Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.113391557C>ACA374565034ALADc.231G>T (p.Leu77Phe)
c.258G>T (p.Leu86Phe)
n.258-624G>T
n.353G>T
n.504G>T
c.318G>T (p.Leu106Phe)
c.357G>T (p.Leu119Phe)
c.207G>T (p.Leu69Phe)
n.731G>T
dbSNP
9g.113391557C=CA1873366741ALADc.231G= (p.Leu77=)
c.258G= (p.Leu86=)
n.258-624G=
n.353G=
n.504G=
c.318G= (p.Leu106=)
c.357G= (p.Leu119=)
c.207G= (p.Leu69=)
n.731G=
9g.113391557C>GCA374565036ALADc.231G>C (p.Leu77Phe)
c.258G>C (p.Leu86Phe)
n.258-624G>C
n.353G>C
n.504G>C
c.318G>C (p.Leu106Phe)
c.357G>C (p.Leu119Phe)
c.207G>C (p.Leu69Phe)
n.731G>C
9g.113391557C>TCA466758213ALADc.231G>A (p.Leu77=)
c.258G>A (p.Leu86=)
n.258-624G>A
n.353G>A
n.504G>A
c.318G>A (p.Leu106=)
c.357G>A (p.Leu119=)
c.207G>A (p.Leu69=)
n.731G>A
9g.113391558A>CCA374565038ALADc.230T>G (p.Leu77Trp)
c.257T>G (p.Leu86Trp)
n.258-625T>G
n.352T>G
n.503T>G
c.317T>G (p.Leu106Trp)
c.356T>G (p.Leu119Trp)
c.206T>G (p.Leu69Trp)
n.730T>G
9g.113391558A>GCA374565040ALADc.230T>C (p.Leu77Ser)
c.257T>C (p.Leu86Ser)
n.258-625T>C
n.352T>C
n.503T>C
c.317T>C (p.Leu106Ser)
c.356T>C (p.Leu119Ser)
c.206T>C (p.Leu69Ser)
n.730T>C
9g.113391558A>TCA374565042ALADc.230T>A (p.Leu77Ter)
c.257T>A (p.Leu86Ter)
n.258-625T>A
n.352T>A
n.503T>A
c.317T>A (p.Leu106Ter)
c.356T>A (p.Leu119Ter)
c.206T>A (p.Leu69Ter)
n.730T>A
9g.113391559A=CA1873366742ALADc.229T= (p.Leu77=)
c.256T= (p.Leu86=)
n.258-626T=
n.351T=
n.502T=
c.316T= (p.Leu106=)
c.355T= (p.Leu119=)
c.205T= (p.Leu69=)
n.729T=
9g.113391559A>CCA374565044ALADc.229T>G (p.Leu77Val)
c.256T>G (p.Leu86Val)
n.258-626T>G
n.351T>G
n.502T>G
c.316T>G (p.Leu106Val)
c.355T>G (p.Leu119Val)
c.205T>G (p.Leu69Val)
n.729T>G
9g.113391559A>GCA5196570ALADc.229T>C (p.Leu77=)
c.256T>C (p.Leu86=)
n.258-626T>C
n.351T>C
n.502T>C
c.316T>C (p.Leu106=)
c.355T>C (p.Leu119=)
c.205T>C (p.Leu69=)
n.729T>C
dbSNP ExAC gnomAD v2 gnomAD v4
9g.113391559A>TCA374565046ALADc.229T>A (p.Leu77Met)
c.256T>A (p.Leu86Met)
n.258-626T>A
n.351T>A
n.502T>A
c.316T>A (p.Leu106Met)
c.355T>A (p.Leu119Met)
c.205T>A (p.Leu69Met)
n.729T>A
9g.113391560G>ACA466758216ALADc.228C>T (p.Val76=)
c.255C>T (p.Val85=)
n.258-627C>T
n.350C>T
n.501C>T
c.315C>T (p.Val105=)
c.354C>T (p.Val118=)
c.204C>T (p.Val68=)
n.728C>T
9g.113391560G>CCA466758214ALADc.228C>G (p.Val76=)
c.255C>G (p.Val85=)
n.258-627C>G
n.350C>G
n.501C>G
c.315C>G (p.Val105=)
c.354C>G (p.Val118=)
c.204C>G (p.Val68=)
n.728C>G
9g.113391560G>TCA466758215ALADc.228C>A (p.Val76=)
c.255C>A (p.Val85=)
n.258-627C>A
n.350C>A
n.501C>A
c.315C>A (p.Val105=)
c.354C>A (p.Val118=)
c.204C>A (p.Val68=)
n.728C>A
9g.113391561A=CA1873366743ALADc.227T= (p.Val76=)
c.254T= (p.Val85=)
n.258-628T=
n.349T=
n.500T=
c.314T= (p.Val105=)
c.353T= (p.Val118=)
c.203T= (p.Val68=)
n.727T=
9g.113391561A>CCA374565049ALADc.227T>G (p.Val76Gly)
c.254T>G (p.Val85Gly)
n.258-628T>G
n.349T>G
n.500T>G
c.314T>G (p.Val105Gly)
c.353T>G (p.Val118Gly)
c.203T>G (p.Val68Gly)
n.727T>G
9g.113391561A>GCA374565052ALADc.227T>C (p.Val76Ala)
c.254T>C (p.Val85Ala)
n.258-628T>C
n.349T>C
n.500T>C
c.314T>C (p.Val105Ala)
c.353T>C (p.Val118Ala)
c.203T>C (p.Val68Ala)
n.727T>C
dbSNP gnomAD v2 gnomAD v4
9g.113391561A>TCA374565051ALADc.227T>A (p.Val76Asp)
c.254T>A (p.Val85Asp)
n.258-628T>A
n.349T>A
n.500T>A
c.314T>A (p.Val105Asp)
c.353T>A (p.Val118Asp)
c.203T>A (p.Val68Asp)
n.727T>A
9g.113391562C>ACA374565055ALADc.226G>T (p.Val76Phe)
c.253G>T (p.Val85Phe)
n.258-629G>T
n.348G>T
n.499G>T
c.313G>T (p.Val105Phe)
c.352G>T (p.Val118Phe)
c.202G>T (p.Val68Phe)
n.726G>T
9g.113391562C>GCA374565057ALADc.226G>C (p.Val76Leu)
c.253G>C (p.Val85Leu)
n.258-629G>C
n.348G>C
n.499G>C
c.313G>C (p.Val105Leu)
c.352G>C (p.Val118Leu)
c.202G>C (p.Val68Leu)
n.726G>C
gnomAD v4
9g.113391562C>TCA374565058ALADc.226G>A (p.Val76Ile)
c.253G>A (p.Val85Ile)
n.258-629G>A
n.348G>A
n.499G>A
c.313G>A (p.Val105Ile)
c.352G>A (p.Val118Ile)
c.202G>A (p.Val68Ile)
n.726G>A
gnomAD v4
9g.113391563A>CCA374565060ALADc.225T>G (p.Cys75Trp)
c.252T>G (p.Cys84Trp)
n.258-630T>G
n.347T>G
n.498T>G
c.312T>G (p.Cys104Trp)
c.351T>G (p.Cys117Trp)
c.201T>G (p.Cys67Trp)
n.725T>G
9g.113391563A>GCA466758217ALADc.225T>C (p.Cys75=)
c.252T>C (p.Cys84=)
n.258-630T>C
n.347T>C
n.498T>C
c.312T>C (p.Cys104=)
c.351T>C (p.Cys117=)
c.201T>C (p.Cys67=)
n.725T>C
9g.113391563A>TCA374565062ALADc.225T>A (p.Cys75Ter)
c.252T>A (p.Cys84Ter)
n.258-630T>A
n.347T>A
n.498T>A
c.312T>A (p.Cys104Ter)
c.351T>A (p.Cys117Ter)
c.201T>A (p.Cys67Ter)
n.725T>A
gnomAD v4
9g.113391564C>ACA374565064ALADc.224G>T (p.Cys75Phe)
c.251G>T (p.Cys84Phe)
n.258-631G>T
n.346G>T
n.497G>T
c.311G>T (p.Cys104Phe)
c.350G>T (p.Cys117Phe)
c.200G>T (p.Cys67Phe)
n.724G>T
9g.113391564C>GCA374565066ALADc.224G>C (p.Cys75Ser)
c.251G>C (p.Cys84Ser)
n.258-631G>C
n.346G>C
n.497G>C
c.311G>C (p.Cys104Ser)
c.350G>C (p.Cys117Ser)
c.200G>C (p.Cys67Ser)
n.724G>C
9g.113391564C>TCA374565067ALADc.224G>A (p.Cys75Tyr)
c.251G>A (p.Cys84Tyr)
n.258-631G>A
n.346G>A
n.497G>A
c.311G>A (p.Cys104Tyr)
c.350G>A (p.Cys117Tyr)
c.200G>A (p.Cys67Tyr)
n.724G>A
9g.113391565A=CA1873366744ALADc.223T= (p.Cys75=)
c.250T= (p.Cys84=)
n.258-632T=
n.345T=
n.496T=
c.310T= (p.Cys104=)
c.349T= (p.Cys117=)
c.199T= (p.Cys67=)
n.723T=
9g.113391565A>CCA374565078ALADc.223T>G (p.Cys75Gly)
c.250T>G (p.Cys84Gly)
n.258-632T>G
n.345T>G
n.496T>G
c.310T>G (p.Cys104Gly)
c.349T>G (p.Cys117Gly)
c.199T>G (p.Cys67Gly)
n.723T>G
9g.113391565A>GCA374565080ALADc.223T>C (p.Cys75Arg)
c.250T>C (p.Cys84Arg)
n.258-632T>C
n.345T>C
n.496T>C
c.310T>C (p.Cys104Arg)
c.349T>C (p.Cys117Arg)
c.199T>C (p.Cys67Arg)
n.723T>C
dbSNP gnomAD v3 gnomAD v4
9g.113391565A>TCA374565082ALADc.223T>A (p.Cys75Ser)
c.250T>A (p.Cys84Ser)
n.258-632T>A
n.345T>A
n.496T>A
c.310T>A (p.Cys104Ser)
c.349T>A (p.Cys117Ser)
c.199T>A (p.Cys67Ser)
n.723T>A
9g.113391566G>ACA466758218ALADc.222C>T (p.Arg74=)
c.249C>T (p.Arg83=)
n.258-633C>T
n.344C>T
n.495C>T
c.309C>T (p.Arg103=)
c.348C>T (p.Arg116=)
c.198C>T (p.Arg66=)
n.722C>T
9g.113391566G>CCA466758219ALADc.222C>G (p.Arg74=)
c.249C>G (p.Arg83=)
n.258-633C>G
n.344C>G
n.495C>G
c.309C>G (p.Arg103=)
c.348C>G (p.Arg116=)
c.198C>G (p.Arg66=)
n.722C>G
9g.113391566G>TCA466758220ALADc.222C>A (p.Arg74=)
c.249C>A (p.Arg83=)
n.258-633C>A
n.344C>A
n.495C>A
c.309C>A (p.Arg103=)
c.348C>A (p.Arg116=)
c.198C>A (p.Arg66=)
n.722C>A
9g.113391567C>ACA374565084ALADc.221G>T (p.Arg74Leu)
c.248G>T (p.Arg83Leu)
n.258-634G>T
n.343G>T
n.494G>T
c.308G>T (p.Arg103Leu)
c.347G>T (p.Arg116Leu)
c.197G>T (p.Arg66Leu)
n.721G>T
9g.113391567C=CA1873366745ALADc.221G= (p.Arg74=)
c.248G= (p.Arg83=)
n.258-634G=
n.343G=
n.494G=
c.308G= (p.Arg103=)
c.347G= (p.Arg116=)
c.197G= (p.Arg66=)
n.721G=
9g.113391567C>GCA374565083ALADc.221G>C (p.Arg74Pro)
c.248G>C (p.Arg83Pro)
n.258-634G>C
n.343G>C
n.494G>C
c.308G>C (p.Arg103Pro)
c.347G>C (p.Arg116Pro)
c.197G>C (p.Arg66Pro)
n.721G>C
9g.113391567C>TCA5196571ALADc.221G>A (p.Arg74His)
c.248G>A (p.Arg83His)
n.258-634G>A
n.343G>A
n.494G>A
c.308G>A (p.Arg103His)
c.347G>A (p.Arg116His)
c.197G>A (p.Arg66His)
n.721G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.113391568G>ACA5196572ALADc.220C>T (p.Arg74Cys)
c.247C>T (p.Arg83Cys)
n.258-635C>T
n.342C>T
n.493C>T
c.307C>T (p.Arg103Cys)
c.346C>T (p.Arg116Cys)
c.196C>T (p.Arg66Cys)
n.720C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.113391568G>CCA374565086ALADc.220C>G (p.Arg74Gly)
c.247C>G (p.Arg83Gly)
n.258-635C>G
n.342C>G
n.493C>G
c.307C>G (p.Arg103Gly)
c.346C>G (p.Arg116Gly)
c.196C>G (p.Arg66Gly)
n.720C>G
9g.113391568G=CA1873366746ALADc.220C= (p.Arg74=)
c.247C= (p.Arg83=)
n.258-635C=
n.342C=
n.493C=
c.307C= (p.Arg103=)
c.346C= (p.Arg116=)
c.196C= (p.Arg66=)
n.720C=
9g.113391568G>TCA374565087ALADc.220C>A (p.Arg74Ser)
c.247C>A (p.Arg83Ser)
n.258-635C>A
n.342C>A
n.493C>A
c.307C>A (p.Arg103Ser)
c.346C>A (p.Arg116Ser)
c.196C>A (p.Arg66Ser)
n.720C>A
9g.113391569T>ACA466758221ALADc.219A>T (p.Leu73=)
c.246A>T (p.Leu82=)
n.258-636A>T
n.341A>T
n.492A>T
c.306A>T (p.Leu102=)
c.345A>T (p.Leu115=)
c.195A>T (p.Leu65=)
n.719A>T
9g.113391569T>CCA5196573ALADc.219A>G (p.Leu73=)
c.246A>G (p.Leu82=)
n.258-636A>G
n.341A>G
n.492A>G
c.306A>G (p.Leu102=)
c.345A>G (p.Leu115=)
c.195A>G (p.Leu65=)
n.719A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.113391569T>GCA466758222ALADc.219A>C (p.Leu73=)
c.246A>C (p.Leu82=)
n.258-636A>C
n.341A>C
n.492A>C
c.306A>C (p.Leu102=)
c.345A>C (p.Leu115=)
c.195A>C (p.Leu65=)
n.719A>C
9g.113391569T=CA1873366747ALADc.219A= (p.Leu73=)
c.246A= (p.Leu82=)
n.258-636A=
n.341A=
n.492A=
c.306A= (p.Leu102=)
c.345A= (p.Leu115=)
c.195A= (p.Leu65=)
n.719A=
9g.113391570A>CCA374565088ALADc.218T>G (p.Leu73Arg)
c.245T>G (p.Leu82Arg)
n.258-637T>G
n.340T>G
n.491T>G
c.305T>G (p.Leu102Arg)
c.344T>G (p.Leu115Arg)
c.194T>G (p.Leu65Arg)
n.718T>G
9g.113391570A>GCA374565089ALADc.218T>C (p.Leu73Pro)
c.245T>C (p.Leu82Pro)
n.258-637T>C
n.340T>C
n.491T>C
c.305T>C (p.Leu102Pro)
c.344T>C (p.Leu115Pro)
c.194T>C (p.Leu65Pro)
n.718T>C
9g.113391570A>TCA374565090ALADc.218T>A (p.Leu73Gln)
c.245T>A (p.Leu82Gln)
n.258-637T>A
n.340T>A
n.491T>A
c.305T>A (p.Leu102Gln)
c.344T>A (p.Leu115Gln)
c.194T>A (p.Leu65Gln)
n.718T>A
9g.113391571G>ACA466758223ALADc.217C>T (p.Leu73=)
c.244C>T (p.Leu82=)
n.258-638C>T
n.339C>T
n.490C>T
c.304C>T (p.Leu102=)
c.343C>T (p.Leu115=)
c.193C>T (p.Leu65=)
n.717C>T
gnomAD v4

Number of alleles fetched