Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.67165727C>ACA496072096HSF4n.524C>A
n.740C>A
c.241C>A (p.Arg81=)
c.115C>A (p.Arg39=)
c.413C>A
c.132C>A (p.Phe44Leu)
n.308C>A
n.460C>A
c.1206C>A
16g.67165727C>GCA396263523HSF4n.524C>G
n.740C>G
c.241C>G (p.Arg81Gly)
c.115C>G (p.Arg39Gly)
c.413C>G
c.132C>G (p.Phe44Leu)
n.308C>G
n.460C>G
c.1206C>G
 gnomAD v4
16g.67165727C>TCA396263525HSF4n.524C>T
n.740C>T
c.241C>T (p.Arg81Trp)
c.115C>T (p.Arg39Trp)
c.413C>T
c.132C>T (p.Phe44=)
n.308C>T
n.460C>T
c.1206C>T
16g.67165728G>ACA396263529HSF4n.525G>A
n.741G>A
c.242G>A (p.Arg81Gln)
c.116G>A (p.Arg39Gln)
c.414G>A
c.133G>A (p.Gly45Arg)
n.309G>A
n.461G>A
c.1207G>A
16g.67165728G>CCA396263532HSF4n.525G>C
n.741G>C
c.242G>C (p.Arg81Pro)
c.116G>C (p.Arg39Pro)
c.414G>C
c.133G>C (p.Gly45Arg)
n.309G>C
n.461G>C
c.1207G>C
16g.67165728G>TCA396263533HSF4n.525G>T
n.741G>T
c.242G>T (p.Arg81Leu)
c.116G>T (p.Arg39Leu)
c.414G>T
c.133G>T (p.Gly45Ter)
n.309G>T
n.461G>T
c.1207G>T
16g.67165729G>ACA496072097HSF4n.526G>A
n.742G>A
c.243G>A (p.Arg81=)
c.117G>A (p.Arg39=)
c.415G>A
c.134G>A (p.Gly45Glu)
n.310G>A
n.462G>A
c.1208G>A
16g.67165729G>CCA496072098HSF4n.526G>C
n.742G>C
c.243G>C (p.Arg81=)
c.117G>C (p.Arg39=)
c.415G>C
c.134G>C (p.Gly45Ala)
n.310G>C
n.462G>C
c.1208G>C
16g.67165729G>TCA496072099HSF4n.526G>T
n.742G>T
c.243G>T (p.Arg81=)
c.117G>T (p.Arg39=)
c.415G>T
c.134G>T (p.Gly45Val)
n.310G>T
n.462G>T
c.1208G>T
16g.67165730A>CCA396263539HSF4n.527A>C
n.743A>C
c.244A>C (p.Lys82Gln)
c.118A>C (p.Lys40Gln)
c.416A>C
c.135A>C (p.Gly45=)
n.311A>C
n.463A>C
c.1209A>C
16g.67165730A>GCA396263537HSF4n.527A>G
n.743A>G
c.244A>G (p.Lys82Glu)
c.118A>G (p.Lys40Glu)
c.416A>G
c.135A>G (p.Gly45=)
n.311A>G
n.463A>G
c.1209A>G
16g.67165730A>TCA396263538HSF4n.527A>T
n.743A>T
c.244A>T (p.Lys82Ter)
c.118A>T (p.Lys40Ter)
c.416A>T
c.135A>T (p.Gly45=)
n.311A>T
n.463A>T
c.1209A>T
16g.67165731A>CCA396263544HSF4n.528A>C
n.744A>C
c.245A>C (p.Lys82Thr)
c.119A>C (p.Lys40Thr)
c.417A>C
c.136A>C (p.Arg46=)
n.312A>C
n.464A>C
c.1210A>C
16g.67165731A>GCA396263546HSF4n.528A>G
n.744A>G
c.245A>G (p.Lys82Arg)
c.119A>G (p.Lys40Arg)
c.417A>G
c.136A>G (p.Arg46Gly)
n.312A>G
n.464A>G
c.1210A>G
16g.67165731A>TCA396263549HSF4n.528A>T
n.744A>T
c.245A>T (p.Lys82Met)
c.119A>T (p.Lys40Met)
c.417A>T
c.136A>T (p.Arg46Trp)
n.312A>T
n.464A>T
c.1210A>T
16g.67165732G>ACA496072100HSF4n.529G>A
n.745G>A
c.246G>A (p.Lys82=)
c.120G>A (p.Lys40=)
c.418G>A
c.137G>A (p.Arg46Lys)
n.313G>A
n.465G>A
c.1211G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67165732G>CCA396263551HSF4n.529G>C
n.745G>C
c.246G>C (p.Lys82Asn)
c.120G>C (p.Lys40Asn)
c.418G>C
c.137G>C (p.Arg46Thr)
n.313G>C
n.465G>C
c.1211G>C
16g.67165732G=CA2229208893HSF4n.529G=
n.745G=
c.246G= (p.Lys82=)
c.120G= (p.Lys40=)
c.418G=
c.137G= (p.Arg46=)
n.313G=
n.465G=
c.1211G=
16g.67165732G>TCA396263553HSF4n.529G>T
n.745G>T
c.246G>T (p.Lys82Asn)
c.120G>T (p.Lys40Asn)
c.418G>T
c.137G>T (p.Arg46Met)
n.313G>T
n.465G>T
c.1211G>T
16g.67165733G>ACA396263556HSF4n.530G>A
n.746G>A
c.247G>A (p.Val83Met)
c.121G>A (p.Val41Met)
c.419G>A
c.138G>A (p.Arg46=)
n.314G>A
n.466G>A
c.1212G>A
16g.67165733G>CCA396263568HSF4n.530G>C
n.746G>C
c.247G>C (p.Val83Leu)
c.121G>C (p.Val41Leu)
c.419G>C
c.138G>C (p.Arg46Ser)
n.314G>C
n.466G>C
c.1212G>C
16g.67165733G>TCA396263566HSF4n.530G>T
n.746G>T
c.247G>T (p.Val83Leu)
c.121G>T (p.Val41Leu)
c.419G>T
c.138G>T (p.Arg46Ser)
n.314G>T
n.466G>T
c.1212G>T
16g.67165734T>ACA396263573HSF4n.531T>A
n.747T>A
c.248T>A (p.Val83Glu)
c.122T>A (p.Val41Glu)
c.420T>A
c.139T>A (p.Trp47Arg)
n.315T>A
n.467T>A
c.1213T>A
16g.67165734T>CCA396263581HSF4n.531T>C
n.747T>C
c.248T>C (p.Val83Ala)
c.122T>C (p.Val41Ala)
c.420T>C
c.139T>C (p.Trp47Arg)
n.315T>C
n.467T>C
c.1213T>C
 gnomAD v4
16g.67165734T>GCA396263584HSF4n.531T>G
n.747T>G
c.248T>G (p.Val83Gly)
c.122T>G (p.Val41Gly)
c.420T>G
c.139T>G (p.Trp47Gly)
n.315T>G
n.467T>G
c.1213T>G
16g.67165735G>ACA496072103HSF4n.532G>A
n.748G>A
c.249G>A (p.Val83=)
c.123G>A (p.Val41=)
c.421G>A
c.140G>A (p.Trp47Ter)
n.316G>A
n.468G>A
c.1214G>A
 gnomAD v4
16g.67165735G>CCA496072101HSF4n.532G>C
n.748G>C
c.249G>C (p.Val83=)
c.123G>C (p.Val41=)
c.421G>C
c.140G>C (p.Trp47Ser)
n.316G>C
n.468G>C
c.1214G>C
16g.67165735G>TCA496072102HSF4n.532G>T
n.748G>T
c.249G>T (p.Val83=)
c.123G>T (p.Val41=)
c.421G>T
c.140G>T (p.Trp47Leu)
n.316G>T
n.468G>T
c.1214G>T
16g.67165736dupCA2633719694HSF4n.533dup
n.749dup
c.250dup (p.Val84GlyfsTer10)
c.124dup (p.Val42GlyfsTer10)
c.422dup
c.141dup (p.Ter48ValextTer?)
n.317dup
n.469dup
c.1215dup
 gnomAD v4
16g.67165736G>ACA396263586HSF4n.533G>A
n.749G>A
c.250G>A (p.Val84Met)
c.124G>A (p.Val42Met)
c.422G>A
c.141G>A (p.Trp47Ter)
n.317G>A
n.469G>A
c.1215G>A
16g.67165736G>CCA8101767HSF4n.533G>C
n.749G>C
c.250G>C (p.Val84Leu)
c.124G>C (p.Val42Leu)
c.422G>C
c.141G>C (p.Trp47Cys)
n.317G>C
n.469G>C
c.1215G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67165736G=CA2229208895HSF4n.533G=
n.749G=
c.250G= (p.Val84=)
c.124G= (p.Val42=)
c.422G=
c.141G= (p.Trp47=)
n.317G=
n.469G=
c.1215G=
16g.67165736G>TCA396263589HSF4n.533G>T
n.749G>T
c.250G>T (p.Val84Leu)
c.124G>T (p.Val42Leu)
c.422G>T
c.141G>T (p.Trp47Cys)
n.317G>T
n.469G>T
c.1215G>T
16g.67165737_67165740delCA2576024729HSF4n.534_537del
n.750_753del
c.251_254del (p.Val84AlafsTer?)
c.125_128del (p.Val42AlafsTer?)
c.423_426del
c.142_*1del (n.[c.142_*1del;Ter48HisextTer8])
n.318_321del
n.470_473del
c.1216_1219del
16g.67165737T>ACA396263590HSF4n.534T>A
n.750T>A
c.251T>A (p.Val84Glu)
c.125T>A (p.Val42Glu)
c.423T>A
c.142T>A (p.Ter48Arg)
n.318T>A
n.470T>A
c.1216T>A
16g.67165737T>CCA396263593HSF4n.534T>C
n.750T>C
c.251T>C (p.Val84Ala)
c.125T>C (p.Val42Ala)
c.423T>C
c.142T>C (p.Ter48Arg)
n.318T>C
n.470T>C
c.1216T>C
16g.67165737T>GCA396263595HSF4n.534T>G
n.750T>G
c.251T>G (p.Val84Gly)
c.125T>G (p.Val42Gly)
c.423T>G
c.142T>G (p.Ter48Gly)
n.318T>G
n.470T>G
c.1216T>G
16g.67165738G>ACA496072104HSF4n.535G>A
n.751G>A
c.252G>A (p.Val84=)
c.126G>A (p.Val42=)
c.424G>A
c.143G>A (p.Ter48=)
n.319G>A
n.471G>A
c.1217G>A
16g.67165738G>CCA496072105HSF4n.535G>C
n.751G>C
c.252G>C (p.Val84=)
c.126G>C (p.Val42=)
c.424G>C
c.143G>C (p.Ter48Ser)
n.319G>C
n.471G>C
c.1217G>C
16g.67165738G>TCA496072106HSF4n.535G>T
n.751G>T
c.252G>T (p.Val84=)
c.126G>T (p.Val42=)
c.424G>T
c.143G>T (p.Ter48Leu)
n.319G>T
n.471G>T
c.1217G>T
16g.67165739A>CCA396263598HSF4n.536A>C
n.752A>C
c.253A>C (p.Ser85Arg)
c.127A>C (p.Ser43Arg)
c.425A>C
c.144A>C (p.Ter48Cys)
n.320A>C
n.472A>C
c.1218A>C
16g.67165739A>GCA396263600HSF4n.536A>G
n.752A>G
c.253A>G (p.Ser85Gly)
c.127A>G (p.Ser43Gly)
c.425A>G
c.144A>G (p.Ter48Trp)
n.320A>G
n.472A>G
c.1218A>G
16g.67165739A>TCA396263602HSF4n.536A>T
n.752A>T
c.253A>T (p.Ser85Cys)
c.127A>T (p.Ser43Cys)
c.425A>T
c.144A>T (p.Ter48Cys)
n.320A>T
n.472A>T
c.1218A>T
16g.67165740G>ACA396263610HSF4n.537G>A
n.753G>A
c.254G>A (p.Ser85Asn)
c.128G>A (p.Ser43Asn)
c.426G>A
c.*1G>A (n.*1G>A)
n.321G>A
n.473G>A
c.1219G>A
 gnomAD v4
16g.67165740G>CCA396263608HSF4n.537G>C
n.753G>C
c.254G>C (p.Ser85Thr)
c.128G>C (p.Ser43Thr)
c.426G>C
c.*1G>C (n.*1G>C)
n.321G>C
n.473G>C
c.1219G>C
16g.67165740G>TCA396263605HSF4n.537G>T
n.753G>T
c.254G>T (p.Ser85Ile)
c.128G>T (p.Ser43Ile)
c.426G>T
c.*1G>T (n.*1G>T)
n.321G>T
n.473G>T
c.1219G>T
16g.67165741C>ACA396263616HSF4n.538C>A
n.754C>A
c.255C>A (p.Ser85Arg)
c.129C>A (p.Ser43Arg)
c.427C>A
c.*2C>A (n.*2C>A)
n.322C>A
n.474C>A
c.1220C>A
16g.67165741C=CA2229208898HSF4n.538C=
n.754C=
c.255C= (p.Ser85=)
c.129C= (p.Ser43=)
c.427C=
c.*2C= (n.*2C=)
n.322C=
n.474C=
c.1220C=
16g.67165741C>GCA396263620HSF4n.538C>G
n.754C>G
c.255C>G (p.Ser85Arg)
c.129C>G (p.Ser43Arg)
c.427C>G
c.*2C>G (n.*2C>G)
n.322C>G
n.474C>G
c.1220C>G
16g.67165741C>TCA496072107HSF4n.538C>T
n.754C>T
c.255C>T (p.Ser85=)
c.129C>T (p.Ser43=)
c.427C>T
c.*2C>T (n.*2C>T)
n.322C>T
n.474C>T
c.1220C>T
 dbSNP

Number of alleles fetched