 | c.360T= (p.Pro120=) c.264T= (p.Pro88=) n.496T= | |
| 16 | g.173532G>A | CA393994526 | HBA2 | c.361G>A (p.Ala121Thr) c.265G>A (p.Ala89Thr) n.497G>A | |
| 16 | g.173532G>C | CA393994527 | HBA2 | c.361G>C (p.Ala121Pro) c.265G>C (p.Ala89Pro) n.497G>C | gnomAD v4 |
| 16 | g.173532G>T | CA393994529 | HBA2 | c.361G>T (p.Ala121Ser) c.265G>T (p.Ala89Ser) n.497G>T | |
| 16 | g.173532_173533delinsGC | CA2200880938 | HBA2 | c.361_362delinsGC (p.Ala121=) c.265_266delinsGC (p.Ala89=) n.497_498delinsGC | |
| 16 | g.173533del | CA718603791 | HBA2 | c.362del (p.Ala121GlyfsTer13) c.266del (p.Ala89GlyfsTer13) n.498del | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173533C>A | CA276415423 | HBA2 | c.362C>A (p.Ala121Glu) c.266C>A (p.Ala89Glu) n.498C>A | dbSNP |
| 16 | g.173533C= | CA2200880939 | HBA2 | c.362C= (p.Ala121=) c.266C= (p.Ala89=) n.498C= | |
| 16 | g.173533C>G | CA393994531 | HBA2 | c.362C>G (p.Ala121Gly) c.266C>G (p.Ala89Gly) n.498C>G | |
| 16 | g.173533C>T | CA393994533 | HBA2 | c.362C>T (p.Ala121Val) c.266C>T (p.Ala89Val) n.498C>T | gnomAD v4 |
| 16 | g.173534G>A | CA492785355 | HBA2 | c.363G>A (p.Ala121=) c.267G>A (p.Ala89=) n.499G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173534G>C | CA492785357 | HBA2 | c.363G>C (p.Ala121=) c.267G>C (p.Ala89=) n.499G>C | |
| 16 | g.173534G= | CA2200880940 | HBA2 | c.363G= (p.Ala121=) c.267G= (p.Ala89=) n.499G= | |
| 16 | g.173534G>T | CA492785359 | HBA2 | c.363G>T (p.Ala121=) c.267G>T (p.Ala89=) n.499G>T | gnomAD v4 |
| 16 | g.173535_173537dup | CA620304416 | HBA2 | c.364_366dup (p.Val122_His123insVal) c.268_270dup (p.Val90_His91insVal) n.500_502dup | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173535G>A | CA276415424 | HBA2 | c.364G>A (p.Val122Met) c.268G>A (p.Val90Met) n.500G>A | dbSNP |
| 16 | g.173535G>C | CA393994535 | HBA2 | c.364G>C (p.Val122Leu) c.268G>C (p.Val90Leu) n.500G>C | |
| 16 | g.173535G= | CA2200880941 | HBA2 | c.364G= (p.Val122=) c.268G= (p.Val90=) n.500G= | |
| 16 | g.173535G>T | CA393994536 | HBA2 | c.364G>T (p.Val122Leu) c.268G>T (p.Val90Leu) n.500G>T | |
| 16 | g.173536T>A | CA393994539 | HBA2 | c.365T>A (p.Val122Glu) c.269T>A (p.Val90Glu) n.501T>A | |
| 16 | g.173536T>C | CA393994540 | HBA2 | c.365T>C (p.Val122Ala) c.269T>C (p.Val90Ala) n.501T>C | |
| 16 | g.173536T>G | CA393994542 | HBA2 | c.365T>G (p.Val122Gly) c.269T>G (p.Val90Gly) n.501T>G | |
| 16 | g.173537G>A | CA492785374 | HBA2 | c.366G>A (p.Val122=) c.270G>A (p.Val90=) n.502G>A | |
| 16 | g.173537G>C | CA492785372 | HBA2 | c.366G>C (p.Val122=) c.270G>C (p.Val90=) n.502G>C | gnomAD v4 |
| 16 | g.173537G>T | CA492785373 | HBA2 | c.366G>T (p.Val122=) c.270G>T (p.Val90=) n.502G>T | |
| 16 | g.173538C>A | CA393994546 | HBA2 | c.367C>A (p.His123Asn) c.271C>A (p.His91Asn) n.503C>A | |
| 16 | g.173538C>G | CA393994543 | HBA2 | c.367C>G (p.His123Asp) c.271C>G (p.His91Asp) n.503C>G | |
| 16 | g.173538C>T | CA393994544 | HBA2 | c.367C>T (p.His123Tyr) c.271C>T (p.His91Tyr) n.503C>T | |
| 16 | g.173539A= | CA2200880942 | HBA2 | c.368A= (p.His123=) c.272A= (p.His91=) n.504A= | |
| 16 | g.173539A>C | CA393994548 | HBA2 | c.368A>C (p.His123Pro) c.272A>C (p.His91Pro) n.504A>C | |
| 16 | g.173539A>G | CA393994549 | HBA2 | c.368A>G (p.His123Arg) c.272A>G (p.His91Arg) n.504A>G | |
| 16 | g.173539A>T | CA276415426 | HBA2 | c.368A>T (p.His123Leu) c.272A>T (p.His91Leu) n.504A>T | dbSNP |
| 16 | g.173540C>A | CA393994551 | HBA2 | c.369C>A (p.His123Gln) c.273C>A (p.His91Gln) n.505C>A | ClinVar dbSNP gnomAD v2 |
| 16 | g.173540C= | CA2200880943 | HBA2 | c.369C= (p.His123=) c.273C= (p.His91=) n.505C= | |
| 16 | g.173540C>G | CA7770181 | HBA2 | c.369C>G (p.His123Gln) c.273C>G (p.His91Gln) n.505C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.173540C>T | CA492785390 | HBA2 | c.369C>T (p.His123=) c.273C>T (p.His91=) n.505C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173540_173541delinsGA | CA2695221226 | HBA2 | c.369_370delinsGA (p.His123_Ala124delinsGlnThr) c.273_274delinsGA (p.His91_Ala92delinsGlnThr) n.505_506delinsGA | |
| 16 | g.173541G>A | CA276415429 | HBA2 | c.370G>A (p.Ala124Thr) c.274G>A (p.Ala92Thr) n.506G>A | dbSNP |
| 16 | g.173541G>C | CA393994554 | HBA2 | c.370G>C (p.Ala124Pro) c.274G>C (p.Ala92Pro) n.506G>C | |
| 16 | g.173541G= | CA2200880944 | HBA2 | c.370G= (p.Ala124=) c.274G= (p.Ala92=) n.506G= | |
| 16 | g.173541G>T | CA276415431 | HBA2 | c.370G>T (p.Ala124Ser) c.274G>T (p.Ala92Ser) n.506G>T | dbSNP |
| 16 | g.173542C>A | CA393994557 | HBA2 | c.371C>A (p.Ala124Asp) c.275C>A (p.Ala92Asp) n.507C>A | |
| 16 | g.173542C>G | CA393994559 | HBA2 | c.371C>G (p.Ala124Gly) c.275C>G (p.Ala92Gly) n.507C>G | |
| 16 | g.173542C>T | CA393994560 | HBA2 | c.371C>T (p.Ala124Val) c.275C>T (p.Ala92Val) n.507C>T | |
| 16 | g.173543C>A | CA492785400 | HBA2 | c.372C>A (p.Ala124=) c.276C>A (p.Ala92=) n.508C>A | |
| 16 | g.173543C= | CA2200880945 | HBA2 | c.372C= (p.Ala124=) c.276C= (p.Ala92=) n.508C= | |
| 16 | g.173543C>G | CA492785403 | HBA2 | c.372C>G (p.Ala124=) c.276C>G (p.Ala92=) n.508C>G | |
| 16 | g.173543C>T | CA492785404 | HBA2 | c.372C>T (p.Ala124=) c.276C>T (p.Ala92=) n.508C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173544T>A | CA393994565 | HBA2 | c.373T>A (p.Ser125Thr) c.277T>A (p.Ser93Thr) n.509T>A | dbSNP |
| 16 | g.173544T>C | CA276415434 | HBA2 | c.373T>C (p.Ser125Pro) c.277T>C (p.Ser93Pro) n.509T>C | dbSNP gnomAD v4 |
| 16 | g.173544T>G | CA393994562 | HBA2 | c.373T>G (p.Ser125Ala) c.277T>G (p.Ser93Ala) n.509T>G | |
| 16 | g.173544T= | CA2200880946 | HBA2 | c.373T= (p.Ser125=) c.277T= (p.Ser93=) n.509T= | |
| 16 | g.173545C>A | CA393994567 | HBA2 | c.374C>A (p.Ser125Tyr) c.278C>A (p.Ser93Tyr) n.510C>A | |
| 16 | g.173545C>G | CA393994569 | HBA2 | c.374C>G (p.Ser125Cys) c.278C>G (p.Ser93Cys) n.510C>G | |
| 16 | g.173545C>T | CA393994571 | HBA2 | c.374C>T (p.Ser125Phe) c.278C>T (p.Ser93Phe) n.510C>T | gnomAD v4 COSMIC |
| 16 | g.173547dup | CA2695221227 | HBA2 | c.376dup (p.Leu126ProfsTer?) c.280dup (p.Leu94ProfsTer?) n.512dup | |
| 16 | g.173546C>A | CA492785415 | HBA2 | c.375C>A (p.Ser125=) c.279C>A (p.Ser93=) n.511C>A | |
| 16 | g.173546C= | CA2200880947 | HBA2 | c.375C= (p.Ser125=) c.279C= (p.Ser93=) n.511C= | |
| 16 | g.173546C>G | CA7770182 | HBA2 | c.375C>G (p.Ser125=) c.279C>G (p.Ser93=) n.511C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173546C>T | CA492785420 | HBA2 | c.375C>T (p.Ser125=) c.279C>T (p.Ser93=) n.511C>T | |
| 16 | g.173547C>A | CA393994573 | HBA2 | c.376C>A (p.Leu126Met) c.280C>A (p.Leu94Met) n.512C>A | |
| 16 | g.173547C>G | CA393994575 | HBA2 | c.376C>G (p.Leu126Val) c.280C>G (p.Leu94Val) n.512C>G | |
| 16 | g.173547C>T | CA492785423 | HBA2 | c.376C>T (p.Leu126=) c.280C>T (p.Leu94=) n.512C>T | dbSNP |
| 16 | g.173548T>A | CA276415438 | HBA2 | c.377T>A (p.Leu126Gln) c.281T>A (p.Leu94Gln) n.513T>A | ClinVar dbSNP |
| 16 | g.173548T>C | CA125557 | HBA2 | c.377T>C (p.Leu126Pro) c.281T>C (p.Leu94Pro) n.513T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173548T>G | CA125658 | HBA2 | c.377T>G (p.Leu126Arg) c.281T>G (p.Leu94Arg) n.513T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173548T= | CA2200880948 | HBA2 | c.377T= (p.Leu126=) c.281T= (p.Leu94=) n.513T= | |
| 16 | g.173549G>A | CA492785432 | HBA2 | c.378G>A (p.Leu126=) c.282G>A (p.Leu94=) n.514G>A | |
| 16 | g.173549G>C | CA492785433 | HBA2 | c.378G>C (p.Leu126=) c.282G>C (p.Leu94=) n.514G>C | |
| 16 | g.173549G>T | CA492785434 | HBA2 | c.378G>T (p.Leu126=) c.282G>T (p.Leu94=) n.514G>T | |
| 16 | g.173550G>A | CA125612 | HBA2 | c.379G>A (p.Asp127Asn) c.283G>A (p.Asp95Asn) n.515G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.173550G>C | CA276415450 | HBA2 | c.379G>C (p.Asp127His) c.283G>C (p.Asp95His) n.515G>C | dbSNP |
| 16 | g.173550G= | CA2200880949 | HBA2 | c.379G= (p.Asp127=) c.283G= (p.Asp95=) n.515G= | |
| 16 | g.173550G>T | CA276415446 | HBA2 | c.379G>T (p.Asp127Tyr) c.283G>T (p.Asp95Tyr) n.515G>T | ClinVar dbSNP COSMIC |
| 16 | g.173551A= | CA2200880950 | HBA2 | c.380A= (p.Asp127=) c.284A= (p.Asp95=) n.516A= | |
| 16 | g.173551A>C | CA393994579 | HBA2 | c.380A>C (p.Asp127Ala) c.284A>C (p.Asp95Ala) n.516A>C | |
| 16 | g.173551A>G | CA276415454 | HBA2 | c.380A>G (p.Asp127Gly) c.284A>G (p.Asp95Gly) n.516A>G | ClinVar dbSNP |
| 16 | g.173551A>T | CA276415455 | HBA2 | c.380A>T (p.Asp127Val) c.284A>T (p.Asp95Val) n.516A>T | dbSNP |
| 16 | g.173552C>A | CA393994581 | HBA2 | c.381C>A (p.Asp127Glu) c.285C>A (p.Asp95Glu) n.517C>A | dbSNP |
| 16 | g.173552C= | CA2200880951 | HBA2 | c.381C= (p.Asp127=) c.285C= (p.Asp95=) n.517C= | |
| 16 | g.173552C>G | CA393994582 | HBA2 | c.381C>G (p.Asp127Glu) c.285C>G (p.Asp95Glu) n.517C>G | dbSNP |
| 16 | g.173552C>T | CA492785444 | HBA2 | c.381C>T (p.Asp127=) c.285C>T (p.Asp95=) n.517C>T | |
| 16 | g.173553A= | CA2200880952 | HBA2 | c.382A= (p.Lys128=) c.286A= (p.Lys96=) n.518A= | |
| 16 | g.173553A>C | CA393994583 | HBA2 | c.382A>C (p.Lys128Gln) c.286A>C (p.Lys96Gln) n.518A>C | |
| 16 | g.173553A>G | CA276415458 | HBA2 | c.382A>G (p.Lys128Glu) c.286A>G (p.Lys96Glu) n.518A>G | dbSNP |
| 16 | g.173553A>T | CA393994585 | HBA2 | c.382A>T (p.Lys128Ter) c.286A>T (p.Lys96Ter) n.518A>T | |
| 16 | g.173554A= | CA2200880953 | HBA2 | c.383A= (p.Lys128=) c.287A= (p.Lys96=) n.519A= | |
| 16 | g.173554A>C | CA276415461 | HBA2 | c.383A>C (p.Lys128Thr) c.287A>C (p.Lys96Thr) n.519A>C | ClinVar dbSNP |
| 16 | g.173554A>G | CA393994588 | HBA2 | c.383A>G (p.Lys128Arg) c.287A>G (p.Lys96Arg) n.519A>G | |
| 16 | g.173554A>T | CA393994589 | HBA2 | c.383A>T (p.Lys128Met) c.287A>T (p.Lys96Met) n.519A>T | |
| 16 | g.173555G>A | CA492785453 | HBA2 | c.384G>A (p.Lys128=) c.288G>A (p.Lys96=) n.520G>A | |
| 16 | g.173555G>C | CA276415462 | HBA2 | c.384G>C (p.Lys128Asn) c.288G>C (p.Lys96Asn) n.520G>C | dbSNP gnomAD v4 |
| 16 | g.173555G= | CA2200880954 | HBA2 | c.384G= (p.Lys128=) c.288G= (p.Lys96=) n.520G= | |
| 16 | g.173555G>T | CA276415464 | HBA2 | c.384G>T (p.Lys128Asn) c.288G>T (p.Lys96Asn) n.520G>T | dbSNP |
| 16 | g.173556T>A | CA393994592 | HBA2 | c.385T>A (p.Phe129Ile) c.289T>A (p.Phe97Ile) n.521T>A | |
| 16 | g.173556T>C | CA393994594 | HBA2 | c.385T>C (p.Phe129Leu) c.289T>C (p.Phe97Leu) n.521T>C | gnomAD v4 |
| 16 | g.173556T>G | CA393994596 | HBA2 | c.385T>G (p.Phe129Val) c.289T>G (p.Phe97Val) n.521T>G | |
| 16 | g.173557T>A | CA393994601 | HBA2 | c.386T>A (p.Phe129Tyr) c.290T>A (p.Phe97Tyr) n.522T>A | |
| 16 | g.173557T>C | CA393994599 | HBA2 | c.386T>C (p.Phe129Ser) c.290T>C (p.Phe97Ser) n.522T>C | |
| 16 | g.173557T>G | CA393994597 | HBA2 | c.386T>G (p.Phe129Cys) c.290T>G (p.Phe97Cys) n.522T>G | |
| 16 | g.173558C>A | CA393994602 | HBA2 | c.387C>A (p.Phe129Leu) c.291C>A (p.Phe97Leu) n.523C>A | |
| 16 | g.173558C>G | CA393994603 | HBA2 | c.387C>G (p.Phe129Leu) c.291C>G (p.Phe97Leu) n.523C>G | |
| 16 | g.173558C>T | CA492785467 | HBA2 | c.387C>T (p.Phe129=) c.291C>T (p.Phe97=) n.523C>T | |
| 16 | g.173559del | CA2630737981 | HBA2 | c.388del (p.Leu130TrpfsTer4) c.292del (p.Leu98TrpfsTer4) n.524del | gnomAD v4 |
| 16 | g.173559C>A | CA393994605 | HBA2 | c.388C>A (p.Leu130Met) c.292C>A (p.Leu98Met) n.524C>A | |
| 16 | g.173559C>G | CA393994607 | HBA2 | c.388C>G (p.Leu130Val) c.292C>G (p.Leu98Val) n.524C>G | |
| 16 | g.173559C>T | CA492785474 | HBA2 | c.388C>T (p.Leu130=) c.292C>T (p.Leu98=) n.524C>T | |
| 16 | g.173560T>A | CA393994609 | HBA2 | c.389T>A (p.Leu130Gln) c.293T>A (p.Leu98Gln) n.525T>A | |
| 16 | g.173560T>C | CA276415466 | HBA2 | c.389T>C (p.Leu130Pro) c.293T>C (p.Leu98Pro) n.525T>C | ClinVar dbSNP |
| 16 | g.173560T>G | CA393994610 | HBA2 | c.389T>G (p.Leu130Arg) c.293T>G (p.Leu98Arg) n.525T>G | |
| 16 | g.173560T= | CA2200880955 | HBA2 | c.389T= (p.Leu130=) c.293T= (p.Leu98=) n.525T= | |
| 16 | g.173561G>A | CA492785480 | HBA2 | c.390G>A (p.Leu130=) c.294G>A (p.Leu98=) n.526G>A | gnomAD v4 |
| 16 | g.173561G>C | CA492785481 | HBA2 | c.390G>C (p.Leu130=) c.294G>C (p.Leu98=) n.526G>C | |
| 16 | g.173561G>T | CA492785484 | HBA2 | c.390G>T (p.Leu130=) c.294G>T (p.Leu98=) n.526G>T | |
| 16 | g.173562G>A | CA393994611 | HBA2 | c.391G>A (p.Ala131Thr) c.295G>A (p.Ala99Thr) n.527G>A | COSMIC |
| 16 | g.173562G>C | CA125576 | HBA2 | c.391G>C (p.Ala131Pro) c.295G>C (p.Ala99Pro) n.527G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173562G= | CA2200880956 | HBA2 | c.391G= (p.Ala131=) c.295G= (p.Ala99=) n.527G= | |
| 16 | g.173562G>T | CA393994614 | HBA2 | c.391G>T (p.Ala131Ser) c.295G>T (p.Ala99Ser) n.527G>T | |
| 16 | g.173563C>A | CA276415481 | HBA2 | c.392C>A (p.Ala131Asp) c.296C>A (p.Ala99Asp) n.528C>A | dbSNP |
| 16 | g.173563C= | CA2200880957 | HBA2 | c.392C= (p.Ala131=) c.296C= (p.Ala99=) n.528C= | |
| 16 | g.173563C>G | CA393994615 | HBA2 | c.392C>G (p.Ala131Gly) c.296C>G (p.Ala99Gly) n.528C>G | |
| 16 | g.173563C>T | CA393994617 | HBA2 | c.392C>T (p.Ala131Val) c.296C>T (p.Ala99Val) n.528C>T | |
| 16 | g.173564T>A | CA492785495 | HBA2 | c.393T>A (p.Ala131=) c.297T>A (p.Ala99=) n.529T>A | |
| 16 | g.173564T>C | CA492785504 | HBA2 | c.393T>C (p.Ala131=) c.297T>C (p.Ala99=) n.529T>C | |
| 16 | g.173564T>G | CA492785502 | HBA2 | c.393T>G (p.Ala131=) c.297T>G (p.Ala99=) n.529T>G | |
| 16 | g.173565T>A | CA393994619 | HBA2 | c.394T>A (p.Ser132Thr) c.298T>A (p.Ser100Thr) n.530T>A | gnomAD v4 |
| 16 | g.173565T>C | CA276415483 | HBA2 | c.394T>C (p.Ser132Pro) c.298T>C (p.Ser100Pro) n.530T>C | dbSNP |
| 16 | g.173565T>G | CA393994620 | HBA2 | c.394T>G (p.Ser132Ala) c.298T>G (p.Ser100Ala) n.530T>G | |
| 16 | g.173565T= | CA2200880958 | HBA2 | c.394T= (p.Ser132=) c.298T= (p.Ser100=) n.530T= | |
| 16 | g.173566C>A | CA393994624 | HBA2 | c.395C>A (p.Ser132Tyr) c.299C>A (p.Ser100Tyr) n.531C>A | |
| 16 | g.173566C= | CA2200880959 | HBA2 | c.395C= (p.Ser132=) c.299C= (p.Ser100=) n.531C= | |
| 16 | g.173566C>G | CA7770183 | HBA2 | c.395C>G (p.Ser132Cys) c.299C>G (p.Ser100Cys) n.531C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173566C>T | CA393994622 | HBA2 | c.395C>T (p.Ser132Phe) c.299C>T (p.Ser100Phe) n.531C>T | gnomAD v4 |
| 16 | g.173567T>A | CA492785510 | HBA2 | c.396T>A (p.Ser132=) c.300T>A (p.Ser100=) n.532T>A | |
| 16 | g.173567T>C | CA492785511 | HBA2 | c.396T>C (p.Ser132=) c.300T>C (p.Ser100=) n.532T>C | |
| 16 | g.173567T>G | CA492785513 | HBA2 | c.396T>G (p.Ser132=) c.300T>G (p.Ser100=) n.532T>G | |
| 16 | g.173568G>A | CA393994626 | HBA2 | c.397G>A (p.Val133Met) c.301G>A (p.Val101Met) n.533G>A | gnomAD v4 |
| 16 | g.173568G>C | CA393994627 | HBA2 | c.397G>C (p.Val133Leu) c.301G>C (p.Val101Leu) n.533G>C | |
| 16 | g.173568G>T | CA393994629 | HBA2 | c.397G>T (p.Val133Leu) c.301G>T (p.Val101Leu) n.533G>T | |
| 16 | g.173569T>A | CA393994630 | HBA2 | c.398T>A (p.Val133Glu) c.302T>A (p.Val101Glu) n.534T>A | |
| 16 | g.173569T>C | CA393994631 | HBA2 | c.398T>C (p.Val133Ala) c.302T>C (p.Val101Ala) n.534T>C | |
| 16 | g.173569T>G | CA276415487 | HBA2 | c.398T>G (p.Val133Gly) c.302T>G (p.Val101Gly) n.534T>G | dbSNP |
| 16 | g.173569T= | CA2200880960 | HBA2 | c.398T= (p.Val133=) c.302T= (p.Val101=) n.534T= | |
| 16 | g.173570G>A | CA492785525 | HBA2 | c.399G>A (p.Val133=) c.303G>A (p.Val101=) n.535G>A | |
| 16 | g.173570G>C | CA492785522 | HBA2 | c.399G>C (p.Val133=) c.303G>C (p.Val101=) n.535G>C | |
| 16 | g.173570G>T | CA492785524 | HBA2 | c.399G>T (p.Val133=) c.303G>T (p.Val101=) n.535G>T | |
| 16 | g.173571_173577del | CA2588340007 | HBA2 | c.400_406del (p.Ser134CysfsTer2) c.304_310del (p.Ser102CysfsTer2) n.536_542del | |
| 16 | g.173571A= | CA2200880961 | HBA2 | c.400A= (p.Ser134=) c.304A= (p.Ser102=) n.536A= | |
| 16 | g.173571A>C | CA276415491 | HBA2 | c.400A>C (p.Ser134Arg) c.304A>C (p.Ser102Arg) n.536A>C | dbSNP |
| 16 | g.173571A>G | CA393994633 | HBA2 | c.400A>G (p.Ser134Gly) c.304A>G (p.Ser102Gly) n.536A>G | |
| 16 | g.173571A>T | CA393994634 | HBA2 | c.400A>T (p.Ser134Cys) c.304A>T (p.Ser102Cys) n.536A>T | |
| 16 | g.173572G>A | CA276415494 | HBA2 | c.401G>A (p.Ser134Asn) c.305G>A (p.Ser102Asn) n.537G>A | dbSNP gnomAD v4 |
| 16 | g.173572G>C | CA393994636 | HBA2 | c.401G>C (p.Ser134Thr) c.305G>C (p.Ser102Thr) n.537G>C | |
| 16 | g.173572G= | CA2200880962 | HBA2 | c.401G= (p.Ser134=) c.305G= (p.Ser102=) n.537G= | |
| 16 | g.173572G>T | CA393994638 | HBA2 | c.401G>T (p.Ser134Ile) c.305G>T (p.Ser102Ile) n.537G>T | |
| 16 | g.173573C>A | CA125650 | HBA2 | c.402C>A (p.Ser134Arg) c.306C>A (p.Ser102Arg) n.538C>A | ClinVar dbSNP |
| 16 | g.173573C= | CA2200880963 | HBA2 | c.402C= (p.Ser134=) c.306C= (p.Ser102=) n.538C= | |
| 16 | g.173573C>G | CA276415497 | HBA2 | c.402C>G (p.Ser134Arg) c.306C>G (p.Ser102Arg) n.538C>G | dbSNP |
| 16 | g.173573C>T | CA492785537 | HBA2 | c.402C>T (p.Ser134=) c.306C>T (p.Ser102=) n.538C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173574A= | CA2200880964 | HBA2 | c.403A= (p.Thr135=) c.307A= (p.Thr103=) n.539A= | |
| 16 | g.173574A>C | CA393994642 | HBA2 | c.403A>C (p.Thr135Pro) c.307A>C (p.Thr103Pro) n.539A>C | |
| 16 | g.173574A>G | CA276415500 | HBA2 | c.403A>G (p.Thr135Ala) c.307A>G (p.Thr103Ala) n.539A>G | dbSNP |
| 16 | g.173574A>T | CA276415504 | HBA2 | c.403A>T (p.Thr135Ser) c.307A>T (p.Thr103Ser) n.539A>T | dbSNP |
| 16 | g.173575C>A | CA393994644 | HBA2 | c.404C>A (p.Thr135Asn) c.308C>A (p.Thr103Asn) n.540C>A | |
| 16 | g.173575C= | CA2200880965 | HBA2 | c.404C= (p.Thr135=) c.308C= (p.Thr103=) n.540C= | |
| 16 | g.173575C>G | CA276415508 | HBA2 | c.404C>G (p.Thr135Ser) c.308C>G (p.Thr103Ser) n.540C>G | dbSNP |
| 16 | g.173575C>T | CA393994646 | HBA2 | c.404C>T (p.Thr135Ile) c.308C>T (p.Thr103Ile) n.540C>T | ClinVar dbSNP |
| 16 | g.173576C>A | CA492785551 | HBA2 | c.405C>A (p.Thr135=) c.309C>A (p.Thr103=) n.541C>A | gnomAD v4 |
| 16 | g.173576C= | CA2200880966 | HBA2 | c.405C= (p.Thr135=) c.309C= (p.Thr103=) n.541C= | |
| 16 | g.173576C>G | CA492785548 | HBA2 | c.405C>G (p.Thr135=) c.309C>G (p.Thr103=) n.541C>G | gnomAD v4 |
| 16 | g.173576C>T | CA7770184 | HBA2 | c.405C>T (p.Thr135=) c.309C>T (p.Thr103=) n.541C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173577G>A | CA393994648 | HBA2 | c.406G>A (p.Val136Met) c.310G>A (p.Val104Met) n.542G>A | |
| 16 | g.173577G>C | CA276415511 | HBA2 | c.406G>C (p.Val136Leu) c.310G>C (p.Val104Leu) n.542G>C | dbSNP |
| 16 | g.173577G= | CA2200880967 | HBA2 | c.406G= (p.Val136=) c.310G= (p.Val104=) n.542G= | |
| 16 | g.173577G>T | CA393994651 | HBA2 | c.406G>T (p.Val136Leu) c.310G>T (p.Val104Leu) n.542G>T | |
| 16 | g.173578T>A | CA276415514 | HBA2 | c.407T>A (p.Val136Glu) c.311T>A (p.Val104Glu) n.543T>A | dbSNP |
| 16 | g.173578T>C | CA393994653 | HBA2 | c.407T>C (p.Val136Ala) c.311T>C (p.Val104Ala) n.543T>C | |
| 16 | g.173578T>G | CA393994654 | HBA2 | c.407T>G (p.Val136Gly) c.311T>G (p.Val104Gly) n.543T>G | |
| 16 | g.173578T= | CA2200880968 | HBA2 | c.407T= (p.Val136=) c.311T= (p.Val104=) n.543T= | |
| 16 | g.173579G>A | CA492785567 | HBA2 | c.408G>A (p.Val136=) c.312G>A (p.Val104=) n.544G>A | dbSNP gnomAD v2 |
| 16 | g.173579G>C | CA492785569 | HBA2 | c.408G>C (p.Val136=) c.312G>C (p.Val104=) n.544G>C | |
| 16 | g.173579G= | CA2200880969 | HBA2 | c.408G= (p.Val136=) c.312G= (p.Val104=) n.544G= | |
| 16 | g.173579G>T | CA492785571 | HBA2 | c.408G>T (p.Val136=) c.312G>T (p.Val104=) n.544G>T | |
| 16 | g.173580C>A | CA7770185 | HBA2 | c.409C>A (p.Leu137Met) c.313C>A (p.Leu105Met) n.545C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173580C= | CA2200880970 | HBA2 | c.409C= (p.Leu137=) c.313C= (p.Leu105=) n.545C= | |
| 16 | g.173580C>G | CA393994657 | HBA2 | c.409C>G (p.Leu137Val) c.313C>G (p.Leu105Val) n.545C>G | |
| 16 | g.173580C>T | CA492785577 | HBA2 | c.409C>T (p.Leu137=) c.313C>T (p.Leu105=) n.545C>T | |
| 16 | g.173581T>A | CA393994658 | HBA2 | c.410T>A (p.Leu137Gln) c.314T>A (p.Leu105Gln) n.546T>A | |
| 16 | g.173581T>C | CA215114 | HBA2 | c.410T>C (p.Leu137Pro) c.314T>C (p.Leu105Pro) n.546T>C | ClinVar dbSNP |
| 16 | g.173581T>G | CA276415519 | HBA2 | c.410T>G (p.Leu137Arg) c.314T>G (p.Leu105Arg) n.546T>G | dbSNP |
| 16 | g.173581T= | CA2200880971 | HBA2 | c.410T= (p.Leu137=) c.314T= (p.Leu105=) n.546T= | |
| 16 | g.173582G>A | CA492785585 | HBA2 | c.411G>A (p.Leu137=) c.315G>A (p.Leu105=) n.547G>A | dbSNP gnomAD v4 |
| 16 | g.173582G>C | CA492785587 | HBA2 | c.411G>C (p.Leu137=) c.315G>C (p.Leu105=) n.547G>C | |
| 16 | g.173582G= | CA2200880972 | HBA2 | c.411G= (p.Leu137=) c.315G= (p.Leu105=) n.547G= | |
| 16 | g.173582G>T | CA492785589 | HBA2 | c.411G>T (p.Leu137=) c.315G>T (p.Leu105=) n.547G>T | |
| 16 | g.173583A>C | CA393994662 | HBA2 | c.412A>C (p.Thr138Pro) c.316A>C (p.Thr106Pro) n.548A>C | |
| 16 | g.173583A>G | CA393994664 | HBA2 | c.412A>G (p.Thr138Ala) c.316A>G (p.Thr106Ala) n.548A>G | |
| 16 | g.173583A>T | CA393994663 | HBA2 | c.412A>T (p.Thr138Ser) c.316A>T (p.Thr106Ser) n.548A>T | |
| 16 | g.173584C>A | CA393994665 | HBA2 | c.413C>A (p.Thr138Asn) c.317C>A (p.Thr106Asn) n.549C>A | |
| 16 | g.173584C>G | CA393994667 | HBA2 | c.413C>G (p.Thr138Ser) c.317C>G (p.Thr106Ser) n.549C>G | |
| 16 | g.173584C>T | CA393994668 | HBA2 | c.413C>T (p.Thr138Ile) c.317C>T (p.Thr106Ile) n.549C>T | COSMIC |
| 16 | g.173585C>A | CA492785599 | HBA2 | c.414C>A (p.Thr138=) c.318C>A (p.Thr106=) n.550C>A | |
| 16 | g.173585C= | CA2200880973 | HBA2 | c.414C= (p.Thr138=) c.318C= (p.Thr106=) n.550C= | |
| 16 | g.173585C>G | CA492785601 | HBA2 | c.414C>G (p.Thr138=) c.318C>G (p.Thr106=) n.550C>G | |
| 16 | g.173585C>T | CA7770186 | HBA2 | c.414C>T (p.Thr138=) c.318C>T (p.Thr106=) n.550C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173586T>A | CA393994671 | HBA2 | c.415T>A (p.Ser139Thr) c.319T>A (p.Ser107Thr) n.551T>A | |
| 16 | g.173586T>C | CA276415526 | HBA2 | c.415T>C (p.Ser139Pro) c.319T>C (p.Ser107Pro) n.551T>C | dbSNP |
| 16 | g.173586T>G | CA393994672 | HBA2 | c.415T>G (p.Ser139Ala) c.319T>G (p.Ser107Ala) n.551T>G | |
| 16 | g.173586T= | CA2200880974 | HBA2 | c.415T= (p.Ser139=) c.319T= (p.Ser107=) n.551T= | |
| 16 | g.173587C>A | CA393994674 | HBA2 | c.416C>A (p.Ser139Tyr) c.320C>A (p.Ser107Tyr) n.552C>A | |
| 16 | g.173587C= | CA2200880975 | HBA2 | c.416C= (p.Ser139=) c.320C= (p.Ser107=) n.552C= | |
| 16 | g.173587C>G | CA393994676 | HBA2 | c.416C>G (p.Ser139Cys) c.320C>G (p.Ser107Cys) n.552C>G | COSMIC |
| 16 | g.173587C>T | CA276415530 | HBA2 | c.416C>T (p.Ser139Phe) c.320C>T (p.Ser107Phe) n.552C>T | dbSNP |
| 16 | g.173588C>A | CA7770187 | HBA2 | c.417C>A (p.Ser139=) c.321C>A (p.Ser107=) n.553C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173588C= | CA2200880977 | HBA2 | c.417C= (p.Ser139=) c.321C= (p.Ser107=) n.553C= | |
| 16 | g.173588C>G | CA492785617 | HBA2 | c.417C>G (p.Ser139=) c.321C>G (p.Ser107=) n.553C>G | |
| 16 | g.173588C>T | CA492785618 | HBA2 | c.417C>T (p.Ser139=) c.321C>T (p.Ser107=) n.553C>T | |
| 16 | g.173588_173589delinsCA | CA2200880976 | HBA2 | c.417_418delinsCA (p.Ser139=) c.321_322delinsCA (p.Ser107=) n.553_554delinsCA | |
| 16 | g.173589A= | CA2200880978 | HBA2 | c.418A= (p.Lys140=) c.322A= (p.Lys108=) n.554A= | |
| 16 | g.173589A>C | CA393994678 | HBA2 | c.418A>C (p.Lys140Gln) c.322A>C (p.Lys108Gln) n.554A>C | gnomAD v4 |
| 16 | g.173589A>G | CA125584 | HBA2 | c.418A>G (p.Lys140Glu) c.322A>G (p.Lys108Glu) n.554A>G | ClinVar dbSNP |
| 16 | g.173589A>T | CA393994680 | HBA2 | c.418A>T (p.Lys140Ter) c.322A>T (p.Lys108Ter) n.554A>T | |
| 16 | g.173591del | CA125556 | HBA2 | c.420del (p.Lys140AsnfsTer9) c.324del (p.Lys108AsnfsTer9) n.556del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173590A= | CA2200880979 | HBA2 | c.419A= (p.Lys140=) c.323A= (p.Lys108=) n.555A= | |
| 16 | g.173590A>C | CA276415543 | HBA2 | c.419A>C (p.Lys140Thr) c.323A>C (p.Lys108Thr) n.555A>C | dbSNP gnomAD v4 |
| 16 | g.173590A>G | CA393994681 | HBA2 | c.419A>G (p.Lys140Arg) c.323A>G (p.Lys108Arg) n.555A>G | |
| 16 | g.173590A>T | CA393994682 | HBA2 | c.419A>T (p.Lys140Ile) c.323A>T (p.Lys108Ile) n.555A>T | |
| 16 | g.173590_173591insT | CA1139664213 | HBA2 | c.419_420insT (p.Lys140AsnfsTer?) c.323_324insT (p.Lys108AsnfsTer?) n.555_556insT | ClinVar dbSNP |
| 16 | g.173591A= | CA2200880980 | HBA2 | c.420A= (p.Lys140=) c.324A= (p.Lys108=) n.556A= | |
| 16 | g.173591A>C | CA125644 | HBA2 | c.420A>C (p.Lys140Asn) c.324A>C (p.Lys108Asn) n.556A>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.173591A>G | CA492785641 | HBA2 | c.420A>G (p.Lys140=) c.324A>G (p.Lys108=) n.556A>G | |
| 16 | g.173591A>T | CA393994683 | HBA2 | c.420A>T (p.Lys140Asn) c.324A>T (p.Lys108Asn) n.556A>T | |
| 16 | g.173592T>A | CA393994684 | HBA2 | c.421T>A (p.Tyr141Asn) c.325T>A (p.Tyr109Asn) n.557T>A | |
| 16 | g.173592T>C | CA276415549 | HBA2 | c.421T>C (p.Tyr141His) c.325T>C (p.Tyr109His) n.557T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173592T>G | CA393994685 | HBA2 | c.421T>G (p.Tyr141Asp) c.325T>G (p.Tyr109Asp) n.557T>G | |
| 16 | g.173592T= | CA2200880981 | HBA2 | c.421T= (p.Tyr141=) c.325T= (p.Tyr109=) n.557T= | |
| 16 | g.173593A>C | CA393994686 | HBA2 | c.422A>C (p.Tyr141Ser) c.326A>C (p.Tyr109Ser) n.558A>C | gnomAD v4 |
| 16 | g.173593A>G | CA393994687 | HBA2 | c.422A>G (p.Tyr141Cys) c.326A>G (p.Tyr109Cys) n.558A>G | |
| 16 | g.173593A>T | CA393994688 | HBA2 | c.422A>T (p.Tyr141Phe) c.326A>T (p.Tyr109Phe) n.558A>T | |
| 16 | g.173594C>A | CA125604 | HBA2 | c.423C>A (p.Tyr141Ter) c.327C>A (p.Tyr109Ter) n.559C>A | ClinVar dbSNP |
| 16 | g.173594C= | CA2200880982 | HBA2 | c.423C= (p.Tyr141=) c.327C= (p.Tyr109=) n.559C= | |
| 16 | g.173594C>G | CA393994689 | HBA2 | c.423C>G (p.Tyr141Ter) c.327C>G (p.Tyr109Ter) n.559C>G | |
| 16 | g.173594C>T | CA492785652 | HBA2 | c.423C>T (p.Tyr141=) c.327C>T (p.Tyr109=) n.559C>T | |
| 16 | g.173595C>A | CA276415556 | HBA2 | c.424C>A (p.Arg142Ser) c.328C>A (p.Arg110Ser) n.560C>A | dbSNP |
| 16 | g.173595C= | CA2200880983 | HBA2 | c.424C= (p.Arg142=) c.328C= (p.Arg110=) n.560C= | |
| 16 | g.173595C>G | CA276415558 | HBA2 | c.424C>G (p.Arg142Gly) c.328C>G (p.Arg110Gly) n.560C>G | dbSNP |
| 16 | g.173595C>T | CA276415566 | HBA2 | c.424C>T (p.Arg142Cys) c.328C>T (p.Arg110Cys) n.560C>T | dbSNP |
| 16 | g.173596G>A | CA7770188 | HBA2 | c.425G>A (p.Arg142His) c.329G>A (p.Arg110His) n.561G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173596G>C | CA276415569 | HBA2 | c.425G>C (p.Arg142Pro) c.329G>C (p.Arg110Pro) n.561G>C | dbSNP |
| 16 | g.173596G= | CA2200880984 | HBA2 | c.425G= (p.Arg142=) c.329G= (p.Arg110=) n.561G= | |
| 16 | g.173596G>T | CA276415575 | HBA2 | c.425G>T (p.Arg142Leu) c.329G>T (p.Arg110Leu) n.561G>T | dbSNP |
| 16 | g.173597T>A | CA492785662 | HBA2 | c.426T>A (p.Arg142=) c.330T>A (p.Arg110=) n.562T>A | |
| 16 | g.173597T>C | CA492785664 | HBA2 | c.426T>C (p.Arg142=) c.330T>C (p.Arg110=) n.562T>C | |
| 16 | g.173597T>G | CA492785666 | HBA2 | c.426T>G (p.Arg142=) c.330T>G (p.Arg110=) n.562T>G | gnomAD v4 |
| 16 | g.173598T>A | CA125550 | HBA2 | c.427T>A (p.Ter143Lys) c.331T>A (p.Ter111Lys) n.563T>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.173598T>C | CA125546 | HBA2 | c.427T>C (p.Ter143Gln) c.331T>C (p.Ter111Gln) n.563T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173598T>G | CA125597 | HBA2 | c.427T>G (p.Ter143Glu) c.331T>G (p.Ter111Glu) n.563T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173598T= | CA2200880986 | HBA2 | c.427T= (p.Ter143=) c.331T= (p.Ter111=) n.563T= | |
| 16 | g.173598_173600delinsCAT | CA276415583 | HBA2 | c.427_429delinsCAT (p.Ter143His) c.331_333delinsCAT (p.Ter111His) n.563_565delinsCAT | dbSNP |
| 16 | g.173598_173600delinsTAA | CA2200880987 | HBA2 | c.427_429delinsTAA (p.Ter143=) c.331_333delinsTAA (p.Ter111=) n.563_565delinsTAA | |
| 16 | g.173598_173602delinsTAAGC | CA2200880985 | HBA2 | c.427_*2delinsTAAGC (n.[c.427_*2delinsTAAGC;Ter143=]) c.331_*2delinsTAAGC (n.[c.331_*2delinsTAAGC;Ter111=]) n.563_567delinsTAAGC | |
| 16 | g.173599A= | CA2200880988 | HBA2 | c.428A= (p.Ter143=) c.332A= (p.Ter111=) n.564A= | |
| 16 | g.173599A>C | CA125552 | HBA2 | c.428A>C (p.Ter143Ser) c.332A>C (p.Ter111Ser) n.564A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173599A>G | CA492785669 | HBA2 | c.428A>G (p.Ter143=) c.332A>G (p.Ter111=) n.564A>G | |
| 16 | g.173599A>T | CA393994690 | HBA2 | c.428A>T (p.Ter143Leu) c.332A>T (p.Ter111Leu) n.564A>T | dbSNP |
| 16 | g.173599_173602del | CA973582662 | HBA2 | c.428_*2del (n.[c.428_*2del;Ter143LeuextTer5]) c.332_*2del (n.[c.332_*2del;Ter111LeuextTer5]) n.564_567del | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173600A= | CA2200880989 | HBA2 | c.429A= (p.Ter143=) c.333A= (p.Ter111=) n.565A= | |
| 16 | g.173600A>C | CA393994691 | HBA2 | c.429A>C (p.Ter143Tyr) c.333A>C (p.Ter111Tyr) n.565A>C | |
| 16 | g.173600A>G | CA492785678 | HBA2 | c.429A>G (p.Ter143=) c.333A>G (p.Ter111=) n.565A>G | gnomAD v4 |
| 16 | g.173600A>T | CA125595 | HBA2 | c.429A>T (p.Ter143Tyr) c.333A>T (p.Ter111Tyr) n.565A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173600_173601delinsAG | CA2200880990 | HBA2 | c.429_*1delinsAG (n.[c.429_*1delinsAG;Ter143=]) c.333_*1delinsAG (n.[c.333_*1delinsAG;Ter111=]) n.565_566delinsAG | |
| 16 | g.173601del | CA7770189 | HBA2 | c.*1del (n.*1del) n.566del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173601G>C | CA7770190 | HBA2 | c.*1G>C (n.*1G>C) n.566G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173601G= | CA2200880991 | HBA2 | c.*1G= (n.*1G=) n.566G= | |
| 16 | g.173603T>A | CA7770191 | HBA2 | c.*3T>A (n.*3T>A) n.568T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173603T>G | CA2731577815 | HBA2 | c.*3T>G (n.*3T>G) n.568T>G | dbSNP |
| 16 | g.173603T= | CA2200880992 | HBA2 | c.*3T= (n.*3T=) n.568T= | |
| 16 | g.173604G>C | CA2731773134 | HBA2 | c.*4G>C (n.*4G>C) n.569G>C | dbSNP |
| 16 | g.173605del | CA2575852859 | HBA2 | c.*5del (n.*5del) n.570del | |
| 16 | g.173605G>C | CA2630738054 | HBA2 | c.*5G>C (n.*5G>C) n.570G>C | gnomAD v4 |
| 16 | g.173607G>T | CA2731773154 | HBA2 | c.*7G>T (n.*7G>T) n.572G>T | dbSNP |
| 16 | g.173608C>A | CA2630738065 | HBA2 | c.*8C>A (n.*8C>A) n.573C>A | gnomAD v4 |
| 16 | g.173608C= | CA2200880993 | HBA2 | c.*8C= (n.*8C=) n.573C= | |
| 16 | g.173608C>G | CA620304377 | HBA2 | c.*8C>G (n.*8C>G) n.573C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173608C>T | CA7770192 | HBA2 | c.*8C>T (n.*8C>T) n.573C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173609C>A | CA2630738066 | HBA2 | c.*9C>A (n.*9C>A) n.574C>A | gnomAD v4 |
| 16 | g.173609C>G | CA2805501789 | HBA2 | c.*9C>G (n.*9C>G) n.574C>G | |
| 16 | g.173611C= | CA2200880994 | HBA2 | c.*11C= (n.*11C=) n.576C= | |
| 16 | g.173611C>G | CA2200880995 | HBA2 | c.*11C>G (n.*11C>G) n.576C>G | dbSNP |
| 16 | g.173611C>T | CA973582670 | HBA2 | c.*11C>T (n.*11C>T) n.576C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173612G>A | CA620304378 | HBA2 | c.*12G>A (n.*12G>A) n.577G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173612G>C | CA620304379 | HBA2 | c.*12G>C (n.*12G>C) n.577G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173612G= | CA2200880996 | HBA2 | c.*12G= (n.*12G=) n.577G= | |
| 16 | g.173612G>T | CA973582673 | HBA2 | c.*12G>T (n.*12G>T) n.577G>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173613G>A | CA2575852860 | HBA2 | c.*13G>A (n.*13G>A) n.578G>A | |
| 16 | g.173613G= | CA2200880997 | HBA2 | c.*13G= (n.*13G=) n.578G= | |
| 16 | g.173613G>T | CA7770193 | HBA2 | c.*13G>T (n.*13G>T) n.578G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173614T>G | CA7770194 | HBA2 | c.*14T>G (n.*14T>G) n.579T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173614T= | CA2200880998 | HBA2 | c.*14T= (n.*14T=) n.579T= | |
| 16 | g.173615A= | CA2200880999 | HBA2 | c.*15A= (n.*15A=) n.580A= | |
| 16 | g.173615A>G | CA7770195 | HBA2 | c.*15A>G (n.*15A>G) n.580A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |