Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
16g.23215249A>CCA395103557SCNN1Gc.1730A>C (p.Gln577Pro)
16g.23215249A>GCA395103558SCNN1Gc.1730A>G (p.Gln577Arg)
gnomAD v4
16g.23215249A>TCA395103556SCNN1Gc.1730A>T (p.Gln577Leu)
16g.23215250G>ACA494459720SCNN1Gc.1731G>A (p.Gln577=)
16g.23215250G>CCA395103559SCNN1Gc.1731G>C (p.Gln577His)
16g.23215250G>TCA395103560SCNN1Gc.1731G>T (p.Gln577His)
16g.23215251G>ACA395103561SCNN1Gc.1732G>A (p.Ala578Thr)
16g.23215251G>CCA395103562SCNN1Gc.1732G>C (p.Ala578Pro)
16g.23215251G>TCA395103563SCNN1Gc.1732G>T (p.Ala578Ser)
COSMIC
16g.23215258_23215275delCA2632291777SCNN1Gc.1739_1756del (p.Pro580_Pro585del)
gnomAD v4
16g.23215252C>ACA395103564SCNN1Gc.1733C>A (p.Ala578Asp)
16g.23215252C>GCA395103565SCNN1Gc.1733C>G (p.Ala578Gly)
COSMIC
16g.23215252C>TCA395103566SCNN1Gc.1733C>T (p.Ala578Val)
16g.23215253T>ACA494459724SCNN1Gc.1734T>A (p.Ala578=)
16g.23215253T>CCA7959962SCNN1Gc.1734T>C (p.Ala578=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215253T>GCA494459725SCNN1Gc.1734T>G (p.Ala578=)
gnomAD v4
16g.23215253T=CA2213236858SCNN1Gc.1734T= (p.Ala578=)
16g.23215254C>ACA395103567SCNN1Gc.1735C>A (p.Pro579Thr)
gnomAD v4
16g.23215254C>GCA395103568SCNN1Gc.1735C>G (p.Pro579Ala)
16g.23215254C>TCA395103569SCNN1Gc.1735C>T (p.Pro579Ser)
gnomAD v4 COSMIC
16g.23215255C>ACA395103571SCNN1Gc.1736C>A (p.Pro579His)
16g.23215255C>GCA395103572SCNN1Gc.1736C>G (p.Pro579Arg)
16g.23215255C>TCA395103570SCNN1Gc.1736C>T (p.Pro579Leu)
gnomAD v4
16g.23215256C>ACA494459726SCNN1Gc.1737C>A (p.Pro579=)
16g.23215256C=CA2213236914SCNN1Gc.1737C= (p.Pro579=)
16g.23215256C>GCA494459727SCNN1Gc.1737C>G (p.Pro579=)
16g.23215256C>TCA7959963SCNN1Gc.1737C>T (p.Pro579=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.23215257C>ACA395103573SCNN1Gc.1738C>A (p.Pro580Thr)
16g.23215257C=CA2213236922SCNN1Gc.1738C= (p.Pro580=)
16g.23215257C>GCA395103574SCNN1Gc.1738C>G (p.Pro580Ala)
16g.23215257C>TCA279470815SCNN1Gc.1738C>T (p.Pro580Ser)
dbSNP gnomAD v2 gnomAD v4
16g.23215258C>ACA395103577SCNN1Gc.1739C>A (p.Pro580Gln)
16g.23215258C>GCA395103576SCNN1Gc.1739C>G (p.Pro580Arg)
16g.23215258C>TCA395103575SCNN1Gc.1739C>T (p.Pro580Leu)
COSMIC
16g.23215259A=CA2213236930SCNN1Gc.1740A= (p.Pro580=)
16g.23215259A>CCA494459730SCNN1Gc.1740A>C (p.Pro580=)
dbSNP
16g.23215259A>GCA279470819SCNN1Gc.1740A>G (p.Pro580=)
dbSNP gnomAD v2 gnomAD v4
16g.23215259A>TCA494459729SCNN1Gc.1740A>T (p.Pro580=)
16g.23215260T>ACA395103578SCNN1Gc.1741T>A (p.Cys581Ser)
16g.23215260T>CCA7959964SCNN1Gc.1741T>C (p.Cys581Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.23215260T>GCA395103579SCNN1Gc.1741T>G (p.Cys581Gly)
16g.23215260T=CA2213236936SCNN1Gc.1741T= (p.Cys581=)
16g.23215261G>ACA395103580SCNN1Gc.1742G>A (p.Cys581Tyr)
dbSNP gnomAD v2 gnomAD v4
16g.23215261G>CCA395103581SCNN1Gc.1742G>C (p.Cys581Ser)
16g.23215261G=CA2213236942SCNN1Gc.1742G= (p.Cys581=)
16g.23215261G>TCA395103582SCNN1Gc.1742G>T (p.Cys581Phe)
dbSNP
16g.23215262T>ACA395103583SCNN1Gc.1743T>A (p.Cys581Ter)
16g.23215262T>CCA494459732SCNN1Gc.1743T>C (p.Cys581=)
dbSNP gnomAD v4
16g.23215262T>GCA395103584SCNN1Gc.1743T>G (p.Cys581Trp)
16g.23215262T=CA2213236951SCNN1Gc.1743T= (p.Cys581=)
16g.23215263C>ACA395103585SCNN1Gc.1744C>A (p.Pro582Thr)
16g.23215263C>GCA395103587SCNN1Gc.1744C>G (p.Pro582Ala)
16g.23215263C>TCA395103586SCNN1Gc.1744C>T (p.Pro582Ser)
16g.23215264C>ACA395103588SCNN1Gc.1745C>A (p.Pro582Gln)
16g.23215264C>GCA395103590SCNN1Gc.1745C>G (p.Pro582Arg)
16g.23215264C>TCA395103589SCNN1Gc.1745C>T (p.Pro582Leu)
16g.23215265A>CCA494459735SCNN1Gc.1746A>C (p.Pro582=)
16g.23215265A>GCA494459736SCNN1Gc.1746A>G (p.Pro582=)
16g.23215265A>TCA494459737SCNN1Gc.1746A>T (p.Pro582=)
16g.23215266G>ACA395103591SCNN1Gc.1747G>A (p.Glu583Lys)
16g.23215266G>CCA395103593SCNN1Gc.1747G>C (p.Glu583Gln)
16g.23215266G>TCA395103592SCNN1Gc.1747G>T (p.Glu583Ter)
COSMIC
16g.23215267A>CCA395103594SCNN1Gc.1748A>C (p.Glu583Ala)
16g.23215267A>GCA395103595SCNN1Gc.1748A>G (p.Glu583Gly)
16g.23215267A>TCA395103596SCNN1Gc.1748A>T (p.Glu583Val)
16g.23215267_23215272delinsAAGCTCCA2213236954SCNN1Gc.1748_1753delinsAAGCTC (p.Glu583=)
16g.23215268A>CCA395103597SCNN1Gc.1749A>C (p.Glu583Asp)
16g.23215268A>GCA494459740SCNN1Gc.1749A>G (p.Glu583=)
16g.23215268A>TCA395103598SCNN1Gc.1749A>T (p.Glu583Asp)
16g.23215268_23215272delCA891844460SCNN1Gc.1749_1753del (p.Glu583AspfsTer3)
ClinVar dbSNP
16g.23215269G>ACA395103599SCNN1Gc.1750G>A (p.Ala584Thr)
16g.23215269G>CCA395103600SCNN1Gc.1750G>C (p.Ala584Pro)
16g.23215269G>TCA395103601SCNN1Gc.1750G>T (p.Ala584Ser)
16g.23215270C>ACA395103602SCNN1Gc.1751C>A (p.Ala584Asp)
16g.23215270C=CA2213236970SCNN1Gc.1751C= (p.Ala584=)
16g.23215270C>GCA395103603SCNN1Gc.1751C>G (p.Ala584Gly)
16g.23215270C>TCA7959965SCNN1Gc.1751C>T (p.Ala584Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.23215271T>ACA494459744SCNN1Gc.1752T>A (p.Ala584=)
16g.23215271T>CCA494459745SCNN1Gc.1752T>C (p.Ala584=)
16g.23215271T>GCA494459746SCNN1Gc.1752T>G (p.Ala584=)
16g.23215272C>ACA7959966SCNN1Gc.1753C>A (p.Pro585Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215272C=CA2213236974SCNN1Gc.1753C= (p.Pro585=)
16g.23215272C>GCA395103604SCNN1Gc.1753C>G (p.Pro585Ala)
16g.23215272C>TCA7959967SCNN1Gc.1753C>T (p.Pro585Ser)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.23215275delCA2573050812SCNN1Gc.1756del (p.Arg586ValfsTer13)
16g.23215273C>ACA395103605SCNN1Gc.1754C>A (p.Pro585His)
16g.23215273C=CA2213236979SCNN1Gc.1754C= (p.Pro585=)
16g.23215273C>GCA395103606SCNN1Gc.1754C>G (p.Pro585Arg)
16g.23215273C>TCA7959968SCNN1Gc.1754C>T (p.Pro585Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.23215274C>ACA494459750SCNN1Gc.1755C>A (p.Pro585=)
16g.23215274C>GCA494459751SCNN1Gc.1755C>G (p.Pro585=)
16g.23215274C>TCA494459752SCNN1Gc.1755C>T (p.Pro585=)
16g.23215275C>ACA395103607SCNN1Gc.1756C>A (p.Arg586Ser)
16g.23215275C=CA2213236987SCNN1Gc.1756C= (p.Arg586=)
16g.23215275C>GCA395103608SCNN1Gc.1756C>G (p.Arg586Gly)
16g.23215275C>TCA7959969SCNN1Gc.1756C>T (p.Arg586Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.23215276G>ACA7959970SCNN1Gc.1757G>A (p.Arg586His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.23215276G>CCA395103609SCNN1Gc.1757G>C (p.Arg586Pro)
dbSNP
16g.23215276G=CA2213236991SCNN1Gc.1757G= (p.Arg586=)
16g.23215276G>TCA395103610SCNN1Gc.1757G>T (p.Arg586Leu)
16g.23215277T>ACA494459755SCNN1Gc.1758T>A (p.Arg586=)
16g.23215277T>CCA494459756SCNN1Gc.1758T>C (p.Arg586=)
16g.23215277T>GCA494459757SCNN1Gc.1758T>G (p.Arg586=)
16g.23215278A>CCA395103613SCNN1Gc.1759A>C (p.Ser587Arg)
16g.23215278A>GCA395103612SCNN1Gc.1759A>G (p.Ser587Gly)
gnomAD v4
16g.23215278A>TCA395103611SCNN1Gc.1759A>T (p.Ser587Cys)
16g.23215279G>ACA395103615SCNN1Gc.1760G>A (p.Ser587Asn)
gnomAD v4
16g.23215279G>CCA395103616SCNN1Gc.1760G>C (p.Ser587Thr)
16g.23215279G>TCA395103618SCNN1Gc.1760G>T (p.Ser587Ile)
16g.23215280C>ACA395103619SCNN1Gc.1761C>A (p.Ser587Arg)
dbSNP gnomAD v2 gnomAD v4
16g.23215280C=CA2213236996SCNN1Gc.1761C= (p.Ser587=)
16g.23215280C>GCA395103620SCNN1Gc.1761C>G (p.Ser587Arg)
16g.23215280C>TCA494459758SCNN1Gc.1761C>T (p.Ser587=)
16g.23215281C>ACA395103621SCNN1Gc.1762C>A (p.Pro588Thr)
16g.23215281C>GCA395103622SCNN1Gc.1762C>G (p.Pro588Ala)
16g.23215281C>TCA395103624SCNN1Gc.1762C>T (p.Pro588Ser)
16g.23215282C>ACA395103626SCNN1Gc.1763C>A (p.Pro588Gln)
COSMIC
16g.23215282C=CA2213236999SCNN1Gc.1763C= (p.Pro588=)
16g.23215282C>GCA395103627SCNN1Gc.1763C>G (p.Pro588Arg)
16g.23215282C>TCA395103629SCNN1Gc.1763C>T (p.Pro588Leu)
dbSNP gnomAD v2 gnomAD v4
16g.23215283A=CA2213237001SCNN1Gc.1764A= (p.Pro588=)
16g.23215283A>CCA494459760SCNN1Gc.1764A>C (p.Pro588=)
16g.23215283A>GCA494459761SCNN1Gc.1764A>G (p.Pro588=)
dbSNP gnomAD v3 gnomAD v4
16g.23215283A>TCA494459759SCNN1Gc.1764A>T (p.Pro588=)
16g.23215284C>ACA395103633SCNN1Gc.1765C>A (p.Gln589Lys)
16g.23215284C>GCA395103631SCNN1Gc.1765C>G (p.Gln589Glu)
16g.23215284C>TCA395103630SCNN1Gc.1765C>T (p.Gln589Ter)
16g.23215285A>CCA395103635SCNN1Gc.1766A>C (p.Gln589Pro)
16g.23215285A>GCA395103636SCNN1Gc.1766A>G (p.Gln589Arg)
16g.23215285A>TCA395103638SCNN1Gc.1766A>T (p.Gln589Leu)
16g.23215286G>ACA7959971SCNN1Gc.1767G>A (p.Gln589=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215286G>CCA395103639SCNN1Gc.1767G>C (p.Gln589His)
16g.23215286G=CA2213237009SCNN1Gc.1767G= (p.Gln589=)
16g.23215286G>TCA395103640SCNN1Gc.1767G>T (p.Gln589His)
16g.23215288delCA2573050811SCNN1Gc.1769del (p.Gly590AlafsTer9)
16g.23215287G>ACA395103642SCNN1Gc.1768G>A (p.Gly590Ser)
dbSNP gnomAD v4 COSMIC
16g.23215287G>CCA395103643SCNN1Gc.1768G>C (p.Gly590Arg)
16g.23215287G>TCA395103645SCNN1Gc.1768G>T (p.Gly590Cys)
16g.23215288G>ACA395103647SCNN1Gc.1769G>A (p.Gly590Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.23215288G>CCA395103648SCNN1Gc.1769G>C (p.Gly590Ala)
16g.23215288G=CA2213237016SCNN1Gc.1769G= (p.Gly590=)
16g.23215288G>TCA395103649SCNN1Gc.1769G>T (p.Gly590Val)
16g.23215289C>ACA494459766SCNN1Gc.1770C>A (p.Gly590=)
16g.23215289C>GCA494459768SCNN1Gc.1770C>G (p.Gly590=)
16g.23215289C>TCA494459767SCNN1Gc.1770C>T (p.Gly590=)
gnomAD v4
16g.23215290C>ACA395103653SCNN1Gc.1771C>A (p.Gln591Lys)
dbSNP gnomAD v3 gnomAD v4
16g.23215290C=CA2213237021SCNN1Gc.1771C= (p.Gln591=)
16g.23215290C>GCA395103654SCNN1Gc.1771C>G (p.Gln591Glu)
16g.23215290C>TCA395103651SCNN1Gc.1771C>T (p.Gln591Ter)
16g.23215291A=CA2213237026SCNN1Gc.1772A= (p.Gln591=)
16g.23215291A>CCA395103658SCNN1Gc.1772A>C (p.Gln591Pro)
dbSNP
16g.23215291A>GCA395103655SCNN1Gc.1772A>G (p.Gln591Arg)
16g.23215291A>TCA395103657SCNN1Gc.1772A>T (p.Gln591Leu)
16g.23215292G>ACA494459772SCNN1Gc.1773G>A (p.Gln591=)
16g.23215292G>CCA395103660SCNN1Gc.1773G>C (p.Gln591His)
16g.23215292G>TCA395103661SCNN1Gc.1773G>T (p.Gln591His)
16g.23215293G>ACA395103663SCNN1Gc.1774G>A (p.Asp592Asn)
16g.23215293G>CCA395103664SCNN1Gc.1774G>C (p.Asp592His)
dbSNP gnomAD v4
16g.23215293G=CA2213237031SCNN1Gc.1774G= (p.Asp592=)
16g.23215293G>TCA7959972SCNN1Gc.1774G>T (p.Asp592Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215294A=CA2213237034SCNN1Gc.1775A= (p.Asp592=)
16g.23215294A>CCA395103666SCNN1Gc.1775A>C (p.Asp592Ala)
16g.23215294A>GCA7959973SCNN1Gc.1775A>G (p.Asp592Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215294A>TCA395103668SCNN1Gc.1775A>T (p.Asp592Val)
gnomAD v4
16g.23215295C>ACA395103669SCNN1Gc.1776C>A (p.Asp592Glu)
16g.23215295C=CA2213237037SCNN1Gc.1776C= (p.Asp592=)
16g.23215295C>GCA395103671SCNN1Gc.1776C>G (p.Asp592Glu)
dbSNP
16g.23215295C>TCA494459773SCNN1Gc.1776C>T (p.Asp592=)
16g.23215296A=CA2213237040SCNN1Gc.1777A= (p.Asn593=)
16g.23215296A>CCA395103675SCNN1Gc.1777A>C (p.Asn593His)
16g.23215296A>GCA279470856SCNN1Gc.1777A>G (p.Asn593Asp)
dbSNP gnomAD v2 gnomAD v4
16g.23215296A>TCA395103673SCNN1Gc.1777A>T (p.Asn593Tyr)
16g.23215297A=CA2213237041SCNN1Gc.1778A= (p.Asn593=)
16g.23215297A>CCA395103677SCNN1Gc.1778A>C (p.Asn593Thr)
16g.23215297A>GCA395103679SCNN1Gc.1778A>G (p.Asn593Ser)
gnomAD v4
16g.23215297A>TCA395103680SCNN1Gc.1778A>T (p.Asn593Ile)
gnomAD v4
16g.23215298T>ACA395103681SCNN1Gc.1779T>A (p.Asn593Lys)
16g.23215298T>CCA494459774SCNN1Gc.1779T>C (p.Asn593=)
16g.23215298T>GCA395103683SCNN1Gc.1779T>G (p.Asn593Lys)
16g.23215298_23215300dupCA7959974SCNN1Gc.1779_1781dup (p.Pro594_Ala595insPro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.23215299C>ACA395103684SCNN1Gc.1780C>A (p.Pro594Thr)
16g.23215299C>GCA395103686SCNN1Gc.1780C>G (p.Pro594Ala)
16g.23215299C>TCA395103688SCNN1Gc.1780C>T (p.Pro594Ser)
COSMIC
16g.23215300C>ACA395103689SCNN1Gc.1781C>A (p.Pro594Gln)
16g.23215300C>GCA395103691SCNN1Gc.1781C>G (p.Pro594Arg)
16g.23215300C>TCA395103692SCNN1Gc.1781C>T (p.Pro594Leu)
gnomAD v4 COSMIC
16g.23215301A>CCA494459777SCNN1Gc.1782A>C (p.Pro594=)
16g.23215301A>GCA494459778SCNN1Gc.1782A>G (p.Pro594=)
gnomAD v4
16g.23215301A>TCA494459779SCNN1Gc.1782A>T (p.Pro594=)
16g.23215302G>ACA395103697SCNN1Gc.1783G>A (p.Ala595Thr)
gnomAD v4
16g.23215302G>CCA395103696SCNN1Gc.1783G>C (p.Ala595Pro)
16g.23215302G>TCA395103694SCNN1Gc.1783G>T (p.Ala595Ser)
16g.23215303C>ACA395103699SCNN1Gc.1784C>A (p.Ala595Asp)
gnomAD v4
16g.23215303C=CA2213237045SCNN1Gc.1784C= (p.Ala595=)
16g.23215303C>GCA395103701SCNN1Gc.1784C>G (p.Ala595Gly)
16g.23215303C>TCA395103702SCNN1Gc.1784C>T (p.Ala595Val)
dbSNP gnomAD v4
16g.23215304C>ACA494459784SCNN1Gc.1785C>A (p.Ala595=)
16g.23215304C>GCA494459785SCNN1Gc.1785C>G (p.Ala595=)
16g.23215304C>TCA494459782SCNN1Gc.1785C>T (p.Ala595=)
16g.23215305C>ACA395103703SCNN1Gc.1786C>A (p.Leu596Met)
COSMIC
16g.23215305C>GCA395103705SCNN1Gc.1786C>G (p.Leu596Val)
16g.23215305C>TCA494459786SCNN1Gc.1786C>T (p.Leu596=)
16g.23215306T>ACA279470868SCNN1Gc.1787T>A (p.Leu596Gln)
dbSNP
16g.23215306T>CCA395103707SCNN1Gc.1787T>C (p.Leu596Pro)
gnomAD v4
16g.23215306T>GCA395103708SCNN1Gc.1787T>G (p.Leu596Arg)
16g.23215306T=CA2213237049SCNN1Gc.1787T= (p.Leu596=)
16g.23215307G>ACA494459789SCNN1Gc.1788G>A (p.Leu596=)
16g.23215307G>CCA494459787SCNN1Gc.1788G>C (p.Leu596=)
16g.23215307G>TCA494459788SCNN1Gc.1788G>T (p.Leu596=)
16g.23215308G>ACA395103709SCNN1Gc.1789G>A (p.Asp597Asn)
COSMIC
16g.23215308G>CCA395103711SCNN1Gc.1789G>C (p.Asp597His)
16g.23215308G>TCA395103713SCNN1Gc.1789G>T (p.Asp597Tyr)
16g.23215309A>CCA395103715SCNN1Gc.1790A>C (p.Asp597Ala)
16g.23215309A>GCA395103716SCNN1Gc.1790A>G (p.Asp597Gly)
16g.23215309A>TCA395103717SCNN1Gc.1790A>T (p.Asp597Val)
gnomAD v4
16g.23215310T>ACA395103719SCNN1Gc.1791T>A (p.Asp597Glu)
16g.23215310T>CCA494459793SCNN1Gc.1791T>C (p.Asp597=)
gnomAD v4
16g.23215310T>GCA395103720SCNN1Gc.1791T>G (p.Asp597Glu)
16g.23215311A=CA2213237058SCNN1Gc.1792A= (p.Ile598=)
16g.23215311A>CCA395103722SCNN1Gc.1792A>C (p.Ile598Leu)
16g.23215311A>GCA279470873SCNN1Gc.1792A>G (p.Ile598Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.23215311A>TCA395103724SCNN1Gc.1792A>T (p.Ile598Leu)
16g.23215312T>ACA395103726SCNN1Gc.1793T>A (p.Ile598Lys)
16g.23215312T>CCA395103727SCNN1Gc.1793T>C (p.Ile598Thr)
gnomAD v4
16g.23215312T>GCA395103729SCNN1Gc.1793T>G (p.Ile598Arg)
16g.23215313A>CCA494459795SCNN1Gc.1794A>C (p.Ile598=)
16g.23215313A>GCA395103730SCNN1Gc.1794A>G (p.Ile598Met)
16g.23215313A>TCA494459798SCNN1Gc.1794A>T (p.Ile598=)
16g.23215314G>ACA395103731SCNN1Gc.1795G>A (p.Asp599Asn)
dbSNP gnomAD v2 gnomAD v4
16g.23215314G>CCA395103732SCNN1Gc.1795G>C (p.Asp599His)
gnomAD v4
16g.23215314G=CA2213237064SCNN1Gc.1795G= (p.Asp599=)
16g.23215314G>TCA395103733SCNN1Gc.1795G>T (p.Asp599Tyr)
16g.23215315A>CCA395103734SCNN1Gc.1796A>C (p.Asp599Ala)
16g.23215315A>GCA395103735SCNN1Gc.1796A>G (p.Asp599Gly)
16g.23215315A>TCA395103737SCNN1Gc.1796A>T (p.Asp599Val)
16g.23215316C>ACA395103739SCNN1Gc.1797C>A (p.Asp599Glu)
COSMIC
16g.23215316C=CA2213237069SCNN1Gc.1797C= (p.Asp599=)
16g.23215316C>GCA279470878SCNN1Gc.1797C>G (p.Asp599Glu)
dbSNP gnomAD v2
16g.23215316C>TCA7959975SCNN1Gc.1797C>T (p.Asp599=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.23215317G>ACA7959976SCNN1Gc.1798G>A (p.Asp600Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.23215317G>CCA7959977SCNN1Gc.1798G>C (p.Asp600His)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.23215317G=CA2213237072SCNN1Gc.1798G= (p.Asp600=)
16g.23215317G>TCA395103741SCNN1Gc.1798G>T (p.Asp600Tyr)
dbSNP
16g.23215318A=CA2213237083SCNN1Gc.1799A= (p.Asp600=)
16g.23215318A>CCA395103743SCNN1Gc.1799A>C (p.Asp600Ala)
16g.23215318A>GCA395103744SCNN1Gc.1799A>G (p.Asp600Gly)
dbSNP gnomAD v2 gnomAD v4
16g.23215318A>TCA395103746SCNN1Gc.1799A>T (p.Asp600Val)
16g.23215319T>ACA395103747SCNN1Gc.1800T>A (p.Asp600Glu)
16g.23215319T>CCA494459801SCNN1Gc.1800T>C (p.Asp600=)
gnomAD v4
16g.23215319T>GCA395103749SCNN1Gc.1800T>G (p.Asp600Glu)
16g.23215320G>ACA395103750SCNN1Gc.1801G>A (p.Asp601Asn)
16g.23215320G>CCA395103751SCNN1Gc.1801G>C (p.Asp601His)
16g.23215320G=CA2213237089SCNN1Gc.1801G= (p.Asp601=)
16g.23215320G>TCA395103753SCNN1Gc.1801G>T (p.Asp601Tyr)
dbSNP gnomAD v2 gnomAD v4
16g.23215321A>CCA395103755SCNN1Gc.1802A>C (p.Asp601Ala)
16g.23215321A>GCA395103756SCNN1Gc.1802A>G (p.Asp601Gly)
16g.23215321A>TCA395103758SCNN1Gc.1802A>T (p.Asp601Val)
16g.23215322C>ACA395103759SCNN1Gc.1803C>A (p.Asp601Glu)
16g.23215322C>GCA395103760SCNN1Gc.1803C>G (p.Asp601Glu)
16g.23215322C>TCA494459803SCNN1Gc.1803C>T (p.Asp601=)
16g.23215323C>ACA395103762SCNN1Gc.1804C>A (p.Leu602Ile)
16g.23215323C=CA2213237094SCNN1Gc.1804C= (p.Leu602=)
16g.23215323C>GCA395103764SCNN1Gc.1804C>G (p.Leu602Val)
16g.23215323C>TCA494459806SCNN1Gc.1804C>T (p.Leu602=)
dbSNP
16g.23215324T>ACA395103765SCNN1Gc.1805T>A (p.Leu602Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.23215324T>CCA395103767SCNN1Gc.1805T>C (p.Leu602Pro)
gnomAD v4
16g.23215324T>GCA395103768SCNN1Gc.1805T>G (p.Leu602Arg)
16g.23215324T=CA2213237098SCNN1Gc.1805T= (p.Leu602=)
16g.23215325A=CA2213237100SCNN1Gc.1806A= (p.Leu602=)
16g.23215325A>CCA7959978SCNN1Gc.1806A>C (p.Leu602=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.23215325A>GCA494459807SCNN1Gc.1806A>G (p.Leu602=)
16g.23215325A>TCA494459808SCNN1Gc.1806A>T (p.Leu602=)
gnomAD v4
16g.23215326C>ACA395103770SCNN1Gc.1807C>A (p.Pro603Thr)
16g.23215326C=CA2213237103SCNN1Gc.1807C= (p.Pro603=)
16g.23215326C>GCA395103772SCNN1Gc.1807C>G (p.Pro603Ala)
16g.23215326C>TCA395103774SCNN1Gc.1807C>T (p.Pro603Ser)
dbSNP gnomAD v2 gnomAD v4
16g.23215327C>ACA395103775SCNN1Gc.1808C>A (p.Pro603His)
16g.23215327C=CA2213237110SCNN1Gc.1808C= (p.Pro603=)
16g.23215327C>GCA395103776SCNN1Gc.1808C>G (p.Pro603Arg)
ClinVar dbSNP gnomAD v4
16g.23215327C>TCA395103778SCNN1Gc.1808C>T (p.Pro603Leu)
16g.23215328C>ACA494459812SCNN1Gc.1809C>A (p.Pro603=)
16g.23215328C=CA2213237115SCNN1Gc.1809C= (p.Pro603=)
16g.23215328C>GCA494459813SCNN1Gc.1809C>G (p.Pro603=)
gnomAD v4
16g.23215328C>TCA7959979SCNN1Gc.1809C>T (p.Pro603=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.23215329A=CA2213236422SCNN1Gc.1810A= (p.Thr604=)
16g.23215329A>CCA7959980SCNN1Gc.1810A>C (p.Thr604Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.23215329A>GCA395103782SCNN1Gc.1810A>G (p.Thr604Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.23215329A>TCA395103781SCNN1Gc.1810A>T (p.Thr604Ser)
16g.23215330C>ACA395103785SCNN1Gc.1811C>A (p.Thr604Asn)
gnomAD v4
16g.23215330C=CA2213236432SCNN1Gc.1811C= (p.Thr604=)
16g.23215330C>GCA395103786SCNN1Gc.1811C>G (p.Thr604Ser)
16g.23215330C>TCA279470960SCNN1Gc.1811C>T (p.Thr604Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.23215331T>ACA494459817SCNN1Gc.1812T>A (p.Thr604=)
16g.23215331T>CCA494459818SCNN1Gc.1812T>C (p.Thr604=)
gnomAD v4
16g.23215331T>GCA494459819SCNN1Gc.1812T>G (p.Thr604=)
16g.23215333dupCA645596538SCNN1Gc.1814dup (p.Asn606GlnfsTer?)
COSMIC
16g.23215332T>ACA395103789SCNN1Gc.1813T>A (p.Phe605Ile)
16g.23215332T>CCA395103790SCNN1Gc.1813T>C (p.Phe605Leu)
16g.23215332T>GCA395103792SCNN1Gc.1813T>G (p.Phe605Val)
16g.23215333T>ACA395103795SCNN1Gc.1814T>A (p.Phe605Tyr)
16g.23215333T>CCA395103793SCNN1Gc.1814T>C (p.Phe605Ser)
16g.23215333T>GCA395103794SCNN1Gc.1814T>G (p.Phe605Cys)
16g.23215334C>ACA395103797SCNN1Gc.1815C>A (p.Phe605Leu)
16g.23215334C>GCA395103799SCNN1Gc.1815C>G (p.Phe605Leu)
16g.23215334C>TCA494459821SCNN1Gc.1815C>T (p.Phe605=)
16g.23215335A>CCA395103800SCNN1Gc.1816A>C (p.Asn606His)
16g.23215335A>GCA395103801SCNN1Gc.1816A>G (p.Asn606Asp)
16g.23215335A>TCA395103803SCNN1Gc.1816A>T (p.Asn606Tyr)
16g.23215336A=CA2213236435SCNN1Gc.1817A= (p.Asn606=)
16g.23215336A>CCA279470964SCNN1Gc.1817A>C (p.Asn606Thr)
dbSNP gnomAD v2 gnomAD v4
16g.23215336A>GCA395103806SCNN1Gc.1817A>G (p.Asn606Ser)
16g.23215336A>TCA395103805SCNN1Gc.1817A>T (p.Asn606Ile)
16g.23215337C>ACA395103807SCNN1Gc.1818C>A (p.Asn606Lys)
16g.23215337C>GCA395103809SCNN1Gc.1818C>G (p.Asn606Lys)
16g.23215337C>TCA494459823SCNN1Gc.1818C>T (p.Asn606=)
16g.23215338T>ACA395103810SCNN1Gc.1819T>A (p.Ser607Thr)
16g.23215338T>CCA395103812SCNN1Gc.1819T>C (p.Ser607Pro)
16g.23215338T>GCA395103813SCNN1Gc.1819T>G (p.Ser607Ala)
16g.23215339C>ACA395103815SCNN1Gc.1820C>A (p.Ser607Tyr)
16g.23215339C>GCA395103817SCNN1Gc.1820C>G (p.Ser607Cys)
gnomAD v4
16g.23215339C>TCA395103818SCNN1Gc.1820C>T (p.Ser607Phe)
16g.23215340T>ACA494459827SCNN1Gc.1821T>A (p.Ser607=)
16g.23215340T>CCA494459828SCNN1Gc.1821T>C (p.Ser607=)
16g.23215340T>GCA494459829SCNN1Gc.1821T>G (p.Ser607=)
16g.23215341G>ACA395103820SCNN1Gc.1822G>A (p.Ala608Thr)
16g.23215341G>CCA395103822SCNN1Gc.1822G>C (p.Ala608Pro)
16g.23215341G>TCA395103823SCNN1Gc.1822G>T (p.Ala608Ser)
16g.23215342C>ACA395103827SCNN1Gc.1823C>A (p.Ala608Asp)
16g.23215342C>GCA395103829SCNN1Gc.1823C>G (p.Ala608Gly)
16g.23215342C>TCA395103825SCNN1Gc.1823C>T (p.Ala608Val)
16g.23215343T>ACA494459831SCNN1Gc.1824T>A (p.Ala608=)
16g.23215343T>CCA240046SCNN1Gc.1824T>C (p.Ala608=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.23215343T>GCA494459832SCNN1Gc.1824T>G (p.Ala608=)
16g.23215343T=CA2213236440SCNN1Gc.1824T= (p.Ala608=)

Number of alleles fetched