Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.23215148T>ACA494459619SCNN1Gc.1629T>A (p.Val543=)
16g.23215148T>CCA494459620SCNN1Gc.1629T>C (p.Val543=)
16g.23215148T>GCA494459621SCNN1Gc.1629T>G (p.Val543=)
16g.23215149G>ACA395103322SCNN1Gc.1630G>A (p.Val544Ile)
dbSNP gnomAD v3 gnomAD v4
16g.23215149G>CCA7959947SCNN1Gc.1630G>C (p.Val544Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215149G=CA2213236465SCNN1Gc.1630G= (p.Val544=)
16g.23215149G>TCA395103323SCNN1Gc.1630G>T (p.Val544Phe)
dbSNP
16g.23215150T>ACA395103324SCNN1Gc.1631T>A (p.Val544Asp)
16g.23215150T>CCA395103325SCNN1Gc.1631T>C (p.Val544Ala)
16g.23215150T>GCA395103326SCNN1Gc.1631T>G (p.Val544Gly)
16g.23215151C>ACA494459627SCNN1Gc.1632C>A (p.Val544=)
16g.23215151C=CA2213236469SCNN1Gc.1632C= (p.Val544=)
16g.23215151C>GCA494459625SCNN1Gc.1632C>G (p.Val544=)
16g.23215151C>TCA494459626SCNN1Gc.1632C>T (p.Val544=)
dbSNP gnomAD v3 gnomAD v4
16g.23215152T>ACA395103327SCNN1Gc.1633T>A (p.Cys545Ser)
16g.23215152T>CCA395103328SCNN1Gc.1633T>C (p.Cys545Arg)
16g.23215152T>GCA395103329SCNN1Gc.1633T>G (p.Cys545Gly)
16g.23215153G>ACA395103330SCNN1Gc.1634G>A (p.Cys545Tyr)
16g.23215153G>CCA395103331SCNN1Gc.1634G>C (p.Cys545Ser)
16g.23215153G>TCA395103332SCNN1Gc.1634G>T (p.Cys545Phe)
16g.23215154C>ACA395103334SCNN1Gc.1635C>A (p.Cys545Ter)
16g.23215154C=CA2213236638SCNN1Gc.1635C= (p.Cys545=)
16g.23215154C>GCA395103333SCNN1Gc.1635C>G (p.Cys545Trp)
16g.23215154C>TCA7959948SCNN1Gc.1635C>T (p.Cys545=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.23215155G>ACA7959949SCNN1Gc.1636G>A (p.Val546Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.23215155G>CCA395103335SCNN1Gc.1636G>C (p.Val546Leu)
gnomAD v4 COSMIC
16g.23215155G=CA2213236643SCNN1Gc.1636G= (p.Val546=)
16g.23215155G>TCA395103336SCNN1Gc.1636G>T (p.Val546Phe)
16g.23215156T>ACA395103337SCNN1Gc.1637T>A (p.Val546Asp)
16g.23215156T>CCA395103338SCNN1Gc.1637T>C (p.Val546Ala)
16g.23215156T>GCA395103339SCNN1Gc.1637T>G (p.Val546Gly)
16g.23215157C>ACA494459631SCNN1Gc.1638C>A (p.Val546=)
16g.23215157C>GCA494459632SCNN1Gc.1638C>G (p.Val546=)
16g.23215157C>TCA494459634SCNN1Gc.1638C>T (p.Val546=)
gnomAD v4
16g.23215158A>CCA395103340SCNN1Gc.1639A>C (p.Ile547Leu)
16g.23215158A>GCA395103341SCNN1Gc.1639A>G (p.Ile547Val)
16g.23215158A>TCA395103342SCNN1Gc.1639A>T (p.Ile547Phe)
16g.23215159T>ACA395103343SCNN1Gc.1640T>A (p.Ile547Asn)
16g.23215159T>CCA395103344SCNN1Gc.1640T>C (p.Ile547Thr)
16g.23215159T>GCA395103345SCNN1Gc.1640T>G (p.Ile547Ser)
16g.23215160C>ACA494459636SCNN1Gc.1641C>A (p.Ile547=)
16g.23215160C=CA2213236647SCNN1Gc.1641C= (p.Ile547=)
16g.23215160C>GCA395103346SCNN1Gc.1641C>G (p.Ile547Met)
dbSNP
16g.23215160C>TCA494459637SCNN1Gc.1641C>T (p.Ile547=)
dbSNP gnomAD v3 gnomAD v4
16g.23215161G>ACA395103348SCNN1Gc.1642G>A (p.Glu548Lys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.23215161G>CCA395103349SCNN1Gc.1642G>C (p.Glu548Gln)
16g.23215161G=CA2213236652SCNN1Gc.1642G= (p.Glu548=)
16g.23215161G>TCA395103347SCNN1Gc.1642G>T (p.Glu548Ter)
16g.23215162A>CCA395103350SCNN1Gc.1643A>C (p.Glu548Ala)
16g.23215162A>GCA395103352SCNN1Gc.1643A>G (p.Glu548Gly)
16g.23215162A>TCA395103351SCNN1Gc.1643A>T (p.Glu548Val)
16g.23215163G>ACA494459641SCNN1Gc.1644G>A (p.Glu548=)
16g.23215163G>CCA395103353SCNN1Gc.1644G>C (p.Glu548Asp)
16g.23215163G>TCA395103354SCNN1Gc.1644G>T (p.Glu548Asp)
16g.23215164A>CCA395103355SCNN1Gc.1645A>C (p.Ile549Leu)
16g.23215164A>GCA395103356SCNN1Gc.1645A>G (p.Ile549Val)
gnomAD v4
16g.23215164A>TCA395103357SCNN1Gc.1645A>T (p.Ile549Phe)
16g.23215165T>ACA395103358SCNN1Gc.1646T>A (p.Ile549Asn)
16g.23215165T>CCA395103359SCNN1Gc.1646T>C (p.Ile549Thr)
dbSNP gnomAD v2 gnomAD v4
16g.23215165T>GCA395103360SCNN1Gc.1646T>G (p.Ile549Ser)
16g.23215165T=CA2213236660SCNN1Gc.1646T= (p.Ile549=)
16g.23215166C>ACA494459643SCNN1Gc.1647C>A (p.Ile549=)
16g.23215166C>GCA395103361SCNN1Gc.1647C>G (p.Ile549Met)
16g.23215166C>TCA494459644SCNN1Gc.1647C>T (p.Ile549=)
COSMIC
16g.23215167A=CA2213236667SCNN1Gc.1648A= (p.Ile550=)
16g.23215167A>CCA395103362SCNN1Gc.1648A>C (p.Ile550Leu)
16g.23215167A>GCA395103363SCNN1Gc.1648A>G (p.Ile550Val)
gnomAD v4
16g.23215167A>TCA7959950SCNN1Gc.1648A>T (p.Ile550Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215168T>ACA395103364SCNN1Gc.1649T>A (p.Ile550Asn)
16g.23215168T>CCA395103365SCNN1Gc.1649T>C (p.Ile550Thr)
16g.23215168T>GCA395103366SCNN1Gc.1649T>G (p.Ile550Ser)
16g.23215169C>ACA494459648SCNN1Gc.1650C>A (p.Ile550=)
16g.23215169C=CA2213236671SCNN1Gc.1650C= (p.Ile550=)
16g.23215169C>GCA395103367SCNN1Gc.1650C>G (p.Ile550Met)
16g.23215169C>TCA7959951SCNN1Gc.1650C>T (p.Ile550=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.23215170G>ACA395103368SCNN1Gc.1651G>A (p.Glu551Lys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.23215170G>CCA395103369SCNN1Gc.1651G>C (p.Glu551Gln)
16g.23215170G=CA2213236675SCNN1Gc.1651G= (p.Glu551=)
16g.23215170G>TCA395103370SCNN1Gc.1651G>T (p.Glu551Ter)
16g.23215171A>CCA395103371SCNN1Gc.1652A>C (p.Glu551Ala)
16g.23215171A>GCA395103372SCNN1Gc.1652A>G (p.Glu551Gly)
16g.23215171A>TCA395103373SCNN1Gc.1652A>T (p.Glu551Val)
16g.23215172G>ACA494459650SCNN1Gc.1653G>A (p.Glu551=)
gnomAD v4
16g.23215172G>CCA395103374SCNN1Gc.1653G>C (p.Glu551Asp)
16g.23215172G>TCA395103375SCNN1Gc.1653G>T (p.Glu551Asp)
gnomAD v4
16g.23215173G>ACA395103376SCNN1Gc.1654G>A (p.Val552Ile)
ClinVar dbSNP gnomAD v4
16g.23215173G>CCA395103378SCNN1Gc.1654G>C (p.Val552Leu)
16g.23215173G>TCA395103377SCNN1Gc.1654G>T (p.Val552Phe)
16g.23215174T>ACA395103379SCNN1Gc.1655T>A (p.Val552Asp)
16g.23215174T>CCA395103380SCNN1Gc.1655T>C (p.Val552Ala)
16g.23215174T>GCA395103381SCNN1Gc.1655T>G (p.Val552Gly)
16g.23215175C>ACA7959952SCNN1Gc.1656C>A (p.Val552=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215175C=CA2213236679SCNN1Gc.1656C= (p.Val552=)
16g.23215175C>GCA494459651SCNN1Gc.1656C>G (p.Val552=)
16g.23215175C>TCA494459652SCNN1Gc.1656C>T (p.Val552=)
dbSNP gnomAD v4
16g.23215176T>ACA395103382SCNN1Gc.1657T>A (p.Phe553Ile)
16g.23215176T>CCA395103384SCNN1Gc.1657T>C (p.Phe553Leu)
16g.23215176T>GCA395103383SCNN1Gc.1657T>G (p.Phe553Val)
16g.23215177T>ACA395103385SCNN1Gc.1658T>A (p.Phe553Tyr)
16g.23215177T>CCA395103386SCNN1Gc.1658T>C (p.Phe553Ser)
16g.23215177T>GCA395103387SCNN1Gc.1658T>G (p.Phe553Cys)
16g.23215178C>ACA395103388SCNN1Gc.1659C>A (p.Phe553Leu)
16g.23215178C>GCA395103389SCNN1Gc.1659C>G (p.Phe553Leu)
16g.23215178C>TCA494459654SCNN1Gc.1659C>T (p.Phe553=)
16g.23215179T>ACA395103390SCNN1Gc.1660T>A (p.Phe554Ile)
16g.23215179T>CCA7959954SCNN1Gc.1660T>C (p.Phe554Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215179T>GCA7959953SCNN1Gc.1660T>G (p.Phe554Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215179T=CA2213236686SCNN1Gc.1660T= (p.Phe554=)
16g.23215180delCA2632291775SCNN1Gc.1661del (p.Phe554SerfsTer?)
gnomAD v4
16g.23215180T>ACA395103391SCNN1Gc.1661T>A (p.Phe554Tyr)
16g.23215180T>CCA395103392SCNN1Gc.1661T>C (p.Phe554Ser)
16g.23215180T>GCA395103393SCNN1Gc.1661T>G (p.Phe554Cys)
16g.23215181C>ACA395103394SCNN1Gc.1662C>A (p.Phe554Leu)
16g.23215181C>GCA395103395SCNN1Gc.1662C>G (p.Phe554Leu)
16g.23215181C>TCA494459655SCNN1Gc.1662C>T (p.Phe554=)
16g.23215182A>CCA395103398SCNN1Gc.1663A>C (p.Ile555Leu)
16g.23215182A>GCA395103396SCNN1Gc.1663A>G (p.Ile555Val)
16g.23215182A>TCA395103397SCNN1Gc.1663A>T (p.Ile555Phe)
16g.23215183T>ACA395103399SCNN1Gc.1664T>A (p.Ile555Asn)
16g.23215183T>CCA395103400SCNN1Gc.1664T>C (p.Ile555Thr)
16g.23215183T>GCA395103401SCNN1Gc.1664T>G (p.Ile555Ser)
16g.23215184T>ACA494459659SCNN1Gc.1665T>A (p.Ile555=)
16g.23215184T>CCA494459660SCNN1Gc.1665T>C (p.Ile555=)
dbSNP
16g.23215184T>GCA395103402SCNN1Gc.1665T>G (p.Ile555Met)
16g.23215185G>ACA395103403SCNN1Gc.1666G>A (p.Asp556Asn)
16g.23215185G>CCA395103404SCNN1Gc.1666G>C (p.Asp556His)
16g.23215185G>TCA395103405SCNN1Gc.1666G>T (p.Asp556Tyr)
16g.23215186A>CCA395103406SCNN1Gc.1667A>C (p.Asp556Ala)
16g.23215186A>GCA395103407SCNN1Gc.1667A>G (p.Asp556Gly)
16g.23215186A>TCA395103408SCNN1Gc.1667A>T (p.Asp556Val)
16g.23215187C>ACA395103409SCNN1Gc.1668C>A (p.Asp556Glu)
16g.23215187C=CA2213236694SCNN1Gc.1668C= (p.Asp556=)
16g.23215187C>GCA395103410SCNN1Gc.1668C>G (p.Asp556Glu)
16g.23215187C>TCA494459663SCNN1Gc.1668C>T (p.Asp556=)
dbSNP gnomAD v3 gnomAD v4
16g.23215188T>ACA395103411SCNN1Gc.1669T>A (p.Phe557Ile)
gnomAD v4
16g.23215188T>CCA395103413SCNN1Gc.1669T>C (p.Phe557Leu)
dbSNP gnomAD v3 gnomAD v4
16g.23215188T>GCA395103412SCNN1Gc.1669T>G (p.Phe557Val)
16g.23215188T=CA2213236700SCNN1Gc.1669T= (p.Phe557=)
16g.23215189T>ACA395103414SCNN1Gc.1670T>A (p.Phe557Tyr)
16g.23215189T>CCA395103416SCNN1Gc.1670T>C (p.Phe557Ser)
16g.23215189T>GCA395103415SCNN1Gc.1670T>G (p.Phe557Cys)
dbSNP
16g.23215189T=CA2213236705SCNN1Gc.1670T= (p.Phe557=)
16g.23215190C>ACA395103417SCNN1Gc.1671C>A (p.Phe557Leu)
COSMIC
16g.23215190C>GCA395103418SCNN1Gc.1671C>G (p.Phe557Leu)
16g.23215190C>TCA494459665SCNN1Gc.1671C>T (p.Phe557=)
16g.23215191T>ACA395103419SCNN1Gc.1672T>A (p.Phe558Ile)
dbSNP gnomAD v2 gnomAD v4
16g.23215191T>CCA395103420SCNN1Gc.1672T>C (p.Phe558Leu)
16g.23215191T>GCA395103421SCNN1Gc.1672T>G (p.Phe558Val)
gnomAD v4
16g.23215191T=CA2213236708SCNN1Gc.1672T= (p.Phe558=)
16g.23215192T>ACA395103422SCNN1Gc.1673T>A (p.Phe558Tyr)
16g.23215192T>CCA395103423SCNN1Gc.1673T>C (p.Phe558Ser)
16g.23215192T>GCA395103424SCNN1Gc.1673T>G (p.Phe558Cys)
16g.23215193C>ACA395103425SCNN1Gc.1674C>A (p.Phe558Leu)
gnomAD v4
16g.23215193C=CA2213236712SCNN1Gc.1674C= (p.Phe558=)
16g.23215193C>GCA395103426SCNN1Gc.1674C>G (p.Phe558Leu)
16g.23215193C>TCA494459668SCNN1Gc.1674C>T (p.Phe558=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.23215194T>ACA395103427SCNN1Gc.1675T>A (p.Ser559Thr)
16g.23215194T>CCA395103428SCNN1Gc.1675T>C (p.Ser559Pro)
gnomAD v4
16g.23215194T>GCA395103429SCNN1Gc.1675T>G (p.Ser559Ala)
16g.23215195C>ACA395103430SCNN1Gc.1676C>A (p.Ser559Tyr)
16g.23215195C=CA2213236719SCNN1Gc.1676C= (p.Ser559=)
16g.23215195C>GCA395103432SCNN1Gc.1676C>G (p.Ser559Cys)
dbSNP
16g.23215195C>TCA395103431SCNN1Gc.1676C>T (p.Ser559Phe)
gnomAD v4
16g.23215196T>ACA494459670SCNN1Gc.1677T>A (p.Ser559=)
16g.23215196T>CCA494459671SCNN1Gc.1677T>C (p.Ser559=)
16g.23215196T>GCA494459672SCNN1Gc.1677T>G (p.Ser559=)
16g.23215197A>CCA395103433SCNN1Gc.1678A>C (p.Ile560Leu)
16g.23215197A>GCA395103434SCNN1Gc.1678A>G (p.Ile560Val)
gnomAD v4
16g.23215197A>TCA395103435SCNN1Gc.1678A>T (p.Ile560Phe)
16g.23215198T>ACA395103436SCNN1Gc.1679T>A (p.Ile560Asn)
16g.23215198T>CCA395103437SCNN1Gc.1679T>C (p.Ile560Thr)
16g.23215198T>GCA395103438SCNN1Gc.1679T>G (p.Ile560Ser)
dbSNP gnomAD v3 gnomAD v4
16g.23215198T=CA2213236725SCNN1Gc.1679T= (p.Ile560=)
16g.23215199C>ACA494459675SCNN1Gc.1680C>A (p.Ile560=)
gnomAD v4
16g.23215199C>GCA395103439SCNN1Gc.1680C>G (p.Ile560Met)
gnomAD v4
16g.23215199C>TCA494459676SCNN1Gc.1680C>T (p.Ile560=)
16g.23215200A=CA2213236731SCNN1Gc.1681A= (p.Ile561=)
16g.23215200A>CCA395103440SCNN1Gc.1681A>C (p.Ile561Leu)
16g.23215200A>GCA7959955SCNN1Gc.1681A>G (p.Ile561Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215200A>TCA395103441SCNN1Gc.1681A>T (p.Ile561Phe)
16g.23215201T>ACA395103444SCNN1Gc.1682T>A (p.Ile561Asn)
16g.23215201T>CCA395103443SCNN1Gc.1682T>C (p.Ile561Thr)
dbSNP
16g.23215201T>GCA395103442SCNN1Gc.1682T>G (p.Ile561Ser)
16g.23215201T=CA2213236736SCNN1Gc.1682T= (p.Ile561=)
16g.23215202T>ACA494459677SCNN1Gc.1683T>A (p.Ile561=)
16g.23215202T>CCA494459678SCNN1Gc.1683T>C (p.Ile561=)
16g.23215202T>GCA395103445SCNN1Gc.1683T>G (p.Ile561Met)
16g.23215203G>ACA395103446SCNN1Gc.1684G>A (p.Ala562Thr)
16g.23215203G>CCA395103447SCNN1Gc.1684G>C (p.Ala562Pro)
dbSNP
16g.23215203G=CA2213236738SCNN1Gc.1684G= (p.Ala562=)
16g.23215203G>TCA395103448SCNN1Gc.1684G>T (p.Ala562Ser)
16g.23215204C>ACA395103449SCNN1Gc.1685C>A (p.Ala562Asp)
16g.23215204C=CA2213236746SCNN1Gc.1685C= (p.Ala562=)
16g.23215204C>GCA395103450SCNN1Gc.1685C>G (p.Ala562Gly)
16g.23215204C>TCA7959956SCNN1Gc.1685C>T (p.Ala562Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.23215205C>ACA494459680SCNN1Gc.1686C>A (p.Ala562=)
16g.23215205C=CA2213236749SCNN1Gc.1686C= (p.Ala562=)
16g.23215205C>GCA494459681SCNN1Gc.1686C>G (p.Ala562=)
16g.23215205C>TCA494459682SCNN1Gc.1686C>T (p.Ala562=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.23215206C>ACA395103451SCNN1Gc.1687C>A (p.Arg563Ser)
16g.23215206C=CA2213236753SCNN1Gc.1687C= (p.Arg563=)
16g.23215206C>GCA395103452SCNN1Gc.1687C>G (p.Arg563Gly)
16g.23215206C>TCA395103453SCNN1Gc.1687C>T (p.Arg563Cys)
dbSNP gnomAD v4
16g.23215207G>ACA279470779SCNN1Gc.1688G>A (p.Arg563His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.23215207G>CCA395103454SCNN1Gc.1688G>C (p.Arg563Pro)
16g.23215207G=CA2213236757SCNN1Gc.1688G= (p.Arg563=)
16g.23215207G>TCA395103455SCNN1Gc.1688G>T (p.Arg563Leu)
16g.23215208_23215214delCA2632291776SCNN1Gc.1689_1695del (p.Arg564GlyfsTer?)
gnomAD v4
16g.23215208C>ACA494459684SCNN1Gc.1689C>A (p.Arg563=)
16g.23215208C>GCA494459685SCNN1Gc.1689C>G (p.Arg563=)
16g.23215208C>TCA494459686SCNN1Gc.1689C>T (p.Arg563=)
16g.23215209C>ACA395103457SCNN1Gc.1690C>A (p.Arg564Ser)
16g.23215209C=CA2213236762SCNN1Gc.1690C= (p.Arg564=)
16g.23215209C>GCA395103456SCNN1Gc.1690C>G (p.Arg564Gly)
16g.23215209C>TCA7959957SCNN1Gc.1690C>T (p.Arg564Cys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.23215210G>ACA7959958SCNN1Gc.1691G>A (p.Arg564His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.23215210G>CCA395103458SCNN1Gc.1691G>C (p.Arg564Pro)
16g.23215210G=CA2213236768SCNN1Gc.1691G= (p.Arg564=)
16g.23215210G>TCA395103459SCNN1Gc.1691G>T (p.Arg564Leu)
16g.23215211C>ACA494459687SCNN1Gc.1692C>A (p.Arg564=)
dbSNP gnomAD v4
16g.23215211C=CA2213236771SCNN1Gc.1692C= (p.Arg564=)
16g.23215211C>GCA494459688SCNN1Gc.1692C>G (p.Arg564=)
dbSNP
16g.23215211C>TCA494459689SCNN1Gc.1692C>T (p.Arg564=)
16g.23215212C>ACA395103460SCNN1Gc.1693C>A (p.Gln565Lys)
16g.23215212C>GCA395103461SCNN1Gc.1693C>G (p.Gln565Glu)
16g.23215212C>TCA395103462SCNN1Gc.1693C>T (p.Gln565Ter)
16g.23215213A=CA2213236772SCNN1Gc.1694A= (p.Gln565=)
16g.23215213A>CCA395103463SCNN1Gc.1694A>C (p.Gln565Pro)
gnomAD v4
16g.23215213A>GCA395103464SCNN1Gc.1694A>G (p.Gln565Arg)
dbSNP gnomAD v3 gnomAD v4
16g.23215213A>TCA395103465SCNN1Gc.1694A>T (p.Gln565Leu)
16g.23215214G>ACA494459690SCNN1Gc.1695G>A (p.Gln565=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.23215214G>CCA395103466SCNN1Gc.1695G>C (p.Gln565His)
16g.23215214G=CA2213236778SCNN1Gc.1695G= (p.Gln565=)
16g.23215214G>TCA395103467SCNN1Gc.1695G>T (p.Gln565His)
16g.23215215T>ACA395103468SCNN1Gc.1696T>A (p.Trp566Arg)
16g.23215215T>CCA395103470SCNN1Gc.1696T>C (p.Trp566Arg)
16g.23215215T>GCA395103469SCNN1Gc.1696T>G (p.Trp566Gly)
16g.23215216G>ACA395103471SCNN1Gc.1697G>A (p.Trp566Ter)
ClinVar dbSNP
16g.23215216G>CCA395103473SCNN1Gc.1697G>C (p.Trp566Ser)
16g.23215216G=CA2213236783SCNN1Gc.1697G= (p.Trp566=)
16g.23215216G>TCA395103472SCNN1Gc.1697G>T (p.Trp566Leu)
16g.23215217G>ACA395103474SCNN1Gc.1698G>A (p.Trp566Ter)
dbSNP gnomAD v4 COSMIC
16g.23215217G>CCA395103476SCNN1Gc.1698G>C (p.Trp566Cys)
16g.23215217G=CA2213236786SCNN1Gc.1698G= (p.Trp566=)
16g.23215217G>TCA395103475SCNN1Gc.1698G>T (p.Trp566Cys)
16g.23215218C>ACA395103477SCNN1Gc.1699C>A (p.Gln567Lys)
16g.23215218C>GCA395103478SCNN1Gc.1699C>G (p.Gln567Glu)
16g.23215218C>TCA395103479SCNN1Gc.1699C>T (p.Gln567Ter)
ClinVar dbSNP
16g.23215219A>CCA395103480SCNN1Gc.1700A>C (p.Gln567Pro)
16g.23215219A>GCA395103481SCNN1Gc.1700A>G (p.Gln567Arg)
16g.23215219A>TCA395103482SCNN1Gc.1700A>T (p.Gln567Leu)
16g.23215220G>ACA494459695SCNN1Gc.1701G>A (p.Gln567=)
COSMIC
16g.23215220G>CCA395103483SCNN1Gc.1701G>C (p.Gln567His)
16g.23215220G>TCA395103484SCNN1Gc.1701G>T (p.Gln567His)
16g.23215221A>CCA395103485SCNN1Gc.1702A>C (p.Lys568Gln)
16g.23215221A>GCA395103486SCNN1Gc.1702A>G (p.Lys568Glu)
16g.23215221A>TCA395103487SCNN1Gc.1702A>T (p.Lys568Ter)
16g.23215222A>CCA395103490SCNN1Gc.1703A>C (p.Lys568Thr)
16g.23215222A>GCA395103489SCNN1Gc.1703A>G (p.Lys568Arg)
gnomAD v4
16g.23215222A>TCA395103488SCNN1Gc.1703A>T (p.Lys568Ile)
16g.23215223A>CCA395103491SCNN1Gc.1704A>C (p.Lys568Asn)
COSMIC
16g.23215223A>GCA494459696SCNN1Gc.1704A>G (p.Lys568=)
16g.23215223A>TCA395103492SCNN1Gc.1704A>T (p.Lys568Asn)
16g.23215224G>ACA395103493SCNN1Gc.1705G>A (p.Ala569Thr)
dbSNP gnomAD v3 gnomAD v4
16g.23215224G>CCA395103494SCNN1Gc.1705G>C (p.Ala569Pro)
16g.23215224G=CA2213236791SCNN1Gc.1705G= (p.Ala569=)
16g.23215224G>TCA395103495SCNN1Gc.1705G>T (p.Ala569Ser)
16g.23215225C>ACA395103496SCNN1Gc.1706C>A (p.Ala569Asp)
COSMIC
16g.23215225C=CA2213236800SCNN1Gc.1706C= (p.Ala569=)
16g.23215225C>GCA395103497SCNN1Gc.1706C>G (p.Ala569Gly)
dbSNP gnomAD v2 gnomAD v4
16g.23215225C>TCA395103498SCNN1Gc.1706C>T (p.Ala569Val)
gnomAD v4
16g.23215226C>ACA494459703SCNN1Gc.1707C>A (p.Ala569=)
16g.23215226C>GCA494459701SCNN1Gc.1707C>G (p.Ala569=)
16g.23215226C>TCA494459700SCNN1Gc.1707C>T (p.Ala569=)
gnomAD v4
16g.23215227A>CCA395103499SCNN1Gc.1708A>C (p.Lys570Gln)
16g.23215227A>GCA395103500SCNN1Gc.1708A>G (p.Lys570Glu)
16g.23215227A>TCA395103501SCNN1Gc.1708A>T (p.Lys570Ter)
16g.23215228A>CCA395103504SCNN1Gc.1709A>C (p.Lys570Thr)
16g.23215228A>GCA395103503SCNN1Gc.1709A>G (p.Lys570Arg)
16g.23215228A>TCA395103502SCNN1Gc.1709A>T (p.Lys570Met)
16g.23215229G>ACA7959959SCNN1Gc.1710G>A (p.Lys570=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.23215229G>CCA395103505SCNN1Gc.1710G>C (p.Lys570Asn)
gnomAD v4
16g.23215229G=CA2213236808SCNN1Gc.1710G= (p.Lys570=)
16g.23215229G>TCA395103506SCNN1Gc.1710G>T (p.Lys570Asn)
16g.23215230G>ACA395103507SCNN1Gc.1711G>A (p.Glu571Lys)
dbSNP gnomAD v2 gnomAD v4
16g.23215230G>CCA395103508SCNN1Gc.1711G>C (p.Glu571Gln)
16g.23215230G=CA2213236811SCNN1Gc.1711G= (p.Glu571=)
16g.23215230G>TCA395103509SCNN1Gc.1711G>T (p.Glu571Ter)
16g.23215231A>CCA395103510SCNN1Gc.1712A>C (p.Glu571Ala)
16g.23215231A>GCA395103511SCNN1Gc.1712A>G (p.Glu571Gly)
16g.23215231A>TCA395103512SCNN1Gc.1712A>T (p.Glu571Val)
gnomAD v4
16g.23215232G>ACA494459708SCNN1Gc.1713G>A (p.Glu571=)
16g.23215232G>CCA395103513SCNN1Gc.1713G>C (p.Glu571Asp)
dbSNP gnomAD v3 gnomAD v4
16g.23215232G=CA2213236812SCNN1Gc.1713G= (p.Glu571=)
16g.23215232G>TCA395103514SCNN1Gc.1713G>T (p.Glu571Asp)
gnomAD v4
16g.23215233T>ACA395103515SCNN1Gc.1714T>A (p.Trp572Arg)
16g.23215233T>CCA279470795SCNN1Gc.1714T>C (p.Trp572Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.23215233T>GCA7959960SCNN1Gc.1714T>G (p.Trp572Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215233T=CA2213236818SCNN1Gc.1714T= (p.Trp572=)
16g.23215234G>ACA395103516SCNN1Gc.1715G>A (p.Trp572Ter)
16g.23215234G>CCA395103517SCNN1Gc.1715G>C (p.Trp572Ser)
16g.23215234G>TCA395103518SCNN1Gc.1715G>T (p.Trp572Leu)
COSMIC
16g.23215235G>ACA395103519SCNN1Gc.1716G>A (p.Trp572Ter)
16g.23215235G>CCA395103520SCNN1Gc.1716G>C (p.Trp572Cys)
gnomAD v4
16g.23215235G=CA2213236823SCNN1Gc.1716G= (p.Trp572=)
16g.23215235G>TCA395103521SCNN1Gc.1716G>T (p.Trp572Cys)
dbSNP gnomAD v2 gnomAD v4
16g.23215236T>ACA395103522SCNN1Gc.1717T>A (p.Trp573Arg)
16g.23215236T>CCA395103523SCNN1Gc.1717T>C (p.Trp573Arg)
16g.23215236T>GCA395103524SCNN1Gc.1717T>G (p.Trp573Gly)
16g.23215237G>ACA119950SCNN1Gc.1718G>A (p.Trp573Ter)
ClinVar dbSNP
16g.23215237G>CCA395103525SCNN1Gc.1718G>C (p.Trp573Ser)
16g.23215237G=CA2213236827SCNN1Gc.1718G= (p.Trp573=)
16g.23215237G>TCA395103526SCNN1Gc.1718G>T (p.Trp573Leu)
16g.23215238G>ACA395103529SCNN1Gc.1719G>A (p.Trp573Ter)
16g.23215238G>CCA395103528SCNN1Gc.1719G>C (p.Trp573Cys)
16g.23215238G>TCA395103527SCNN1Gc.1719G>T (p.Trp573Cys)
16g.23215239G>ACA395103530SCNN1Gc.1720G>A (p.Ala574Thr)
gnomAD v4
16g.23215239G>CCA395103532SCNN1Gc.1720G>C (p.Ala574Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.23215239G=CA2213236834SCNN1Gc.1720G= (p.Ala574=)
16g.23215239G>TCA395103531SCNN1Gc.1720G>T (p.Ala574Ser)
gnomAD v4
16g.23215240C>ACA395103533SCNN1Gc.1721C>A (p.Ala574Asp)
gnomAD v4
16g.23215240C>GCA395103534SCNN1Gc.1721C>G (p.Ala574Gly)
16g.23215240C>TCA395103535SCNN1Gc.1721C>T (p.Ala574Val)
COSMIC
16g.23215241C>ACA494459715SCNN1Gc.1722C>A (p.Ala574=)
16g.23215241C>GCA494459713SCNN1Gc.1722C>G (p.Ala574=)
16g.23215241C>TCA494459712SCNN1Gc.1722C>T (p.Ala574=)
16g.23215242T>ACA395103536SCNN1Gc.1723T>A (p.Trp575Arg)
16g.23215242T>CCA395103537SCNN1Gc.1723T>C (p.Trp575Arg)
dbSNP gnomAD v2
16g.23215242T>GCA395103538SCNN1Gc.1723T>G (p.Trp575Gly)
16g.23215242T=CA2213236837SCNN1Gc.1723T= (p.Trp575=)
16g.23215243G>ACA395103539SCNN1Gc.1724G>A (p.Trp575Ter)
16g.23215243G>CCA395103540SCNN1Gc.1724G>C (p.Trp575Ser)
ClinVar dbSNP
16g.23215243G=CA2213236844SCNN1Gc.1724G= (p.Trp575=)
16g.23215243G>TCA395103541SCNN1Gc.1724G>T (p.Trp575Leu)
16g.23215244G>ACA395103542SCNN1Gc.1725G>A (p.Trp575Ter)
16g.23215244G>CCA395103543SCNN1Gc.1725G>C (p.Trp575Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.23215244G=CA2213236850SCNN1Gc.1725G= (p.Trp575=)
16g.23215244G>TCA395103544SCNN1Gc.1725G>T (p.Trp575Cys)
16g.23215245A>CCA395103545SCNN1Gc.1726A>C (p.Lys576Gln)
16g.23215245A>GCA395103547SCNN1Gc.1726A>G (p.Lys576Glu)
16g.23215245A>TCA395103546SCNN1Gc.1726A>T (p.Lys576Ter)
16g.23215246A>CCA395103548SCNN1Gc.1727A>C (p.Lys576Thr)
16g.23215246A>GCA395103549SCNN1Gc.1727A>G (p.Lys576Arg)
16g.23215246A>TCA395103550SCNN1Gc.1727A>T (p.Lys576Ile)
16g.23215247A>CCA395103551SCNN1Gc.1728A>C (p.Lys576Asn)
16g.23215247A>GCA494459718SCNN1Gc.1728A>G (p.Lys576=)
16g.23215247A>TCA395103552SCNN1Gc.1728A>T (p.Lys576Asn)
16g.23215247_23215263delinsACAGGCTCCCCCATGTCCA2213236854SCNN1Gc.1728_1744delinsACAGGCTCCCCCATGTC (p.Lys576=)
16g.23215248C>ACA395103553SCNN1Gc.1729C>A (p.Gln577Lys)
16g.23215248C>GCA395103554SCNN1Gc.1729C>G (p.Gln577Glu)
16g.23215248C>TCA395103555SCNN1Gc.1729C>T (p.Gln577Ter)
gnomAD v4
16g.23215251_23215266delCA7959961SCNN1Gc.1732_1747del (p.Ala578LysfsTer16)
dbSNP ExAC gnomAD v2

Number of alleles fetched