Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.10489674G>ACA403985492KEAP1c.1505C>T (p.Ala502Val)
c.305-306C>T
c.324C>T
dbSNP
19g.10489674G>CCA403985511KEAP1c.1505C>G (p.Ala502Gly)
c.305-306C>G
c.324C>G
dbSNP
19g.10489674G>TCA403985496KEAP1c.1505C>A (p.Ala502Glu)
c.305-306C>A
c.324C>A
dbSNP
19g.10489675C>ACA403985515KEAP1c.1504G>T (p.Ala502Ser)
c.305-307G>T
c.323G>T
dbSNP
19g.10489675C=CA2322454422KEAP1c.1504G= (p.Ala502=)
c.305-307G=
c.323G=
19g.10489675C>GCA403985520KEAP1c.1504G>C (p.Ala502Pro)
c.305-307G>C
c.323G>C
dbSNP
19g.10489675C>TCA9195460KEAP1c.1504G>A (p.Ala502Thr)
c.305-307G>A
c.323G>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.10489676T>ACA505383414KEAP1c.1503A>T (p.Thr501=)
c.305-308A>T
c.322A>T
dbSNP
19g.10489676T>CCA505383415KEAP1c.1503A>G (p.Thr501=)
c.305-308A>G
c.322A>G
dbSNP
19g.10489676T>GCA505383416KEAP1c.1503A>C (p.Thr501=)
c.305-308A>C
c.322A>C
dbSNP
19g.10489676T=CA2322454423KEAP1c.1503A= (p.Thr501=)
c.305-308A=
c.322A=
19g.10489677G>ACA403985526KEAP1c.1502C>T (p.Thr501Ile)
c.305-309C>T
c.321C>T
dbSNP
19g.10489677G>CCA403985536KEAP1c.1502C>G (p.Thr501Arg)
c.305-309C>G
c.321C>G
dbSNP
19g.10489677G>TCA403985538KEAP1c.1502C>A (p.Thr501Lys)
c.305-309C>A
c.321C>A
19g.10489678T>ACA403985541KEAP1c.1501A>T (p.Thr501Ser)
c.305-310A>T
c.320A>T
dbSNP
19g.10489678T>CCA403985544KEAP1c.1501A>G (p.Thr501Ala)
c.305-310A>G
c.320A>G
dbSNP
19g.10489678T>GCA403985546KEAP1c.1501A>C (p.Thr501Pro)
c.305-310A>C
c.320A>C
19g.10489679G>ACA505383417KEAP1c.1500C>T (p.Ile500=)
c.305-311C>T
c.319C>T
dbSNP
19g.10489679G>CCA403985549KEAP1c.1500C>G (p.Ile500Met)
c.305-311C>G
c.319C>G
dbSNP
19g.10489679G>TCA505383418KEAP1c.1500C>A (p.Ile500=)
c.305-311C>A
c.319C>A
dbSNP
19g.10489680A>CCA403985553KEAP1c.1499T>G (p.Ile500Ser)
c.305-312T>G
c.318T>G
19g.10489680A>GCA403985561KEAP1c.1499T>C (p.Ile500Thr)
c.305-312T>C
c.318T>C
dbSNP gnomAD v4
19g.10489680A>TCA403985564KEAP1c.1499T>A (p.Ile500Asn)
c.305-312T>A
c.318T>A
dbSNP
19g.10489681T>ACA403985568KEAP1c.1498A>T (p.Ile500Phe)
c.305-313A>T
c.317A>T
dbSNP
19g.10489681T>CCA403985576KEAP1c.1498A>G (p.Ile500Val)
c.305-313A>G
c.317A>G
dbSNP
19g.10489681T>GCA403985574KEAP1c.1498A>C (p.Ile500Leu)
c.305-313A>C
c.317A>C
19g.10489682C>ACA403985579KEAP1c.1497G>T (p.Met499Ile)
c.305-314G>T
c.316G>T
dbSNP
19g.10489682C>GCA403985582KEAP1c.1497G>C (p.Met499Ile)
c.305-314G>C
c.316G>C
dbSNP
19g.10489682C>TCA403985584KEAP1c.1497G>A (p.Met499Ile)
c.305-314G>A
c.316G>A
dbSNP
19g.10489683A>CCA403985589KEAP1c.1496T>G (p.Met499Arg)
c.305-315T>G
c.315T>G
19g.10489683A>GCA403985592KEAP1c.1496T>C (p.Met499Thr)
c.305-315T>C
c.315T>C
19g.10489683A>TCA403985594KEAP1c.1496T>A (p.Met499Lys)
c.305-315T>A
c.315T>A
dbSNP
19g.10489684T>ACA403985599KEAP1c.1495A>T (p.Met499Leu)
c.305-316A>T
c.314A>T
19g.10489684T>CCA403985608KEAP1c.1495A>G (p.Met499Val)
c.305-316A>G
c.314A>G
ClinVar dbSNP gnomAD v4
19g.10489684T>GCA403985611KEAP1c.1495A>C (p.Met499Leu)
c.305-316A>C
c.314A>C
dbSNP
19g.10489685T>ACA505383421KEAP1c.1494A>T (p.Arg498=)
c.305-317A>T
c.313A>T
dbSNP
19g.10489685T>CCA505383420KEAP1c.1494A>G (p.Arg498=)
c.305-317A>G
c.313A>G
19g.10489685T>GCA505383419KEAP1c.1494A>C (p.Arg498=)
c.305-317A>C
c.313A>C
19g.10489686C>ACA403985617KEAP1c.1493G>T (p.Arg498Leu)
c.305-318G>T
c.312G>T
dbSNP
19g.10489686C=CA2322454424KEAP1c.1493G= (p.Arg498=)
c.305-318G=
c.312G=
19g.10489686C>GCA403985616KEAP1c.1493G>C (p.Arg498Pro)
c.305-318G>C
c.312G>C
dbSNP
19g.10489686C>TCA403985615KEAP1c.1493G>A (p.Arg498Gln)
c.305-318G>A
c.312G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.10489687G>ACA403985618KEAP1c.1492C>T (p.Arg498Ter)
c.305-319C>T
c.311C>T
dbSNP gnomAD v4
19g.10489687G>CCA403985620KEAP1c.1492C>G (p.Arg498Gly)
c.305-319C>G
c.311C>G
dbSNP
19g.10489687G>TCA505383422KEAP1c.1492C>A (p.Arg498=)
c.305-319C>A
c.311C>A
dbSNP
19g.10489688C>ACA403985625KEAP1c.1491G>T (p.Trp497Cys)
c.305-320G>T
c.310G>T
dbSNP
19g.10489688C>GCA403985627KEAP1c.1491G>C (p.Trp497Cys)
c.305-320G>C
c.310G>C
dbSNP
19g.10489688C>TCA403985629KEAP1c.1491G>A (p.Trp497Ter)
c.305-320G>A
c.310G>A
dbSNP
19g.10489689C>ACA403985632KEAP1c.1490G>T (p.Trp497Leu)
c.305-321G>T
c.309G>T
COSMIC
19g.10489689C>GCA403985634KEAP1c.1490G>C (p.Trp497Ser)
c.305-321G>C
c.309G>C
dbSNP
19g.10489689C>TCA403985638KEAP1c.1490G>A (p.Trp497Ter)
c.305-321G>A
c.309G>A
dbSNP
19g.10489690A>CCA403985642KEAP1c.1489T>G (p.Trp497Gly)
c.305-322T>G
c.308T>G
dbSNP
19g.10489690A>GCA403985646KEAP1c.1489T>C (p.Trp497Arg)
c.305-322T>C
c.308T>C
dbSNP
19g.10489690A>TCA403985648KEAP1c.1489T>A (p.Trp497Arg)
c.305-322T>A
c.308T>A
dbSNP
19g.10489691C>ACA403985651KEAP1c.1488G>T (p.Glu496Asp)
c.305-323G>T
c.307G>T
19g.10489691C=CA2322454425KEAP1c.1488G= (p.Glu496=)
c.305-323G=
c.307G=
19g.10489691C>GCA403985654KEAP1c.1488G>C (p.Glu496Asp)
c.305-323G>C
c.307G>C
dbSNP
19g.10489691C>TCA505383423KEAP1c.1488G>A (p.Glu496=)
c.305-323G>A
c.307G>A
dbSNP gnomAD v2 gnomAD v4
19g.10489692T>ACA403985664KEAP1c.1487A>T (p.Glu496Val)
c.305-324A>T
c.306A>T
dbSNP
19g.10489692T>CCA403985659KEAP1c.1487A>G (p.Glu496Gly)
c.305-324A>G
c.306A>G
dbSNP
19g.10489692T>GCA403985660KEAP1c.1487A>C (p.Glu496Ala)
c.305-324A>C
c.306A>C
19g.10489693C>ACA403985667KEAP1c.1486G>T (p.Glu496Ter)
c.305-325G>T
c.305G>T
dbSNP
19g.10489693C=CA2322454426KEAP1c.1486G= (p.Glu496=)
c.305-325G=
c.305G=
19g.10489693C>GCA403985670KEAP1c.1486G>C (p.Glu496Gln)
c.305-325G>C
c.305G>C
dbSNP gnomAD v4
19g.10489693C>TCA9195461KEAP1c.1486G>A (p.Glu496Lys)
c.305-325G>A
c.305G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10489694G>ACA9195462KEAP1c.1485C>T (p.Asn495=)
c.305-326C>T
c.304C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10489694G>CCA403985679KEAP1c.1485C>G (p.Asn495Lys)
c.305-326C>G
c.304C>G
dbSNP
19g.10489694G=CA2322454427KEAP1c.1485C= (p.Asn495=)
c.305-326C=
c.304C=
19g.10489694G>TCA403985682KEAP1c.1485C>A (p.Asn495Lys)
c.305-326C>A
c.304C>A
19g.10489695T>ACA403985687KEAP1c.1484A>T (p.Asn495Ile)
c.305-327A>T
c.303A>T
dbSNP
19g.10489695T>CCA403985689KEAP1c.1484A>G (p.Asn495Ser)
c.305-327A>G
c.303A>G
dbSNP
19g.10489695T>GCA403985693KEAP1c.1484A>C (p.Asn495Thr)
c.305-327A>C
c.303A>C
dbSNP
19g.10489696T>ACA403985699KEAP1c.1483A>T (p.Asn495Tyr)
c.305-328A>T
c.302A>T
19g.10489696T>CCA403985701KEAP1c.1483A>G (p.Asn495Asp)
c.305-328A>G
c.302A>G
dbSNP gnomAD v2
19g.10489696T>GCA403985705KEAP1c.1483A>C (p.Asn495His)
c.305-328A>C
c.302A>C
19g.10489696T=CA2322454428KEAP1c.1483A= (p.Asn495=)
c.305-328A=
c.302A=
19g.10489697C>ACA403985712KEAP1c.1482G>T (p.Arg494Ser)
c.305-329G>T
c.301G>T
19g.10489697C>GCA403985709KEAP1c.1482G>C (p.Arg494Ser)
c.305-329G>C
c.301G>C
19g.10489697C>TCA505383424KEAP1c.1482G>A (p.Arg494=)
c.305-329G>A
c.301G>A
dbSNP
19g.10489698C>ACA403985716KEAP1c.1481G>T (p.Arg494Met)
c.305-330G>T
c.300G>T
dbSNP
19g.10489698C>GCA403985722KEAP1c.1481G>C (p.Arg494Thr)
c.305-330G>C
c.300G>C
dbSNP
19g.10489698C>TCA403985718KEAP1c.1481G>A (p.Arg494Lys)
c.305-330G>A
c.300G>A
dbSNP
19g.10489699T>ACA403985725KEAP1c.1480A>T (p.Arg494Trp)
c.305-331A>T
c.299A>T
19g.10489699T>CCA403985728KEAP1c.1480A>G (p.Arg494Gly)
c.305-331A>G
c.299A>G
dbSNP
19g.10489699T>GCA505383425KEAP1c.1480A>C (p.Arg494=)
c.305-331A>C
c.299A>C
19g.10489700C>ACA403985731KEAP1c.1479G>T (p.Glu493Asp)
c.305-332G>T
c.298G>T
dbSNP
19g.10489700C>GCA403985732KEAP1c.1479G>C (p.Glu493Asp)
c.305-332G>C
c.298G>C
dbSNP COSMIC
19g.10489700C>TCA505383426KEAP1c.1479G>A (p.Glu493=)
c.305-332G>A
c.298G>A
dbSNP COSMIC
19g.10489701T>ACA403985737KEAP1c.1478A>T (p.Glu493Val)
c.305-333A>T
c.297A>T
19g.10489701T>CCA403985739KEAP1c.1478A>G (p.Glu493Gly)
c.305-333A>G
c.297A>G
dbSNP
19g.10489701T>GCA403985743KEAP1c.1478A>C (p.Glu493Ala)
c.305-333A>C
c.297A>C
19g.10489702C>ACA403985747KEAP1c.1477G>T (p.Glu493Ter)
c.305-334G>T
c.296G>T
dbSNP COSMIC
19g.10489702C>GCA403985750KEAP1c.1477G>C (p.Glu493Gln)
c.305-334G>C
c.296G>C
dbSNP COSMIC
19g.10489702C>TCA403985755KEAP1c.1477G>A (p.Glu493Lys)
c.305-334G>A
c.296G>A
dbSNP
19g.10489703T>ACA505383427KEAP1c.1476A>T (p.Pro492=)
c.305-335A>T
c.295A>T
dbSNP gnomAD v3 gnomAD v4
19g.10489703T>CCA9195463KEAP1c.1476A>G (p.Pro492=)
c.305-335A>G
c.295A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10489703T>GCA505383428KEAP1c.1476A>C (p.Pro492=)
c.305-335A>C
c.295A>C
19g.10489703T=CA2322454429KEAP1c.1476A= (p.Pro492=)
c.305-335A=
c.295A=
19g.10489704G>ACA403985770KEAP1c.1475C>T (p.Pro492Leu)
c.305-336C>T
c.294C>T
dbSNP
19g.10489704G>CCA403985766KEAP1c.1475C>G (p.Pro492Arg)
c.305-336C>G
c.294C>G
dbSNP
19g.10489704G>TCA403985761KEAP1c.1475C>A (p.Pro492Gln)
c.305-336C>A
c.294C>A
dbSNP
19g.10489705G>ACA403985774KEAP1c.1474C>T (p.Pro492Ser)
c.305-337C>T
c.293C>T
dbSNP
19g.10489705G>CCA403985776KEAP1c.1474C>G (p.Pro492Ala)
c.305-337C>G
c.293C>G
dbSNP
19g.10489705G>TCA403985779KEAP1c.1474C>A (p.Pro492Thr)
c.305-337C>A
c.293C>A
dbSNP
19g.10489706G>ACA505383429KEAP1c.1473C>T (p.Tyr491=)
c.305-338C>T
c.292C>T
dbSNP
19g.10489706G>CCA403985784KEAP1c.1473C>G (p.Tyr491Ter)
c.305-338C>G
c.292C>G
dbSNP
19g.10489706G>TCA403985787KEAP1c.1473C>A (p.Tyr491Ter)
c.305-338C>A
c.292C>A
19g.10489707T>ACA403985793KEAP1c.1472A>T (p.Tyr491Phe)
c.305-339A>T
c.291A>T
dbSNP
19g.10489707T>CCA403985804KEAP1c.1472A>G (p.Tyr491Cys)
c.305-339A>G
c.291A>G
dbSNP
19g.10489707T>GCA403985807KEAP1c.1472A>C (p.Tyr491Ser)
c.305-339A>C
c.291A>C
dbSNP
19g.10489708A>CCA403985811KEAP1c.1471T>G (p.Tyr491Asp)
c.305-340T>G
c.290T>G
19g.10489708A>GCA403985815KEAP1c.1471T>C (p.Tyr491His)
c.305-340T>C
c.290T>C
dbSNP
19g.10489708A>TCA403985818KEAP1c.1471T>A (p.Tyr491Asn)
c.305-340T>A
c.290T>A
dbSNP
19g.10489709G>ACA505383430KEAP1c.1470C>T (p.Tyr490=)
c.305-341C>T
c.289C>T
dbSNP
19g.10489709G>CCA403985824KEAP1c.1470C>G (p.Tyr490Ter)
c.305-341C>G
c.289C>G
dbSNP
19g.10489709G>TCA403985825KEAP1c.1470C>A (p.Tyr490Ter)
c.305-341C>A
c.289C>A
dbSNP
19g.10489710T>ACA403985829KEAP1c.1469A>T (p.Tyr490Phe)
c.305-342A>T
c.288A>T
19g.10489710T>CCA403985827KEAP1c.1469A>G (p.Tyr490Cys)
c.305-342A>G
c.288A>G
19g.10489710T>GCA403985826KEAP1c.1469A>C (p.Tyr490Ser)
c.305-342A>C
c.288A>C
19g.10489710dupCA2582389802KEAP1c.1469dup (p.Tyr490Ter)
c.305-342dup
c.288dup
gnomAD v4
19g.10489711A>CCA403985839KEAP1c.1468T>G (p.Tyr490Asp)
c.305-343T>G
c.287T>G
19g.10489711A>GCA403985832KEAP1c.1468T>C (p.Tyr490His)
c.305-343T>C
c.287T>C
dbSNP
19g.10489711A>TCA403985836KEAP1c.1468T>A (p.Tyr490Asn)
c.305-343T>A
c.287T>A
dbSNP
19g.10489712A=CA2322454430KEAP1c.1467T= (p.Cys489=)
c.305-344T=
c.286T=
19g.10489712A>CCA403985849KEAP1c.1467T>G (p.Cys489Trp)
c.305-344T>G
c.286T>G
19g.10489712A>GCA9195464KEAP1c.1467T>C (p.Cys489=)
c.305-344T>C
c.286T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10489712A>TCA403985851KEAP1c.1467T>A (p.Cys489Ter)
c.305-344T>A
c.286T>A
dbSNP
19g.10489713C>ACA403985853KEAP1c.1466G>T (p.Cys489Phe)
c.305-345G>T
c.285G>T
19g.10489713C>GCA403985856KEAP1c.1466G>C (p.Cys489Ser)
c.305-345G>C
c.285G>C
dbSNP
19g.10489713C>TCA403985858KEAP1c.1466G>A (p.Cys489Tyr)
c.305-345G>A
c.285G>A
dbSNP
19g.10489714A>CCA403985862KEAP1c.1465T>G (p.Cys489Gly)
c.305-346T>G
c.284T>G
dbSNP
19g.10489714A>GCA403985865KEAP1c.1465T>C (p.Cys489Arg)
c.305-346T>C
c.284T>C
gnomAD v4
19g.10489714A>TCA403985867KEAP1c.1465T>A (p.Cys489Ser)
c.305-346T>A
c.284T>A
dbSNP
19g.10489715C>ACA403985870KEAP1c.1464G>T (p.Glu488Asp)
c.305-347G>T
c.283G>T
dbSNP COSMIC
19g.10489715C=CA2322454431KEAP1c.1464G= (p.Glu488=)
c.305-347G=
c.283G=
19g.10489715C>GCA305199899KEAP1c.1464G>C (p.Glu488Asp)
c.305-347G>C
c.283G>C
dbSNP
19g.10489715C>TCA505383431KEAP1c.1464G>A (p.Glu488=)
c.305-347G>A
c.283G>A
19g.10489716T>ACA403985884KEAP1c.1463A>T (p.Glu488Val)
c.305-348A>T
c.282A>T
dbSNP
19g.10489716T>CCA403985875KEAP1c.1463A>G (p.Glu488Gly)
c.305-348A>G
c.282A>G
dbSNP
19g.10489716T>GCA403985880KEAP1c.1463A>C (p.Glu488Ala)
c.305-348A>C
c.282A>C
19g.10489717C>ACA403985891KEAP1c.1462G>T (p.Glu488Ter)
c.305-349G>T
c.281G>T
19g.10489717C>GCA403985898KEAP1c.1462G>C (p.Glu488Gln)
c.305-349G>C
c.281G>C
dbSNP
19g.10489717C>TCA403985900KEAP1c.1462G>A (p.Glu488Lys)
c.305-349G>A
c.281G>A
dbSNP gnomAD v4
19g.10489718A=CA2322454433KEAP1c.1461T= (p.Ala487=)
c.305-350T=
c.280T=
19g.10489718A>CCA505383432KEAP1c.1461T>G (p.Ala487=)
c.305-350T>G
c.280T>G
19g.10489718A>GCA505383433KEAP1c.1461T>C (p.Ala487=)
c.305-350T>C
c.280T>C
dbSNP
19g.10489718A>TCA9195465KEAP1c.1461T>A (p.Ala487=)
c.305-350T>A
c.280T>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.10489719G>ACA403985902KEAP1c.1460C>T (p.Ala487Val)
c.305-351C>T
c.279C>T
dbSNP
19g.10489719G>CCA403985905KEAP1c.1460C>G (p.Ala487Gly)
c.305-351C>G
c.279C>G
dbSNP
19g.10489719G>TCA403985910KEAP1c.1460C>A (p.Ala487Asp)
c.305-351C>A
c.279C>A
dbSNP COSMIC
19g.10489720C>ACA9195466KEAP1c.1459G>T (p.Ala487Ser)
c.305-352G>T
c.278G>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.10489720C=CA2322454434KEAP1c.1459G= (p.Ala487=)
c.305-352G=
c.278G=
19g.10489720C>GCA9195467KEAP1c.1459G>C (p.Ala487Pro)
c.305-352G>C
c.278G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10489720C>TCA403985919KEAP1c.1459G>A (p.Ala487Thr)
c.305-352G>A
c.278G>A
dbSNP
19g.10489721T>ACA505383434KEAP1c.1458A>T (p.Ser486=)
c.305-353A>T
c.277A>T
dbSNP
19g.10489721T>CCA505383435KEAP1c.1458A>G (p.Ser486=)
c.305-353A>G
c.277A>G
dbSNP
19g.10489721T>GCA505383436KEAP1c.1458A>C (p.Ser486=)
c.305-353A>C
c.277A>C
19g.10489722G>ACA403985921KEAP1c.1457C>T (p.Ser486Leu)
c.305-354C>T
c.276C>T
dbSNP
19g.10489722G>CCA403985922KEAP1c.1457C>G (p.Ser486Ter)
c.305-354C>G
c.276C>G
dbSNP
19g.10489722G=CA2322454437KEAP1c.1457C= (p.Ser486=)
c.305-354C=
c.276C=
19g.10489722G>TCA403985923KEAP1c.1457C>A (p.Ser486Ter)
c.305-354C>A
c.276C>A
dbSNP
19g.10489723A>CCA403985930KEAP1c.1456T>G (p.Ser486Ala)
c.305-355T>G
c.275T>G
19g.10489723A>GCA403985937KEAP1c.1456T>C (p.Ser486Pro)
c.305-355T>C
c.275T>C
19g.10489723A>TCA403985928KEAP1c.1456T>A (p.Ser486Thr)
c.305-355T>A
c.275T>A
19g.10489724A=CA2322454439KEAP1c.1455T= (p.Asn485=)
c.305-356T=
c.274T=
19g.10489724A>CCA9195468KEAP1c.1455T>G (p.Asn485Lys)
c.305-356T>G
c.274T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10489724A>GCA505383437KEAP1c.1455T>C (p.Asn485=)
c.305-356T>C
c.274T>C
19g.10489724A>TCA403985954KEAP1c.1455T>A (p.Asn485Lys)
c.305-356T>A
c.274T>A
19g.10489725T>ACA403985965KEAP1c.1454A>T (p.Asn485Ile)
c.305-357A>T
c.273A>T
dbSNP
19g.10489725T>CCA403985981KEAP1c.1454A>G (p.Asn485Ser)
c.305-357A>G
c.273A>G
dbSNP COSMIC
19g.10489725T>GCA403985993KEAP1c.1454A>C (p.Asn485Thr)
c.305-357A>C
c.273A>C
dbSNP
19g.10489726T>ACA403986009KEAP1c.1453A>T (p.Asn485Tyr)
c.305-358A>T
c.272A>T
19g.10489726T>CCA403986011KEAP1c.1453A>G (p.Asn485Asp)
c.305-358A>G
c.272A>G
19g.10489726T>GCA403986015KEAP1c.1453A>C (p.Asn485His)
c.305-358A>C
c.272A>C
19g.10489727A=CA2322454441KEAP1c.1452T= (p.Leu484=)
c.305-359T=
c.271T=
19g.10489727A>CCA505383438KEAP1c.1452T>G (p.Leu484=)
c.305-359T>G
c.271T>G
19g.10489727A>GCA505383439KEAP1c.1452T>C (p.Leu484=)
c.305-359T>C
c.271T>C
dbSNP
19g.10489727A>TCA9195469KEAP1c.1452T>A (p.Leu484=)
c.305-359T>A
c.271T>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.10489728A>CCA403986018KEAP1c.1451T>G (p.Leu484Arg)
c.305-360T>G
c.270T>G
19g.10489728A>GCA403986020KEAP1c.1451T>C (p.Leu484Pro)
c.305-360T>C
c.270T>C
dbSNP
19g.10489728A>TCA403986023KEAP1c.1451T>A (p.Leu484His)
c.305-360T>A
c.270T>A
dbSNP
19g.10489729G>ACA403986026KEAP1c.1450C>T (p.Leu484Phe)
c.305-361C>T
c.269C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.10489729G>CCA403986027KEAP1c.1450C>G (p.Leu484Val)
c.305-361C>G
c.269C>G
dbSNP
19g.10489729G=CA2322454442KEAP1c.1450C= (p.Leu484=)
c.305-361C=
c.269C=
19g.10489729G>TCA403986028KEAP1c.1450C>A (p.Leu484Ile)
c.305-361C>A
c.269C>A
dbSNP
19g.10489730G>ACA505383440KEAP1c.1449C>T (p.Arg483=)
c.305-362C>T
c.268C>T
dbSNP
19g.10489730G>CCA505383441KEAP1c.1449C>G (p.Arg483=)
c.305-362C>G
c.268C>G
dbSNP
19g.10489730G>TCA505383442KEAP1c.1449C>A (p.Arg483=)
c.305-362C>A
c.268C>A
dbSNP
19g.10489731C>ACA305199945KEAP1c.1448G>T (p.Arg483Leu)
c.305-363G>T
c.267G>T
dbSNP
19g.10489731C=CA2322454444KEAP1c.1448G= (p.Arg483=)
c.305-363G=
c.267G=
19g.10489731C>GCA403986032KEAP1c.1448G>C (p.Arg483Pro)
c.305-363G>C
c.267G>C
dbSNP
19g.10489731C>TCA403986029KEAP1c.1448G>A (p.Arg483His)
c.305-363G>A
c.267G>A
dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.10489732G>ACA403986047KEAP1c.1447C>T (p.Arg483Cys)
c.305-364C>T
c.266C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.10489732G>CCA403986054KEAP1c.1447C>G (p.Arg483Gly)
c.305-364C>G
c.266C>G
dbSNP
19g.10489732G=CA2322454446KEAP1c.1447C= (p.Arg483=)
c.305-364C=
c.266C=
19g.10489732G>TCA403986058KEAP1c.1447C>A (p.Arg483Ser)
c.305-364C>A
c.266C>A
dbSNP gnomAD v4 COSMIC
19g.10489733G>ACA9195470KEAP1c.1446C>T (p.Asn482=)
c.305-365C>T
c.265C>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.10489733G>CCA403986063KEAP1c.1446C>G (p.Asn482Lys)
c.305-365C>G
c.265C>G
dbSNP
19g.10489733G=CA2322454448KEAP1c.1446C= (p.Asn482=)
c.305-365C=
c.265C=
19g.10489733G>TCA403986072KEAP1c.1446C>A (p.Asn482Lys)
c.305-365C>A
c.265C>A
19g.10489734T>ACA403986074KEAP1c.1445A>T (p.Asn482Ile)
c.305-366A>T
c.264A>T
dbSNP
19g.10489734T>CCA403986076KEAP1c.1445A>G (p.Asn482Ser)
c.305-366A>G
c.264A>G
dbSNP
19g.10489734T>GCA403986078KEAP1c.1445A>C (p.Asn482Thr)
c.305-366A>C
c.264A>C
dbSNP
19g.10489735T>ACA403986082KEAP1c.1444A>T (p.Asn482Tyr)
c.305-367A>T
c.263A>T
dbSNP
19g.10489735T>CCA403986089KEAP1c.1444A>G (p.Asn482Asp)
c.305-367A>G
c.263A>G
dbSNP gnomAD v4
19g.10489735T>GCA403986091KEAP1c.1444A>C (p.Asn482His)
c.305-367A>C
c.263A>C
dbSNP
19g.10489736T>ACA505383443KEAP1c.1443A>T (p.Thr481=)
c.305-368A>T
c.262A>T
19g.10489736T>CCA505383444KEAP1c.1443A>G (p.Thr481=)
c.305-368A>G
c.262A>G
19g.10489736T>GCA505383445KEAP1c.1443A>C (p.Thr481=)
c.305-368A>C
c.262A>C
19g.10489737G>ACA403986095KEAP1c.1442C>T (p.Thr481Ile)
c.305-369C>T
c.261C>T
dbSNP gnomAD v4
19g.10489737G>CCA403986096KEAP1c.1442C>G (p.Thr481Arg)
c.305-369C>G
c.261C>G
dbSNP
19g.10489737G=CA2322454450KEAP1c.1442C= (p.Thr481=)
c.305-369C=
c.261C=
19g.10489737G>TCA9195471KEAP1c.1442C>A (p.Thr481Lys)
c.305-369C>A
c.261C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10489738T>ACA403986098KEAP1c.1441A>T (p.Thr481Ser)
c.305-370A>T
c.260A>T
19g.10489738T>CCA403986100KEAP1c.1441A>G (p.Thr481Ala)
c.305-370A>G
c.260A>G
dbSNP
19g.10489738T>GCA403986104KEAP1c.1441A>C (p.Thr481Pro)
c.305-370A>C
c.260A>C
19g.10489739C>ACA505383446KEAP1c.1440G>T (p.Gly480=)
c.305-371G>T
c.259G>T
dbSNP
19g.10489739C>GCA505383447KEAP1c.1440G>C (p.Gly480=)
c.305-371G>C
c.259G>C
dbSNP
19g.10489739C>TCA505383448KEAP1c.1440G>A (p.Gly480=)
c.305-371G>A
c.259G>A
dbSNP
19g.10489740C>ACA403986114KEAP1c.1439G>T (p.Gly480Val)
c.305-372G>T
c.258G>T
dbSNP
19g.10489740C=CA2322454451KEAP1c.1439G= (p.Gly480=)
c.305-372G=
c.258G=
19g.10489740C>GCA403986121KEAP1c.1439G>C (p.Gly480Ala)
c.305-372G>C
c.258G>C
dbSNP gnomAD v4
19g.10489740C>TCA305199954KEAP1c.1439G>A (p.Gly480Glu)
c.305-372G>A
c.258G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.10489741C>ACA403986124KEAP1c.1438G>T (p.Gly480Trp)
c.305-373G>T
c.257G>T
dbSNP COSMIC
19g.10489741C>GCA403986125KEAP1c.1438G>C (p.Gly480Arg)
c.305-373G>C
c.257G>C
dbSNP gnomAD v4
19g.10489741C>TCA403986126KEAP1c.1438G>A (p.Gly480Arg)
c.305-373G>A
c.257G>A
dbSNP
19g.10489742G>ACA9195472KEAP1c.1437C>T (p.Asp479=)
c.305-374C>T
c.256C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10489742G>CCA403986128KEAP1c.1437C>G (p.Asp479Glu)
c.305-374C>G
c.256C>G
dbSNP
19g.10489742G=CA2322454452KEAP1c.1437C= (p.Asp479=)
c.305-374C=
c.256C=
19g.10489742G>TCA403986131KEAP1c.1437C>A (p.Asp479Glu)
c.305-374C>A
c.256C>A
19g.10489743T>ACA403986150KEAP1c.1436A>T (p.Asp479Val)
c.305-375A>T
c.255A>T
dbSNP
19g.10489743T>CCA403986148KEAP1c.1436A>G (p.Asp479Gly)
c.305-375A>G
c.255A>G
dbSNP COSMIC
19g.10489743T>GCA403986133KEAP1c.1436A>C (p.Asp479Ala)
c.305-375A>C
c.255A>C
dbSNP
19g.10489744C>ACA403986161KEAP1c.1435G>T (p.Asp479Tyr)
c.305-376G>T
c.254G>T
dbSNP
19g.10489744C=CA2322454453KEAP1c.1435G= (p.Asp479=)
c.305-376G=
c.254G=
19g.10489744C>GCA403986164KEAP1c.1435G>C (p.Asp479His)
c.305-376G>C
c.254G>C
dbSNP
19g.10489744C>TCA403986167KEAP1c.1435G>A (p.Asp479Asn)
c.305-376G>A
c.254G>A
dbSNP gnomAD v3 gnomAD v4
19g.10489745A>CCA403986170KEAP1c.1434T>G (p.Phe478Leu)
c.305-377T>G
c.253T>G
19g.10489745A>GCA505383449KEAP1c.1434T>C (p.Phe478=)
c.305-377T>C
c.253T>C
dbSNP
19g.10489745A>TCA403986173KEAP1c.1434T>A (p.Phe478Leu)
c.305-377T>A
c.253T>A
dbSNP
19g.10489746A>CCA403986178KEAP1c.1433T>G (p.Phe478Cys)
c.305-378T>G
c.252T>G
19g.10489746A>GCA403986182KEAP1c.1433T>C (p.Phe478Ser)
c.305-378T>C
c.252T>C
dbSNP
19g.10489746A>TCA403986183KEAP1c.1433T>A (p.Phe478Tyr)
c.305-378T>A
c.252T>A
dbSNP
19g.10489747A>CCA403986184KEAP1c.1432T>G (p.Phe478Val)
c.305-379T>G
c.251T>G
19g.10489747A>GCA403986187KEAP1c.1432T>C (p.Phe478Leu)
c.305-379T>C
c.251T>C
19g.10489747A>TCA403986195KEAP1c.1432T>A (p.Phe478Ile)
c.305-379T>A
c.251T>A
19g.10489748G>ACA9195473KEAP1c.1431C>T (p.Gly477=)
c.305-380C>T
c.250C>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.10489748G>CCA505383450KEAP1c.1431C>G (p.Gly477=)
c.305-380C>G
c.250C>G
19g.10489748G=CA2322454454KEAP1c.1431C= (p.Gly477=)
c.305-380C=
c.250C=
19g.10489748G>TCA505383451KEAP1c.1431C>A (p.Gly477=)
c.305-380C>A
c.250C>A
19g.10489749C>ACA403986204KEAP1c.1430G>T (p.Gly477Val)
c.305-381G>T
c.249G>T
dbSNP
19g.10489749C>GCA403986214KEAP1c.1430G>C (p.Gly477Ala)
c.305-381G>C
c.249G>C
dbSNP
19g.10489749C>TCA403986208KEAP1c.1430G>A (p.Gly477Asp)
c.305-381G>A
c.249G>A
dbSNP
19g.10489754dupCA2582389803KEAP1c.1430dup (p.Phe478LeufsTer2)
c.305-381dup
c.249dup
gnomAD v4
19g.10489750C>ACA403986217KEAP1c.1429G>T (p.Gly477Cys)
c.305-382G>T
c.248G>T
dbSNP
19g.10489750C=CA2322454455KEAP1c.1429G= (p.Gly477=)
c.305-382G=
c.248G=
19g.10489750C>GCA403986222KEAP1c.1429G>C (p.Gly477Arg)
c.305-382G>C
c.248G>C
19g.10489750C>TCA9195474KEAP1c.1429G>A (p.Gly477Ser)
c.305-382G>A
c.248G>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.10489751C>ACA505383452KEAP1c.1428G>T (p.Gly476=)
c.305-383G>T
c.247G>T
dbSNP
19g.10489751C>GCA505383453KEAP1c.1428G>C (p.Gly476=)
c.305-383G>C
c.247G>C
dbSNP
19g.10489751C>TCA505383454KEAP1c.1428G>A (p.Gly476=)
c.305-383G>A
c.247G>A
dbSNP
19g.10489752C>ACA403986226KEAP1c.1427G>T (p.Gly476Val)
c.305-384G>T
c.246G>T
19g.10489752C>GCA403986249KEAP1c.1427G>C (p.Gly476Ala)
c.305-384G>C
c.246G>C
19g.10489752C>TCA403986238KEAP1c.1427G>A (p.Gly476Glu)
c.305-384G>A
c.246G>A
19g.10489753C>ACA403986254KEAP1c.1426G>T (p.Gly476Trp)
c.305-385G>T
c.245G>T
dbSNP
19g.10489753C>GCA403986257KEAP1c.1426G>C (p.Gly476Arg)
c.305-385G>C
c.245G>C
dbSNP
19g.10489753C>TCA403986262KEAP1c.1426G>A (p.Gly476Arg)
c.305-385G>A
c.245G>A
dbSNP
19g.10489754C>ACA9195475KEAP1c.1425G>T (p.Val475=)
c.305-386G>T
c.244G>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.10489754C=CA2322454456KEAP1c.1425G= (p.Val475=)
c.305-386G=
c.244G=
19g.10489754C>GCA9195476KEAP1c.1425G>C (p.Val475=)
c.305-386G>C
c.244G>C
dbSNP ExAC gnomAD v2 gnomAD v4
19g.10489754C>TCA505383455KEAP1c.1425G>A (p.Val475=)
c.305-386G>A
c.244G>A
19g.10489755A=CA2322454457KEAP1c.1424T= (p.Val475=)
c.305-387T=
c.243T=
19g.10489755A>CCA403986275KEAP1c.1424T>G (p.Val475Gly)
c.305-387T>G
c.243T>G
dbSNP
19g.10489755A>GCA403986277KEAP1c.1424T>C (p.Val475Ala)
c.305-387T>C
c.243T>C
dbSNP
19g.10489755A>TCA403986280KEAP1c.1424T>A (p.Val475Glu)
c.305-387T>A
c.243T>A
dbSNP
19g.10489756C>ACA305199966KEAP1c.1423G>T (p.Val475Leu)
c.305-388G>T
c.242G>T
dbSNP gnomAD v4
19g.10489756C=CA2322454458KEAP1c.1423G= (p.Val475=)
c.305-388G=
c.242G=
19g.10489756C>GCA403986288KEAP1c.1423G>C (p.Val475Leu)
c.305-388G>C
c.242G>C
dbSNP COSMIC
19g.10489756C>TCA9195477KEAP1c.1423G>A (p.Val475Met)
c.305-388G>A
c.242G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10489757G>ACA505383456KEAP1c.1422C>T (p.Ala474=)
c.305-389C>T
c.241C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.10489757G>CCA505383457KEAP1c.1422C>G (p.Ala474=)
c.305-389C>G
c.241C>G
dbSNP
19g.10489757G=CA2322454459KEAP1c.1422C= (p.Ala474=)
c.305-389C=
c.241C=
19g.10489757G>TCA505383458KEAP1c.1422C>A (p.Ala474=)
c.305-389C>A
c.241C>A
dbSNP
19g.10489758G>ACA305199968KEAP1c.1421C>T (p.Ala474Val)
c.305-390C>T
c.240C>T
dbSNP gnomAD v2
19g.10489758G>CCA403986299KEAP1c.1421C>G (p.Ala474Gly)
c.305-390C>G
c.240C>G
dbSNP
19g.10489758G=CA2322454460KEAP1c.1421C= (p.Ala474=)
c.305-390C=
c.240C=
19g.10489758G>TCA403986295KEAP1c.1421C>A (p.Ala474Asp)
c.305-390C>A
c.240C>A
dbSNP
19g.10489759C>ACA403986305KEAP1c.1420G>T (p.Ala474Ser)
c.305-391G>T
c.239G>T
dbSNP
19g.10489759C=CA2322454461KEAP1c.1420G= (p.Ala474=)
c.305-391G=
c.239G=
19g.10489759C>GCA403986315KEAP1c.1420G>C (p.Ala474Pro)
c.305-391G>C
c.239G>C
dbSNP
19g.10489759C>TCA403986318KEAP1c.1420G>A (p.Ala474Thr)
c.305-391G>A
c.239G>A
dbSNP
19g.10489760A=CA2322454462KEAP1c.1419T= (p.Tyr473=)
c.305-392T=
c.238T=
19g.10489760A>CCA403986322KEAP1c.1419T>G (p.Tyr473Ter)
c.305-392T>G
c.238T>G
dbSNP
19g.10489760A>GCA505383459KEAP1c.1419T>C (p.Tyr473=)
c.305-392T>C
c.238T>C
19g.10489760A>TCA9195478KEAP1c.1419T>A (p.Tyr473Ter)
c.305-392T>A
c.238T>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10489761T>ACA403986324KEAP1c.1418A>T (p.Tyr473Phe)
c.305-393A>T
c.237A>T
19g.10489761T>CCA403986326KEAP1c.1418A>G (p.Tyr473Cys)
c.305-393A>G
c.237A>G
gnomAD v4
19g.10489761T>GCA403986330KEAP1c.1418A>C (p.Tyr473Ser)
c.305-393A>C
c.237A>C
19g.10489762A>CCA403986334KEAP1c.1417T>G (p.Tyr473Asp)
c.305-394T>G
c.236T>G
19g.10489762A>GCA403986336KEAP1c.1417T>C (p.Tyr473His)
c.305-394T>C
c.236T>C
19g.10489762A>TCA403986351KEAP1c.1417T>A (p.Tyr473Asn)
c.305-394T>A
c.236T>A
19g.10489763A=CA2322454463KEAP1c.1416T= (p.Leu472=)
c.305-395T=
c.235T=
19g.10489763A>CCA505383462KEAP1c.1416T>G (p.Leu472=)
c.305-395T>G
c.235T>G
19g.10489763A>GCA505383461KEAP1c.1416T>C (p.Leu472=)
c.305-395T>C
c.235T>C
dbSNP gnomAD v4
19g.10489763A>TCA505383460KEAP1c.1416T>A (p.Leu472=)
c.305-395T>A
c.235T>A
dbSNP
19g.10489764A>CCA403986363KEAP1c.1415T>G (p.Leu472Arg)
c.305-396T>G
c.234T>G
19g.10489764A>GCA403986362KEAP1c.1415T>C (p.Leu472Pro)
c.305-396T>C
c.234T>C
19g.10489764A>TCA403986356KEAP1c.1415T>A (p.Leu472His)
c.305-396T>A
c.234T>A
19g.10489765G>ACA403986365KEAP1c.1414C>T (p.Leu472Phe)
c.305-397C>T
c.233C>T
dbSNP
19g.10489765G>CCA403986368KEAP1c.1414C>G (p.Leu472Val)
c.305-397C>G
c.233C>G
dbSNP
19g.10489765G>TCA403986370KEAP1c.1414C>A (p.Leu472Ile)
c.305-397C>A
c.233C>A
19g.10489766G>ACA505383463KEAP1c.1413C>T (p.Leu471=)
c.305-398C>T
c.232C>T
gnomAD v4 COSMIC
19g.10489766G>CCA9195479KEAP1c.1413C>G (p.Leu471=)
c.305-398C>G
c.232C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10489766G=CA2322454464KEAP1c.1413C= (p.Leu471=)
c.305-398C=
c.232C=
19g.10489766G>TCA505383464KEAP1c.1413C>A (p.Leu471=)
c.305-398C>A
c.232C>A
gnomAD v4
19g.10489767A>CCA403986375KEAP1c.1412T>G (p.Leu471Arg)
c.305-399T>G
c.231T>G
19g.10489767A>GCA403986378KEAP1c.1412T>C (p.Leu471Pro)
c.305-399T>C
c.231T>C
19g.10489767A>TCA403986381KEAP1c.1412T>A (p.Leu471His)
c.305-399T>A
c.231T>A
dbSNP
19g.10489768G>ACA403986384KEAP1c.1411C>T (p.Leu471Phe)
c.305-400C>T
c.230C>T
dbSNP
19g.10489768G>CCA403986388KEAP1c.1411C>G (p.Leu471Val)
c.305-400C>G
c.230C>G
dbSNP
19g.10489768G>TCA403986391KEAP1c.1411C>A (p.Leu471Ile)
c.305-400C>A
c.230C>A
dbSNP
19g.10489768_10489784delinsGACGATTGAGGACAGCCCA2322454465KEAP1c.1395_1411delinsGGCTGTCCTCAATCGTC (p.Val465=)
c.305-416_305-400delinsGGCTGTCCTCAATCGTC
c.214_230delinsGGCTGTCCTCAATCGTC
19g.10489769A>CCA505383465KEAP1c.1410T>G (p.Arg470=)
c.305-401T>G
c.229T>G
dbSNP
19g.10489769A>GCA505383466KEAP1c.1410T>C (p.Arg470=)
c.305-401T>C
c.229T>C
dbSNP
19g.10489769A>TCA505383467KEAP1c.1410T>A (p.Arg470=)
c.305-401T>A
c.229T>A
dbSNP
19g.10489772_10489787delCA632056317KEAP1c.1395_1410del (p.Ala466SerfsTer29)
c.305-416_305-401del
c.214_229del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.10489770C>ACA403986395KEAP1c.1409G>T (p.Arg470Leu)
c.305-402G>T
c.228G>T
19g.10489770C>GCA403986398KEAP1c.1409G>C (p.Arg470Pro)
c.305-402G>C
c.228G>C
dbSNP
19g.10489770C>TCA403986400KEAP1c.1409G>A (p.Arg470His)
c.305-402G>A
c.228G>A
dbSNP COSMIC
19g.10489771G>ACA403986409KEAP1c.1408C>T (p.Arg470Cys)
c.305-403C>T
c.227C>T
dbSNP COSMIC
19g.10489771G>CCA403986403KEAP1c.1408C>G (p.Arg470Gly)
c.305-403C>G
c.227C>G
dbSNP
19g.10489771G>TCA403986406KEAP1c.1408C>A (p.Arg470Ser)
c.305-403C>A
c.227C>A
COSMIC
19g.10489772A>CCA403986412KEAP1c.1407T>G (p.Asn469Lys)
c.305-404T>G
c.226T>G
dbSNP
19g.10489772A>GCA505383468KEAP1c.1407T>C (p.Asn469=)
c.305-404T>C
c.226T>C
dbSNP
19g.10489772A>TCA403986413KEAP1c.1407T>A (p.Asn469Lys)
c.305-404T>A
c.226T>A
dbSNP
19g.10489773T>ACA403986417KEAP1c.1406A>T (p.Asn469Ile)
c.305-405A>T
c.225A>T
dbSNP
19g.10489773T>CCA305199978KEAP1c.1406A>G (p.Asn469Ser)
c.305-405A>G
c.225A>G
dbSNP gnomAD v4
19g.10489773T>GCA403986426KEAP1c.1406A>C (p.Asn469Thr)
c.305-405A>C
c.225A>C
dbSNP
19g.10489773T=CA2322454466KEAP1c.1406A= (p.Asn469=)
c.305-405A=
c.225A=
19g.10489774T>ACA403986430KEAP1c.1405A>T (p.Asn469Tyr)
c.305-406A>T
c.224A>T
dbSNP
19g.10489774T>CCA403986433KEAP1c.1405A>G (p.Asn469Asp)
c.305-406A>G
c.224A>G
19g.10489774T>GCA403986434KEAP1c.1405A>C (p.Asn469His)
c.305-406A>C
c.224A>C
dbSNP gnomAD v4

Number of alleles fetched