Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91278001G>ACA390612034CCDC88Cc.4979C>T (p.Pro1660Leu)
c.551C>T (p.Pro184Leu)
n.791C>T
c.1207C>T
c.4871C>T (p.Pro1624Leu)
n.5254C>T
c.2060C>T (p.Pro687Leu)
n.5252C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91278001G>CCA390612036CCDC88Cc.4979C>G (p.Pro1660Arg)
c.551C>G (p.Pro184Arg)
n.791C>G
c.1207C>G
c.4871C>G (p.Pro1624Arg)
n.5254C>G
c.2060C>G (p.Pro687Arg)
n.5252C>G
14g.91278001G=CA2154908840CCDC88Cc.4979C= (p.Pro1660=)
c.551C= (p.Pro184=)
n.791C=
c.1207C=
c.4871C= (p.Pro1624=)
n.5254C=
c.2060C= (p.Pro687=)
n.5252C=
14g.91278001G>TCA390612035CCDC88Cc.4979C>A (p.Pro1660His)
c.551C>A (p.Pro184His)
n.791C>A
c.1207C>A
c.4871C>A (p.Pro1624His)
n.5254C>A
c.2060C>A (p.Pro687His)
n.5252C>A
14g.91278002G>ACA390612037CCDC88Cc.4978C>T (p.Pro1660Ser)
c.550C>T (p.Pro184Ser)
n.790C>T
c.1206C>T
c.4870C>T (p.Pro1624Ser)
n.5253C>T
c.2059C>T (p.Pro687Ser)
n.5251C>T
 gnomAD v4
14g.91278002G>CCA390612039CCDC88Cc.4978C>G (p.Pro1660Ala)
c.550C>G (p.Pro184Ala)
n.790C>G
c.1206C>G
c.4870C>G (p.Pro1624Ala)
n.5253C>G
c.2059C>G (p.Pro687Ala)
n.5251C>G
14g.91278002G>TCA390612038CCDC88Cc.4978C>A (p.Pro1660Thr)
c.550C>A (p.Pro184Thr)
n.790C>A
c.1206C>A
c.4870C>A (p.Pro1624Thr)
n.5253C>A
c.2059C>A (p.Pro687Thr)
n.5251C>A
 gnomAD v4
14g.91278003C>ACA487540271CCDC88Cc.4977G>T (p.Arg1659=)
c.549G>T (p.Arg183=)
n.789G>T
c.1205G>T
c.4869G>T (p.Arg1623=)
n.5252G>T
c.2058G>T (p.Arg686=)
n.5250G>T
 gnomAD v4
14g.91278003C>GCA487540270CCDC88Cc.4977G>C (p.Arg1659=)
c.549G>C (p.Arg183=)
n.789G>C
c.1205G>C
c.4869G>C (p.Arg1623=)
n.5252G>C
c.2058G>C (p.Arg686=)
n.5250G>C
14g.91278003C>TCA487540269CCDC88Cc.4977G>A (p.Arg1659=)
c.549G>A (p.Arg183=)
n.789G>A
c.1205G>A
c.4869G>A (p.Arg1623=)
n.5252G>A
c.2058G>A (p.Arg686=)
n.5250G>A
 gnomAD v4
14g.91278004C>ACA390612040CCDC88Cc.4976G>T (p.Arg1659Leu)
c.548G>T (p.Arg183Leu)
n.788G>T
c.1204G>T
c.4868G>T (p.Arg1623Leu)
n.5251G>T
c.2057G>T (p.Arg686Leu)
n.5249G>T
 gnomAD v4
14g.91278004C=CA2154908841CCDC88Cc.4976G= (p.Arg1659=)
c.548G= (p.Arg183=)
n.788G=
c.1204G=
c.4868G= (p.Arg1623=)
n.5251G=
c.2057G= (p.Arg686=)
n.5249G=
14g.91278004C>GCA390612041CCDC88Cc.4976G>C (p.Arg1659Pro)
c.548G>C (p.Arg183Pro)
n.788G>C
c.1204G>C
c.4868G>C (p.Arg1623Pro)
n.5251G>C
c.2057G>C (p.Arg686Pro)
n.5249G>C
 dbSNP gnomAD v3 gnomAD v4
14g.91278004C>TCA7308779CCDC88Cc.4976G>A (p.Arg1659Gln)
c.548G>A (p.Arg183Gln)
n.788G>A
c.1204G>A
c.4868G>A (p.Arg1623Gln)
n.5251G>A
c.2057G>A (p.Arg686Gln)
n.5249G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278005G>ACA7308780CCDC88Cc.4975C>T (p.Arg1659Trp)
c.547C>T (p.Arg183Trp)
n.787C>T
c.1203C>T
c.4867C>T (p.Arg1623Trp)
n.5250C>T
c.2056C>T (p.Arg686Trp)
n.5248C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.91278005G>CCA390612042CCDC88Cc.4975C>G (p.Arg1659Gly)
c.547C>G (p.Arg183Gly)
n.787C>G
c.1203C>G
c.4867C>G (p.Arg1623Gly)
n.5250C>G
c.2056C>G (p.Arg686Gly)
n.5248C>G
14g.91278005G=CA2154908842CCDC88Cc.4975C= (p.Arg1659=)
c.547C= (p.Arg183=)
n.787C=
c.1203C=
c.4867C= (p.Arg1623=)
n.5250C=
c.2056C= (p.Arg686=)
n.5248C=
14g.91278005G>TCA171536CCDC88Cc.4975C>A (p.Arg1659=)
c.547C>A (p.Arg183=)
n.787C>A
c.1203C>A
c.4867C>A (p.Arg1623=)
n.5250C>A
c.2056C>A (p.Arg686=)
n.5248C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278006C>ACA487540272CCDC88Cc.4974G>T (p.Val1658=)
c.546G>T (p.Val182=)
n.786G>T
c.1202G>T
c.4866G>T (p.Val1622=)
n.5249G>T
c.2055G>T (p.Val685=)
n.5247G>T
 gnomAD v4
14g.91278006C>GCA487540273CCDC88Cc.4974G>C (p.Val1658=)
c.546G>C (p.Val182=)
n.786G>C
c.1202G>C
c.4866G>C (p.Val1622=)
n.5249G>C
c.2055G>C (p.Val685=)
n.5247G>C
14g.91278006C>TCA487540274CCDC88Cc.4974G>A (p.Val1658=)
c.546G>A (p.Val182=)
n.786G>A
c.1202G>A
c.4866G>A (p.Val1622=)
n.5249G>A
c.2055G>A (p.Val685=)
n.5247G>A
 gnomAD v4
14g.91278007A=CA2154908843CCDC88Cc.4973T= (p.Val1658=)
c.545T= (p.Val182=)
n.785T=
c.1201T=
c.4865T= (p.Val1622=)
n.5248T=
c.2054T= (p.Val685=)
n.5246T=
14g.91278007A>CCA390612043CCDC88Cc.4973T>G (p.Val1658Gly)
c.545T>G (p.Val182Gly)
n.785T>G
c.1201T>G
c.4865T>G (p.Val1622Gly)
n.5248T>G
c.2054T>G (p.Val685Gly)
n.5246T>G
14g.91278007A>GCA390612044CCDC88Cc.4973T>C (p.Val1658Ala)
c.545T>C (p.Val182Ala)
n.785T>C
c.1201T>C
c.4865T>C (p.Val1622Ala)
n.5248T>C
c.2054T>C (p.Val685Ala)
n.5246T>C
 dbSNP gnomAD v4
14g.91278007A>TCA390612045CCDC88Cc.4973T>A (p.Val1658Glu)
c.545T>A (p.Val182Glu)
n.785T>A
c.1201T>A
c.4865T>A (p.Val1622Glu)
n.5248T>A
c.2054T>A (p.Val685Glu)
n.5246T>A
14g.91278008C>ACA390612046CCDC88Cc.4972G>T (p.Val1658Leu)
c.544G>T (p.Val182Leu)
n.784G>T
c.1200G>T
c.4864G>T (p.Val1622Leu)
n.5247G>T
c.2053G>T (p.Val685Leu)
n.5245G>T
 gnomAD v4
14g.91278008C>GCA390612047CCDC88Cc.4972G>C (p.Val1658Leu)
c.544G>C (p.Val182Leu)
n.784G>C
c.1200G>C
c.4864G>C (p.Val1622Leu)
n.5247G>C
c.2053G>C (p.Val685Leu)
n.5245G>C
14g.91278008C>TCA390612048CCDC88Cc.4972G>A (p.Val1658Met)
c.544G>A (p.Val182Met)
n.784G>A
c.1200G>A
c.4864G>A (p.Val1622Met)
n.5247G>A
c.2053G>A (p.Val685Met)
n.5245G>A
14g.91278009T>ACA487540275CCDC88Cc.4971A>T (p.Gly1657=)
c.543A>T (p.Gly181=)
n.783A>T
c.1199A>T
c.4863A>T (p.Gly1621=)
n.5246A>T
c.2052A>T (p.Gly684=)
n.5244A>T
14g.91278009T>CCA487540277CCDC88Cc.4971A>G (p.Gly1657=)
c.543A>G (p.Gly181=)
n.783A>G
c.1199A>G
c.4863A>G (p.Gly1621=)
n.5246A>G
c.2052A>G (p.Gly684=)
n.5244A>G
14g.91278009T>GCA487540276CCDC88Cc.4971A>C (p.Gly1657=)
c.543A>C (p.Gly181=)
n.783A>C
c.1199A>C
c.4863A>C (p.Gly1621=)
n.5246A>C
c.2052A>C (p.Gly684=)
n.5244A>C
14g.91278010C>ACA390612051CCDC88Cc.4970G>T (p.Gly1657Val)
c.542G>T (p.Gly181Val)
n.782G>T
c.1198G>T
c.4862G>T (p.Gly1621Val)
n.5245G>T
c.2051G>T (p.Gly684Val)
n.5243G>T
14g.91278010C>GCA390612049CCDC88Cc.4970G>C (p.Gly1657Ala)
c.542G>C (p.Gly181Ala)
n.782G>C
c.1198G>C
c.4862G>C (p.Gly1621Ala)
n.5245G>C
c.2051G>C (p.Gly684Ala)
n.5243G>C
14g.91278010C>TCA390612050CCDC88Cc.4970G>A (p.Gly1657Glu)
c.542G>A (p.Gly181Glu)
n.782G>A
c.1198G>A
c.4862G>A (p.Gly1621Glu)
n.5245G>A
c.2051G>A (p.Gly684Glu)
n.5243G>A
 dbSNP
14g.91278011C>ACA390612052CCDC88Cc.4969G>T (p.Gly1657Ter)
c.541G>T (p.Gly181Ter)
n.781G>T
c.1197G>T
c.4861G>T (p.Gly1621Ter)
n.5244G>T
c.2050G>T (p.Gly684Ter)
n.5242G>T
 gnomAD v4
14g.91278011C=CA2154908844CCDC88Cc.4969G= (p.Gly1657=)
c.541G= (p.Gly181=)
n.781G=
c.1197G=
c.4861G= (p.Gly1621=)
n.5244G=
c.2050G= (p.Gly684=)
n.5242G=
14g.91278011C>GCA390612053CCDC88Cc.4969G>C (p.Gly1657Arg)
c.541G>C (p.Gly181Arg)
n.781G>C
c.1197G>C
c.4861G>C (p.Gly1621Arg)
n.5244G>C
c.2050G>C (p.Gly684Arg)
n.5242G>C
14g.91278011C>TCA7308781CCDC88Cc.4969G>A (p.Gly1657Arg)
c.541G>A (p.Gly181Arg)
n.781G>A
c.1197G>A
c.4861G>A (p.Gly1621Arg)
n.5244G>A
c.2050G>A (p.Gly684Arg)
n.5242G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278012G>ACA7308782CCDC88Cc.4968C>T (p.Val1656=)
c.540C>T (p.Val180=)
n.780C>T
c.1196C>T
c.4860C>T (p.Val1620=)
n.5243C>T
c.2049C>T (p.Val683=)
n.5241C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278012G>CCA487540278CCDC88Cc.4968C>G (p.Val1656=)
c.540C>G (p.Val180=)
n.780C>G
c.1196C>G
c.4860C>G (p.Val1620=)
n.5243C>G
c.2049C>G (p.Val683=)
n.5241C>G
14g.91278012G=CA2154908845CCDC88Cc.4968C= (p.Val1656=)
c.540C= (p.Val180=)
n.780C=
c.1196C=
c.4860C= (p.Val1620=)
n.5243C=
c.2049C= (p.Val683=)
n.5241C=
14g.91278012G>TCA487540279CCDC88Cc.4968C>A (p.Val1656=)
c.540C>A (p.Val180=)
n.780C>A
c.1196C>A
c.4860C>A (p.Val1620=)
n.5243C>A
c.2049C>A (p.Val683=)
n.5241C>A
 gnomAD v4
14g.91278013A=CA2154908846CCDC88Cc.4967T= (p.Val1656=)
c.539T= (p.Val180=)
n.779T=
c.1195T=
c.4859T= (p.Val1620=)
n.5242T=
c.2048T= (p.Val683=)
n.5240T=
14g.91278013A>CCA390612056CCDC88Cc.4967T>G (p.Val1656Gly)
c.539T>G (p.Val180Gly)
n.779T>G
c.1195T>G
c.4859T>G (p.Val1620Gly)
n.5242T>G
c.2048T>G (p.Val683Gly)
n.5240T>G
14g.91278013A>GCA7308783CCDC88Cc.4967T>C (p.Val1656Ala)
c.539T>C (p.Val180Ala)
n.779T>C
c.1195T>C
c.4859T>C (p.Val1620Ala)
n.5242T>C
c.2048T>C (p.Val683Ala)
n.5240T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278013A>TCA390612058CCDC88Cc.4967T>A (p.Val1656Asp)
c.539T>A (p.Val180Asp)
n.779T>A
c.1195T>A
c.4859T>A (p.Val1620Asp)
n.5242T>A
c.2048T>A (p.Val683Asp)
n.5240T>A
14g.91278014C>ACA390612061CCDC88Cc.4966G>T (p.Val1656Phe)
c.538G>T (p.Val180Phe)
n.778G>T
c.1194G>T
c.4858G>T (p.Val1620Phe)
n.5241G>T
c.2047G>T (p.Val683Phe)
n.5239G>T
 gnomAD v4
14g.91278014C=CA2154908847CCDC88Cc.4966G= (p.Val1656=)
c.538G= (p.Val180=)
n.778G=
c.1194G=
c.4858G= (p.Val1620=)
n.5241G=
c.2047G= (p.Val683=)
n.5239G=
14g.91278014C>GCA390612062CCDC88Cc.4966G>C (p.Val1656Leu)
c.538G>C (p.Val180Leu)
n.778G>C
c.1194G>C
c.4858G>C (p.Val1620Leu)
n.5241G>C
c.2047G>C (p.Val683Leu)
n.5239G>C
14g.91278014C>TCA7308784CCDC88Cc.4966G>A (p.Val1656Ile)
c.538G>A (p.Val180Ile)
n.778G>A
c.1194G>A
c.4858G>A (p.Val1620Ile)
n.5241G>A
c.2047G>A (p.Val683Ile)
n.5239G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278015G>ACA7308785CCDC88Cc.4965C>T (p.Tyr1655=)
c.537C>T (p.Tyr179=)
n.777C>T
c.1193C>T
c.4857C>T (p.Tyr1619=)
n.5240C>T
c.2046C>T (p.Tyr682=)
n.5238C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278015G>CCA390612067CCDC88Cc.4965C>G (p.Tyr1655Ter)
c.537C>G (p.Tyr179Ter)
n.777C>G
c.1193C>G
c.4857C>G (p.Tyr1619Ter)
n.5240C>G
c.2046C>G (p.Tyr682Ter)
n.5238C>G
14g.91278015G=CA2154908848CCDC88Cc.4965C= (p.Tyr1655=)
c.537C= (p.Tyr179=)
n.777C=
c.1193C=
c.4857C= (p.Tyr1619=)
n.5240C=
c.2046C= (p.Tyr682=)
n.5238C=
14g.91278015G>TCA390612066CCDC88Cc.4965C>A (p.Tyr1655Ter)
c.537C>A (p.Tyr179Ter)
n.777C>A
c.1193C>A
c.4857C>A (p.Tyr1619Ter)
n.5240C>A
c.2046C>A (p.Tyr682Ter)
n.5238C>A
 dbSNP gnomAD v2 gnomAD v4
14g.91278016T>ACA390612070CCDC88Cc.4964A>T (p.Tyr1655Phe)
c.536A>T (p.Tyr179Phe)
n.776A>T
c.1192A>T
c.4856A>T (p.Tyr1619Phe)
n.5239A>T
c.2045A>T (p.Tyr682Phe)
n.5237A>T
14g.91278016T>CCA390612072CCDC88Cc.4964A>G (p.Tyr1655Cys)
c.536A>G (p.Tyr179Cys)
n.776A>G
c.1192A>G
c.4856A>G (p.Tyr1619Cys)
n.5239A>G
c.2045A>G (p.Tyr682Cys)
n.5237A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278016T>GCA390612074CCDC88Cc.4964A>C (p.Tyr1655Ser)
c.536A>C (p.Tyr179Ser)
n.776A>C
c.1192A>C
c.4856A>C (p.Tyr1619Ser)
n.5239A>C
c.2045A>C (p.Tyr682Ser)
n.5237A>C
14g.91278016T=CA2154908849CCDC88Cc.4964A= (p.Tyr1655=)
c.536A= (p.Tyr179=)
n.776A=
c.1192A=
c.4856A= (p.Tyr1619=)
n.5239A=
c.2045A= (p.Tyr682=)
n.5237A=
14g.91278017A=CA2154908850CCDC88Cc.4963T= (p.Tyr1655=)
c.535T= (p.Tyr179=)
n.775T=
c.1191T=
c.4855T= (p.Tyr1619=)
n.5238T=
c.2044T= (p.Tyr682=)
n.5236T=
14g.91278017A>CCA390612077CCDC88Cc.4963T>G (p.Tyr1655Asp)
c.535T>G (p.Tyr179Asp)
n.775T>G
c.1191T>G
c.4855T>G (p.Tyr1619Asp)
n.5238T>G
c.2044T>G (p.Tyr682Asp)
n.5236T>G
14g.91278017A>GCA7308786CCDC88Cc.4963T>C (p.Tyr1655His)
c.535T>C (p.Tyr179His)
n.775T>C
c.1191T>C
c.4855T>C (p.Tyr1619His)
n.5238T>C
c.2044T>C (p.Tyr682His)
n.5236T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278017A>TCA390612079CCDC88Cc.4963T>A (p.Tyr1655Asn)
c.535T>A (p.Tyr179Asn)
n.775T>A
c.1191T>A
c.4855T>A (p.Tyr1619Asn)
n.5238T>A
c.2044T>A (p.Tyr682Asn)
n.5236T>A
14g.91278018G>ACA487540280CCDC88Cc.4962C>T (p.Pro1654=)
c.534C>T (p.Pro178=)
n.774C>T
c.1190C>T
c.4854C>T (p.Pro1618=)
n.5237C>T
c.2043C>T (p.Pro681=)
n.5235C>T
 ClinVar
14g.91278018G>CCA487540281CCDC88Cc.4962C>G (p.Pro1654=)
c.534C>G (p.Pro178=)
n.774C>G
c.1190C>G
c.4854C>G (p.Pro1618=)
n.5237C>G
c.2043C>G (p.Pro681=)
n.5235C>G
 gnomAD v4
14g.91278018G>TCA487540282CCDC88Cc.4962C>A (p.Pro1654=)
c.534C>A (p.Pro178=)
n.774C>A
c.1190C>A
c.4854C>A (p.Pro1618=)
n.5237C>A
c.2043C>A (p.Pro681=)
n.5235C>A
 gnomAD v4
14g.91278019G>ACA390612081CCDC88Cc.4961C>T (p.Pro1654Leu)
c.533C>T (p.Pro178Leu)
n.773C>T
c.1189C>T
c.4853C>T (p.Pro1618Leu)
n.5236C>T
c.2042C>T (p.Pro681Leu)
n.5234C>T
 gnomAD v4
14g.91278019G>CCA390612083CCDC88Cc.4961C>G (p.Pro1654Arg)
c.533C>G (p.Pro178Arg)
n.773C>G
c.1189C>G
c.4853C>G (p.Pro1618Arg)
n.5236C>G
c.2042C>G (p.Pro681Arg)
n.5234C>G
14g.91278019G>TCA390612085CCDC88Cc.4961C>A (p.Pro1654His)
c.533C>A (p.Pro178His)
n.773C>A
c.1189C>A
c.4853C>A (p.Pro1618His)
n.5236C>A
c.2042C>A (p.Pro681His)
n.5234C>A
14g.91278020G>ACA390612086CCDC88Cc.4960C>T (p.Pro1654Ser)
c.532C>T (p.Pro178Ser)
n.772C>T
c.1188C>T
c.4852C>T (p.Pro1618Ser)
n.5235C>T
c.2041C>T (p.Pro681Ser)
n.5233C>T
 gnomAD v4
14g.91278020G>CCA390612088CCDC88Cc.4960C>G (p.Pro1654Ala)
c.532C>G (p.Pro178Ala)
n.772C>G
c.1188C>G
c.4852C>G (p.Pro1618Ala)
n.5235C>G
c.2041C>G (p.Pro681Ala)
n.5233C>G
14g.91278020G>TCA390612090CCDC88Cc.4960C>A (p.Pro1654Thr)
c.532C>A (p.Pro178Thr)
n.772C>A
c.1188C>A
c.4852C>A (p.Pro1618Thr)
n.5235C>A
c.2041C>A (p.Pro681Thr)
n.5233C>A
14g.91278021A>CCA487540283CCDC88Cc.4959T>G (p.Pro1653=)
c.531T>G (p.Pro177=)
n.771T>G
c.1187T>G
c.4851T>G (p.Pro1617=)
n.5234T>G
c.2040T>G (p.Pro680=)
n.5232T>G
14g.91278021A>GCA487540284CCDC88Cc.4959T>C (p.Pro1653=)
c.531T>C (p.Pro177=)
n.771T>C
c.1187T>C
c.4851T>C (p.Pro1617=)
n.5234T>C
c.2040T>C (p.Pro680=)
n.5232T>C
 ClinVar gnomAD v4
14g.91278021A>TCA487540285CCDC88Cc.4959T>A (p.Pro1653=)
c.531T>A (p.Pro177=)
n.771T>A
c.1187T>A
c.4851T>A (p.Pro1617=)
n.5234T>A
c.2040T>A (p.Pro680=)
n.5232T>A
14g.91278021_91278027delinsAGGGGCTCA2154908851CCDC88Cc.4953_4959delinsAGCCCCT (p.Thr1651=)
c.525_531delinsAGCCCCT (p.Thr175=)
n.765_771delinsAGCCCCT
c.1181_1187delinsAGCCCCT
c.4845_4851delinsAGCCCCT (p.Thr1615=)
n.5228_5234delinsAGCCCCT
c.2034_2040delinsAGCCCCT (p.Thr678=)
n.5226_5232delinsAGCCCCT
14g.91278022G>ACA390612096CCDC88Cc.4958C>T (p.Pro1653Leu)
c.530C>T (p.Pro177Leu)
n.770C>T
c.1186C>T
c.4850C>T (p.Pro1617Leu)
n.5233C>T
c.2039C>T (p.Pro680Leu)
n.5231C>T
 gnomAD v4
14g.91278022G>CCA390612094CCDC88Cc.4958C>G (p.Pro1653Arg)
c.530C>G (p.Pro177Arg)
n.770C>G
c.1186C>G
c.4850C>G (p.Pro1617Arg)
n.5233C>G
c.2039C>G (p.Pro680Arg)
n.5231C>G
14g.91278022G>TCA390612092CCDC88Cc.4958C>A (p.Pro1653His)
c.530C>A (p.Pro177His)
n.770C>A
c.1186C>A
c.4850C>A (p.Pro1617His)
n.5233C>A
c.2039C>A (p.Pro680His)
n.5231C>A
14g.91278023_91278028delCA616112358CCDC88Cc.4953_4958del (p.Ala1652_Pro1653del)
c.525_530del (p.Ala176_Pro177del)
n.765_770del
c.1181_1186del
c.4845_4850del (p.Ala1616_Pro1617del)
n.5228_5233del
c.2034_2039del (p.Ala679_Pro680del)
n.5226_5231del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278023G>ACA390612098CCDC88Cc.4957C>T (p.Pro1653Ser)
c.529C>T (p.Pro177Ser)
n.769C>T
c.1185C>T
c.4849C>T (p.Pro1617Ser)
n.5232C>T
c.2038C>T (p.Pro680Ser)
n.5230C>T
 gnomAD v4
14g.91278023G>CCA390612100CCDC88Cc.4957C>G (p.Pro1653Ala)
c.529C>G (p.Pro177Ala)
n.769C>G
c.1185C>G
c.4849C>G (p.Pro1617Ala)
n.5232C>G
c.2038C>G (p.Pro680Ala)
n.5230C>G
 dbSNP gnomAD v4
14g.91278023G=CA2154908852CCDC88Cc.4957C= (p.Pro1653=)
c.529C= (p.Pro177=)
n.769C=
c.1185C=
c.4849C= (p.Pro1617=)
n.5232C=
c.2038C= (p.Pro680=)
n.5230C=
14g.91278023G>TCA390612102CCDC88Cc.4957C>A (p.Pro1653Thr)
c.529C>A (p.Pro177Thr)
n.769C>A
c.1185C>A
c.4849C>A (p.Pro1617Thr)
n.5232C>A
c.2038C>A (p.Pro680Thr)
n.5230C>A
 gnomAD v4
14g.91278024G>ACA487540288CCDC88Cc.4956C>T (p.Ala1652=)
c.528C>T (p.Ala176=)
n.768C>T
c.1184C>T
c.4848C>T (p.Ala1616=)
n.5231C>T
c.2037C>T (p.Ala679=)
n.5229C>T
14g.91278024G>CCA487540286CCDC88Cc.4956C>G (p.Ala1652=)
c.528C>G (p.Ala176=)
n.768C>G
c.1184C>G
c.4848C>G (p.Ala1616=)
n.5231C>G
c.2037C>G (p.Ala679=)
n.5229C>G
 ClinVar
14g.91278024G>TCA487540287CCDC88Cc.4956C>A (p.Ala1652=)
c.528C>A (p.Ala176=)
n.768C>A
c.1184C>A
c.4848C>A (p.Ala1616=)
n.5231C>A
c.2037C>A (p.Ala679=)
n.5229C>A
 gnomAD v4
14g.91278025G>ACA390612105CCDC88Cc.4955C>T (p.Ala1652Val)
c.527C>T (p.Ala176Val)
n.767C>T
c.1183C>T
c.4847C>T (p.Ala1616Val)
n.5230C>T
c.2036C>T (p.Ala679Val)
n.5228C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91278025G>CCA390612107CCDC88Cc.4955C>G (p.Ala1652Gly)
c.527C>G (p.Ala176Gly)
n.767C>G
c.1183C>G
c.4847C>G (p.Ala1616Gly)
n.5230C>G
c.2036C>G (p.Ala679Gly)
n.5228C>G
14g.91278025G=CA2154908853CCDC88Cc.4955C= (p.Ala1652=)
c.527C= (p.Ala176=)
n.767C=
c.1183C=
c.4847C= (p.Ala1616=)
n.5230C=
c.2036C= (p.Ala679=)
n.5228C=
14g.91278025G>TCA390612108CCDC88Cc.4955C>A (p.Ala1652Asp)
c.527C>A (p.Ala176Asp)
n.767C>A
c.1183C>A
c.4847C>A (p.Ala1616Asp)
n.5230C>A
c.2036C>A (p.Ala679Asp)
n.5228C>A
14g.91278026C>ACA390612111CCDC88Cc.4954G>T (p.Ala1652Ser)
c.526G>T (p.Ala176Ser)
n.766G>T
c.1182G>T
c.4846G>T (p.Ala1616Ser)
n.5229G>T
c.2035G>T (p.Ala679Ser)
n.5227G>T
 gnomAD v4
14g.91278026C>GCA390612113CCDC88Cc.4954G>C (p.Ala1652Pro)
c.526G>C (p.Ala176Pro)
n.766G>C
c.1182G>C
c.4846G>C (p.Ala1616Pro)
n.5229G>C
c.2035G>C (p.Ala679Pro)
n.5227G>C
14g.91278026C>TCA390612114CCDC88Cc.4954G>A (p.Ala1652Thr)
c.526G>A (p.Ala176Thr)
n.766G>A
c.1182G>A
c.4846G>A (p.Ala1616Thr)
n.5229G>A
c.2035G>A (p.Ala679Thr)
n.5227G>A
14g.91278027T>ACA487540289CCDC88Cc.4953A>T (p.Thr1651=)
c.525A>T (p.Thr175=)
n.765A>T
c.1181A>T
c.4845A>T (p.Thr1615=)
n.5228A>T
c.2034A>T (p.Thr678=)
n.5226A>T
14g.91278027T>CCA487540290CCDC88Cc.4953A>G (p.Thr1651=)
c.525A>G (p.Thr175=)
n.765A>G
c.1181A>G
c.4845A>G (p.Thr1615=)
n.5228A>G
c.2034A>G (p.Thr678=)
n.5226A>G
 dbSNP gnomAD v4
14g.91278027T>GCA487540291CCDC88Cc.4953A>C (p.Thr1651=)
c.525A>C (p.Thr175=)
n.765A>C
c.1181A>C
c.4845A>C (p.Thr1615=)
n.5228A>C
c.2034A>C (p.Thr678=)
n.5226A>C
14g.91278028G>ACA390612117CCDC88Cc.4952C>T (p.Thr1651Ile)
c.524C>T (p.Thr175Ile)
n.764C>T
c.1180C>T
c.4844C>T (p.Thr1615Ile)
n.5227C>T
c.2033C>T (p.Thr678Ile)
n.5225C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91278028G>CCA390612119CCDC88Cc.4952C>G (p.Thr1651Arg)
c.524C>G (p.Thr175Arg)
n.764C>G
c.1180C>G
c.4844C>G (p.Thr1615Arg)
n.5227C>G
c.2033C>G (p.Thr678Arg)
n.5225C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91278028G=CA2154908854CCDC88Cc.4952C= (p.Thr1651=)
c.524C= (p.Thr175=)
n.764C=
c.1180C=
c.4844C= (p.Thr1615=)
n.5227C=
c.2033C= (p.Thr678=)
n.5225C=
14g.91278028G>TCA390612120CCDC88Cc.4952C>A (p.Thr1651Lys)
c.524C>A (p.Thr175Lys)
n.764C>A
c.1180C>A
c.4844C>A (p.Thr1615Lys)
n.5227C>A
c.2033C>A (p.Thr678Lys)
n.5225C>A
14g.91278029T>ACA390612126CCDC88Cc.4951A>T (p.Thr1651Ser)
c.523A>T (p.Thr175Ser)
n.763A>T
c.1179A>T
c.4843A>T (p.Thr1615Ser)
n.5226A>T
c.2032A>T (p.Thr678Ser)
n.5224A>T
14g.91278029T>CCA390612124CCDC88Cc.4951A>G (p.Thr1651Ala)
c.523A>G (p.Thr175Ala)
n.763A>G
c.1179A>G
c.4843A>G (p.Thr1615Ala)
n.5226A>G
c.2032A>G (p.Thr678Ala)
n.5224A>G
14g.91278029T>GCA390612123CCDC88Cc.4951A>C (p.Thr1651Pro)
c.523A>C (p.Thr175Pro)
n.763A>C
c.1179A>C
c.4843A>C (p.Thr1615Pro)
n.5226A>C
c.2032A>C (p.Thr678Pro)
n.5224A>C
14g.91278030G>ACA487540292CCDC88Cc.4950C>T (p.Gly1650=)
c.522C>T (p.Gly174=)
n.762C>T
c.1178C>T
c.4842C>T (p.Gly1614=)
n.5225C>T
c.2031C>T (p.Gly677=)
n.5223C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91278030G>CCA487540293CCDC88Cc.4950C>G (p.Gly1650=)
c.522C>G (p.Gly174=)
n.762C>G
c.1178C>G
c.4842C>G (p.Gly1614=)
n.5225C>G
c.2031C>G (p.Gly677=)
n.5223C>G
 dbSNP gnomAD v2 gnomAD v4
14g.91278030G=CA2154908855CCDC88Cc.4950C= (p.Gly1650=)
c.522C= (p.Gly174=)
n.762C=
c.1178C=
c.4842C= (p.Gly1614=)
n.5225C=
c.2031C= (p.Gly677=)
n.5223C=
14g.91278030G>TCA487540294CCDC88Cc.4950C>A (p.Gly1650=)
c.522C>A (p.Gly174=)
n.762C>A
c.1178C>A
c.4842C>A (p.Gly1614=)
n.5225C>A
c.2031C>A (p.Gly677=)
n.5223C>A
 dbSNP gnomAD v2 gnomAD v4
14g.91278031C>ACA7308787CCDC88Cc.4949G>T (p.Gly1650Val)
c.521G>T (p.Gly174Val)
n.761G>T
c.1177G>T
c.4841G>T (p.Gly1614Val)
n.5224G>T
c.2030G>T (p.Gly677Val)
n.5222G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278031C=CA2154908856CCDC88Cc.4949G= (p.Gly1650=)
c.521G= (p.Gly174=)
n.761G=
c.1177G=
c.4841G= (p.Gly1614=)
n.5224G=
c.2030G= (p.Gly677=)
n.5222G=
14g.91278031C>GCA390612131CCDC88Cc.4949G>C (p.Gly1650Ala)
c.521G>C (p.Gly174Ala)
n.761G>C
c.1177G>C
c.4841G>C (p.Gly1614Ala)
n.5224G>C
c.2030G>C (p.Gly677Ala)
n.5222G>C
14g.91278031C>TCA390612129CCDC88Cc.4949G>A (p.Gly1650Asp)
c.521G>A (p.Gly174Asp)
n.761G>A
c.1177G>A
c.4841G>A (p.Gly1614Asp)
n.5224G>A
c.2030G>A (p.Gly677Asp)
n.5222G>A
 gnomAD v4
14g.91278032C>ACA390612133CCDC88Cc.4948G>T (p.Gly1650Cys)
c.520G>T (p.Gly174Cys)
n.760G>T
c.1176G>T
c.4840G>T (p.Gly1614Cys)
n.5223G>T
c.2029G>T (p.Gly677Cys)
n.5221G>T
 gnomAD v4
14g.91278032C=CA2154908857CCDC88Cc.4948G= (p.Gly1650=)
c.520G= (p.Gly174=)
n.760G=
c.1176G=
c.4840G= (p.Gly1614=)
n.5223G=
c.2029G= (p.Gly677=)
n.5221G=
14g.91278032C>GCA390612135CCDC88Cc.4948G>C (p.Gly1650Arg)
c.520G>C (p.Gly174Arg)
n.760G>C
c.1176G>C
c.4840G>C (p.Gly1614Arg)
n.5223G>C
c.2029G>C (p.Gly677Arg)
n.5221G>C
14g.91278032C>TCA265523855CCDC88Cc.4948G>A (p.Gly1650Ser)
c.520G>A (p.Gly174Ser)
n.760G>A
c.1176G>A
c.4840G>A (p.Gly1614Ser)
n.5223G>A
c.2029G>A (p.Gly677Ser)
n.5221G>A
 dbSNP
14g.91278032_91278033insACCA709866132CCDC88Cc.4948_4949insTG (p.Gly1650ValfsTer?)
c.520_521insTG (p.Gly174ValfsTer?)
n.760_761insTG
c.1176_1177insTG
c.4840_4841insTG (p.Gly1614ValfsTer?)
n.5223_5224insTG
c.2029_2030insTG (p.Gly677ValfsTer?)
n.5221_5222insTG
 dbSNP gnomAD v3 gnomAD v4
14g.91278033C>ACA390612137CCDC88Cc.4947G>T (p.Arg1649Ser)
c.519G>T (p.Arg173Ser)
n.759G>T
c.1175G>T
c.4839G>T (p.Arg1613Ser)
n.5222G>T
c.2028G>T (p.Arg676Ser)
n.5220G>T
14g.91278033C=CA2154908858CCDC88Cc.4947G= (p.Arg1649=)
c.519G= (p.Arg173=)
n.759G=
c.1175G=
c.4839G= (p.Arg1613=)
n.5222G=
c.2028G= (p.Arg676=)
n.5220G=
14g.91278033C>GCA390612139CCDC88Cc.4947G>C (p.Arg1649Ser)
c.519G>C (p.Arg173Ser)
n.759G>C
c.1175G>C
c.4839G>C (p.Arg1613Ser)
n.5222G>C
c.2028G>C (p.Arg676Ser)
n.5220G>C
14g.91278033C>TCA487540295CCDC88Cc.4947G>A (p.Arg1649=)
c.519G>A (p.Arg173=)
n.759G>A
c.1175G>A
c.4839G>A (p.Arg1613=)
n.5222G>A
c.2028G>A (p.Arg676=)
n.5220G>A
 dbSNP gnomAD v4
14g.91278034C>ACA390612142CCDC88Cc.4946G>T (p.Arg1649Met)
c.518G>T (p.Arg173Met)
n.758G>T
c.1174G>T
c.4838G>T (p.Arg1613Met)
n.5221G>T
c.2027G>T (p.Arg676Met)
n.5219G>T
14g.91278034C>GCA390612143CCDC88Cc.4946G>C (p.Arg1649Thr)
c.518G>C (p.Arg173Thr)
n.758G>C
c.1174G>C
c.4838G>C (p.Arg1613Thr)
n.5221G>C
c.2027G>C (p.Arg676Thr)
n.5219G>C
 gnomAD v4
14g.91278034C>TCA390612145CCDC88Cc.4946G>A (p.Arg1649Lys)
c.518G>A (p.Arg173Lys)
n.758G>A
c.1174G>A
c.4838G>A (p.Arg1613Lys)
n.5221G>A
c.2027G>A (p.Arg676Lys)
n.5219G>A
14g.91278035T>ACA390612147CCDC88Cc.4945A>T (p.Arg1649Trp)
c.517A>T (p.Arg173Trp)
n.757A>T
c.1173A>T
c.4837A>T (p.Arg1613Trp)
n.5220A>T
c.2026A>T (p.Arg676Trp)
n.5218A>T
14g.91278035T>CCA390612149CCDC88Cc.4945A>G (p.Arg1649Gly)
c.517A>G (p.Arg173Gly)
n.757A>G
c.1173A>G
c.4837A>G (p.Arg1613Gly)
n.5220A>G
c.2026A>G (p.Arg676Gly)
n.5218A>G
 dbSNP
14g.91278035T>GCA487540296CCDC88Cc.4945A>C (p.Arg1649=)
c.517A>C (p.Arg173=)
n.757A>C
c.1173A>C
c.4837A>C (p.Arg1613=)
n.5220A>C
c.2026A>C (p.Arg676=)
n.5218A>C
14g.91278035T=CA2154908859CCDC88Cc.4945A= (p.Arg1649=)
c.517A= (p.Arg173=)
n.757A=
c.1173A=
c.4837A= (p.Arg1613=)
n.5220A=
c.2026A= (p.Arg676=)
n.5218A=
14g.91278036C>ACA265523857CCDC88Cc.4944G>T (p.Lys1648Asn)
c.516G>T (p.Lys172Asn)
n.756G>T
c.1172G>T
c.4836G>T (p.Lys1612Asn)
n.5219G>T
c.2025G>T (p.Lys675Asn)
n.5217G>T
 dbSNP gnomAD v4
14g.91278036C=CA2154908860CCDC88Cc.4944G= (p.Lys1648=)
c.516G= (p.Lys172=)
n.756G=
c.1172G=
c.4836G= (p.Lys1612=)
n.5219G=
c.2025G= (p.Lys675=)
n.5217G=
14g.91278036C>GCA390612152CCDC88Cc.4944G>C (p.Lys1648Asn)
c.516G>C (p.Lys172Asn)
n.756G>C
c.1172G>C
c.4836G>C (p.Lys1612Asn)
n.5219G>C
c.2025G>C (p.Lys675Asn)
n.5217G>C
14g.91278036C>TCA487540297CCDC88Cc.4944G>A (p.Lys1648=)
c.516G>A (p.Lys172=)
n.756G>A
c.1172G>A
c.4836G>A (p.Lys1612=)
n.5219G>A
c.2025G>A (p.Lys675=)
n.5217G>A
 COSMIC COSMIC COSMIC
14g.91278037T>ACA390612154CCDC88Cc.4943A>T (p.Lys1648Met)
c.515A>T (p.Lys172Met)
n.755A>T
c.1171A>T
c.4835A>T (p.Lys1612Met)
n.5218A>T
c.2024A>T (p.Lys675Met)
n.5216A>T
14g.91278037T>CCA390612156CCDC88Cc.4943A>G (p.Lys1648Arg)
c.515A>G (p.Lys172Arg)
n.755A>G
c.1171A>G
c.4835A>G (p.Lys1612Arg)
n.5218A>G
c.2024A>G (p.Lys675Arg)
n.5216A>G
14g.91278037T>GCA390612159CCDC88Cc.4943A>C (p.Lys1648Thr)
c.515A>C (p.Lys172Thr)
n.755A>C
c.1171A>C
c.4835A>C (p.Lys1612Thr)
n.5218A>C
c.2024A>C (p.Lys675Thr)
n.5216A>C
14g.91278038T>ACA390612165CCDC88Cc.4942A>T (p.Lys1648Ter)
c.514A>T (p.Lys172Ter)
n.754A>T
c.1170A>T
c.4834A>T (p.Lys1612Ter)
n.5217A>T
c.2023A>T (p.Lys675Ter)
n.5215A>T
14g.91278038T>CCA390612161CCDC88Cc.4942A>G (p.Lys1648Glu)
c.514A>G (p.Lys172Glu)
n.754A>G
c.1170A>G
c.4834A>G (p.Lys1612Glu)
n.5217A>G
c.2023A>G (p.Lys675Glu)
n.5215A>G
14g.91278038T>GCA390612163CCDC88Cc.4942A>C (p.Lys1648Gln)
c.514A>C (p.Lys172Gln)
n.754A>C
c.1170A>C
c.4834A>C (p.Lys1612Gln)
n.5217A>C
c.2023A>C (p.Lys675Gln)
n.5215A>C
14g.91278039C>ACA390612167CCDC88Cc.4941G>T (p.Gln1647His)
c.513G>T (p.Gln171His)
n.753G>T
c.1169G>T
c.4833G>T (p.Gln1611His)
n.5216G>T
c.2022G>T (p.Gln674His)
n.5214G>T
14g.91278039C>GCA390612169CCDC88Cc.4941G>C (p.Gln1647His)
c.513G>C (p.Gln171His)
n.753G>C
c.1169G>C
c.4833G>C (p.Gln1611His)
n.5216G>C
c.2022G>C (p.Gln674His)
n.5214G>C
14g.91278039C>TCA487540298CCDC88Cc.4941G>A (p.Gln1647=)
c.513G>A (p.Gln171=)
n.753G>A
c.1169G>A
c.4833G>A (p.Gln1611=)
n.5216G>A
c.2022G>A (p.Gln674=)
n.5214G>A
14g.91278040T>ACA390612171CCDC88Cc.4940A>T (p.Gln1647Leu)
c.512A>T (p.Gln171Leu)
n.752A>T
c.1168A>T
c.4832A>T (p.Gln1611Leu)
n.5215A>T
c.2021A>T (p.Gln674Leu)
n.5213A>T
14g.91278040T>CCA390612173CCDC88Cc.4940A>G (p.Gln1647Arg)
c.512A>G (p.Gln171Arg)
n.752A>G
c.1168A>G
c.4832A>G (p.Gln1611Arg)
n.5215A>G
c.2021A>G (p.Gln674Arg)
n.5213A>G
 dbSNP gnomAD v4
14g.91278040T>GCA390612174CCDC88Cc.4940A>C (p.Gln1647Pro)
c.512A>C (p.Gln171Pro)
n.752A>C
c.1168A>C
c.4832A>C (p.Gln1611Pro)
n.5215A>C
c.2021A>C (p.Gln674Pro)
n.5213A>C
14g.91278040T=CA2154908861CCDC88Cc.4940A= (p.Gln1647=)
c.512A= (p.Gln171=)
n.752A=
c.1168A=
c.4832A= (p.Gln1611=)
n.5215A=
c.2021A= (p.Gln674=)
n.5213A=
14g.91278041G>ACA390612176CCDC88Cc.4939C>T (p.Gln1647Ter)
c.511C>T (p.Gln171Ter)
n.751C>T
c.1167C>T
c.4831C>T (p.Gln1611Ter)
n.5214C>T
c.2020C>T (p.Gln674Ter)
n.5212C>T
14g.91278041G>CCA390612178CCDC88Cc.4939C>G (p.Gln1647Glu)
c.511C>G (p.Gln171Glu)
n.751C>G
c.1167C>G
c.4831C>G (p.Gln1611Glu)
n.5214C>G
c.2020C>G (p.Gln674Glu)
n.5212C>G
14g.91278041G>TCA390612179CCDC88Cc.4939C>A (p.Gln1647Lys)
c.511C>A (p.Gln171Lys)
n.751C>A
c.1167C>A
c.4831C>A (p.Gln1611Lys)
n.5214C>A
c.2020C>A (p.Gln674Lys)
n.5212C>A
14g.91278042G>ACA487540299CCDC88Cc.4938C>T (p.Ala1646=)
c.510C>T (p.Ala170=)
n.750C>T
c.1166C>T
c.4830C>T (p.Ala1610=)
n.5213C>T
c.2019C>T (p.Ala673=)
n.5211C>T
14g.91278042G>CCA487540300CCDC88Cc.4938C>G (p.Ala1646=)
c.510C>G (p.Ala170=)
n.750C>G
c.1166C>G
c.4830C>G (p.Ala1610=)
n.5213C>G
c.2019C>G (p.Ala673=)
n.5211C>G
14g.91278042G>TCA487540301CCDC88Cc.4938C>A (p.Ala1646=)
c.510C>A (p.Ala170=)
n.750C>A
c.1166C>A
c.4830C>A (p.Ala1610=)
n.5213C>A
c.2019C>A (p.Ala673=)
n.5211C>A
 gnomAD v4
14g.91278043G>ACA7308788CCDC88Cc.4937C>T (p.Ala1646Val)
c.509C>T (p.Ala170Val)
n.749C>T
c.1165C>T
c.4829C>T (p.Ala1610Val)
n.5212C>T
c.2018C>T (p.Ala673Val)
n.5210C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278043G>CCA390612182CCDC88Cc.4937C>G (p.Ala1646Gly)
c.509C>G (p.Ala170Gly)
n.749C>G
c.1165C>G
c.4829C>G (p.Ala1610Gly)
n.5212C>G
c.2018C>G (p.Ala673Gly)
n.5210C>G
14g.91278043G=CA2154908862CCDC88Cc.4937C= (p.Ala1646=)
c.509C= (p.Ala170=)
n.749C=
c.1165C=
c.4829C= (p.Ala1610=)
n.5212C=
c.2018C= (p.Ala673=)
n.5210C=
14g.91278043G>TCA390612183CCDC88Cc.4937C>A (p.Ala1646Asp)
c.509C>A (p.Ala170Asp)
n.749C>A
c.1165C>A
c.4829C>A (p.Ala1610Asp)
n.5212C>A
c.2018C>A (p.Ala673Asp)
n.5210C>A
 gnomAD v4
14g.91278044C>ACA390612188CCDC88Cc.4936G>T (p.Ala1646Ser)
c.508G>T (p.Ala170Ser)
n.748G>T
c.1164G>T
c.4828G>T (p.Ala1610Ser)
n.5211G>T
c.2017G>T (p.Ala673Ser)
n.5209G>T
14g.91278044C=CA2154908863CCDC88Cc.4936G= (p.Ala1646=)
c.508G= (p.Ala170=)
n.748G=
c.1164G=
c.4828G= (p.Ala1610=)
n.5211G=
c.2017G= (p.Ala673=)
n.5209G=
14g.91278044C>GCA7308789CCDC88Cc.4936G>C (p.Ala1646Pro)
c.508G>C (p.Ala170Pro)
n.748G>C
c.1164G>C
c.4828G>C (p.Ala1610Pro)
n.5211G>C
c.2017G>C (p.Ala673Pro)
n.5209G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278044C>TCA390612186CCDC88Cc.4936G>A (p.Ala1646Thr)
c.508G>A (p.Ala170Thr)
n.748G>A
c.1164G>A
c.4828G>A (p.Ala1610Thr)
n.5211G>A
c.2017G>A (p.Ala673Thr)
n.5209G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278045A=CA2154908864CCDC88Cc.4935T= (p.Gly1645=)
c.507T= (p.Gly169=)
n.747T=
c.1163T=
c.4827T= (p.Gly1609=)
n.5210T=
c.2016T= (p.Gly672=)
n.5208T=
14g.91278045A>CCA487540304CCDC88Cc.4935T>G (p.Gly1645=)
c.507T>G (p.Gly169=)
n.747T>G
c.1163T>G
c.4827T>G (p.Gly1609=)
n.5210T>G
c.2016T>G (p.Gly672=)
n.5208T>G
 dbSNP
14g.91278045A>GCA487540303CCDC88Cc.4935T>C (p.Gly1645=)
c.507T>C (p.Gly169=)
n.747T>C
c.1163T>C
c.4827T>C (p.Gly1609=)
n.5210T>C
c.2016T>C (p.Gly672=)
n.5208T>C
 gnomAD v4
14g.91278045A>TCA487540302CCDC88Cc.4935T>A (p.Gly1645=)
c.507T>A (p.Gly169=)
n.747T>A
c.1163T>A
c.4827T>A (p.Gly1609=)
n.5210T>A
c.2016T>A (p.Gly672=)
n.5208T>A
14g.91278046C>ACA390612193CCDC88Cc.4934G>T (p.Gly1645Val)
c.506G>T (p.Gly169Val)
n.746G>T
c.1162G>T
c.4826G>T (p.Gly1609Val)
n.5209G>T
c.2015G>T (p.Gly672Val)
n.5207G>T
14g.91278046C=CA2154908865CCDC88Cc.4934G= (p.Gly1645=)
c.506G= (p.Gly169=)
n.746G=
c.1162G=
c.4826G= (p.Gly1609=)
n.5209G=
c.2015G= (p.Gly672=)
n.5207G=
14g.91278046C>GCA390612190CCDC88Cc.4934G>C (p.Gly1645Ala)
c.506G>C (p.Gly169Ala)
n.746G>C
c.1162G>C
c.4826G>C (p.Gly1609Ala)
n.5209G>C
c.2015G>C (p.Gly672Ala)
n.5207G>C
 gnomAD v4
14g.91278046C>TCA390612192CCDC88Cc.4934G>A (p.Gly1645Asp)
c.506G>A (p.Gly169Asp)
n.746G>A
c.1162G>A
c.4826G>A (p.Gly1609Asp)
n.5209G>A
c.2015G>A (p.Gly672Asp)
n.5207G>A
 dbSNP gnomAD v2 gnomAD v4
14g.91278047C>ACA390612196CCDC88Cc.4933G>T (p.Gly1645Cys)
c.505G>T (p.Gly169Cys)
n.745G>T
c.1161G>T
c.4825G>T (p.Gly1609Cys)
n.5208G>T
c.2014G>T (p.Gly672Cys)
n.5206G>T
14g.91278047C=CA2154908866CCDC88Cc.4933G= (p.Gly1645=)
c.505G= (p.Gly169=)
n.745G=
c.1161G=
c.4825G= (p.Gly1609=)
n.5208G=
c.2014G= (p.Gly672=)
n.5206G=
14g.91278047C>GCA390612198CCDC88Cc.4933G>C (p.Gly1645Arg)
c.505G>C (p.Gly169Arg)
n.745G>C
c.1161G>C
c.4825G>C (p.Gly1609Arg)
n.5208G>C
c.2014G>C (p.Gly672Arg)
n.5206G>C
14g.91278047C>TCA390612199CCDC88Cc.4933G>A (p.Gly1645Ser)
c.505G>A (p.Gly169Ser)
n.745G>A
c.1161G>A
c.4825G>A (p.Gly1609Ser)
n.5208G>A
c.2014G>A (p.Gly672Ser)
n.5206G>A
 dbSNP gnomAD v2 gnomAD v4
14g.91278048C>ACA390612202CCDC88Cc.4932G>T (p.Glu1644Asp)
c.504G>T (p.Glu168Asp)
n.744G>T
c.1160G>T
c.4824G>T (p.Glu1608Asp)
n.5207G>T
c.2013G>T (p.Glu671Asp)
n.5205G>T
 gnomAD v4
14g.91278048C=CA2154908867CCDC88Cc.4932G= (p.Glu1644=)
c.504G= (p.Glu168=)
n.744G=
c.1160G=
c.4824G= (p.Glu1608=)
n.5207G=
c.2013G= (p.Glu671=)
n.5205G=
14g.91278048C>GCA390612203CCDC88Cc.4932G>C (p.Glu1644Asp)
c.504G>C (p.Glu168Asp)
n.744G>C
c.1160G>C
c.4824G>C (p.Glu1608Asp)
n.5207G>C
c.2013G>C (p.Glu671Asp)
n.5205G>C
14g.91278048C>TCA487540306CCDC88Cc.4932G>A (p.Glu1644=)
c.504G>A (p.Glu168=)
n.744G>A
c.1160G>A
c.4824G>A (p.Glu1608=)
n.5207G>A
c.2013G>A (p.Glu671=)
n.5205G>A
 ClinVar dbSNP gnomAD v4
14g.91278049T>ACA390612205CCDC88Cc.4931A>T (p.Glu1644Val)
c.503A>T (p.Glu168Val)
n.743A>T
c.1159A>T
c.4823A>T (p.Glu1608Val)
n.5206A>T
c.2012A>T (p.Glu671Val)
n.5204A>T
 dbSNP gnomAD v4
14g.91278049T>CCA390612207CCDC88Cc.4931A>G (p.Glu1644Gly)
c.503A>G (p.Glu168Gly)
n.743A>G
c.1159A>G
c.4823A>G (p.Glu1608Gly)
n.5206A>G
c.2012A>G (p.Glu671Gly)
n.5204A>G
14g.91278049T>GCA390612208CCDC88Cc.4931A>C (p.Glu1644Ala)
c.503A>C (p.Glu168Ala)
n.743A>C
c.1159A>C
c.4823A>C (p.Glu1608Ala)
n.5206A>C
c.2012A>C (p.Glu671Ala)
n.5204A>C
 gnomAD v4
14g.91278049T=CA2154908868CCDC88Cc.4931A= (p.Glu1644=)
c.503A= (p.Glu168=)
n.743A=
c.1159A=
c.4823A= (p.Glu1608=)
n.5206A=
c.2012A= (p.Glu671=)
n.5204A=
14g.91278050C>ACA390612210CCDC88Cc.4930G>T (p.Glu1644Ter)
c.502G>T (p.Glu168Ter)
n.742G>T
c.1158G>T
c.4822G>T (p.Glu1608Ter)
n.5205G>T
c.2011G>T (p.Glu671Ter)
n.5203G>T
14g.91278050C=CA2154908869CCDC88Cc.4930G= (p.Glu1644=)
c.502G= (p.Glu168=)
n.742G=
c.1158G=
c.4822G= (p.Glu1608=)
n.5205G=
c.2011G= (p.Glu671=)
n.5203G=
14g.91278050C>GCA390612212CCDC88Cc.4930G>C (p.Glu1644Gln)
c.502G>C (p.Glu168Gln)
n.742G>C
c.1158G>C
c.4822G>C (p.Glu1608Gln)
n.5205G>C
c.2011G>C (p.Glu671Gln)
n.5203G>C
 gnomAD v4
14g.91278050C>TCA390612214CCDC88Cc.4930G>A (p.Glu1644Lys)
c.502G>A (p.Glu168Lys)
n.742G>A
c.1158G>A
c.4822G>A (p.Glu1608Lys)
n.5205G>A
c.2011G>A (p.Glu671Lys)
n.5203G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278051C>ACA390612219CCDC88Cc.4929G>T (p.Gln1643His)
c.501G>T (p.Gln167His)
n.741G>T
c.1157G>T
c.4821G>T (p.Gln1607His)
n.5204G>T
c.2010G>T (p.Gln670His)
n.5202G>T
14g.91278051C=CA2154908870CCDC88Cc.4929G= (p.Gln1643=)
c.501G= (p.Gln167=)
n.741G=
c.1157G=
c.4821G= (p.Gln1607=)
n.5204G=
c.2010G= (p.Gln670=)
n.5202G=
14g.91278051C>GCA390612216CCDC88Cc.4929G>C (p.Gln1643His)
c.501G>C (p.Gln167His)
n.741G>C
c.1157G>C
c.4821G>C (p.Gln1607His)
n.5204G>C
c.2010G>C (p.Gln670His)
n.5202G>C
14g.91278051C>TCA7308790CCDC88Cc.4929G>A (p.Gln1643=)
c.501G>A (p.Gln167=)
n.741G>A
c.1157G>A
c.4821G>A (p.Gln1607=)
n.5204G>A
c.2010G>A (p.Gln670=)
n.5202G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278052T>ACA390612222CCDC88Cc.4928A>T (p.Gln1643Leu)
c.500A>T (p.Gln167Leu)
n.740A>T
c.1156A>T
c.4820A>T (p.Gln1607Leu)
n.5203A>T
c.2009A>T (p.Gln670Leu)
n.5201A>T
14g.91278052T>CCA390612223CCDC88Cc.4928A>G (p.Gln1643Arg)
c.500A>G (p.Gln167Arg)
n.740A>G
c.1156A>G
c.4820A>G (p.Gln1607Arg)
n.5203A>G
c.2009A>G (p.Gln670Arg)
n.5201A>G
 gnomAD v4
14g.91278052T>GCA390612225CCDC88Cc.4928A>C (p.Gln1643Pro)
c.500A>C (p.Gln167Pro)
n.740A>C
c.1156A>C
c.4820A>C (p.Gln1607Pro)
n.5203A>C
c.2009A>C (p.Gln670Pro)
n.5201A>C
14g.91278053G>ACA390612227CCDC88Cc.4927C>T (p.Gln1643Ter)
c.499C>T (p.Gln167Ter)
n.739C>T
c.1155C>T
c.4819C>T (p.Gln1607Ter)
n.5202C>T
c.2008C>T (p.Gln670Ter)
n.5200C>T
14g.91278053G>CCA390612229CCDC88Cc.4927C>G (p.Gln1643Glu)
c.499C>G (p.Gln167Glu)
n.739C>G
c.1155C>G
c.4819C>G (p.Gln1607Glu)
n.5202C>G
c.2008C>G (p.Gln670Glu)
n.5200C>G
14g.91278053G>TCA390612230CCDC88Cc.4927C>A (p.Gln1643Lys)
c.499C>A (p.Gln167Lys)
n.739C>A
c.1155C>A
c.4819C>A (p.Gln1607Lys)
n.5202C>A
c.2008C>A (p.Gln670Lys)
n.5200C>A
14g.91278054T>ACA487540307CCDC88Cc.4926A>T (p.Pro1642=)
c.498A>T (p.Pro166=)
n.738A>T
c.1154A>T
c.4818A>T (p.Pro1606=)
n.5201A>T
c.2007A>T (p.Pro669=)
n.5199A>T
14g.91278054T>CCA487540308CCDC88Cc.4926A>G (p.Pro1642=)
c.498A>G (p.Pro166=)
n.738A>G
c.1154A>G
c.4818A>G (p.Pro1606=)
n.5201A>G
c.2007A>G (p.Pro669=)
n.5199A>G
14g.91278054T>GCA487540309CCDC88Cc.4926A>C (p.Pro1642=)
c.498A>C (p.Pro166=)
n.738A>C
c.1154A>C
c.4818A>C (p.Pro1606=)
n.5201A>C
c.2007A>C (p.Pro669=)
n.5199A>C
14g.91278055G>ACA390612233CCDC88Cc.4925C>T (p.Pro1642Leu)
c.497C>T (p.Pro166Leu)
n.737C>T
c.1153C>T
c.4817C>T (p.Pro1606Leu)
n.5200C>T
c.2006C>T (p.Pro669Leu)
n.5198C>T
14g.91278055G>CCA390612235CCDC88Cc.4925C>G (p.Pro1642Arg)
c.497C>G (p.Pro166Arg)
n.737C>G
c.1153C>G
c.4817C>G (p.Pro1606Arg)
n.5200C>G
c.2006C>G (p.Pro669Arg)
n.5198C>G
14g.91278055G>TCA390612237CCDC88Cc.4925C>A (p.Pro1642Gln)
c.497C>A (p.Pro166Gln)
n.737C>A
c.1153C>A
c.4817C>A (p.Pro1606Gln)
n.5200C>A
c.2006C>A (p.Pro669Gln)
n.5198C>A
14g.91278056G>ACA390612239CCDC88Cc.4924C>T (p.Pro1642Ser)
c.496C>T (p.Pro166Ser)
n.736C>T
c.1152C>T
c.4816C>T (p.Pro1606Ser)
n.5199C>T
c.2005C>T (p.Pro669Ser)
n.5197C>T
14g.91278056G>CCA390612240CCDC88Cc.4924C>G (p.Pro1642Ala)
c.496C>G (p.Pro166Ala)
n.736C>G
c.1152C>G
c.4816C>G (p.Pro1606Ala)
n.5199C>G
c.2005C>G (p.Pro669Ala)
n.5197C>G
14g.91278056G>TCA390612242CCDC88Cc.4924C>A (p.Pro1642Thr)
c.496C>A (p.Pro166Thr)
n.736C>A
c.1152C>A
c.4816C>A (p.Pro1606Thr)
n.5199C>A
c.2005C>A (p.Pro669Thr)
n.5197C>A
14g.91278057G>ACA487540310CCDC88Cc.4923C>T (p.Leu1641=)
c.495C>T (p.Leu165=)
n.735C>T
c.1151C>T
c.4815C>T (p.Leu1605=)
n.5198C>T
c.2004C>T (p.Leu668=)
n.5196C>T
 gnomAD v4
14g.91278057G>CCA487540311CCDC88Cc.4923C>G (p.Leu1641=)
c.495C>G (p.Leu165=)
n.735C>G
c.1151C>G
c.4815C>G (p.Leu1605=)
n.5198C>G
c.2004C>G (p.Leu668=)
n.5196C>G
 dbSNP gnomAD v3 gnomAD v4
14g.91278057G=CA2154908871CCDC88Cc.4923C= (p.Leu1641=)
c.495C= (p.Leu165=)
n.735C=
c.1151C=
c.4815C= (p.Leu1605=)
n.5198C=
c.2004C= (p.Leu668=)
n.5196C=
14g.91278057G>TCA487540312CCDC88Cc.4923C>A (p.Leu1641=)
c.495C>A (p.Leu165=)
n.735C>A
c.1151C>A
c.4815C>A (p.Leu1605=)
n.5198C>A
c.2004C>A (p.Leu668=)
n.5196C>A
 gnomAD v4
14g.91278058A>CCA390612246CCDC88Cc.4922T>G (p.Leu1641Arg)
c.494T>G (p.Leu165Arg)
n.734T>G
c.1150T>G
c.4814T>G (p.Leu1605Arg)
n.5197T>G
c.2003T>G (p.Leu668Arg)
n.5195T>G
14g.91278058A>GCA390612248CCDC88Cc.4922T>C (p.Leu1641Pro)
c.494T>C (p.Leu165Pro)
n.734T>C
c.1150T>C
c.4814T>C (p.Leu1605Pro)
n.5197T>C
c.2003T>C (p.Leu668Pro)
n.5195T>C
14g.91278058A>TCA390612245CCDC88Cc.4922T>A (p.Leu1641His)
c.494T>A (p.Leu165His)
n.734T>A
c.1150T>A
c.4814T>A (p.Leu1605His)
n.5197T>A
c.2003T>A (p.Leu668His)
n.5195T>A
14g.91278059G>ACA390612250CCDC88Cc.4921C>T (p.Leu1641Phe)
c.493C>T (p.Leu165Phe)
n.733C>T
c.1149C>T
c.4813C>T (p.Leu1605Phe)
n.5196C>T
c.2002C>T (p.Leu668Phe)
n.5194C>T
14g.91278059G>CCA390612254CCDC88Cc.4921C>G (p.Leu1641Val)
c.493C>G (p.Leu165Val)
n.733C>G
c.1149C>G
c.4813C>G (p.Leu1605Val)
n.5196C>G
c.2002C>G (p.Leu668Val)
n.5194C>G
 dbSNP
14g.91278059G=CA2154908872CCDC88Cc.4921C= (p.Leu1641=)
c.493C= (p.Leu165=)
n.733C=
c.1149C=
c.4813C= (p.Leu1605=)
n.5196C=
c.2002C= (p.Leu668=)
n.5194C=
14g.91278059G>TCA390612252CCDC88Cc.4921C>A (p.Leu1641Ile)
c.493C>A (p.Leu165Ile)
n.733C>A
c.1149C>A
c.4813C>A (p.Leu1605Ile)
n.5196C>A
c.2002C>A (p.Leu668Ile)
n.5194C>A
 gnomAD v4
14g.91278060A=CA2154908873CCDC88Cc.4920T= (p.Pro1640=)
c.492T= (p.Pro164=)
n.732T=
c.1148T=
c.4812T= (p.Pro1604=)
n.5195T=
c.2001T= (p.Pro667=)
n.5193T=
14g.91278060A>CCA487540313CCDC88Cc.4920T>G (p.Pro1640=)
c.492T>G (p.Pro164=)
n.732T>G
c.1148T>G
c.4812T>G (p.Pro1604=)
n.5195T>G
c.2001T>G (p.Pro667=)
n.5193T>G
14g.91278060A>GCA7308791CCDC88Cc.4920T>C (p.Pro1640=)
c.492T>C (p.Pro164=)
n.732T>C
c.1148T>C
c.4812T>C (p.Pro1604=)
n.5195T>C
c.2001T>C (p.Pro667=)
n.5193T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278060A>TCA487540314CCDC88Cc.4920T>A (p.Pro1640=)
c.492T>A (p.Pro164=)
n.732T>A
c.1148T>A
c.4812T>A (p.Pro1604=)
n.5195T>A
c.2001T>A (p.Pro667=)
n.5193T>A
14g.91278061G>ACA390612257CCDC88Cc.4919C>T (p.Pro1640Leu)
c.491C>T (p.Pro164Leu)
n.731C>T
c.1147C>T
c.4811C>T (p.Pro1604Leu)
n.5194C>T
c.2000C>T (p.Pro667Leu)
n.5192C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91278061G>CCA390612259CCDC88Cc.4919C>G (p.Pro1640Arg)
c.491C>G (p.Pro164Arg)
n.731C>G
c.1147C>G
c.4811C>G (p.Pro1604Arg)
n.5194C>G
c.2000C>G (p.Pro667Arg)
n.5192C>G
14g.91278061G=CA2154908874CCDC88Cc.4919C= (p.Pro1640=)
c.491C= (p.Pro164=)
n.731C=
c.1147C=
c.4811C= (p.Pro1604=)
n.5194C=
c.2000C= (p.Pro667=)
n.5192C=
14g.91278061G>TCA390612261CCDC88Cc.4919C>A (p.Pro1640His)
c.491C>A (p.Pro164His)
n.731C>A
c.1147C>A
c.4811C>A (p.Pro1604His)
n.5194C>A
c.2000C>A (p.Pro667His)
n.5192C>A
 gnomAD v4
14g.91278062G>ACA390612264CCDC88Cc.4918C>T (p.Pro1640Ser)
c.490C>T (p.Pro164Ser)
n.730C>T
c.1146C>T
c.4810C>T (p.Pro1604Ser)
n.5193C>T
c.1999C>T (p.Pro667Ser)
n.5191C>T
 dbSNP
14g.91278062G>CCA390612265CCDC88Cc.4918C>G (p.Pro1640Ala)
c.490C>G (p.Pro164Ala)
n.730C>G
c.1146C>G
c.4810C>G (p.Pro1604Ala)
n.5193C>G
c.1999C>G (p.Pro667Ala)
n.5191C>G
14g.91278062G=CA2154908875CCDC88Cc.4918C= (p.Pro1640=)
c.490C= (p.Pro164=)
n.730C=
c.1146C=
c.4810C= (p.Pro1604=)
n.5193C=
c.1999C= (p.Pro667=)
n.5191C=
14g.91278062G>TCA7308792CCDC88Cc.4918C>A (p.Pro1640Thr)
c.490C>A (p.Pro164Thr)
n.730C>A
c.1146C>A
c.4810C>A (p.Pro1604Thr)
n.5193C>A
c.1999C>A (p.Pro667Thr)
n.5191C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278063C>ACA487540316CCDC88Cc.4917G>T (p.Gly1639=)
c.489G>T (p.Gly163=)
n.729G>T
c.1145G>T
c.4809G>T (p.Gly1603=)
n.5192G>T
c.1998G>T (p.Gly666=)
n.5190G>T
14g.91278063C=CA2154908876CCDC88Cc.4917G= (p.Gly1639=)
c.489G= (p.Gly163=)
n.729G=
c.1145G=
c.4809G= (p.Gly1603=)
n.5192G=
c.1998G= (p.Gly666=)
n.5190G=
14g.91278063C>GCA7308793CCDC88Cc.4917G>C (p.Gly1639=)
c.489G>C (p.Gly163=)
n.729G>C
c.1145G>C
c.4809G>C (p.Gly1603=)
n.5192G>C
c.1998G>C (p.Gly666=)
n.5190G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278063C>TCA265523909CCDC88Cc.4917G>A (p.Gly1639=)
c.489G>A (p.Gly163=)
n.729G>A
c.1145G>A
c.4809G>A (p.Gly1603=)
n.5192G>A
c.1998G>A (p.Gly666=)
n.5190G>A
 dbSNP gnomAD v4
14g.91278064C>ACA390612269CCDC88Cc.4916G>T (p.Gly1639Val)
c.488G>T (p.Gly163Val)
n.728G>T
c.1144G>T
c.4808G>T (p.Gly1603Val)
n.5191G>T
c.1997G>T (p.Gly666Val)
n.5189G>T
 dbSNP gnomAD v3 gnomAD v4
14g.91278064C=CA2154908877CCDC88Cc.4916G= (p.Gly1639=)
c.488G= (p.Gly163=)
n.728G=
c.1144G=
c.4808G= (p.Gly1603=)
n.5191G=
c.1997G= (p.Gly666=)
n.5189G=
14g.91278064C>GCA390612270CCDC88Cc.4916G>C (p.Gly1639Ala)
c.488G>C (p.Gly163Ala)
n.728G>C
c.1144G>C
c.4808G>C (p.Gly1603Ala)
n.5191G>C
c.1997G>C (p.Gly666Ala)
n.5189G>C
14g.91278064C>TCA390612271CCDC88Cc.4916G>A (p.Gly1639Glu)
c.488G>A (p.Gly163Glu)
n.728G>A
c.1144G>A
c.4808G>A (p.Gly1603Glu)
n.5191G>A
c.1997G>A (p.Gly666Glu)
n.5189G>A
14g.91278065C>ACA390612274CCDC88Cc.4915G>T (p.Gly1639Trp)
c.487G>T (p.Gly163Trp)
n.727G>T
c.1143G>T
c.4807G>T (p.Gly1603Trp)
n.5190G>T
c.1996G>T (p.Gly666Trp)
n.5188G>T
14g.91278065C=CA2154908878CCDC88Cc.4915G= (p.Gly1639=)
c.487G= (p.Gly163=)
n.727G=
c.1143G=
c.4807G= (p.Gly1603=)
n.5190G=
c.1996G= (p.Gly666=)
n.5188G=
14g.91278065C>GCA390612272CCDC88Cc.4915G>C (p.Gly1639Arg)
c.487G>C (p.Gly163Arg)
n.727G>C
c.1143G>C
c.4807G>C (p.Gly1603Arg)
n.5190G>C
c.1996G>C (p.Gly666Arg)
n.5188G>C
 COSMIC
14g.91278065C>TCA7308794CCDC88Cc.4915G>A (p.Gly1639Arg)
c.487G>A (p.Gly163Arg)
n.727G>A
c.1143G>A
c.4807G>A (p.Gly1603Arg)
n.5190G>A
c.1996G>A (p.Gly666Arg)
n.5188G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278066G>ACA7308795CCDC88Cc.4914C>T (p.Asn1638=)
c.486C>T (p.Asn162=)
n.726C>T
c.1142C>T
c.4806C>T (p.Asn1602=)
n.5189C>T
c.1995C>T (p.Asn665=)
n.5187C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278066G>CCA390612277CCDC88Cc.4914C>G (p.Asn1638Lys)
c.486C>G (p.Asn162Lys)
n.726C>G
c.1142C>G
c.4806C>G (p.Asn1602Lys)
n.5189C>G
c.1995C>G (p.Asn665Lys)
n.5187C>G
14g.91278066G=CA2154908879CCDC88Cc.4914C= (p.Asn1638=)
c.486C= (p.Asn162=)
n.726C=
c.1142C=
c.4806C= (p.Asn1602=)
n.5189C=
c.1995C= (p.Asn665=)
n.5187C=
14g.91278066G>TCA390612279CCDC88Cc.4914C>A (p.Asn1638Lys)
c.486C>A (p.Asn162Lys)
n.726C>A
c.1142C>A
c.4806C>A (p.Asn1602Lys)
n.5189C>A
c.1995C>A (p.Asn665Lys)
n.5187C>A
14g.91278067T>ACA390612281CCDC88Cc.4913A>T (p.Asn1638Ile)
c.485A>T (p.Asn162Ile)
n.725A>T
c.1141A>T
c.4805A>T (p.Asn1602Ile)
n.5188A>T
c.1994A>T (p.Asn665Ile)
n.5186A>T
14g.91278067T>CCA7308796CCDC88Cc.4913A>G (p.Asn1638Ser)
c.485A>G (p.Asn162Ser)
n.725A>G
c.1141A>G
c.4805A>G (p.Asn1602Ser)
n.5188A>G
c.1994A>G (p.Asn665Ser)
n.5186A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278067T>GCA390612284CCDC88Cc.4913A>C (p.Asn1638Thr)
c.485A>C (p.Asn162Thr)
n.725A>C
c.1141A>C
c.4805A>C (p.Asn1602Thr)
n.5188A>C
c.1994A>C (p.Asn665Thr)
n.5186A>C
14g.91278067T=CA2154908880CCDC88Cc.4913A= (p.Asn1638=)
c.485A= (p.Asn162=)
n.725A=
c.1141A=
c.4805A= (p.Asn1602=)
n.5188A=
c.1994A= (p.Asn665=)
n.5186A=
14g.91278068T>ACA390612286CCDC88Cc.4912A>T (p.Asn1638Tyr)
c.484A>T (p.Asn162Tyr)
n.724A>T
c.1140A>T
c.4804A>T (p.Asn1602Tyr)
n.5187A>T
c.1993A>T (p.Asn665Tyr)
n.5185A>T
14g.91278068T>CCA390612288CCDC88Cc.4912A>G (p.Asn1638Asp)
c.484A>G (p.Asn162Asp)
n.724A>G
c.1140A>G
c.4804A>G (p.Asn1602Asp)
n.5187A>G
c.1993A>G (p.Asn665Asp)
n.5185A>G
14g.91278068T>GCA390612290CCDC88Cc.4912A>C (p.Asn1638His)
c.484A>C (p.Asn162His)
n.724A>C
c.1140A>C
c.4804A>C (p.Asn1602His)
n.5187A>C
c.1993A>C (p.Asn665His)
n.5185A>C
14g.91278069C>ACA487540317CCDC88Cc.4911G>T (p.Arg1637=)
c.483G>T (p.Arg161=)
n.723G>T
c.1139G>T
c.4803G>T (p.Arg1601=)
n.5186G>T
c.1992G>T (p.Arg664=)
n.5184G>T
 gnomAD v4
14g.91278069C=CA2154908881CCDC88Cc.4911G= (p.Arg1637=)
c.483G= (p.Arg161=)
n.723G=
c.1139G=
c.4803G= (p.Arg1601=)
n.5186G=
c.1992G= (p.Arg664=)
n.5184G=
14g.91278069C>GCA487540318CCDC88Cc.4911G>C (p.Arg1637=)
c.483G>C (p.Arg161=)
n.723G>C
c.1139G>C
c.4803G>C (p.Arg1601=)
n.5186G>C
c.1992G>C (p.Arg664=)
n.5184G>C
14g.91278069C>TCA7308797CCDC88Cc.4911G>A (p.Arg1637=)
c.483G>A (p.Arg161=)
n.723G>A
c.1139G>A
c.4803G>A (p.Arg1601=)
n.5186G>A
c.1992G>A (p.Arg664=)
n.5184G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278070C>ACA390612294CCDC88Cc.4910G>T (p.Arg1637Leu)
c.482G>T (p.Arg161Leu)
n.722G>T
c.1138G>T
c.4802G>T (p.Arg1601Leu)
n.5185G>T
c.1991G>T (p.Arg664Leu)
n.5183G>T
14g.91278070C=CA2154908882CCDC88Cc.4910G= (p.Arg1637=)
c.482G= (p.Arg161=)
n.722G=
c.1138G=
c.4802G= (p.Arg1601=)
n.5185G=
c.1991G= (p.Arg664=)
n.5183G=
14g.91278070C>GCA390612296CCDC88Cc.4910G>C (p.Arg1637Pro)
c.482G>C (p.Arg161Pro)
n.722G>C
c.1138G>C
c.4802G>C (p.Arg1601Pro)
n.5185G>C
c.1991G>C (p.Arg664Pro)
n.5183G>C
14g.91278070C>TCA7308798CCDC88Cc.4910G>A (p.Arg1637Gln)
c.482G>A (p.Arg161Gln)
n.722G>A
c.1138G>A
c.4802G>A (p.Arg1601Gln)
n.5185G>A
c.1991G>A (p.Arg664Gln)
n.5183G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278071G>ACA7308799CCDC88Cc.4909C>T (p.Arg1637Trp)
c.481C>T (p.Arg161Trp)
n.721C>T
c.1137C>T
c.4801C>T (p.Arg1601Trp)
n.5184C>T
c.1990C>T (p.Arg664Trp)
n.5182C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278071G>CCA390612299CCDC88Cc.4909C>G (p.Arg1637Gly)
c.481C>G (p.Arg161Gly)
n.721C>G
c.1137C>G
c.4801C>G (p.Arg1601Gly)
n.5184C>G
c.1990C>G (p.Arg664Gly)
n.5182C>G
14g.91278071G=CA2154908883CCDC88Cc.4909C= (p.Arg1637=)
c.481C= (p.Arg161=)
n.721C=
c.1137C=
c.4801C= (p.Arg1601=)
n.5184C=
c.1990C= (p.Arg664=)
n.5182C=
14g.91278071G>TCA487540319CCDC88Cc.4909C>A (p.Arg1637=)
c.481C>A (p.Arg161=)
n.721C>A
c.1137C>A
c.4801C>A (p.Arg1601=)
n.5184C>A
c.1990C>A (p.Arg664=)
n.5182C>A
14g.91278072A>CCA487540321CCDC88Cc.4908T>G (p.Pro1636=)
c.480T>G (p.Pro160=)
n.720T>G
c.1136T>G
c.4800T>G (p.Pro1600=)
n.5183T>G
c.1989T>G (p.Pro663=)
n.5181T>G
14g.91278072A>GCA487540322CCDC88Cc.4908T>C (p.Pro1636=)
c.480T>C (p.Pro160=)
n.720T>C
c.1136T>C
c.4800T>C (p.Pro1600=)
n.5183T>C
c.1989T>C (p.Pro663=)
n.5181T>C
14g.91278072A>TCA487540320CCDC88Cc.4908T>A (p.Pro1636=)
c.480T>A (p.Pro160=)
n.720T>A
c.1136T>A
c.4800T>A (p.Pro1600=)
n.5183T>A
c.1989T>A (p.Pro663=)
n.5181T>A
14g.91278073G>ACA390612301CCDC88Cc.4907C>T (p.Pro1636Leu)
c.479C>T (p.Pro160Leu)
n.719C>T
c.1135C>T
c.4799C>T (p.Pro1600Leu)
n.5182C>T
c.1988C>T (p.Pro663Leu)
n.5180C>T
14g.91278073G>CCA390612303CCDC88Cc.4907C>G (p.Pro1636Arg)
c.479C>G (p.Pro160Arg)
n.719C>G
c.1135C>G
c.4799C>G (p.Pro1600Arg)
n.5182C>G
c.1988C>G (p.Pro663Arg)
n.5180C>G
14g.91278073G>TCA390612305CCDC88Cc.4907C>A (p.Pro1636His)
c.479C>A (p.Pro160His)
n.719C>A
c.1135C>A
c.4799C>A (p.Pro1600His)
n.5182C>A
c.1988C>A (p.Pro663His)
n.5180C>A
 gnomAD v4
14g.91278074G>ACA390612307CCDC88Cc.4906C>T (p.Pro1636Ser)
c.478C>T (p.Pro160Ser)
n.718C>T
c.1134C>T
c.4798C>T (p.Pro1600Ser)
n.5181C>T
c.1987C>T (p.Pro663Ser)
n.5179C>T
 gnomAD v4
14g.91278074G>CCA390612309CCDC88Cc.4906C>G (p.Pro1636Ala)
c.478C>G (p.Pro160Ala)
n.718C>G
c.1134C>G
c.4798C>G (p.Pro1600Ala)
n.5181C>G
c.1987C>G (p.Pro663Ala)
n.5179C>G
14g.91278074G>TCA390612311CCDC88Cc.4906C>A (p.Pro1636Thr)
c.478C>A (p.Pro160Thr)
n.718C>A
c.1134C>A
c.4798C>A (p.Pro1600Thr)
n.5181C>A
c.1987C>A (p.Pro663Thr)
n.5179C>A
14g.91278075C>ACA390612313CCDC88Cc.4905G>T (p.Leu1635Phe)
c.477G>T (p.Leu159Phe)
n.717G>T
c.1133G>T
c.4797G>T (p.Leu1599Phe)
n.5180G>T
c.1986G>T (p.Leu662Phe)
n.5178G>T
14g.91278075C>GCA390612314CCDC88Cc.4905G>C (p.Leu1635Phe)
c.477G>C (p.Leu159Phe)
n.717G>C
c.1133G>C
c.4797G>C (p.Leu1599Phe)
n.5180G>C
c.1986G>C (p.Leu662Phe)
n.5178G>C
14g.91278075C>TCA487540326CCDC88Cc.4905G>A (p.Leu1635=)
c.477G>A (p.Leu159=)
n.717G>A
c.1133G>A
c.4797G>A (p.Leu1599=)
n.5180G>A
c.1986G>A (p.Leu662=)
n.5178G>A
14g.91278076A=CA2154908884CCDC88Cc.4904T= (p.Leu1635=)
c.476T= (p.Leu159=)
n.716T=
c.1132T=
c.4796T= (p.Leu1599=)
n.5179T=
c.1985T= (p.Leu662=)
n.5177T=
14g.91278076A>CCA390612316CCDC88Cc.4904T>G (p.Leu1635Trp)
c.476T>G (p.Leu159Trp)
n.716T>G
c.1132T>G
c.4796T>G (p.Leu1599Trp)
n.5179T>G
c.1985T>G (p.Leu662Trp)
n.5177T>G
 dbSNP
14g.91278076A>GCA390612318CCDC88Cc.4904T>C (p.Leu1635Ser)
c.476T>C (p.Leu159Ser)
n.716T>C
c.1132T>C
c.4796T>C (p.Leu1599Ser)
n.5179T>C
c.1985T>C (p.Leu662Ser)
n.5177T>C
14g.91278076A>TCA390612319CCDC88Cc.4904T>A (p.Leu1635Ter)
c.476T>A (p.Leu159Ter)
n.716T>A
c.1132T>A
c.4796T>A (p.Leu1599Ter)
n.5179T>A
c.1985T>A (p.Leu662Ter)
n.5177T>A
14g.91278077A>CCA390612323CCDC88Cc.4903T>G (p.Leu1635Val)
c.475T>G (p.Leu159Val)
n.715T>G
c.1131T>G
c.4795T>G (p.Leu1599Val)
n.5178T>G
c.1984T>G (p.Leu662Val)
n.5176T>G
14g.91278077A>GCA487540328CCDC88Cc.4903T>C (p.Leu1635=)
c.475T>C (p.Leu159=)
n.715T>C
c.1131T>C
c.4795T>C (p.Leu1599=)
n.5178T>C
c.1984T>C (p.Leu662=)
n.5176T>C
 gnomAD v4
14g.91278077A>TCA390612321CCDC88Cc.4903T>A (p.Leu1635Met)
c.475T>A (p.Leu159Met)
n.715T>A
c.1131T>A
c.4795T>A (p.Leu1599Met)
n.5178T>A
c.1984T>A (p.Leu662Met)
n.5176T>A
14g.91278078G>ACA487540329CCDC88Cc.4902C>T (p.Pro1634=)
c.474C>T (p.Pro158=)
n.714C>T
c.1130C>T
c.4794C>T (p.Pro1598=)
n.5177C>T
c.1983C>T (p.Pro661=)
n.5175C>T
 gnomAD v4 COSMIC COSMIC COSMIC
14g.91278078G>CCA487540331CCDC88Cc.4902C>G (p.Pro1634=)
c.474C>G (p.Pro158=)
n.714C>G
c.1130C>G
c.4794C>G (p.Pro1598=)
n.5177C>G
c.1983C>G (p.Pro661=)
n.5175C>G
 dbSNP gnomAD v2 gnomAD v4
14g.91278078G=CA2154908885CCDC88Cc.4902C= (p.Pro1634=)
c.474C= (p.Pro158=)
n.714C=
c.1130C=
c.4794C= (p.Pro1598=)
n.5177C=
c.1983C= (p.Pro661=)
n.5175C=
14g.91278078G>TCA487540330CCDC88Cc.4902C>A (p.Pro1634=)
c.474C>A (p.Pro158=)
n.714C>A
c.1130C>A
c.4794C>A (p.Pro1598=)
n.5177C>A
c.1983C>A (p.Pro661=)
n.5175C>A
14g.91278079G>ACA390612325CCDC88Cc.4901C>T (p.Pro1634Leu)
c.473C>T (p.Pro158Leu)
n.713C>T
c.1129C>T
c.4793C>T (p.Pro1598Leu)
n.5176C>T
c.1982C>T (p.Pro661Leu)
n.5174C>T
14g.91278079G>CCA390612327CCDC88Cc.4901C>G (p.Pro1634Arg)
c.473C>G (p.Pro158Arg)
n.713C>G
c.1129C>G
c.4793C>G (p.Pro1598Arg)
n.5176C>G
c.1982C>G (p.Pro661Arg)
n.5174C>G
14g.91278079G>TCA390612329CCDC88Cc.4901C>A (p.Pro1634His)
c.473C>A (p.Pro158His)
n.713C>A
c.1129C>A
c.4793C>A (p.Pro1598His)
n.5176C>A
c.1982C>A (p.Pro661His)
n.5174C>A
14g.91278080G>ACA7308800CCDC88Cc.4900C>T (p.Pro1634Ser)
c.472C>T (p.Pro158Ser)
n.712C>T
c.1128C>T
c.4792C>T (p.Pro1598Ser)
n.5175C>T
c.1981C>T (p.Pro661Ser)
n.5173C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278080G>CCA390612332CCDC88Cc.4900C>G (p.Pro1634Ala)
c.472C>G (p.Pro158Ala)
n.712C>G
c.1128C>G
c.4792C>G (p.Pro1598Ala)
n.5175C>G
c.1981C>G (p.Pro661Ala)
n.5173C>G
 dbSNP
14g.91278080G=CA2154908886CCDC88Cc.4900C= (p.Pro1634=)
c.472C= (p.Pro158=)
n.712C=
c.1128C=
c.4792C= (p.Pro1598=)
n.5175C=
c.1981C= (p.Pro661=)
n.5173C=
14g.91278080G>TCA390612334CCDC88Cc.4900C>A (p.Pro1634Thr)
c.472C>A (p.Pro158Thr)
n.712C>A
c.1128C>A
c.4792C>A (p.Pro1598Thr)
n.5175C>A
c.1981C>A (p.Pro661Thr)
n.5173C>A
14g.91278081G>ACA487540332CCDC88Cc.4899C>T (p.Tyr1633=)
c.471C>T (p.Tyr157=)
n.711C>T
c.1127C>T
c.4791C>T (p.Tyr1597=)
n.5174C>T
c.1980C>T (p.Tyr660=)
n.5172C>T
 gnomAD v4
14g.91278081G>CCA390612335CCDC88Cc.4899C>G (p.Tyr1633Ter)
c.471C>G (p.Tyr157Ter)
n.711C>G
c.1127C>G
c.4791C>G (p.Tyr1597Ter)
n.5174C>G
c.1980C>G (p.Tyr660Ter)
n.5172C>G
14g.91278081G>TCA390612337CCDC88Cc.4899C>A (p.Tyr1633Ter)
c.471C>A (p.Tyr157Ter)
n.711C>A
c.1127C>A
c.4791C>A (p.Tyr1597Ter)
n.5174C>A
c.1980C>A (p.Tyr660Ter)
n.5172C>A
14g.91278082T>ACA390612340CCDC88Cc.4898A>T (p.Tyr1633Phe)
c.470A>T (p.Tyr157Phe)
n.710A>T
c.1126A>T
c.4790A>T (p.Tyr1597Phe)
n.5173A>T
c.1979A>T (p.Tyr660Phe)
n.5171A>T
14g.91278082T>CCA390612341CCDC88Cc.4898A>G (p.Tyr1633Cys)
c.470A>G (p.Tyr157Cys)
n.710A>G
c.1126A>G
c.4790A>G (p.Tyr1597Cys)
n.5173A>G
c.1979A>G (p.Tyr660Cys)
n.5171A>G
 dbSNP
14g.91278082T>GCA390612343CCDC88Cc.4898A>C (p.Tyr1633Ser)
c.470A>C (p.Tyr157Ser)
n.710A>C
c.1126A>C
c.4790A>C (p.Tyr1597Ser)
n.5173A>C
c.1979A>C (p.Tyr660Ser)
n.5171A>C
14g.91278083A=CA2154908887CCDC88Cc.4897T= (p.Tyr1633=)
c.469T= (p.Tyr157=)
n.709T=
c.1125T=
c.4789T= (p.Tyr1597=)
n.5172T=
c.1978T= (p.Tyr660=)
n.5170T=
14g.91278083A>CCA390612345CCDC88Cc.4897T>G (p.Tyr1633Asp)
c.469T>G (p.Tyr157Asp)
n.709T>G
c.1125T>G
c.4789T>G (p.Tyr1597Asp)
n.5172T>G
c.1978T>G (p.Tyr660Asp)
n.5170T>G
14g.91278083A>GCA7308801CCDC88Cc.4897T>C (p.Tyr1633His)
c.469T>C (p.Tyr157His)
n.709T>C
c.1125T>C
c.4789T>C (p.Tyr1597His)
n.5172T>C
c.1978T>C (p.Tyr660His)
n.5170T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278083A>TCA390612348CCDC88Cc.4897T>A (p.Tyr1633Asn)
c.469T>A (p.Tyr157Asn)
n.709T>A
c.1125T>A
c.4789T>A (p.Tyr1597Asn)
n.5172T>A
c.1978T>A (p.Tyr660Asn)
n.5170T>A
14g.91278084C>ACA390612352CCDC88Cc.4896G>T (p.Glu1632Asp)
c.468G>T (p.Glu156Asp)
n.708G>T
c.1124G>T
c.4788G>T (p.Glu1596Asp)
n.5171G>T
c.1977G>T (p.Glu659Asp)
n.5169G>T
14g.91278084C>GCA390612350CCDC88Cc.4896G>C (p.Glu1632Asp)
c.468G>C (p.Glu156Asp)
n.708G>C
c.1124G>C
c.4788G>C (p.Glu1596Asp)
n.5171G>C
c.1977G>C (p.Glu659Asp)
n.5169G>C
14g.91278084C>TCA487540336CCDC88Cc.4896G>A (p.Glu1632=)
c.468G>A (p.Glu156=)
n.708G>A
c.1124G>A
c.4788G>A (p.Glu1596=)
n.5171G>A
c.1977G>A (p.Glu659=)
n.5169G>A
14g.91278085T>ACA390612355CCDC88Cc.4895A>T (p.Glu1632Val)
c.467A>T (p.Glu156Val)
n.707A>T
c.1123A>T
c.4787A>T (p.Glu1596Val)
n.5170A>T
c.1976A>T (p.Glu659Val)
n.5168A>T
14g.91278085T>CCA390612358CCDC88Cc.4895A>G (p.Glu1632Gly)
c.467A>G (p.Glu156Gly)
n.707A>G
c.1123A>G
c.4787A>G (p.Glu1596Gly)
n.5170A>G
c.1976A>G (p.Glu659Gly)
n.5168A>G
 COSMIC
14g.91278085T>GCA390612356CCDC88Cc.4895A>C (p.Glu1632Ala)
c.467A>C (p.Glu156Ala)
n.707A>C
c.1123A>C
c.4787A>C (p.Glu1596Ala)
n.5170A>C
c.1976A>C (p.Glu659Ala)
n.5168A>C
14g.91278086C>ACA390612361CCDC88Cc.4894G>T (p.Glu1632Ter)
c.466G>T (p.Glu156Ter)
n.706G>T
c.1122G>T
c.4786G>T (p.Glu1596Ter)
n.5169G>T
c.1975G>T (p.Glu659Ter)
n.5167G>T
14g.91278086C=CA2154908888CCDC88Cc.4894G= (p.Glu1632=)
c.466G= (p.Glu156=)
n.706G=
c.1122G=
c.4786G= (p.Glu1596=)
n.5169G=
c.1975G= (p.Glu659=)
n.5167G=
14g.91278086C>GCA390612363CCDC88Cc.4894G>C (p.Glu1632Gln)
c.466G>C (p.Glu156Gln)
n.706G>C
c.1122G>C
c.4786G>C (p.Glu1596Gln)
n.5169G>C
c.1975G>C (p.Glu659Gln)
n.5167G>C
14g.91278086C>TCA7308802CCDC88Cc.4894G>A (p.Glu1632Lys)
c.466G>A (p.Glu156Lys)
n.706G>A
c.1122G>A
c.4786G>A (p.Glu1596Lys)
n.5169G>A
c.1975G>A (p.Glu659Lys)
n.5167G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278087G>ACA7308803CCDC88Cc.4893C>T (p.His1631=)
c.465C>T (p.His155=)
n.705C>T
c.1121C>T
c.4785C>T (p.His1595=)
n.5168C>T
c.1974C>T (p.His658=)
n.5166C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278087G>CCA390612366CCDC88Cc.4893C>G (p.His1631Gln)
c.465C>G (p.His155Gln)
n.705C>G
c.1121C>G
c.4785C>G (p.His1595Gln)
n.5168C>G
c.1974C>G (p.His658Gln)
n.5166C>G
 dbSNP gnomAD v2 gnomAD v4
14g.91278087G=CA2154908889CCDC88Cc.4893C= (p.His1631=)
c.465C= (p.His155=)
n.705C=
c.1121C=
c.4785C= (p.His1595=)
n.5168C=
c.1974C= (p.His658=)
n.5166C=
14g.91278087G>TCA390612367CCDC88Cc.4893C>A (p.His1631Gln)
c.465C>A (p.His155Gln)
n.705C>A
c.1121C>A
c.4785C>A (p.His1595Gln)
n.5168C>A
c.1974C>A (p.His658Gln)
n.5166C>A
14g.91278088T>ACA390612370CCDC88Cc.4892A>T (p.His1631Leu)
c.464A>T (p.His155Leu)
n.704A>T
c.1120A>T
c.4784A>T (p.His1595Leu)
n.5167A>T
c.1973A>T (p.His658Leu)
n.5165A>T
14g.91278088T>CCA390612372CCDC88Cc.4892A>G (p.His1631Arg)
c.464A>G (p.His155Arg)
n.704A>G
c.1120A>G
c.4784A>G (p.His1595Arg)
n.5167A>G
c.1973A>G (p.His658Arg)
n.5165A>G
14g.91278088T>GCA390612374CCDC88Cc.4892A>C (p.His1631Pro)
c.464A>C (p.His155Pro)
n.704A>C
c.1120A>C
c.4784A>C (p.His1595Pro)
n.5167A>C
c.1973A>C (p.His658Pro)
n.5165A>C
14g.91278089G>ACA390612375CCDC88Cc.4891C>T (p.His1631Tyr)
c.463C>T (p.His155Tyr)
n.703C>T
c.1119C>T
c.4783C>T (p.His1595Tyr)
n.5166C>T
c.1972C>T (p.His658Tyr)
n.5164C>T
14g.91278089G>CCA390612376CCDC88Cc.4891C>G (p.His1631Asp)
c.463C>G (p.His155Asp)
n.703C>G
c.1119C>G
c.4783C>G (p.His1595Asp)
n.5166C>G
c.1972C>G (p.His658Asp)
n.5164C>G
14g.91278089G>TCA390612378CCDC88Cc.4891C>A (p.His1631Asn)
c.463C>A (p.His155Asn)
n.703C>A
c.1119C>A
c.4783C>A (p.His1595Asn)
n.5166C>A
c.1972C>A (p.His658Asn)
n.5164C>A
14g.91278090G>ACA487540338CCDC88Cc.4890C>T (p.Arg1630=)
c.462C>T (p.Arg154=)
n.702C>T
c.1118C>T
c.4782C>T (p.Arg1594=)
n.5165C>T
c.1971C>T (p.Arg657=)
n.5163C>T
 gnomAD v4
14g.91278090G>CCA265523963CCDC88Cc.4890C>G (p.Arg1630=)
c.462C>G (p.Arg154=)
n.702C>G
c.1118C>G
c.4782C>G (p.Arg1594=)
n.5165C>G
c.1971C>G (p.Arg657=)
n.5163C>G
 dbSNP
14g.91278090G=CA2154908890CCDC88Cc.4890C= (p.Arg1630=)
c.462C= (p.Arg154=)
n.702C=
c.1118C=
c.4782C= (p.Arg1594=)
n.5165C=
c.1971C= (p.Arg657=)
n.5163C=
14g.91278090G>TCA487540339CCDC88Cc.4890C>A (p.Arg1630=)
c.462C>A (p.Arg154=)
n.702C>A
c.1118C>A
c.4782C>A (p.Arg1594=)
n.5165C>A
c.1971C>A (p.Arg657=)
n.5163C>A
14g.91278091C>ACA265523969CCDC88Cc.4889G>T (p.Arg1630Leu)
c.461G>T (p.Arg154Leu)
n.701G>T
c.1117G>T
c.4781G>T (p.Arg1594Leu)
n.5164G>T
c.1970G>T (p.Arg657Leu)
n.5162G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278091C=CA2154908891CCDC88Cc.4889G= (p.Arg1630=)
c.461G= (p.Arg154=)
n.701G=
c.1117G=
c.4781G= (p.Arg1594=)
n.5164G=
c.1970G= (p.Arg657=)
n.5162G=
14g.91278091C>GCA390612381CCDC88Cc.4889G>C (p.Arg1630Pro)
c.461G>C (p.Arg154Pro)
n.701G>C
c.1117G>C
c.4781G>C (p.Arg1594Pro)
n.5164G>C
c.1970G>C (p.Arg657Pro)
n.5162G>C
14g.91278091C>TCA7308804CCDC88Cc.4889G>A (p.Arg1630His)
c.461G>A (p.Arg154His)
n.701G>A
c.1117G>A
c.4781G>A (p.Arg1594His)
n.5164G>A
c.1970G>A (p.Arg657His)
n.5162G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278092G>ACA7308805CCDC88Cc.4888C>T (p.Arg1630Cys)
c.460C>T (p.Arg154Cys)
n.700C>T
c.1116C>T
c.4780C>T (p.Arg1594Cys)
n.5163C>T
c.1969C>T (p.Arg657Cys)
n.5161C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278092G>CCA390612384CCDC88Cc.4888C>G (p.Arg1630Gly)
c.460C>G (p.Arg154Gly)
n.700C>G
c.1116C>G
c.4780C>G (p.Arg1594Gly)
n.5163C>G
c.1969C>G (p.Arg657Gly)
n.5161C>G
 dbSNP gnomAD v4
14g.91278092G=CA2154908892CCDC88Cc.4888C= (p.Arg1630=)
c.460C= (p.Arg154=)
n.700C=
c.1116C=
c.4780C= (p.Arg1594=)
n.5163C=
c.1969C= (p.Arg657=)
n.5161C=
14g.91278092G>TCA390612386CCDC88Cc.4888C>A (p.Arg1630Ser)
c.460C>A (p.Arg154Ser)
n.700C>A
c.1116C>A
c.4780C>A (p.Arg1594Ser)
n.5163C>A
c.1969C>A (p.Arg657Ser)
n.5161C>A
14g.91278093G>ACA487540342CCDC88Cc.4887C>T (p.Gly1629=)
c.459C>T (p.Gly153=)
n.699C>T
c.1115C>T
c.4779C>T (p.Gly1593=)
n.5162C>T
c.1968C>T (p.Gly656=)
n.5160C>T
 gnomAD v4
14g.91278093G>CCA487540340CCDC88Cc.4887C>G (p.Gly1629=)
c.459C>G (p.Gly153=)
n.699C>G
c.1115C>G
c.4779C>G (p.Gly1593=)
n.5162C>G
c.1968C>G (p.Gly656=)
n.5160C>G
14g.91278093G>TCA487540341CCDC88Cc.4887C>A (p.Gly1629=)
c.459C>A (p.Gly153=)
n.699C>A
c.1115C>A
c.4779C>A (p.Gly1593=)
n.5162C>A
c.1968C>A (p.Gly656=)
n.5160C>A
14g.91278094C>ACA390612389CCDC88Cc.4886G>T (p.Gly1629Val)
c.458G>T (p.Gly153Val)
n.698G>T
c.1114G>T
c.4778G>T (p.Gly1593Val)
n.5161G>T
c.1967G>T (p.Gly656Val)
n.5159G>T
14g.91278094C=CA2154908893CCDC88Cc.4886G= (p.Gly1629=)
c.458G= (p.Gly153=)
n.698G=
c.1114G=
c.4778G= (p.Gly1593=)
n.5161G=
c.1967G= (p.Gly656=)
n.5159G=
14g.91278094C>GCA390612390CCDC88Cc.4886G>C (p.Gly1629Ala)
c.458G>C (p.Gly153Ala)
n.698G>C
c.1114G>C
c.4778G>C (p.Gly1593Ala)
n.5161G>C
c.1967G>C (p.Gly656Ala)
n.5159G>C
14g.91278094C>TCA390612392CCDC88Cc.4886G>A (p.Gly1629Asp)
c.458G>A (p.Gly153Asp)
n.698G>A
c.1114G>A
c.4778G>A (p.Gly1593Asp)
n.5161G>A
c.1967G>A (p.Gly656Asp)
n.5159G>A
 dbSNP gnomAD v4
14g.91278095C>ACA390612393CCDC88Cc.4885G>T (p.Gly1629Cys)
c.457G>T (p.Gly153Cys)
n.697G>T
c.1113G>T
c.4777G>T (p.Gly1593Cys)
n.5160G>T
c.1966G>T (p.Gly656Cys)
n.5158G>T
14g.91278095C=CA2154908894CCDC88Cc.4885G= (p.Gly1629=)
c.457G= (p.Gly153=)
n.697G=
c.1113G=
c.4777G= (p.Gly1593=)
n.5160G=
c.1966G= (p.Gly656=)
n.5158G=
14g.91278095C>GCA390612395CCDC88Cc.4885G>C (p.Gly1629Arg)
c.457G>C (p.Gly153Arg)
n.697G>C
c.1113G>C
c.4777G>C (p.Gly1593Arg)
n.5160G>C
c.1966G>C (p.Gly656Arg)
n.5158G>C
14g.91278095C>TCA390612397CCDC88Cc.4885G>A (p.Gly1629Ser)
c.457G>A (p.Gly153Ser)
n.697G>A
c.1113G>A
c.4777G>A (p.Gly1593Ser)
n.5160G>A
c.1966G>A (p.Gly656Ser)
n.5158G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278096G>ACA7308806CCDC88Cc.4884C>T (p.Leu1628=)
c.456C>T (p.Leu152=)
n.696C>T
c.1112C>T
c.4776C>T (p.Leu1592=)
n.5159C>T
c.1965C>T (p.Leu655=)
n.5157C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.91278096G>CCA487540344CCDC88Cc.4884C>G (p.Leu1628=)
c.456C>G (p.Leu152=)
n.696C>G
c.1112C>G
c.4776C>G (p.Leu1592=)
n.5159C>G
c.1965C>G (p.Leu655=)
n.5157C>G
14g.91278096G=CA2154908895CCDC88Cc.4884C= (p.Leu1628=)
c.456C= (p.Leu152=)
n.696C=
c.1112C=
c.4776C= (p.Leu1592=)
n.5159C=
c.1965C= (p.Leu655=)
n.5157C=
14g.91278096G>TCA487540345CCDC88Cc.4884C>A (p.Leu1628=)
c.456C>A (p.Leu152=)
n.696C>A
c.1112C>A
c.4776C>A (p.Leu1592=)
n.5159C>A
c.1965C>A (p.Leu655=)
n.5157C>A
14g.91278097A>CCA390612400CCDC88Cc.4883T>G (p.Leu1628Arg)
c.455T>G (p.Leu152Arg)
n.695T>G
c.1111T>G
c.4775T>G (p.Leu1592Arg)
n.5158T>G
c.1964T>G (p.Leu655Arg)
n.5156T>G
14g.91278097A>GCA390612402CCDC88Cc.4883T>C (p.Leu1628Pro)
c.455T>C (p.Leu152Pro)
n.695T>C
c.1111T>C
c.4775T>C (p.Leu1592Pro)
n.5158T>C
c.1964T>C (p.Leu655Pro)
n.5156T>C
14g.91278097A>TCA390612404CCDC88Cc.4883T>A (p.Leu1628His)
c.455T>A (p.Leu152His)
n.695T>A
c.1111T>A
c.4775T>A (p.Leu1592His)
n.5158T>A
c.1964T>A (p.Leu655His)
n.5156T>A
14g.91278098G>ACA390612410CCDC88Cc.4882C>T (p.Leu1628Phe)
c.454C>T (p.Leu152Phe)
n.694C>T
c.1110C>T
c.4774C>T (p.Leu1592Phe)
n.5157C>T
c.1963C>T (p.Leu655Phe)
n.5155C>T
14g.91278098G>CCA390612408CCDC88Cc.4882C>G (p.Leu1628Val)
c.454C>G (p.Leu152Val)
n.694C>G
c.1110C>G
c.4774C>G (p.Leu1592Val)
n.5157C>G
c.1963C>G (p.Leu655Val)
n.5155C>G
14g.91278098G>TCA390612407CCDC88Cc.4882C>A (p.Leu1628Ile)
c.454C>A (p.Leu152Ile)
n.694C>A
c.1110C>A
c.4774C>A (p.Leu1592Ile)
n.5157C>A
c.1963C>A (p.Leu655Ile)
n.5155C>A
14g.91278100dupCA2626124458CCDC88Cc.4882dup (p.Leu1628ProfsTer?)
c.454dup (p.Leu152ProfsTer?)
n.694dup
c.1110dup
c.4774dup (p.Leu1592ProfsTer?)
n.5157dup
c.1963dup (p.Leu655ProfsTer?)
n.5155dup
 gnomAD v4
14g.91278099G>ACA487540348CCDC88Cc.4881C>T (p.Ala1627=)
c.453C>T (p.Ala151=)
n.693C>T
c.1109C>T
c.4773C>T (p.Ala1591=)
n.5156C>T
c.1962C>T (p.Ala654=)
n.5154C>T
 gnomAD v4
14g.91278099G>CCA487540346CCDC88Cc.4881C>G (p.Ala1627=)
c.453C>G (p.Ala151=)
n.693C>G
c.1109C>G
c.4773C>G (p.Ala1591=)
n.5156C>G
c.1962C>G (p.Ala654=)
n.5154C>G
 gnomAD v4
14g.91278099G>TCA487540347CCDC88Cc.4881C>A (p.Ala1627=)
c.453C>A (p.Ala151=)
n.693C>A
c.1109C>A
c.4773C>A (p.Ala1591=)
n.5156C>A
c.1962C>A (p.Ala654=)
n.5154C>A
14g.91278100G>ACA390612413CCDC88Cc.4880C>T (p.Ala1627Val)
c.452C>T (p.Ala151Val)
n.692C>T
c.1108C>T
c.4772C>T (p.Ala1591Val)
n.5155C>T
c.1961C>T (p.Ala654Val)
n.5153C>T
 gnomAD v4
14g.91278100G>CCA390612414CCDC88Cc.4880C>G (p.Ala1627Gly)
c.452C>G (p.Ala151Gly)
n.692C>G
c.1108C>G
c.4772C>G (p.Ala1591Gly)
n.5155C>G
c.1961C>G (p.Ala654Gly)
n.5153C>G
14g.91278100G>TCA390612415CCDC88Cc.4880C>A (p.Ala1627Asp)
c.452C>A (p.Ala151Asp)
n.692C>A
c.1108C>A
c.4772C>A (p.Ala1591Asp)
n.5155C>A
c.1961C>A (p.Ala654Asp)
n.5153C>A
14g.91278101C>ACA390612417CCDC88Cc.4879G>T (p.Ala1627Ser)
c.451G>T (p.Ala151Ser)
n.691G>T
c.1107G>T
c.4771G>T (p.Ala1591Ser)
n.5154G>T
c.1960G>T (p.Ala654Ser)
n.5152G>T
14g.91278101C=CA2154908896CCDC88Cc.4879G= (p.Ala1627=)
c.451G= (p.Ala151=)
n.691G=
c.1107G=
c.4771G= (p.Ala1591=)
n.5154G=
c.1960G= (p.Ala654=)
n.5152G=
14g.91278101C>GCA390612419CCDC88Cc.4879G>C (p.Ala1627Pro)
c.451G>C (p.Ala151Pro)
n.691G>C
c.1107G>C
c.4771G>C (p.Ala1591Pro)
n.5154G>C
c.1960G>C (p.Ala654Pro)
n.5152G>C
 dbSNP gnomAD v2
14g.91278101C>TCA390612421CCDC88Cc.4879G>A (p.Ala1627Thr)
c.451G>A (p.Ala151Thr)
n.691G>A
c.1107G>A
c.4771G>A (p.Ala1591Thr)
n.5154G>A
c.1960G>A (p.Ala654Thr)
n.5152G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched