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 |
|---|---|---|---|---|---|
| 7 | g.107689101G>A | CA184789 | SLC26A4 | c.1050G>A (p.Leu350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689101G>C | CA457088419 | SLC26A4 | c.1050G>C (p.Leu350=) | |
| 7 | g.107689101G= | CA1732747248 | SLC26A4 | c.1050G= (p.Leu350=) | |
| 7 | g.107689101G>T | CA457088423 | SLC26A4 | c.1050G>T (p.Leu350=) | |
| 7 | g.107689102G>A | CA368838547 | SLC26A4 | c.1051G>A (p.Ala351Thr) | |
| 7 | g.107689102G>C | CA368838549 | SLC26A4 | c.1051G>C (p.Ala351Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689102G= | CA1732747251 | SLC26A4 | c.1051G= (p.Ala351=) | |
| 7 | g.107689102G>T | CA368838550 | SLC26A4 | c.1051G>T (p.Ala351Ser) | gnomAD v4 |
| 7 | g.107689103C>A | CA368838554 | SLC26A4 | c.1052C>A (p.Ala351Asp) | COSMIC |
| 7 | g.107689103C= | CA1732747255 | SLC26A4 | c.1052C= (p.Ala351=) | |
| 7 | g.107689103C>G | CA4432668 | SLC26A4 | c.1052C>G (p.Ala351Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689103C>T | CA368838555 | SLC26A4 | c.1052C>T (p.Ala351Val) | |
| 7 | g.107689104T>A | CA457088440 | SLC26A4 | c.1053T>A (p.Ala351=) | |
| 7 | g.107689104T>C | CA457088441 | SLC26A4 | c.1053T>C (p.Ala351=) | ClinVar |
| 7 | g.107689104T>G | CA457088445 | SLC26A4 | c.1053T>G (p.Ala351=) | |
| 7 | g.107689105del | CA2573052787 | SLC26A4 | c.1054del (p.Ala352HisfsTer16) | ClinVar dbSNP |
| 7 | g.107689105G>A | CA132652 | SLC26A4 | c.1054G>A (p.Ala352Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689105G>C | CA368838556 | SLC26A4 | c.1054G>C (p.Ala352Pro) | |
| 7 | g.107689105G= | CA1732747319 | SLC26A4 | c.1054G= (p.Ala352=) | |
| 7 | g.107689105G>T | CA368838557 | SLC26A4 | c.1054G>T (p.Ala352Ser) | |
| 7 | g.107689106C>A | CA368838559 | SLC26A4 | c.1055C>A (p.Ala352Glu) | |
| 7 | g.107689106C>G | CA368838560 | SLC26A4 | c.1055C>G (p.Ala352Gly) | gnomAD v4 |
| 7 | g.107689106C>T | CA368838562 | SLC26A4 | c.1055C>T (p.Ala352Val) | |
| 7 | g.107689107A= | CA1732747322 | SLC26A4 | c.1056A= (p.Ala352=) | |
| 7 | g.107689107A>C | CA457088462 | SLC26A4 | c.1056A>C (p.Ala352=) | |
| 7 | g.107689107A>G | CA457088465 | SLC26A4 | c.1056A>G (p.Ala352=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689107A>T | CA457088468 | SLC26A4 | c.1056A>T (p.Ala352=) | |
| 7 | g.107689108T>A | CA368838564 | SLC26A4 | c.1057T>A (p.Ser353Thr) | |
| 7 | g.107689108T>C | CA368838565 | SLC26A4 | c.1057T>C (p.Ser353Pro) | |
| 7 | g.107689108T>G | CA4432669 | SLC26A4 | c.1057T>G (p.Ser353Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689108T= | CA1732747327 | SLC26A4 | c.1057T= (p.Ser353=) | |
| 7 | g.107689109C>A | CA368838568 | SLC26A4 | c.1058C>A (p.Ser353Ter) | |
| 7 | g.107689109C>G | CA368838569 | SLC26A4 | c.1058C>G (p.Ser353Ter) | ClinVar COSMIC |
| 7 | g.107689109C>T | CA368838572 | SLC26A4 | c.1058C>T (p.Ser353Leu) | |
| 7 | g.107689110A= | CA1732747330 | SLC26A4 | c.1059A= (p.Ser353=) | |
| 7 | g.107689110A>C | CA457088486 | SLC26A4 | c.1059A>C (p.Ser353=) | |
| 7 | g.107689110A>G | CA457088489 | SLC26A4 | c.1059A>G (p.Ser353=) | |
| 7 | g.107689110A>T | CA457088492 | SLC26A4 | c.1059A>T (p.Ser353=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689111T>A | CA368838580 | SLC26A4 | c.1060T>A (p.Phe354Ile) | |
| 7 | g.107689111T>C | CA368838575 | SLC26A4 | c.1060T>C (p.Phe354Leu) | |
| 7 | g.107689111T>G | CA368838577 | SLC26A4 | c.1060T>G (p.Phe354Val) | |
| 7 | g.107689112T>A | CA368838582 | SLC26A4 | c.1061T>A (p.Phe354Tyr) | |
| 7 | g.107689112T>C | CA132656 | SLC26A4 | c.1061T>C (p.Phe354Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689112T>G | CA368838583 | SLC26A4 | c.1061T>G (p.Phe354Cys) | |
| 7 | g.107689112T= | CA1732747337 | SLC26A4 | c.1061T= (p.Phe354=) | |
| 7 | g.107689113T>A | CA368838585 | SLC26A4 | c.1062T>A (p.Phe354Leu) | |
| 7 | g.107689113T>C | CA457088514 | SLC26A4 | c.1062T>C (p.Phe354=) | |
| 7 | g.107689113T>G | CA368838588 | SLC26A4 | c.1062T>G (p.Phe354Leu) | |
| 7 | g.107689114T>A | CA368838589 | SLC26A4 | c.1063T>A (p.Ser355Thr) | |
| 7 | g.107689114T>C | CA4432670 | SLC26A4 | c.1063T>C (p.Ser355Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689114T>G | CA368838590 | SLC26A4 | c.1063T>G (p.Ser355Ala) | |
| 7 | g.107689114T= | CA1732747341 | SLC26A4 | c.1063T= (p.Ser355=) | |
| 7 | g.107689115C>A | CA368838591 | SLC26A4 | c.1064C>A (p.Ser355Tyr) | |
| 7 | g.107689115C= | CA1732747344 | SLC26A4 | c.1064C= (p.Ser355=) | |
| 7 | g.107689115C>G | CA368838592 | SLC26A4 | c.1064C>G (p.Ser355Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689115C>T | CA368838593 | SLC26A4 | c.1064C>T (p.Ser355Phe) | |
| 7 | g.107689116C>A | CA457088542 | SLC26A4 | c.1065C>A (p.Ser355=) | ClinVar dbSNP |
| 7 | g.107689116C>G | CA457088540 | SLC26A4 | c.1065C>G (p.Ser355=) | |
| 7 | g.107689116C>T | CA457088536 | SLC26A4 | c.1065C>T (p.Ser355=) | |
| 7 | g.107689117A= | CA1732747346 | SLC26A4 | c.1066A= (p.Ile356=) | |
| 7 | g.107689117A>C | CA368838597 | SLC26A4 | c.1066A>C (p.Ile356Leu) | dbSNP |
| 7 | g.107689117A>G | CA4432671 | SLC26A4 | c.1066A>G (p.Ile356Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689117A>T | CA368838595 | SLC26A4 | c.1066A>T (p.Ile356Phe) | |
| 7 | g.107689118T>A | CA368838599 | SLC26A4 | c.1067T>A (p.Ile356Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689118T>C | CA4432672 | SLC26A4 | c.1067T>C (p.Ile356Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689118T>G | CA4432673 | SLC26A4 | c.1067T>G (p.Ile356Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689118T= | CA1732747348 | SLC26A4 | c.1067T= (p.Ile356=) | |
| 7 | g.107689119C>A | CA457088565 | SLC26A4 | c.1068C>A (p.Ile356=) | |
| 7 | g.107689119C= | CA1732747354 | SLC26A4 | c.1068C= (p.Ile356=) | |
| 7 | g.107689119C>G | CA368838605 | SLC26A4 | c.1068C>G (p.Ile356Met) | |
| 7 | g.107689119C>T | CA10627913 | SLC26A4 | c.1068C>T (p.Ile356=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689120G>A | CA132654 | SLC26A4 | c.1069G>A (p.Ala357Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689120G>C | CA368838618 | SLC26A4 | c.1069G>C (p.Ala357Pro) | |
| 7 | g.107689120G= | CA1732747359 | SLC26A4 | c.1069G= (p.Ala357=) | |
| 7 | g.107689120G>T | CA368838610 | SLC26A4 | c.1069G>T (p.Ala357Ser) | gnomAD v4 |
| 7 | g.107689121C>A | CA368838620 | SLC26A4 | c.1070C>A (p.Ala357Asp) | |
| 7 | g.107689121C>G | CA368838623 | SLC26A4 | c.1070C>G (p.Ala357Gly) | gnomAD v4 |
| 7 | g.107689121C>T | CA368838625 | SLC26A4 | c.1070C>T (p.Ala357Val) | |
| 7 | g.107689122T>A | CA457088590 | SLC26A4 | c.1071T>A (p.Ala357=) | gnomAD v4 |
| 7 | g.107689122T>C | CA457088594 | SLC26A4 | c.1071T>C (p.Ala357=) | dbSNP |
| 7 | g.107689122T>G | CA457088599 | SLC26A4 | c.1071T>G (p.Ala357=) | |
| 7 | g.107689123G>A | CA368838626 | SLC26A4 | c.1072G>A (p.Val358Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689123G>C | CA368838628 | SLC26A4 | c.1072G>C (p.Val358Leu) | |
| 7 | g.107689123G= | CA1732747362 | SLC26A4 | c.1072G= (p.Val358=) | |
| 7 | g.107689123G>T | CA368838631 | SLC26A4 | c.1072G>T (p.Val358Leu) | |
| 7 | g.107689124T>A | CA368838633 | SLC26A4 | c.1073T>A (p.Val358Glu) | |
| 7 | g.107689124T>C | CA4432674 | SLC26A4 | c.1073T>C (p.Val358Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689124T>G | CA368838638 | SLC26A4 | c.1073T>G (p.Val358Gly) | |
| 7 | g.107689124T= | CA1732747369 | SLC26A4 | c.1073T= (p.Val358=) | |
| 7 | g.107689125G>A | CA457088627 | SLC26A4 | c.1074G>A (p.Val358=) | gnomAD v4 |
| 7 | g.107689125G>C | CA457088629 | SLC26A4 | c.1074G>C (p.Val358=) | |
| 7 | g.107689125G>T | CA457088630 | SLC26A4 | c.1074G>T (p.Val358=) | |
| 7 | g.107689126G>A | CA368838641 | SLC26A4 | c.1075G>A (p.Val359Met) | gnomAD v4 COSMIC |
| 7 | g.107689126G>C | CA368838642 | SLC26A4 | c.1075G>C (p.Val359Leu) | |
| 7 | g.107689126G>T | CA368838645 | SLC26A4 | c.1075G>T (p.Val359Leu) | |
| 7 | g.107689127T>A | CA4432675 | SLC26A4 | c.1076T>A (p.Val359Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689127T>C | CA368838653 | SLC26A4 | c.1076T>C (p.Val359Ala) | dbSNP |
| 7 | g.107689127T>G | CA368838650 | SLC26A4 | c.1076T>G (p.Val359Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689127T= | CA1732747370 | SLC26A4 | c.1076T= (p.Val359=) | |
| 7 | g.107689128G>A | CA457088650 | SLC26A4 | c.1077G>A (p.Val359=) | gnomAD v4 |
| 7 | g.107689128G>C | CA457088652 | SLC26A4 | c.1077G>C (p.Val359=) | |
| 7 | g.107689128G>T | CA457088654 | SLC26A4 | c.1077G>T (p.Val359=) | |
| 7 | g.107689129G>A | CA368838656 | SLC26A4 | c.1078G>A (p.Ala360Thr) | |
| 7 | g.107689129G>C | CA368838658 | SLC26A4 | c.1078G>C (p.Ala360Pro) | |
| 7 | g.107689129G>T | CA368838660 | SLC26A4 | c.1078G>T (p.Ala360Ser) | |
| 7 | g.107689130C>A | CA368838662 | SLC26A4 | c.1079C>A (p.Ala360Asp) | |
| 7 | g.107689130C= | CA1732747371 | SLC26A4 | c.1079C= (p.Ala360=) | |
| 7 | g.107689130C>G | CA368838665 | SLC26A4 | c.1079C>G (p.Ala360Gly) | |
| 7 | g.107689130C>T | CA273966 | SLC26A4 | c.1079C>T (p.Ala360Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689131T>A | CA457088676 | SLC26A4 | c.1080T>A (p.Ala360=) | |
| 7 | g.107689131T>C | CA457088679 | SLC26A4 | c.1080T>C (p.Ala360=) | |
| 7 | g.107689131T>G | CA457088681 | SLC26A4 | c.1080T>G (p.Ala360=) | |
| 7 | g.107689132del | CA2684466372 | SLC26A4 | c.1081del (p.Tyr361MetfsTer7) | gnomAD v4 |
| 7 | g.107689132T>A | CA368838667 | SLC26A4 | c.1081T>A (p.Tyr361Asn) | |
| 7 | g.107689132T>C | CA368838670 | SLC26A4 | c.1081T>C (p.Tyr361His) | |
| 7 | g.107689132T>G | CA368838673 | SLC26A4 | c.1081T>G (p.Tyr361Asp) | |
| 7 | g.107689133A>C | CA368838677 | SLC26A4 | c.1082A>C (p.Tyr361Ser) | |
| 7 | g.107689133A>G | CA368838680 | SLC26A4 | c.1082A>G (p.Tyr361Cys) | |
| 7 | g.107689133A>T | CA368838675 | SLC26A4 | c.1082A>T (p.Tyr361Phe) | |
| 7 | g.107689134T>A | CA368838682 | SLC26A4 | c.1083T>A (p.Tyr361Ter) | |
| 7 | g.107689134T>C | CA457088702 | SLC26A4 | c.1083T>C (p.Tyr361=) | ClinVar dbSNP |
| 7 | g.107689134T>G | CA368838685 | SLC26A4 | c.1083T>G (p.Tyr361Ter) | |
| 7 | g.107689135G>A | CA368838688 | SLC26A4 | c.1084G>A (p.Ala362Thr) | dbSNP gnomAD v2 |
| 7 | g.107689135G>C | CA368838690 | SLC26A4 | c.1084G>C (p.Ala362Pro) | |
| 7 | g.107689135G= | CA1732747372 | SLC26A4 | c.1084G= (p.Ala362=) | |
| 7 | g.107689135G>T | CA368838693 | SLC26A4 | c.1084G>T (p.Ala362Ser) | |
| 7 | g.107689136C>A | CA16042657 | SLC26A4 | c.1085C>A (p.Ala362Asp) | ClinVar dbSNP |
| 7 | g.107689136C= | CA1732747373 | SLC26A4 | c.1085C= (p.Ala362=) | |
| 7 | g.107689136C>G | CA368838694 | SLC26A4 | c.1085C>G (p.Ala362Gly) | |
| 7 | g.107689136C>T | CA368838696 | SLC26A4 | c.1085C>T (p.Ala362Val) | |
| 7 | g.107689137T>A | CA457088724 | SLC26A4 | c.1086T>A (p.Ala362=) | |
| 7 | g.107689137T>C | CA457088726 | SLC26A4 | c.1086T>C (p.Ala362=) | |
| 7 | g.107689137T>G | CA457088730 | SLC26A4 | c.1086T>G (p.Ala362=) | |
| 7 | g.107689137dup | CA2695203107 | SLC26A4 | c.1086dup (p.Ile363TyrfsTer14) | |
| 7 | g.107689138A= | CA1732747374 | SLC26A4 | c.1087A= (p.Ile363=) | |
| 7 | g.107689138A>C | CA368838700 | SLC26A4 | c.1087A>C (p.Ile363Leu) | ClinVar dbSNP |
| 7 | g.107689138A>G | CA4432676 | SLC26A4 | c.1087A>G (p.Ile363Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689138A>T | CA368838703 | SLC26A4 | c.1087A>T (p.Ile363Phe) | |
| 7 | g.107689139T>A | CA368838707 | SLC26A4 | c.1088T>A (p.Ile363Asn) | |
| 7 | g.107689139T>C | CA368838709 | SLC26A4 | c.1088T>C (p.Ile363Thr) | |
| 7 | g.107689139T>G | CA368838705 | SLC26A4 | c.1088T>G (p.Ile363Ser) | |
| 7 | g.107689140T>A | CA457088756 | SLC26A4 | c.1089T>A (p.Ile363=) | |
| 7 | g.107689140T>C | CA457088753 | SLC26A4 | c.1089T>C (p.Ile363=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689140T>G | CA368838711 | SLC26A4 | c.1089T>G (p.Ile363Met) | |
| 7 | g.107689140T= | CA1732747375 | SLC26A4 | c.1089T= (p.Ile363=) | |
| 7 | g.107689141G>A | CA368838712 | SLC26A4 | c.1090G>A (p.Ala364Thr) | |
| 7 | g.107689141G>C | CA368838715 | SLC26A4 | c.1090G>C (p.Ala364Pro) | |
| 7 | g.107689141G>T | CA368838718 | SLC26A4 | c.1090G>T (p.Ala364Ser) | gnomAD v4 |
| 7 | g.107689142C>A | CA368838721 | SLC26A4 | c.1091C>A (p.Ala364Glu) | |
| 7 | g.107689142C= | CA1732747376 | SLC26A4 | c.1091C= (p.Ala364=) | |
| 7 | g.107689142C>G | CA368838720 | SLC26A4 | c.1091C>G (p.Ala364Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689142C>T | CA368838719 | SLC26A4 | c.1091C>T (p.Ala364Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.107689143A>C | CA457088774 | SLC26A4 | c.1092A>C (p.Ala364=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107689143A>G | CA457088776 | SLC26A4 | c.1092A>G (p.Ala364=) | |
| 7 | g.107689143A>T | CA457088780 | SLC26A4 | c.1092A>T (p.Ala364=) | |
| 7 | g.107689144G>A | CA368838726 | SLC26A4 | c.1093G>A (p.Val365Met) | |
| 7 | g.107689144G>C | CA368838727 | SLC26A4 | c.1093G>C (p.Val365Leu) | |
| 7 | g.107689144G>T | CA368838730 | SLC26A4 | c.1093G>T (p.Val365Leu) | |
| 7 | g.107689145T>A | CA368838731 | SLC26A4 | c.1094T>A (p.Val365Glu) | |
| 7 | g.107689145T>C | CA368838733 | SLC26A4 | c.1094T>C (p.Val365Ala) | dbSNP gnomAD v4 |
| 7 | g.107689145T>G | CA368838736 | SLC26A4 | c.1094T>G (p.Val365Gly) | |
| 7 | g.107689145T= | CA1732747377 | SLC26A4 | c.1094T= (p.Val365=) | |
| 7 | g.107689146G>A | CA457088800 | SLC26A4 | c.1095G>A (p.Val365=) | |
| 7 | g.107689146G>C | CA457088806 | SLC26A4 | c.1095G>C (p.Val365=) | |
| 7 | g.107689146G>T | CA457088802 | SLC26A4 | c.1095G>T (p.Val365=) | |
| 7 | g.107689147T>A | CA368838742 | SLC26A4 | c.1096T>A (p.Ser366Thr) | |
| 7 | g.107689147T>C | CA368838740 | SLC26A4 | c.1096T>C (p.Ser366Pro) | |
| 7 | g.107689147T>G | CA368838738 | SLC26A4 | c.1096T>G (p.Ser366Ala) | |
| 7 | g.107689148C>A | CA368838746 | SLC26A4 | c.1097C>A (p.Ser366Ter) | COSMIC |
| 7 | g.107689148C= | CA1732747378 | SLC26A4 | c.1097C= (p.Ser366=) | |
| 7 | g.107689148C>G | CA368838751 | SLC26A4 | c.1097C>G (p.Ser366Ter) | |
| 7 | g.107689148C>T | CA368838749 | SLC26A4 | c.1097C>T (p.Ser366Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689149A>C | CA457088824 | SLC26A4 | c.1098A>C (p.Ser366=) | |
| 7 | g.107689149A>G | CA457088830 | SLC26A4 | c.1098A>G (p.Ser366=) | gnomAD v4 |
| 7 | g.107689149A>T | CA457088827 | SLC26A4 | c.1098A>T (p.Ser366=) | |
| 7 | g.107689150G>A | CA368838753 | SLC26A4 | c.1099G>A (p.Val367Ile) | |
| 7 | g.107689150G>C | CA368838756 | SLC26A4 | c.1099G>C (p.Val367Leu) | |
| 7 | g.107689150G= | CA1732747379 | SLC26A4 | c.1099G= (p.Val367=) | |
| 7 | g.107689150G>T | CA164210220 | SLC26A4 | c.1099G>T (p.Val367Leu) | dbSNP gnomAD v4 |
| 7 | g.107689150_107689151delinsGT | CA1732747380 | SLC26A4 | c.1099_1100delinsGT (p.Val367=) | |
| 7 | g.107689151del | CA1732747382 | SLC26A4 | c.1100del (p.Val367GlufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689151T>A | CA368838758 | SLC26A4 | c.1100T>A (p.Val367Glu) | |
| 7 | g.107689151T>C | CA4432677 | SLC26A4 | c.1100T>C (p.Val367Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689151T>G | CA368838761 | SLC26A4 | c.1100T>G (p.Val367Gly) | |
| 7 | g.107689151T= | CA1732747381 | SLC26A4 | c.1100T= (p.Val367=) | |
| 7 | g.107689152A= | CA1732747383 | SLC26A4 | c.1101A= (p.Val367=) | |
| 7 | g.107689152A>C | CA457088851 | SLC26A4 | c.1101A>C (p.Val367=) | |
| 7 | g.107689152A>G | CA4432678 | SLC26A4 | c.1101A>G (p.Val367=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689152A>T | CA457088857 | SLC26A4 | c.1101A>T (p.Val367=) | |
| 7 | g.107689153G>A | CA368838766 | SLC26A4 | c.1102G>A (p.Gly368Arg) | gnomAD v4 |
| 7 | g.107689153G>C | CA368838767 | SLC26A4 | c.1102G>C (p.Gly368Arg) | |
| 7 | g.107689153G>T | CA368838768 | SLC26A4 | c.1102G>T (p.Gly368Ter) | |
| 7 | g.107689154G>A | CA368838771 | SLC26A4 | c.1103G>A (p.Gly368Glu) | COSMIC |
| 7 | g.107689154G>C | CA368838770 | SLC26A4 | c.1103G>C (p.Gly368Ala) | |
| 7 | g.107689154G>T | CA368838769 | SLC26A4 | c.1103G>T (p.Gly368Val) | |
| 7 | g.107689155A>C | CA457088873 | SLC26A4 | c.1104A>C (p.Gly368=) | |
| 7 | g.107689155A>G | CA457088877 | SLC26A4 | c.1104A>G (p.Gly368=) | |
| 7 | g.107689155A>T | CA457088880 | SLC26A4 | c.1104A>T (p.Gly368=) | |
| 7 | g.107689156A= | CA1732747384 | SLC26A4 | c.1105A= (p.Lys369=) | |
| 7 | g.107689156A>C | CA368838772 | SLC26A4 | c.1105A>C (p.Lys369Gln) | |
| 7 | g.107689156A>G | CA253305 | SLC26A4 | c.1105A>G (p.Lys369Glu) | ClinVar dbSNP |
| 7 | g.107689156A>T | CA368838773 | SLC26A4 | c.1105A>T (p.Lys369Ter) | ClinVar dbSNP |
| 7 | g.107689157A>C | CA368838777 | SLC26A4 | c.1106A>C (p.Lys369Thr) | |
| 7 | g.107689157A>G | CA368838778 | SLC26A4 | c.1106A>G (p.Lys369Arg) | |
| 7 | g.107689157A>T | CA368838781 | SLC26A4 | c.1106A>T (p.Lys369Ile) | |
| 7 | g.107689158A>C | CA368838786 | SLC26A4 | c.1107A>C (p.Lys369Asn) | gnomAD v4 |
| 7 | g.107689158A>G | CA457088905 | SLC26A4 | c.1107A>G (p.Lys369=) | gnomAD v4 |
| 7 | g.107689158A>T | CA368838788 | SLC26A4 | c.1107A>T (p.Lys369Asn) | gnomAD v4 |
| 7 | g.107689159G>A | CA368838789 | SLC26A4 | c.1108G>A (p.Val370Ile) | |
| 7 | g.107689159G>C | CA4432679 | SLC26A4 | c.1108G>C (p.Val370Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689159G= | CA1732747385 | SLC26A4 | c.1108G= (p.Val370=) | |
| 7 | g.107689159G>T | CA4432680 | SLC26A4 | c.1108G>T (p.Val370Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689160T>A | CA4432681 | SLC26A4 | c.1109T>A (p.Val370Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689160T>C | CA368838798 | SLC26A4 | c.1109T>C (p.Val370Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689160T>G | CA368838797 | SLC26A4 | c.1109T>G (p.Val370Gly) | |
| 7 | g.107689160T= | CA1732747386 | SLC26A4 | c.1109T= (p.Val370=) | |
| 7 | g.107689161A= | CA1732747387 | SLC26A4 | c.1110A= (p.Val370=) | |
| 7 | g.107689161A>C | CA457088934 | SLC26A4 | c.1110A>C (p.Val370=) | |
| 7 | g.107689161A>G | CA10625017 | SLC26A4 | c.1110A>G (p.Val370=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689161A>T | CA457088929 | SLC26A4 | c.1110A>T (p.Val370=) | |
| 7 | g.107689162T>A | CA368838800 | SLC26A4 | c.1111T>A (p.Tyr371Asn) | |
| 7 | g.107689162T>C | CA368838801 | SLC26A4 | c.1111T>C (p.Tyr371His) | |
| 7 | g.107689162T>G | CA368838804 | SLC26A4 | c.1111T>G (p.Tyr371Asp) | |
| 7 | g.107689163A>C | CA368838806 | SLC26A4 | c.1112A>C (p.Tyr371Ser) | |
| 7 | g.107689163A>G | CA368838808 | SLC26A4 | c.1112A>G (p.Tyr371Cys) | gnomAD v4 |
| 7 | g.107689163A>T | CA368838810 | SLC26A4 | c.1112A>T (p.Tyr371Phe) | |
| 7 | g.107689164T>A | CA368838815 | SLC26A4 | c.1113T>A (p.Tyr371Ter) | |
| 7 | g.107689164T>C | CA164210284 | SLC26A4 | c.1113T>C (p.Tyr371=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689164T>G | CA368838817 | SLC26A4 | c.1113T>G (p.Tyr371Ter) | |
| 7 | g.107689164T= | CA1732747388 | SLC26A4 | c.1113T= (p.Tyr371=) | |
| 7 | g.107689165G>A | CA368838818 | SLC26A4 | c.1114G>A (p.Ala372Thr) | dbSNP |
| 7 | g.107689165G>C | CA368838820 | SLC26A4 | c.1114G>C (p.Ala372Pro) | |
| 7 | g.107689165G= | CA1732747389 | SLC26A4 | c.1114G= (p.Ala372=) | |
| 7 | g.107689165G>T | CA368838823 | SLC26A4 | c.1114G>T (p.Ala372Ser) | |
| 7 | g.107689166C>A | CA368838826 | SLC26A4 | c.1115C>A (p.Ala372Asp) | gnomAD v4 |
| 7 | g.107689166C= | CA1732747390 | SLC26A4 | c.1115C= (p.Ala372=) | |
| 7 | g.107689166C>G | CA368838829 | SLC26A4 | c.1115C>G (p.Ala372Gly) | |
| 7 | g.107689166C>T | CA253306 | SLC26A4 | c.1115C>T (p.Ala372Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107689167C>A | CA457088966 | SLC26A4 | c.1116C>A (p.Ala372=) | |
| 7 | g.107689167C>G | CA457088971 | SLC26A4 | c.1116C>G (p.Ala372=) | |
| 7 | g.107689167C>T | CA457088968 | SLC26A4 | c.1116C>T (p.Ala372=) | |
| 7 | g.107689168_107689169del | CA2578988664 | SLC26A4 | c.1117_1118del (p.Thr373GlnfsTer3) | |
| 7 | g.107689168A= | CA1732747391 | SLC26A4 | c.1117A= (p.Thr373=) | |
| 7 | g.107689168A>C | CA368838832 | SLC26A4 | c.1117A>C (p.Thr373Pro) | |
| 7 | g.107689168A>G | CA4432682 | SLC26A4 | c.1117A>G (p.Thr373Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689168A>T | CA368838834 | SLC26A4 | c.1117A>T (p.Thr373Ser) | |
| 7 | g.107689169C>A | CA368838836 | SLC26A4 | c.1118C>A (p.Thr373Asn) | |
| 7 | g.107689169C= | CA1732747392 | SLC26A4 | c.1118C= (p.Thr373=) | |
| 7 | g.107689169C>G | CA164210327 | SLC26A4 | c.1118C>G (p.Thr373Ser) | dbSNP gnomAD v4 |
| 7 | g.107689169C>T | CA368838839 | SLC26A4 | c.1118C>T (p.Thr373Ile) | dbSNP |
| 7 | g.107689170C>A | CA457088989 | SLC26A4 | c.1119C>A (p.Thr373=) | gnomAD v4 |
| 7 | g.107689170C= | CA1732747393 | SLC26A4 | c.1119C= (p.Thr373=) | |
| 7 | g.107689170C>G | CA457088991 | SLC26A4 | c.1119C>G (p.Thr373=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107689170C>T | CA457088993 | SLC26A4 | c.1119C>T (p.Thr373=) | |
| 7 | g.107689171A>C | CA368838842 | SLC26A4 | c.1120A>C (p.Lys374Gln) | |
| 7 | g.107689171A>G | CA368838847 | SLC26A4 | c.1120A>G (p.Lys374Glu) | |
| 7 | g.107689171A>T | CA368838844 | SLC26A4 | c.1120A>T (p.Lys374Ter) | |
| 7 | g.107689172A= | CA1732747394 | SLC26A4 | c.1121A= (p.Lys374=) | |
| 7 | g.107689172A>C | CA368838848 | SLC26A4 | c.1121A>C (p.Lys374Thr) | |
| 7 | g.107689172A>G | CA4432683 | SLC26A4 | c.1121A>G (p.Lys374Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689172A>T | CA368838852 | SLC26A4 | c.1121A>T (p.Lys374Met) | |
| 7 | g.107689173G>A | CA457089012 | SLC26A4 | c.1122G>A (p.Lys374=) | gnomAD v4 |
| 7 | g.107689173G>C | CA368838853 | SLC26A4 | c.1122G>C (p.Lys374Asn) | gnomAD v4 |
| 7 | g.107689173G>T | CA368838854 | SLC26A4 | c.1122G>T (p.Lys374Asn) | |
| 7 | g.107689174T>A | CA368838856 | SLC26A4 | c.1123T>A (p.Tyr375Asn) | COSMIC |
| 7 | g.107689174T>C | CA4432684 | SLC26A4 | c.1123T>C (p.Tyr375His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689174T>G | CA368838855 | SLC26A4 | c.1123T>G (p.Tyr375Asp) | |
| 7 | g.107689174T= | CA1732747395 | SLC26A4 | c.1123T= (p.Tyr375=) | |
| 7 | g.107689175A= | CA1732747396 | SLC26A4 | c.1124A= (p.Tyr375=) | |
| 7 | g.107689175A>C | CA368838858 | SLC26A4 | c.1124A>C (p.Tyr375Ser) | |
| 7 | g.107689175A>G | CA4432685 | SLC26A4 | c.1124A>G (p.Tyr375Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689175A>T | CA368838861 | SLC26A4 | c.1124A>T (p.Tyr375Phe) | |
| 7 | g.107689176T>A | CA368838865 | SLC26A4 | c.1125T>A (p.Tyr375Ter) | |
| 7 | g.107689176T>C | CA457089028 | SLC26A4 | c.1125T>C (p.Tyr375=) | gnomAD v4 |
| 7 | g.107689176T>G | CA368838867 | SLC26A4 | c.1125T>G (p.Tyr375Ter) | gnomAD v4 |
| 7 | g.107689177G>A | CA368838868 | SLC26A4 | c.1126G>A (p.Asp376Asn) | COSMIC |
| 7 | g.107689177G>C | CA368838869 | SLC26A4 | c.1126G>C (p.Asp376His) | |
| 7 | g.107689177G= | CA1732747397 | SLC26A4 | c.1126G= (p.Asp376=) | |
| 7 | g.107689177G>T | CA4432686 | SLC26A4 | c.1126G>T (p.Asp376Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689178A>C | CA368838870 | SLC26A4 | c.1127A>C (p.Asp376Ala) | |
| 7 | g.107689178A>G | CA368838873 | SLC26A4 | c.1127A>G (p.Asp376Gly) | |
| 7 | g.107689178A>T | CA368838874 | SLC26A4 | c.1127A>T (p.Asp376Val) | |
| 7 | g.107689179T>A | CA368838876 | SLC26A4 | c.1128T>A (p.Asp376Glu) | |
| 7 | g.107689179T>C | CA457089044 | SLC26A4 | c.1128T>C (p.Asp376=) | |
| 7 | g.107689179T>G | CA368838878 | SLC26A4 | c.1128T>G (p.Asp376Glu) | dbSNP gnomAD v4 |
| 7 | g.107689179T= | CA1732747398 | SLC26A4 | c.1128T= (p.Asp376=) | |
| 7 | g.107689180T>A | CA368838881 | SLC26A4 | c.1129T>A (p.Tyr377Asn) | |
| 7 | g.107689180T>C | CA368838880 | SLC26A4 | c.1129T>C (p.Tyr377His) | |
| 7 | g.107689180T>G | CA368838879 | SLC26A4 | c.1129T>G (p.Tyr377Asp) | |
| 7 | g.107689181A>C | CA368838882 | SLC26A4 | c.1130A>C (p.Tyr377Ser) | |
| 7 | g.107689181A>G | CA368838886 | SLC26A4 | c.1130A>G (p.Tyr377Cys) | |
| 7 | g.107689181A>T | CA368838888 | SLC26A4 | c.1130A>T (p.Tyr377Phe) | |
| 7 | g.107689182C>A | CA368838890 | SLC26A4 | c.1131C>A (p.Tyr377Ter) | ClinVar dbSNP |
| 7 | g.107689182C>G | CA368838892 | SLC26A4 | c.1131C>G (p.Tyr377Ter) | |
| 7 | g.107689182C>T | CA457089059 | SLC26A4 | c.1131C>T (p.Tyr377=) | |
| 7 | g.107689184_107689186del | CA2695203109 | SLC26A4 | c.1133_1135del (p.Thr378del) | |
| 7 | g.107689182_107689195delinsCACCATCGATGGGA | CA1732747399 | SLC26A4 | c.1131_1144delinsCACCATCGATGGGA (p.Tyr377=) | |
| 7 | g.107689183A= | CA1732747400 | SLC26A4 | c.1132A= (p.Thr378=) | |
| 7 | g.107689183A>C | CA368838895 | SLC26A4 | c.1132A>C (p.Thr378Pro) | COSMIC |
| 7 | g.107689183A>G | CA4432688 | SLC26A4 | c.1132A>G (p.Thr378Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689183A>T | CA368838898 | SLC26A4 | c.1132A>T (p.Thr378Ser) | |
| 7 | g.107689187_107689199del | CA4432687 | SLC26A4 | c.1136_1148del (p.Ile379ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689184C>A | CA368838900 | SLC26A4 | c.1133C>A (p.Thr378Asn) | |
| 7 | g.107689184C= | CA1732747401 | SLC26A4 | c.1133C= (p.Thr378=) | |
| 7 | g.107689184C>G | CA368838902 | SLC26A4 | c.1133C>G (p.Thr378Ser) | |
| 7 | g.107689184C>T | CA4432689 | SLC26A4 | c.1133C>T (p.Thr378Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107689185C>A | CA457089077 | SLC26A4 | c.1134C>A (p.Thr378=) | |
| 7 | g.107689185C>G | CA457089078 | SLC26A4 | c.1134C>G (p.Thr378=) | |
| 7 | g.107689185C>T | CA457089081 | SLC26A4 | c.1134C>T (p.Thr378=) | ClinVar |
| 7 | g.107689186A= | CA1732747402 | SLC26A4 | c.1135A= (p.Ile379=) | |
| 7 | g.107689186A>C | CA368838904 | SLC26A4 | c.1135A>C (p.Ile379Leu) | |
| 7 | g.107689186A>G | CA368838905 | SLC26A4 | c.1135A>G (p.Ile379Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689186A>T | CA368838907 | SLC26A4 | c.1135A>T (p.Ile379Phe) | gnomAD v4 |
| 7 | g.107689187T>A | CA368838911 | SLC26A4 | c.1136T>A (p.Ile379Asn) | |
| 7 | g.107689187T>C | CA368838913 | SLC26A4 | c.1136T>C (p.Ile379Thr) | |
| 7 | g.107689187T>G | CA368838909 | SLC26A4 | c.1136T>G (p.Ile379Ser) | |
| 7 | g.107689188C>A | CA457089100 | SLC26A4 | c.1137C>A (p.Ile379=) | gnomAD v4 |
| 7 | g.107689188C= | CA1732747403 | SLC26A4 | c.1137C= (p.Ile379=) | |
| 7 | g.107689188C>G | CA164210339 | SLC26A4 | c.1137C>G (p.Ile379Met) | dbSNP |
| 7 | g.107689188C>T | CA4432690 | SLC26A4 | c.1137C>T (p.Ile379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689189G>A | CA4432691 | SLC26A4 | c.1138G>A (p.Asp380Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689189G>C | CA368838915 | SLC26A4 | c.1138G>C (p.Asp380His) | |
| 7 | g.107689189G= | CA1732747404 | SLC26A4 | c.1138G= (p.Asp380=) | |
| 7 | g.107689189G>T | CA368838917 | SLC26A4 | c.1138G>T (p.Asp380Tyr) | gnomAD v4 |
| 7 | g.107689190A>C | CA368838919 | SLC26A4 | c.1139A>C (p.Asp380Ala) | |
| 7 | g.107689190A>G | CA368838922 | SLC26A4 | c.1139A>G (p.Asp380Gly) | |
| 7 | g.107689190A>T | CA368838923 | SLC26A4 | c.1139A>T (p.Asp380Val) | |
| 7 | g.107689191T>A | CA368838925 | SLC26A4 | c.1140T>A (p.Asp380Glu) | |
| 7 | g.107689191T>C | CA457089116 | SLC26A4 | c.1140T>C (p.Asp380=) | COSMIC |
| 7 | g.107689191T>G | CA368838927 | SLC26A4 | c.1140T>G (p.Asp380Glu) | |
| 7 | g.107689192G>A | CA368838929 | SLC26A4 | c.1141G>A (p.Gly381Arg) | |
| 7 | g.107689192G>C | CA368838930 | SLC26A4 | c.1141G>C (p.Gly381Arg) | |
| 7 | g.107689192G>T | CA368838932 | SLC26A4 | c.1141G>T (p.Gly381Trp) | |
| 7 | g.107689193G>A | CA368838938 | SLC26A4 | c.1142G>A (p.Gly381Glu) | |
| 7 | g.107689193G>C | CA368838934 | SLC26A4 | c.1142G>C (p.Gly381Ala) | |
| 7 | g.107689193G>T | CA368838935 | SLC26A4 | c.1142G>T (p.Gly381Val) | |
| 7 | g.107689194G>A | CA4432692 | SLC26A4 | c.1143G>A (p.Gly381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689194G>C | CA457089131 | SLC26A4 | c.1143G>C (p.Gly381=) | |
| 7 | g.107689194G= | CA1732747405 | SLC26A4 | c.1143G= (p.Gly381=) | |
| 7 | g.107689194G>T | CA457089129 | SLC26A4 | c.1143G>T (p.Gly381=) | |
| 7 | g.107689195A>C | CA368838944 | SLC26A4 | c.1144A>C (p.Asn382His) | |
| 7 | g.107689195A>G | CA368838947 | SLC26A4 | c.1144A>G (p.Asn382Asp) | |
| 7 | g.107689195A>T | CA368838948 | SLC26A4 | c.1144A>T (p.Asn382Tyr) | |
| 7 | g.107689196A>C | CA368838949 | SLC26A4 | c.1145A>C (p.Asn382Thr) | |
| 7 | g.107689196A>G | CA368838952 | SLC26A4 | c.1145A>G (p.Asn382Ser) | |
| 7 | g.107689196A>T | CA368838953 | SLC26A4 | c.1145A>T (p.Asn382Ile) | |
| 7 | g.107689196_107689197del | CA913111809 | SLC26A4 | c.1145_1146del (p.Asn382ThrfsTer?) | |
| 7 | g.107689196_107689197delinsAC | CA1732747406 | SLC26A4 | c.1145_1146delinsAC (p.Asn382=) | |
| 7 | g.107689197C>A | CA368838955 | SLC26A4 | c.1146C>A (p.Asn382Lys) | |
| 7 | g.107689197C= | CA1732747407 | SLC26A4 | c.1146C= (p.Asn382=) | |
| 7 | g.107689197C>G | CA4432693 | SLC26A4 | c.1146C>G (p.Asn382Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689197C>T | CA457089150 | SLC26A4 | c.1146C>T (p.Asn382=) | |
| 7 | g.107689198del | CA658821804 | SLC26A4 | c.1147del (p.Gln383ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689198C>A | CA368838957 | SLC26A4 | c.1147C>A (p.Gln383Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689198C= | CA1732747408 | SLC26A4 | c.1147C= (p.Gln383=) | |
| 7 | g.107689198C>G | CA368838959 | SLC26A4 | c.1147C>G (p.Gln383Glu) | |
| 7 | g.107689198C>T | CA368838961 | SLC26A4 | c.1147C>T (p.Gln383Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689199A>C | CA368838963 | SLC26A4 | c.1148A>C (p.Gln383Pro) | |
| 7 | g.107689199A>G | CA368838966 | SLC26A4 | c.1148A>G (p.Gln383Arg) | |
| 7 | g.107689199A>T | CA368838964 | SLC26A4 | c.1148A>T (p.Gln383Leu) | |
| 7 | g.107689199_107689200delinsAG | CA1732747409 | SLC26A4 | c.1148_1149delinsAG (p.Gln383=) | |
| 7 | g.107689200G>A | CA457089169 | SLC26A4 | c.1149G>A (p.Gln383=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.107689200G>C | CA4432694 | SLC26A4 | c.1149G>C (p.Gln383His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689200G= | CA1732747410 | SLC26A4 | c.1149G= (p.Gln383=) | |
| 7 | g.107689200G>T | CA368838970 | SLC26A4 | c.1149G>T (p.Gln383His) | dbSNP |
| 7 | g.107689201del | CA16609564 | SLC26A4 | c.1149+1del | ClinVar dbSNP |
| 7 | g.107689201G>A | CA368838972 | SLC26A4 | c.1149+1G>A (n.1149+1G>A) | ClinVar COSMIC |
| 7 | g.107689201G>C | CA368838973 | SLC26A4 | c.1149+1G>C (n.1149+1G>C) | |
| 7 | g.107689201G>T | CA368838974 | SLC26A4 | c.1149+1G>T (n.1149+1G>T) |