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 |
|---|---|---|---|---|---|
| 5 | g.55227004_55227062del | CA2673854949 | MCIDAS | c.88_120+26del n.58-120_58-62del | gnomAD v4 |
| 5 | g.55227016C= | CA1547390856 | MCIDAS | c.120+3G= (n.120+3G=) n.58-85G= | |
| 5 | g.55227016C>T | CA3266605 | MCIDAS | c.120+3G>A (n.120+3G>A) n.58-85G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227017A= | CA1547390859 | MCIDAS | c.120+2T= (n.120+2T=) n.58-86T= | |
| 5 | g.55227017A>C | CA359734455 | MCIDAS | c.120+2T>G (n.120+2T>G) n.58-86T>G | dbSNP |
| 5 | g.55227017A>G | CA359734456 | MCIDAS | c.120+2T>C (n.120+2T>C) n.58-86T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227017A>T | CA359734457 | MCIDAS | c.120+2T>A (n.120+2T>A) n.58-86T>A | |
| 5 | g.55227017dup | CA118983545 | MCIDAS | c.120+2dup (n.120+2dup) n.58-86dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.55227018C>A | CA359734459 | MCIDAS | c.120+1G>T (n.120+1G>T) n.58-87G>T | |
| 5 | g.55227018C= | CA1547390862 | MCIDAS | c.120+1G= (n.120+1G=) n.58-87G= | |
| 5 | g.55227018C>G | CA359734461 | MCIDAS | c.120+1G>C (n.120+1G>C) n.58-87G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227018C>T | CA359734463 | MCIDAS | c.120+1G>A (n.120+1G>A) n.58-87G>A | |
| 5 | g.55227019C>A | CA359734464 | MCIDAS | c.120G>T (p.Lys40Asn) n.58-88G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227019C= | CA1547390864 | MCIDAS | c.120G= (p.Lys40=) n.58-88G= | |
| 5 | g.55227019C>G | CA359734465 | MCIDAS | c.120G>C (p.Lys40Asn) n.58-88G>C | |
| 5 | g.55227019C>T | CA444186444 | MCIDAS | c.120G>A (p.Lys40=) n.58-88G>A | gnomAD v4 |
| 5 | g.55227020T>A | CA359734467 | MCIDAS | c.119A>T (p.Lys40Met) n.58-89A>T | gnomAD v4 |
| 5 | g.55227020T>C | CA359734468 | MCIDAS | c.119A>G (p.Lys40Arg) n.58-89A>G | |
| 5 | g.55227020T>G | CA359734470 | MCIDAS | c.119A>C (p.Lys40Thr) n.58-89A>C | |
| 5 | g.55227021T>A | CA359734472 | MCIDAS | c.118A>T (p.Lys40Ter) n.58-90A>T | |
| 5 | g.55227021T>C | CA359734474 | MCIDAS | c.118A>G (p.Lys40Glu) n.58-90A>G | |
| 5 | g.55227021T>G | CA359734475 | MCIDAS | c.118A>C (p.Lys40Gln) n.58-90A>C | |
| 5 | g.55227021_55227022delinsTC | CA1547390866 | MCIDAS | c.117_118delinsGA (p.Arg39=) n.58-91_58-90delinsGA | |
| 5 | g.55227022C>A | CA359734476 | MCIDAS | c.117G>T (p.Arg39Ser) n.58-91G>T | |
| 5 | g.55227022C>G | CA359734478 | MCIDAS | c.117G>C (p.Arg39Ser) n.58-91G>C | |
| 5 | g.55227022C>T | CA444186445 | MCIDAS | c.117G>A (p.Arg39=) n.58-91G>A | |
| 5 | g.55227023del | CA1547390867 | MCIDAS | c.117del (p.Lys40SerfsTer?) n.58-91del | dbSNP |
| 5 | g.55227023C>A | CA359734480 | MCIDAS | c.116G>T (p.Arg39Met) n.58-92G>T | gnomAD v4 |
| 5 | g.55227023C= | CA1547390869 | MCIDAS | c.116G= (p.Arg39=) n.58-92G= | |
| 5 | g.55227023C>G | CA359734482 | MCIDAS | c.116G>C (p.Arg39Thr) n.58-92G>C | dbSNP gnomAD v4 |
| 5 | g.55227023C>T | CA359734483 | MCIDAS | c.116G>A (p.Arg39Lys) n.58-92G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227024T>A | CA359734484 | MCIDAS | c.115A>T (p.Arg39Trp) n.58-93A>T | |
| 5 | g.55227024T>C | CA359734486 | MCIDAS | c.115A>G (p.Arg39Gly) n.58-93A>G | dbSNP gnomAD v4 |
| 5 | g.55227024T>G | CA444186446 | MCIDAS | c.115A>C (p.Arg39=) n.58-93A>C | |
| 5 | g.55227024T= | CA1547390871 | MCIDAS | c.115A= (p.Arg39=) n.58-93A= | |
| 5 | g.55227025C>A | CA359734488 | MCIDAS | c.114G>T (p.Glu38Asp) n.58-94G>T | |
| 5 | g.55227025C= | CA1547390873 | MCIDAS | c.114G= (p.Glu38=) n.58-94G= | |
| 5 | g.55227025C>G | CA359734489 | MCIDAS | c.114G>C (p.Glu38Asp) n.58-94G>C | gnomAD v4 |
| 5 | g.55227025C>T | CA444186447 | MCIDAS | c.114G>A (p.Glu38=) n.58-94G>A | dbSNP gnomAD v4 |
| 5 | g.55227026T>A | CA359734490 | MCIDAS | c.113A>T (p.Glu38Val) n.58-95A>T | |
| 5 | g.55227026T>C | CA3266606 | MCIDAS | c.113A>G (p.Glu38Gly) n.58-95A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227026T>G | CA359734492 | MCIDAS | c.113A>C (p.Glu38Ala) n.58-95A>C | |
| 5 | g.55227026T= | CA1547390875 | MCIDAS | c.113A= (p.Glu38=) n.58-95A= | |
| 5 | g.55227027C>A | CA359734495 | MCIDAS | c.112G>T (p.Glu38Ter) n.58-96G>T | gnomAD v4 |
| 5 | g.55227027C= | CA1547390877 | MCIDAS | c.112G= (p.Glu38=) n.58-96G= | |
| 5 | g.55227027C>G | CA359734496 | MCIDAS | c.112G>C (p.Glu38Gln) n.58-96G>C | |
| 5 | g.55227027C>T | CA359734498 | MCIDAS | c.112G>A (p.Glu38Lys) n.58-96G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.55227034_55227042dup | CA2766523847 | MCIDAS | c.104_112dup (p.Pro37_Glu38insGlyLysPro) n.58-104_58-96dup | |
| 5 | g.55227028C>A | CA444186448 | MCIDAS | c.111G>T (p.Pro37=) n.58-97G>T | |
| 5 | g.55227028C>G | CA444186449 | MCIDAS | c.111G>C (p.Pro37=) n.58-97G>C | gnomAD v4 |
| 5 | g.55227028C>T | CA444186450 | MCIDAS | c.111G>A (p.Pro37=) n.58-97G>A | gnomAD v4 |
| 5 | g.55227029G>A | CA359734501 | MCIDAS | c.110C>T (p.Pro37Leu) n.58-98C>T | gnomAD v4 |
| 5 | g.55227029G>C | CA359734502 | MCIDAS | c.110C>G (p.Pro37Arg) n.58-98C>G | gnomAD v4 |
| 5 | g.55227029G>T | CA359734503 | MCIDAS | c.110C>A (p.Pro37Gln) n.58-98C>A | |
| 5 | g.55227030G>A | CA359734504 | MCIDAS | c.109C>T (p.Pro37Ser) n.58-99C>T | gnomAD v4 |
| 5 | g.55227030G>C | CA3266607 | MCIDAS | c.109C>G (p.Pro37Ala) n.58-99C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227030G= | CA1547390879 | MCIDAS | c.109C= (p.Pro37=) n.58-99C= | |
| 5 | g.55227030G>T | CA359734505 | MCIDAS | c.109C>A (p.Pro37Thr) n.58-99C>A | |
| 5 | g.55227031C>A | CA359734506 | MCIDAS | c.108G>T (p.Lys36Asn) n.58-100G>T | gnomAD v4 |
| 5 | g.55227031C= | CA1547390881 | MCIDAS | c.108G= (p.Lys36=) n.58-100G= | |
| 5 | g.55227031C>G | CA359734507 | MCIDAS | c.108G>C (p.Lys36Asn) n.58-100G>C | |
| 5 | g.55227031C>T | CA444186452 | MCIDAS | c.108G>A (p.Lys36=) n.58-100G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227032T>A | CA359734512 | MCIDAS | c.107A>T (p.Lys36Met) n.58-101A>T | |
| 5 | g.55227032T>C | CA359734510 | MCIDAS | c.107A>G (p.Lys36Arg) n.58-101A>G | |
| 5 | g.55227032T>G | CA359734508 | MCIDAS | c.107A>C (p.Lys36Thr) n.58-101A>C | |
| 5 | g.55227033T>A | CA359734513 | MCIDAS | c.106A>T (p.Lys36Ter) n.58-102A>T | |
| 5 | g.55227033T>C | CA359734515 | MCIDAS | c.106A>G (p.Lys36Glu) n.58-102A>G | gnomAD v4 |
| 5 | g.55227033T>G | CA359734517 | MCIDAS | c.106A>C (p.Lys36Gln) n.58-102A>C | |
| 5 | g.55227033T= | CA1547390883 | MCIDAS | c.106A= (p.Lys36=) n.58-102A= | |
| 5 | g.55227034C>A | CA444186453 | MCIDAS | c.105G>T (p.Gly35=) n.58-103G>T | |
| 5 | g.55227034C>G | CA444186454 | MCIDAS | c.105G>C (p.Gly35=) n.58-103G>C | |
| 5 | g.55227034C>T | CA444186455 | MCIDAS | c.105G>A (p.Gly35=) n.58-103G>A | |
| 5 | g.55227037dup | CA559800447 | MCIDAS | c.105dup (p.Lys36GlufsTer?) n.58-103dup | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227037del | CA559800446 | MCIDAS | c.105del (p.Lys36SerfsTer?) n.58-103del | gnomAD v2 gnomAD v4 |
| 5 | g.55227035C>A | CA359734519 | MCIDAS | c.104G>T (p.Gly35Val) n.58-104G>T | |
| 5 | g.55227035C>G | CA359734520 | MCIDAS | c.104G>C (p.Gly35Ala) n.58-104G>C | gnomAD v4 |
| 5 | g.55227035C>T | CA359734521 | MCIDAS | c.104G>A (p.Gly35Glu) n.58-104G>A | |
| 5 | g.55227036C>A | CA359734522 | MCIDAS | c.103G>T (p.Gly35Trp) n.58-105G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227036C= | CA1547390886 | MCIDAS | c.103G= (p.Gly35=) n.58-105G= | |
| 5 | g.55227036C>G | CA359734524 | MCIDAS | c.103G>C (p.Gly35Arg) n.58-105G>C | |
| 5 | g.55227036C>T | CA359734525 | MCIDAS | c.103G>A (p.Gly35Arg) n.58-105G>A | gnomAD v4 |
| 5 | g.55227037C>A | CA444186456 | MCIDAS | c.102G>T (p.Pro34=) n.58-106G>T | |
| 5 | g.55227037C= | CA1547390887 | MCIDAS | c.102G= (p.Pro34=) n.58-106G= | |
| 5 | g.55227037C>G | CA444186457 | MCIDAS | c.102G>C (p.Pro34=) n.58-106G>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.55227037C>T | CA444186458 | MCIDAS | c.102G>A (p.Pro34=) n.58-106G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227038G>A | CA359734526 | MCIDAS | c.101C>T (p.Pro34Leu) n.58-107C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227038G>C | CA359734527 | MCIDAS | c.101C>G (p.Pro34Arg) n.58-107C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227038G= | CA1547390889 | MCIDAS | c.101C= (p.Pro34=) n.58-107C= | |
| 5 | g.55227038G>T | CA359734528 | MCIDAS | c.101C>A (p.Pro34Gln) n.58-107C>A | |
| 5 | g.55227039G>A | CA359734530 | MCIDAS | c.100C>T (p.Pro34Ser) n.58-108C>T | gnomAD v4 |
| 5 | g.55227039G>C | CA359734533 | MCIDAS | c.100C>G (p.Pro34Ala) n.58-108C>G | |
| 5 | g.55227039G>T | CA359734531 | MCIDAS | c.100C>A (p.Pro34Thr) n.58-108C>A | gnomAD v4 |
| 5 | g.55227040C>A | CA359734534 | MCIDAS | c.99G>T (p.Lys33Asn) n.58-109G>T | |
| 5 | g.55227040C>G | CA359734535 | MCIDAS | c.99G>C (p.Lys33Asn) n.58-109G>C | gnomAD v4 |
| 5 | g.55227040C>T | CA444186459 | MCIDAS | c.99G>A (p.Lys33=) n.58-109G>A | gnomAD v4 |
| 5 | g.55227041T>A | CA359734536 | MCIDAS | c.98A>T (p.Lys33Met) n.58-110A>T | |
| 5 | g.55227041T>C | CA359734537 | MCIDAS | c.98A>G (p.Lys33Arg) n.58-110A>G | |
| 5 | g.55227041T>G | CA359734538 | MCIDAS | c.98A>C (p.Lys33Thr) n.58-110A>C | |
| 5 | g.55227042T>A | CA359734540 | MCIDAS | c.97A>T (p.Lys33Ter) n.58-111A>T | |
| 5 | g.55227042T>C | CA359734542 | MCIDAS | c.97A>G (p.Lys33Glu) n.58-111A>G | gnomAD v4 |
| 5 | g.55227042T>G | CA359734544 | MCIDAS | c.97A>C (p.Lys33Gln) n.58-111A>C | |
| 5 | g.55227043G>A | CA444186460 | MCIDAS | c.96C>T (p.Cys32=) n.58-112C>T | |
| 5 | g.55227043G>C | CA359734545 | MCIDAS | c.96C>G (p.Cys32Trp) n.58-112C>G | |
| 5 | g.55227043G= | CA1547390892 | MCIDAS | c.96C= (p.Cys32=) n.58-112C= | |
| 5 | g.55227043G>T | CA359734546 | MCIDAS | c.96C>A (p.Cys32Ter) n.58-112C>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227044C>A | CA359734548 | MCIDAS | c.95G>T (p.Cys32Phe) n.58-113G>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.55227044C= | CA1547390896 | MCIDAS | c.95G= (p.Cys32=) n.58-113G= | |
| 5 | g.55227044C>G | CA359734550 | MCIDAS | c.95G>C (p.Cys32Ser) n.58-113G>C | |
| 5 | g.55227044C>T | CA359734551 | MCIDAS | c.95G>A (p.Cys32Tyr) n.58-113G>A | gnomAD v4 |
| 5 | g.55227045A= | CA1547390898 | MCIDAS | c.94T= (p.Cys32=) n.58-114T= | |
| 5 | g.55227045A>C | CA359734555 | MCIDAS | c.94T>G (p.Cys32Gly) n.58-114T>G | |
| 5 | g.55227045A>G | CA359734554 | MCIDAS | c.94T>C (p.Cys32Arg) n.58-114T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.55227045A>T | CA359734553 | MCIDAS | c.94T>A (p.Cys32Ser) n.58-114T>A | |
| 5 | g.55227046G>A | CA444186462 | MCIDAS | c.93C>T (p.Leu31=) n.58-115C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.55227046G>C | CA3266608 | MCIDAS | c.93C>G (p.Leu31=) n.58-115C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227046G= | CA1547390901 | MCIDAS | c.93C= (p.Leu31=) n.58-115C= | |
| 5 | g.55227046G>T | CA444186461 | MCIDAS | c.93C>A (p.Leu31=) n.58-115C>A | |
| 5 | g.55227047A= | CA1547390903 | MCIDAS | c.92T= (p.Leu31=) n.58-116T= | |
| 5 | g.55227047A>C | CA359734558 | MCIDAS | c.92T>G (p.Leu31Arg) n.58-116T>G | |
| 5 | g.55227047A>G | CA359734559 | MCIDAS | c.92T>C (p.Leu31Pro) n.58-116T>C | dbSNP |
| 5 | g.55227047A>T | CA359734561 | MCIDAS | c.92T>A (p.Leu31His) n.58-116T>A | |
| 5 | g.55227048G>A | CA359734563 | MCIDAS | c.91C>T (p.Leu31Phe) n.58-117C>T | dbSNP |
| 5 | g.55227048G>C | CA359734564 | MCIDAS | c.91C>G (p.Leu31Val) n.58-117C>G | |
| 5 | g.55227048G= | CA1547390905 | MCIDAS | c.91C= (p.Leu31=) n.58-117C= | |
| 5 | g.55227048G>T | CA359734565 | MCIDAS | c.91C>A (p.Leu31Ile) n.58-117C>A | |
| 5 | g.55227049C>A | CA444186463 | MCIDAS | c.90G>T (p.Leu30=) n.58-118G>T | gnomAD v4 |
| 5 | g.55227049C>G | CA444186465 | MCIDAS | c.90G>C (p.Leu30=) n.58-118G>C | |
| 5 | g.55227049C>T | CA444186464 | MCIDAS | c.90G>A (p.Leu30=) n.58-118G>A | gnomAD v4 |
| 5 | g.55227050A>C | CA359734567 | MCIDAS | c.89T>G (p.Leu30Arg) n.58-119T>G | |
| 5 | g.55227050A>G | CA359734569 | MCIDAS | c.89T>C (p.Leu30Pro) n.58-119T>C | |
| 5 | g.55227050A>T | CA359734570 | MCIDAS | c.89T>A (p.Leu30Gln) n.58-119T>A | |
| 5 | g.55227051G>A | CA444186468 | MCIDAS | c.88C>T (p.Leu30=) n.58-120C>T | gnomAD v4 |
| 5 | g.55227051G>C | CA359734573 | MCIDAS | c.88C>G (p.Leu30Val) n.58-120C>G | |
| 5 | g.55227051G>T | CA359734574 | MCIDAS | c.88C>A (p.Leu30Met) n.58-120C>A | |
| 5 | g.55227052C>A | CA444186469 | MCIDAS | c.87G>T (p.Ala29=) n.58-121G>T | |
| 5 | g.55227052C>G | CA444186470 | MCIDAS | c.87G>C (p.Ala29=) n.58-121G>C | |
| 5 | g.55227052C>T | CA444186471 | MCIDAS | c.87G>A (p.Ala29=) n.58-121G>A | gnomAD v4 |
| 5 | g.55227053G>A | CA359734577 | MCIDAS | c.86C>T (p.Ala29Val) n.58-122C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.55227053G>C | CA359734579 | MCIDAS | c.86C>G (p.Ala29Gly) n.58-122C>G | |
| 5 | g.55227053G= | CA1547390908 | MCIDAS | c.86C= (p.Ala29=) n.58-122C= | |
| 5 | g.55227053G>T | CA359734576 | MCIDAS | c.86C>A (p.Ala29Glu) n.58-122C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.55227054C>A | CA359734581 | MCIDAS | c.85G>T (p.Ala29Ser) n.58-123G>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.55227054C= | CA1547390910 | MCIDAS | c.85G= (p.Ala29=) n.58-123G= | |
| 5 | g.55227054C>G | CA359734582 | MCIDAS | c.85G>C (p.Ala29Pro) n.58-123G>C | |
| 5 | g.55227054C>T | CA359734583 | MCIDAS | c.85G>A (p.Ala29Thr) n.58-123G>A | |
| 5 | g.55227055C>A | CA118983553 | MCIDAS | c.84G>T (p.Arg28=) n.58-124G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227055C= | CA1547390913 | MCIDAS | c.84G= (p.Arg28=) n.58-124G= | |
| 5 | g.55227055C>G | CA444186472 | MCIDAS | c.84G>C (p.Arg28=) n.58-124G>C | gnomAD v4 |
| 5 | g.55227055C>T | CA444186473 | MCIDAS | c.84G>A (p.Arg28=) n.58-124G>A | gnomAD v4 |
| 5 | g.55227056C>A | CA359734584 | MCIDAS | c.83G>T (p.Arg28Leu) n.58-125G>T | |
| 5 | g.55227056C= | CA1547390917 | MCIDAS | c.83G= (p.Arg28=) n.58-125G= | |
| 5 | g.55227056C>G | CA359734587 | MCIDAS | c.83G>C (p.Arg28Pro) n.58-125G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.55227056C>T | CA3266609 | MCIDAS | c.83G>A (p.Arg28Gln) n.58-125G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227057G>A | CA359734589 | MCIDAS | c.82C>T (p.Arg28Trp) n.58-126C>T | |
| 5 | g.55227057G>C | CA359734590 | MCIDAS | c.82C>G (p.Arg28Gly) n.58-126C>G | |
| 5 | g.55227057G>T | CA444186475 | MCIDAS | c.82C>A (p.Arg28=) n.58-126C>A | |
| 5 | g.55227058G>A | CA444186477 | MCIDAS | c.81C>T (p.Gly27=) n.58-127C>T | gnomAD v4 |
| 5 | g.55227058G>C | CA444186478 | MCIDAS | c.81C>G (p.Gly27=) n.58-127C>G | |
| 5 | g.55227058G>T | CA444186479 | MCIDAS | c.81C>A (p.Gly27=) n.58-127C>A | |
| 5 | g.55227059C>A | CA359734592 | MCIDAS | c.80G>T (p.Gly27Val) n.58-128G>T | gnomAD v4 |
| 5 | g.55227059C= | CA1547390919 | MCIDAS | c.80G= (p.Gly27=) n.58-128G= | |
| 5 | g.55227059C>G | CA359734595 | MCIDAS | c.80G>C (p.Gly27Ala) n.58-128G>C | |
| 5 | g.55227059C>T | CA359734596 | MCIDAS | c.80G>A (p.Gly27Asp) n.58-128G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227060C>A | CA359734598 | MCIDAS | c.79G>T (p.Gly27Cys) n.58-129G>T | |
| 5 | g.55227060C>G | CA359734600 | MCIDAS | c.79G>C (p.Gly27Arg) n.58-129G>C | |
| 5 | g.55227060C>T | CA359734602 | MCIDAS | c.79G>A (p.Gly27Ser) n.58-129G>A | |
| 5 | g.55227061C>A | CA118983558 | MCIDAS | c.78G>T (p.Pro26=) n.58-130G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227061C= | CA1547390922 | MCIDAS | c.78G= (p.Pro26=) n.58-130G= | |
| 5 | g.55227061C>G | CA444186481 | MCIDAS | c.78G>C (p.Pro26=) n.58-130G>C | dbSNP gnomAD v4 |
| 5 | g.55227061C>T | CA118983564 | MCIDAS | c.78G>A (p.Pro26=) n.58-130G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.55227062G>A | CA359734604 | MCIDAS | c.77C>T (p.Pro26Leu) n.58-131C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227062G>C | CA359734606 | MCIDAS | c.77C>G (p.Pro26Arg) n.58-131C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227062G= | CA1547390927 | MCIDAS | c.77C= (p.Pro26=) n.58-131C= | |
| 5 | g.55227062G>T | CA359734608 | MCIDAS | c.77C>A (p.Pro26Gln) n.58-131C>A | |
| 5 | g.55227063G>A | CA359734610 | MCIDAS | c.76C>T (p.Pro26Ser) n.58-132C>T | gnomAD v4 |
| 5 | g.55227063G>C | CA359734612 | MCIDAS | c.76C>G (p.Pro26Ala) n.58-132C>G | |
| 5 | g.55227063G>T | CA359734613 | MCIDAS | c.76C>A (p.Pro26Thr) n.58-132C>A | |
| 5 | g.55227064C>A | CA444186485 | MCIDAS | c.75G>T (p.Leu25=) n.58-133G>T | |
| 5 | g.55227064C= | CA1547390931 | MCIDAS | c.75G= (p.Leu25=) n.58-133G= | |
| 5 | g.55227064C>G | CA444186486 | MCIDAS | c.75G>C (p.Leu25=) n.58-133G>C | |
| 5 | g.55227064C>T | CA118983568 | MCIDAS | c.75G>A (p.Leu25=) n.58-133G>A | dbSNP gnomAD v4 |
| 5 | g.55227065A>C | CA359734615 | MCIDAS | c.74T>G (p.Leu25Arg) n.58-134T>G | |
| 5 | g.55227065A>G | CA359734617 | MCIDAS | c.74T>C (p.Leu25Pro) n.58-134T>C | |
| 5 | g.55227065A>T | CA359734618 | MCIDAS | c.74T>A (p.Leu25Gln) n.58-134T>A | |
| 5 | g.55227066G>A | CA444186487 | MCIDAS | c.73C>T (p.Leu25=) n.58-135C>T | |
| 5 | g.55227066G>C | CA359734620 | MCIDAS | c.73C>G (p.Leu25Val) n.58-135C>G | |
| 5 | g.55227066G>T | CA359734621 | MCIDAS | c.73C>A (p.Leu25Met) n.58-135C>A | |
| 5 | g.55227067T>A | CA444186488 | MCIDAS | c.72A>T (p.Ala24=) n.58-136A>T | ClinVar dbSNP |
| 5 | g.55227067T>C | CA444186489 | MCIDAS | c.72A>G (p.Ala24=) n.58-136A>G | ClinVar gnomAD v4 |
| 5 | g.55227067T>G | CA444186490 | MCIDAS | c.72A>C (p.Ala24=) n.58-136A>C | |
| 5 | g.55227068G>A | CA359734623 | MCIDAS | c.71C>T (p.Ala24Val) n.58-137C>T | gnomAD v4 |
| 5 | g.55227068G>C | CA359734624 | MCIDAS | c.71C>G (p.Ala24Gly) n.58-137C>G | |
| 5 | g.55227068G>T | CA359734626 | MCIDAS | c.71C>A (p.Ala24Glu) n.58-137C>A | gnomAD v4 |
| 5 | g.55227069C>A | CA359734628 | MCIDAS | c.70G>T (p.Ala24Ser) n.58-138G>T | gnomAD v4 |
| 5 | g.55227069C= | CA1547390935 | MCIDAS | c.70G= (p.Ala24=) n.58-138G= | |
| 5 | g.55227069C>G | CA359734629 | MCIDAS | c.70G>C (p.Ala24Pro) n.58-138G>C | |
| 5 | g.55227069C>T | CA118983576 | MCIDAS | c.70G>A (p.Ala24Thr) n.58-138G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227070dup | CA2673854969 | MCIDAS | c.70dup (p.Ala24GlyfsTer?) n.58-138dup | gnomAD v4 |
| 5 | g.55227070C>A | CA444186491 | MCIDAS | c.69G>T (p.Leu23=) n.57+136G>T | |
| 5 | g.55227070C>G | CA444186494 | MCIDAS | c.69G>C (p.Leu23=) n.57+136G>C | |
| 5 | g.55227070C>T | CA444186492 | MCIDAS | c.69G>A (p.Leu23=) n.57+136G>A | |
| 5 | g.55227071A= | CA1547390938 | MCIDAS | c.68T= (p.Leu23=) n.57+135T= | |
| 5 | g.55227071A>C | CA359734631 | MCIDAS | c.68T>G (p.Leu23Arg) n.57+135T>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227071A>G | CA359734630 | MCIDAS | c.68T>C (p.Leu23Pro) n.57+135T>C | ClinVar gnomAD v4 COSMIC |
| 5 | g.55227071A>T | CA359734632 | MCIDAS | c.68T>A (p.Leu23Gln) n.57+135T>A | |
| 5 | g.55227072G>A | CA444186496 | MCIDAS | c.67C>T (p.Leu23=) n.57+134C>T | gnomAD v4 |
| 5 | g.55227072G>C | CA359734633 | MCIDAS | c.67C>G (p.Leu23Val) n.57+134C>G | |
| 5 | g.55227072G>T | CA359734634 | MCIDAS | c.67C>A (p.Leu23Met) n.57+134C>A | |
| 5 | g.55227073C>A | CA359734635 | MCIDAS | c.66G>T (p.Met22Ile) n.57+133G>T | gnomAD v4 |
| 5 | g.55227073C= | CA1547390941 | MCIDAS | c.66G= (p.Met22=) n.57+133G= | |
| 5 | g.55227073C>G | CA118983578 | MCIDAS | c.66G>C (p.Met22Ile) n.57+133G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227073C>T | CA359734636 | MCIDAS | c.66G>A (p.Met22Ile) n.57+133G>A | |
| 5 | g.55227074A= | CA1547390943 | MCIDAS | c.65T= (p.Met22=) n.57+132T= | |
| 5 | g.55227074A>C | CA359734637 | MCIDAS | c.65T>G (p.Met22Arg) n.57+132T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227074A>G | CA359734638 | MCIDAS | c.65T>C (p.Met22Thr) n.57+132T>C | gnomAD v4 |
| 5 | g.55227074A>T | CA359734639 | MCIDAS | c.65T>A (p.Met22Lys) n.57+132T>A | |
| 5 | g.55227075T>A | CA359734640 | MCIDAS | c.64A>T (p.Met22Leu) n.57+131A>T | |
| 5 | g.55227075T>C | CA359734641 | MCIDAS | c.64A>G (p.Met22Val) n.57+131A>G | gnomAD v4 |
| 5 | g.55227075T>G | CA359734642 | MCIDAS | c.64A>C (p.Met22Leu) n.57+131A>C | |
| 5 | g.55227076T>A | CA359734643 | MCIDAS | c.63A>T (p.Arg21Ser) n.57+130A>T | |
| 5 | g.55227076T>C | CA444186501 | MCIDAS | c.63A>G (p.Arg21=) n.57+130A>G | |
| 5 | g.55227076T>G | CA359734644 | MCIDAS | c.63A>C (p.Arg21Ser) n.57+130A>C | |
| 5 | g.55227077C>A | CA359734645 | MCIDAS | c.62G>T (p.Arg21Ile) n.57+129G>T | gnomAD v4 |
| 5 | g.55227077C= | CA1547390946 | MCIDAS | c.62G= (p.Arg21=) n.57+129G= | |
| 5 | g.55227077C>G | CA359734647 | MCIDAS | c.62G>C (p.Arg21Thr) n.57+129G>C | |
| 5 | g.55227077C>T | CA359734649 | MCIDAS | c.62G>A (p.Arg21Lys) n.57+129G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227078T>A | CA359734651 | MCIDAS | c.61A>T (p.Arg21Ter) n.57+128A>T | |
| 5 | g.55227078T>C | CA359734652 | MCIDAS | c.61A>G (p.Arg21Gly) n.57+128A>G | gnomAD v4 COSMIC |
| 5 | g.55227078T>G | CA444186505 | MCIDAS | c.61A>C (p.Arg21=) n.57+128A>C | |
| 5 | g.55227079G>A | CA444186506 | MCIDAS | c.60C>T (p.Asn20=) n.57+127C>T | dbSNP gnomAD v4 |
| 5 | g.55227079G>C | CA359734655 | MCIDAS | c.60C>G (p.Asn20Lys) n.57+127C>G | |
| 5 | g.55227079G= | CA1547390948 | MCIDAS | c.60C= (p.Asn20=) n.57+127C= | |
| 5 | g.55227079G>T | CA359734657 | MCIDAS | c.60C>A (p.Asn20Lys) n.57+127C>A | |
| 5 | g.55227080T>A | CA359734659 | MCIDAS | c.59A>T (p.Asn20Ile) n.57+126A>T | |
| 5 | g.55227080T>C | CA359734661 | MCIDAS | c.59A>G (p.Asn20Ser) n.57+126A>G | ClinVar dbSNP |
| 5 | g.55227080T>G | CA359734662 | MCIDAS | c.59A>C (p.Asn20Thr) n.57+126A>C | |
| 5 | g.55227080T= | CA1547390950 | MCIDAS | c.59A= (p.Asn20=) n.57+126A= | |
| 5 | g.55227081T>A | CA359734663 | MCIDAS | c.58A>T (p.Asn20Tyr) n.57+125A>T | |
| 5 | g.55227081T>C | CA359734664 | MCIDAS | c.58A>G (p.Asn20Asp) n.57+125A>G | |
| 5 | g.55227081T>G | CA359734665 | MCIDAS | c.58A>C (p.Asn20His) n.57+125A>C | |
| 5 | g.55227082G>A | CA444186510 | MCIDAS | c.57C>T (p.Pro19=) n.57+124C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227082G>C | CA444186511 | MCIDAS | c.57C>G (p.Pro19=) n.57+124C>G | |
| 5 | g.55227082G= | CA1547390953 | MCIDAS | c.57C= (p.Pro19=) n.57+124C= | |
| 5 | g.55227082G>T | CA444186512 | MCIDAS | c.57C>A (p.Pro19=) n.57+124C>A | |
| 5 | g.55227085dup | CA2766523852 | MCIDAS | c.57dup (p.Asn20GlnfsTer?) n.57+124dup | |
| 5 | g.55227083G>A | CA359734666 | MCIDAS | c.56C>T (p.Pro19Leu) n.57+123C>T | |
| 5 | g.55227083G>C | CA118983579 | MCIDAS | c.56C>G (p.Pro19Arg) n.57+123C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.55227083G= | CA1547390955 | MCIDAS | c.56C= (p.Pro19=) n.57+123C= | |
| 5 | g.55227083G>T | CA359734667 | MCIDAS | c.56C>A (p.Pro19His) n.57+123C>A | |
| 5 | g.55227084G>A | CA359734668 | MCIDAS | c.55C>T (p.Pro19Ser) n.57+122C>T | gnomAD v4 |
| 5 | g.55227084G>C | CA359734669 | MCIDAS | c.55C>G (p.Pro19Ala) n.57+122C>G | |
| 5 | g.55227084G>T | CA359734670 | MCIDAS | c.55C>A (p.Pro19Thr) n.57+122C>A | gnomAD v4 |
| 5 | g.55227085G>A | CA444186515 | MCIDAS | c.54C>T (p.Cys18=) n.57+121C>T | gnomAD v4 |
| 5 | g.55227085G>C | CA359734673 | MCIDAS | c.54C>G (p.Cys18Trp) n.57+121C>G | |
| 5 | g.55227085G>T | CA359734672 | MCIDAS | c.54C>A (p.Cys18Ter) n.57+121C>A | |
| 5 | g.55227086C>A | CA359734676 | MCIDAS | c.53G>T (p.Cys18Phe) n.57+120G>T | gnomAD v4 |
| 5 | g.55227086C>G | CA359734678 | MCIDAS | c.53G>C (p.Cys18Ser) n.57+120G>C | |
| 5 | g.55227086C>T | CA359734679 | MCIDAS | c.53G>A (p.Cys18Tyr) n.57+120G>A | gnomAD v4 |
| 5 | g.55227087A>C | CA359734682 | MCIDAS | c.52T>G (p.Cys18Gly) n.57+119T>G | |
| 5 | g.55227087A>G | CA359734684 | MCIDAS | c.52T>C (p.Cys18Arg) n.57+119T>C | gnomAD v4 |
| 5 | g.55227087A>T | CA359734685 | MCIDAS | c.52T>A (p.Cys18Ser) n.57+119T>A | |
| 5 | g.55227088G>A | CA444186522 | MCIDAS | c.51C>T (p.Ile17=) n.57+118C>T | dbSNP gnomAD v4 |
| 5 | g.55227088G>C | CA359734687 | MCIDAS | c.51C>G (p.Ile17Met) n.57+118C>G | |
| 5 | g.55227088G= | CA1547390959 | MCIDAS | c.51C= (p.Ile17=) n.57+118C= | |
| 5 | g.55227088G>T | CA444186524 | MCIDAS | c.51C>A (p.Ile17=) n.57+118C>A | gnomAD v4 |
| 5 | g.55227089A>C | CA359734694 | MCIDAS | c.50T>G (p.Ile17Ser) n.57+117T>G | |
| 5 | g.55227089A>G | CA359734689 | MCIDAS | c.50T>C (p.Ile17Thr) n.57+117T>C | gnomAD v4 |
| 5 | g.55227089A>T | CA359734692 | MCIDAS | c.50T>A (p.Ile17Asn) n.57+117T>A | |
| 5 | g.55227090T>A | CA359734696 | MCIDAS | c.49A>T (p.Ile17Phe) n.57+116A>T | |
| 5 | g.55227090T>C | CA359734697 | MCIDAS | c.49A>G (p.Ile17Val) n.57+116A>G | |
| 5 | g.55227090T>G | CA359734700 | MCIDAS | c.49A>C (p.Ile17Leu) n.57+116A>C | gnomAD v4 |
| 5 | g.55227091G>A | CA444186525 | MCIDAS | c.48C>T (p.Ser16=) n.57+115C>T | gnomAD v4 |
| 5 | g.55227091G>C | CA359734702 | MCIDAS | c.48C>G (p.Ser16Arg) n.57+115C>G | |
| 5 | g.55227091G>T | CA359734704 | MCIDAS | c.48C>A (p.Ser16Arg) n.57+115C>A | |
| 5 | g.55227092C>A | CA359734706 | MCIDAS | c.47G>T (p.Ser16Ile) n.57+114G>T | gnomAD v4 |
| 5 | g.55227092C>G | CA359734710 | MCIDAS | c.47G>C (p.Ser16Thr) n.57+114G>C | |
| 5 | g.55227092C>T | CA359734708 | MCIDAS | c.47G>A (p.Ser16Asn) n.57+114G>A | dbSNP gnomAD v4 |
| 5 | g.55227093T>A | CA359734711 | MCIDAS | c.46A>T (p.Ser16Cys) n.57+113A>T | |
| 5 | g.55227093T>C | CA359734712 | MCIDAS | c.46A>G (p.Ser16Gly) n.57+113A>G | |
| 5 | g.55227093T>G | CA359734714 | MCIDAS | c.46A>C (p.Ser16Arg) n.57+113A>C | |
| 5 | g.55227094G>A | CA444186530 | MCIDAS | c.45C>T (p.Asp15=) n.57+112C>T | |
| 5 | g.55227094G>C | CA359734715 | MCIDAS | c.45C>G (p.Asp15Glu) n.57+112C>G | |
| 5 | g.55227094G>T | CA359734716 | MCIDAS | c.45C>A (p.Asp15Glu) n.57+112C>A | |
| 5 | g.55227095T>A | CA359734719 | MCIDAS | c.44A>T (p.Asp15Val) n.57+111A>T | |
| 5 | g.55227095T>C | CA359734721 | MCIDAS | c.44A>G (p.Asp15Gly) n.57+111A>G | gnomAD v4 |
| 5 | g.55227095T>G | CA359734722 | MCIDAS | c.44A>C (p.Asp15Ala) n.57+111A>C | |
| 5 | g.55227096C>A | CA359734724 | MCIDAS | c.43G>T (p.Asp15Tyr) n.57+110G>T | gnomAD v4 |
| 5 | g.55227096C>G | CA359734726 | MCIDAS | c.43G>C (p.Asp15His) n.57+110G>C | gnomAD v4 |
| 5 | g.55227096C>T | CA359734728 | MCIDAS | c.43G>A (p.Asp15Asn) n.57+110G>A | gnomAD v4 |
| 5 | g.55227097G>A | CA3266610 | MCIDAS | c.42C>T (p.Phe14=) n.57+109C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227097G>C | CA359734733 | MCIDAS | c.42C>G (p.Phe14Leu) n.57+109C>G | gnomAD v4 |
| 5 | g.55227097G= | CA1547390963 | MCIDAS | c.42C= (p.Phe14=) n.57+109C= | |
| 5 | g.55227097G>T | CA359734731 | MCIDAS | c.42C>A (p.Phe14Leu) n.57+109C>A | gnomAD v4 |
| 5 | g.55227098A>C | CA359734735 | MCIDAS | c.41T>G (p.Phe14Cys) n.57+108T>G | |
| 5 | g.55227098A>G | CA359734738 | MCIDAS | c.41T>C (p.Phe14Ser) n.57+108T>C | |
| 5 | g.55227098A>T | CA359734736 | MCIDAS | c.41T>A (p.Phe14Tyr) n.57+108T>A | |
| 5 | g.55227099A>C | CA359734741 | MCIDAS | c.40T>G (p.Phe14Val) n.57+107T>G | |
| 5 | g.55227099A>G | CA359734742 | MCIDAS | c.40T>C (p.Phe14Leu) n.57+107T>C | gnomAD v4 |
| 5 | g.55227099A>T | CA359734743 | MCIDAS | c.40T>A (p.Phe14Ile) n.57+107T>A | gnomAD v4 |
| 5 | g.55227100G>A | CA444186543 | MCIDAS | c.39C>T (p.Ala13=) n.57+106C>T | |
| 5 | g.55227100G>C | CA444186541 | MCIDAS | c.39C>G (p.Ala13=) n.57+106C>G | |
| 5 | g.55227100G>T | CA444186542 | MCIDAS | c.39C>A (p.Ala13=) n.57+106C>A | gnomAD v4 |
| 5 | g.55227101G>A | CA359734745 | MCIDAS | c.38C>T (p.Ala13Val) n.57+105C>T | gnomAD v4 |
| 5 | g.55227101G>C | CA359734747 | MCIDAS | c.38C>G (p.Ala13Gly) n.57+105C>G | |
| 5 | g.55227101G= | CA1547390965 | MCIDAS | c.38C= (p.Ala13=) n.57+105C= | |
| 5 | g.55227101G>T | CA359734748 | MCIDAS | c.38C>A (p.Ala13Asp) n.57+105C>A | ClinVar dbSNP |
| 5 | g.55227102C>A | CA359734750 | MCIDAS | c.37G>T (p.Ala13Ser) n.57+104G>T | |
| 5 | g.55227102C>G | CA359734752 | MCIDAS | c.37G>C (p.Ala13Pro) n.57+104G>C | |
| 5 | g.55227102C>T | CA359734754 | MCIDAS | c.37G>A (p.Ala13Thr) n.57+104G>A | gnomAD v4 |
| 5 | g.55227103C>A | CA444186548 | MCIDAS | c.36G>T (p.Arg12=) n.57+103G>T | |
| 5 | g.55227103C= | CA1547390970 | MCIDAS | c.36G= (p.Arg12=) n.57+103G= | |
| 5 | g.55227103C>G | CA444186549 | MCIDAS | c.36G>C (p.Arg12=) n.57+103G>C | |
| 5 | g.55227103C>T | CA444186550 | MCIDAS | c.36G>A (p.Arg12=) n.57+103G>A | dbSNP |
| 5 | g.55227104C>A | CA359734756 | MCIDAS | c.35G>T (p.Arg12Leu) n.57+102G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227104C= | CA1547390973 | MCIDAS | c.35G= (p.Arg12=) n.57+102G= | |
| 5 | g.55227104C>G | CA359734758 | MCIDAS | c.35G>C (p.Arg12Pro) n.57+102G>C | dbSNP |
| 5 | g.55227104C>T | CA359734760 | MCIDAS | c.35G>A (p.Arg12Gln) n.57+102G>A | |
| 5 | g.55227105G>A | CA359734763 | MCIDAS | c.34C>T (p.Arg12Trp) n.57+101C>T | gnomAD v4 |
| 5 | g.55227105G>C | CA359734765 | MCIDAS | c.34C>G (p.Arg12Gly) n.57+101C>G | |
| 5 | g.55227105G>T | CA444186551 | MCIDAS | c.34C>A (p.Arg12=) n.57+101C>A | gnomAD v4 |
| 5 | g.55227106A= | CA1547390978 | MCIDAS | c.33T= (p.Arg11=) n.57+100T= | |
| 5 | g.55227106A>C | CA444186555 | MCIDAS | c.33T>G (p.Arg11=) n.57+100T>G | |
| 5 | g.55227106A>G | CA444186558 | MCIDAS | c.33T>C (p.Arg11=) n.57+100T>C | dbSNP gnomAD v4 |
| 5 | g.55227106A>T | CA444186559 | MCIDAS | c.33T>A (p.Arg11=) n.57+100T>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.55227107C>A | CA359734767 | MCIDAS | c.32G>T (p.Arg11Leu) n.57+99G>T | gnomAD v4 |
| 5 | g.55227107C>G | CA359734769 | MCIDAS | c.32G>C (p.Arg11Pro) n.57+99G>C | |
| 5 | g.55227107C>T | CA359734771 | MCIDAS | c.32G>A (p.Arg11His) n.57+99G>A | gnomAD v4 |
| 5 | g.55227108G>A | CA359734776 | MCIDAS | c.31C>T (p.Arg11Cys) n.57+98C>T | gnomAD v4 |
| 5 | g.55227108G>C | CA359734778 | MCIDAS | c.31C>G (p.Arg11Gly) n.57+98C>G | |
| 5 | g.55227108G>T | CA359734780 | MCIDAS | c.31C>A (p.Arg11Ser) n.57+98C>A | |
| 5 | g.55227109G>A | CA444186562 | MCIDAS | c.30C>T (p.Gly10=) n.57+97C>T | gnomAD v4 |
| 5 | g.55227109G>C | CA444186565 | MCIDAS | c.30C>G (p.Gly10=) n.57+97C>G | |
| 5 | g.55227109G>T | CA444186566 | MCIDAS | c.30C>A (p.Gly10=) n.57+97C>A | |
| 5 | g.55227110C>A | CA359734783 | MCIDAS | c.29G>T (p.Gly10Val) n.57+96G>T | dbSNP gnomAD v4 |
| 5 | g.55227110C>G | CA359734784 | MCIDAS | c.29G>C (p.Gly10Ala) n.57+96G>C | |
| 5 | g.55227110C>T | CA359734787 | MCIDAS | c.29G>A (p.Gly10Asp) n.57+96G>A | gnomAD v4 |
| 5 | g.55227111C>A | CA359734789 | MCIDAS | c.28G>T (p.Gly10Cys) n.57+95G>T | gnomAD v4 |
| 5 | g.55227111C>G | CA359734791 | MCIDAS | c.28G>C (p.Gly10Arg) n.57+95G>C | gnomAD v4 |
| 5 | g.55227111C>T | CA359734792 | MCIDAS | c.28G>A (p.Gly10Ser) n.57+95G>A | gnomAD v4 |
| 5 | g.55227112G>A | CA444186575 | MCIDAS | c.27C>T (p.Ala9=) n.57+94C>T | gnomAD v4 |
| 5 | g.55227112G>C | CA444186577 | MCIDAS | c.27C>G (p.Ala9=) n.57+94C>G | |
| 5 | g.55227112G>T | CA444186580 | MCIDAS | c.27C>A (p.Ala9=) n.57+94C>A | gnomAD v4 |
| 5 | g.55227113G>A | CA359734795 | MCIDAS | c.26C>T (p.Ala9Val) n.57+93C>T | dbSNP gnomAD v4 |
| 5 | g.55227113G>C | CA359734800 | MCIDAS | c.26C>G (p.Ala9Gly) n.57+93C>G | |
| 5 | g.55227113G= | CA1547390981 | MCIDAS | c.26C= (p.Ala9=) n.57+93C= | |
| 5 | g.55227113G>T | CA359734797 | MCIDAS | c.26C>A (p.Ala9Asp) n.57+93C>A | |
| 5 | g.55227114C>A | CA359734802 | MCIDAS | c.25G>T (p.Ala9Ser) n.57+92G>T | gnomAD v4 |
| 5 | g.55227114C>G | CA359734803 | MCIDAS | c.25G>C (p.Ala9Pro) n.57+92G>C | |
| 5 | g.55227114C>T | CA359734805 | MCIDAS | c.25G>A (p.Ala9Thr) n.57+92G>A | gnomAD v4 |
| 5 | g.55227115C>A | CA444186591 | MCIDAS | c.24G>T (p.Ala8=) n.57+91G>T | gnomAD v4 |
| 5 | g.55227115C= | CA1547390985 | MCIDAS | c.24G= (p.Ala8=) n.57+91G= | |
| 5 | g.55227115C>G | CA444186596 | MCIDAS | c.24G>C (p.Ala8=) n.57+91G>C | |
| 5 | g.55227115C>T | CA118983580 | MCIDAS | c.24G>A (p.Ala8=) n.57+91G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.55227116G>A | CA359734806 | MCIDAS | c.23C>T (p.Ala8Val) n.57+90C>T | gnomAD v4 |
| 5 | g.55227116G>C | CA359734808 | MCIDAS | c.23C>G (p.Ala8Gly) n.57+90C>G | |
| 5 | g.55227116G>T | CA359734810 | MCIDAS | c.23C>A (p.Ala8Glu) n.57+90C>A | gnomAD v4 |