Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.130452283_130452290dupCA2692119486ASS1c.55_62dup (p.Val22AlafsTer6)
c.169_176dup (p.Val60AlafsTer6)
c.151_158dup (p.Val54AlafsTer6)
 gnomAD v4
9g.130452286A>CCA375223573ASS1c.58A>C (p.Ile20Leu)
c.172A>C (p.Ile58Leu)
c.154A>C (p.Ile52Leu)
 gnomAD v4
9g.130452286A>GCA375223572ASS1c.58A>G (p.Ile20Val)
c.172A>G (p.Ile58Val)
c.154A>G (p.Ile52Val)
9g.130452286A>TCA375223571ASS1c.58A>T (p.Ile20Phe)
c.172A>T (p.Ile58Phe)
c.154A>T (p.Ile52Phe)
9g.130452287T>ACA375223574ASS1c.59T>A (p.Ile20Asn)
c.173T>A (p.Ile58Asn)
c.155T>A (p.Ile52Asn)
9g.130452287T>CCA375223576ASS1c.59T>C (p.Ile20Thr)
c.173T>C (p.Ile58Thr)
c.155T>C (p.Ile52Thr)
9g.130452287T>GCA375223575ASS1c.59T>G (p.Ile20Ser)
c.173T>G (p.Ile58Ser)
c.155T>G (p.Ile52Ser)
9g.130452288C>ACA467388174ASS1c.60C>A (p.Ile20=)
c.174C>A (p.Ile58=)
c.156C>A (p.Ile52=)
 gnomAD v4
9g.130452288C>GCA375223577ASS1c.60C>G (p.Ile20Met)
c.174C>G (p.Ile58Met)
c.156C>G (p.Ile52Met)
9g.130452288C>TCA467388175ASS1c.60C>T (p.Ile20=)
c.174C>T (p.Ile58=)
c.156C>T (p.Ile52=)
 ClinVar
9g.130452289C>ACA375223579ASS1c.61C>A (p.Leu21Ile)
c.175C>A (p.Leu59Ile)
c.157C>A (p.Leu53Ile)
9g.130452289C=CA1881244495ASS1c.61C= (p.Leu21=)
c.175C= (p.Leu59=)
c.157C= (p.Leu53=)
9g.130452289C>GCA375223578ASS1c.61C>G (p.Leu21Val)
c.175C>G (p.Leu59Val)
c.157C>G (p.Leu53Val)
9g.130452289C>TCA375223580ASS1c.61C>T (p.Leu21Phe)
c.175C>T (p.Leu59Phe)
c.157C>T (p.Leu53Phe)
 dbSNP gnomAD v4
9g.130452290T>ACA375223581ASS1c.62T>A (p.Leu21His)
c.176T>A (p.Leu59His)
c.158T>A (p.Leu53His)
9g.130452290T>CCA375223583ASS1c.62T>C (p.Leu21Pro)
c.176T>C (p.Leu59Pro)
c.158T>C (p.Leu53Pro)
9g.130452290T>GCA375223582ASS1c.62T>G (p.Leu21Arg)
c.176T>G (p.Leu59Arg)
c.158T>G (p.Leu53Arg)
9g.130452291C>ACA467388176ASS1c.63C>A (p.Leu21=)
c.177C>A (p.Leu59=)
c.159C>A (p.Leu53=)
 ClinVar dbSNP
9g.130452291C=CA1881244501ASS1c.63C= (p.Leu21=)
c.177C= (p.Leu59=)
c.159C= (p.Leu53=)
9g.130452291C>GCA5283132ASS1c.63C>G (p.Leu21=)
c.177C>G (p.Leu59=)
c.159C>G (p.Leu53=)
 dbSNP ExAC gnomAD v2
9g.130452291C>TCA16605381ASS1c.63C>T (p.Leu21=)
c.177C>T (p.Leu59=)
c.159C>T (p.Leu53=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130452292G>ACA5283134ASS1c.64G>A (p.Val22Met)
c.178G>A (p.Val60Met)
c.160G>A (p.Val54Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452292G>CCA5283135ASS1c.64G>C (p.Val22Leu)
c.178G>C (p.Val60Leu)
c.160G>C (p.Val54Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130452292G=CA1881244512ASS1c.64G= (p.Val22=)
c.178G= (p.Val60=)
c.160G= (p.Val54=)
9g.130452292G>TCA5283133ASS1c.64G>T (p.Val22Leu)
c.178G>T (p.Val60Leu)
c.160G>T (p.Val54Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.130452293T>ACA375223584ASS1c.65T>A (p.Val22Glu)
c.179T>A (p.Val60Glu)
c.161T>A (p.Val54Glu)
9g.130452293T>CCA375223585ASS1c.65T>C (p.Val22Ala)
c.179T>C (p.Val60Ala)
c.161T>C (p.Val54Ala)
9g.130452293T>GCA200603554ASS1c.65T>G (p.Val22Gly)
c.179T>G (p.Val60Gly)
c.161T>G (p.Val54Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.130452293T=CA1881244518ASS1c.65T= (p.Val22=)
c.179T= (p.Val60=)
c.161T= (p.Val54=)
9g.130452294delCA2580079790ASS1c.66del (p.Trp23GlyfsTer2)
c.180del (p.Trp61GlyfsTer2)
c.162del (p.Trp55GlyfsTer2)
 ClinVar
9g.130452294G>ACA5283136ASS1c.66G>A (p.Val22=)
c.180G>A (p.Val60=)
c.162G>A (p.Val54=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452294G>CCA467388178ASS1c.66G>C (p.Val22=)
c.180G>C (p.Val60=)
c.162G>C (p.Val54=)
9g.130452294G=CA1881244520ASS1c.66G= (p.Val22=)
c.180G= (p.Val60=)
c.162G= (p.Val54=)
9g.130452294G>TCA467388180ASS1c.66G>T (p.Val22=)
c.180G>T (p.Val60=)
c.162G>T (p.Val54=)
9g.130452295T>ACA375223586ASS1c.67T>A (p.Trp23Arg)
c.181T>A (p.Trp61Arg)
c.163T>A (p.Trp55Arg)
9g.130452295T>CCA375223587ASS1c.67T>C (p.Trp23Arg)
c.181T>C (p.Trp61Arg)
c.163T>C (p.Trp55Arg)
9g.130452295T>GCA375223588ASS1c.67T>G (p.Trp23Gly)
c.181T>G (p.Trp61Gly)
c.163T>G (p.Trp55Gly)
9g.130452296G>ACA375223589ASS1c.68G>A (p.Trp23Ter)
c.182G>A (p.Trp61Ter)
c.164G>A (p.Trp55Ter)
9g.130452296G>CCA375223590ASS1c.68G>C (p.Trp23Ser)
c.182G>C (p.Trp61Ser)
c.164G>C (p.Trp55Ser)
9g.130452296G>TCA375223591ASS1c.68G>T (p.Trp23Leu)
c.182G>T (p.Trp61Leu)
c.164G>T (p.Trp55Leu)
9g.130452297G>ACA375223594ASS1c.69G>A (p.Trp23Ter)
c.183G>A (p.Trp61Ter)
c.165G>A (p.Trp55Ter)
 ClinVar dbSNP
9g.130452297G>CCA375223592ASS1c.69G>C (p.Trp23Cys)
c.183G>C (p.Trp61Cys)
c.165G>C (p.Trp55Cys)
9g.130452297G=CA1881244522ASS1c.69G= (p.Trp23=)
c.183G= (p.Trp61=)
c.165G= (p.Trp55=)
9g.130452297G>TCA375223593ASS1c.69G>T (p.Trp23Cys)
c.183G>T (p.Trp61Cys)
c.165G>T (p.Trp55Cys)
 dbSNP
9g.130452298C>ACA375223595ASS1c.70C>A (p.Leu24Met)
c.184C>A (p.Leu62Met)
c.166C>A (p.Leu56Met)
9g.130452298C>GCA375223596ASS1c.70C>G (p.Leu24Val)
c.184C>G (p.Leu62Val)
c.166C>G (p.Leu56Val)
9g.130452298C>TCA467388181ASS1c.70C>T (p.Leu24=)
c.184C>T (p.Leu62=)
c.166C>T (p.Leu56=)
9g.130452299T>ACA375223597ASS1c.71T>A (p.Leu24Gln)
c.185T>A (p.Leu62Gln)
c.167T>A (p.Leu56Gln)
9g.130452299T>CCA375223598ASS1c.71T>C (p.Leu24Pro)
c.185T>C (p.Leu62Pro)
c.167T>C (p.Leu56Pro)
9g.130452299T>GCA375223599ASS1c.71T>G (p.Leu24Arg)
c.185T>G (p.Leu62Arg)
c.167T>G (p.Leu56Arg)
 gnomAD v4
9g.130452300G>ACA467388185ASS1c.72G>A (p.Leu24=)
c.186G>A (p.Leu62=)
c.168G>A (p.Leu56=)
9g.130452300G>CCA467388186ASS1c.72G>C (p.Leu24=)
c.186G>C (p.Leu62=)
c.168G>C (p.Leu56=)
9g.130452300G>TCA467388187ASS1c.72G>T (p.Leu24=)
c.186G>T (p.Leu62=)
c.168G>T (p.Leu56=)
9g.130452301A>CCA375223600ASS1c.73A>C (p.Lys25Gln)
c.187A>C (p.Lys63Gln)
c.169A>C (p.Lys57Gln)
9g.130452301A>GCA375223601ASS1c.73A>G (p.Lys25Glu)
c.187A>G (p.Lys63Glu)
c.169A>G (p.Lys57Glu)
9g.130452301A>TCA375223602ASS1c.73A>T (p.Lys25Ter)
c.187A>T (p.Lys63Ter)
c.169A>T (p.Lys57Ter)
9g.130452302A>CCA375223603ASS1c.74A>C (p.Lys25Thr)
c.188A>C (p.Lys63Thr)
c.170A>C (p.Lys57Thr)
9g.130452302A>GCA375223604ASS1c.74A>G (p.Lys25Arg)
c.188A>G (p.Lys63Arg)
c.170A>G (p.Lys57Arg)
9g.130452302A>TCA375223605ASS1c.74A>T (p.Lys25Met)
c.188A>T (p.Lys63Met)
c.170A>T (p.Lys57Met)
9g.130452303G>ACA467388191ASS1c.75G>A (p.Lys25=)
c.189G>A (p.Lys63=)
c.171G>A (p.Lys57=)
 dbSNP gnomAD v4
9g.130452303G>CCA375223607ASS1c.75G>C (p.Lys25Asn)
c.189G>C (p.Lys63Asn)
c.171G>C (p.Lys57Asn)
9g.130452303G=CA1881244524ASS1c.75G= (p.Lys25=)
c.189G= (p.Lys63=)
c.171G= (p.Lys57=)
9g.130452303G>TCA375223606ASS1c.75G>T (p.Lys25Asn)
c.189G>T (p.Lys63Asn)
c.171G>T (p.Lys57Asn)
9g.130452304G>ACA5283137ASS1c.76G>A (p.Glu26Lys)
c.190G>A (p.Glu64Lys)
c.172G>A (p.Glu58Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130452304G>CCA375223608ASS1c.76G>C (p.Glu26Gln)
c.190G>C (p.Glu64Gln)
c.172G>C (p.Glu58Gln)
9g.130452304G=CA1881244526ASS1c.76G= (p.Glu26=)
c.190G= (p.Glu64=)
c.172G= (p.Glu58=)
9g.130452304G>TCA375223609ASS1c.76G>T (p.Glu26Ter)
c.190G>T (p.Glu64Ter)
c.172G>T (p.Glu58Ter)
9g.130452305A>CCA375223610ASS1c.77A>C (p.Glu26Ala)
c.191A>C (p.Glu64Ala)
c.173A>C (p.Glu58Ala)
9g.130452305A>GCA375223611ASS1c.77A>G (p.Glu26Gly)
c.191A>G (p.Glu64Gly)
c.173A>G (p.Glu58Gly)
9g.130452305A>TCA375223612ASS1c.77A>T (p.Glu26Val)
c.191A>T (p.Glu64Val)
c.173A>T (p.Glu58Val)
9g.130452306A>CCA375223613ASS1c.78A>C (p.Glu26Asp)
c.192A>C (p.Glu64Asp)
c.174A>C (p.Glu58Asp)
9g.130452306A>GCA467388193ASS1c.78A>G (p.Glu26=)
c.192A>G (p.Glu64=)
c.174A>G (p.Glu58=)
9g.130452306A>TCA375223614ASS1c.78A>T (p.Glu26Asp)
c.192A>T (p.Glu64Asp)
c.174A>T (p.Glu58Asp)
9g.130452307C>ACA5283138ASS1c.79C>A (p.Gln27Lys)
c.193C>A (p.Gln65Lys)
c.175C>A (p.Gln59Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452307C=CA1881244529ASS1c.79C= (p.Gln27=)
c.193C= (p.Gln65=)
c.175C= (p.Gln59=)
9g.130452307C>GCA375223615ASS1c.79C>G (p.Gln27Glu)
c.193C>G (p.Gln65Glu)
c.175C>G (p.Gln59Glu)
9g.130452307C>TCA375223616ASS1c.79C>T (p.Gln27Ter)
c.193C>T (p.Gln65Ter)
c.175C>T (p.Gln59Ter)
 gnomAD v4
9g.130452308A>CCA375223617ASS1c.80A>C (p.Gln27Pro)
c.194A>C (p.Gln65Pro)
c.176A>C (p.Gln59Pro)
9g.130452308A>GCA375223618ASS1c.80A>G (p.Gln27Arg)
c.194A>G (p.Gln65Arg)
c.176A>G (p.Gln59Arg)
9g.130452308A>TCA375223619ASS1c.80A>T (p.Gln27Leu)
c.194A>T (p.Gln65Leu)
c.176A>T (p.Gln59Leu)
9g.130452309A>CCA375223620ASS1c.81A>C (p.Gln27His)
c.195A>C (p.Gln65His)
c.177A>C (p.Gln59His)
9g.130452309A>GCA467388195ASS1c.81A>G (p.Gln27=)
c.195A>G (p.Gln65=)
c.177A>G (p.Gln59=)
 gnomAD v3 gnomAD v4
9g.130452309A>TCA375223621ASS1c.81A>T (p.Gln27His)
c.195A>T (p.Gln65His)
c.177A>T (p.Gln59His)
9g.130452310G>ACA375223622ASS1c.82G>A (p.Gly28Ser)
c.196G>A (p.Gly66Ser)
c.178G>A (p.Gly60Ser)
9g.130452310G>CCA375223623ASS1c.82G>C (p.Gly28Arg)
c.196G>C (p.Gly66Arg)
c.178G>C (p.Gly60Arg)
9g.130452310G>TCA375223624ASS1c.82G>T (p.Gly28Cys)
c.196G>T (p.Gly66Cys)
c.178G>T (p.Gly60Cys)
9g.130452311G>ACA375223625ASS1c.83G>A (p.Gly28Asp)
c.197G>A (p.Gly66Asp)
c.179G>A (p.Gly60Asp)
9g.130452311G>CCA375223626ASS1c.83G>C (p.Gly28Ala)
c.197G>C (p.Gly66Ala)
c.179G>C (p.Gly60Ala)
9g.130452311G>TCA375223627ASS1c.83G>T (p.Gly28Val)
c.197G>T (p.Gly66Val)
c.179G>T (p.Gly60Val)
9g.130452312C>ACA467388196ASS1c.84C>A (p.Gly28=)
c.198C>A (p.Gly66=)
c.180C>A (p.Gly60=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130452312C=CA1881244535ASS1c.84C= (p.Gly28=)
c.198C= (p.Gly66=)
c.180C= (p.Gly60=)
9g.130452312C>GCA467388199ASS1c.84C>G (p.Gly28=)
c.198C>G (p.Gly66=)
c.180C>G (p.Gly60=)
9g.130452312C>TCA467388197ASS1c.84C>T (p.Gly28=)
c.198C>T (p.Gly66=)
c.180C>T (p.Gly60=)
9g.130452313T>ACA375223628ASS1c.85T>A (p.Tyr29Asn)
c.199T>A (p.Tyr67Asn)
c.181T>A (p.Tyr61Asn)
9g.130452313T>CCA375223629ASS1c.85T>C (p.Tyr29His)
c.199T>C (p.Tyr67His)
c.181T>C (p.Tyr61His)
 gnomAD v4
9g.130452313T>GCA375223630ASS1c.85T>G (p.Tyr29Asp)
c.199T>G (p.Tyr67Asp)
c.181T>G (p.Tyr61Asp)
9g.130452314A=CA1881244538ASS1c.86A= (p.Tyr29=)
c.200A= (p.Tyr67=)
c.182A= (p.Tyr61=)
9g.130452314A>CCA375223631ASS1c.86A>C (p.Tyr29Ser)
c.200A>C (p.Tyr67Ser)
c.182A>C (p.Tyr61Ser)
9g.130452314A>GCA375223632ASS1c.86A>G (p.Tyr29Cys)
c.200A>G (p.Tyr67Cys)
c.182A>G (p.Tyr61Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.130452314A>TCA375223633ASS1c.86A>T (p.Tyr29Phe)
c.200A>T (p.Tyr67Phe)
c.182A>T (p.Tyr61Phe)
9g.130452315T>ACA375223634ASS1c.87T>A (p.Tyr29Ter)
c.201T>A (p.Tyr67Ter)
c.183T>A (p.Tyr61Ter)
9g.130452315T>CCA467388200ASS1c.87T>C (p.Tyr29=)
c.201T>C (p.Tyr67=)
c.183T>C (p.Tyr61=)
 gnomAD v4
9g.130452315T>GCA375223635ASS1c.87T>G (p.Tyr29Ter)
c.201T>G (p.Tyr67Ter)
c.183T>G (p.Tyr61Ter)
9g.130452316G>ACA5283139ASS1c.88G>A (p.Asp30Asn)
c.202G>A (p.Asp68Asn)
c.184G>A (p.Asp62Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.130452316G>CCA375223637ASS1c.88G>C (p.Asp30His)
c.202G>C (p.Asp68His)
c.184G>C (p.Asp62His)
9g.130452316G=CA1881244541ASS1c.88G= (p.Asp30=)
c.202G= (p.Asp68=)
c.184G= (p.Asp62=)
9g.130452316G>TCA375223636ASS1c.88G>T (p.Asp30Tyr)
c.202G>T (p.Asp68Tyr)
c.184G>T (p.Asp62Tyr)
 dbSNP gnomAD v3 gnomAD v4
9g.130452317A>CCA375223638ASS1c.89A>C (p.Asp30Ala)
c.203A>C (p.Asp68Ala)
c.185A>C (p.Asp62Ala)
9g.130452317A>GCA375223639ASS1c.89A>G (p.Asp30Gly)
c.203A>G (p.Asp68Gly)
c.185A>G (p.Asp62Gly)
9g.130452317A>TCA375223640ASS1c.89A>T (p.Asp30Val)
c.203A>T (p.Asp68Val)
c.185A>T (p.Asp62Val)
9g.130452318C>ACA375223641ASS1c.90C>A (p.Asp30Glu)
c.204C>A (p.Asp68Glu)
c.186C>A (p.Asp62Glu)
 gnomAD v4
9g.130452318C=CA1881244544ASS1c.90C= (p.Asp30=)
c.204C= (p.Asp68=)
c.186C= (p.Asp62=)
9g.130452318C>GCA375223642ASS1c.90C>G (p.Asp30Glu)
c.204C>G (p.Asp68Glu)
c.186C>G (p.Asp62Glu)
9g.130452318C>TCA200603568ASS1c.90C>T (p.Asp30=)
c.204C>T (p.Asp68=)
c.186C>T (p.Asp62=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130452319G>ACA5283140ASS1c.91G>A (p.Val31Ile)
c.205G>A (p.Val69Ile)
c.187G>A (p.Val63Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452319G>CCA375223643ASS1c.91G>C (p.Val31Leu)
c.205G>C (p.Val69Leu)
c.187G>C (p.Val63Leu)
9g.130452319G=CA1881244548ASS1c.91G= (p.Val31=)
c.205G= (p.Val69=)
c.187G= (p.Val63=)
9g.130452319G>TCA375223644ASS1c.91G>T (p.Val31Phe)
c.205G>T (p.Val69Phe)
c.187G>T (p.Val63Phe)
 gnomAD v4
9g.130452320T>ACA375223645ASS1c.92T>A (p.Val31Asp)
c.206T>A (p.Val69Asp)
c.188T>A (p.Val63Asp)
9g.130452320T>CCA375223646ASS1c.92T>C (p.Val31Ala)
c.206T>C (p.Val69Ala)
c.188T>C (p.Val63Ala)
9g.130452320T>GCA375223647ASS1c.92T>G (p.Val31Gly)
c.206T>G (p.Val69Gly)
c.188T>G (p.Val63Gly)
9g.130452321C>ACA467388204ASS1c.93C>A (p.Val31=)
c.207C>A (p.Val69=)
c.189C>A (p.Val63=)
9g.130452321C>GCA467388202ASS1c.93C>G (p.Val31=)
c.207C>G (p.Val69=)
c.189C>G (p.Val63=)
9g.130452321C>TCA467388203ASS1c.93C>T (p.Val31=)
c.207C>T (p.Val69=)
c.189C>T (p.Val63=)
 gnomAD v4
9g.130452322A=CA1881244550ASS1c.94A= (p.Ile32=)
c.208A= (p.Ile70=)
c.190A= (p.Ile64=)
9g.130452322A>CCA375223649ASS1c.94A>C (p.Ile32Leu)
c.208A>C (p.Ile70Leu)
c.190A>C (p.Ile64Leu)
9g.130452322A>GCA200603573ASS1c.94A>G (p.Ile32Val)
c.208A>G (p.Ile70Val)
c.190A>G (p.Ile64Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.130452322A>TCA375223648ASS1c.94A>T (p.Ile32Phe)
c.208A>T (p.Ile70Phe)
c.190A>T (p.Ile64Phe)
9g.130452323_130452337delCA2580079791ASS1c.95_105+4del
c.209_219+4del
c.191_201+4del
 ClinVar
9g.130452323T>ACA375223650ASS1c.95T>A (p.Ile32Asn)
c.209T>A (p.Ile70Asn)
c.191T>A (p.Ile64Asn)
9g.130452323T>CCA375223651ASS1c.95T>C (p.Ile32Thr)
c.209T>C (p.Ile70Thr)
c.191T>C (p.Ile64Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.130452323T>GCA375223652ASS1c.95T>G (p.Ile32Ser)
c.209T>G (p.Ile70Ser)
c.191T>G (p.Ile64Ser)
9g.130452323T=CA1881244554ASS1c.95T= (p.Ile32=)
c.209T= (p.Ile70=)
c.191T= (p.Ile64=)
9g.130452324T>ACA467388205ASS1c.96T>A (p.Ile32=)
c.210T>A (p.Ile70=)
c.192T>A (p.Ile64=)
 gnomAD v4
9g.130452324T>CCA467388206ASS1c.96T>C (p.Ile32=)
c.210T>C (p.Ile70=)
c.192T>C (p.Ile64=)
9g.130452324T>GCA375223653ASS1c.96T>G (p.Ile32Met)
c.210T>G (p.Ile70Met)
c.192T>G (p.Ile64Met)
9g.130452325G>ACA375223654ASS1c.97G>A (p.Ala33Thr)
c.211G>A (p.Ala71Thr)
c.193G>A (p.Ala65Thr)
9g.130452325G>CCA375223655ASS1c.97G>C (p.Ala33Pro)
c.211G>C (p.Ala71Pro)
c.193G>C (p.Ala65Pro)
9g.130452325G=CA1881244557ASS1c.97G= (p.Ala33=)
c.211G= (p.Ala71=)
c.193G= (p.Ala65=)
9g.130452325G>TCA200603579ASS1c.97G>T (p.Ala33Ser)
c.211G>T (p.Ala71Ser)
c.193G>T (p.Ala65Ser)
 dbSNP
9g.130452326C>ACA375223656ASS1c.98C>A (p.Ala33Asp)
c.212C>A (p.Ala71Asp)
c.194C>A (p.Ala65Asp)
9g.130452326C>GCA375223657ASS1c.98C>G (p.Ala33Gly)
c.212C>G (p.Ala71Gly)
c.194C>G (p.Ala65Gly)
9g.130452326C>TCA375223658ASS1c.98C>T (p.Ala33Val)
c.212C>T (p.Ala71Val)
c.194C>T (p.Ala65Val)
9g.130452327C>ACA467388210ASS1c.99C>A (p.Ala33=)
c.213C>A (p.Ala71=)
c.195C>A (p.Ala65=)
9g.130452327C=CA1881244563ASS1c.99C= (p.Ala33=)
c.213C= (p.Ala71=)
c.195C= (p.Ala65=)
9g.130452327C>GCA467388209ASS1c.99C>G (p.Ala33=)
c.213C>G (p.Ala71=)
c.195C>G (p.Ala65=)
9g.130452327C>TCA5283141ASS1c.99C>T (p.Ala33=)
c.213C>T (p.Ala71=)
c.195C>T (p.Ala65=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452328T>ACA312356ASS1c.100T>A (p.Tyr34Asn)
c.214T>A (p.Tyr72Asn)
c.196T>A (p.Tyr66Asn)
 dbSNP
9g.130452328T>CCA375223660ASS1c.100T>C (p.Tyr34His)
c.214T>C (p.Tyr72His)
c.196T>C (p.Tyr66His)
9g.130452328T>GCA375223659ASS1c.100T>G (p.Tyr34Asp)
c.214T>G (p.Tyr72Asp)
c.196T>G (p.Tyr66Asp)
9g.130452328T=CA1881244566ASS1c.100T= (p.Tyr34=)
c.214T= (p.Tyr72=)
c.196T= (p.Tyr66=)
9g.130452328dupCA2695211650ASS1c.100dup (p.Tyr34LeufsTer29)
c.214dup (p.Tyr72LeufsTer29)
c.196dup (p.Tyr66LeufsTer29)
9g.130452329A>CCA375223661ASS1c.101A>C (p.Tyr34Ser)
c.215A>C (p.Tyr72Ser)
c.197A>C (p.Tyr66Ser)
 gnomAD v4
9g.130452329A>GCA375223662ASS1c.101A>G (p.Tyr34Cys)
c.215A>G (p.Tyr72Cys)
c.197A>G (p.Tyr66Cys)
 gnomAD v4
9g.130452329A>TCA375223663ASS1c.101A>T (p.Tyr34Phe)
c.215A>T (p.Tyr72Phe)
c.197A>T (p.Tyr66Phe)
9g.130452329_130452331delCA2692119546ASS1c.101_103del (p.Tyr34del)
c.215_217del (p.Tyr72del)
c.197_199del (p.Tyr66del)
 gnomAD v4
9g.130452330T>ACA375223664ASS1c.102T>A (p.Tyr34Ter)
c.216T>A (p.Tyr72Ter)
c.198T>A (p.Tyr66Ter)
9g.130452330T>CCA467388211ASS1c.102T>C (p.Tyr34=)
c.216T>C (p.Tyr72=)
c.198T>C (p.Tyr66=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.130452330T>GCA375223665ASS1c.102T>G (p.Tyr34Ter)
c.216T>G (p.Tyr72Ter)
c.198T>G (p.Tyr66Ter)
 gnomAD v4
9g.130452330T=CA1881244568ASS1c.102T= (p.Tyr34=)
c.216T= (p.Tyr72=)
c.198T= (p.Tyr66=)
9g.130452331C>ACA375223667ASS1c.103C>A (p.Leu35Met)
c.217C>A (p.Leu73Met)
c.199C>A (p.Leu67Met)
9g.130452331C=CA1881244571ASS1c.103C= (p.Leu35=)
c.217C= (p.Leu73=)
c.199C= (p.Leu67=)
9g.130452331C>GCA375223666ASS1c.103C>G (p.Leu35Val)
c.217C>G (p.Leu73Val)
c.199C>G (p.Leu67Val)
9g.130452331C>TCA5283142ASS1c.103C>T (p.Leu35=)
c.217C>T (p.Leu73=)
c.199C>T (p.Leu67=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452332T>ACA375223668ASS1c.104T>A (p.Leu35Gln)
c.218T>A (p.Leu73Gln)
c.200T>A (p.Leu67Gln)
9g.130452332T>CCA375223669ASS1c.104T>C (p.Leu35Pro)
c.218T>C (p.Leu73Pro)
c.200T>C (p.Leu67Pro)
9g.130452332T>GCA375223670ASS1c.104T>G (p.Leu35Arg)
c.218T>G (p.Leu73Arg)
c.200T>G (p.Leu67Arg)
9g.130452333G>ACA467388215ASS1c.105G>A (p.Leu35=)
c.219G>A (p.Leu73=)
c.201G>A (p.Leu67=)
9g.130452333G>CCA467388216ASS1c.105G>C (p.Leu35=)
c.219G>C (p.Leu73=)
c.201G>C (p.Leu67=)
9g.130452333G>TCA467388217ASS1c.105G>T (p.Leu35=)
c.219G>T (p.Leu73=)
c.201G>T (p.Leu67=)
9g.130452334G>ACA375223671ASS1c.105+1G>A (n.105+1G>A)
c.219+1G>A (n.219+1G>A)
c.201+1G>A (n.201+1G>A)
9g.130452334G>CCA375223672ASS1c.105+1G>C (n.105+1G>C)
c.219+1G>C (n.219+1G>C)
c.201+1G>C (n.201+1G>C)
9g.130452334G>TCA375223673ASS1c.105+1G>T (n.105+1G>T)
c.219+1G>T (n.219+1G>T)
c.201+1G>T (n.201+1G>T)
 gnomAD v4
9g.130452335T>ACA375223674ASS1c.105+2T>A (n.105+2T>A)
c.219+2T>A (n.219+2T>A)
c.201+2T>A (n.201+2T>A)
9g.130452335T>CCA375223676ASS1c.105+2T>C (n.105+2T>C)
c.219+2T>C (n.219+2T>C)
c.201+2T>C (n.201+2T>C)
9g.130452335T>GCA375223675ASS1c.105+2T>G (n.105+2T>G)
c.219+2T>G (n.219+2T>G)
c.201+2T>G (n.201+2T>G)
9g.130452336G>ACA2692119557ASS1c.105+3G>A (n.105+3G>A)
c.219+3G>A (n.219+3G>A)
c.201+3G>A (n.201+3G>A)
 gnomAD v4
9g.130452338G>ACA590703557ASS1c.105+5G>A (n.105+5G>A)
c.219+5G>A (n.219+5G>A)
c.201+5G>A (n.201+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.130452338G>CCA2692119560ASS1c.105+5G>C (n.105+5G>C)
c.219+5G>C (n.219+5G>C)
c.201+5G>C (n.201+5G>C)
 gnomAD v4
9g.130452338G=CA1881244574ASS1c.105+5G= (n.105+5G=)
c.219+5G= (n.219+5G=)
c.201+5G= (n.201+5G=)
9g.130452340delCA2579483309ASS1c.105+7del (n.105+7del)
c.219+7del (n.219+7del)
c.201+7del (n.201+7del)
9g.130452340G>ACA860467478ASS1c.105+7G>A (n.105+7G>A)
c.219+7G>A (n.219+7G>A)
c.201+7G>A (n.201+7G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.130452340G=CA1881244578ASS1c.105+7G= (n.105+7G=)
c.219+7G= (n.219+7G=)
c.201+7G= (n.201+7G=)
9g.130452341A>GCA2692119563ASS1c.105+8A>G (n.105+8A>G)
c.219+8A>G (n.219+8A>G)
c.201+8A>G (n.201+8A>G)
 gnomAD v4
9g.130452343C>ACA2573144312ASS1c.105+10C>A (n.105+10C>A)
c.219+10C>A (n.219+10C>A)
c.201+10C>A (n.201+10C>A)
 ClinVar dbSNP
9g.130452343C=CA1881244581ASS1c.105+10C= (n.105+10C=)
c.219+10C= (n.219+10C=)
c.201+10C= (n.201+10C=)
9g.130452343C>TCA200603591ASS1c.105+10C>T (n.105+10C>T)
c.219+10C>T (n.219+10C>T)
c.201+10C>T (n.201+10C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130452344G>ACA200603598ASS1c.105+11G>A (n.105+11G>A)
c.219+11G>A (n.219+11G>A)
c.201+11G>A (n.201+11G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130452344G=CA1881244583ASS1c.105+11G= (n.105+11G=)
c.219+11G= (n.219+11G=)
c.201+11G= (n.201+11G=)
9g.130452344G>TCA1129488244ASS1c.105+11G>T (n.105+11G>T)
c.219+11G>T (n.219+11G>T)
c.201+11G>T (n.201+11G>T)
 dbSNP gnomAD v3 gnomAD v4
9g.130452345A>GCA2692119568ASS1c.105+12A>G (n.105+12A>G)
c.219+12A>G (n.219+12A>G)
c.201+12A>G (n.201+12A>G)
 gnomAD v4
9g.130452346C=CA1881244585ASS1c.105+13C= (n.105+13C=)
c.219+13C= (n.219+13C=)
c.201+13C= (n.201+13C=)
9g.130452346C>GCA2692119570ASS1c.105+13C>G (n.105+13C>G)
c.219+13C>G (n.219+13C>G)
c.201+13C>G (n.201+13C>G)
 gnomAD v4
9g.130452346C>TCA5283143ASS1c.105+13C>T (n.105+13C>T)
c.219+13C>T (n.219+13C>T)
c.201+13C>T (n.201+13C>T)
 dbSNP ExAC gnomAD v2
9g.130452347C>ACA2692119571ASS1c.105+14C>A (n.105+14C>A)
c.219+14C>A (n.219+14C>A)
c.201+14C>A (n.201+14C>A)
 gnomAD v4
9g.130452347C=CA1881244587ASS1c.105+14C= (n.105+14C=)
c.219+14C= (n.219+14C=)
c.201+14C= (n.201+14C=)
9g.130452347C>GCA590703558ASS1c.105+14C>G (n.105+14C>G)
c.219+14C>G (n.219+14C>G)
c.201+14C>G (n.201+14C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.130452347C>TCA5283144ASS1c.105+14C>T (n.105+14C>T)
c.219+14C>T (n.219+14C>T)
c.201+14C>T (n.201+14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452348T>ACA2692119576ASS1c.105+15T>A (n.105+15T>A)
c.219+15T>A (n.219+15T>A)
c.201+15T>A (n.201+15T>A)
 gnomAD v4
9g.130452348_130452349delinsTGCA1881244589ASS1c.105+15_105+16delinsTG (n.105+15_105+16delinsTG)
c.219+15_219+16delinsTG (n.219+15_219+16delinsTG)
c.201+15_201+16delinsTG (n.201+15_201+16delinsTG)
9g.130452349G>ACA2692119578ASS1c.105+16G>A (n.105+16G>A)
c.219+16G>A (n.219+16G>A)
c.201+16G>A (n.201+16G>A)
 gnomAD v4
9g.130452351delCA590703559ASS1c.105+18del (n.105+18del)
c.219+18del (n.219+18del)
c.201+18del (n.201+18del)
 dbSNP gnomAD v2 gnomAD v4
9g.130452350G>ACA5283145ASS1c.105+17G>A (n.105+17G>A)
c.219+17G>A (n.219+17G>A)
c.201+17G>A (n.201+17G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130452350G>CCA2579483310ASS1c.105+17G>C (n.105+17G>C)
c.219+17G>C (n.219+17G>C)
c.201+17G>C (n.201+17G>C)
 ClinVar gnomAD v4
9g.130452350G=CA1881244592ASS1c.105+17G= (n.105+17G=)
c.219+17G= (n.219+17G=)
c.201+17G= (n.201+17G=)
9g.130452351G>ACA2692119582ASS1c.105+18G>A (n.105+18G>A)
c.219+18G>A (n.219+18G>A)
c.201+18G>A (n.201+18G>A)
 gnomAD v4
9g.130452351G>CCA2579483311ASS1c.105+18G>C (n.105+18G>C)
c.219+18G>C (n.219+18G>C)
c.201+18G>C (n.201+18G>C)
 gnomAD v4
9g.130452352T>CCA2579483312ASS1c.105+19T>C (n.105+19T>C)
c.219+19T>C (n.219+19T>C)
c.201+19T>C (n.201+19T>C)
 gnomAD v4
9g.130452353G>ACA590703560ASS1c.105+20G>A (n.105+20G>A)
c.219+20G>A (n.219+20G>A)
c.201+20G>A (n.201+20G>A)
 dbSNP gnomAD v2 gnomAD v4
9g.130452353G=CA1881244594ASS1c.105+20G= (n.105+20G=)
c.219+20G= (n.219+20G=)
c.201+20G= (n.201+20G=)
9g.130452355_130452356delCA2692119584ASS1c.105+22_105+23del (n.105+22_105+23del)
c.219+22_219+23del (n.219+22_219+23del)
c.201+22_201+23del (n.201+22_201+23del)
 dbSNP gnomAD v4
9g.130452355_130452357delinsCTGCA1881244596ASS1c.105+22_105+24delinsCTG (n.105+22_105+24delinsCTG)
c.219+22_219+24delinsCTG (n.219+22_219+24delinsCTG)
c.201+22_201+24delinsCTG (n.201+22_201+24delinsCTG)
9g.130452357_130452358delCA918565117ASS1c.105+24_105+25del (n.105+24_105+25del)
c.219+24_219+25del (n.219+24_219+25del)
c.201+24_201+25del (n.201+24_201+25del)
 dbSNP
9g.130452357G>CCA5283146ASS1c.105+24G>C (n.105+24G>C)
c.219+24G>C (n.219+24G>C)
c.201+24G>C (n.201+24G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130452357G=CA1881244598ASS1c.105+24G= (n.105+24G=)
c.219+24G= (n.219+24G=)
c.201+24G= (n.201+24G=)
9g.130452358T>ACA5283148ASS1c.105+25T>A (n.105+25T>A)
c.219+25T>A (n.219+25T>A)
c.201+25T>A (n.201+25T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452358T>CCA5283147ASS1c.105+25T>C (n.105+25T>C)
c.219+25T>C (n.219+25T>C)
c.201+25T>C (n.201+25T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130452358T=CA1881244600ASS1c.105+25T= (n.105+25T=)
c.219+25T= (n.219+25T=)
c.201+25T= (n.201+25T=)
9g.130452360T>GCA2720717433ASS1c.105+27T>G (n.105+27T>G)
c.219+27T>G (n.219+27T>G)
c.201+27T>G (n.201+27T>G)
 dbSNP
9g.130452362C>TCA2692119593ASS1c.105+29C>T (n.105+29C>T)
c.219+29C>T (n.219+29C>T)
c.201+29C>T (n.201+29C>T)
 gnomAD v4
9g.130452363delCA2692119592ASS1c.105+30del (n.105+30del)
c.219+30del (n.219+30del)
c.201+30del (n.201+30del)
 gnomAD v4
9g.130452363C>ACA2579483313ASS1c.105+30C>A (n.105+30C>A)
c.219+30C>A (n.219+30C>A)
c.201+30C>A (n.201+30C>A)
9g.130452366C>ACA590703561ASS1c.105+33C>A (n.105+33C>A)
c.219+33C>A (n.219+33C>A)
c.201+33C>A (n.201+33C>A)
 dbSNP gnomAD v2 gnomAD v4
9g.130452366C=CA1881244603ASS1c.105+33C= (n.105+33C=)
c.219+33C= (n.219+33C=)
c.201+33C= (n.201+33C=)
9g.130452366C>TCA200603655ASS1c.105+33C>T (n.105+33C>T)
c.219+33C>T (n.219+33C>T)
c.201+33C>T (n.201+33C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.130452367G>ACA5283149ASS1c.105+34G>A (n.105+34G>A)
c.219+34G>A (n.219+34G>A)
c.201+34G>A (n.201+34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130452367G=CA1881244605ASS1c.105+34G= (n.105+34G=)
c.219+34G= (n.219+34G=)
c.201+34G= (n.201+34G=)
9g.130452373T>CCA2720717531ASS1c.105+40T>C (n.105+40T>C)
c.219+40T>C (n.219+40T>C)
c.201+40T>C (n.201+40T>C)
 dbSNP
9g.130452374G>ACA5283150ASS1c.105+41G>A (n.105+41G>A)
c.219+41G>A (n.219+41G>A)
c.201+41G>A (n.201+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130452374G=CA1881244607ASS1c.105+41G= (n.105+41G=)
c.219+41G= (n.219+41G=)
c.201+41G= (n.201+41G=)
9g.130452375C>ACA2692119600ASS1c.105+42C>A (n.105+42C>A)
c.219+42C>A (n.219+42C>A)
c.201+42C>A (n.201+42C>A)
 gnomAD v4
9g.130452376A=CA1881244610ASS1c.105+43A= (n.105+43A=)
c.219+43A= (n.219+43A=)
c.201+43A= (n.201+43A=)
9g.130452376A>GCA590703562ASS1c.105+43A>G (n.105+43A>G)
c.219+43A>G (n.219+43A>G)
c.201+43A>G (n.201+43A>G)
 dbSNP gnomAD v2 gnomAD v4
9g.130452376A>TCA2786081921ASS1c.105+43A>T (n.105+43A>T)
c.219+43A>T (n.219+43A>T)
c.201+43A>T (n.201+43A>T)
9g.130452381G>CCA590703563ASS1c.105+48G>C (n.105+48G>C)
c.219+48G>C (n.219+48G>C)
c.201+48G>C (n.201+48G>C)
 dbSNP gnomAD v2 gnomAD v4
9g.130452381G=CA1881244613ASS1c.105+48G= (n.105+48G=)
c.219+48G= (n.219+48G=)
c.201+48G= (n.201+48G=)
9g.130452382T>CCA2786081922ASS1c.105+49T>C (n.105+49T>C)
c.219+49T>C (n.219+49T>C)
c.201+49T>C (n.201+49T>C)
9g.130452383C>ACA2579483314ASS1c.105+50C>A (n.105+50C>A)
c.219+50C>A (n.219+50C>A)
c.201+50C>A (n.201+50C>A)
 gnomAD v4
9g.130452383C>GCA2579483315ASS1c.105+50C>G (n.105+50C>G)
c.219+50C>G (n.219+50C>G)
c.201+50C>G (n.201+50C>G)
9g.130452383C>TCA2692119614ASS1c.105+50C>T (n.105+50C>T)
c.219+50C>T (n.219+50C>T)
c.201+50C>T (n.201+50C>T)
 gnomAD v4
9g.130452392_130452429delCA2692119611ASS1c.105+59_105+96del (n.105+59_105+96del)
c.219+59_219+96del (n.219+59_219+96del)
c.201+59_201+96del (n.201+59_201+96del)
 gnomAD v4
9g.130452384C>ACA2692119618ASS1c.105+51C>A (n.105+51C>A)
c.219+51C>A (n.219+51C>A)
c.201+51C>A (n.201+51C>A)
 gnomAD v4
9g.130452384C>TCA2692119619ASS1c.105+51C>T (n.105+51C>T)
c.219+51C>T (n.219+51C>T)
c.201+51C>T (n.201+51C>T)
 gnomAD v4

Number of alleles fetched