Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91272680delCA2626127171CCDC88Cc.6035del (p.Pro2012ArgfsTer?)
c.1469del (p.Pro490ArgfsTer?)
c.2263del
c.5927del (p.Pro1976ArgfsTer?)
c.3116del (p.Pro1039ArgfsTer?)
 gnomAD v4
14g.91272679G>ACA487828489CCDC88Cc.6033C>T (p.Ser2011=)
c.1467C>T (p.Ser489=)
c.2261C>T
c.5925C>T (p.Ser1975=)
c.3114C>T (p.Ser1038=)
 gnomAD v4
14g.91272679G>CCA487828490CCDC88Cc.6033C>G (p.Ser2011=)
c.1467C>G (p.Ser489=)
c.2261C>G
c.5925C>G (p.Ser1975=)
c.3114C>G (p.Ser1038=)
 dbSNP
14g.91272679G=CA2154900040CCDC88Cc.6033C= (p.Ser2011=)
c.1467C= (p.Ser489=)
c.2261C=
c.5925C= (p.Ser1975=)
c.3114C= (p.Ser1038=)
14g.91272679G>TCA487828491CCDC88Cc.6033C>A (p.Ser2011=)
c.1467C>A (p.Ser489=)
c.2261C>A
c.5925C>A (p.Ser1975=)
c.3114C>A (p.Ser1038=)
14g.91272680G>ACA390608018CCDC88Cc.6032C>T (p.Ser2011Phe)
c.1466C>T (p.Ser489Phe)
c.2260C>T
c.5924C>T (p.Ser1975Phe)
c.3113C>T (p.Ser1038Phe)
 gnomAD v4
14g.91272680G>CCA7308524CCDC88Cc.6032C>G (p.Ser2011Cys)
c.1466C>G (p.Ser489Cys)
c.2260C>G
c.5924C>G (p.Ser1975Cys)
c.3113C>G (p.Ser1038Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272680G=CA2154900057CCDC88Cc.6032C= (p.Ser2011=)
c.1466C= (p.Ser489=)
c.2260C=
c.5924C= (p.Ser1975=)
c.3113C= (p.Ser1038=)
14g.91272680G>TCA390608019CCDC88Cc.6032C>A (p.Ser2011Tyr)
c.1466C>A (p.Ser489Tyr)
c.2260C>A
c.5924C>A (p.Ser1975Tyr)
c.3113C>A (p.Ser1038Tyr)
 gnomAD v4
14g.91272681A>CCA390608020CCDC88Cc.6031T>G (p.Ser2011Ala)
c.1465T>G (p.Ser489Ala)
c.2259T>G
c.5923T>G (p.Ser1975Ala)
c.3112T>G (p.Ser1038Ala)
14g.91272681A>GCA390608021CCDC88Cc.6031T>C (p.Ser2011Pro)
c.1465T>C (p.Ser489Pro)
c.2259T>C
c.5923T>C (p.Ser1975Pro)
c.3112T>C (p.Ser1038Pro)
14g.91272681A>TCA390608022CCDC88Cc.6031T>A (p.Ser2011Thr)
c.1465T>A (p.Ser489Thr)
c.2259T>A
c.5923T>A (p.Ser1975Thr)
c.3112T>A (p.Ser1038Thr)
14g.91272682G>ACA487828493CCDC88Cc.6030C>T (p.Ala2010=)
c.1464C>T (p.Ala488=)
c.2258C>T
c.5922C>T (p.Ala1974=)
c.3111C>T (p.Ala1037=)
 gnomAD v4
14g.91272682G>CCA487828495CCDC88Cc.6030C>G (p.Ala2010=)
c.1464C>G (p.Ala488=)
c.2258C>G
c.5922C>G (p.Ala1974=)
c.3111C>G (p.Ala1037=)
14g.91272682G>TCA487828496CCDC88Cc.6030C>A (p.Ala2010=)
c.1464C>A (p.Ala488=)
c.2258C>A
c.5922C>A (p.Ala1974=)
c.3111C>A (p.Ala1037=)
 gnomAD v4
14g.91272683G>ACA390608023CCDC88Cc.6029C>T (p.Ala2010Val)
c.1463C>T (p.Ala488Val)
c.2257C>T
c.5921C>T (p.Ala1974Val)
c.3110C>T (p.Ala1037Val)
14g.91272683G>CCA390608024CCDC88Cc.6029C>G (p.Ala2010Gly)
c.1463C>G (p.Ala488Gly)
c.2257C>G
c.5921C>G (p.Ala1974Gly)
c.3110C>G (p.Ala1037Gly)
14g.91272683G>TCA390608025CCDC88Cc.6029C>A (p.Ala2010Asp)
c.1463C>A (p.Ala488Asp)
c.2257C>A
c.5921C>A (p.Ala1974Asp)
c.3110C>A (p.Ala1037Asp)
 gnomAD v4
14g.91272684C>ACA390608027CCDC88Cc.6028G>T (p.Ala2010Ser)
c.1462G>T (p.Ala488Ser)
c.2256G>T
c.5920G>T (p.Ala1974Ser)
c.3109G>T (p.Ala1037Ser)
 dbSNP
14g.91272684C=CA2154900062CCDC88Cc.6028G= (p.Ala2010=)
c.1462G= (p.Ala488=)
c.2256G=
c.5920G= (p.Ala1974=)
c.3109G= (p.Ala1037=)
14g.91272684C>GCA390608028CCDC88Cc.6028G>C (p.Ala2010Pro)
c.1462G>C (p.Ala488Pro)
c.2256G>C
c.5920G>C (p.Ala1974Pro)
c.3109G>C (p.Ala1037Pro)
14g.91272684C>TCA390608026CCDC88Cc.6028G>A (p.Ala2010Thr)
c.1462G>A (p.Ala488Thr)
c.2256G>A
c.5920G>A (p.Ala1974Thr)
c.3109G>A (p.Ala1037Thr)
 gnomAD v4
14g.91272685C>ACA487828498CCDC88Cc.6027G>T (p.Pro2009=)
c.1461G>T (p.Pro487=)
c.2255G>T
c.5919G>T (p.Pro1973=)
c.3108G>T (p.Pro1036=)
14g.91272685C=CA2154900082CCDC88Cc.6027G= (p.Pro2009=)
c.1461G= (p.Pro487=)
c.2255G=
c.5919G= (p.Pro1973=)
c.3108G= (p.Pro1036=)
14g.91272685C>GCA487828499CCDC88Cc.6027G>C (p.Pro2009=)
c.1461G>C (p.Pro487=)
c.2255G>C
c.5919G>C (p.Pro1973=)
c.3108G>C (p.Pro1036=)
14g.91272685C>TCA7308525CCDC88Cc.6027G>A (p.Pro2009=)
c.1461G>A (p.Pro487=)
c.2255G>A
c.5919G>A (p.Pro1973=)
c.3108G>A (p.Pro1036=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272686G>ACA7308526CCDC88Cc.6026C>T (p.Pro2009Leu)
c.1460C>T (p.Pro487Leu)
c.2254C>T
c.5918C>T (p.Pro1973Leu)
c.3107C>T (p.Pro1036Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272686G>CCA390608029CCDC88Cc.6026C>G (p.Pro2009Arg)
c.1460C>G (p.Pro487Arg)
c.2254C>G
c.5918C>G (p.Pro1973Arg)
c.3107C>G (p.Pro1036Arg)
 gnomAD v4
14g.91272686G=CA2154900094CCDC88Cc.6026C= (p.Pro2009=)
c.1460C= (p.Pro487=)
c.2254C=
c.5918C= (p.Pro1973=)
c.3107C= (p.Pro1036=)
14g.91272686G>TCA390608030CCDC88Cc.6026C>A (p.Pro2009Gln)
c.1460C>A (p.Pro487Gln)
c.2254C>A
c.5918C>A (p.Pro1973Gln)
c.3107C>A (p.Pro1036Gln)
 gnomAD v4
14g.91272687G>ACA390608033CCDC88Cc.6025C>T (p.Pro2009Ser)
c.1459C>T (p.Pro487Ser)
c.2253C>T
c.5917C>T (p.Pro1973Ser)
c.3106C>T (p.Pro1036Ser)
 gnomAD v4
14g.91272687G>CCA390608032CCDC88Cc.6025C>G (p.Pro2009Ala)
c.1459C>G (p.Pro487Ala)
c.2253C>G
c.5917C>G (p.Pro1973Ala)
c.3106C>G (p.Pro1036Ala)
14g.91272687G>TCA390608031CCDC88Cc.6025C>A (p.Pro2009Thr)
c.1459C>A (p.Pro487Thr)
c.2253C>A
c.5917C>A (p.Pro1973Thr)
c.3106C>A (p.Pro1036Thr)
14g.91272688A=CA2154900105CCDC88Cc.6024T= (p.Ser2008=)
c.1458T= (p.Ser486=)
c.2252T=
c.5916T= (p.Ser1972=)
c.3105T= (p.Ser1035=)
14g.91272688A>CCA390608034CCDC88Cc.6024T>G (p.Ser2008Arg)
c.1458T>G (p.Ser486Arg)
c.2252T>G
c.5916T>G (p.Ser1972Arg)
c.3105T>G (p.Ser1035Arg)
14g.91272688A>GCA7308527CCDC88Cc.6024T>C (p.Ser2008=)
c.1458T>C (p.Ser486=)
c.2252T>C
c.5916T>C (p.Ser1972=)
c.3105T>C (p.Ser1035=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272688A>TCA390608035CCDC88Cc.6024T>A (p.Ser2008Arg)
c.1458T>A (p.Ser486Arg)
c.2252T>A
c.5916T>A (p.Ser1972Arg)
c.3105T>A (p.Ser1035Arg)
14g.91272689C>ACA390608036CCDC88Cc.6023G>T (p.Ser2008Ile)
c.1457G>T (p.Ser486Ile)
c.2251G>T
c.5915G>T (p.Ser1972Ile)
c.3104G>T (p.Ser1035Ile)
14g.91272689C>GCA390608037CCDC88Cc.6023G>C (p.Ser2008Thr)
c.1457G>C (p.Ser486Thr)
c.2251G>C
c.5915G>C (p.Ser1972Thr)
c.3104G>C (p.Ser1035Thr)
14g.91272689C>TCA390608038CCDC88Cc.6023G>A (p.Ser2008Asn)
c.1457G>A (p.Ser486Asn)
c.2251G>A
c.5915G>A (p.Ser1972Asn)
c.3104G>A (p.Ser1035Asn)
14g.91272690T>ACA390608040CCDC88Cc.6022A>T (p.Ser2008Cys)
c.1456A>T (p.Ser486Cys)
c.2250A>T
c.5914A>T (p.Ser1972Cys)
c.3103A>T (p.Ser1035Cys)
14g.91272690T>CCA7308528CCDC88Cc.6022A>G (p.Ser2008Gly)
c.1456A>G (p.Ser486Gly)
c.2250A>G
c.5914A>G (p.Ser1972Gly)
c.3103A>G (p.Ser1035Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272690T>GCA390608039CCDC88Cc.6022A>C (p.Ser2008Arg)
c.1456A>C (p.Ser486Arg)
c.2250A>C
c.5914A>C (p.Ser1972Arg)
c.3103A>C (p.Ser1035Arg)
14g.91272690T=CA2154900109CCDC88Cc.6022A= (p.Ser2008=)
c.1456A= (p.Ser486=)
c.2250A=
c.5914A= (p.Ser1972=)
c.3103A= (p.Ser1035=)
14g.91272691delCA2730191427CCDC88Cc.6021del (p.Ser2007ArgfsTer?)
c.1455del (p.Ser485ArgfsTer?)
c.2249del
c.5913del (p.Ser1971ArgfsTer?)
c.3102del (p.Ser1034ArgfsTer?)
 dbSNP
14g.91272691G>ACA265517062CCDC88Cc.6021C>T (p.Ser2007=)
c.1455C>T (p.Ser485=)
c.2249C>T
c.5913C>T (p.Ser1971=)
c.3102C>T (p.Ser1034=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272691G>CCA390608041CCDC88Cc.6021C>G (p.Ser2007Arg)
c.1455C>G (p.Ser485Arg)
c.2249C>G
c.5913C>G (p.Ser1971Arg)
c.3102C>G (p.Ser1034Arg)
14g.91272691G=CA2154900112CCDC88Cc.6021C= (p.Ser2007=)
c.1455C= (p.Ser485=)
c.2249C=
c.5913C= (p.Ser1971=)
c.3102C= (p.Ser1034=)
14g.91272691G>TCA390608042CCDC88Cc.6021C>A (p.Ser2007Arg)
c.1455C>A (p.Ser485Arg)
c.2249C>A
c.5913C>A (p.Ser1971Arg)
c.3102C>A (p.Ser1034Arg)
14g.91272692C>ACA390608043CCDC88Cc.6020G>T (p.Ser2007Ile)
c.1454G>T (p.Ser485Ile)
c.2248G>T
c.5912G>T (p.Ser1971Ile)
c.3101G>T (p.Ser1034Ile)
14g.91272692C>GCA390608044CCDC88Cc.6020G>C (p.Ser2007Thr)
c.1454G>C (p.Ser485Thr)
c.2248G>C
c.5912G>C (p.Ser1971Thr)
c.3101G>C (p.Ser1034Thr)
14g.91272692C>TCA390608045CCDC88Cc.6020G>A (p.Ser2007Asn)
c.1454G>A (p.Ser485Asn)
c.2248G>A
c.5912G>A (p.Ser1971Asn)
c.3101G>A (p.Ser1034Asn)
14g.91272693T>ACA390608046CCDC88Cc.6019A>T (p.Ser2007Cys)
c.1453A>T (p.Ser485Cys)
c.2247A>T
c.5911A>T (p.Ser1971Cys)
c.3100A>T (p.Ser1034Cys)
14g.91272693T>CCA390608047CCDC88Cc.6019A>G (p.Ser2007Gly)
c.1453A>G (p.Ser485Gly)
c.2247A>G
c.5911A>G (p.Ser1971Gly)
c.3100A>G (p.Ser1034Gly)
14g.91272693T>GCA390608048CCDC88Cc.6019A>C (p.Ser2007Arg)
c.1453A>C (p.Ser485Arg)
c.2247A>C
c.5911A>C (p.Ser1971Arg)
c.3100A>C (p.Ser1034Arg)
14g.91272694C>ACA390608049CCDC88Cc.6018G>T (p.Lys2006Asn)
c.1452G>T (p.Lys484Asn)
c.2246G>T
c.5910G>T (p.Lys1970Asn)
c.3099G>T (p.Lys1033Asn)
14g.91272694C=CA2154900121CCDC88Cc.6018G= (p.Lys2006=)
c.1452G= (p.Lys484=)
c.2246G=
c.5910G= (p.Lys1970=)
c.3099G= (p.Lys1033=)
14g.91272694C>GCA390608050CCDC88Cc.6018G>C (p.Lys2006Asn)
c.1452G>C (p.Lys484Asn)
c.2246G>C
c.5910G>C (p.Lys1970Asn)
c.3099G>C (p.Lys1033Asn)
14g.91272694C>TCA487828502CCDC88Cc.6018G>A (p.Lys2006=)
c.1452G>A (p.Lys484=)
c.2246G>A
c.5910G>A (p.Lys1970=)
c.3099G>A (p.Lys1033=)
 ClinVar dbSNP
14g.91272694_91272696delinsCTTCA2154900118CCDC88Cc.6016_6018delinsAAG (p.Lys2006=)
c.1450_1452delinsAAG (p.Lys484=)
c.2244_2246delinsAAG
c.5908_5910delinsAAG (p.Lys1970=)
c.3097_3099delinsAAG (p.Lys1033=)
14g.91272695T>ACA390608051CCDC88Cc.6017A>T (p.Lys2006Met)
c.1451A>T (p.Lys484Met)
c.2245A>T
c.5909A>T (p.Lys1970Met)
c.3098A>T (p.Lys1033Met)
14g.91272695T>CCA390608052CCDC88Cc.6017A>G (p.Lys2006Arg)
c.1451A>G (p.Lys484Arg)
c.2245A>G
c.5909A>G (p.Lys1970Arg)
c.3098A>G (p.Lys1033Arg)
14g.91272695T>GCA390608053CCDC88Cc.6017A>C (p.Lys2006Thr)
c.1451A>C (p.Lys484Thr)
c.2245A>C
c.5909A>C (p.Lys1970Thr)
c.3098A>C (p.Lys1033Thr)
14g.91272696_91272697delCA2154900124CCDC88Cc.6016_6017del (p.Lys2006GlufsTer18)
c.1450_1451del (p.Lys484GlufsTer18)
c.2244_2245del
c.5908_5909del (p.Lys1970GlufsTer18)
c.3097_3098del (p.Lys1033GlufsTer18)
 ClinVar dbSNP gnomAD v4
14g.91272696T>ACA390608056CCDC88Cc.6016A>T (p.Lys2006Ter)
c.1450A>T (p.Lys484Ter)
c.2244A>T
c.5908A>T (p.Lys1970Ter)
c.3097A>T (p.Lys1033Ter)
14g.91272696T>CCA390608055CCDC88Cc.6016A>G (p.Lys2006Glu)
c.1450A>G (p.Lys484Glu)
c.2244A>G
c.5908A>G (p.Lys1970Glu)
c.3097A>G (p.Lys1033Glu)
 gnomAD v4
14g.91272696T>GCA390608054CCDC88Cc.6016A>C (p.Lys2006Gln)
c.1450A>C (p.Lys484Gln)
c.2244A>C
c.5908A>C (p.Lys1970Gln)
c.3097A>C (p.Lys1033Gln)
14g.91272697T>ACA487828504CCDC88Cc.6015A>T (p.Ser2005=)
c.1449A>T (p.Ser483=)
c.2243A>T
c.5907A>T (p.Ser1969=)
c.3096A>T (p.Ser1032=)
14g.91272697T>CCA487828505CCDC88Cc.6015A>G (p.Ser2005=)
c.1449A>G (p.Ser483=)
c.2243A>G
c.5907A>G (p.Ser1969=)
c.3096A>G (p.Ser1032=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272697T>GCA487828506CCDC88Cc.6015A>C (p.Ser2005=)
c.1449A>C (p.Ser483=)
c.2243A>C
c.5907A>C (p.Ser1969=)
c.3096A>C (p.Ser1032=)
14g.91272697T=CA2154900127CCDC88Cc.6015A= (p.Ser2005=)
c.1449A= (p.Ser483=)
c.2243A=
c.5907A= (p.Ser1969=)
c.3096A= (p.Ser1032=)
14g.91272698G>ACA390608057CCDC88Cc.6014C>T (p.Ser2005Leu)
c.1448C>T (p.Ser483Leu)
c.2242C>T
c.5906C>T (p.Ser1969Leu)
c.3095C>T (p.Ser1032Leu)
14g.91272698G>CCA390608058CCDC88Cc.6014C>G (p.Ser2005Ter)
c.1448C>G (p.Ser483Ter)
c.2242C>G
c.5906C>G (p.Ser1969Ter)
c.3095C>G (p.Ser1032Ter)
 dbSNP gnomAD v4
14g.91272698G>TCA390608059CCDC88Cc.6014C>A (p.Ser2005Ter)
c.1448C>A (p.Ser483Ter)
c.2242C>A
c.5906C>A (p.Ser1969Ter)
c.3095C>A (p.Ser1032Ter)
 gnomAD v4
14g.91272699A>CCA390608060CCDC88Cc.6013T>G (p.Ser2005Ala)
c.1447T>G (p.Ser483Ala)
c.2241T>G
c.5905T>G (p.Ser1969Ala)
c.3094T>G (p.Ser1032Ala)
14g.91272699A>GCA390608061CCDC88Cc.6013T>C (p.Ser2005Pro)
c.1447T>C (p.Ser483Pro)
c.2241T>C
c.5905T>C (p.Ser1969Pro)
c.3094T>C (p.Ser1032Pro)
14g.91272699A>TCA390608062CCDC88Cc.6013T>A (p.Ser2005Thr)
c.1447T>A (p.Ser483Thr)
c.2241T>A
c.5905T>A (p.Ser1969Thr)
c.3094T>A (p.Ser1032Thr)
14g.91272700G>ACA487828511CCDC88Cc.6012C>T (p.Val2004=)
c.1446C>T (p.Val482=)
c.2240C>T
c.5904C>T (p.Val1968=)
c.3093C>T (p.Val1031=)
14g.91272700G>CCA487828510CCDC88Cc.6012C>G (p.Val2004=)
c.1446C>G (p.Val482=)
c.2240C>G
c.5904C>G (p.Val1968=)
c.3093C>G (p.Val1031=)
14g.91272700G=CA2154900134CCDC88Cc.6012C= (p.Val2004=)
c.1446C= (p.Val482=)
c.2240C=
c.5904C= (p.Val1968=)
c.3093C= (p.Val1031=)
14g.91272700G>TCA7308529CCDC88Cc.6012C>A (p.Val2004=)
c.1446C>A (p.Val482=)
c.2240C>A
c.5904C>A (p.Val1968=)
c.3093C>A (p.Val1031=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272701delCA2730191728CCDC88Cc.6011del (p.Val2004AlafsTer?)
c.1445del (p.Val482AlafsTer?)
c.2239del
c.5903del (p.Val1968AlafsTer?)
c.3092del (p.Val1031AlafsTer?)
 dbSNP
14g.91272701A=CA2154900144CCDC88Cc.6011T= (p.Val2004=)
c.1445T= (p.Val482=)
c.2239T=
c.5903T= (p.Val1968=)
c.3092T= (p.Val1031=)
14g.91272701A>CCA390608063CCDC88Cc.6011T>G (p.Val2004Gly)
c.1445T>G (p.Val482Gly)
c.2239T>G
c.5903T>G (p.Val1968Gly)
c.3092T>G (p.Val1031Gly)
14g.91272701A>GCA7308530CCDC88Cc.6011T>C (p.Val2004Ala)
c.1445T>C (p.Val482Ala)
c.2239T>C
c.5903T>C (p.Val1968Ala)
c.3092T>C (p.Val1031Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
14g.91272701A>TCA390608064CCDC88Cc.6011T>A (p.Val2004Asp)
c.1445T>A (p.Val482Asp)
c.2239T>A
c.5903T>A (p.Val1968Asp)
c.3092T>A (p.Val1031Asp)
14g.91272702C>ACA7308533CCDC88Cc.6010G>T (p.Val2004Phe)
c.1444G>T (p.Val482Phe)
c.2238G>T
c.5902G>T (p.Val1968Phe)
c.3091G>T (p.Val1031Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272702C=CA2154900150CCDC88Cc.6010G= (p.Val2004=)
c.1444G= (p.Val482=)
c.2238G=
c.5902G= (p.Val1968=)
c.3091G= (p.Val1031=)
14g.91272702C>GCA7308531CCDC88Cc.6010G>C (p.Val2004Leu)
c.1444G>C (p.Val482Leu)
c.2238G>C
c.5902G>C (p.Val1968Leu)
c.3091G>C (p.Val1031Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272702C>TCA7308532CCDC88Cc.6010G>A (p.Val2004Ile)
c.1444G>A (p.Val482Ile)
c.2238G>A
c.5902G>A (p.Val1968Ile)
c.3091G>A (p.Val1031Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272703G>ACA7308534CCDC88Cc.6009C>T (p.Ser2003=)
c.1443C>T (p.Ser481=)
c.2237C>T
c.5901C>T (p.Ser1967=)
c.3090C>T (p.Ser1030=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272703G>CCA390608066CCDC88Cc.6009C>G (p.Ser2003Arg)
c.1443C>G (p.Ser481Arg)
c.2237C>G
c.5901C>G (p.Ser1967Arg)
c.3090C>G (p.Ser1030Arg)
14g.91272703G=CA2154900154CCDC88Cc.6009C= (p.Ser2003=)
c.1443C= (p.Ser481=)
c.2237C=
c.5901C= (p.Ser1967=)
c.3090C= (p.Ser1030=)
14g.91272703G>TCA390608065CCDC88Cc.6009C>A (p.Ser2003Arg)
c.1443C>A (p.Ser481Arg)
c.2237C>A
c.5901C>A (p.Ser1967Arg)
c.3090C>A (p.Ser1030Arg)
 gnomAD v4
14g.91272704C>ACA390608068CCDC88Cc.6008G>T (p.Ser2003Ile)
c.1442G>T (p.Ser481Ile)
c.2236G>T
c.5900G>T (p.Ser1967Ile)
c.3089G>T (p.Ser1030Ile)
14g.91272704C=CA2154900159CCDC88Cc.6008G= (p.Ser2003=)
c.1442G= (p.Ser481=)
c.2236G=
c.5900G= (p.Ser1967=)
c.3089G= (p.Ser1030=)
14g.91272704C>GCA390608067CCDC88Cc.6008G>C (p.Ser2003Thr)
c.1442G>C (p.Ser481Thr)
c.2236G>C
c.5900G>C (p.Ser1967Thr)
c.3089G>C (p.Ser1030Thr)
14g.91272704C>TCA7308535CCDC88Cc.6008G>A (p.Ser2003Asn)
c.1442G>A (p.Ser481Asn)
c.2236G>A
c.5900G>A (p.Ser1967Asn)
c.3089G>A (p.Ser1030Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272705T>ACA390608069CCDC88Cc.6007A>T (p.Ser2003Cys)
c.1441A>T (p.Ser481Cys)
c.2235A>T
c.5899A>T (p.Ser1967Cys)
c.3088A>T (p.Ser1030Cys)
14g.91272705T>CCA390608070CCDC88Cc.6007A>G (p.Ser2003Gly)
c.1441A>G (p.Ser481Gly)
c.2235A>G
c.5899A>G (p.Ser1967Gly)
c.3088A>G (p.Ser1030Gly)
14g.91272705T>GCA390608071CCDC88Cc.6007A>C (p.Ser2003Arg)
c.1441A>C (p.Ser481Arg)
c.2235A>C
c.5899A>C (p.Ser1967Arg)
c.3088A>C (p.Ser1030Arg)
14g.91272706C>ACA487828514CCDC88Cc.6006G>T (p.Gly2002=)
c.1440G>T (p.Gly480=)
c.2234G>T
c.5898G>T (p.Gly1966=)
c.3087G>T (p.Gly1029=)
14g.91272706C>GCA487828516CCDC88Cc.6006G>C (p.Gly2002=)
c.1440G>C (p.Gly480=)
c.2234G>C
c.5898G>C (p.Gly1966=)
c.3087G>C (p.Gly1029=)
14g.91272706C>TCA487828515CCDC88Cc.6006G>A (p.Gly2002=)
c.1440G>A (p.Gly480=)
c.2234G>A
c.5898G>A (p.Gly1966=)
c.3087G>A (p.Gly1029=)
 gnomAD v4
14g.91272708delCA2626127220CCDC88Cc.6006del (p.Ser2003AlafsTer?)
c.1440del (p.Ser481AlafsTer?)
c.2234del
c.5898del (p.Ser1967AlafsTer?)
c.3087del (p.Ser1030AlafsTer?)
 gnomAD v4
14g.91272707C>ACA390608072CCDC88Cc.6005G>T (p.Gly2002Val)
c.1439G>T (p.Gly480Val)
c.2233G>T
c.5897G>T (p.Gly1966Val)
c.3086G>T (p.Gly1029Val)
 dbSNP gnomAD v2 gnomAD v4
14g.91272707C=CA2154900166CCDC88Cc.6005G= (p.Gly2002=)
c.1439G= (p.Gly480=)
c.2233G=
c.5897G= (p.Gly1966=)
c.3086G= (p.Gly1029=)
14g.91272707C>GCA390608073CCDC88Cc.6005G>C (p.Gly2002Ala)
c.1439G>C (p.Gly480Ala)
c.2233G>C
c.5897G>C (p.Gly1966Ala)
c.3086G>C (p.Gly1029Ala)
14g.91272707C>TCA390608074CCDC88Cc.6005G>A (p.Gly2002Glu)
c.1439G>A (p.Gly480Glu)
c.2233G>A
c.5897G>A (p.Gly1966Glu)
c.3086G>A (p.Gly1029Glu)
14g.91272708C>ACA390608075CCDC88Cc.6004G>T (p.Gly2002Trp)
c.1438G>T (p.Gly480Trp)
c.2232G>T
c.5896G>T (p.Gly1966Trp)
c.3085G>T (p.Gly1029Trp)
 gnomAD v4
14g.91272708C=CA2154900172CCDC88Cc.6004G= (p.Gly2002=)
c.1438G= (p.Gly480=)
c.2232G=
c.5896G= (p.Gly1966=)
c.3085G= (p.Gly1029=)
14g.91272708C>GCA390608076CCDC88Cc.6004G>C (p.Gly2002Arg)
c.1438G>C (p.Gly480Arg)
c.2232G>C
c.5896G>C (p.Gly1966Arg)
c.3085G>C (p.Gly1029Arg)
14g.91272708C>TCA390608077CCDC88Cc.6004G>A (p.Gly2002Arg)
c.1438G>A (p.Gly480Arg)
c.2232G>A
c.5896G>A (p.Gly1966Arg)
c.3085G>A (p.Gly1029Arg)
 dbSNP
14g.91272709T>ACA487828520CCDC88Cc.6003A>T (p.Arg2001=)
c.1437A>T (p.Arg479=)
c.2231A>T
c.5895A>T (p.Arg1965=)
c.3084A>T (p.Arg1028=)
14g.91272709T>CCA487828521CCDC88Cc.6003A>G (p.Arg2001=)
c.1437A>G (p.Arg479=)
c.2231A>G
c.5895A>G (p.Arg1965=)
c.3084A>G (p.Arg1028=)
14g.91272709T>GCA487828522CCDC88Cc.6003A>C (p.Arg2001=)
c.1437A>C (p.Arg479=)
c.2231A>C
c.5895A>C (p.Arg1965=)
c.3084A>C (p.Arg1028=)
14g.91272710C>ACA390608078CCDC88Cc.6002G>T (p.Arg2001Leu)
c.1436G>T (p.Arg479Leu)
c.2230G>T
c.5894G>T (p.Arg1965Leu)
c.3083G>T (p.Arg1028Leu)
 gnomAD v4
14g.91272710C=CA2154900176CCDC88Cc.6002G= (p.Arg2001=)
c.1436G= (p.Arg479=)
c.2230G=
c.5894G= (p.Arg1965=)
c.3083G= (p.Arg1028=)
14g.91272710C>GCA390608079CCDC88Cc.6002G>C (p.Arg2001Pro)
c.1436G>C (p.Arg479Pro)
c.2230G>C
c.5894G>C (p.Arg1965Pro)
c.3083G>C (p.Arg1028Pro)
14g.91272710C>TCA7308536CCDC88Cc.6002G>A (p.Arg2001Gln)
c.1436G>A (p.Arg479Gln)
c.2230G>A
c.5894G>A (p.Arg1965Gln)
c.3083G>A (p.Arg1028Gln)
 dbSNP ExAC gnomAD v4
14g.91272711G>ACA390608080CCDC88Cc.6001C>T (p.Arg2001Ter)
c.1435C>T (p.Arg479Ter)
c.2229C>T
c.5893C>T (p.Arg1965Ter)
c.3082C>T (p.Arg1028Ter)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
14g.91272711G>CCA7308537CCDC88Cc.6001C>G (p.Arg2001Gly)
c.1435C>G (p.Arg479Gly)
c.2229C>G
c.5893C>G (p.Arg1965Gly)
c.3082C>G (p.Arg1028Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272711G=CA2154900180CCDC88Cc.6001C= (p.Arg2001=)
c.1435C= (p.Arg479=)
c.2229C=
c.5893C= (p.Arg1965=)
c.3082C= (p.Arg1028=)
14g.91272711G>TCA487828525CCDC88Cc.6001C>A (p.Arg2001=)
c.1435C>A (p.Arg479=)
c.2229C>A
c.5893C>A (p.Arg1965=)
c.3082C>A (p.Arg1028=)
 gnomAD v4
14g.91272712A>CCA390608081CCDC88Cc.6000T>G (p.Ser2000Arg)
c.1434T>G (p.Ser478Arg)
c.2228T>G
c.5892T>G (p.Ser1964Arg)
c.3081T>G (p.Ser1027Arg)
14g.91272712A>GCA487828528CCDC88Cc.6000T>C (p.Ser2000=)
c.1434T>C (p.Ser478=)
c.2228T>C
c.5892T>C (p.Ser1964=)
c.3081T>C (p.Ser1027=)
 gnomAD v4
14g.91272712A>TCA390608082CCDC88Cc.6000T>A (p.Ser2000Arg)
c.1434T>A (p.Ser478Arg)
c.2228T>A
c.5892T>A (p.Ser1964Arg)
c.3081T>A (p.Ser1027Arg)
14g.91272712_91272713delinsACCA2154900186CCDC88Cc.5999_6000delinsGT (p.Ser2000=)
c.1433_1434delinsGT (p.Ser478=)
c.2227_2228delinsGT
c.5891_5892delinsGT (p.Ser1964=)
c.3080_3081delinsGT (p.Ser1027=)
14g.91272713delCA709860298CCDC88Cc.5999del (p.Ser2000IlefsTer?)
c.1433del (p.Ser478IlefsTer?)
c.2227del
c.5891del (p.Ser1964IlefsTer?)
c.3080del (p.Ser1027IlefsTer?)
 dbSNP
14g.91272713C>ACA390608083CCDC88Cc.5999G>T (p.Ser2000Ile)
c.1433G>T (p.Ser478Ile)
c.2227G>T
c.5891G>T (p.Ser1964Ile)
c.3080G>T (p.Ser1027Ile)
14g.91272713C>GCA390608084CCDC88Cc.5999G>C (p.Ser2000Thr)
c.1433G>C (p.Ser478Thr)
c.2227G>C
c.5891G>C (p.Ser1964Thr)
c.3080G>C (p.Ser1027Thr)
14g.91272713C>TCA390608085CCDC88Cc.5999G>A (p.Ser2000Asn)
c.1433G>A (p.Ser478Asn)
c.2227G>A
c.5891G>A (p.Ser1964Asn)
c.3080G>A (p.Ser1027Asn)
14g.91272714T>ACA390608086CCDC88Cc.5998A>T (p.Ser2000Cys)
c.1432A>T (p.Ser478Cys)
c.2226A>T
c.5890A>T (p.Ser1964Cys)
c.3079A>T (p.Ser1027Cys)
14g.91272714T>CCA390608087CCDC88Cc.5998A>G (p.Ser2000Gly)
c.1432A>G (p.Ser478Gly)
c.2226A>G
c.5890A>G (p.Ser1964Gly)
c.3079A>G (p.Ser1027Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.91272714T>GCA390608088CCDC88Cc.5998A>C (p.Ser2000Arg)
c.1432A>C (p.Ser478Arg)
c.2226A>C
c.5890A>C (p.Ser1964Arg)
c.3079A>C (p.Ser1027Arg)
14g.91272714T=CA2154900194CCDC88Cc.5998A= (p.Ser2000=)
c.1432A= (p.Ser478=)
c.2226A=
c.5890A= (p.Ser1964=)
c.3079A= (p.Ser1027=)
14g.91272715G>ACA487828530CCDC88Cc.5997C>T (p.Cys1999=)
c.1431C>T (p.Cys477=)
c.2225C>T
c.5889C>T (p.Cys1963=)
c.3078C>T (p.Cys1026=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91272715G>CCA390608089CCDC88Cc.5997C>G (p.Cys1999Trp)
c.1431C>G (p.Cys477Trp)
c.2225C>G
c.5889C>G (p.Cys1963Trp)
c.3078C>G (p.Cys1026Trp)
 gnomAD v4
14g.91272715G=CA2154900202CCDC88Cc.5997C= (p.Cys1999=)
c.1431C= (p.Cys477=)
c.2225C=
c.5889C= (p.Cys1963=)
c.3078C= (p.Cys1026=)
14g.91272715G>TCA390608090CCDC88Cc.5997C>A (p.Cys1999Ter)
c.1431C>A (p.Cys477Ter)
c.2225C>A
c.5889C>A (p.Cys1963Ter)
c.3078C>A (p.Cys1026Ter)
 gnomAD v4
14g.91272716C>ACA390608091CCDC88Cc.5996G>T (p.Cys1999Phe)
c.1430G>T (p.Cys477Phe)
c.2224G>T
c.5888G>T (p.Cys1963Phe)
c.3077G>T (p.Cys1026Phe)
14g.91272716C=CA2154900207CCDC88Cc.5996G= (p.Cys1999=)
c.1430G= (p.Cys477=)
c.2224G=
c.5888G= (p.Cys1963=)
c.3077G= (p.Cys1026=)
14g.91272716C>GCA390608092CCDC88Cc.5996G>C (p.Cys1999Ser)
c.1430G>C (p.Cys477Ser)
c.2224G>C
c.5888G>C (p.Cys1963Ser)
c.3077G>C (p.Cys1026Ser)
14g.91272716C>TCA390608093CCDC88Cc.5996G>A (p.Cys1999Tyr)
c.1430G>A (p.Cys477Tyr)
c.2224G>A
c.5888G>A (p.Cys1963Tyr)
c.3077G>A (p.Cys1026Tyr)
 dbSNP gnomAD v2 gnomAD v4
14g.91272717A>CCA390608095CCDC88Cc.5995T>G (p.Cys1999Gly)
c.1429T>G (p.Cys477Gly)
c.2223T>G
c.5887T>G (p.Cys1963Gly)
c.3076T>G (p.Cys1026Gly)
14g.91272717A>GCA390608096CCDC88Cc.5995T>C (p.Cys1999Arg)
c.1429T>C (p.Cys477Arg)
c.2223T>C
c.5887T>C (p.Cys1963Arg)
c.3076T>C (p.Cys1026Arg)
 gnomAD v4
14g.91272717A>TCA390608094CCDC88Cc.5995T>A (p.Cys1999Ser)
c.1429T>A (p.Cys477Ser)
c.2223T>A
c.5887T>A (p.Cys1963Ser)
c.3076T>A (p.Cys1026Ser)
14g.91272718G>ACA487828531CCDC88Cc.5994C>T (p.Asp1998=)
c.1428C>T (p.Asp476=)
c.2222C>T
c.5886C>T (p.Asp1962=)
c.3075C>T (p.Asp1025=)
 gnomAD v4
14g.91272718G>CCA7308538CCDC88Cc.5994C>G (p.Asp1998Glu)
c.1428C>G (p.Asp476Glu)
c.2222C>G
c.5886C>G (p.Asp1962Glu)
c.3075C>G (p.Asp1025Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272718G=CA2154900211CCDC88Cc.5994C= (p.Asp1998=)
c.1428C= (p.Asp476=)
c.2222C=
c.5886C= (p.Asp1962=)
c.3075C= (p.Asp1025=)
14g.91272718G>TCA390608097CCDC88Cc.5994C>A (p.Asp1998Glu)
c.1428C>A (p.Asp476Glu)
c.2222C>A
c.5886C>A (p.Asp1962Glu)
c.3075C>A (p.Asp1025Glu)
 gnomAD v4
14g.91272719T>ACA390608098CCDC88Cc.5993A>T (p.Asp1998Val)
c.1427A>T (p.Asp476Val)
c.2221A>T
c.5885A>T (p.Asp1962Val)
c.3074A>T (p.Asp1025Val)
14g.91272719T>CCA390608100CCDC88Cc.5993A>G (p.Asp1998Gly)
c.1427A>G (p.Asp476Gly)
c.2221A>G
c.5885A>G (p.Asp1962Gly)
c.3074A>G (p.Asp1025Gly)
14g.91272719T>GCA390608099CCDC88Cc.5993A>C (p.Asp1998Ala)
c.1427A>C (p.Asp476Ala)
c.2221A>C
c.5885A>C (p.Asp1962Ala)
c.3074A>C (p.Asp1025Ala)
14g.91272720C>ACA390608101CCDC88Cc.5992G>T (p.Asp1998Tyr)
c.1426G>T (p.Asp476Tyr)
c.2220G>T
c.5884G>T (p.Asp1962Tyr)
c.3073G>T (p.Asp1025Tyr)
 gnomAD v4
14g.91272720C>GCA390608102CCDC88Cc.5992G>C (p.Asp1998His)
c.1426G>C (p.Asp476His)
c.2220G>C
c.5884G>C (p.Asp1962His)
c.3073G>C (p.Asp1025His)
14g.91272720C>TCA390608103CCDC88Cc.5992G>A (p.Asp1998Asn)
c.1426G>A (p.Asp476Asn)
c.2220G>A
c.5884G>A (p.Asp1962Asn)
c.3073G>A (p.Asp1025Asn)
 COSMIC COSMIC COSMIC
14g.91272721C>ACA390608104CCDC88Cc.5991G>T (p.Glu1997Asp)
c.1425G>T (p.Glu475Asp)
c.2219G>T
c.5883G>T (p.Glu1961Asp)
c.3072G>T (p.Glu1024Asp)
 gnomAD v4
14g.91272721C=CA2154900218CCDC88Cc.5991G= (p.Glu1997=)
c.1425G= (p.Glu475=)
c.2219G=
c.5883G= (p.Glu1961=)
c.3072G= (p.Glu1024=)
14g.91272721C>GCA390608105CCDC88Cc.5991G>C (p.Glu1997Asp)
c.1425G>C (p.Glu475Asp)
c.2219G>C
c.5883G>C (p.Glu1961Asp)
c.3072G>C (p.Glu1024Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.91272721C>TCA487828534CCDC88Cc.5991G>A (p.Glu1997=)
c.1425G>A (p.Glu475=)
c.2219G>A
c.5883G>A (p.Glu1961=)
c.3072G>A (p.Glu1024=)
 gnomAD v4
14g.91272722T>ACA390608108CCDC88Cc.5990A>T (p.Glu1997Val)
c.1424A>T (p.Glu475Val)
c.2218A>T
c.5882A>T (p.Glu1961Val)
c.3071A>T (p.Glu1024Val)
14g.91272722T>CCA390608113CCDC88Cc.5990A>G (p.Glu1997Gly)
c.1424A>G (p.Glu475Gly)
c.2218A>G
c.5882A>G (p.Glu1961Gly)
c.3071A>G (p.Glu1024Gly)
 gnomAD v4
14g.91272722T>GCA390608114CCDC88Cc.5990A>C (p.Glu1997Ala)
c.1424A>C (p.Glu475Ala)
c.2218A>C
c.5882A>C (p.Glu1961Ala)
c.3071A>C (p.Glu1024Ala)
14g.91272723C>ACA390608115CCDC88Cc.5989G>T (p.Glu1997Ter)
c.1423G>T (p.Glu475Ter)
c.2217G>T
c.5881G>T (p.Glu1961Ter)
c.3070G>T (p.Glu1024Ter)
 gnomAD v4
14g.91272723C>GCA390608116CCDC88Cc.5989G>C (p.Glu1997Gln)
c.1423G>C (p.Glu475Gln)
c.2217G>C
c.5881G>C (p.Glu1961Gln)
c.3070G>C (p.Glu1024Gln)
14g.91272723C>TCA390608117CCDC88Cc.5989G>A (p.Glu1997Lys)
c.1423G>A (p.Glu475Lys)
c.2217G>A
c.5881G>A (p.Glu1961Lys)
c.3070G>A (p.Glu1024Lys)
14g.91272724C>ACA487828537CCDC88Cc.5988G>T (p.Leu1996=)
c.1422G>T (p.Leu474=)
c.2216G>T
c.5880G>T (p.Leu1960=)
c.3069G>T (p.Leu1023=)
14g.91272724C=CA2154900221CCDC88Cc.5988G= (p.Leu1996=)
c.1422G= (p.Leu474=)
c.2216G=
c.5880G= (p.Leu1960=)
c.3069G= (p.Leu1023=)
14g.91272724C>GCA487828538CCDC88Cc.5988G>C (p.Leu1996=)
c.1422G>C (p.Leu474=)
c.2216G>C
c.5880G>C (p.Leu1960=)
c.3069G>C (p.Leu1023=)
14g.91272724C>TCA487828540CCDC88Cc.5988G>A (p.Leu1996=)
c.1422G>A (p.Leu474=)
c.2216G>A
c.5880G>A (p.Leu1960=)
c.3069G>A (p.Leu1023=)
 ClinVar dbSNP gnomAD v4
14g.91272725A=CA2154900224CCDC88Cc.5987T= (p.Leu1996=)
c.1421T= (p.Leu474=)
c.2215T=
c.5879T= (p.Leu1960=)
c.3068T= (p.Leu1023=)
14g.91272725A>CCA390608120CCDC88Cc.5987T>G (p.Leu1996Arg)
c.1421T>G (p.Leu474Arg)
c.2215T>G
c.5879T>G (p.Leu1960Arg)
c.3068T>G (p.Leu1023Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.91272725A>GCA390608118CCDC88Cc.5987T>C (p.Leu1996Pro)
c.1421T>C (p.Leu474Pro)
c.2215T>C
c.5879T>C (p.Leu1960Pro)
c.3068T>C (p.Leu1023Pro)
14g.91272725A>TCA390608119CCDC88Cc.5987T>A (p.Leu1996Gln)
c.1421T>A (p.Leu474Gln)
c.2215T>A
c.5879T>A (p.Leu1960Gln)
c.3068T>A (p.Leu1023Gln)
14g.91272726G>ACA487828541CCDC88Cc.5986C>T (p.Leu1996=)
c.1420C>T (p.Leu474=)
c.2214C>T
c.5878C>T (p.Leu1960=)
c.3067C>T (p.Leu1023=)
 gnomAD v4
14g.91272726G>CCA390608121CCDC88Cc.5986C>G (p.Leu1996Val)
c.1420C>G (p.Leu474Val)
c.2214C>G
c.5878C>G (p.Leu1960Val)
c.3067C>G (p.Leu1023Val)
 dbSNP
14g.91272726G=CA2154900226CCDC88Cc.5986C= (p.Leu1996=)
c.1420C= (p.Leu474=)
c.2214C=
c.5878C= (p.Leu1960=)
c.3067C= (p.Leu1023=)
14g.91272726G>TCA390608122CCDC88Cc.5986C>A (p.Leu1996Met)
c.1420C>A (p.Leu474Met)
c.2214C>A
c.5878C>A (p.Leu1960Met)
c.3067C>A (p.Leu1023Met)
 gnomAD v4
14g.91272727G>ACA487828544CCDC88Cc.5985C>T (p.Ala1995=)
c.1419C>T (p.Ala473=)
c.2213C>T
c.5877C>T (p.Ala1959=)
c.3066C>T (p.Ala1022=)
14g.91272727G>CCA487828543CCDC88Cc.5985C>G (p.Ala1995=)
c.1419C>G (p.Ala473=)
c.2213C>G
c.5877C>G (p.Ala1959=)
c.3066C>G (p.Ala1022=)
14g.91272727G>TCA487828542CCDC88Cc.5985C>A (p.Ala1995=)
c.1419C>A (p.Ala473=)
c.2213C>A
c.5877C>A (p.Ala1959=)
c.3066C>A (p.Ala1022=)
 gnomAD v4
14g.91272728G>ACA390608123CCDC88Cc.5984C>T (p.Ala1995Val)
c.1418C>T (p.Ala473Val)
c.2212C>T
c.5876C>T (p.Ala1959Val)
c.3065C>T (p.Ala1022Val)
 gnomAD v4
14g.91272728G>CCA390608124CCDC88Cc.5984C>G (p.Ala1995Gly)
c.1418C>G (p.Ala473Gly)
c.2212C>G
c.5876C>G (p.Ala1959Gly)
c.3065C>G (p.Ala1022Gly)
14g.91272728G>TCA390608125CCDC88Cc.5984C>A (p.Ala1995Asp)
c.1418C>A (p.Ala473Asp)
c.2212C>A
c.5876C>A (p.Ala1959Asp)
c.3065C>A (p.Ala1022Asp)
 gnomAD v4
14g.91272729C>ACA7308539CCDC88Cc.5983G>T (p.Ala1995Ser)
c.1417G>T (p.Ala473Ser)
c.2211G>T
c.5875G>T (p.Ala1959Ser)
c.3064G>T (p.Ala1022Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272729C=CA2154900230CCDC88Cc.5983G= (p.Ala1995=)
c.1417G= (p.Ala473=)
c.2211G=
c.5875G= (p.Ala1959=)
c.3064G= (p.Ala1022=)
14g.91272729C>GCA390608126CCDC88Cc.5983G>C (p.Ala1995Pro)
c.1417G>C (p.Ala473Pro)
c.2211G>C
c.5875G>C (p.Ala1959Pro)
c.3064G>C (p.Ala1022Pro)
14g.91272729C>TCA390608127CCDC88Cc.5983G>A (p.Ala1995Thr)
c.1417G>A (p.Ala473Thr)
c.2211G>A
c.5875G>A (p.Ala1959Thr)
c.3064G>A (p.Ala1022Thr)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272730C>ACA487828545CCDC88Cc.5982G>T (p.Arg1994=)
c.1416G>T (p.Arg472=)
c.2210G>T
c.5874G>T (p.Arg1958=)
c.3063G>T (p.Arg1021=)
14g.91272730C>GCA487828546CCDC88Cc.5982G>C (p.Arg1994=)
c.1416G>C (p.Arg472=)
c.2210G>C
c.5874G>C (p.Arg1958=)
c.3063G>C (p.Arg1021=)
14g.91272730C>TCA487828547CCDC88Cc.5982G>A (p.Arg1994=)
c.1416G>A (p.Arg472=)
c.2210G>A
c.5874G>A (p.Arg1958=)
c.3063G>A (p.Arg1021=)
 gnomAD v4
14g.91272731C>ACA7308540CCDC88Cc.5981G>T (p.Arg1994Leu)
c.1415G>T (p.Arg472Leu)
c.2209G>T
c.5873G>T (p.Arg1958Leu)
c.3062G>T (p.Arg1021Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272731C=CA2154900233CCDC88Cc.5981G= (p.Arg1994=)
c.1415G= (p.Arg472=)
c.2209G=
c.5873G= (p.Arg1958=)
c.3062G= (p.Arg1021=)
14g.91272731C>GCA390608128CCDC88Cc.5981G>C (p.Arg1994Pro)
c.1415G>C (p.Arg472Pro)
c.2209G>C
c.5873G>C (p.Arg1958Pro)
c.3062G>C (p.Arg1021Pro)
14g.91272731C>TCA7308541CCDC88Cc.5981G>A (p.Arg1994Gln)
c.1415G>A (p.Arg472Gln)
c.2209G>A
c.5873G>A (p.Arg1958Gln)
c.3062G>A (p.Arg1021Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272732G>ACA7308542CCDC88Cc.5980C>T (p.Arg1994Trp)
c.1414C>T (p.Arg472Trp)
c.2208C>T
c.5872C>T (p.Arg1958Trp)
c.3061C>T (p.Arg1021Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272732G>CCA171546CCDC88Cc.5980C>G (p.Arg1994Gly)
c.1414C>G (p.Arg472Gly)
c.2208C>G
c.5872C>G (p.Arg1958Gly)
c.3061C>G (p.Arg1021Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272732G=CA2154900237CCDC88Cc.5980C= (p.Arg1994=)
c.1414C= (p.Arg472=)
c.2208C=
c.5872C= (p.Arg1958=)
c.3061C= (p.Arg1021=)
14g.91272732G>TCA487828549CCDC88Cc.5980C>A (p.Arg1994=)
c.1414C>A (p.Arg472=)
c.2208C>A
c.5872C>A (p.Arg1958=)
c.3061C>A (p.Arg1021=)
 ClinVar gnomAD v4
14g.91272733G>ACA487828550CCDC88Cc.5979C>T (p.Gly1993=)
c.1413C>T (p.Gly471=)
c.2207C>T
c.5871C>T (p.Gly1957=)
c.3060C>T (p.Gly1020=)
14g.91272733G>CCA487828552CCDC88Cc.5979C>G (p.Gly1993=)
c.1413C>G (p.Gly471=)
c.2207C>G
c.5871C>G (p.Gly1957=)
c.3060C>G (p.Gly1020=)
14g.91272733G>TCA487828551CCDC88Cc.5979C>A (p.Gly1993=)
c.1413C>A (p.Gly471=)
c.2207C>A
c.5871C>A (p.Gly1957=)
c.3060C>A (p.Gly1020=)
 gnomAD v4
14g.91272734C>ACA390608129CCDC88Cc.5978G>T (p.Gly1993Val)
c.1412G>T (p.Gly471Val)
c.2206G>T
c.5870G>T (p.Gly1957Val)
c.3059G>T (p.Gly1020Val)
14g.91272734C>GCA390608130CCDC88Cc.5978G>C (p.Gly1993Ala)
c.1412G>C (p.Gly471Ala)
c.2206G>C
c.5870G>C (p.Gly1957Ala)
c.3059G>C (p.Gly1020Ala)
14g.91272734C>TCA390608131CCDC88Cc.5978G>A (p.Gly1993Asp)
c.1412G>A (p.Gly471Asp)
c.2206G>A
c.5870G>A (p.Gly1957Asp)
c.3059G>A (p.Gly1020Asp)
 gnomAD v4
14g.91272735C>ACA390608132CCDC88Cc.5977G>T (p.Gly1993Cys)
c.1411G>T (p.Gly471Cys)
c.2205G>T
c.5869G>T (p.Gly1957Cys)
c.3058G>T (p.Gly1020Cys)
 gnomAD v4
14g.91272735C=CA2154900243CCDC88Cc.5977G= (p.Gly1993=)
c.1411G= (p.Gly471=)
c.2205G=
c.5869G= (p.Gly1957=)
c.3058G= (p.Gly1020=)
14g.91272735C>GCA390608133CCDC88Cc.5977G>C (p.Gly1993Arg)
c.1411G>C (p.Gly471Arg)
c.2205G>C
c.5869G>C (p.Gly1957Arg)
c.3058G>C (p.Gly1020Arg)
14g.91272735C>TCA7308543CCDC88Cc.5977G>A (p.Gly1993Ser)
c.1411G>A (p.Gly471Ser)
c.2205G>A
c.5869G>A (p.Gly1957Ser)
c.3058G>A (p.Gly1020Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272736G>ACA7308544CCDC88Cc.5976C>T (p.Leu1992=)
c.1410C>T (p.Leu470=)
c.2204C>T
c.5868C>T (p.Leu1956=)
c.3057C>T (p.Leu1019=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272736G>CCA487828556CCDC88Cc.5976C>G (p.Leu1992=)
c.1410C>G (p.Leu470=)
c.2204C>G
c.5868C>G (p.Leu1956=)
c.3057C>G (p.Leu1019=)
14g.91272736G=CA2154900250CCDC88Cc.5976C= (p.Leu1992=)
c.1410C= (p.Leu470=)
c.2204C=
c.5868C= (p.Leu1956=)
c.3057C= (p.Leu1019=)
14g.91272736G>TCA487828557CCDC88Cc.5976C>A (p.Leu1992=)
c.1410C>A (p.Leu470=)
c.2204C>A
c.5868C>A (p.Leu1956=)
c.3057C>A (p.Leu1019=)
 dbSNP gnomAD v4
14g.91272736_91272737delinsAGCA658658267CCDC88Cc.5975_5976delinsCT (p.Leu1992Pro)
c.1409_1410delinsCT (p.Leu470Pro)
c.2203_2204delinsCT
c.5867_5868delinsCT (p.Leu1956Pro)
c.3056_3057delinsCT (p.Leu1019Pro)
 ClinVar dbSNP
14g.91272736_91272737delinsCGCA2739278569CCDC88Cc.5975_5976delinsCG (p.Leu1992Pro)
c.1409_1410delinsCG (p.Leu470Pro)
c.2203_2204delinsCG
c.5867_5868delinsCG (p.Leu1956Pro)
c.3056_3057delinsCG (p.Leu1019Pro)
 ClinVar
14g.91272736_91272737delinsGACA2154900253CCDC88Cc.5975_5976delinsTC (p.Leu1992=)
c.1409_1410delinsTC (p.Leu470=)
c.2203_2204delinsTC
c.5867_5868delinsTC (p.Leu1956=)
c.3056_3057delinsTC (p.Leu1019=)
14g.91272737delCA2626127260CCDC88Cc.5975del (p.Leu1992ProfsTer?)
c.1409del (p.Leu470ProfsTer?)
c.2203del
c.5867del (p.Leu1956ProfsTer?)
c.3056del (p.Leu1019ProfsTer?)
 gnomAD v4
14g.91272737A=CA2154900256CCDC88Cc.5975T= (p.Leu1992=)
c.1409T= (p.Leu470=)
c.2203T=
c.5867T= (p.Leu1956=)
c.3056T= (p.Leu1019=)
14g.91272737A>CCA390608134CCDC88Cc.5975T>G (p.Leu1992Arg)
c.1409T>G (p.Leu470Arg)
c.2203T>G
c.5867T>G (p.Leu1956Arg)
c.3056T>G (p.Leu1019Arg)
14g.91272737A>GCA171544CCDC88Cc.5975T>C (p.Leu1992Pro)
c.1409T>C (p.Leu470Pro)
c.2203T>C
c.5867T>C (p.Leu1956Pro)
c.3056T>C (p.Leu1019Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272737A>TCA390608135CCDC88Cc.5975T>A (p.Leu1992His)
c.1409T>A (p.Leu470His)
c.2203T>A
c.5867T>A (p.Leu1956His)
c.3056T>A (p.Leu1019His)
 dbSNP gnomAD v4
14g.91272738G>ACA390608136CCDC88Cc.5974C>T (p.Leu1992Phe)
c.1408C>T (p.Leu470Phe)
c.2202C>T
c.5866C>T (p.Leu1956Phe)
c.3055C>T (p.Leu1019Phe)
14g.91272738G>CCA390608137CCDC88Cc.5974C>G (p.Leu1992Val)
c.1408C>G (p.Leu470Val)
c.2202C>G
c.5866C>G (p.Leu1956Val)
c.3055C>G (p.Leu1019Val)
 gnomAD v4
14g.91272738G>TCA390608138CCDC88Cc.5974C>A (p.Leu1992Ile)
c.1408C>A (p.Leu470Ile)
c.2202C>A
c.5866C>A (p.Leu1956Ile)
c.3055C>A (p.Leu1019Ile)
 gnomAD v4
14g.91272739G>ACA487828560CCDC88Cc.5973C>T (p.His1991=)
c.1407C>T (p.His469=)
c.2201C>T
c.5865C>T (p.His1955=)
c.3054C>T (p.His1018=)
 gnomAD v4
14g.91272739G>CCA390608140CCDC88Cc.5973C>G (p.His1991Gln)
c.1407C>G (p.His469Gln)
c.2201C>G
c.5865C>G (p.His1955Gln)
c.3054C>G (p.His1018Gln)
 dbSNP gnomAD v2 gnomAD v4
14g.91272739G=CA2154900260CCDC88Cc.5973C= (p.His1991=)
c.1407C= (p.His469=)
c.2201C=
c.5865C= (p.His1955=)
c.3054C= (p.His1018=)
14g.91272739G>TCA390608139CCDC88Cc.5973C>A (p.His1991Gln)
c.1407C>A (p.His469Gln)
c.2201C>A
c.5865C>A (p.His1955Gln)
c.3054C>A (p.His1018Gln)
 gnomAD v4
14g.91272740T>ACA265517249CCDC88Cc.5972A>T (p.His1991Leu)
c.1406A>T (p.His469Leu)
c.2200A>T
c.5864A>T (p.His1955Leu)
c.3053A>T (p.His1018Leu)
 dbSNP gnomAD v4
14g.91272740T>CCA390608141CCDC88Cc.5972A>G (p.His1991Arg)
c.1406A>G (p.His469Arg)
c.2200A>G
c.5864A>G (p.His1955Arg)
c.3053A>G (p.His1018Arg)
14g.91272740T>GCA7308545CCDC88Cc.5972A>C (p.His1991Pro)
c.1406A>C (p.His469Pro)
c.2200A>C
c.5864A>C (p.His1955Pro)
c.3053A>C (p.His1018Pro)
 dbSNP ExAC gnomAD v2
14g.91272740T=CA2154900265CCDC88Cc.5972A= (p.His1991=)
c.1406A= (p.His469=)
c.2200A=
c.5864A= (p.His1955=)
c.3053A= (p.His1018=)
14g.91272741G>ACA390608142CCDC88Cc.5971C>T (p.His1991Tyr)
c.1405C>T (p.His469Tyr)
c.2199C>T
c.5863C>T (p.His1955Tyr)
c.3052C>T (p.His1018Tyr)
 dbSNP gnomAD v4
14g.91272741G>CCA390608143CCDC88Cc.5971C>G (p.His1991Asp)
c.1405C>G (p.His469Asp)
c.2199C>G
c.5863C>G (p.His1955Asp)
c.3052C>G (p.His1018Asp)
 dbSNP
14g.91272741G=CA2154900269CCDC88Cc.5971C= (p.His1991=)
c.1405C= (p.His469=)
c.2199C=
c.5863C= (p.His1955=)
c.3052C= (p.His1018=)
14g.91272741G>TCA390608144CCDC88Cc.5971C>A (p.His1991Asn)
c.1405C>A (p.His469Asn)
c.2199C>A
c.5863C>A (p.His1955Asn)
c.3052C>A (p.His1018Asn)
14g.91272744delCA2626127261CCDC88Cc.5971del (p.His1991ThrfsTer?)
c.1405del (p.His469ThrfsTer?)
c.2199del
c.5863del (p.His1955ThrfsTer?)
c.3052del (p.His1018ThrfsTer?)
 gnomAD v4
14g.91272743_91272744delCA2525990980CCDC88Cc.5970_5971del (p.His1991ProfsTer?)
c.1404_1405del (p.His469ProfsTer?)
c.2198_2199del
c.5862_5863del (p.His1955ProfsTer?)
c.3051_3052del (p.His1018ProfsTer?)
14g.91272742G>ACA7308547CCDC88Cc.5970C>T (p.Pro1990=)
c.1404C>T (p.Pro468=)
c.2198C>T
c.5862C>T (p.Pro1954=)
c.3051C>T (p.Pro1017=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272742G>CCA487828563CCDC88Cc.5970C>G (p.Pro1990=)
c.1404C>G (p.Pro468=)
c.2198C>G
c.5862C>G (p.Pro1954=)
c.3051C>G (p.Pro1017=)
14g.91272742G=CA2154900274CCDC88Cc.5970C= (p.Pro1990=)
c.1404C= (p.Pro468=)
c.2198C=
c.5862C= (p.Pro1954=)
c.3051C= (p.Pro1017=)
14g.91272742G>TCA7308546CCDC88Cc.5970C>A (p.Pro1990=)
c.1404C>A (p.Pro468=)
c.2198C>A
c.5862C>A (p.Pro1954=)
c.3051C>A (p.Pro1017=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272743G>ACA390608145CCDC88Cc.5969C>T (p.Pro1990Leu)
c.1403C>T (p.Pro468Leu)
c.2197C>T
c.5861C>T (p.Pro1954Leu)
c.3050C>T (p.Pro1017Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272743G>CCA390608146CCDC88Cc.5969C>G (p.Pro1990Arg)
c.1403C>G (p.Pro468Arg)
c.2197C>G
c.5861C>G (p.Pro1954Arg)
c.3050C>G (p.Pro1017Arg)
 gnomAD v4
14g.91272743G=CA2154900281CCDC88Cc.5969C= (p.Pro1990=)
c.1403C= (p.Pro468=)
c.2197C=
c.5861C= (p.Pro1954=)
c.3050C= (p.Pro1017=)
14g.91272743G>TCA390608147CCDC88Cc.5969C>A (p.Pro1990His)
c.1403C>A (p.Pro468His)
c.2197C>A
c.5861C>A (p.Pro1954His)
c.3050C>A (p.Pro1017His)
 gnomAD v4
14g.91272744G>ACA7308548CCDC88Cc.5968C>T (p.Pro1990Ser)
c.1402C>T (p.Pro468Ser)
c.2196C>T
c.5860C>T (p.Pro1954Ser)
c.3049C>T (p.Pro1017Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272744G>CCA390608150CCDC88Cc.5968C>G (p.Pro1990Ala)
c.1402C>G (p.Pro468Ala)
c.2196C>G
c.5860C>G (p.Pro1954Ala)
c.3049C>G (p.Pro1017Ala)
14g.91272744G=CA2154900294CCDC88Cc.5968C= (p.Pro1990=)
c.1402C= (p.Pro468=)
c.2196C=
c.5860C= (p.Pro1954=)
c.3049C= (p.Pro1017=)
14g.91272744G>TCA390608152CCDC88Cc.5968C>A (p.Pro1990Thr)
c.1402C>A (p.Pro468Thr)
c.2196C>A
c.5860C>A (p.Pro1954Thr)
c.3049C>A (p.Pro1017Thr)
 gnomAD v4
14g.91272744_91272745delinsGACA2154900292CCDC88Cc.5967_5968delinsTC (p.Ala1989=)
c.1401_1402delinsTC (p.Ala467=)
c.2195_2196delinsTC
c.5859_5860delinsTC (p.Ala1953=)
c.3048_3049delinsTC (p.Ala1016=)
14g.91272745delCA965920862CCDC88Cc.5967del (p.His1991ThrfsTer?)
c.1401del (p.His469ThrfsTer?)
c.2195del
c.5859del (p.His1955ThrfsTer?)
c.3048del (p.His1018ThrfsTer?)
 dbSNP gnomAD v3 gnomAD v4
14g.91272745A=CA2154900301CCDC88Cc.5967T= (p.Ala1989=)
c.1401T= (p.Ala467=)
c.2195T=
c.5859T= (p.Ala1953=)
c.3048T= (p.Ala1016=)
14g.91272745A>CCA487828566CCDC88Cc.5967T>G (p.Ala1989=)
c.1401T>G (p.Ala467=)
c.2195T>G
c.5859T>G (p.Ala1953=)
c.3048T>G (p.Ala1016=)
 dbSNP
14g.91272745A>GCA487828567CCDC88Cc.5967T>C (p.Ala1989=)
c.1401T>C (p.Ala467=)
c.2195T>C
c.5859T>C (p.Ala1953=)
c.3048T>C (p.Ala1016=)
 dbSNP gnomAD v3 gnomAD v4
14g.91272745A>TCA487828568CCDC88Cc.5967T>A (p.Ala1989=)
c.1401T>A (p.Ala467=)
c.2195T>A
c.5859T>A (p.Ala1953=)
c.3048T>A (p.Ala1016=)
 gnomAD v4
14g.91272746G>ACA390608157CCDC88Cc.5966C>T (p.Ala1989Val)
c.1400C>T (p.Ala467Val)
c.2194C>T
c.5858C>T (p.Ala1953Val)
c.3047C>T (p.Ala1016Val)
 gnomAD v4
14g.91272746G>CCA390608159CCDC88Cc.5966C>G (p.Ala1989Gly)
c.1400C>G (p.Ala467Gly)
c.2194C>G
c.5858C>G (p.Ala1953Gly)
c.3047C>G (p.Ala1016Gly)
14g.91272746G>TCA390608155CCDC88Cc.5966C>A (p.Ala1989Asp)
c.1400C>A (p.Ala467Asp)
c.2194C>A
c.5858C>A (p.Ala1953Asp)
c.3047C>A (p.Ala1016Asp)
 gnomAD v4
14g.91272747C>ACA390608164CCDC88Cc.5965G>T (p.Ala1989Ser)
c.1399G>T (p.Ala467Ser)
c.2193G>T
c.5857G>T (p.Ala1953Ser)
c.3046G>T (p.Ala1016Ser)
 gnomAD v4
14g.91272747C=CA2154900306CCDC88Cc.5965G= (p.Ala1989=)
c.1399G= (p.Ala467=)
c.2193G=
c.5857G= (p.Ala1953=)
c.3046G= (p.Ala1016=)
14g.91272747C>GCA390608162CCDC88Cc.5965G>C (p.Ala1989Pro)
c.1399G>C (p.Ala467Pro)
c.2193G>C
c.5857G>C (p.Ala1953Pro)
c.3046G>C (p.Ala1016Pro)
14g.91272747C>TCA390608163CCDC88Cc.5965G>A (p.Ala1989Thr)
c.1399G>A (p.Ala467Thr)
c.2193G>A
c.5857G>A (p.Ala1953Thr)
c.3046G>A (p.Ala1016Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272748C>ACA390608166CCDC88Cc.5964G>T (p.Leu1988Phe)
c.1398G>T (p.Leu466Phe)
c.2192G>T
c.5856G>T (p.Leu1952Phe)
c.3045G>T (p.Leu1015Phe)
14g.91272748C>GCA390608168CCDC88Cc.5964G>C (p.Leu1988Phe)
c.1398G>C (p.Leu466Phe)
c.2192G>C
c.5856G>C (p.Leu1952Phe)
c.3045G>C (p.Leu1015Phe)
14g.91272748C>TCA487828569CCDC88Cc.5964G>A (p.Leu1988=)
c.1398G>A (p.Leu466=)
c.2192G>A
c.5856G>A (p.Leu1952=)
c.3045G>A (p.Leu1015=)
 gnomAD v4
14g.91272749A>CCA390608171CCDC88Cc.5963T>G (p.Leu1988Trp)
c.1397T>G (p.Leu466Trp)
c.2191T>G
c.5855T>G (p.Leu1952Trp)
c.3044T>G (p.Leu1015Trp)
14g.91272749A>GCA390608172CCDC88Cc.5963T>C (p.Leu1988Ser)
c.1397T>C (p.Leu466Ser)
c.2191T>C
c.5855T>C (p.Leu1952Ser)
c.3044T>C (p.Leu1015Ser)
14g.91272749A>TCA390608175CCDC88Cc.5963T>A (p.Leu1988Ter)
c.1397T>A (p.Leu466Ter)
c.2191T>A
c.5855T>A (p.Leu1952Ter)
c.3044T>A (p.Leu1015Ter)
14g.91272750A>CCA390608177CCDC88Cc.5962T>G (p.Leu1988Val)
c.1396T>G (p.Leu466Val)
c.2190T>G
c.5854T>G (p.Leu1952Val)
c.3043T>G (p.Leu1015Val)
 gnomAD v4
14g.91272750A>GCA487828570CCDC88Cc.5962T>C (p.Leu1988=)
c.1396T>C (p.Leu466=)
c.2190T>C
c.5854T>C (p.Leu1952=)
c.3043T>C (p.Leu1015=)
14g.91272750A>TCA390608178CCDC88Cc.5962T>A (p.Leu1988Met)
c.1396T>A (p.Leu466Met)
c.2190T>A
c.5854T>A (p.Leu1952Met)
c.3043T>A (p.Leu1015Met)
14g.91272751A>CCA390608182CCDC88Cc.5961T>G (p.Asp1987Glu)
c.1395T>G (p.Asp465Glu)
c.2189T>G
c.5853T>G (p.Asp1951Glu)
c.3042T>G (p.Asp1014Glu)
14g.91272751A>GCA487828571CCDC88Cc.5961T>C (p.Asp1987=)
c.1395T>C (p.Asp465=)
c.2189T>C
c.5853T>C (p.Asp1951=)
c.3042T>C (p.Asp1014=)
14g.91272751A>TCA390608184CCDC88Cc.5961T>A (p.Asp1987Glu)
c.1395T>A (p.Asp465Glu)
c.2189T>A
c.5853T>A (p.Asp1951Glu)
c.3042T>A (p.Asp1014Glu)
14g.91272752T>ACA390608192CCDC88Cc.5960A>T (p.Asp1987Val)
c.1394A>T (p.Asp465Val)
c.2188A>T
c.5852A>T (p.Asp1951Val)
c.3041A>T (p.Asp1014Val)
14g.91272752T>CCA390608189CCDC88Cc.5960A>G (p.Asp1987Gly)
c.1394A>G (p.Asp465Gly)
c.2188A>G
c.5852A>G (p.Asp1951Gly)
c.3041A>G (p.Asp1014Gly)
14g.91272752T>GCA390608187CCDC88Cc.5960A>C (p.Asp1987Ala)
c.1394A>C (p.Asp465Ala)
c.2188A>C
c.5852A>C (p.Asp1951Ala)
c.3041A>C (p.Asp1014Ala)
14g.91272753C>ACA390608194CCDC88Cc.5959G>T (p.Asp1987Tyr)
c.1393G>T (p.Asp465Tyr)
c.2187G>T
c.5851G>T (p.Asp1951Tyr)
c.3040G>T (p.Asp1014Tyr)
 gnomAD v4
14g.91272753C=CA2154900310CCDC88Cc.5959G= (p.Asp1987=)
c.1393G= (p.Asp465=)
c.2187G=
c.5851G= (p.Asp1951=)
c.3040G= (p.Asp1014=)
14g.91272753C>GCA390608195CCDC88Cc.5959G>C (p.Asp1987His)
c.1393G>C (p.Asp465His)
c.2187G>C
c.5851G>C (p.Asp1951His)
c.3040G>C (p.Asp1014His)
14g.91272753C>TCA7308549CCDC88Cc.5959G>A (p.Asp1987Asn)
c.1393G>A (p.Asp465Asn)
c.2187G>A
c.5851G>A (p.Asp1951Asn)
c.3040G>A (p.Asp1014Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272754G>ACA7308550CCDC88Cc.5958C>T (p.Pro1986=)
c.1392C>T (p.Pro464=)
c.2186C>T
c.5850C>T (p.Pro1950=)
c.3039C>T (p.Pro1013=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272754G>CCA487828574CCDC88Cc.5958C>G (p.Pro1986=)
c.1392C>G (p.Pro464=)
c.2186C>G
c.5850C>G (p.Pro1950=)
c.3039C>G (p.Pro1013=)
 gnomAD v4
14g.91272754G=CA2154900313CCDC88Cc.5958C= (p.Pro1986=)
c.1392C= (p.Pro464=)
c.2186C=
c.5850C= (p.Pro1950=)
c.3039C= (p.Pro1013=)
14g.91272754G>TCA487828575CCDC88Cc.5958C>A (p.Pro1986=)
c.1392C>A (p.Pro464=)
c.2186C>A
c.5850C>A (p.Pro1950=)
c.3039C>A (p.Pro1013=)
 gnomAD v4
14g.91272756delCA2626127262CCDC88Cc.5958del (p.Asp1987IlefsTer?)
c.1392del (p.Asp465IlefsTer?)
c.2186del
c.5850del (p.Asp1951IlefsTer?)
c.3039del (p.Asp1014IlefsTer?)
 gnomAD v4
14g.91272755G>ACA390608201CCDC88Cc.5957C>T (p.Pro1986Leu)
c.1391C>T (p.Pro464Leu)
c.2185C>T
c.5849C>T (p.Pro1950Leu)
c.3038C>T (p.Pro1013Leu)
 gnomAD v4
14g.91272755G>CCA390608203CCDC88Cc.5957C>G (p.Pro1986Arg)
c.1391C>G (p.Pro464Arg)
c.2185C>G
c.5849C>G (p.Pro1950Arg)
c.3038C>G (p.Pro1013Arg)
14g.91272755G>TCA390608205CCDC88Cc.5957C>A (p.Pro1986His)
c.1391C>A (p.Pro464His)
c.2185C>A
c.5849C>A (p.Pro1950His)
c.3038C>A (p.Pro1013His)
 gnomAD v4
14g.91272756G>ACA390608207CCDC88Cc.5956C>T (p.Pro1986Ser)
c.1390C>T (p.Pro464Ser)
c.2184C>T
c.5848C>T (p.Pro1950Ser)
c.3037C>T (p.Pro1013Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.91272756G>CCA390608209CCDC88Cc.5956C>G (p.Pro1986Ala)
c.1390C>G (p.Pro464Ala)
c.2184C>G
c.5848C>G (p.Pro1950Ala)
c.3037C>G (p.Pro1013Ala)
14g.91272756G=CA2154900317CCDC88Cc.5956C= (p.Pro1986=)
c.1390C= (p.Pro464=)
c.2184C=
c.5848C= (p.Pro1950=)
c.3037C= (p.Pro1013=)
14g.91272756G>TCA390608212CCDC88Cc.5956C>A (p.Pro1986Thr)
c.1390C>A (p.Pro464Thr)
c.2184C>A
c.5848C>A (p.Pro1950Thr)
c.3037C>A (p.Pro1013Thr)
 gnomAD v4
14g.91272757A>CCA487828577CCDC88Cc.5955T>G (p.Ser1985=)
c.1389T>G (p.Ser463=)
c.2183T>G
c.5847T>G (p.Ser1949=)
c.3036T>G (p.Ser1012=)
 gnomAD v4
14g.91272757A>GCA487828578CCDC88Cc.5955T>C (p.Ser1985=)
c.1389T>C (p.Ser463=)
c.2183T>C
c.5847T>C (p.Ser1949=)
c.3036T>C (p.Ser1012=)
14g.91272757A>TCA487828579CCDC88Cc.5955T>A (p.Ser1985=)
c.1389T>A (p.Ser463=)
c.2183T>A
c.5847T>A (p.Ser1949=)
c.3036T>A (p.Ser1012=)
14g.91272758G>ACA7308551CCDC88Cc.5954C>T (p.Ser1985Phe)
c.1388C>T (p.Ser463Phe)
c.2182C>T
c.5846C>T (p.Ser1949Phe)
c.3035C>T (p.Ser1012Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272758G>CCA171542CCDC88Cc.5954C>G (p.Ser1985Cys)
c.1388C>G (p.Ser463Cys)
c.2182C>G
c.5846C>G (p.Ser1949Cys)
c.3035C>G (p.Ser1012Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272758G=CA2154900322CCDC88Cc.5954C= (p.Ser1985=)
c.1388C= (p.Ser463=)
c.2182C=
c.5846C= (p.Ser1949=)
c.3035C= (p.Ser1012=)
14g.91272758G>TCA390608216CCDC88Cc.5954C>A (p.Ser1985Tyr)
c.1388C>A (p.Ser463Tyr)
c.2182C>A
c.5846C>A (p.Ser1949Tyr)
c.3035C>A (p.Ser1012Tyr)
 gnomAD v4
14g.91272759A>CCA390608222CCDC88Cc.5953T>G (p.Ser1985Ala)
c.1387T>G (p.Ser463Ala)
c.2181T>G
c.5845T>G (p.Ser1949Ala)
c.3034T>G (p.Ser1012Ala)
 gnomAD v4
14g.91272759A>GCA390608224CCDC88Cc.5953T>C (p.Ser1985Pro)
c.1387T>C (p.Ser463Pro)
c.2181T>C
c.5845T>C (p.Ser1949Pro)
c.3034T>C (p.Ser1012Pro)
 gnomAD v4
14g.91272759A>TCA390608220CCDC88Cc.5953T>A (p.Ser1985Thr)
c.1387T>A (p.Ser463Thr)
c.2181T>A
c.5845T>A (p.Ser1949Thr)
c.3034T>A (p.Ser1012Thr)
14g.91272760C>ACA487828580CCDC88Cc.5952G>T (p.Arg1984=)
c.1386G>T (p.Arg462=)
c.2180G>T
c.5844G>T (p.Arg1948=)
c.3033G>T (p.Arg1011=)
14g.91272760C>GCA487828581CCDC88Cc.5952G>C (p.Arg1984=)
c.1386G>C (p.Arg462=)
c.2180G>C
c.5844G>C (p.Arg1948=)
c.3033G>C (p.Arg1011=)
14g.91272760C>TCA487828582CCDC88Cc.5952G>A (p.Arg1984=)
c.1386G>A (p.Arg462=)
c.2180G>A
c.5844G>A (p.Arg1948=)
c.3033G>A (p.Arg1011=)
 gnomAD v4
14g.91272761C>ACA390608228CCDC88Cc.5951G>T (p.Arg1984Leu)
c.1385G>T (p.Arg462Leu)
c.2179G>T
c.5843G>T (p.Arg1948Leu)
c.3032G>T (p.Arg1011Leu)
 gnomAD v4
14g.91272761C=CA2154900332CCDC88Cc.5951G= (p.Arg1984=)
c.1385G= (p.Arg462=)
c.2179G=
c.5843G= (p.Arg1948=)
c.3032G= (p.Arg1011=)
14g.91272761C>GCA390608233CCDC88Cc.5951G>C (p.Arg1984Pro)
c.1385G>C (p.Arg462Pro)
c.2179G>C
c.5843G>C (p.Arg1948Pro)
c.3032G>C (p.Arg1011Pro)
14g.91272761C>TCA7308552CCDC88Cc.5951G>A (p.Arg1984Gln)
c.1385G>A (p.Arg462Gln)
c.2179G>A
c.5843G>A (p.Arg1948Gln)
c.3032G>A (p.Arg1011Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272762G>ACA390608235CCDC88Cc.5950C>T (p.Arg1984Trp)
c.1384C>T (p.Arg462Trp)
c.2178C>T
c.5842C>T (p.Arg1948Trp)
c.3031C>T (p.Arg1011Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272762G>CCA390608237CCDC88Cc.5950C>G (p.Arg1984Gly)
c.1384C>G (p.Arg462Gly)
c.2178C>G
c.5842C>G (p.Arg1948Gly)
c.3031C>G (p.Arg1011Gly)
 gnomAD v4
14g.91272762G=CA2154900336CCDC88Cc.5950C= (p.Arg1984=)
c.1384C= (p.Arg462=)
c.2178C=
c.5842C= (p.Arg1948=)
c.3031C= (p.Arg1011=)
14g.91272762G>TCA487828584CCDC88Cc.5950C>A (p.Arg1984=)
c.1384C>A (p.Arg462=)
c.2178C>A
c.5842C>A (p.Arg1948=)
c.3031C>A (p.Arg1011=)
 gnomAD v4
14g.91272763A>CCA487828585CCDC88Cc.5949T>G (p.Gly1983=)
c.1383T>G (p.Gly461=)
c.2177T>G
c.5841T>G (p.Gly1947=)
c.3030T>G (p.Gly1010=)
14g.91272763A>GCA487828586CCDC88Cc.5949T>C (p.Gly1983=)
c.1383T>C (p.Gly461=)
c.2177T>C
c.5841T>C (p.Gly1947=)
c.3030T>C (p.Gly1010=)
14g.91272763A>TCA487828587CCDC88Cc.5949T>A (p.Gly1983=)
c.1383T>A (p.Gly461=)
c.2177T>A
c.5841T>A (p.Gly1947=)
c.3030T>A (p.Gly1010=)
14g.91272764C>ACA390608240CCDC88Cc.5948G>T (p.Gly1983Val)
c.1382G>T (p.Gly461Val)
c.2176G>T
c.5840G>T (p.Gly1947Val)
c.3029G>T (p.Gly1010Val)
14g.91272764C=CA2154900343CCDC88Cc.5948G= (p.Gly1983=)
c.1382G= (p.Gly461=)
c.2176G=
c.5840G= (p.Gly1947=)
c.3029G= (p.Gly1010=)
14g.91272764C>GCA171540CCDC88Cc.5948G>C (p.Gly1983Ala)
c.1382G>C (p.Gly461Ala)
c.2176G>C
c.5840G>C (p.Gly1947Ala)
c.3029G>C (p.Gly1010Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272764C>TCA390608243CCDC88Cc.5948G>A (p.Gly1983Asp)
c.1382G>A (p.Gly461Asp)
c.2176G>A
c.5840G>A (p.Gly1947Asp)
c.3029G>A (p.Gly1010Asp)
14g.91272765C>ACA390608246CCDC88Cc.5947G>T (p.Gly1983Cys)
c.1381G>T (p.Gly461Cys)
c.2175G>T
c.5839G>T (p.Gly1947Cys)
c.3028G>T (p.Gly1010Cys)
14g.91272765C>GCA390608248CCDC88Cc.5947G>C (p.Gly1983Arg)
c.1381G>C (p.Gly461Arg)
c.2175G>C
c.5839G>C (p.Gly1947Arg)
c.3028G>C (p.Gly1010Arg)
14g.91272765C>TCA390608250CCDC88Cc.5947G>A (p.Gly1983Ser)
c.1381G>A (p.Gly461Ser)
c.2175G>A
c.5839G>A (p.Gly1947Ser)
c.3028G>A (p.Gly1010Ser)
14g.91272766T>ACA487828594CCDC88Cc.5946A>T (p.Pro1982=)
c.1380A>T (p.Pro460=)
c.2174A>T
c.5838A>T (p.Pro1946=)
c.3027A>T (p.Pro1009=)
14g.91272766T>CCA487828595CCDC88Cc.5946A>G (p.Pro1982=)
c.1380A>G (p.Pro460=)
c.2174A>G
c.5838A>G (p.Pro1946=)
c.3027A>G (p.Pro1009=)
 gnomAD v4
14g.91272766T>GCA487828596CCDC88Cc.5946A>C (p.Pro1982=)
c.1380A>C (p.Pro460=)
c.2174A>C
c.5838A>C (p.Pro1946=)
c.3027A>C (p.Pro1009=)
14g.91272767G>ACA390608252CCDC88Cc.5945C>T (p.Pro1982Leu)
c.1379C>T (p.Pro460Leu)
c.2173C>T
c.5837C>T (p.Pro1946Leu)
c.3026C>T (p.Pro1009Leu)
 gnomAD v4
14g.91272767G>CCA390608255CCDC88Cc.5945C>G (p.Pro1982Arg)
c.1379C>G (p.Pro460Arg)
c.2173C>G
c.5837C>G (p.Pro1946Arg)
c.3026C>G (p.Pro1009Arg)
14g.91272767G>TCA390608257CCDC88Cc.5945C>A (p.Pro1982Gln)
c.1379C>A (p.Pro460Gln)
c.2173C>A
c.5837C>A (p.Pro1946Gln)
c.3026C>A (p.Pro1009Gln)
 gnomAD v4
14g.91272768G>ACA390608265CCDC88Cc.5944C>T (p.Pro1982Ser)
c.1378C>T (p.Pro460Ser)
c.2172C>T
c.5836C>T (p.Pro1946Ser)
c.3025C>T (p.Pro1009Ser)
14g.91272768G>CCA390608262CCDC88Cc.5944C>G (p.Pro1982Ala)
c.1378C>G (p.Pro460Ala)
c.2172C>G
c.5836C>G (p.Pro1946Ala)
c.3025C>G (p.Pro1009Ala)
14g.91272768G>TCA390608261CCDC88Cc.5944C>A (p.Pro1982Thr)
c.1378C>A (p.Pro460Thr)
c.2172C>A
c.5836C>A (p.Pro1946Thr)
c.3025C>A (p.Pro1009Thr)
 gnomAD v4
14g.91272769G>ACA487828601CCDC88Cc.5943C>T (p.Ser1981=)
c.1377C>T (p.Ser459=)
c.2171C>T
c.5835C>T (p.Ser1945=)
c.3024C>T (p.Ser1008=)
14g.91272769G>CCA390608269CCDC88Cc.5943C>G (p.Ser1981Arg)
c.1377C>G (p.Ser459Arg)
c.2171C>G
c.5835C>G (p.Ser1945Arg)
c.3024C>G (p.Ser1008Arg)
14g.91272769G=CA2154900353CCDC88Cc.5943C= (p.Ser1981=)
c.1377C= (p.Ser459=)
c.2171C=
c.5835C= (p.Ser1945=)
c.3024C= (p.Ser1008=)
14g.91272769G>TCA390608270CCDC88Cc.5943C>A (p.Ser1981Arg)
c.1377C>A (p.Ser459Arg)
c.2171C>A
c.5835C>A (p.Ser1945Arg)
c.3024C>A (p.Ser1008Arg)
 dbSNP gnomAD v4
14g.91272770C>ACA390608272CCDC88Cc.5942G>T (p.Ser1981Ile)
c.1376G>T (p.Ser459Ile)
c.2170G>T
c.5834G>T (p.Ser1945Ile)
c.3023G>T (p.Ser1008Ile)
 gnomAD v4
14g.91272770C=CA2154900356CCDC88Cc.5942G= (p.Ser1981=)
c.1376G= (p.Ser459=)
c.2170G=
c.5834G= (p.Ser1945=)
c.3023G= (p.Ser1008=)
14g.91272770C>GCA390608274CCDC88Cc.5942G>C (p.Ser1981Thr)
c.1376G>C (p.Ser459Thr)
c.2170G>C
c.5834G>C (p.Ser1945Thr)
c.3023G>C (p.Ser1008Thr)
 dbSNP gnomAD v2
14g.91272770C>TCA390608275CCDC88Cc.5942G>A (p.Ser1981Asn)
c.1376G>A (p.Ser459Asn)
c.2170G>A
c.5834G>A (p.Ser1945Asn)
c.3023G>A (p.Ser1008Asn)
 gnomAD v4
14g.91272771T>ACA390608278CCDC88Cc.5941A>T (p.Ser1981Cys)
c.1375A>T (p.Ser459Cys)
c.2169A>T
c.5833A>T (p.Ser1945Cys)
c.3022A>T (p.Ser1008Cys)
14g.91272771T>CCA390608281CCDC88Cc.5941A>G (p.Ser1981Gly)
c.1375A>G (p.Ser459Gly)
c.2169A>G
c.5833A>G (p.Ser1945Gly)
c.3022A>G (p.Ser1008Gly)
 gnomAD v4
14g.91272771T>GCA7308553CCDC88Cc.5941A>C (p.Ser1981Arg)
c.1375A>C (p.Ser459Arg)
c.2169A>C
c.5833A>C (p.Ser1945Arg)
c.3022A>C (p.Ser1008Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272771T=CA2154900361CCDC88Cc.5941A= (p.Ser1981=)
c.1375A= (p.Ser459=)
c.2169A=
c.5833A= (p.Ser1945=)
c.3022A= (p.Ser1008=)
14g.91272772C>ACA390608284CCDC88Cc.5940G>T (p.Lys1980Asn)
c.1374G>T (p.Lys458Asn)
c.2168G>T
c.5832G>T (p.Lys1944Asn)
c.3021G>T (p.Lys1007Asn)
14g.91272772C>GCA390608286CCDC88Cc.5940G>C (p.Lys1980Asn)
c.1374G>C (p.Lys458Asn)
c.2168G>C
c.5832G>C (p.Lys1944Asn)
c.3021G>C (p.Lys1007Asn)
14g.91272772C>TCA487828602CCDC88Cc.5940G>A (p.Lys1980=)
c.1374G>A (p.Lys458=)
c.2168G>A
c.5832G>A (p.Lys1944=)
c.3021G>A (p.Lys1007=)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272773T>ACA390608289CCDC88Cc.5939A>T (p.Lys1980Met)
c.1373A>T (p.Lys458Met)
c.2167A>T
c.5831A>T (p.Lys1944Met)
c.3020A>T (p.Lys1007Met)
14g.91272773T>CCA390608291CCDC88Cc.5939A>G (p.Lys1980Arg)
c.1373A>G (p.Lys458Arg)
c.2167A>G
c.5831A>G (p.Lys1944Arg)
c.3020A>G (p.Lys1007Arg)
 gnomAD v4
14g.91272773T>GCA390608294CCDC88Cc.5939A>C (p.Lys1980Thr)
c.1373A>C (p.Lys458Thr)
c.2167A>C
c.5831A>C (p.Lys1944Thr)
c.3020A>C (p.Lys1007Thr)
14g.91272774T>ACA390608297CCDC88Cc.5938A>T (p.Lys1980Ter)
c.1372A>T (p.Lys458Ter)
c.2166A>T
c.5830A>T (p.Lys1944Ter)
c.3019A>T (p.Lys1007Ter)
14g.91272774T>CCA390608302CCDC88Cc.5938A>G (p.Lys1980Glu)
c.1372A>G (p.Lys458Glu)
c.2166A>G
c.5830A>G (p.Lys1944Glu)
c.3019A>G (p.Lys1007Glu)
 gnomAD v4
14g.91272774T>GCA390608300CCDC88Cc.5938A>C (p.Lys1980Gln)
c.1372A>C (p.Lys458Gln)
c.2166A>C
c.5830A>C (p.Lys1944Gln)
c.3019A>C (p.Lys1007Gln)
14g.91272775G>ACA7308554CCDC88Cc.5937C>T (p.Ala1979=)
c.1371C>T (p.Ala457=)
c.2165C>T
c.5829C>T (p.Ala1943=)
c.3018C>T (p.Ala1006=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272775G>CCA487828607CCDC88Cc.5937C>G (p.Ala1979=)
c.1371C>G (p.Ala457=)
c.2165C>G
c.5829C>G (p.Ala1943=)
c.3018C>G (p.Ala1006=)
14g.91272775G=CA2154900369CCDC88Cc.5937C= (p.Ala1979=)
c.1371C= (p.Ala457=)
c.2165C=
c.5829C= (p.Ala1943=)
c.3018C= (p.Ala1006=)
14g.91272775G>TCA487828606CCDC88Cc.5937C>A (p.Ala1979=)
c.1371C>A (p.Ala457=)
c.2165C>A
c.5829C>A (p.Ala1943=)
c.3018C>A (p.Ala1006=)
14g.91272776delCA2626127264CCDC88Cc.5937del (p.Lys1980ArgfsTer?)
c.1371del (p.Lys458ArgfsTer?)
c.2165del
c.5829del (p.Lys1944ArgfsTer?)
c.3018del (p.Lys1007ArgfsTer?)
 gnomAD v4
14g.91272776G>ACA265517316CCDC88Cc.5936C>T (p.Ala1979Val)
c.1370C>T (p.Ala457Val)
c.2164C>T
c.5828C>T (p.Ala1943Val)
c.3017C>T (p.Ala1006Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91272776G>CCA390608307CCDC88Cc.5936C>G (p.Ala1979Gly)
c.1370C>G (p.Ala457Gly)
c.2164C>G
c.5828C>G (p.Ala1943Gly)
c.3017C>G (p.Ala1006Gly)
14g.91272776G=CA2154900374CCDC88Cc.5936C= (p.Ala1979=)
c.1370C= (p.Ala457=)
c.2164C=
c.5828C= (p.Ala1943=)
c.3017C= (p.Ala1006=)
14g.91272776G>TCA390608310CCDC88Cc.5936C>A (p.Ala1979Asp)
c.1370C>A (p.Ala457Asp)
c.2164C>A
c.5828C>A (p.Ala1943Asp)
c.3017C>A (p.Ala1006Asp)
 gnomAD v4
14g.91272777C>ACA390608313CCDC88Cc.5935G>T (p.Ala1979Ser)
c.1369G>T (p.Ala457Ser)
c.2163G>T
c.5827G>T (p.Ala1943Ser)
c.3016G>T (p.Ala1006Ser)
 ClinVar gnomAD v4
14g.91272777C>GCA390608315CCDC88Cc.5935G>C (p.Ala1979Pro)
c.1369G>C (p.Ala457Pro)
c.2163G>C
c.5827G>C (p.Ala1943Pro)
c.3016G>C (p.Ala1006Pro)
14g.91272777C>TCA390608316CCDC88Cc.5935G>A (p.Ala1979Thr)
c.1369G>A (p.Ala457Thr)
c.2163G>A
c.5827G>A (p.Ala1943Thr)
c.3016G>A (p.Ala1006Thr)
 gnomAD v4
14g.91272778C>ACA487828614CCDC88Cc.5934G>T (p.Pro1978=)
c.1368G>T (p.Pro456=)
c.2162G>T
c.5826G>T (p.Pro1942=)
c.3015G>T (p.Pro1005=)
14g.91272778C=CA2154900384CCDC88Cc.5934G= (p.Pro1978=)
c.1368G= (p.Pro456=)
c.2162G=
c.5826G= (p.Pro1942=)
c.3015G= (p.Pro1005=)
14g.91272778C>GCA487828613CCDC88Cc.5934G>C (p.Pro1978=)
c.1368G>C (p.Pro456=)
c.2162G>C
c.5826G>C (p.Pro1942=)
c.3015G>C (p.Pro1005=)
 ClinVar
14g.91272778C>TCA7308555CCDC88Cc.5934G>A (p.Pro1978=)
c.1368G>A (p.Pro456=)
c.2162G>A
c.5826G>A (p.Pro1942=)
c.3015G>A (p.Pro1005=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272779G>ACA7308556CCDC88Cc.5933C>T (p.Pro1978Leu)
c.1367C>T (p.Pro456Leu)
c.2161C>T
c.5825C>T (p.Pro1942Leu)
c.3014C>T (p.Pro1005Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272779G>CCA390608325CCDC88Cc.5933C>G (p.Pro1978Arg)
c.1367C>G (p.Pro456Arg)
c.2161C>G
c.5825C>G (p.Pro1942Arg)
c.3014C>G (p.Pro1005Arg)
14g.91272779G=CA2154900399CCDC88Cc.5933C= (p.Pro1978=)
c.1367C= (p.Pro456=)
c.2161C=
c.5825C= (p.Pro1942=)
c.3014C= (p.Pro1005=)
14g.91272779G>TCA390608328CCDC88Cc.5933C>A (p.Pro1978Gln)
c.1367C>A (p.Pro456Gln)
c.2161C>A
c.5825C>A (p.Pro1942Gln)
c.3014C>A (p.Pro1005Gln)
 dbSNP gnomAD v2 gnomAD v4
14g.91272780dupCA265517326CCDC88Cc.5933dup (p.Ala1979GlyfsTer?)
c.1367dup (p.Ala457GlyfsTer?)
c.2161dup
c.5825dup (p.Ala1943GlyfsTer?)
c.3014dup (p.Ala1006GlyfsTer?)
 dbSNP

Number of alleles fetched