Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2326080G>ACA493361655ABCA3c.249C>T (p.Ile83=)
n.812C>T
ClinVar gnomAD v4
16g.2326080G>CCA394352089ABCA3c.249C>G (p.Ile83Met)
n.812C>G
16g.2326080G>TCA493361659ABCA3c.249C>A (p.Ile83=)
n.812C>A
16g.2326081A>CCA394352091ABCA3c.248T>G (p.Ile83Ser)
n.811T>G
16g.2326081A>GCA394352095ABCA3c.248T>C (p.Ile83Thr)
n.811T>C
16g.2326081A>TCA394352094ABCA3c.248T>A (p.Ile83Asn)
n.811T>A
16g.2326082T>ACA394352098ABCA3c.247A>T (p.Ile83Phe)
n.810A>T
16g.2326082T>CCA394352099ABCA3c.247A>G (p.Ile83Val)
n.810A>G
gnomAD v4
16g.2326082T>GCA394352102ABCA3c.247A>C (p.Ile83Leu)
n.810A>C
16g.2326083G>ACA493361666ABCA3c.246C>T (p.Tyr82=)
n.809C>T
dbSNP gnomAD v4
16g.2326083G>CCA394352105ABCA3c.246C>G (p.Tyr82Ter)
n.809C>G
16g.2326083G=CA2202173447ABCA3c.246C= (p.Tyr82=)
n.809C=
16g.2326083G>TCA394352109ABCA3c.246C>A (p.Tyr82Ter)
n.809C>A
16g.2326084T>ACA394352110ABCA3c.245A>T (p.Tyr82Phe)
n.808A>T
16g.2326084T>CCA394352111ABCA3c.245A>G (p.Tyr82Cys)
n.808A>G
16g.2326084T>GCA394352112ABCA3c.245A>C (p.Tyr82Ser)
n.808A>C
16g.2326085A>CCA394352113ABCA3c.244T>G (p.Tyr82Asp)
n.807T>G
16g.2326085A>GCA394352115ABCA3c.244T>C (p.Tyr82His)
n.807T>C
16g.2326085A>TCA394352116ABCA3c.244T>A (p.Tyr82Asn)
n.807T>A
16g.2326086G>ACA7841758ABCA3c.243C>T (p.Ala81=)
n.806C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2326086G>CCA493361675ABCA3c.243C>G (p.Ala81=)
n.806C>G
16g.2326086G=CA2202173450ABCA3c.243C= (p.Ala81=)
n.806C=
16g.2326086G>TCA493361677ABCA3c.243C>A (p.Ala81=)
n.806C>A
16g.2326087G>ACA394352122ABCA3c.242C>T (p.Ala81Val)
n.805C>T
gnomAD v4
16g.2326087G>CCA276853745ABCA3c.242C>G (p.Ala81Gly)
n.805C>G
dbSNP
16g.2326087G=CA2202173453ABCA3c.242C= (p.Ala81=)
n.805C=
16g.2326087G>TCA394352120ABCA3c.242C>A (p.Ala81Asp)
n.805C>A
16g.2326088C>ACA394352125ABCA3c.241G>T (p.Ala81Ser)
n.804G>T
16g.2326088C>GCA394352128ABCA3c.241G>C (p.Ala81Pro)
n.804G>C
16g.2326088C>TCA394352129ABCA3c.241G>A (p.Ala81Thr)
n.804G>A
16g.2326089A>CCA493361690ABCA3c.240T>G (p.Leu80=)
n.803T>G
gnomAD v4
16g.2326089A>GCA493361693ABCA3c.240T>C (p.Leu80=)
n.803T>C
dbSNP
16g.2326089A>TCA493361695ABCA3c.240T>A (p.Leu80=)
n.803T>A
16g.2326090A>CCA394352132ABCA3c.239T>G (p.Leu80Arg)
n.802T>G
16g.2326090A>GCA394352134ABCA3c.239T>C (p.Leu80Pro)
n.802T>C
16g.2326090A>TCA394352136ABCA3c.239T>A (p.Leu80His)
n.802T>A
16g.2326091G>ACA394352139ABCA3c.238C>T (p.Leu80Phe)
n.801C>T
16g.2326091G>CCA394352141ABCA3c.238C>G (p.Leu80Val)
n.801C>G
16g.2326091G>TCA394352144ABCA3c.238C>A (p.Leu80Ile)
n.801C>A
16g.2326092C>ACA394352145ABCA3c.237G>T (p.Glu79Asp)
n.800G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2326092C=CA2202173455ABCA3c.237G= (p.Glu79=)
n.800G=
16g.2326092C>GCA394352146ABCA3c.237G>C (p.Glu79Asp)
n.800G>C
16g.2326092C>TCA493361703ABCA3c.237G>A (p.Glu79=)
n.800G>A
16g.2326093T>ACA394352153ABCA3c.236A>T (p.Glu79Val)
n.799A>T
16g.2326093T>CCA394352150ABCA3c.236A>G (p.Glu79Gly)
n.799A>G
16g.2326093T>GCA394352149ABCA3c.236A>C (p.Glu79Ala)
n.799A>C
16g.2326094C>ACA394352156ABCA3c.235G>T (p.Glu79Ter)
n.798G>T
16g.2326094C=CA2202173458ABCA3c.235G= (p.Glu79=)
n.798G=
16g.2326094C>GCA394352157ABCA3c.235G>C (p.Glu79Gln)
n.798G>C
dbSNP
16g.2326094C>TCA394352160ABCA3c.235G>A (p.Glu79Lys)
n.798G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.2326095C>ACA394352162ABCA3c.234G>T (p.Trp78Cys)
n.797G>T
16g.2326095C>GCA394352163ABCA3c.234G>C (p.Trp78Cys)
n.797G>C
16g.2326095C>TCA394352164ABCA3c.234G>A (p.Trp78Ter)
n.797G>A
16g.2326096C>ACA394352167ABCA3c.233G>T (p.Trp78Leu)
n.796G>T
16g.2326096C=CA2202173462ABCA3c.233G= (p.Trp78=)
n.796G=
16g.2326096C>GCA394352168ABCA3c.233G>C (p.Trp78Ser)
n.796G>C
ClinVar dbSNP
16g.2326096C>TCA394352170ABCA3c.233G>A (p.Trp78Ter)
n.796G>A
16g.2326097A>CCA394352172ABCA3c.232T>G (p.Trp78Gly)
n.795T>G
gnomAD v4
16g.2326097A>GCA394352174ABCA3c.232T>C (p.Trp78Arg)
n.795T>C
COSMIC
16g.2326097A>TCA394352176ABCA3c.232T>A (p.Trp78Arg)
n.795T>A
16g.2326098G>ACA493361720ABCA3c.231C>T (p.Thr77=)
n.794C>T
16g.2326098G>CCA493361722ABCA3c.231C>G (p.Thr77=)
n.794C>G
16g.2326098G>TCA493361724ABCA3c.231C>A (p.Thr77=)
n.794C>A
16g.2326099G>ACA394352181ABCA3c.230C>T (p.Thr77Ile)
n.793C>T
gnomAD v4
16g.2326099G>CCA394352182ABCA3c.230C>G (p.Thr77Ser)
n.793C>G
gnomAD v4
16g.2326099G>TCA394352178ABCA3c.230C>A (p.Thr77Asn)
n.793C>A
16g.2326100T>ACA394352183ABCA3c.229A>T (p.Thr77Ser)
n.792A>T
16g.2326100T>CCA394352185ABCA3c.229A>G (p.Thr77Ala)
n.792A>G
gnomAD v4
16g.2326100T>GCA394352188ABCA3c.229A>C (p.Thr77Pro)
n.792A>C
16g.2326101G>ACA493361736ABCA3c.228C>T (p.Asp76=)
n.791C>T
16g.2326101G>CCA394352189ABCA3c.228C>G (p.Asp76Glu)
n.791C>G
16g.2326101G>TCA394352190ABCA3c.228C>A (p.Asp76Glu)
n.791C>A
gnomAD v4
16g.2326102T>ACA394352198ABCA3c.227A>T (p.Asp76Val)
n.790A>T
16g.2326102T>CCA394352193ABCA3c.227A>G (p.Asp76Gly)
n.790A>G
gnomAD v4
16g.2326102T>GCA394352195ABCA3c.227A>C (p.Asp76Ala)
n.790A>C
16g.2326103C>ACA394352199ABCA3c.226G>T (p.Asp76Tyr)
n.789G>T
16g.2326103C>GCA394352201ABCA3c.226G>C (p.Asp76His)
n.789G>C
16g.2326103C>TCA394352202ABCA3c.226G>A (p.Asp76Asn)
n.789G>A
16g.2326104T>ACA493361746ABCA3c.225A>T (p.Gly75=)
n.788A>T
16g.2326104T>CCA493361748ABCA3c.225A>G (p.Gly75=)
n.788A>G
16g.2326104T>GCA493361749ABCA3c.225A>C (p.Gly75=)
n.788A>C
16g.2326105C>ACA394352205ABCA3c.224G>T (p.Gly75Val)
n.787G>T
16g.2326105C>GCA394352208ABCA3c.224G>C (p.Gly75Ala)
n.787G>C
16g.2326105C>TCA394352209ABCA3c.224G>A (p.Gly75Glu)
n.787G>A
16g.2326106C>ACA394352213ABCA3c.223G>T (p.Gly75Ter)
n.786G>T
16g.2326106C>GCA394352215ABCA3c.223G>C (p.Gly75Arg)
n.786G>C
16g.2326106C>TCA394352212ABCA3c.223G>A (p.Gly75Arg)
n.786G>A
16g.2326107T>ACA493361758ABCA3c.222A>T (p.Pro74=)
n.785A>T
16g.2326107T>CCA493361762ABCA3c.222A>G (p.Pro74=)
n.785A>G
16g.2326107T>GCA493361760ABCA3c.222A>C (p.Pro74=)
n.785A>C
16g.2326108G>ACA394352217ABCA3c.221C>T (p.Pro74Leu)
n.784C>T
16g.2326108G>CCA394352223ABCA3c.221C>G (p.Pro74Arg)
n.784C>G
16g.2326108G>TCA394352220ABCA3c.221C>A (p.Pro74Gln)
n.784C>A
16g.2326109G>ACA394352225ABCA3c.220C>T (p.Pro74Ser)
n.783C>T
dbSNP gnomAD v2 gnomAD v4
16g.2326109G>CCA394352229ABCA3c.220C>G (p.Pro74Ala)
n.783C>G
16g.2326109G=CA2202173466ABCA3c.220C= (p.Pro74=)
n.783C=
16g.2326109G>TCA394352227ABCA3c.220C>A (p.Pro74Thr)
n.783C>A
COSMIC
16g.2326110C>ACA276853752ABCA3c.219G>T (p.Pro73=)
n.782G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2326110C=CA2202173471ABCA3c.219G= (p.Pro73=)
n.782G=
16g.2326110C>GCA493361770ABCA3c.219G>C (p.Pro73=)
n.782G>C
16g.2326110C>TCA7841759ABCA3c.219G>A (p.Pro73=)
n.782G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2326110dupCA719179515ABCA3c.219dup (p.Pro74AlafsTer15)
n.782dup
dbSNP
16g.2326111G>ACA7841760ABCA3c.218C>T (p.Pro73Leu)
n.781C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2326111G>CCA394352236ABCA3c.218C>G (p.Pro73Arg)
n.781C>G
16g.2326111G=CA2202173478ABCA3c.218C= (p.Pro73=)
n.781C=
16g.2326111G>TCA394352238ABCA3c.218C>A (p.Pro73Gln)
n.781C>A
16g.2326112G>ACA7841761ABCA3c.217C>T (p.Pro73Ser)
n.780C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.2326112G>CCA394352242ABCA3c.217C>G (p.Pro73Ala)
n.780C>G
16g.2326112G=CA2202173483ABCA3c.217C= (p.Pro73=)
n.780C=
16g.2326112G>TCA7841762ABCA3c.217C>A (p.Pro73Thr)
n.780C>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2326113A=CA2202173488ABCA3c.216T= (p.Pro72=)
n.779T=
16g.2326113A>CCA493361779ABCA3c.216T>G (p.Pro72=)
n.779T>G
16g.2326113A>GCA493361781ABCA3c.216T>C (p.Pro72=)
n.779T>C
16g.2326113A>TCA493361782ABCA3c.216T>A (p.Pro72=)
n.779T>A
16g.2326114G>ACA276853777ABCA3c.215C>T (p.Pro72Leu)
n.778C>T
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.2326114G>CCA394352248ABCA3c.215C>G (p.Pro72Arg)
n.778C>G
gnomAD v4 COSMIC
16g.2326114G=CA2202173493ABCA3c.215C= (p.Pro72=)
n.778C=
16g.2326114G>TCA394352249ABCA3c.215C>A (p.Pro72His)
n.778C>A
16g.2326116dupCA2202173494ABCA3c.215dup (p.Pro73SerfsTer16)
n.778dup
dbSNP
16g.2326115G>ACA394352250ABCA3c.214C>T (p.Pro72Ser)
n.777C>T
dbSNP gnomAD v3 gnomAD v4
16g.2326115G>CCA394352255ABCA3c.214C>G (p.Pro72Ala)
n.777C>G
16g.2326115G=CA2202173499ABCA3c.214C= (p.Pro72=)
n.777C=
16g.2326115G>TCA394352252ABCA3c.214C>A (p.Pro72Thr)
n.777C>A
gnomAD v4
16g.2326116G>ACA7841763ABCA3c.213C>T (p.Phe71=)
n.776C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2326116G>CCA394352257ABCA3c.213C>G (p.Phe71Leu)
n.776C>G
16g.2326116G=CA2202173503ABCA3c.213C= (p.Phe71=)
n.776C=
16g.2326116G>TCA394352260ABCA3c.213C>A (p.Phe71Leu)
n.776C>A
16g.2326117A>CCA394352262ABCA3c.212T>G (p.Phe71Cys)
n.775T>G
16g.2326117A>GCA394352264ABCA3c.212T>C (p.Phe71Ser)
n.775T>C
16g.2326117A>TCA394352266ABCA3c.212T>A (p.Phe71Tyr)
n.775T>A
16g.2326118A>CCA394352268ABCA3c.211T>G (p.Phe71Val)
n.774T>G
16g.2326118A>GCA394352271ABCA3c.211T>C (p.Phe71Leu)
n.774T>C
gnomAD v4
16g.2326118A>TCA394352274ABCA3c.211T>A (p.Phe71Ile)
n.774T>A
16g.2326119G>ACA493361800ABCA3c.210C>T (p.Thr70=)
n.773C>T
dbSNP gnomAD v4
16g.2326119G>CCA493361801ABCA3c.210C>G (p.Thr70=)
n.773C>G
dbSNP gnomAD v2
16g.2326119G=CA2202173508ABCA3c.210C= (p.Thr70=)
n.773C=
16g.2326119G>TCA493361803ABCA3c.210C>A (p.Thr70=)
n.773C>A
16g.2326120G>ACA394352277ABCA3c.209C>T (p.Thr70Ile)
n.772C>T
16g.2326120G>CCA394352280ABCA3c.209C>G (p.Thr70Ser)
n.772C>G
16g.2326120G>TCA394352276ABCA3c.209C>A (p.Thr70Asn)
n.772C>A
16g.2326121T>ACA394352281ABCA3c.208A>T (p.Thr70Ser)
n.771A>T
16g.2326121T>CCA394352284ABCA3c.208A>G (p.Thr70Ala)
n.771A>G
16g.2326121T>GCA394352286ABCA3c.208A>C (p.Thr70Pro)
n.771A>C
dbSNP
16g.2326121T=CA2202173511ABCA3c.208A= (p.Thr70=)
n.771A=
16g.2326122G>ACA493361812ABCA3c.207C>T (p.Phe69=)
n.770C>T
16g.2326122G>CCA394352288ABCA3c.207C>G (p.Phe69Leu)
n.770C>G
16g.2326122G>TCA394352291ABCA3c.207C>A (p.Phe69Leu)
n.770C>A
16g.2326123A>CCA394352298ABCA3c.206T>G (p.Phe69Cys)
n.769T>G
16g.2326123A>GCA394352294ABCA3c.206T>C (p.Phe69Ser)
n.769T>C
16g.2326123A>TCA394352296ABCA3c.206T>A (p.Phe69Tyr)
n.769T>A
16g.2326124A>CCA394352301ABCA3c.205T>G (p.Phe69Val)
n.768T>G
16g.2326124A>GCA394352303ABCA3c.205T>C (p.Phe69Leu)
n.768T>C
gnomAD v4
16g.2326124A>TCA394352306ABCA3c.205T>A (p.Phe69Ile)
n.768T>A
16g.2326125G>ACA493361822ABCA3c.204C>T (p.Phe68=)
n.767C>T
16g.2326125G>CCA394352307ABCA3c.204C>G (p.Phe68Leu)
n.767C>G
16g.2326125G>TCA394352309ABCA3c.204C>A (p.Phe68Leu)
n.767C>A
16g.2326126A>CCA394352311ABCA3c.203T>G (p.Phe68Cys)
n.766T>G
16g.2326126A>GCA394352316ABCA3c.203T>C (p.Phe68Ser)
n.766T>C
16g.2326126A>TCA394352314ABCA3c.203T>A (p.Phe68Tyr)
n.766T>A
16g.2326127A>CCA394352318ABCA3c.202T>G (p.Phe68Val)
n.765T>G
16g.2326127A>GCA394352321ABCA3c.202T>C (p.Phe68Leu)
n.765T>C
16g.2326127A>TCA394352322ABCA3c.202T>A (p.Phe68Ile)
n.765T>A
16g.2326128C>ACA493361832ABCA3c.201G>T (p.Leu67=)
n.764G>T
16g.2326128C=CA2202169061ABCA3c.201G= (p.Leu67=)
n.764G=
16g.2326128C>GCA493361834ABCA3c.201G>C (p.Leu67=)
n.764G>C
dbSNP gnomAD v4
16g.2326128C>TCA493361836ABCA3c.201G>A (p.Leu67=)
n.764G>A
gnomAD v4
16g.2326129A>CCA394352324ABCA3c.200T>G (p.Leu67Arg)
n.763T>G
16g.2326129A>GCA394352327ABCA3c.200T>C (p.Leu67Pro)
n.763T>C
16g.2326129A>TCA394352328ABCA3c.200T>A (p.Leu67Gln)
n.763T>A
16g.2326130G>ACA493361841ABCA3c.199C>T (p.Leu67=)
n.762C>T
16g.2326130G>CCA394352329ABCA3c.199C>G (p.Leu67Val)
n.762C>G
16g.2326130G>TCA394352331ABCA3c.199C>A (p.Leu67Met)
n.762C>A
16g.2326131A=CA2202169065ABCA3c.198T= (p.Pro66=)
n.761T=
16g.2326131A>CCA493361844ABCA3c.198T>G (p.Pro66=)
n.761T>G
16g.2326131A>GCA493361845ABCA3c.198T>C (p.Pro66=)
n.761T>C
dbSNP
16g.2326131A>TCA493361847ABCA3c.198T>A (p.Pro66=)
n.761T>A
ClinVar
16g.2326132G>ACA394352341ABCA3c.197C>T (p.Pro66Leu)
n.760C>T
gnomAD v4
16g.2326132G>CCA394352343ABCA3c.197C>G (p.Pro66Arg)
n.760C>G
16g.2326132G>TCA394352345ABCA3c.197C>A (p.Pro66His)
n.760C>A
16g.2326133G>ACA394352349ABCA3c.196C>T (p.Pro66Ser)
n.759C>T
16g.2326133G>CCA394352352ABCA3c.196C>G (p.Pro66Ala)
n.759C>G
16g.2326133G>TCA394352347ABCA3c.196C>A (p.Pro66Thr)
n.759C>A
16g.2326134C>ACA493361855ABCA3c.195G>T (p.Leu65=)
n.758G>T
ClinVar gnomAD v4
16g.2326134C>GCA493361857ABCA3c.195G>C (p.Leu65=)
n.758G>C
16g.2326134C>TCA493361859ABCA3c.195G>A (p.Leu65=)
n.758G>A
16g.2326135A>CCA394352359ABCA3c.194T>G (p.Leu65Arg)
n.757T>G
16g.2326135A>GCA394352355ABCA3c.194T>C (p.Leu65Pro)
n.757T>C
16g.2326135A>TCA394352357ABCA3c.194T>A (p.Leu65Gln)
n.757T>A
16g.2326136G>ACA493361865ABCA3c.193C>T (p.Leu65=)
n.756C>T
16g.2326136G>CCA394352361ABCA3c.193C>G (p.Leu65Val)
n.756C>G
16g.2326136G>TCA394352365ABCA3c.193C>A (p.Leu65Met)
n.756C>A
16g.2326137C>ACA394352367ABCA3c.192G>T (p.Glu64Asp)
n.755G>T
16g.2326137C=CA2202169069ABCA3c.192G= (p.Glu64=)
n.755G=
16g.2326137C>GCA7841764ABCA3c.192G>C (p.Glu64Asp)
n.755G>C
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2326137C>TCA493361866ABCA3c.192G>A (p.Glu64=)
n.755G>A
gnomAD v4
16g.2326138T>ACA394352371ABCA3c.191A>T (p.Glu64Val)
n.754A>T
16g.2326138T>CCA394352373ABCA3c.191A>G (p.Glu64Gly)
n.754A>G
16g.2326138T>GCA10647184ABCA3c.191A>C (p.Glu64Ala)
n.754A>C
ClinVar dbSNP
16g.2326138T=CA2202169077ABCA3c.191A= (p.Glu64=)
n.754A=
16g.2326139C>ACA394352376ABCA3c.190G>T (p.Glu64Ter)
n.753G>T
16g.2326139C>GCA394352378ABCA3c.190G>C (p.Glu64Gln)
n.753G>C
16g.2326139C>TCA394352379ABCA3c.190G>A (p.Glu64Lys)
n.753G>A
ClinVar
16g.2326140C>ACA394352384ABCA3c.189G>T (p.Gln63His)
n.752G>T
16g.2326140C>GCA394352382ABCA3c.189G>C (p.Gln63His)
n.752G>C
16g.2326140C>TCA493361870ABCA3c.189G>A (p.Gln63=)
n.752G>A
16g.2326141T>ACA394352385ABCA3c.188A>T (p.Gln63Leu)
n.751A>T
16g.2326141T>CCA394352386ABCA3c.188A>G (p.Gln63Arg)
n.751A>G
16g.2326141T>GCA394352389ABCA3c.188A>C (p.Gln63Pro)
n.751A>C
dbSNP
16g.2326141T=CA2202169084ABCA3c.188A= (p.Gln63=)
n.751A=
16g.2326142G>ACA394352391ABCA3c.187C>T (p.Gln63Ter)
n.750C>T
16g.2326142G>CCA394352392ABCA3c.187C>G (p.Gln63Glu)
n.750C>G
16g.2326142G>TCA394352394ABCA3c.187C>A (p.Gln63Lys)
n.750C>A
16g.2326143G>ACA493361873ABCA3c.186C>T (p.Ile62=)
n.749C>T
16g.2326143G>CCA394352395ABCA3c.186C>G (p.Ile62Met)
n.749C>G
16g.2326143G>TCA493361874ABCA3c.186C>A (p.Ile62=)
n.749C>A
16g.2326144A=CA2202169086ABCA3c.185T= (p.Ile62=)
n.748T=
16g.2326144A>CCA394352397ABCA3c.185T>G (p.Ile62Ser)
n.748T>G
16g.2326144A>GCA394352399ABCA3c.185T>C (p.Ile62Thr)
n.748T>C
dbSNP gnomAD v2 gnomAD v4
16g.2326144A>TCA394352401ABCA3c.185T>A (p.Ile62Asn)
n.748T>A
16g.2326145T>ACA394352403ABCA3c.184A>T (p.Ile62Phe)
n.747A>T
16g.2326145T>CCA394352405ABCA3c.184A>G (p.Ile62Val)
n.747A>G
gnomAD v4
16g.2326145T>GCA394352408ABCA3c.184A>C (p.Ile62Leu)
n.747A>C
16g.2326146G>ACA493361876ABCA3c.183C>T (p.Ser61=)
n.746C>T
16g.2326146G>CCA493361878ABCA3c.183C>G (p.Ser61=)
n.746C>G
16g.2326146G>TCA493361880ABCA3c.183C>A (p.Ser61=)
n.746C>A
16g.2326147G>ACA394352411ABCA3c.182C>T (p.Ser61Phe)
n.745C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2326147G>CCA394352413ABCA3c.182C>G (p.Ser61Cys)
n.745C>G
ClinVar gnomAD v4
16g.2326147G=CA2202169090ABCA3c.182C= (p.Ser61=)
n.745C=
16g.2326147G>TCA394352409ABCA3c.182C>A (p.Ser61Tyr)
n.745C>A
16g.2326148A=CA2202169093ABCA3c.181T= (p.Ser61=)
n.744T=
16g.2326148A>CCA394352414ABCA3c.181T>G (p.Ser61Ala)
n.744T>G
16g.2326148A>GCA394352416ABCA3c.181T>C (p.Ser61Pro)
n.744T>C
16g.2326148A>TCA394352418ABCA3c.181T>A (p.Ser61Thr)
n.744T>A
dbSNP gnomAD v4
16g.2326149C>ACA394352421ABCA3c.180G>T (p.Gln60His)
n.743G>T
16g.2326149C>GCA394352423ABCA3c.180G>C (p.Gln60His)
n.743G>C
gnomAD v4
16g.2326149C>TCA493361883ABCA3c.180G>A (p.Gln60=)
n.743G>A
ClinVar gnomAD v4
16g.2326150T>ACA394352432ABCA3c.179A>T (p.Gln60Leu)
n.742A>T
16g.2326150T>CCA394352430ABCA3c.179A>G (p.Gln60Arg)
n.742A>G
16g.2326150T>GCA394352427ABCA3c.179A>C (p.Gln60Pro)
n.742A>C
16g.2326151G>ACA394352435ABCA3c.178C>T (p.Gln60Ter)
n.741C>T
16g.2326151G>CCA394352436ABCA3c.178C>G (p.Gln60Glu)
n.741C>G
gnomAD v4
16g.2326151G>TCA394352439ABCA3c.178C>A (p.Gln60Lys)
n.741C>A
16g.2326152G>ACA493361885ABCA3c.177C>T (p.Gly59=)
n.740C>T
16g.2326152G>CCA493361886ABCA3c.177C>G (p.Gly59=)
n.740C>G
ClinVar
16g.2326152G>TCA493361887ABCA3c.177C>A (p.Gly59=)
n.740C>A
16g.2326153C>ACA394352441ABCA3c.176G>T (p.Gly59Val)
n.739G>T
16g.2326153C>GCA394352443ABCA3c.176G>C (p.Gly59Ala)
n.739G>C
16g.2326153C>TCA394352445ABCA3c.176G>A (p.Gly59Asp)
n.739G>A
16g.2326154C>ACA394352446ABCA3c.175G>T (p.Gly59Cys)
n.738G>T
16g.2326154C>GCA394352450ABCA3c.175G>C (p.Gly59Arg)
n.738G>C
16g.2326154C>TCA394352447ABCA3c.175G>A (p.Gly59Ser)
n.738G>A
16g.2326155C>ACA7841765ABCA3c.174G>T (p.Pro58=)
n.737G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2326155C=CA2202169096ABCA3c.174G= (p.Pro58=)
n.737G=
16g.2326155C>GCA493361890ABCA3c.174G>C (p.Pro58=)
n.737G>C
gnomAD v4
16g.2326155C>TCA7841766ABCA3c.174G>A (p.Pro58=)
n.737G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2326156G>ACA7841767ABCA3c.173C>T (p.Pro58Leu)
n.736C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2326156G>CCA394352458ABCA3c.173C>G (p.Pro58Arg)
n.736C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2326156G=CA2202169099ABCA3c.173C= (p.Pro58=)
n.736C=
16g.2326156G>TCA394352460ABCA3c.173C>A (p.Pro58Gln)
n.736C>A
gnomAD v4
16g.2326157G>ACA394352463ABCA3c.172C>T (p.Pro58Ser)
n.735C>T
16g.2326157G>CCA394352465ABCA3c.172C>G (p.Pro58Ala)
n.735C>G
16g.2326157G>TCA394352466ABCA3c.172C>A (p.Pro58Thr)
n.735C>A
16g.2326158G>ACA493361892ABCA3c.171C>T (p.Tyr57=)
n.734C>T
gnomAD v4
16g.2326158G>CCA394352468ABCA3c.171C>G (p.Tyr57Ter)
n.734C>G
16g.2326158G>TCA394352470ABCA3c.171C>A (p.Tyr57Ter)
n.734C>A
16g.2326159T>ACA394352473ABCA3c.170A>T (p.Tyr57Phe)
n.733A>T
16g.2326159T>CCA394352475ABCA3c.170A>G (p.Tyr57Cys)
n.733A>G
dbSNP
16g.2326159T>GCA394352477ABCA3c.170A>C (p.Tyr57Ser)
n.733A>C
dbSNP
16g.2326159T=CA2202169101ABCA3c.170A= (p.Tyr57=)
n.733A=
16g.2326160A>CCA394352481ABCA3c.169T>G (p.Tyr57Asp)
n.732T>G
16g.2326160A>GCA394352484ABCA3c.169T>C (p.Tyr57His)
n.732T>C
16g.2326160A>TCA394352480ABCA3c.169T>A (p.Tyr57Asn)
n.732T>A
16g.2326160_2326162delCA2631191207ABCA3c.167_169del (p.Ile56_Tyr57delinsAsn)
n.730_732del
gnomAD v4
16g.2326161G>ACA7841768ABCA3c.168C>T (p.Ile56=)
n.731C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2326161G>CCA394352487ABCA3c.168C>G (p.Ile56Met)
n.731C>G
16g.2326161G=CA2202169105ABCA3c.168C= (p.Ile56=)
n.731C=
16g.2326161G>TCA493361894ABCA3c.168C>A (p.Ile56=)
n.731C>A
16g.2326162A=CA2202169108ABCA3c.167T= (p.Ile56=)
n.730T=
16g.2326162A>CCA394352494ABCA3c.167T>G (p.Ile56Ser)
n.730T>G
dbSNP gnomAD v4
16g.2326162A>GCA394352492ABCA3c.167T>C (p.Ile56Thr)
n.730T>C
16g.2326162A>TCA394352495ABCA3c.167T>A (p.Ile56Asn)
n.730T>A
16g.2326163T>ACA394352498ABCA3c.166A>T (p.Ile56Phe)
n.729A>T
16g.2326163T>CCA7841769ABCA3c.166A>G (p.Ile56Val)
n.729A>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2326163T>GCA394352502ABCA3c.166A>C (p.Ile56Leu)
n.729A>C
16g.2326163T=CA2202169112ABCA3c.166A= (p.Ile56=)
n.729A=
16g.2326164G>ACA493361897ABCA3c.165C>T (p.Thr55=)
n.728C>T
dbSNP gnomAD v4
16g.2326164G>CCA493361898ABCA3c.165C>G (p.Thr55=)
n.728C>G
16g.2326164G=CA2202169115ABCA3c.165C= (p.Thr55=)
n.728C=
16g.2326164G>TCA493361899ABCA3c.165C>A (p.Thr55=)
n.728C>A
16g.2326165G>ACA394352504ABCA3c.164C>T (p.Thr55Ile)
n.727C>T
gnomAD v4
16g.2326165G>CCA394352505ABCA3c.164C>G (p.Thr55Ser)
n.727C>G
16g.2326165G>TCA394352507ABCA3c.164C>A (p.Thr55Asn)
n.727C>A
16g.2326166T>ACA394352510ABCA3c.163A>T (p.Thr55Ser)
n.726A>T
16g.2326166T>CCA394352511ABCA3c.163A>G (p.Thr55Ala)
n.726A>G
gnomAD v4
16g.2326166T>GCA394352512ABCA3c.163A>C (p.Thr55Pro)
n.726A>C
dbSNP
16g.2326166T=CA2202169118ABCA3c.163A= (p.Thr55=)
n.726A=
16g.2326167G>ACA493361901ABCA3c.162C>T (p.Ala54=)
n.725C>T
dbSNP gnomAD v4 COSMIC
16g.2326167G>CCA493361902ABCA3c.162C>G (p.Ala54=)
n.725C>G
16g.2326167G=CA2202169123ABCA3c.162C= (p.Ala54=)
n.725C=
16g.2326167G>TCA493361903ABCA3c.162C>A (p.Ala54=)
n.725C>A
16g.2326168G>ACA7841770ABCA3c.161C>T (p.Ala54Val)
n.724C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2326168G>CCA394352516ABCA3c.161C>G (p.Ala54Gly)
n.724C>G
16g.2326168G=CA2202169126ABCA3c.161C= (p.Ala54=)
n.724C=
16g.2326168G>TCA394352518ABCA3c.161C>A (p.Ala54Asp)
n.724C>A
16g.2326169C>ACA394352521ABCA3c.160G>T (p.Ala54Ser)
n.723G>T
16g.2326169C=CA2202169132ABCA3c.160G= (p.Ala54=)
n.723G=
16g.2326169C>GCA394352523ABCA3c.160G>C (p.Ala54Pro)
n.723G>C
ClinVar
16g.2326169C>TCA7841771ABCA3c.160G>A (p.Ala54Thr)
n.723G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2326170G>ACA7841772ABCA3c.159C>T (p.Asn53=)
n.722C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2326170G>CCA394352530ABCA3c.159C>G (p.Asn53Lys)
n.722C>G
COSMIC
16g.2326170G=CA2202169137ABCA3c.159C= (p.Asn53=)
n.722C=
16g.2326170G>TCA394352529ABCA3c.159C>A (p.Asn53Lys)
n.722C>A
16g.2326171T>ACA394352533ABCA3c.158A>T (p.Asn53Ile)
n.721A>T
16g.2326171T>CCA276853835ABCA3c.158A>G (p.Asn53Ser)
n.721A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2326171T>GCA394352534ABCA3c.158A>C (p.Asn53Thr)
n.721A>C
gnomAD v4
16g.2326171T=CA2202169140ABCA3c.158A= (p.Asn53=)
n.721A=
16g.2326172T>ACA394352536ABCA3c.157A>T (p.Asn53Tyr)
n.720A>T
16g.2326172T>CCA394352539ABCA3c.157A>G (p.Asn53Asp)
n.720A>G
16g.2326172T>GCA394352543ABCA3c.157A>C (p.Asn53His)
n.720A>C
16g.2326173G>ACA493361904ABCA3c.156C>T (p.Pro52=)
n.719C>T
gnomAD v4
16g.2326173G>CCA493361905ABCA3c.156C>G (p.Pro52=)
n.719C>G
16g.2326173G>TCA493361906ABCA3c.156C>A (p.Pro52=)
n.719C>A
gnomAD v4
16g.2326174G>ACA7841773ABCA3c.155C>T (p.Pro52Leu)
n.718C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2326174G>CCA394352546ABCA3c.155C>G (p.Pro52Arg)
n.718C>G
dbSNP
16g.2326174G=CA2202169143ABCA3c.155C= (p.Pro52=)
n.718C=
16g.2326174G>TCA394352548ABCA3c.155C>A (p.Pro52His)
n.718C>A
16g.2326175G>ACA394352556ABCA3c.154C>T (p.Pro52Ser)
n.717C>T
16g.2326175G>CCA394352554ABCA3c.154C>G (p.Pro52Ala)
n.717C>G
16g.2326175G=CA2202169148ABCA3c.154C= (p.Pro52=)
n.717C=
16g.2326175G>TCA394352551ABCA3c.154C>A (p.Pro52Thr)
n.717C>A
dbSNP
16g.2326176C>ACA7841774ABCA3c.153G>T (p.Val51=)
n.716G>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2326176C=CA2202169150ABCA3c.153G= (p.Val51=)
n.716G=
16g.2326176C>GCA493361907ABCA3c.153G>C (p.Val51=)
n.716G>C
16g.2326176C>TCA493361908ABCA3c.153G>A (p.Val51=)
n.716G>A
ClinVar
16g.2326177A>CCA394352560ABCA3c.152T>G (p.Val51Gly)
n.715T>G
16g.2326177A>GCA394352563ABCA3c.152T>C (p.Val51Ala)
n.715T>C
16g.2326177A>TCA394352568ABCA3c.152T>A (p.Val51Glu)
n.715T>A
16g.2326178C>ACA394352570ABCA3c.151G>T (p.Val51Leu)
n.714G>T
16g.2326178C>GCA394352572ABCA3c.151G>C (p.Val51Leu)
n.714G>C
16g.2326178C>TCA394352575ABCA3c.151G>A (p.Val51Met)
n.714G>A
gnomAD v4
16g.2326179A>CCA394352577ABCA3c.150T>G (p.Asn50Lys)
n.713T>G
16g.2326179A>GCA493361909ABCA3c.150T>C (p.Asn50=)
n.713T>C
16g.2326179A>TCA394352580ABCA3c.150T>A (p.Asn50Lys)
n.713T>A
16g.2326180T>ACA394352585ABCA3c.149A>T (p.Asn50Ile)
n.712A>T
16g.2326180T>CCA276853844ABCA3c.149A>G (p.Asn50Ser)
n.712A>G
dbSNP gnomAD v2 gnomAD v4
16g.2326180T>GCA394352588ABCA3c.149A>C (p.Asn50Thr)
n.712A>C
16g.2326180T=CA2202169153ABCA3c.149A= (p.Asn50=)
n.712A=

Number of alleles fetched