Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38698271C>ACA352155042SCN10Ac.4949G>T (p.Ser1650Ile)
c.4946G>T (p.Ser1649Ile)
c.4973G>T (p.Ser1658Ile)
c.4655G>T (p.Ser1552Ile)
c.4958G>T (p.Ser1653Ile)
c.4955G>T (p.Ser1652Ile)
c.4664G>T (p.Ser1555Ile)
3g.38698271C>GCA352155041SCN10Ac.4949G>C (p.Ser1650Thr)
c.4946G>C (p.Ser1649Thr)
c.4973G>C (p.Ser1658Thr)
c.4655G>C (p.Ser1552Thr)
c.4958G>C (p.Ser1653Thr)
c.4955G>C (p.Ser1652Thr)
c.4664G>C (p.Ser1555Thr)
3g.38698271C>TCA352155040SCN10Ac.4949G>A (p.Ser1650Asn)
c.4946G>A (p.Ser1649Asn)
c.4973G>A (p.Ser1658Asn)
c.4655G>A (p.Ser1552Asn)
c.4958G>A (p.Ser1653Asn)
c.4955G>A (p.Ser1652Asn)
c.4664G>A (p.Ser1555Asn)
gnomAD v4
3g.38698272T>ACA2319774SCN10Ac.4948A>T (p.Ser1650Cys)
c.4945A>T (p.Ser1649Cys)
c.4972A>T (p.Ser1658Cys)
c.4654A>T (p.Ser1552Cys)
c.4957A>T (p.Ser1653Cys)
c.4954A>T (p.Ser1652Cys)
c.4663A>T (p.Ser1555Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698272T>CCA352155043SCN10Ac.4948A>G (p.Ser1650Gly)
c.4945A>G (p.Ser1649Gly)
c.4972A>G (p.Ser1658Gly)
c.4654A>G (p.Ser1552Gly)
c.4957A>G (p.Ser1653Gly)
c.4954A>G (p.Ser1652Gly)
c.4663A>G (p.Ser1555Gly)
3g.38698272T>GCA352155044SCN10Ac.4948A>C (p.Ser1650Arg)
c.4945A>C (p.Ser1649Arg)
c.4972A>C (p.Ser1658Arg)
c.4654A>C (p.Ser1552Arg)
c.4957A>C (p.Ser1653Arg)
c.4954A>C (p.Ser1652Arg)
c.4663A>C (p.Ser1555Arg)
3g.38698272T=CA1358627814SCN10Ac.4948A= (p.Ser1650=)
c.4945A= (p.Ser1649=)
c.4972A= (p.Ser1658=)
c.4654A= (p.Ser1552=)
c.4957A= (p.Ser1653=)
c.4954A= (p.Ser1652=)
c.4663A= (p.Ser1555=)
3g.38698273G>ACA433334002SCN10Ac.4947C>T (p.Asn1649=)
c.4944C>T (p.Asn1648=)
c.4971C>T (p.Asn1657=)
c.4653C>T (p.Asn1551=)
c.4956C>T (p.Asn1652=)
c.4953C>T (p.Asn1651=)
c.4662C>T (p.Asn1554=)
dbSNP gnomAD v4
3g.38698273G>CCA352155045SCN10Ac.4947C>G (p.Asn1649Lys)
c.4944C>G (p.Asn1648Lys)
c.4971C>G (p.Asn1657Lys)
c.4653C>G (p.Asn1551Lys)
c.4956C>G (p.Asn1652Lys)
c.4953C>G (p.Asn1651Lys)
c.4662C>G (p.Asn1554Lys)
3g.38698273G=CA1358627815SCN10Ac.4947C= (p.Asn1649=)
c.4944C= (p.Asn1648=)
c.4971C= (p.Asn1657=)
c.4653C= (p.Asn1551=)
c.4956C= (p.Asn1652=)
c.4953C= (p.Asn1651=)
c.4662C= (p.Asn1554=)
3g.38698273G>TCA352155046SCN10Ac.4947C>A (p.Asn1649Lys)
c.4944C>A (p.Asn1648Lys)
c.4971C>A (p.Asn1657Lys)
c.4653C>A (p.Asn1551Lys)
c.4956C>A (p.Asn1652Lys)
c.4953C>A (p.Asn1651Lys)
c.4662C>A (p.Asn1554Lys)
dbSNP COSMIC
3g.38698274T>ACA352155049SCN10Ac.4946A>T (p.Asn1649Ile)
c.4943A>T (p.Asn1648Ile)
c.4970A>T (p.Asn1657Ile)
c.4652A>T (p.Asn1551Ile)
c.4955A>T (p.Asn1652Ile)
c.4952A>T (p.Asn1651Ile)
c.4661A>T (p.Asn1554Ile)
3g.38698274T>CCA352155048SCN10Ac.4946A>G (p.Asn1649Ser)
c.4943A>G (p.Asn1648Ser)
c.4970A>G (p.Asn1657Ser)
c.4652A>G (p.Asn1551Ser)
c.4955A>G (p.Asn1652Ser)
c.4952A>G (p.Asn1651Ser)
c.4661A>G (p.Asn1554Ser)
gnomAD v4
3g.38698274T>GCA352155047SCN10Ac.4946A>C (p.Asn1649Thr)
c.4943A>C (p.Asn1648Thr)
c.4970A>C (p.Asn1657Thr)
c.4652A>C (p.Asn1551Thr)
c.4955A>C (p.Asn1652Thr)
c.4952A>C (p.Asn1651Thr)
c.4661A>C (p.Asn1554Thr)
3g.38698275T>ACA352155050SCN10Ac.4945A>T (p.Asn1649Tyr)
c.4942A>T (p.Asn1648Tyr)
c.4969A>T (p.Asn1657Tyr)
c.4651A>T (p.Asn1551Tyr)
c.4954A>T (p.Asn1652Tyr)
c.4951A>T (p.Asn1651Tyr)
c.4660A>T (p.Asn1554Tyr)
3g.38698275T>CCA352155051SCN10Ac.4945A>G (p.Asn1649Asp)
c.4942A>G (p.Asn1648Asp)
c.4969A>G (p.Asn1657Asp)
c.4651A>G (p.Asn1551Asp)
c.4954A>G (p.Asn1652Asp)
c.4951A>G (p.Asn1651Asp)
c.4660A>G (p.Asn1554Asp)
3g.38698275T>GCA352155052SCN10Ac.4945A>C (p.Asn1649His)
c.4942A>C (p.Asn1648His)
c.4969A>C (p.Asn1657His)
c.4651A>C (p.Asn1551His)
c.4954A>C (p.Asn1652His)
c.4951A>C (p.Asn1651His)
c.4660A>C (p.Asn1554His)
3g.38698276G>ACA433334003SCN10Ac.4944C>T (p.Ala1648=)
c.4941C>T (p.Ala1647=)
c.4968C>T (p.Ala1656=)
c.4650C>T (p.Ala1550=)
c.4953C>T (p.Ala1651=)
c.4950C>T (p.Ala1650=)
c.4659C>T (p.Ala1553=)
3g.38698276G>CCA433334007SCN10Ac.4944C>G (p.Ala1648=)
c.4941C>G (p.Ala1647=)
c.4968C>G (p.Ala1656=)
c.4650C>G (p.Ala1550=)
c.4953C>G (p.Ala1651=)
c.4950C>G (p.Ala1650=)
c.4659C>G (p.Ala1553=)
3g.38698276G>TCA433334005SCN10Ac.4944C>A (p.Ala1648=)
c.4941C>A (p.Ala1647=)
c.4968C>A (p.Ala1656=)
c.4650C>A (p.Ala1550=)
c.4953C>A (p.Ala1651=)
c.4950C>A (p.Ala1650=)
c.4659C>A (p.Ala1553=)
3g.38698277G>ACA352155053SCN10Ac.4943C>T (p.Ala1648Val)
c.4940C>T (p.Ala1647Val)
c.4967C>T (p.Ala1656Val)
c.4649C>T (p.Ala1550Val)
c.4952C>T (p.Ala1651Val)
c.4949C>T (p.Ala1650Val)
c.4658C>T (p.Ala1553Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38698277G>CCA352155054SCN10Ac.4943C>G (p.Ala1648Gly)
c.4940C>G (p.Ala1647Gly)
c.4967C>G (p.Ala1656Gly)
c.4649C>G (p.Ala1550Gly)
c.4952C>G (p.Ala1651Gly)
c.4949C>G (p.Ala1650Gly)
c.4658C>G (p.Ala1553Gly)
3g.38698277G=CA1358627816SCN10Ac.4943C= (p.Ala1648=)
c.4940C= (p.Ala1647=)
c.4967C= (p.Ala1656=)
c.4649C= (p.Ala1550=)
c.4952C= (p.Ala1651=)
c.4949C= (p.Ala1650=)
c.4658C= (p.Ala1553=)
3g.38698277G>TCA352155055SCN10Ac.4943C>A (p.Ala1648Asp)
c.4940C>A (p.Ala1647Asp)
c.4967C>A (p.Ala1656Asp)
c.4649C>A (p.Ala1550Asp)
c.4952C>A (p.Ala1651Asp)
c.4949C>A (p.Ala1650Asp)
c.4658C>A (p.Ala1553Asp)
3g.38698278C>ACA352155056SCN10Ac.4942G>T (p.Ala1648Ser)
c.4939G>T (p.Ala1647Ser)
c.4966G>T (p.Ala1656Ser)
c.4648G>T (p.Ala1550Ser)
c.4951G>T (p.Ala1651Ser)
c.4948G>T (p.Ala1650Ser)
c.4657G>T (p.Ala1553Ser)
3g.38698278C=CA1358627817SCN10Ac.4942G= (p.Ala1648=)
c.4939G= (p.Ala1647=)
c.4966G= (p.Ala1656=)
c.4648G= (p.Ala1550=)
c.4951G= (p.Ala1651=)
c.4948G= (p.Ala1650=)
c.4657G= (p.Ala1553=)
3g.38698278C>GCA352155057SCN10Ac.4942G>C (p.Ala1648Pro)
c.4939G>C (p.Ala1647Pro)
c.4966G>C (p.Ala1656Pro)
c.4648G>C (p.Ala1550Pro)
c.4951G>C (p.Ala1651Pro)
c.4948G>C (p.Ala1650Pro)
c.4657G>C (p.Ala1553Pro)
gnomAD v4
3g.38698278C>TCA2319775SCN10Ac.4942G>A (p.Ala1648Thr)
c.4939G>A (p.Ala1647Thr)
c.4966G>A (p.Ala1656Thr)
c.4648G>A (p.Ala1550Thr)
c.4951G>A (p.Ala1651Thr)
c.4948G>A (p.Ala1650Thr)
c.4657G>A (p.Ala1553Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38698279G>ACA433334008SCN10Ac.4941C>T (p.Phe1647=)
c.4938C>T (p.Phe1646=)
c.4965C>T (p.Phe1655=)
c.4647C>T (p.Phe1549=)
c.4950C>T (p.Phe1650=)
c.4947C>T (p.Phe1649=)
c.4656C>T (p.Phe1552=)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38698279G>CCA352155058SCN10Ac.4941C>G (p.Phe1647Leu)
c.4938C>G (p.Phe1646Leu)
c.4965C>G (p.Phe1655Leu)
c.4647C>G (p.Phe1549Leu)
c.4950C>G (p.Phe1650Leu)
c.4947C>G (p.Phe1649Leu)
c.4656C>G (p.Phe1552Leu)
3g.38698279G=CA1358627818SCN10Ac.4941C= (p.Phe1647=)
c.4938C= (p.Phe1646=)
c.4965C= (p.Phe1655=)
c.4647C= (p.Phe1549=)
c.4950C= (p.Phe1650=)
c.4947C= (p.Phe1649=)
c.4656C= (p.Phe1552=)
3g.38698279G>TCA352155059SCN10Ac.4941C>A (p.Phe1647Leu)
c.4938C>A (p.Phe1646Leu)
c.4965C>A (p.Phe1655Leu)
c.4647C>A (p.Phe1549Leu)
c.4950C>A (p.Phe1650Leu)
c.4947C>A (p.Phe1649Leu)
c.4656C>A (p.Phe1552Leu)
3g.38698280A=CA1358627819SCN10Ac.4940T= (p.Phe1647=)
c.4937T= (p.Phe1646=)
c.4964T= (p.Phe1655=)
c.4646T= (p.Phe1549=)
c.4949T= (p.Phe1650=)
c.4946T= (p.Phe1649=)
c.4655T= (p.Phe1552=)
3g.38698280A>CCA352155060SCN10Ac.4940T>G (p.Phe1647Cys)
c.4937T>G (p.Phe1646Cys)
c.4964T>G (p.Phe1655Cys)
c.4646T>G (p.Phe1549Cys)
c.4949T>G (p.Phe1650Cys)
c.4946T>G (p.Phe1649Cys)
c.4655T>G (p.Phe1552Cys)
dbSNP gnomAD v4
3g.38698280A>GCA352155061SCN10Ac.4940T>C (p.Phe1647Ser)
c.4937T>C (p.Phe1646Ser)
c.4964T>C (p.Phe1655Ser)
c.4646T>C (p.Phe1549Ser)
c.4949T>C (p.Phe1650Ser)
c.4946T>C (p.Phe1649Ser)
c.4655T>C (p.Phe1552Ser)
3g.38698280A>TCA352155062SCN10Ac.4940T>A (p.Phe1647Tyr)
c.4937T>A (p.Phe1646Tyr)
c.4964T>A (p.Phe1655Tyr)
c.4646T>A (p.Phe1549Tyr)
c.4949T>A (p.Phe1650Tyr)
c.4946T>A (p.Phe1649Tyr)
c.4655T>A (p.Phe1552Tyr)
3g.38698281A>CCA352155063SCN10Ac.4939T>G (p.Phe1647Val)
c.4936T>G (p.Phe1646Val)
c.4963T>G (p.Phe1655Val)
c.4645T>G (p.Phe1549Val)
c.4948T>G (p.Phe1650Val)
c.4945T>G (p.Phe1649Val)
c.4654T>G (p.Phe1552Val)
3g.38698281A>GCA352155064SCN10Ac.4939T>C (p.Phe1647Leu)
c.4936T>C (p.Phe1646Leu)
c.4963T>C (p.Phe1655Leu)
c.4645T>C (p.Phe1549Leu)
c.4948T>C (p.Phe1650Leu)
c.4945T>C (p.Phe1649Leu)
c.4654T>C (p.Phe1552Leu)
3g.38698281A>TCA352155065SCN10Ac.4939T>A (p.Phe1647Ile)
c.4936T>A (p.Phe1646Ile)
c.4963T>A (p.Phe1655Ile)
c.4645T>A (p.Phe1549Ile)
c.4948T>A (p.Phe1650Ile)
c.4945T>A (p.Phe1649Ile)
c.4654T>A (p.Phe1552Ile)
3g.38698282G>ACA433334011SCN10Ac.4938C>T (p.Thr1646=)
c.4935C>T (p.Thr1645=)
c.4962C>T (p.Thr1654=)
c.4644C>T (p.Thr1548=)
c.4947C>T (p.Thr1649=)
c.4944C>T (p.Thr1648=)
c.4653C>T (p.Thr1551=)
COSMIC
3g.38698282G>CCA433334012SCN10Ac.4938C>G (p.Thr1646=)
c.4935C>G (p.Thr1645=)
c.4962C>G (p.Thr1654=)
c.4644C>G (p.Thr1548=)
c.4947C>G (p.Thr1649=)
c.4944C>G (p.Thr1648=)
c.4653C>G (p.Thr1551=)
gnomAD v4
3g.38698282G>TCA433334013SCN10Ac.4938C>A (p.Thr1646=)
c.4935C>A (p.Thr1645=)
c.4962C>A (p.Thr1654=)
c.4644C>A (p.Thr1548=)
c.4947C>A (p.Thr1649=)
c.4944C>A (p.Thr1648=)
c.4653C>A (p.Thr1551=)
3g.38698283G>ACA352155066SCN10Ac.4937C>T (p.Thr1646Ile)
c.4934C>T (p.Thr1645Ile)
c.4961C>T (p.Thr1654Ile)
c.4643C>T (p.Thr1548Ile)
c.4946C>T (p.Thr1649Ile)
c.4943C>T (p.Thr1648Ile)
c.4652C>T (p.Thr1551Ile)
gnomAD v4
3g.38698283G>CCA352155067SCN10Ac.4937C>G (p.Thr1646Ser)
c.4934C>G (p.Thr1645Ser)
c.4961C>G (p.Thr1654Ser)
c.4643C>G (p.Thr1548Ser)
c.4946C>G (p.Thr1649Ser)
c.4943C>G (p.Thr1648Ser)
c.4652C>G (p.Thr1551Ser)
3g.38698283G=CA1358627820SCN10Ac.4937C= (p.Thr1646=)
c.4934C= (p.Thr1645=)
c.4961C= (p.Thr1654=)
c.4643C= (p.Thr1548=)
c.4946C= (p.Thr1649=)
c.4943C= (p.Thr1648=)
c.4652C= (p.Thr1551=)
3g.38698283G>TCA352155068SCN10Ac.4937C>A (p.Thr1646Asn)
c.4934C>A (p.Thr1645Asn)
c.4961C>A (p.Thr1654Asn)
c.4643C>A (p.Thr1548Asn)
c.4946C>A (p.Thr1649Asn)
c.4943C>A (p.Thr1648Asn)
c.4652C>A (p.Thr1551Asn)
ClinVar dbSNP gnomAD v4
3g.38698284T>ACA352155070SCN10Ac.4936A>T (p.Thr1646Ser)
c.4933A>T (p.Thr1645Ser)
c.4960A>T (p.Thr1654Ser)
c.4642A>T (p.Thr1548Ser)
c.4945A>T (p.Thr1649Ser)
c.4942A>T (p.Thr1648Ser)
c.4651A>T (p.Thr1551Ser)
3g.38698284T>CCA352155071SCN10Ac.4936A>G (p.Thr1646Ala)
c.4933A>G (p.Thr1645Ala)
c.4960A>G (p.Thr1654Ala)
c.4642A>G (p.Thr1548Ala)
c.4945A>G (p.Thr1649Ala)
c.4942A>G (p.Thr1648Ala)
c.4651A>G (p.Thr1551Ala)
dbSNP
3g.38698284T>GCA352155069SCN10Ac.4936A>C (p.Thr1646Pro)
c.4933A>C (p.Thr1645Pro)
c.4960A>C (p.Thr1654Pro)
c.4642A>C (p.Thr1548Pro)
c.4945A>C (p.Thr1649Pro)
c.4942A>C (p.Thr1648Pro)
c.4651A>C (p.Thr1551Pro)
3g.38698284T=CA1358627821SCN10Ac.4936A= (p.Thr1646=)
c.4933A= (p.Thr1645=)
c.4960A= (p.Thr1654=)
c.4642A= (p.Thr1548=)
c.4945A= (p.Thr1649=)
c.4942A= (p.Thr1648=)
c.4651A= (p.Thr1551=)
3g.38698285C>ACA352155073SCN10Ac.4935G>T (p.Gln1645His)
c.4932G>T (p.Gln1644His)
c.4959G>T (p.Gln1653His)
c.4641G>T (p.Gln1547His)
c.4944G>T (p.Gln1648His)
c.4941G>T (p.Gln1647His)
c.4650G>T (p.Gln1550His)
3g.38698285C>GCA352155072SCN10Ac.4935G>C (p.Gln1645His)
c.4932G>C (p.Gln1644His)
c.4959G>C (p.Gln1653His)
c.4641G>C (p.Gln1547His)
c.4944G>C (p.Gln1648His)
c.4941G>C (p.Gln1647His)
c.4650G>C (p.Gln1550His)
3g.38698285C>TCA433334018SCN10Ac.4935G>A (p.Gln1645=)
c.4932G>A (p.Gln1644=)
c.4959G>A (p.Gln1653=)
c.4641G>A (p.Gln1547=)
c.4944G>A (p.Gln1648=)
c.4941G>A (p.Gln1647=)
c.4650G>A (p.Gln1550=)
3g.38698286T>ACA352155074SCN10Ac.4934A>T (p.Gln1645Leu)
c.4931A>T (p.Gln1644Leu)
c.4958A>T (p.Gln1653Leu)
c.4640A>T (p.Gln1547Leu)
c.4943A>T (p.Gln1648Leu)
c.4940A>T (p.Gln1647Leu)
c.4649A>T (p.Gln1550Leu)
3g.38698286T>CCA352155075SCN10Ac.4934A>G (p.Gln1645Arg)
c.4931A>G (p.Gln1644Arg)
c.4958A>G (p.Gln1653Arg)
c.4640A>G (p.Gln1547Arg)
c.4943A>G (p.Gln1648Arg)
c.4940A>G (p.Gln1647Arg)
c.4649A>G (p.Gln1550Arg)
3g.38698286T>GCA352155076SCN10Ac.4934A>C (p.Gln1645Pro)
c.4931A>C (p.Gln1644Pro)
c.4958A>C (p.Gln1653Pro)
c.4640A>C (p.Gln1547Pro)
c.4943A>C (p.Gln1648Pro)
c.4940A>C (p.Gln1647Pro)
c.4649A>C (p.Gln1550Pro)
3g.38698287G>ACA352155077SCN10Ac.4933C>T (p.Gln1645Ter)
c.4930C>T (p.Gln1644Ter)
c.4957C>T (p.Gln1653Ter)
c.4639C>T (p.Gln1547Ter)
c.4942C>T (p.Gln1648Ter)
c.4939C>T (p.Gln1647Ter)
c.4648C>T (p.Gln1550Ter)
gnomAD v4
3g.38698287G>CCA352155078SCN10Ac.4933C>G (p.Gln1645Glu)
c.4930C>G (p.Gln1644Glu)
c.4957C>G (p.Gln1653Glu)
c.4639C>G (p.Gln1547Glu)
c.4942C>G (p.Gln1648Glu)
c.4939C>G (p.Gln1647Glu)
c.4648C>G (p.Gln1550Glu)
3g.38698287G>TCA352155079SCN10Ac.4933C>A (p.Gln1645Lys)
c.4930C>A (p.Gln1644Lys)
c.4957C>A (p.Gln1653Lys)
c.4639C>A (p.Gln1547Lys)
c.4942C>A (p.Gln1648Lys)
c.4939C>A (p.Gln1647Lys)
c.4648C>A (p.Gln1550Lys)
3g.38698288G>ACA433334020SCN10Ac.4932C>T (p.Phe1644=)
c.4929C>T (p.Phe1643=)
c.4956C>T (p.Phe1652=)
c.4638C>T (p.Phe1546=)
c.4941C>T (p.Phe1647=)
c.4938C>T (p.Phe1646=)
c.4647C>T (p.Phe1549=)
3g.38698288G>CCA352155080SCN10Ac.4932C>G (p.Phe1644Leu)
c.4929C>G (p.Phe1643Leu)
c.4956C>G (p.Phe1652Leu)
c.4638C>G (p.Phe1546Leu)
c.4941C>G (p.Phe1647Leu)
c.4938C>G (p.Phe1646Leu)
c.4647C>G (p.Phe1549Leu)
ClinVar dbSNP
3g.38698288G=CA1358627822SCN10Ac.4932C= (p.Phe1644=)
c.4929C= (p.Phe1643=)
c.4956C= (p.Phe1652=)
c.4638C= (p.Phe1546=)
c.4941C= (p.Phe1647=)
c.4938C= (p.Phe1646=)
c.4647C= (p.Phe1549=)
3g.38698288G>TCA352155081SCN10Ac.4932C>A (p.Phe1644Leu)
c.4929C>A (p.Phe1643Leu)
c.4956C>A (p.Phe1652Leu)
c.4638C>A (p.Phe1546Leu)
c.4941C>A (p.Phe1647Leu)
c.4938C>A (p.Phe1646Leu)
c.4647C>A (p.Phe1549Leu)
3g.38698289A>CCA352155082SCN10Ac.4931T>G (p.Phe1644Cys)
c.4928T>G (p.Phe1643Cys)
c.4955T>G (p.Phe1652Cys)
c.4637T>G (p.Phe1546Cys)
c.4940T>G (p.Phe1647Cys)
c.4937T>G (p.Phe1646Cys)
c.4646T>G (p.Phe1549Cys)
3g.38698289A>GCA352155083SCN10Ac.4931T>C (p.Phe1644Ser)
c.4928T>C (p.Phe1643Ser)
c.4955T>C (p.Phe1652Ser)
c.4637T>C (p.Phe1546Ser)
c.4940T>C (p.Phe1647Ser)
c.4937T>C (p.Phe1646Ser)
c.4646T>C (p.Phe1549Ser)
3g.38698289A>TCA352155084SCN10Ac.4931T>A (p.Phe1644Tyr)
c.4928T>A (p.Phe1643Tyr)
c.4955T>A (p.Phe1652Tyr)
c.4637T>A (p.Phe1546Tyr)
c.4940T>A (p.Phe1647Tyr)
c.4937T>A (p.Phe1646Tyr)
c.4646T>A (p.Phe1549Tyr)
3g.38698290A>CCA352155086SCN10Ac.4930T>G (p.Phe1644Val)
c.4927T>G (p.Phe1643Val)
c.4954T>G (p.Phe1652Val)
c.4636T>G (p.Phe1546Val)
c.4939T>G (p.Phe1647Val)
c.4936T>G (p.Phe1646Val)
c.4645T>G (p.Phe1549Val)
3g.38698290A>GCA352155087SCN10Ac.4930T>C (p.Phe1644Leu)
c.4927T>C (p.Phe1643Leu)
c.4954T>C (p.Phe1652Leu)
c.4636T>C (p.Phe1546Leu)
c.4939T>C (p.Phe1647Leu)
c.4936T>C (p.Phe1646Leu)
c.4645T>C (p.Phe1549Leu)
3g.38698290A>TCA352155085SCN10Ac.4930T>A (p.Phe1644Ile)
c.4927T>A (p.Phe1643Ile)
c.4954T>A (p.Phe1652Ile)
c.4636T>A (p.Phe1546Ile)
c.4939T>A (p.Phe1647Ile)
c.4936T>A (p.Phe1646Ile)
c.4645T>A (p.Phe1549Ile)
3g.38698291G>ACA433334025SCN10Ac.4929C>T (p.Asn1643=)
c.4926C>T (p.Asn1642=)
c.4953C>T (p.Asn1651=)
c.4635C>T (p.Asn1545=)
c.4938C>T (p.Asn1646=)
c.4935C>T (p.Asn1645=)
c.4644C>T (p.Asn1548=)
gnomAD v4
3g.38698291G>CCA352155088SCN10Ac.4929C>G (p.Asn1643Lys)
c.4926C>G (p.Asn1642Lys)
c.4953C>G (p.Asn1651Lys)
c.4635C>G (p.Asn1545Lys)
c.4938C>G (p.Asn1646Lys)
c.4935C>G (p.Asn1645Lys)
c.4644C>G (p.Asn1548Lys)
3g.38698291G>TCA352155089SCN10Ac.4929C>A (p.Asn1643Lys)
c.4926C>A (p.Asn1642Lys)
c.4953C>A (p.Asn1651Lys)
c.4635C>A (p.Asn1545Lys)
c.4938C>A (p.Asn1646Lys)
c.4935C>A (p.Asn1645Lys)
c.4644C>A (p.Asn1548Lys)
3g.38698292T>ACA352155090SCN10Ac.4928A>T (p.Asn1643Ile)
c.4925A>T (p.Asn1642Ile)
c.4952A>T (p.Asn1651Ile)
c.4634A>T (p.Asn1545Ile)
c.4937A>T (p.Asn1646Ile)
c.4934A>T (p.Asn1645Ile)
c.4643A>T (p.Asn1548Ile)
3g.38698292T>CCA352155091SCN10Ac.4928A>G (p.Asn1643Ser)
c.4925A>G (p.Asn1642Ser)
c.4952A>G (p.Asn1651Ser)
c.4634A>G (p.Asn1545Ser)
c.4937A>G (p.Asn1646Ser)
c.4934A>G (p.Asn1645Ser)
c.4643A>G (p.Asn1548Ser)
dbSNP
3g.38698292T>GCA352155092SCN10Ac.4928A>C (p.Asn1643Thr)
c.4925A>C (p.Asn1642Thr)
c.4952A>C (p.Asn1651Thr)
c.4634A>C (p.Asn1545Thr)
c.4937A>C (p.Asn1646Thr)
c.4934A>C (p.Asn1645Thr)
c.4643A>C (p.Asn1548Thr)
3g.38698292T=CA1358627823SCN10Ac.4928A= (p.Asn1643=)
c.4925A= (p.Asn1642=)
c.4952A= (p.Asn1651=)
c.4634A= (p.Asn1545=)
c.4937A= (p.Asn1646=)
c.4934A= (p.Asn1645=)
c.4643A= (p.Asn1548=)
3g.38698293T>ACA352155095SCN10Ac.4927A>T (p.Asn1643Tyr)
c.4924A>T (p.Asn1642Tyr)
c.4951A>T (p.Asn1651Tyr)
c.4633A>T (p.Asn1545Tyr)
c.4936A>T (p.Asn1646Tyr)
c.4933A>T (p.Asn1645Tyr)
c.4642A>T (p.Asn1548Tyr)
3g.38698293T>CCA352155093SCN10Ac.4927A>G (p.Asn1643Asp)
c.4924A>G (p.Asn1642Asp)
c.4951A>G (p.Asn1651Asp)
c.4633A>G (p.Asn1545Asp)
c.4936A>G (p.Asn1646Asp)
c.4933A>G (p.Asn1645Asp)
c.4642A>G (p.Asn1548Asp)
3g.38698293T>GCA352155094SCN10Ac.4927A>C (p.Asn1643His)
c.4924A>C (p.Asn1642His)
c.4951A>C (p.Asn1651His)
c.4633A>C (p.Asn1545His)
c.4936A>C (p.Asn1646His)
c.4933A>C (p.Asn1645His)
c.4642A>C (p.Asn1548His)
3g.38698294G>ACA433334029SCN10Ac.4926C>T (p.Phe1642=)
c.4923C>T (p.Phe1641=)
c.4950C>T (p.Phe1650=)
c.4632C>T (p.Phe1544=)
c.4935C>T (p.Phe1645=)
c.4932C>T (p.Phe1644=)
c.4641C>T (p.Phe1547=)
3g.38698294G>CCA352155096SCN10Ac.4926C>G (p.Phe1642Leu)
c.4923C>G (p.Phe1641Leu)
c.4950C>G (p.Phe1650Leu)
c.4632C>G (p.Phe1544Leu)
c.4935C>G (p.Phe1645Leu)
c.4932C>G (p.Phe1644Leu)
c.4641C>G (p.Phe1547Leu)
3g.38698294G>TCA352155097SCN10Ac.4926C>A (p.Phe1642Leu)
c.4923C>A (p.Phe1641Leu)
c.4950C>A (p.Phe1650Leu)
c.4632C>A (p.Phe1544Leu)
c.4935C>A (p.Phe1645Leu)
c.4932C>A (p.Phe1644Leu)
c.4641C>A (p.Phe1547Leu)
3g.38698295A>CCA352155098SCN10Ac.4925T>G (p.Phe1642Cys)
c.4922T>G (p.Phe1641Cys)
c.4949T>G (p.Phe1650Cys)
c.4631T>G (p.Phe1544Cys)
c.4934T>G (p.Phe1645Cys)
c.4931T>G (p.Phe1644Cys)
c.4640T>G (p.Phe1547Cys)
3g.38698295A>GCA352155099SCN10Ac.4925T>C (p.Phe1642Ser)
c.4922T>C (p.Phe1641Ser)
c.4949T>C (p.Phe1650Ser)
c.4631T>C (p.Phe1544Ser)
c.4934T>C (p.Phe1645Ser)
c.4931T>C (p.Phe1644Ser)
c.4640T>C (p.Phe1547Ser)
3g.38698295A>TCA352155100SCN10Ac.4925T>A (p.Phe1642Tyr)
c.4922T>A (p.Phe1641Tyr)
c.4949T>A (p.Phe1650Tyr)
c.4631T>A (p.Phe1544Tyr)
c.4934T>A (p.Phe1645Tyr)
c.4931T>A (p.Phe1644Tyr)
c.4640T>A (p.Phe1547Tyr)
3g.38698295_38698297delinsAACCA1358627824SCN10Ac.4923_4925delinsGTT (p.Met1641=)
c.4920_4922delinsGTT (p.Met1640=)
c.4947_4949delinsGTT (p.Met1649=)
c.4629_4631delinsGTT (p.Met1543=)
c.4932_4934delinsGTT (p.Met1644=)
c.4929_4931delinsGTT (p.Met1643=)
c.4638_4640delinsGTT (p.Met1546=)
3g.38698296A>CCA352155102SCN10Ac.4924T>G (p.Phe1642Val)
c.4921T>G (p.Phe1641Val)
c.4948T>G (p.Phe1650Val)
c.4630T>G (p.Phe1544Val)
c.4933T>G (p.Phe1645Val)
c.4930T>G (p.Phe1644Val)
c.4639T>G (p.Phe1547Val)
3g.38698296A>GCA352155101SCN10Ac.4924T>C (p.Phe1642Leu)
c.4921T>C (p.Phe1641Leu)
c.4948T>C (p.Phe1650Leu)
c.4630T>C (p.Phe1544Leu)
c.4933T>C (p.Phe1645Leu)
c.4930T>C (p.Phe1644Leu)
c.4639T>C (p.Phe1547Leu)
gnomAD v4
3g.38698296A>TCA352155103SCN10Ac.4924T>A (p.Phe1642Ile)
c.4921T>A (p.Phe1641Ile)
c.4948T>A (p.Phe1650Ile)
c.4630T>A (p.Phe1544Ile)
c.4933T>A (p.Phe1645Ile)
c.4930T>A (p.Phe1644Ile)
c.4639T>A (p.Phe1547Ile)
3g.38698297_38698298delCA2319776SCN10Ac.4923_4924del (p.Met1641IlefsTer?)
c.4920_4921del (p.Met1640IlefsTer?)
c.4947_4948del (p.Met1649IlefsTer?)
c.4629_4630del (p.Met1543IlefsTer?)
c.4932_4933del (p.Met1644IlefsTer?)
c.4929_4930del (p.Met1643IlefsTer?)
c.4638_4639del (p.Met1546IlefsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698297C>ACA352155105SCN10Ac.4923G>T (p.Met1641Ile)
c.4920G>T (p.Met1640Ile)
c.4947G>T (p.Met1649Ile)
c.4629G>T (p.Met1543Ile)
c.4932G>T (p.Met1644Ile)
c.4929G>T (p.Met1643Ile)
c.4638G>T (p.Met1546Ile)
gnomAD v4
3g.38698297C=CA1358627825SCN10Ac.4923G= (p.Met1641=)
c.4920G= (p.Met1640=)
c.4947G= (p.Met1649=)
c.4629G= (p.Met1543=)
c.4932G= (p.Met1644=)
c.4929G= (p.Met1643=)
c.4638G= (p.Met1546=)
3g.38698297C>GCA352155107SCN10Ac.4923G>C (p.Met1641Ile)
c.4920G>C (p.Met1640Ile)
c.4947G>C (p.Met1649Ile)
c.4629G>C (p.Met1543Ile)
c.4932G>C (p.Met1644Ile)
c.4929G>C (p.Met1643Ile)
c.4638G>C (p.Met1546Ile)
3g.38698297C>TCA72947357SCN10Ac.4923G>A (p.Met1641Ile)
c.4920G>A (p.Met1640Ile)
c.4947G>A (p.Met1649Ile)
c.4629G>A (p.Met1543Ile)
c.4932G>A (p.Met1644Ile)
c.4929G>A (p.Met1643Ile)
c.4638G>A (p.Met1546Ile)
dbSNP
3g.38698298A>CCA352155109SCN10Ac.4922T>G (p.Met1641Arg)
c.4919T>G (p.Met1640Arg)
c.4946T>G (p.Met1649Arg)
c.4628T>G (p.Met1543Arg)
c.4931T>G (p.Met1644Arg)
c.4928T>G (p.Met1643Arg)
c.4637T>G (p.Met1546Arg)
3g.38698298A>GCA352155111SCN10Ac.4922T>C (p.Met1641Thr)
c.4919T>C (p.Met1640Thr)
c.4946T>C (p.Met1649Thr)
c.4628T>C (p.Met1543Thr)
c.4931T>C (p.Met1644Thr)
c.4928T>C (p.Met1643Thr)
c.4637T>C (p.Met1546Thr)
gnomAD v4
3g.38698298A>TCA352155113SCN10Ac.4922T>A (p.Met1641Lys)
c.4919T>A (p.Met1640Lys)
c.4946T>A (p.Met1649Lys)
c.4628T>A (p.Met1543Lys)
c.4931T>A (p.Met1644Lys)
c.4928T>A (p.Met1643Lys)
c.4637T>A (p.Met1546Lys)
3g.38698299T>ACA352155117SCN10Ac.4921A>T (p.Met1641Leu)
c.4918A>T (p.Met1640Leu)
c.4945A>T (p.Met1649Leu)
c.4627A>T (p.Met1543Leu)
c.4930A>T (p.Met1644Leu)
c.4927A>T (p.Met1643Leu)
c.4636A>T (p.Met1546Leu)
3g.38698299T>CCA72947359SCN10Ac.4921A>G (p.Met1641Val)
c.4918A>G (p.Met1640Val)
c.4945A>G (p.Met1649Val)
c.4627A>G (p.Met1543Val)
c.4930A>G (p.Met1644Val)
c.4927A>G (p.Met1643Val)
c.4636A>G (p.Met1546Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38698299T>GCA352155115SCN10Ac.4921A>C (p.Met1641Leu)
c.4918A>C (p.Met1640Leu)
c.4945A>C (p.Met1649Leu)
c.4627A>C (p.Met1543Leu)
c.4930A>C (p.Met1644Leu)
c.4927A>C (p.Met1643Leu)
c.4636A>C (p.Met1546Leu)
3g.38698299T=CA1358627826SCN10Ac.4921A= (p.Met1641=)
c.4918A= (p.Met1640=)
c.4945A= (p.Met1649=)
c.4627A= (p.Met1543=)
c.4930A= (p.Met1644=)
c.4927A= (p.Met1643=)
c.4636A= (p.Met1546=)
3g.38698300G>ACA433334035SCN10Ac.4920C>T (p.Asp1640=)
c.4917C>T (p.Asp1639=)
c.4944C>T (p.Asp1648=)
c.4626C>T (p.Asp1542=)
c.4929C>T (p.Asp1643=)
c.4926C>T (p.Asp1642=)
c.4635C>T (p.Asp1545=)
dbSNP
3g.38698300G>CCA352155119SCN10Ac.4920C>G (p.Asp1640Glu)
c.4917C>G (p.Asp1639Glu)
c.4944C>G (p.Asp1648Glu)
c.4626C>G (p.Asp1542Glu)
c.4929C>G (p.Asp1643Glu)
c.4926C>G (p.Asp1642Glu)
c.4635C>G (p.Asp1545Glu)
3g.38698300G=CA1358627827SCN10Ac.4920C= (p.Asp1640=)
c.4917C= (p.Asp1639=)
c.4944C= (p.Asp1648=)
c.4626C= (p.Asp1542=)
c.4929C= (p.Asp1643=)
c.4926C= (p.Asp1642=)
c.4635C= (p.Asp1545=)
3g.38698300G>TCA352155121SCN10Ac.4920C>A (p.Asp1640Glu)
c.4917C>A (p.Asp1639Glu)
c.4944C>A (p.Asp1648Glu)
c.4626C>A (p.Asp1542Glu)
c.4929C>A (p.Asp1643Glu)
c.4926C>A (p.Asp1642Glu)
c.4635C>A (p.Asp1545Glu)
3g.38698304_38698306dupCA906911491SCN10Ac.4918_4920dup (p.Asp1640_Met1641insAsp)
c.4915_4917dup (p.Asp1639_Met1640insAsp)
c.4942_4944dup (p.Asp1648_Met1649insAsp)
c.4624_4626dup (p.Asp1542_Met1543insAsp)
c.4927_4929dup (p.Asp1643_Met1644insAsp)
c.4924_4926dup (p.Asp1642_Met1643insAsp)
c.4633_4635dup (p.Asp1545_Met1546insAsp)
dbSNP gnomAD v3 gnomAD v4
3g.38698301T>ACA352155123SCN10Ac.4919A>T (p.Asp1640Val)
c.4916A>T (p.Asp1639Val)
c.4943A>T (p.Asp1648Val)
c.4625A>T (p.Asp1542Val)
c.4928A>T (p.Asp1643Val)
c.4925A>T (p.Asp1642Val)
c.4634A>T (p.Asp1545Val)
3g.38698301T>CCA352155125SCN10Ac.4919A>G (p.Asp1640Gly)
c.4916A>G (p.Asp1639Gly)
c.4943A>G (p.Asp1648Gly)
c.4625A>G (p.Asp1542Gly)
c.4928A>G (p.Asp1643Gly)
c.4925A>G (p.Asp1642Gly)
c.4634A>G (p.Asp1545Gly)
dbSNP gnomAD v4
3g.38698301T>GCA352155126SCN10Ac.4919A>C (p.Asp1640Ala)
c.4916A>C (p.Asp1639Ala)
c.4943A>C (p.Asp1648Ala)
c.4625A>C (p.Asp1542Ala)
c.4928A>C (p.Asp1643Ala)
c.4925A>C (p.Asp1642Ala)
c.4634A>C (p.Asp1545Ala)
3g.38698301T=CA1358627828SCN10Ac.4919A= (p.Asp1640=)
c.4916A= (p.Asp1639=)
c.4943A= (p.Asp1648=)
c.4625A= (p.Asp1542=)
c.4928A= (p.Asp1643=)
c.4925A= (p.Asp1642=)
c.4634A= (p.Asp1545=)
3g.38698302C>ACA352155128SCN10Ac.4918G>T (p.Asp1640Tyr)
c.4915G>T (p.Asp1639Tyr)
c.4942G>T (p.Asp1648Tyr)
c.4624G>T (p.Asp1542Tyr)
c.4927G>T (p.Asp1643Tyr)
c.4924G>T (p.Asp1642Tyr)
c.4633G>T (p.Asp1545Tyr)
3g.38698302C=CA1358627829SCN10Ac.4918G= (p.Asp1640=)
c.4915G= (p.Asp1639=)
c.4942G= (p.Asp1648=)
c.4624G= (p.Asp1542=)
c.4927G= (p.Asp1643=)
c.4924G= (p.Asp1642=)
c.4633G= (p.Asp1545=)
3g.38698302C>GCA352155130SCN10Ac.4918G>C (p.Asp1640His)
c.4915G>C (p.Asp1639His)
c.4942G>C (p.Asp1648His)
c.4624G>C (p.Asp1542His)
c.4927G>C (p.Asp1643His)
c.4924G>C (p.Asp1642His)
c.4633G>C (p.Asp1545His)
3g.38698302C>TCA2319777SCN10Ac.4918G>A (p.Asp1640Asn)
c.4915G>A (p.Asp1639Asn)
c.4942G>A (p.Asp1648Asn)
c.4624G>A (p.Asp1542Asn)
c.4927G>A (p.Asp1643Asn)
c.4924G>A (p.Asp1642Asn)
c.4633G>A (p.Asp1545Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698303G>ACA2319778SCN10Ac.4917C>T (p.Asp1639=)
c.4914C>T (p.Asp1638=)
c.4941C>T (p.Asp1647=)
c.4623C>T (p.Asp1541=)
c.4926C>T (p.Asp1642=)
c.4923C>T (p.Asp1641=)
c.4632C>T (p.Asp1544=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38698303G>CCA352155133SCN10Ac.4917C>G (p.Asp1639Glu)
c.4914C>G (p.Asp1638Glu)
c.4941C>G (p.Asp1647Glu)
c.4623C>G (p.Asp1541Glu)
c.4926C>G (p.Asp1642Glu)
c.4923C>G (p.Asp1641Glu)
c.4632C>G (p.Asp1544Glu)
3g.38698303G=CA1358627830SCN10Ac.4917C= (p.Asp1639=)
c.4914C= (p.Asp1638=)
c.4941C= (p.Asp1647=)
c.4623C= (p.Asp1541=)
c.4926C= (p.Asp1642=)
c.4923C= (p.Asp1641=)
c.4632C= (p.Asp1544=)
3g.38698303G>TCA352155135SCN10Ac.4917C>A (p.Asp1639Glu)
c.4914C>A (p.Asp1638Glu)
c.4941C>A (p.Asp1647Glu)
c.4623C>A (p.Asp1541Glu)
c.4926C>A (p.Asp1642Glu)
c.4923C>A (p.Asp1641Glu)
c.4632C>A (p.Asp1544Glu)
3g.38698304T>ACA352155137SCN10Ac.4916A>T (p.Asp1639Val)
c.4913A>T (p.Asp1638Val)
c.4940A>T (p.Asp1647Val)
c.4622A>T (p.Asp1541Val)
c.4925A>T (p.Asp1642Val)
c.4922A>T (p.Asp1641Val)
c.4631A>T (p.Asp1544Val)
3g.38698304T>CCA352155139SCN10Ac.4916A>G (p.Asp1639Gly)
c.4913A>G (p.Asp1638Gly)
c.4940A>G (p.Asp1647Gly)
c.4622A>G (p.Asp1541Gly)
c.4925A>G (p.Asp1642Gly)
c.4922A>G (p.Asp1641Gly)
c.4631A>G (p.Asp1544Gly)
3g.38698304T>GCA352155140SCN10Ac.4916A>C (p.Asp1639Ala)
c.4913A>C (p.Asp1638Ala)
c.4940A>C (p.Asp1647Ala)
c.4622A>C (p.Asp1541Ala)
c.4925A>C (p.Asp1642Ala)
c.4922A>C (p.Asp1641Ala)
c.4631A>C (p.Asp1544Ala)
3g.38698305C>ACA352155142SCN10Ac.4915G>T (p.Asp1639Tyr)
c.4912G>T (p.Asp1638Tyr)
c.4939G>T (p.Asp1647Tyr)
c.4621G>T (p.Asp1541Tyr)
c.4924G>T (p.Asp1642Tyr)
c.4921G>T (p.Asp1641Tyr)
c.4630G>T (p.Asp1544Tyr)
3g.38698305C=CA1358627831SCN10Ac.4915G= (p.Asp1639=)
c.4912G= (p.Asp1638=)
c.4939G= (p.Asp1647=)
c.4621G= (p.Asp1541=)
c.4924G= (p.Asp1642=)
c.4921G= (p.Asp1641=)
c.4630G= (p.Asp1544=)
3g.38698305C>GCA352155144SCN10Ac.4915G>C (p.Asp1639His)
c.4912G>C (p.Asp1638His)
c.4939G>C (p.Asp1647His)
c.4621G>C (p.Asp1541His)
c.4924G>C (p.Asp1642His)
c.4921G>C (p.Asp1641His)
c.4630G>C (p.Asp1544His)
3g.38698305C>TCA2319779SCN10Ac.4915G>A (p.Asp1639Asn)
c.4912G>A (p.Asp1638Asn)
c.4939G>A (p.Asp1647Asn)
c.4621G>A (p.Asp1541Asn)
c.4924G>A (p.Asp1642Asn)
c.4921G>A (p.Asp1641Asn)
c.4630G>A (p.Asp1544Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698306G>ACA2319780SCN10Ac.4914C>T (p.Ile1638=)
c.4911C>T (p.Ile1637=)
c.4938C>T (p.Ile1646=)
c.4620C>T (p.Ile1540=)
c.4923C>T (p.Ile1641=)
c.4920C>T (p.Ile1640=)
c.4629C>T (p.Ile1543=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.38698306G>CCA352155147SCN10Ac.4914C>G (p.Ile1638Met)
c.4911C>G (p.Ile1637Met)
c.4938C>G (p.Ile1646Met)
c.4620C>G (p.Ile1540Met)
c.4923C>G (p.Ile1641Met)
c.4920C>G (p.Ile1640Met)
c.4629C>G (p.Ile1543Met)
gnomAD v4
3g.38698306G=CA1358627832SCN10Ac.4914C= (p.Ile1638=)
c.4911C= (p.Ile1637=)
c.4938C= (p.Ile1646=)
c.4620C= (p.Ile1540=)
c.4923C= (p.Ile1641=)
c.4920C= (p.Ile1640=)
c.4629C= (p.Ile1543=)
3g.38698306G>TCA433334043SCN10Ac.4914C>A (p.Ile1638=)
c.4911C>A (p.Ile1637=)
c.4938C>A (p.Ile1646=)
c.4620C>A (p.Ile1540=)
c.4923C>A (p.Ile1641=)
c.4920C>A (p.Ile1640=)
c.4629C>A (p.Ile1543=)
3g.38698307A>CCA352155152SCN10Ac.4913T>G (p.Ile1638Ser)
c.4910T>G (p.Ile1637Ser)
c.4937T>G (p.Ile1646Ser)
c.4619T>G (p.Ile1540Ser)
c.4922T>G (p.Ile1641Ser)
c.4919T>G (p.Ile1640Ser)
c.4628T>G (p.Ile1543Ser)
3g.38698307A>GCA352155150SCN10Ac.4913T>C (p.Ile1638Thr)
c.4910T>C (p.Ile1637Thr)
c.4937T>C (p.Ile1646Thr)
c.4619T>C (p.Ile1540Thr)
c.4922T>C (p.Ile1641Thr)
c.4919T>C (p.Ile1640Thr)
c.4628T>C (p.Ile1543Thr)
gnomAD v4
3g.38698307A>TCA352155148SCN10Ac.4913T>A (p.Ile1638Asn)
c.4910T>A (p.Ile1637Asn)
c.4937T>A (p.Ile1646Asn)
c.4619T>A (p.Ile1540Asn)
c.4922T>A (p.Ile1641Asn)
c.4919T>A (p.Ile1640Asn)
c.4628T>A (p.Ile1543Asn)
3g.38698308T>ACA352155154SCN10Ac.4912A>T (p.Ile1638Phe)
c.4909A>T (p.Ile1637Phe)
c.4936A>T (p.Ile1646Phe)
c.4618A>T (p.Ile1540Phe)
c.4921A>T (p.Ile1641Phe)
c.4918A>T (p.Ile1640Phe)
c.4627A>T (p.Ile1543Phe)
3g.38698308T>CCA352155157SCN10Ac.4912A>G (p.Ile1638Val)
c.4909A>G (p.Ile1637Val)
c.4936A>G (p.Ile1646Val)
c.4618A>G (p.Ile1540Val)
c.4921A>G (p.Ile1641Val)
c.4918A>G (p.Ile1640Val)
c.4627A>G (p.Ile1543Val)
3g.38698308T>GCA352155156SCN10Ac.4912A>C (p.Ile1638Leu)
c.4909A>C (p.Ile1637Leu)
c.4936A>C (p.Ile1646Leu)
c.4618A>C (p.Ile1540Leu)
c.4921A>C (p.Ile1641Leu)
c.4918A>C (p.Ile1640Leu)
c.4627A>C (p.Ile1543Leu)
dbSNP gnomAD v2 gnomAD v4
3g.38698308T=CA1358627833SCN10Ac.4912A= (p.Ile1638=)
c.4909A= (p.Ile1637=)
c.4936A= (p.Ile1646=)
c.4618A= (p.Ile1540=)
c.4921A= (p.Ile1641=)
c.4918A= (p.Ile1640=)
c.4627A= (p.Ile1543=)
3g.38698309G>ACA433334050SCN10Ac.4911C>T (p.Gly1637=)
c.4908C>T (p.Gly1636=)
c.4935C>T (p.Gly1645=)
c.4617C>T (p.Gly1539=)
c.4920C>T (p.Gly1640=)
c.4917C>T (p.Gly1639=)
c.4626C>T (p.Gly1542=)
3g.38698309G>CCA433334051SCN10Ac.4911C>G (p.Gly1637=)
c.4908C>G (p.Gly1636=)
c.4935C>G (p.Gly1645=)
c.4617C>G (p.Gly1539=)
c.4920C>G (p.Gly1640=)
c.4917C>G (p.Gly1639=)
c.4626C>G (p.Gly1542=)
3g.38698309G>TCA433334052SCN10Ac.4911C>A (p.Gly1637=)
c.4908C>A (p.Gly1636=)
c.4935C>A (p.Gly1645=)
c.4617C>A (p.Gly1539=)
c.4920C>A (p.Gly1640=)
c.4917C>A (p.Gly1639=)
c.4626C>A (p.Gly1542=)
3g.38698310C>ACA2319781SCN10Ac.4910G>T (p.Gly1637Val)
c.4907G>T (p.Gly1636Val)
c.4934G>T (p.Gly1645Val)
c.4616G>T (p.Gly1539Val)
c.4919G>T (p.Gly1640Val)
c.4916G>T (p.Gly1639Val)
c.4625G>T (p.Gly1542Val)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38698310C=CA1358627834SCN10Ac.4910G= (p.Gly1637=)
c.4907G= (p.Gly1636=)
c.4934G= (p.Gly1645=)
c.4616G= (p.Gly1539=)
c.4919G= (p.Gly1640=)
c.4916G= (p.Gly1639=)
c.4625G= (p.Gly1542=)
3g.38698310C>GCA2319782SCN10Ac.4910G>C (p.Gly1637Ala)
c.4907G>C (p.Gly1636Ala)
c.4934G>C (p.Gly1645Ala)
c.4616G>C (p.Gly1539Ala)
c.4919G>C (p.Gly1640Ala)
c.4916G>C (p.Gly1639Ala)
c.4625G>C (p.Gly1542Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.38698310C>TCA352155159SCN10Ac.4910G>A (p.Gly1637Asp)
c.4907G>A (p.Gly1636Asp)
c.4934G>A (p.Gly1645Asp)
c.4616G>A (p.Gly1539Asp)
c.4919G>A (p.Gly1640Asp)
c.4916G>A (p.Gly1639Asp)
c.4625G>A (p.Gly1542Asp)
gnomAD v4
3g.38698311C>ACA352155162SCN10Ac.4909G>T (p.Gly1637Cys)
c.4906G>T (p.Gly1636Cys)
c.4933G>T (p.Gly1645Cys)
c.4615G>T (p.Gly1539Cys)
c.4918G>T (p.Gly1640Cys)
c.4915G>T (p.Gly1639Cys)
c.4624G>T (p.Gly1542Cys)
3g.38698311C>GCA352155166SCN10Ac.4909G>C (p.Gly1637Arg)
c.4906G>C (p.Gly1636Arg)
c.4933G>C (p.Gly1645Arg)
c.4615G>C (p.Gly1539Arg)
c.4918G>C (p.Gly1640Arg)
c.4915G>C (p.Gly1639Arg)
c.4624G>C (p.Gly1542Arg)
3g.38698311C>TCA352155164SCN10Ac.4909G>A (p.Gly1637Ser)
c.4906G>A (p.Gly1636Ser)
c.4933G>A (p.Gly1645Ser)
c.4615G>A (p.Gly1539Ser)
c.4918G>A (p.Gly1640Ser)
c.4915G>A (p.Gly1639Ser)
c.4624G>A (p.Gly1542Ser)
3g.38698312A>CCA433334057SCN10Ac.4908T>G (p.Ala1636=)
c.4905T>G (p.Ala1635=)
c.4932T>G (p.Ala1644=)
c.4614T>G (p.Ala1538=)
c.4917T>G (p.Ala1639=)
c.4914T>G (p.Ala1638=)
c.4623T>G (p.Ala1541=)
3g.38698312A>GCA433334059SCN10Ac.4908T>C (p.Ala1636=)
c.4905T>C (p.Ala1635=)
c.4932T>C (p.Ala1644=)
c.4614T>C (p.Ala1538=)
c.4917T>C (p.Ala1639=)
c.4914T>C (p.Ala1638=)
c.4623T>C (p.Ala1541=)
3g.38698312A>TCA433334055SCN10Ac.4908T>A (p.Ala1636=)
c.4905T>A (p.Ala1635=)
c.4932T>A (p.Ala1644=)
c.4614T>A (p.Ala1538=)
c.4917T>A (p.Ala1639=)
c.4914T>A (p.Ala1638=)
c.4623T>A (p.Ala1541=)
3g.38698313G>ACA352155168SCN10Ac.4907C>T (p.Ala1636Val)
c.4904C>T (p.Ala1635Val)
c.4931C>T (p.Ala1644Val)
c.4613C>T (p.Ala1538Val)
c.4916C>T (p.Ala1639Val)
c.4913C>T (p.Ala1638Val)
c.4622C>T (p.Ala1541Val)
3g.38698313G>CCA352155170SCN10Ac.4907C>G (p.Ala1636Gly)
c.4904C>G (p.Ala1635Gly)
c.4931C>G (p.Ala1644Gly)
c.4613C>G (p.Ala1538Gly)
c.4916C>G (p.Ala1639Gly)
c.4913C>G (p.Ala1638Gly)
c.4622C>G (p.Ala1541Gly)
3g.38698313G>TCA352155172SCN10Ac.4907C>A (p.Ala1636Asp)
c.4904C>A (p.Ala1635Asp)
c.4931C>A (p.Ala1644Asp)
c.4613C>A (p.Ala1538Asp)
c.4916C>A (p.Ala1639Asp)
c.4913C>A (p.Ala1638Asp)
c.4622C>A (p.Ala1541Asp)
3g.38698314C>ACA352155175SCN10Ac.4906G>T (p.Ala1636Ser)
c.4903G>T (p.Ala1635Ser)
c.4930G>T (p.Ala1644Ser)
c.4612G>T (p.Ala1538Ser)
c.4915G>T (p.Ala1639Ser)
c.4912G>T (p.Ala1638Ser)
c.4621G>T (p.Ala1541Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38698314C=CA1358627835SCN10Ac.4906G= (p.Ala1636=)
c.4903G= (p.Ala1635=)
c.4930G= (p.Ala1644=)
c.4612G= (p.Ala1538=)
c.4915G= (p.Ala1639=)
c.4912G= (p.Ala1638=)
c.4621G= (p.Ala1541=)
3g.38698314C>GCA352155177SCN10Ac.4906G>C (p.Ala1636Pro)
c.4903G>C (p.Ala1635Pro)
c.4930G>C (p.Ala1644Pro)
c.4612G>C (p.Ala1538Pro)
c.4915G>C (p.Ala1639Pro)
c.4912G>C (p.Ala1638Pro)
c.4621G>C (p.Ala1541Pro)
3g.38698314C>TCA352155178SCN10Ac.4906G>A (p.Ala1636Thr)
c.4903G>A (p.Ala1635Thr)
c.4930G>A (p.Ala1644Thr)
c.4612G>A (p.Ala1538Thr)
c.4915G>A (p.Ala1639Thr)
c.4912G>A (p.Ala1638Thr)
c.4621G>A (p.Ala1541Thr)
3g.38698315C>ACA352155182SCN10Ac.4905G>T (p.Glu1635Asp)
c.4902G>T (p.Glu1634Asp)
c.4929G>T (p.Glu1643Asp)
c.4611G>T (p.Glu1537Asp)
c.4914G>T (p.Glu1638Asp)
c.4911G>T (p.Glu1637Asp)
c.4620G>T (p.Glu1540Asp)
3g.38698315C>GCA352155180SCN10Ac.4905G>C (p.Glu1635Asp)
c.4902G>C (p.Glu1634Asp)
c.4929G>C (p.Glu1643Asp)
c.4611G>C (p.Glu1537Asp)
c.4914G>C (p.Glu1638Asp)
c.4911G>C (p.Glu1637Asp)
c.4620G>C (p.Glu1540Asp)
3g.38698315C>TCA433334062SCN10Ac.4905G>A (p.Glu1635=)
c.4902G>A (p.Glu1634=)
c.4929G>A (p.Glu1643=)
c.4611G>A (p.Glu1537=)
c.4914G>A (p.Glu1638=)
c.4911G>A (p.Glu1637=)
c.4620G>A (p.Glu1540=)
3g.38698316T>ACA352155184SCN10Ac.4904A>T (p.Glu1635Val)
c.4901A>T (p.Glu1634Val)
c.4928A>T (p.Glu1643Val)
c.4610A>T (p.Glu1537Val)
c.4913A>T (p.Glu1638Val)
c.4910A>T (p.Glu1637Val)
c.4619A>T (p.Glu1540Val)
3g.38698316T>CCA352155185SCN10Ac.4904A>G (p.Glu1635Gly)
c.4901A>G (p.Glu1634Gly)
c.4928A>G (p.Glu1643Gly)
c.4610A>G (p.Glu1537Gly)
c.4913A>G (p.Glu1638Gly)
c.4910A>G (p.Glu1637Gly)
c.4619A>G (p.Glu1540Gly)
3g.38698316T>GCA352155187SCN10Ac.4904A>C (p.Glu1635Ala)
c.4901A>C (p.Glu1634Ala)
c.4928A>C (p.Glu1643Ala)
c.4610A>C (p.Glu1537Ala)
c.4913A>C (p.Glu1638Ala)
c.4910A>C (p.Glu1637Ala)
c.4619A>C (p.Glu1540Ala)
COSMIC
3g.38698317C>ACA352155189SCN10Ac.4903G>T (p.Glu1635Ter)
c.4900G>T (p.Glu1634Ter)
c.4927G>T (p.Glu1643Ter)
c.4609G>T (p.Glu1537Ter)
c.4912G>T (p.Glu1638Ter)
c.4909G>T (p.Glu1637Ter)
c.4618G>T (p.Glu1540Ter)
dbSNP gnomAD v4
3g.38698317C=CA1358627836SCN10Ac.4903G= (p.Glu1635=)
c.4900G= (p.Glu1634=)
c.4927G= (p.Glu1643=)
c.4609G= (p.Glu1537=)
c.4912G= (p.Glu1638=)
c.4909G= (p.Glu1637=)
c.4618G= (p.Glu1540=)
3g.38698317C>GCA352155191SCN10Ac.4903G>C (p.Glu1635Gln)
c.4900G>C (p.Glu1634Gln)
c.4927G>C (p.Glu1643Gln)
c.4609G>C (p.Glu1537Gln)
c.4912G>C (p.Glu1638Gln)
c.4909G>C (p.Glu1637Gln)
c.4618G>C (p.Glu1540Gln)
3g.38698317C>TCA352155192SCN10Ac.4903G>A (p.Glu1635Lys)
c.4900G>A (p.Glu1634Lys)
c.4927G>A (p.Glu1643Lys)
c.4609G>A (p.Glu1537Lys)
c.4912G>A (p.Glu1638Lys)
c.4909G>A (p.Glu1637Lys)
c.4618G>A (p.Glu1540Lys)
3g.38698319delCA2665119513SCN10Ac.4903del (p.Glu1635ArgfsTer?)
c.4900del (p.Glu1634ArgfsTer?)
c.4927del (p.Glu1643ArgfsTer?)
c.4609del (p.Glu1537ArgfsTer?)
c.4912del (p.Glu1638ArgfsTer?)
c.4909del (p.Glu1637ArgfsTer?)
c.4618del (p.Glu1540ArgfsTer?)
gnomAD v4
3g.38698318C>ACA352155197SCN10Ac.4902G>T (p.Trp1634Cys)
c.4899G>T (p.Trp1633Cys)
c.4926G>T (p.Trp1642Cys)
c.4608G>T (p.Trp1536Cys)
c.4911G>T (p.Trp1637Cys)
c.4908G>T (p.Trp1636Cys)
c.4617G>T (p.Trp1539Cys)
3g.38698318C>GCA352155195SCN10Ac.4902G>C (p.Trp1634Cys)
c.4899G>C (p.Trp1633Cys)
c.4926G>C (p.Trp1642Cys)
c.4608G>C (p.Trp1536Cys)
c.4911G>C (p.Trp1637Cys)
c.4908G>C (p.Trp1636Cys)
c.4617G>C (p.Trp1539Cys)
3g.38698318C>TCA352155196SCN10Ac.4902G>A (p.Trp1634Ter)
c.4899G>A (p.Trp1633Ter)
c.4926G>A (p.Trp1642Ter)
c.4608G>A (p.Trp1536Ter)
c.4911G>A (p.Trp1637Ter)
c.4908G>A (p.Trp1636Ter)
c.4617G>A (p.Trp1539Ter)
ClinVar dbSNP gnomAD v4
3g.38698319C>ACA352155198SCN10Ac.4901G>T (p.Trp1634Leu)
c.4898G>T (p.Trp1633Leu)
c.4925G>T (p.Trp1642Leu)
c.4607G>T (p.Trp1536Leu)
c.4910G>T (p.Trp1637Leu)
c.4907G>T (p.Trp1636Leu)
c.4616G>T (p.Trp1539Leu)
3g.38698319C>GCA352155200SCN10Ac.4901G>C (p.Trp1634Ser)
c.4898G>C (p.Trp1633Ser)
c.4925G>C (p.Trp1642Ser)
c.4607G>C (p.Trp1536Ser)
c.4910G>C (p.Trp1637Ser)
c.4907G>C (p.Trp1636Ser)
c.4616G>C (p.Trp1539Ser)
3g.38698319C>TCA352155201SCN10Ac.4901G>A (p.Trp1634Ter)
c.4898G>A (p.Trp1633Ter)
c.4925G>A (p.Trp1642Ter)
c.4607G>A (p.Trp1536Ter)
c.4910G>A (p.Trp1637Ter)
c.4907G>A (p.Trp1636Ter)
c.4616G>A (p.Trp1539Ter)
3g.38698320A=CA1358627837SCN10Ac.4900T= (p.Trp1634=)
c.4897T= (p.Trp1633=)
c.4924T= (p.Trp1642=)
c.4606T= (p.Trp1536=)
c.4909T= (p.Trp1637=)
c.4906T= (p.Trp1636=)
c.4615T= (p.Trp1539=)
3g.38698320A>CCA352155203SCN10Ac.4900T>G (p.Trp1634Gly)
c.4897T>G (p.Trp1633Gly)
c.4924T>G (p.Trp1642Gly)
c.4606T>G (p.Trp1536Gly)
c.4909T>G (p.Trp1637Gly)
c.4906T>G (p.Trp1636Gly)
c.4615T>G (p.Trp1539Gly)
3g.38698320A>GCA352155205SCN10Ac.4900T>C (p.Trp1634Arg)
c.4897T>C (p.Trp1633Arg)
c.4924T>C (p.Trp1642Arg)
c.4606T>C (p.Trp1536Arg)
c.4909T>C (p.Trp1637Arg)
c.4906T>C (p.Trp1636Arg)
c.4615T>C (p.Trp1539Arg)
dbSNP gnomAD v4
3g.38698320A>TCA352155207SCN10Ac.4900T>A (p.Trp1634Arg)
c.4897T>A (p.Trp1633Arg)
c.4924T>A (p.Trp1642Arg)
c.4606T>A (p.Trp1536Arg)
c.4909T>A (p.Trp1637Arg)
c.4906T>A (p.Trp1636Arg)
c.4615T>A (p.Trp1539Arg)
3g.38698321C>ACA352155208SCN10Ac.4899G>T (p.Arg1633Ser)
c.4896G>T (p.Arg1632Ser)
c.4923G>T (p.Arg1641Ser)
c.4605G>T (p.Arg1535Ser)
c.4908G>T (p.Arg1636Ser)
c.4905G>T (p.Arg1635Ser)
c.4614G>T (p.Arg1538Ser)
3g.38698321C>GCA352155209SCN10Ac.4899G>C (p.Arg1633Ser)
c.4896G>C (p.Arg1632Ser)
c.4923G>C (p.Arg1641Ser)
c.4605G>C (p.Arg1535Ser)
c.4908G>C (p.Arg1636Ser)
c.4905G>C (p.Arg1635Ser)
c.4614G>C (p.Arg1538Ser)
ClinVar
3g.38698321C>TCA433334066SCN10Ac.4899G>A (p.Arg1633=)
c.4896G>A (p.Arg1632=)
c.4923G>A (p.Arg1641=)
c.4605G>A (p.Arg1535=)
c.4908G>A (p.Arg1636=)
c.4905G>A (p.Arg1635=)
c.4614G>A (p.Arg1538=)
3g.38698322C>ACA352155211SCN10Ac.4898G>T (p.Arg1633Met)
c.4895G>T (p.Arg1632Met)
c.4922G>T (p.Arg1641Met)
c.4604G>T (p.Arg1535Met)
c.4907G>T (p.Arg1636Met)
c.4904G>T (p.Arg1635Met)
c.4613G>T (p.Arg1538Met)
3g.38698322C>GCA352155213SCN10Ac.4898G>C (p.Arg1633Thr)
c.4895G>C (p.Arg1632Thr)
c.4922G>C (p.Arg1641Thr)
c.4604G>C (p.Arg1535Thr)
c.4907G>C (p.Arg1636Thr)
c.4904G>C (p.Arg1635Thr)
c.4613G>C (p.Arg1538Thr)
3g.38698322C>TCA352155215SCN10Ac.4898G>A (p.Arg1633Lys)
c.4895G>A (p.Arg1632Lys)
c.4922G>A (p.Arg1641Lys)
c.4604G>A (p.Arg1535Lys)
c.4907G>A (p.Arg1636Lys)
c.4904G>A (p.Arg1635Lys)
c.4613G>A (p.Arg1538Lys)
dbSNP
3g.38698323T>ACA352155217SCN10Ac.4897A>T (p.Arg1633Trp)
c.4894A>T (p.Arg1632Trp)
c.4921A>T (p.Arg1641Trp)
c.4603A>T (p.Arg1535Trp)
c.4906A>T (p.Arg1636Trp)
c.4903A>T (p.Arg1635Trp)
c.4612A>T (p.Arg1538Trp)
3g.38698323T>CCA352155222SCN10Ac.4897A>G (p.Arg1633Gly)
c.4894A>G (p.Arg1632Gly)
c.4921A>G (p.Arg1641Gly)
c.4603A>G (p.Arg1535Gly)
c.4906A>G (p.Arg1636Gly)
c.4903A>G (p.Arg1635Gly)
c.4612A>G (p.Arg1538Gly)
3g.38698323T>GCA433334068SCN10Ac.4897A>C (p.Arg1633=)
c.4894A>C (p.Arg1632=)
c.4921A>C (p.Arg1641=)
c.4603A>C (p.Arg1535=)
c.4906A>C (p.Arg1636=)
c.4903A>C (p.Arg1635=)
c.4612A>C (p.Arg1538=)
3g.38698323_38698325delinsTCACA1358627838SCN10Ac.4895_4897delinsTGA (p.Val1632=)
c.4892_4894delinsTGA (p.Val1631=)
c.4919_4921delinsTGA (p.Val1640=)
c.4601_4603delinsTGA (p.Val1534=)
c.4904_4906delinsTGA (p.Val1635=)
c.4901_4903delinsTGA (p.Val1634=)
c.4610_4612delinsTGA (p.Val1537=)
3g.38698324C>ACA433334069SCN10Ac.4896G>T (p.Val1632=)
c.4893G>T (p.Val1631=)
c.4920G>T (p.Val1640=)
c.4602G>T (p.Val1534=)
c.4905G>T (p.Val1635=)
c.4902G>T (p.Val1634=)
c.4611G>T (p.Val1537=)
3g.38698324C=CA1358627839SCN10Ac.4896G= (p.Val1632=)
c.4893G= (p.Val1631=)
c.4920G= (p.Val1640=)
c.4602G= (p.Val1534=)
c.4905G= (p.Val1635=)
c.4902G= (p.Val1634=)
c.4611G= (p.Val1537=)
3g.38698324C>GCA433334070SCN10Ac.4896G>C (p.Val1632=)
c.4893G>C (p.Val1631=)
c.4920G>C (p.Val1640=)
c.4602G>C (p.Val1534=)
c.4905G>C (p.Val1635=)
c.4902G>C (p.Val1634=)
c.4611G>C (p.Val1537=)
3g.38698324C>TCA433334071SCN10Ac.4896G>A (p.Val1632=)
c.4893G>A (p.Val1631=)
c.4920G>A (p.Val1640=)
c.4602G>A (p.Val1534=)
c.4905G>A (p.Val1635=)
c.4902G>A (p.Val1634=)
c.4611G>A (p.Val1537=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.38698326_38698327delCA542615794SCN10Ac.4895_4896del (p.Val1632GlufsTer?)
c.4892_4893del (p.Val1631GlufsTer?)
c.4919_4920del (p.Val1640GlufsTer?)
c.4601_4602del (p.Val1534GlufsTer?)
c.4904_4905del (p.Val1635GlufsTer?)
c.4901_4902del (p.Val1634GlufsTer?)
c.4610_4611del (p.Val1537GlufsTer?)
dbSNP gnomAD v2
3g.38698325A=CA1358627840SCN10Ac.4895T= (p.Val1632=)
c.4892T= (p.Val1631=)
c.4919T= (p.Val1640=)
c.4601T= (p.Val1534=)
c.4904T= (p.Val1635=)
c.4901T= (p.Val1634=)
c.4610T= (p.Val1537=)
3g.38698325A>CCA352155228SCN10Ac.4895T>G (p.Val1632Gly)
c.4892T>G (p.Val1631Gly)
c.4919T>G (p.Val1640Gly)
c.4601T>G (p.Val1534Gly)
c.4904T>G (p.Val1635Gly)
c.4901T>G (p.Val1634Gly)
c.4610T>G (p.Val1537Gly)
dbSNP
3g.38698325A>GCA352155225SCN10Ac.4895T>C (p.Val1632Ala)
c.4892T>C (p.Val1631Ala)
c.4919T>C (p.Val1640Ala)
c.4601T>C (p.Val1534Ala)
c.4904T>C (p.Val1635Ala)
c.4901T>C (p.Val1634Ala)
c.4610T>C (p.Val1537Ala)
3g.38698325A>TCA352155226SCN10Ac.4895T>A (p.Val1632Glu)
c.4892T>A (p.Val1631Glu)
c.4919T>A (p.Val1640Glu)
c.4601T>A (p.Val1534Glu)
c.4904T>A (p.Val1635Glu)
c.4901T>A (p.Val1634Glu)
c.4610T>A (p.Val1537Glu)
3g.38698326C>ACA352155229SCN10Ac.4894G>T (p.Val1632Leu)
c.4891G>T (p.Val1631Leu)
c.4918G>T (p.Val1640Leu)
c.4600G>T (p.Val1534Leu)
c.4903G>T (p.Val1635Leu)
c.4900G>T (p.Val1634Leu)
c.4609G>T (p.Val1537Leu)
3g.38698326C>GCA352155231SCN10Ac.4894G>C (p.Val1632Leu)
c.4891G>C (p.Val1631Leu)
c.4918G>C (p.Val1640Leu)
c.4600G>C (p.Val1534Leu)
c.4903G>C (p.Val1635Leu)
c.4900G>C (p.Val1634Leu)
c.4609G>C (p.Val1537Leu)
3g.38698326C>TCA352155233SCN10Ac.4894G>A (p.Val1632Met)
c.4891G>A (p.Val1631Met)
c.4918G>A (p.Val1640Met)
c.4600G>A (p.Val1534Met)
c.4903G>A (p.Val1635Met)
c.4900G>A (p.Val1634Met)
c.4609G>A (p.Val1537Met)
gnomAD v4
3g.38698327A=CA1358627841SCN10Ac.4893T= (p.His1631=)
c.4890T= (p.His1630=)
c.4917T= (p.His1639=)
c.4599T= (p.His1533=)
c.4902T= (p.His1634=)
c.4899T= (p.His1633=)
c.4608T= (p.His1536=)
3g.38698327A>CCA352155234SCN10Ac.4893T>G (p.His1631Gln)
c.4890T>G (p.His1630Gln)
c.4917T>G (p.His1639Gln)
c.4599T>G (p.His1533Gln)
c.4902T>G (p.His1634Gln)
c.4899T>G (p.His1633Gln)
c.4608T>G (p.His1536Gln)
dbSNP gnomAD v3 gnomAD v4
3g.38698327A>GCA72947372SCN10Ac.4893T>C (p.His1631=)
c.4890T>C (p.His1630=)
c.4917T>C (p.His1639=)
c.4599T>C (p.His1533=)
c.4902T>C (p.His1634=)
c.4899T>C (p.His1633=)
c.4608T>C (p.His1536=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38698327A>TCA352155236SCN10Ac.4893T>A (p.His1631Gln)
c.4890T>A (p.His1630Gln)
c.4917T>A (p.His1639Gln)
c.4599T>A (p.His1533Gln)
c.4902T>A (p.His1634Gln)
c.4899T>A (p.His1633Gln)
c.4608T>A (p.His1536Gln)
3g.38698328T>ACA352155241SCN10Ac.4892A>T (p.His1631Leu)
c.4889A>T (p.His1630Leu)
c.4916A>T (p.His1639Leu)
c.4598A>T (p.His1533Leu)
c.4901A>T (p.His1634Leu)
c.4898A>T (p.His1633Leu)
c.4607A>T (p.His1536Leu)
3g.38698328T>CCA2319783SCN10Ac.4892A>G (p.His1631Arg)
c.4889A>G (p.His1630Arg)
c.4916A>G (p.His1639Arg)
c.4598A>G (p.His1533Arg)
c.4901A>G (p.His1634Arg)
c.4898A>G (p.His1633Arg)
c.4607A>G (p.His1536Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38698328T>GCA352155238SCN10Ac.4892A>C (p.His1631Pro)
c.4889A>C (p.His1630Pro)
c.4916A>C (p.His1639Pro)
c.4598A>C (p.His1533Pro)
c.4901A>C (p.His1634Pro)
c.4898A>C (p.His1633Pro)
c.4607A>C (p.His1536Pro)
3g.38698328T=CA1358627842SCN10Ac.4892A= (p.His1631=)
c.4889A= (p.His1630=)
c.4916A= (p.His1639=)
c.4598A= (p.His1533=)
c.4901A= (p.His1634=)
c.4898A= (p.His1633=)
c.4607A= (p.His1536=)
3g.38698329G>ACA352155243SCN10Ac.4891C>T (p.His1631Tyr)
c.4888C>T (p.His1630Tyr)
c.4915C>T (p.His1639Tyr)
c.4597C>T (p.His1533Tyr)
c.4900C>T (p.His1634Tyr)
c.4897C>T (p.His1633Tyr)
c.4606C>T (p.His1536Tyr)
gnomAD v4
3g.38698329G>CCA352155244SCN10Ac.4891C>G (p.His1631Asp)
c.4888C>G (p.His1630Asp)
c.4915C>G (p.His1639Asp)
c.4597C>G (p.His1533Asp)
c.4900C>G (p.His1634Asp)
c.4897C>G (p.His1633Asp)
c.4606C>G (p.His1536Asp)
3g.38698329G>TCA352155246SCN10Ac.4891C>A (p.His1631Asn)
c.4888C>A (p.His1630Asn)
c.4915C>A (p.His1639Asn)
c.4597C>A (p.His1533Asn)
c.4900C>A (p.His1634Asn)
c.4897C>A (p.His1633Asn)
c.4606C>A (p.His1536Asn)
COSMIC
3g.38698332dupCA72947375SCN10Ac.4891dup (p.His1631ProfsTer?)
c.4888dup (p.His1630ProfsTer?)
c.4915dup (p.His1639ProfsTer?)
c.4597dup (p.His1533ProfsTer?)
c.4900dup (p.His1634ProfsTer?)
c.4897dup (p.His1633ProfsTer?)
c.4606dup (p.His1536ProfsTer?)
dbSNP
3g.38698330G>ACA433334078SCN10Ac.4890C>T (p.Pro1630=)
c.4887C>T (p.Pro1629=)
c.4914C>T (p.Pro1638=)
c.4596C>T (p.Pro1532=)
c.4899C>T (p.Pro1633=)
c.4896C>T (p.Pro1632=)
c.4605C>T (p.Pro1535=)
3g.38698330G>CCA433334074SCN10Ac.4890C>G (p.Pro1630=)
c.4887C>G (p.Pro1629=)
c.4914C>G (p.Pro1638=)
c.4596C>G (p.Pro1532=)
c.4899C>G (p.Pro1633=)
c.4896C>G (p.Pro1632=)
c.4605C>G (p.Pro1535=)
gnomAD v4
3g.38698330G>TCA433334076SCN10Ac.4890C>A (p.Pro1630=)
c.4887C>A (p.Pro1629=)
c.4914C>A (p.Pro1638=)
c.4596C>A (p.Pro1532=)
c.4899C>A (p.Pro1633=)
c.4896C>A (p.Pro1632=)
c.4605C>A (p.Pro1535=)
3g.38698331G>ACA352155248SCN10Ac.4889C>T (p.Pro1630Leu)
c.4886C>T (p.Pro1629Leu)
c.4913C>T (p.Pro1638Leu)
c.4595C>T (p.Pro1532Leu)
c.4898C>T (p.Pro1633Leu)
c.4895C>T (p.Pro1632Leu)
c.4604C>T (p.Pro1535Leu)
3g.38698331G>CCA72947376SCN10Ac.4889C>G (p.Pro1630Arg)
c.4886C>G (p.Pro1629Arg)
c.4913C>G (p.Pro1638Arg)
c.4595C>G (p.Pro1532Arg)
c.4898C>G (p.Pro1633Arg)
c.4895C>G (p.Pro1632Arg)
c.4604C>G (p.Pro1535Arg)
dbSNP gnomAD v4
3g.38698331G=CA1358627843SCN10Ac.4889C= (p.Pro1630=)
c.4886C= (p.Pro1629=)
c.4913C= (p.Pro1638=)
c.4595C= (p.Pro1532=)
c.4898C= (p.Pro1633=)
c.4895C= (p.Pro1632=)
c.4604C= (p.Pro1535=)
3g.38698331G>TCA352155251SCN10Ac.4889C>A (p.Pro1630His)
c.4886C>A (p.Pro1629His)
c.4913C>A (p.Pro1638His)
c.4595C>A (p.Pro1532His)
c.4898C>A (p.Pro1633His)
c.4895C>A (p.Pro1632His)
c.4604C>A (p.Pro1535His)
3g.38698332G>ACA352155253SCN10Ac.4888C>T (p.Pro1630Ser)
c.4885C>T (p.Pro1629Ser)
c.4912C>T (p.Pro1638Ser)
c.4594C>T (p.Pro1532Ser)
c.4897C>T (p.Pro1633Ser)
c.4894C>T (p.Pro1632Ser)
c.4603C>T (p.Pro1535Ser)
COSMIC
3g.38698332G>CCA352155255SCN10Ac.4888C>G (p.Pro1630Ala)
c.4885C>G (p.Pro1629Ala)
c.4912C>G (p.Pro1638Ala)
c.4594C>G (p.Pro1532Ala)
c.4897C>G (p.Pro1633Ala)
c.4894C>G (p.Pro1632Ala)
c.4603C>G (p.Pro1535Ala)
3g.38698332G>TCA352155254SCN10Ac.4888C>A (p.Pro1630Thr)
c.4885C>A (p.Pro1629Thr)
c.4912C>A (p.Pro1638Thr)
c.4594C>A (p.Pro1532Thr)
c.4897C>A (p.Pro1633Thr)
c.4894C>A (p.Pro1632Thr)
c.4603C>A (p.Pro1535Thr)
3g.38698333A>CCA352155256SCN10Ac.4887T>G (p.Phe1629Leu)
c.4884T>G (p.Phe1628Leu)
c.4911T>G (p.Phe1637Leu)
c.4593T>G (p.Phe1531Leu)
c.4896T>G (p.Phe1632Leu)
c.4893T>G (p.Phe1631Leu)
c.4602T>G (p.Phe1534Leu)
3g.38698333A>GCA433334083SCN10Ac.4887T>C (p.Phe1629=)
c.4884T>C (p.Phe1628=)
c.4911T>C (p.Phe1637=)
c.4593T>C (p.Phe1531=)
c.4896T>C (p.Phe1632=)
c.4893T>C (p.Phe1631=)
c.4602T>C (p.Phe1534=)
3g.38698333A>TCA352155257SCN10Ac.4887T>A (p.Phe1629Leu)
c.4884T>A (p.Phe1628Leu)
c.4911T>A (p.Phe1637Leu)
c.4593T>A (p.Phe1531Leu)
c.4896T>A (p.Phe1632Leu)
c.4893T>A (p.Phe1631Leu)
c.4602T>A (p.Phe1534Leu)
3g.38698334A>CCA352155258SCN10Ac.4886T>G (p.Phe1629Cys)
c.4883T>G (p.Phe1628Cys)
c.4910T>G (p.Phe1637Cys)
c.4592T>G (p.Phe1531Cys)
c.4895T>G (p.Phe1632Cys)
c.4892T>G (p.Phe1631Cys)
c.4601T>G (p.Phe1534Cys)
3g.38698334A>GCA352155260SCN10Ac.4886T>C (p.Phe1629Ser)
c.4883T>C (p.Phe1628Ser)
c.4910T>C (p.Phe1637Ser)
c.4592T>C (p.Phe1531Ser)
c.4895T>C (p.Phe1632Ser)
c.4892T>C (p.Phe1631Ser)
c.4601T>C (p.Phe1534Ser)
3g.38698334A>TCA352155262SCN10Ac.4886T>A (p.Phe1629Tyr)
c.4883T>A (p.Phe1628Tyr)
c.4910T>A (p.Phe1637Tyr)
c.4592T>A (p.Phe1531Tyr)
c.4895T>A (p.Phe1632Tyr)
c.4892T>A (p.Phe1631Tyr)
c.4601T>A (p.Phe1534Tyr)
3g.38698335A>CCA352155263SCN10Ac.4885T>G (p.Phe1629Val)
c.4882T>G (p.Phe1628Val)
c.4909T>G (p.Phe1637Val)
c.4591T>G (p.Phe1531Val)
c.4894T>G (p.Phe1632Val)
c.4891T>G (p.Phe1631Val)
c.4600T>G (p.Phe1534Val)
3g.38698335A>GCA352155264SCN10Ac.4885T>C (p.Phe1629Leu)
c.4882T>C (p.Phe1628Leu)
c.4909T>C (p.Phe1637Leu)
c.4591T>C (p.Phe1531Leu)
c.4894T>C (p.Phe1632Leu)
c.4891T>C (p.Phe1631Leu)
c.4600T>C (p.Phe1534Leu)
gnomAD v4
3g.38698335A>TCA352155266SCN10Ac.4885T>A (p.Phe1629Ile)
c.4882T>A (p.Phe1628Ile)
c.4909T>A (p.Phe1637Ile)
c.4591T>A (p.Phe1531Ile)
c.4894T>A (p.Phe1632Ile)
c.4891T>A (p.Phe1631Ile)
c.4600T>A (p.Phe1534Ile)
3g.38698336delCA2665119514SCN10Ac.4884del (p.His1631MetfsTer2)
c.4881del (p.His1630MetfsTer2)
c.4908del (p.His1639MetfsTer2)
c.4590del (p.His1533MetfsTer2)
c.4893del (p.His1634MetfsTer2)
c.4890del (p.His1633MetfsTer2)
c.4599del (p.His1536MetfsTer2)
gnomAD v4
3g.38698336G>ACA2319784SCN10Ac.4884C>T (p.Ser1628=)
c.4881C>T (p.Ser1627=)
c.4908C>T (p.Ser1636=)
c.4590C>T (p.Ser1530=)
c.4893C>T (p.Ser1631=)
c.4890C>T (p.Ser1630=)
c.4599C>T (p.Ser1533=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38698336G>CCA352155268SCN10Ac.4884C>G (p.Ser1628Arg)
c.4881C>G (p.Ser1627Arg)
c.4908C>G (p.Ser1636Arg)
c.4590C>G (p.Ser1530Arg)
c.4893C>G (p.Ser1631Arg)
c.4890C>G (p.Ser1630Arg)
c.4599C>G (p.Ser1533Arg)
3g.38698336G=CA1358627844SCN10Ac.4884C= (p.Ser1628=)
c.4881C= (p.Ser1627=)
c.4908C= (p.Ser1636=)
c.4590C= (p.Ser1530=)
c.4893C= (p.Ser1631=)
c.4890C= (p.Ser1630=)
c.4599C= (p.Ser1533=)
3g.38698336G>TCA352155270SCN10Ac.4884C>A (p.Ser1628Arg)
c.4881C>A (p.Ser1627Arg)
c.4908C>A (p.Ser1636Arg)
c.4590C>A (p.Ser1530Arg)
c.4893C>A (p.Ser1631Arg)
c.4890C>A (p.Ser1630Arg)
c.4599C>A (p.Ser1533Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38698337C>ACA352155272SCN10Ac.4883G>T (p.Ser1628Ile)
c.4880G>T (p.Ser1627Ile)
c.4907G>T (p.Ser1636Ile)
c.4589G>T (p.Ser1530Ile)
c.4892G>T (p.Ser1631Ile)
c.4889G>T (p.Ser1630Ile)
c.4598G>T (p.Ser1533Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38698337C=CA1358627845SCN10Ac.4883G= (p.Ser1628=)
c.4880G= (p.Ser1627=)
c.4907G= (p.Ser1636=)
c.4589G= (p.Ser1530=)
c.4892G= (p.Ser1631=)
c.4889G= (p.Ser1630=)
c.4598G= (p.Ser1533=)
3g.38698337C>GCA352155276SCN10Ac.4883G>C (p.Ser1628Thr)
c.4880G>C (p.Ser1627Thr)
c.4907G>C (p.Ser1636Thr)
c.4589G>C (p.Ser1530Thr)
c.4892G>C (p.Ser1631Thr)
c.4889G>C (p.Ser1630Thr)
c.4598G>C (p.Ser1533Thr)
3g.38698337C>TCA352155274SCN10Ac.4883G>A (p.Ser1628Asn)
c.4880G>A (p.Ser1627Asn)
c.4907G>A (p.Ser1636Asn)
c.4589G>A (p.Ser1530Asn)
c.4892G>A (p.Ser1631Asn)
c.4889G>A (p.Ser1630Asn)
c.4598G>A (p.Ser1533Asn)
3g.38698338T>ACA352155278SCN10Ac.4882A>T (p.Ser1628Cys)
c.4879A>T (p.Ser1627Cys)
c.4906A>T (p.Ser1636Cys)
c.4588A>T (p.Ser1530Cys)
c.4891A>T (p.Ser1631Cys)
c.4888A>T (p.Ser1630Cys)
c.4597A>T (p.Ser1533Cys)
3g.38698338T>CCA352155280SCN10Ac.4882A>G (p.Ser1628Gly)
c.4879A>G (p.Ser1627Gly)
c.4906A>G (p.Ser1636Gly)
c.4588A>G (p.Ser1530Gly)
c.4891A>G (p.Ser1631Gly)
c.4888A>G (p.Ser1630Gly)
c.4597A>G (p.Ser1533Gly)
ClinVar gnomAD v4
3g.38698338T>GCA352155282SCN10Ac.4882A>C (p.Ser1628Arg)
c.4879A>C (p.Ser1627Arg)
c.4906A>C (p.Ser1636Arg)
c.4588A>C (p.Ser1530Arg)
c.4891A>C (p.Ser1631Arg)
c.4888A>C (p.Ser1630Arg)
c.4597A>C (p.Ser1533Arg)
3g.38698339G>ACA433334089SCN10Ac.4881C>T (p.Ser1627=)
c.4878C>T (p.Ser1626=)
c.4905C>T (p.Ser1635=)
c.4587C>T (p.Ser1529=)
c.4890C>T (p.Ser1630=)
c.4887C>T (p.Ser1629=)
c.4596C>T (p.Ser1532=)
3g.38698339G>CCA433334090SCN10Ac.4881C>G (p.Ser1627=)
c.4878C>G (p.Ser1626=)
c.4905C>G (p.Ser1635=)
c.4587C>G (p.Ser1529=)
c.4890C>G (p.Ser1630=)
c.4887C>G (p.Ser1629=)
c.4596C>G (p.Ser1532=)
3g.38698339G>TCA433334091SCN10Ac.4881C>A (p.Ser1627=)
c.4878C>A (p.Ser1626=)
c.4905C>A (p.Ser1635=)
c.4587C>A (p.Ser1529=)
c.4890C>A (p.Ser1630=)
c.4887C>A (p.Ser1629=)
c.4596C>A (p.Ser1532=)
3g.38698340G>ACA352155283SCN10Ac.4880C>T (p.Ser1627Phe)
c.4877C>T (p.Ser1626Phe)
c.4904C>T (p.Ser1635Phe)
c.4586C>T (p.Ser1529Phe)
c.4889C>T (p.Ser1630Phe)
c.4886C>T (p.Ser1629Phe)
c.4595C>T (p.Ser1532Phe)
3g.38698340G>CCA352155284SCN10Ac.4880C>G (p.Ser1627Cys)
c.4877C>G (p.Ser1626Cys)
c.4904C>G (p.Ser1635Cys)
c.4586C>G (p.Ser1529Cys)
c.4889C>G (p.Ser1630Cys)
c.4886C>G (p.Ser1629Cys)
c.4595C>G (p.Ser1532Cys)
3g.38698340G=CA1358627846SCN10Ac.4880C= (p.Ser1627=)
c.4877C= (p.Ser1626=)
c.4904C= (p.Ser1635=)
c.4586C= (p.Ser1529=)
c.4889C= (p.Ser1630=)
c.4886C= (p.Ser1629=)
c.4595C= (p.Ser1532=)
3g.38698340G>TCA352155285SCN10Ac.4880C>A (p.Ser1627Tyr)
c.4877C>A (p.Ser1626Tyr)
c.4904C>A (p.Ser1635Tyr)
c.4586C>A (p.Ser1529Tyr)
c.4889C>A (p.Ser1630Tyr)
c.4886C>A (p.Ser1629Tyr)
c.4595C>A (p.Ser1532Tyr)
dbSNP
3g.38698341A>CCA352155289SCN10Ac.4879T>G (p.Ser1627Ala)
c.4876T>G (p.Ser1626Ala)
c.4903T>G (p.Ser1635Ala)
c.4585T>G (p.Ser1529Ala)
c.4888T>G (p.Ser1630Ala)
c.4885T>G (p.Ser1629Ala)
c.4594T>G (p.Ser1532Ala)
3g.38698341A>GCA352155290SCN10Ac.4879T>C (p.Ser1627Pro)
c.4876T>C (p.Ser1626Pro)
c.4903T>C (p.Ser1635Pro)
c.4585T>C (p.Ser1529Pro)
c.4888T>C (p.Ser1630Pro)
c.4885T>C (p.Ser1629Pro)
c.4594T>C (p.Ser1532Pro)
3g.38698341A>TCA352155291SCN10Ac.4879T>A (p.Ser1627Thr)
c.4876T>A (p.Ser1626Thr)
c.4903T>A (p.Ser1635Thr)
c.4585T>A (p.Ser1529Thr)
c.4888T>A (p.Ser1630Thr)
c.4885T>A (p.Ser1629Thr)
c.4594T>A (p.Ser1532Thr)
3g.38698341_38698342insTGGAGTACA2319785SCN10Ac.4879_4880insACTCCAT (p.Ser1627TyrfsTer?)
c.4876_4877insACTCCAT (p.Ser1626TyrfsTer?)
c.4903_4904insACTCCAT (p.Ser1635TyrfsTer?)
c.4585_4586insACTCCAT (p.Ser1529TyrfsTer?)
c.4888_4889insACTCCAT (p.Ser1630TyrfsTer?)
c.4885_4886insACTCCAT (p.Ser1629TyrfsTer?)
c.4594_4595insACTCCAT (p.Ser1532TyrfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698341_38698347delinsACATACCCA1358627847SCN10Ac.4873_4879delinsGGTATGT (p.Gly1625=)
c.4870_4876delinsGGTATGT (p.Gly1624=)
c.4897_4903delinsGGTATGT (p.Gly1633=)
c.4579_4585delinsGGTATGT (p.Gly1527=)
c.4882_4888delinsGGTATGT (p.Gly1628=)
c.4879_4885delinsGGTATGT (p.Gly1627=)
c.4588_4594delinsGGTATGT (p.Gly1530=)
3g.38698342C>ACA352155292SCN10Ac.4878G>T (p.Met1626Ile)
c.4875G>T (p.Met1625Ile)
c.4902G>T (p.Met1634Ile)
c.4584G>T (p.Met1528Ile)
c.4887G>T (p.Met1629Ile)
c.4884G>T (p.Met1628Ile)
c.4593G>T (p.Met1531Ile)
3g.38698342C=CA1358627848SCN10Ac.4878G= (p.Met1626=)
c.4875G= (p.Met1625=)
c.4902G= (p.Met1634=)
c.4584G= (p.Met1528=)
c.4887G= (p.Met1629=)
c.4884G= (p.Met1628=)
c.4593G= (p.Met1531=)
3g.38698342C>GCA2319786SCN10Ac.4878G>C (p.Met1626Ile)
c.4875G>C (p.Met1625Ile)
c.4902G>C (p.Met1634Ile)
c.4584G>C (p.Met1528Ile)
c.4887G>C (p.Met1629Ile)
c.4884G>C (p.Met1628Ile)
c.4593G>C (p.Met1531Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698342C>TCA2319787SCN10Ac.4878G>A (p.Met1626Ile)
c.4875G>A (p.Met1625Ile)
c.4902G>A (p.Met1634Ile)
c.4584G>A (p.Met1528Ile)
c.4887G>A (p.Met1629Ile)
c.4884G>A (p.Met1628Ile)
c.4593G>A (p.Met1531Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698342_38698347delinsTGGAGTAGATCA658657285SCN10Ac.4873_4878delinsATCTACTCCA (p.Gly1625IlefsTer?)
c.4870_4875delinsATCTACTCCA (p.Gly1624IlefsTer?)
c.4897_4902delinsATCTACTCCA (p.Gly1633IlefsTer?)
c.4579_4584delinsATCTACTCCA (p.Gly1527IlefsTer?)
c.4882_4887delinsATCTACTCCA (p.Gly1628IlefsTer?)
c.4879_4884delinsATCTACTCCA (p.Gly1627IlefsTer?)
c.4588_4593delinsATCTACTCCA (p.Gly1530IlefsTer?)
ClinVar dbSNP
3g.38698343A>CCA352155298SCN10Ac.4877T>G (p.Met1626Arg)
c.4874T>G (p.Met1625Arg)
c.4901T>G (p.Met1634Arg)
c.4583T>G (p.Met1528Arg)
c.4886T>G (p.Met1629Arg)
c.4883T>G (p.Met1628Arg)
c.4592T>G (p.Met1531Arg)
3g.38698343A>GCA352155296SCN10Ac.4877T>C (p.Met1626Thr)
c.4874T>C (p.Met1625Thr)
c.4901T>C (p.Met1634Thr)
c.4583T>C (p.Met1528Thr)
c.4886T>C (p.Met1629Thr)
c.4883T>C (p.Met1628Thr)
c.4592T>C (p.Met1531Thr)
ClinVar dbSNP gnomAD v4
3g.38698343A>TCA352155295SCN10Ac.4877T>A (p.Met1626Lys)
c.4874T>A (p.Met1625Lys)
c.4901T>A (p.Met1634Lys)
c.4583T>A (p.Met1528Lys)
c.4886T>A (p.Met1629Lys)
c.4883T>A (p.Met1628Lys)
c.4592T>A (p.Met1531Lys)
gnomAD v4
3g.38698344T>ACA352155300SCN10Ac.4876A>T (p.Met1626Leu)
c.4873A>T (p.Met1625Leu)
c.4900A>T (p.Met1634Leu)
c.4582A>T (p.Met1528Leu)
c.4885A>T (p.Met1629Leu)
c.4882A>T (p.Met1628Leu)
c.4591A>T (p.Met1531Leu)
3g.38698344T>CCA352155302SCN10Ac.4876A>G (p.Met1626Val)
c.4873A>G (p.Met1625Val)
c.4900A>G (p.Met1634Val)
c.4582A>G (p.Met1528Val)
c.4885A>G (p.Met1629Val)
c.4882A>G (p.Met1628Val)
c.4591A>G (p.Met1531Val)
3g.38698344T>GCA352155305SCN10Ac.4876A>C (p.Met1626Leu)
c.4873A>C (p.Met1625Leu)
c.4900A>C (p.Met1634Leu)
c.4582A>C (p.Met1528Leu)
c.4885A>C (p.Met1629Leu)
c.4882A>C (p.Met1628Leu)
c.4591A>C (p.Met1531Leu)
3g.38698344_38698347delinsTACCCA1358627849SCN10Ac.4873_4876delinsGGTA (p.Gly1625=)
c.4870_4873delinsGGTA (p.Gly1624=)
c.4897_4900delinsGGTA (p.Gly1633=)
c.4579_4582delinsGGTA (p.Gly1527=)
c.4882_4885delinsGGTA (p.Gly1628=)
c.4879_4882delinsGGTA (p.Gly1627=)
c.4588_4591delinsGGTA (p.Gly1530=)
3g.38698345A=CA1358627850SCN10Ac.4875T= (p.Gly1625=)
c.4872T= (p.Gly1624=)
c.4899T= (p.Gly1633=)
c.4581T= (p.Gly1527=)
c.4884T= (p.Gly1628=)
c.4881T= (p.Gly1627=)
c.4590T= (p.Gly1530=)
3g.38698345A>CCA433334100SCN10Ac.4875T>G (p.Gly1625=)
c.4872T>G (p.Gly1624=)
c.4899T>G (p.Gly1633=)
c.4581T>G (p.Gly1527=)
c.4884T>G (p.Gly1628=)
c.4881T>G (p.Gly1627=)
c.4590T>G (p.Gly1530=)
3g.38698345A>GCA433334101SCN10Ac.4875T>C (p.Gly1625=)
c.4872T>C (p.Gly1624=)
c.4899T>C (p.Gly1633=)
c.4581T>C (p.Gly1527=)
c.4884T>C (p.Gly1628=)
c.4881T>C (p.Gly1627=)
c.4590T>C (p.Gly1530=)
gnomAD v4
3g.38698345A>TCA72947409SCN10Ac.4875T>A (p.Gly1625=)
c.4872T>A (p.Gly1624=)
c.4899T>A (p.Gly1633=)
c.4581T>A (p.Gly1527=)
c.4884T>A (p.Gly1628=)
c.4881T>A (p.Gly1627=)
c.4590T>A (p.Gly1530=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38698345_38698347delCA2319788SCN10Ac.4873_4875del (p.Gly1625del)
c.4870_4872del (p.Gly1624del)
c.4897_4899del (p.Gly1633del)
c.4579_4581del (p.Gly1527del)
c.4882_4884del (p.Gly1628del)
c.4879_4881del (p.Gly1627del)
c.4588_4590del (p.Gly1530del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698346C>ACA352155307SCN10Ac.4874G>T (p.Gly1625Val)
c.4871G>T (p.Gly1624Val)
c.4898G>T (p.Gly1633Val)
c.4580G>T (p.Gly1527Val)
c.4883G>T (p.Gly1628Val)
c.4880G>T (p.Gly1627Val)
c.4589G>T (p.Gly1530Val)
gnomAD v4
3g.38698346C>GCA352155308SCN10Ac.4874G>C (p.Gly1625Ala)
c.4871G>C (p.Gly1624Ala)
c.4898G>C (p.Gly1633Ala)
c.4580G>C (p.Gly1527Ala)
c.4883G>C (p.Gly1628Ala)
c.4880G>C (p.Gly1627Ala)
c.4589G>C (p.Gly1530Ala)
3g.38698346C>TCA352155310SCN10Ac.4874G>A (p.Gly1625Asp)
c.4871G>A (p.Gly1624Asp)
c.4898G>A (p.Gly1633Asp)
c.4580G>A (p.Gly1527Asp)
c.4883G>A (p.Gly1628Asp)
c.4880G>A (p.Gly1627Asp)
c.4589G>A (p.Gly1530Asp)
3g.38698347C>ACA2319789SCN10Ac.4873G>T (p.Gly1625Cys)
c.4870G>T (p.Gly1624Cys)
c.4897G>T (p.Gly1633Cys)
c.4579G>T (p.Gly1527Cys)
c.4882G>T (p.Gly1628Cys)
c.4879G>T (p.Gly1627Cys)
c.4588G>T (p.Gly1530Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38698347C=CA1358627851SCN10Ac.4873G= (p.Gly1625=)
c.4870G= (p.Gly1624=)
c.4897G= (p.Gly1633=)
c.4579G= (p.Gly1527=)
c.4882G= (p.Gly1628=)
c.4879G= (p.Gly1627=)
c.4588G= (p.Gly1530=)
3g.38698347C>GCA352155313SCN10Ac.4873G>C (p.Gly1625Arg)
c.4870G>C (p.Gly1624Arg)
c.4897G>C (p.Gly1633Arg)
c.4579G>C (p.Gly1527Arg)
c.4882G>C (p.Gly1628Arg)
c.4879G>C (p.Gly1627Arg)
c.4588G>C (p.Gly1530Arg)
3g.38698347C>TCA2319790SCN10Ac.4873G>A (p.Gly1625Ser)
c.4870G>A (p.Gly1624Ser)
c.4897G>A (p.Gly1633Ser)
c.4579G>A (p.Gly1527Ser)
c.4882G>A (p.Gly1628Ser)
c.4879G>A (p.Gly1627Ser)
c.4588G>A (p.Gly1530Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698348G>ACA2319791SCN10Ac.4872C>T (p.Phe1624=)
c.4869C>T (p.Phe1623=)
c.4896C>T (p.Phe1632=)
c.4578C>T (p.Phe1526=)
c.4881C>T (p.Phe1627=)
c.4878C>T (p.Phe1626=)
c.4587C>T (p.Phe1529=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38698348G>CCA352155316SCN10Ac.4872C>G (p.Phe1624Leu)
c.4869C>G (p.Phe1623Leu)
c.4896C>G (p.Phe1632Leu)
c.4578C>G (p.Phe1526Leu)
c.4881C>G (p.Phe1627Leu)
c.4878C>G (p.Phe1626Leu)
c.4587C>G (p.Phe1529Leu)
3g.38698348G=CA1358627852SCN10Ac.4872C= (p.Phe1624=)
c.4869C= (p.Phe1623=)
c.4896C= (p.Phe1632=)
c.4578C= (p.Phe1526=)
c.4881C= (p.Phe1627=)
c.4878C= (p.Phe1626=)
c.4587C= (p.Phe1529=)
3g.38698348G>TCA352155318SCN10Ac.4872C>A (p.Phe1624Leu)
c.4869C>A (p.Phe1623Leu)
c.4896C>A (p.Phe1632Leu)
c.4578C>A (p.Phe1526Leu)
c.4881C>A (p.Phe1627Leu)
c.4878C>A (p.Phe1626Leu)
c.4587C>A (p.Phe1529Leu)
3g.38698349A>CCA352155322SCN10Ac.4871T>G (p.Phe1624Cys)
c.4868T>G (p.Phe1623Cys)
c.4895T>G (p.Phe1632Cys)
c.4577T>G (p.Phe1526Cys)
c.4880T>G (p.Phe1627Cys)
c.4877T>G (p.Phe1626Cys)
c.4586T>G (p.Phe1529Cys)
3g.38698349A>GCA352155324SCN10Ac.4871T>C (p.Phe1624Ser)
c.4868T>C (p.Phe1623Ser)
c.4895T>C (p.Phe1632Ser)
c.4577T>C (p.Phe1526Ser)
c.4880T>C (p.Phe1627Ser)
c.4877T>C (p.Phe1626Ser)
c.4586T>C (p.Phe1529Ser)
3g.38698349A>TCA352155320SCN10Ac.4871T>A (p.Phe1624Tyr)
c.4868T>A (p.Phe1623Tyr)
c.4895T>A (p.Phe1632Tyr)
c.4577T>A (p.Phe1526Tyr)
c.4880T>A (p.Phe1627Tyr)
c.4877T>A (p.Phe1626Tyr)
c.4586T>A (p.Phe1529Tyr)
3g.38698350A>CCA352155326SCN10Ac.4870T>G (p.Phe1624Val)
c.4867T>G (p.Phe1623Val)
c.4894T>G (p.Phe1632Val)
c.4576T>G (p.Phe1526Val)
c.4879T>G (p.Phe1627Val)
c.4876T>G (p.Phe1626Val)
c.4585T>G (p.Phe1529Val)
3g.38698350A>GCA352155328SCN10Ac.4870T>C (p.Phe1624Leu)
c.4867T>C (p.Phe1623Leu)
c.4894T>C (p.Phe1632Leu)
c.4576T>C (p.Phe1526Leu)
c.4879T>C (p.Phe1627Leu)
c.4876T>C (p.Phe1626Leu)
c.4585T>C (p.Phe1529Leu)
3g.38698350A>TCA352155330SCN10Ac.4870T>A (p.Phe1624Ile)
c.4867T>A (p.Phe1623Ile)
c.4894T>A (p.Phe1632Ile)
c.4576T>A (p.Phe1526Ile)
c.4879T>A (p.Phe1627Ile)
c.4876T>A (p.Phe1626Ile)
c.4585T>A (p.Phe1529Ile)
3g.38698350_38698351insCACACCCAACACACA2755903727SCN10Ac.4870_4871insGTGTTGGGTGTGT (p.Phe1624CysfsTer?)
c.4867_4868insGTGTTGGGTGTGT (p.Phe1623CysfsTer?)
c.4894_4895insGTGTTGGGTGTGT (p.Phe1632CysfsTer?)
c.4576_4577insGTGTTGGGTGTGT (p.Phe1526CysfsTer?)
c.4879_4880insGTGTTGGGTGTGT (p.Phe1627CysfsTer?)
c.4876_4877insGTGTTGGGTGTGT (p.Phe1626CysfsTer?)
c.4585_4586insGTGTTGGGTGTGT (p.Phe1529CysfsTer?)
3g.38698351G>ACA433334106SCN10Ac.4869C>T (p.Ile1623=)
c.4866C>T (p.Ile1622=)
c.4893C>T (p.Ile1631=)
c.4575C>T (p.Ile1525=)
c.4878C>T (p.Ile1626=)
c.4875C>T (p.Ile1625=)
c.4584C>T (p.Ile1528=)
3g.38698351G>CCA352155332SCN10Ac.4869C>G (p.Ile1623Met)
c.4866C>G (p.Ile1622Met)
c.4893C>G (p.Ile1631Met)
c.4575C>G (p.Ile1525Met)
c.4878C>G (p.Ile1626Met)
c.4875C>G (p.Ile1625Met)
c.4584C>G (p.Ile1528Met)
ClinVar
3g.38698351G>TCA433334110SCN10Ac.4869C>A (p.Ile1623=)
c.4866C>A (p.Ile1622=)
c.4893C>A (p.Ile1631=)
c.4575C>A (p.Ile1525=)
c.4878C>A (p.Ile1626=)
c.4875C>A (p.Ile1625=)
c.4584C>A (p.Ile1528=)
3g.38698352A>CCA352155334SCN10Ac.4868T>G (p.Ile1623Ser)
c.4865T>G (p.Ile1622Ser)
c.4892T>G (p.Ile1631Ser)
c.4574T>G (p.Ile1525Ser)
c.4877T>G (p.Ile1626Ser)
c.4874T>G (p.Ile1625Ser)
c.4583T>G (p.Ile1528Ser)
3g.38698352A>GCA352155336SCN10Ac.4868T>C (p.Ile1623Thr)
c.4865T>C (p.Ile1622Thr)
c.4892T>C (p.Ile1631Thr)
c.4574T>C (p.Ile1525Thr)
c.4877T>C (p.Ile1626Thr)
c.4874T>C (p.Ile1625Thr)
c.4583T>C (p.Ile1528Thr)
gnomAD v4
3g.38698352A>TCA352155338SCN10Ac.4868T>A (p.Ile1623Asn)
c.4865T>A (p.Ile1622Asn)
c.4892T>A (p.Ile1631Asn)
c.4574T>A (p.Ile1525Asn)
c.4877T>A (p.Ile1626Asn)
c.4874T>A (p.Ile1625Asn)
c.4583T>A (p.Ile1528Asn)
3g.38698353T>ACA352155340SCN10Ac.4867A>T (p.Ile1623Phe)
c.4864A>T (p.Ile1622Phe)
c.4891A>T (p.Ile1631Phe)
c.4573A>T (p.Ile1525Phe)
c.4876A>T (p.Ile1626Phe)
c.4873A>T (p.Ile1625Phe)
c.4582A>T (p.Ile1528Phe)
3g.38698353T>CCA2319792SCN10Ac.4867A>G (p.Ile1623Val)
c.4864A>G (p.Ile1622Val)
c.4891A>G (p.Ile1631Val)
c.4573A>G (p.Ile1525Val)
c.4876A>G (p.Ile1626Val)
c.4873A>G (p.Ile1625Val)
c.4582A>G (p.Ile1528Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698353T>GCA352155343SCN10Ac.4867A>C (p.Ile1623Leu)
c.4864A>C (p.Ile1622Leu)
c.4891A>C (p.Ile1631Leu)
c.4573A>C (p.Ile1525Leu)
c.4876A>C (p.Ile1626Leu)
c.4873A>C (p.Ile1625Leu)
c.4582A>C (p.Ile1528Leu)
3g.38698353T=CA1358627853SCN10Ac.4867A= (p.Ile1623=)
c.4864A= (p.Ile1622=)
c.4891A= (p.Ile1631=)
c.4573A= (p.Ile1525=)
c.4876A= (p.Ile1626=)
c.4873A= (p.Ile1625=)
c.4582A= (p.Ile1528=)
3g.38698353_38698354delinsCGCA915942363SCN10Ac.4866_4867delinsCG (p.Ile1623Val)
c.4863_4864delinsCG (p.Ile1622Val)
c.4890_4891delinsCG (p.Ile1631Val)
c.4572_4573delinsCG (p.Ile1525Val)
c.4875_4876delinsCG (p.Ile1626Val)
c.4872_4873delinsCG (p.Ile1625Val)
c.4581_4582delinsCG (p.Ile1528Val)
ClinVar dbSNP
3g.38698353_38698354delinsTACA1358627854SCN10Ac.4866_4867delinsTA (p.Ser1622=)
c.4863_4864delinsTA (p.Ser1621=)
c.4890_4891delinsTA (p.Ser1630=)
c.4572_4573delinsTA (p.Ser1524=)
c.4875_4876delinsTA (p.Ser1625=)
c.4872_4873delinsTA (p.Ser1624=)
c.4581_4582delinsTA (p.Ser1527=)
3g.38698354A=CA1358627855SCN10Ac.4866T= (p.Ser1622=)
c.4863T= (p.Ser1621=)
c.4890T= (p.Ser1630=)
c.4572T= (p.Ser1524=)
c.4875T= (p.Ser1625=)
c.4872T= (p.Ser1624=)
c.4581T= (p.Ser1527=)
3g.38698354A>CCA433334116SCN10Ac.4866T>G (p.Ser1622=)
c.4863T>G (p.Ser1621=)
c.4890T>G (p.Ser1630=)
c.4572T>G (p.Ser1524=)
c.4875T>G (p.Ser1625=)
c.4872T>G (p.Ser1624=)
c.4581T>G (p.Ser1527=)
dbSNP
3g.38698354A>GCA2319793SCN10Ac.4866T>C (p.Ser1622=)
c.4863T>C (p.Ser1621=)
c.4890T>C (p.Ser1630=)
c.4572T>C (p.Ser1524=)
c.4875T>C (p.Ser1625=)
c.4872T>C (p.Ser1624=)
c.4581T>C (p.Ser1527=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698354A>TCA433334115SCN10Ac.4866T>A (p.Ser1622=)
c.4863T>A (p.Ser1621=)
c.4890T>A (p.Ser1630=)
c.4572T>A (p.Ser1524=)
c.4875T>A (p.Ser1625=)
c.4872T>A (p.Ser1624=)
c.4581T>A (p.Ser1527=)
dbSNP COSMIC
3g.38698355G>ACA352155350SCN10Ac.4865C>T (p.Ser1622Phe)
c.4862C>T (p.Ser1621Phe)
c.4889C>T (p.Ser1630Phe)
c.4571C>T (p.Ser1524Phe)
c.4874C>T (p.Ser1625Phe)
c.4871C>T (p.Ser1624Phe)
c.4580C>T (p.Ser1527Phe)
COSMIC
3g.38698355G>CCA352155349SCN10Ac.4865C>G (p.Ser1622Cys)
c.4862C>G (p.Ser1621Cys)
c.4889C>G (p.Ser1630Cys)
c.4571C>G (p.Ser1524Cys)
c.4874C>G (p.Ser1625Cys)
c.4871C>G (p.Ser1624Cys)
c.4580C>G (p.Ser1527Cys)
gnomAD v4
3g.38698355G=CA1358627856SCN10Ac.4865C= (p.Ser1622=)
c.4862C= (p.Ser1621=)
c.4889C= (p.Ser1630=)
c.4571C= (p.Ser1524=)
c.4874C= (p.Ser1625=)
c.4871C= (p.Ser1624=)
c.4580C= (p.Ser1527=)
3g.38698355G>TCA352155347SCN10Ac.4865C>A (p.Ser1622Tyr)
c.4862C>A (p.Ser1621Tyr)
c.4889C>A (p.Ser1630Tyr)
c.4571C>A (p.Ser1524Tyr)
c.4874C>A (p.Ser1625Tyr)
c.4871C>A (p.Ser1624Tyr)
c.4580C>A (p.Ser1527Tyr)
dbSNP gnomAD v2
3g.38698356A>CCA352155351SCN10Ac.4864T>G (p.Ser1622Ala)
c.4861T>G (p.Ser1621Ala)
c.4888T>G (p.Ser1630Ala)
c.4570T>G (p.Ser1524Ala)
c.4873T>G (p.Ser1625Ala)
c.4870T>G (p.Ser1624Ala)
c.4579T>G (p.Ser1527Ala)
gnomAD v4
3g.38698356A>GCA352155352SCN10Ac.4864T>C (p.Ser1622Pro)
c.4861T>C (p.Ser1621Pro)
c.4888T>C (p.Ser1630Pro)
c.4570T>C (p.Ser1524Pro)
c.4873T>C (p.Ser1625Pro)
c.4870T>C (p.Ser1624Pro)
c.4579T>C (p.Ser1527Pro)
3g.38698356A>TCA352155354SCN10Ac.4864T>A (p.Ser1622Thr)
c.4861T>A (p.Ser1621Thr)
c.4888T>A (p.Ser1630Thr)
c.4570T>A (p.Ser1524Thr)
c.4873T>A (p.Ser1625Thr)
c.4870T>A (p.Ser1624Thr)
c.4579T>A (p.Ser1527Thr)
3g.38698357G>ACA433334120SCN10Ac.4863C>T (p.Tyr1621=)
c.4860C>T (p.Tyr1620=)
c.4887C>T (p.Tyr1629=)
c.4569C>T (p.Tyr1523=)
c.4872C>T (p.Tyr1624=)
c.4869C>T (p.Tyr1623=)
c.4578C>T (p.Tyr1526=)
3g.38698357G>CCA352155355SCN10Ac.4863C>G (p.Tyr1621Ter)
c.4860C>G (p.Tyr1620Ter)
c.4887C>G (p.Tyr1629Ter)
c.4569C>G (p.Tyr1523Ter)
c.4872C>G (p.Tyr1624Ter)
c.4869C>G (p.Tyr1623Ter)
c.4578C>G (p.Tyr1526Ter)
3g.38698357G>TCA352155356SCN10Ac.4863C>A (p.Tyr1621Ter)
c.4860C>A (p.Tyr1620Ter)
c.4887C>A (p.Tyr1629Ter)
c.4569C>A (p.Tyr1523Ter)
c.4872C>A (p.Tyr1624Ter)
c.4869C>A (p.Tyr1623Ter)
c.4578C>A (p.Tyr1526Ter)
3g.38698358T>ACA352155359SCN10Ac.4862A>T (p.Tyr1621Phe)
c.4859A>T (p.Tyr1620Phe)
c.4886A>T (p.Tyr1629Phe)
c.4568A>T (p.Tyr1523Phe)
c.4871A>T (p.Tyr1624Phe)
c.4868A>T (p.Tyr1623Phe)
c.4577A>T (p.Tyr1526Phe)
3g.38698358T>CCA352155360SCN10Ac.4862A>G (p.Tyr1621Cys)
c.4859A>G (p.Tyr1620Cys)
c.4886A>G (p.Tyr1629Cys)
c.4568A>G (p.Tyr1523Cys)
c.4871A>G (p.Tyr1624Cys)
c.4868A>G (p.Tyr1623Cys)
c.4577A>G (p.Tyr1526Cys)
3g.38698358T>GCA352155362SCN10Ac.4862A>C (p.Tyr1621Ser)
c.4859A>C (p.Tyr1620Ser)
c.4886A>C (p.Tyr1629Ser)
c.4568A>C (p.Tyr1523Ser)
c.4871A>C (p.Tyr1624Ser)
c.4868A>C (p.Tyr1623Ser)
c.4577A>C (p.Tyr1526Ser)
3g.38698359A>CCA352155364SCN10Ac.4861T>G (p.Tyr1621Asp)
c.4858T>G (p.Tyr1620Asp)
c.4885T>G (p.Tyr1629Asp)
c.4567T>G (p.Tyr1523Asp)
c.4870T>G (p.Tyr1624Asp)
c.4867T>G (p.Tyr1623Asp)
c.4576T>G (p.Tyr1526Asp)
3g.38698359A>GCA352155365SCN10Ac.4861T>C (p.Tyr1621His)
c.4858T>C (p.Tyr1620His)
c.4885T>C (p.Tyr1629His)
c.4567T>C (p.Tyr1523His)
c.4870T>C (p.Tyr1624His)
c.4867T>C (p.Tyr1623His)
c.4576T>C (p.Tyr1526His)
3g.38698359A>TCA352155368SCN10Ac.4861T>A (p.Tyr1621Asn)
c.4858T>A (p.Tyr1620Asn)
c.4885T>A (p.Tyr1629Asn)
c.4567T>A (p.Tyr1523Asn)
c.4870T>A (p.Tyr1624Asn)
c.4867T>A (p.Tyr1623Asn)
c.4576T>A (p.Tyr1526Asn)
3g.38698360G>ACA433334124SCN10Ac.4860C>T (p.Ile1620=)
c.4857C>T (p.Ile1619=)
c.4884C>T (p.Ile1628=)
c.4566C>T (p.Ile1522=)
c.4869C>T (p.Ile1623=)
c.4866C>T (p.Ile1622=)
c.4575C>T (p.Ile1525=)
3g.38698360G>CCA352155370SCN10Ac.4860C>G (p.Ile1620Met)
c.4857C>G (p.Ile1619Met)
c.4884C>G (p.Ile1628Met)
c.4566C>G (p.Ile1522Met)
c.4869C>G (p.Ile1623Met)
c.4866C>G (p.Ile1622Met)
c.4575C>G (p.Ile1525Met)
3g.38698360G>TCA433334126SCN10Ac.4860C>A (p.Ile1620=)
c.4857C>A (p.Ile1619=)
c.4884C>A (p.Ile1628=)
c.4566C>A (p.Ile1522=)
c.4869C>A (p.Ile1623=)
c.4866C>A (p.Ile1622=)
c.4575C>A (p.Ile1525=)
3g.38698361A=CA1358627857SCN10Ac.4859T= (p.Ile1620=)
c.4856T= (p.Ile1619=)
c.4883T= (p.Ile1628=)
c.4565T= (p.Ile1522=)
c.4868T= (p.Ile1623=)
c.4865T= (p.Ile1622=)
c.4574T= (p.Ile1525=)
3g.38698361A>CCA352155371SCN10Ac.4859T>G (p.Ile1620Ser)
c.4856T>G (p.Ile1619Ser)
c.4883T>G (p.Ile1628Ser)
c.4565T>G (p.Ile1522Ser)
c.4868T>G (p.Ile1623Ser)
c.4865T>G (p.Ile1622Ser)
c.4574T>G (p.Ile1525Ser)
3g.38698361A>GCA352155374SCN10Ac.4859T>C (p.Ile1620Thr)
c.4856T>C (p.Ile1619Thr)
c.4883T>C (p.Ile1628Thr)
c.4565T>C (p.Ile1522Thr)
c.4868T>C (p.Ile1623Thr)
c.4865T>C (p.Ile1622Thr)
c.4574T>C (p.Ile1525Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38698361A>TCA352155373SCN10Ac.4859T>A (p.Ile1620Asn)
c.4856T>A (p.Ile1619Asn)
c.4883T>A (p.Ile1628Asn)
c.4565T>A (p.Ile1522Asn)
c.4868T>A (p.Ile1623Asn)
c.4865T>A (p.Ile1622Asn)
c.4574T>A (p.Ile1525Asn)
3g.38698362T>ACA352155377SCN10Ac.4858A>T (p.Ile1620Phe)
c.4855A>T (p.Ile1619Phe)
c.4882A>T (p.Ile1628Phe)
c.4564A>T (p.Ile1522Phe)
c.4867A>T (p.Ile1623Phe)
c.4864A>T (p.Ile1622Phe)
c.4573A>T (p.Ile1525Phe)
dbSNP gnomAD v3 gnomAD v4
3g.38698362T>CCA352155380SCN10Ac.4858A>G (p.Ile1620Val)
c.4855A>G (p.Ile1619Val)
c.4882A>G (p.Ile1628Val)
c.4564A>G (p.Ile1522Val)
c.4867A>G (p.Ile1623Val)
c.4864A>G (p.Ile1622Val)
c.4573A>G (p.Ile1525Val)
ClinVar
3g.38698362T>GCA352155383SCN10Ac.4858A>C (p.Ile1620Leu)
c.4855A>C (p.Ile1619Leu)
c.4882A>C (p.Ile1628Leu)
c.4564A>C (p.Ile1522Leu)
c.4867A>C (p.Ile1623Leu)
c.4864A>C (p.Ile1622Leu)
c.4573A>C (p.Ile1525Leu)
3g.38698362T=CA1358627858SCN10Ac.4858A= (p.Ile1620=)
c.4855A= (p.Ile1619=)
c.4882A= (p.Ile1628=)
c.4564A= (p.Ile1522=)
c.4867A= (p.Ile1623=)
c.4864A= (p.Ile1622=)
c.4573A= (p.Ile1525=)
3g.38698363G>ACA433334131SCN10Ac.4857C>T (p.Phe1619=)
c.4854C>T (p.Phe1618=)
c.4881C>T (p.Phe1627=)
c.4563C>T (p.Phe1521=)
c.4866C>T (p.Phe1622=)
c.4863C>T (p.Phe1621=)
c.4572C>T (p.Phe1524=)
3g.38698363G>CCA352155385SCN10Ac.4857C>G (p.Phe1619Leu)
c.4854C>G (p.Phe1618Leu)
c.4881C>G (p.Phe1627Leu)
c.4563C>G (p.Phe1521Leu)
c.4866C>G (p.Phe1622Leu)
c.4863C>G (p.Phe1621Leu)
c.4572C>G (p.Phe1524Leu)
gnomAD v4
3g.38698363G=CA1358627859SCN10Ac.4857C= (p.Phe1619=)
c.4854C= (p.Phe1618=)
c.4881C= (p.Phe1627=)
c.4563C= (p.Phe1521=)
c.4866C= (p.Phe1622=)
c.4863C= (p.Phe1621=)
c.4572C= (p.Phe1524=)
3g.38698363G>TCA2319794SCN10Ac.4857C>A (p.Phe1619Leu)
c.4854C>A (p.Phe1618Leu)
c.4881C>A (p.Phe1627Leu)
c.4563C>A (p.Phe1521Leu)
c.4866C>A (p.Phe1622Leu)
c.4863C>A (p.Phe1621Leu)
c.4572C>A (p.Phe1524Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698364A=CA1358627860SCN10Ac.4856T= (p.Phe1619=)
c.4853T= (p.Phe1618=)
c.4880T= (p.Phe1627=)
c.4562T= (p.Phe1521=)
c.4865T= (p.Phe1622=)
c.4862T= (p.Phe1621=)
c.4571T= (p.Phe1524=)
3g.38698364A>CCA352155391SCN10Ac.4856T>G (p.Phe1619Cys)
c.4853T>G (p.Phe1618Cys)
c.4880T>G (p.Phe1627Cys)
c.4562T>G (p.Phe1521Cys)
c.4865T>G (p.Phe1622Cys)
c.4862T>G (p.Phe1621Cys)
c.4571T>G (p.Phe1524Cys)
3g.38698364A>GCA352155389SCN10Ac.4856T>C (p.Phe1619Ser)
c.4853T>C (p.Phe1618Ser)
c.4880T>C (p.Phe1627Ser)
c.4562T>C (p.Phe1521Ser)
c.4865T>C (p.Phe1622Ser)
c.4862T>C (p.Phe1621Ser)
c.4571T>C (p.Phe1524Ser)
3g.38698364A>TCA352155387SCN10Ac.4856T>A (p.Phe1619Tyr)
c.4853T>A (p.Phe1618Tyr)
c.4880T>A (p.Phe1627Tyr)
c.4562T>A (p.Phe1521Tyr)
c.4865T>A (p.Phe1622Tyr)
c.4862T>A (p.Phe1621Tyr)
c.4571T>A (p.Phe1524Tyr)
dbSNP
3g.38698365A>CCA352155393SCN10Ac.4855T>G (p.Phe1619Val)
c.4852T>G (p.Phe1618Val)
c.4879T>G (p.Phe1627Val)
c.4561T>G (p.Phe1521Val)
c.4864T>G (p.Phe1622Val)
c.4861T>G (p.Phe1621Val)
c.4570T>G (p.Phe1524Val)
3g.38698365A>GCA352155395SCN10Ac.4855T>C (p.Phe1619Leu)
c.4852T>C (p.Phe1618Leu)
c.4879T>C (p.Phe1627Leu)
c.4561T>C (p.Phe1521Leu)
c.4864T>C (p.Phe1622Leu)
c.4861T>C (p.Phe1621Leu)
c.4570T>C (p.Phe1524Leu)
gnomAD v4
3g.38698365A>TCA352155398SCN10Ac.4855T>A (p.Phe1619Ile)
c.4852T>A (p.Phe1618Ile)
c.4879T>A (p.Phe1627Ile)
c.4561T>A (p.Phe1521Ile)
c.4864T>A (p.Phe1622Ile)
c.4861T>A (p.Phe1621Ile)
c.4570T>A (p.Phe1524Ile)
3g.38698366C>ACA352155401SCN10Ac.4854G>T (p.Met1618Ile)
c.4851G>T (p.Met1617Ile)
c.4878G>T (p.Met1626Ile)
c.4560G>T (p.Met1520Ile)
c.4863G>T (p.Met1621Ile)
c.4860G>T (p.Met1620Ile)
c.4569G>T (p.Met1523Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38698366C=CA1358627861SCN10Ac.4854G= (p.Met1618=)
c.4851G= (p.Met1617=)
c.4878G= (p.Met1626=)
c.4560G= (p.Met1520=)
c.4863G= (p.Met1621=)
c.4860G= (p.Met1620=)
c.4569G= (p.Met1523=)
3g.38698366C>GCA352155402SCN10Ac.4854G>C (p.Met1618Ile)
c.4851G>C (p.Met1617Ile)
c.4878G>C (p.Met1626Ile)
c.4560G>C (p.Met1520Ile)
c.4863G>C (p.Met1621Ile)
c.4860G>C (p.Met1620Ile)
c.4569G>C (p.Met1523Ile)
3g.38698366C>TCA352155403SCN10Ac.4854G>A (p.Met1618Ile)
c.4851G>A (p.Met1617Ile)
c.4878G>A (p.Met1626Ile)
c.4560G>A (p.Met1520Ile)
c.4863G>A (p.Met1621Ile)
c.4860G>A (p.Met1620Ile)
c.4569G>A (p.Met1523Ile)
3g.38698367A>CCA352155408SCN10Ac.4853T>G (p.Met1618Arg)
c.4850T>G (p.Met1617Arg)
c.4877T>G (p.Met1626Arg)
c.4559T>G (p.Met1520Arg)
c.4862T>G (p.Met1621Arg)
c.4859T>G (p.Met1620Arg)
c.4568T>G (p.Met1523Arg)
3g.38698367A>GCA352155405SCN10Ac.4853T>C (p.Met1618Thr)
c.4850T>C (p.Met1617Thr)
c.4877T>C (p.Met1626Thr)
c.4559T>C (p.Met1520Thr)
c.4862T>C (p.Met1621Thr)
c.4859T>C (p.Met1620Thr)
c.4568T>C (p.Met1523Thr)
3g.38698367A>TCA352155406SCN10Ac.4853T>A (p.Met1618Lys)
c.4850T>A (p.Met1617Lys)
c.4877T>A (p.Met1626Lys)
c.4559T>A (p.Met1520Lys)
c.4862T>A (p.Met1621Lys)
c.4859T>A (p.Met1620Lys)
c.4568T>A (p.Met1523Lys)
3g.38698368T>ACA352155411SCN10Ac.4852A>T (p.Met1618Leu)
c.4849A>T (p.Met1617Leu)
c.4876A>T (p.Met1626Leu)
c.4558A>T (p.Met1520Leu)
c.4861A>T (p.Met1621Leu)
c.4858A>T (p.Met1620Leu)
c.4567A>T (p.Met1523Leu)
gnomAD v4
3g.38698368T>CCA352155412SCN10Ac.4852A>G (p.Met1618Val)
c.4849A>G (p.Met1617Val)
c.4876A>G (p.Met1626Val)
c.4558A>G (p.Met1520Val)
c.4861A>G (p.Met1621Val)
c.4858A>G (p.Met1620Val)
c.4567A>G (p.Met1523Val)
dbSNP gnomAD v4
3g.38698368T>GCA352155414SCN10Ac.4852A>C (p.Met1618Leu)
c.4849A>C (p.Met1617Leu)
c.4876A>C (p.Met1626Leu)
c.4558A>C (p.Met1520Leu)
c.4861A>C (p.Met1621Leu)
c.4858A>C (p.Met1620Leu)
c.4567A>C (p.Met1523Leu)
ClinVar dbSNP gnomAD v4
3g.38698368T=CA1358627862SCN10Ac.4852A= (p.Met1618=)
c.4849A= (p.Met1617=)
c.4876A= (p.Met1626=)
c.4558A= (p.Met1520=)
c.4861A= (p.Met1621=)
c.4858A= (p.Met1620=)
c.4567A= (p.Met1523=)
3g.38698369G>ACA2319795SCN10Ac.4851C>T (p.Val1617=)
c.4848C>T (p.Val1616=)
c.4875C>T (p.Val1625=)
c.4557C>T (p.Val1519=)
c.4860C>T (p.Val1620=)
c.4857C>T (p.Val1619=)
c.4566C>T (p.Val1522=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38698369G>CCA433334138SCN10Ac.4851C>G (p.Val1617=)
c.4848C>G (p.Val1616=)
c.4875C>G (p.Val1625=)
c.4557C>G (p.Val1519=)
c.4860C>G (p.Val1620=)
c.4857C>G (p.Val1619=)
c.4566C>G (p.Val1522=)
3g.38698369G=CA1358627863SCN10Ac.4851C= (p.Val1617=)
c.4848C= (p.Val1616=)
c.4875C= (p.Val1625=)
c.4557C= (p.Val1519=)
c.4860C= (p.Val1620=)
c.4857C= (p.Val1619=)
c.4566C= (p.Val1522=)
3g.38698369G>TCA433334139SCN10Ac.4851C>A (p.Val1617=)
c.4848C>A (p.Val1616=)
c.4875C>A (p.Val1625=)
c.4557C>A (p.Val1519=)
c.4860C>A (p.Val1620=)
c.4857C>A (p.Val1619=)
c.4566C>A (p.Val1522=)
3g.38698370A>CCA352155416SCN10Ac.4850T>G (p.Val1617Gly)
c.4847T>G (p.Val1616Gly)
c.4874T>G (p.Val1625Gly)
c.4556T>G (p.Val1519Gly)
c.4859T>G (p.Val1620Gly)
c.4856T>G (p.Val1619Gly)
c.4565T>G (p.Val1522Gly)
3g.38698370A>GCA352155418SCN10Ac.4850T>C (p.Val1617Ala)
c.4847T>C (p.Val1616Ala)
c.4874T>C (p.Val1625Ala)
c.4556T>C (p.Val1519Ala)
c.4859T>C (p.Val1620Ala)
c.4856T>C (p.Val1619Ala)
c.4565T>C (p.Val1522Ala)
3g.38698370A>TCA352155419SCN10Ac.4850T>A (p.Val1617Asp)
c.4847T>A (p.Val1616Asp)
c.4874T>A (p.Val1625Asp)
c.4556T>A (p.Val1519Asp)
c.4859T>A (p.Val1620Asp)
c.4856T>A (p.Val1619Asp)
c.4565T>A (p.Val1522Asp)
3g.38698371C>ACA2319796SCN10Ac.4849G>T (p.Val1617Phe)
c.4846G>T (p.Val1616Phe)
c.4873G>T (p.Val1625Phe)
c.4555G>T (p.Val1519Phe)
c.4858G>T (p.Val1620Phe)
c.4855G>T (p.Val1619Phe)
c.4564G>T (p.Val1522Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38698371C=CA1358627864SCN10Ac.4849G= (p.Val1617=)
c.4846G= (p.Val1616=)
c.4873G= (p.Val1625=)
c.4555G= (p.Val1519=)
c.4858G= (p.Val1620=)
c.4855G= (p.Val1619=)
c.4564G= (p.Val1522=)
3g.38698371C>GCA352155423SCN10Ac.4849G>C (p.Val1617Leu)
c.4846G>C (p.Val1616Leu)
c.4873G>C (p.Val1625Leu)
c.4555G>C (p.Val1519Leu)
c.4858G>C (p.Val1620Leu)
c.4855G>C (p.Val1619Leu)
c.4564G>C (p.Val1522Leu)
3g.38698371C>TCA352155424SCN10Ac.4849G>A (p.Val1617Ile)
c.4846G>A (p.Val1616Ile)
c.4873G>A (p.Val1625Ile)
c.4555G>A (p.Val1519Ile)
c.4858G>A (p.Val1620Ile)
c.4855G>A (p.Val1619Ile)
c.4564G>A (p.Val1522Ile)

Number of alleles fetched