Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.113391557C>A | CA374565034 | ALAD | c.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 |
9 | g.113391557C= | CA1873366741 | ALAD | c.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= | |
9 | g.113391557C>G | CA374565036 | ALAD | c.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 | |
9 | g.113391557C>T | CA466758213 | ALAD | c.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 | |
9 | g.113391558A>C | CA374565038 | ALAD | c.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 | |
9 | g.113391558A>G | CA374565040 | ALAD | c.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 | |
9 | g.113391558A>T | CA374565042 | ALAD | c.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 | |
9 | g.113391559A= | CA1873366742 | ALAD | c.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= | |
9 | g.113391559A>C | CA374565044 | ALAD | c.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 | |
9 | g.113391559A>G | CA5196570 | ALAD | c.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 |
9 | g.113391559A>T | CA374565046 | ALAD | c.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 | |
9 | g.113391560G>A | CA466758216 | ALAD | c.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 | |
9 | g.113391560G>C | CA466758214 | ALAD | c.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 | |
9 | g.113391560G>T | CA466758215 | ALAD | c.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 | |
9 | g.113391561A= | CA1873366743 | ALAD | c.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= | |
9 | g.113391561A>C | CA374565049 | ALAD | c.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 | |
9 | g.113391561A>G | CA374565052 | ALAD | c.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 |
9 | g.113391561A>T | CA374565051 | ALAD | c.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 | |
9 | g.113391562C>A | CA374565055 | ALAD | c.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 | |
9 | g.113391562C>G | CA374565057 | ALAD | c.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 |
9 | g.113391562C>T | CA374565058 | ALAD | c.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 |
9 | g.113391563A>C | CA374565060 | ALAD | c.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 | |
9 | g.113391563A>G | CA466758217 | ALAD | c.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 | |
9 | g.113391563A>T | CA374565062 | ALAD | c.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 |
9 | g.113391564C>A | CA374565064 | ALAD | c.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 | |
9 | g.113391564C>G | CA374565066 | ALAD | c.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 | |
9 | g.113391564C>T | CA374565067 | ALAD | c.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 | |
9 | g.113391565A= | CA1873366744 | ALAD | c.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= | |
9 | g.113391565A>C | CA374565078 | ALAD | c.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 | |
9 | g.113391565A>G | CA374565080 | ALAD | c.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 |
9 | g.113391565A>T | CA374565082 | ALAD | c.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 | |
9 | g.113391566G>A | CA466758218 | ALAD | c.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 | |
9 | g.113391566G>C | CA466758219 | ALAD | c.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 | |
9 | g.113391566G>T | CA466758220 | ALAD | c.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 | |
9 | g.113391567C>A | CA374565084 | ALAD | c.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 | |
9 | g.113391567C= | CA1873366745 | ALAD | c.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= | |
9 | g.113391567C>G | CA374565083 | ALAD | c.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 | |
9 | g.113391567C>T | CA5196571 | ALAD | c.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 |
9 | g.113391568G>A | CA5196572 | ALAD | c.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 |
9 | g.113391568G>C | CA374565086 | ALAD | c.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 | |
9 | g.113391568G= | CA1873366746 | ALAD | c.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= | |
9 | g.113391568G>T | CA374565087 | ALAD | c.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 | |
9 | g.113391569T>A | CA466758221 | ALAD | c.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 | |
9 | g.113391569T>C | CA5196573 | ALAD | c.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 |
9 | g.113391569T>G | CA466758222 | ALAD | c.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 | |
9 | g.113391569T= | CA1873366747 | ALAD | c.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= | |
9 | g.113391570A>C | CA374565088 | ALAD | c.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 | |
9 | g.113391570A>G | CA374565089 | ALAD | c.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 | |
9 | g.113391570A>T | CA374565090 | ALAD | c.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 | |
9 | g.113391571G>A | CA466758223 | ALAD | c.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 |