Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48511392C>A | CA516010114 | PORCN | c.234C>A (p.Leu78=) n.393C>A n.416C>A c.163C>A (p.Gln55Lys) c.99C>A (p.Leu33=) c.137-500C>A (n.137-500C>A) c.355C>A (p.Gln119Lys) n.273C>A c.21C>A (p.Leu7=) c.573C>A (p.Leu191=) c.486C>A (p.Leu162=) c.339C>A (p.Leu113=) c.285C>A (p.Leu95=) | |
X | g.48511392C>G | CA516010112 | PORCN | c.234C>G (p.Leu78=) n.393C>G n.416C>G c.163C>G (p.Gln55Glu) c.99C>G (p.Leu33=) c.137-500C>G (n.137-500C>G) c.355C>G (p.Gln119Glu) n.273C>G c.21C>G (p.Leu7=) c.573C>G (p.Leu191=) c.486C>G (p.Leu162=) c.339C>G (p.Leu113=) c.285C>G (p.Leu95=) | |
X | g.48511392C>T | CA516010109 | PORCN | c.234C>T (p.Leu78=) n.393C>T n.416C>T c.163C>T (p.Gln55Ter) c.99C>T (p.Leu33=) c.137-500C>T (n.137-500C>T) c.355C>T (p.Gln119Ter) n.273C>T c.21C>T (p.Leu7=) c.573C>T (p.Leu191=) c.486C>T (p.Leu162=) c.339C>T (p.Leu113=) c.285C>T (p.Leu95=) | gnomAD v4 |
X | g.48511393A>C | CA412842063 | PORCN | c.235A>C (p.Ser79Arg) n.394A>C n.417A>C c.164A>C (p.Gln55Pro) c.100A>C (p.Ser34Arg) c.137-499A>C (n.137-499A>C) c.356A>C (p.Gln119Pro) n.274A>C c.22A>C (p.Ser8Arg) c.574A>C (p.Ser192Arg) c.487A>C (p.Ser163Arg) c.340A>C (p.Ser114Arg) c.286A>C (p.Ser96Arg) | |
X | g.48511393A>G | CA412842061 | PORCN | c.235A>G (p.Ser79Gly) n.394A>G n.417A>G c.164A>G (p.Gln55Arg) c.100A>G (p.Ser34Gly) c.137-499A>G (n.137-499A>G) c.356A>G (p.Gln119Arg) n.274A>G c.22A>G (p.Ser8Gly) c.574A>G (p.Ser192Gly) c.487A>G (p.Ser163Gly) c.340A>G (p.Ser114Gly) c.286A>G (p.Ser96Gly) | |
X | g.48511393A>T | CA412842057 | PORCN | c.235A>T (p.Ser79Cys) n.394A>T n.417A>T c.164A>T (p.Gln55Leu) c.100A>T (p.Ser34Cys) c.137-499A>T (n.137-499A>T) c.356A>T (p.Gln119Leu) n.274A>T c.22A>T (p.Ser8Cys) c.574A>T (p.Ser192Cys) c.487A>T (p.Ser163Cys) c.340A>T (p.Ser114Cys) c.286A>T (p.Ser96Cys) | |
X | g.48511394G>A | CA412842065 | PORCN | c.236G>A (p.Ser79Asn) n.395G>A n.418G>A c.165G>A (p.Gln55=) c.101G>A (p.Ser34Asn) c.137-498G>A (n.137-498G>A) c.357G>A (p.Gln119=) n.275G>A c.23G>A (p.Ser8Asn) c.575G>A (p.Ser192Asn) c.488G>A (p.Ser163Asn) c.341G>A (p.Ser114Asn) c.287G>A (p.Ser96Asn) | gnomAD v4 |
X | g.48511394G>C | CA412842066 | PORCN | c.236G>C (p.Ser79Thr) n.395G>C n.418G>C c.165G>C (p.Gln55His) c.101G>C (p.Ser34Thr) c.137-498G>C (n.137-498G>C) c.357G>C (p.Gln119His) n.275G>C c.23G>C (p.Ser8Thr) c.575G>C (p.Ser192Thr) c.488G>C (p.Ser163Thr) c.341G>C (p.Ser114Thr) c.287G>C (p.Ser96Thr) | |
X | g.48511394G>T | CA412842068 | PORCN | c.236G>T (p.Ser79Ile) n.395G>T n.418G>T c.165G>T (p.Gln55His) c.101G>T (p.Ser34Ile) c.137-498G>T (n.137-498G>T) c.357G>T (p.Gln119His) n.275G>T c.23G>T (p.Ser8Ile) c.575G>T (p.Ser192Ile) c.488G>T (p.Ser163Ile) c.341G>T (p.Ser114Ile) c.287G>T (p.Ser96Ile) | |
X | g.48511395C>A | CA412842070 | PORCN | c.237C>A (p.Ser79Arg) n.396C>A n.419C>A c.166C>A (p.Pro56Thr) c.102C>A (p.Ser34Arg) c.137-497C>A (n.137-497C>A) c.358C>A (p.Pro120Thr) n.276C>A c.24C>A (p.Ser8Arg) c.576C>A (p.Ser192Arg) c.489C>A (p.Ser163Arg) c.342C>A (p.Ser114Arg) c.288C>A (p.Ser96Arg) | |
X | g.48511395C>G | CA412842071 | PORCN | c.237C>G (p.Ser79Arg) n.396C>G n.419C>G c.166C>G (p.Pro56Ala) c.102C>G (p.Ser34Arg) c.137-497C>G (n.137-497C>G) c.358C>G (p.Pro120Ala) n.276C>G c.24C>G (p.Ser8Arg) c.576C>G (p.Ser192Arg) c.489C>G (p.Ser163Arg) c.342C>G (p.Ser114Arg) c.288C>G (p.Ser96Arg) | |
X | g.48511395C>T | CA516010129 | PORCN | c.237C>T (p.Ser79=) n.396C>T n.419C>T c.166C>T (p.Pro56Ser) c.102C>T (p.Ser34=) c.137-497C>T (n.137-497C>T) c.358C>T (p.Pro120Ser) n.276C>T c.24C>T (p.Ser8=) c.576C>T (p.Ser192=) c.489C>T (p.Ser163=) c.342C>T (p.Ser114=) c.288C>T (p.Ser96=) | |
X | g.48511396C>A | CA412842074 | PORCN | c.238C>A (p.Leu80Ile) n.397C>A n.420C>A c.167C>A (p.Pro56His) c.103C>A (p.Leu35Ile) c.137-496C>A (n.137-496C>A) c.359C>A (p.Pro120His) n.277C>A c.25C>A (p.Leu9Ile) c.577C>A (p.Leu193Ile) c.490C>A (p.Leu164Ile) c.343C>A (p.Leu115Ile) c.289C>A (p.Leu97Ile) | |
X | g.48511396C= | CA2428293306 | PORCN | c.238C= (p.Leu80=) n.397C= n.420C= c.167C= (p.Pro56=) c.103C= (p.Leu35=) c.137-496C= (n.137-496C=) c.359C= (p.Pro120=) n.277C= c.25C= (p.Leu9=) c.577C= (p.Leu193=) c.490C= (p.Leu164=) c.343C= (p.Leu115=) c.289C= (p.Leu97=) | |
X | g.48511396C>G | CA412842075 | PORCN | c.238C>G (p.Leu80Val) n.397C>G n.420C>G c.167C>G (p.Pro56Arg) c.103C>G (p.Leu35Val) c.137-496C>G (n.137-496C>G) c.359C>G (p.Pro120Arg) n.277C>G c.25C>G (p.Leu9Val) c.577C>G (p.Leu193Val) c.490C>G (p.Leu164Val) c.343C>G (p.Leu115Val) c.289C>G (p.Leu97Val) | |
X | g.48511396C>T | CA412842077 | PORCN | c.238C>T (p.Leu80Phe) n.397C>T n.420C>T c.167C>T (p.Pro56Leu) c.103C>T (p.Leu35Phe) c.137-496C>T (n.137-496C>T) c.359C>T (p.Pro120Leu) n.277C>T c.25C>T (p.Leu9Phe) c.577C>T (p.Leu193Phe) c.490C>T (p.Leu164Phe) c.343C>T (p.Leu115Phe) c.289C>T (p.Leu97Phe) | dbSNP |
X | g.48511397T>A | CA412842079 | PORCN | c.239T>A (p.Leu80His) n.398T>A n.421T>A c.168T>A (p.Pro56=) c.104T>A (p.Leu35His) c.137-495T>A (n.137-495T>A) c.360T>A (p.Pro120=) n.278T>A c.26T>A (p.Leu9His) c.578T>A (p.Leu193His) c.491T>A (p.Leu164His) c.344T>A (p.Leu115His) c.290T>A (p.Leu97His) | |
X | g.48511397T>C | CA412842081 | PORCN | c.239T>C (p.Leu80Pro) n.398T>C n.421T>C c.168T>C (p.Pro56=) c.104T>C (p.Leu35Pro) c.137-495T>C (n.137-495T>C) c.360T>C (p.Pro120=) n.278T>C c.26T>C (p.Leu9Pro) c.578T>C (p.Leu193Pro) c.491T>C (p.Leu164Pro) c.344T>C (p.Leu115Pro) c.290T>C (p.Leu97Pro) | |
X | g.48511397T>G | CA412842083 | PORCN | c.239T>G (p.Leu80Arg) n.398T>G n.421T>G c.168T>G (p.Pro56=) c.104T>G (p.Leu35Arg) c.137-495T>G (n.137-495T>G) c.360T>G (p.Pro120=) n.278T>G c.26T>G (p.Leu9Arg) c.578T>G (p.Leu193Arg) c.491T>G (p.Leu164Arg) c.344T>G (p.Leu115Arg) c.290T>G (p.Leu97Arg) | |
X | g.48511398C>A | CA516010147 | PORCN | c.240C>A (p.Leu80=) n.399C>A n.422C>A c.169C>A (p.Pro57Thr) c.105C>A (p.Leu35=) c.137-494C>A (n.137-494C>A) c.361C>A (p.Pro121Thr) n.279C>A c.27C>A (p.Leu9=) c.579C>A (p.Leu193=) c.492C>A (p.Leu164=) c.345C>A (p.Leu115=) c.291C>A (p.Leu97=) | |
X | g.48511398C= | CA2428293307 | PORCN | c.240C= (p.Leu80=) n.399C= n.422C= c.169C= (p.Pro57=) c.105C= (p.Leu35=) c.137-494C= (n.137-494C=) c.361C= (p.Pro121=) n.279C= c.27C= (p.Leu9=) c.579C= (p.Leu193=) c.492C= (p.Leu164=) c.345C= (p.Leu115=) c.291C= (p.Leu97=) | |
X | g.48511398C>G | CA10402714 | PORCN | c.240C>G (p.Leu80=) n.399C>G n.422C>G c.169C>G (p.Pro57Ala) c.105C>G (p.Leu35=) c.137-494C>G (n.137-494C>G) c.361C>G (p.Pro121Ala) n.279C>G c.27C>G (p.Leu9=) c.579C>G (p.Leu193=) c.492C>G (p.Leu164=) c.345C>G (p.Leu115=) c.291C>G (p.Leu97=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.48511398C>T | CA10402713 | PORCN | c.240C>T (p.Leu80=) n.399C>T n.422C>T c.169C>T (p.Pro57Ser) c.105C>T (p.Leu35=) c.137-494C>T (n.137-494C>T) c.361C>T (p.Pro121Ser) n.279C>T c.27C>T (p.Leu9=) c.579C>T (p.Leu193=) c.492C>T (p.Leu164=) c.345C>T (p.Leu115=) c.291C>T (p.Leu97=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48511399C>A | CA412842087 | PORCN | c.241C>A (p.Leu81Met) n.400C>A n.423C>A c.170C>A (p.Pro57His) c.106C>A (p.Leu36Met) c.137-493C>A (n.137-493C>A) c.362C>A (p.Pro121His) n.280C>A c.28C>A (p.Leu10Met) c.580C>A (p.Leu194Met) c.493C>A (p.Leu165Met) c.346C>A (p.Leu116Met) c.292C>A (p.Leu98Met) | |
X | g.48511399C>G | CA412842086 | PORCN | c.241C>G (p.Leu81Val) n.400C>G n.423C>G c.170C>G (p.Pro57Arg) c.106C>G (p.Leu36Val) c.137-493C>G (n.137-493C>G) c.362C>G (p.Pro121Arg) n.280C>G c.28C>G (p.Leu10Val) c.580C>G (p.Leu194Val) c.493C>G (p.Leu165Val) c.346C>G (p.Leu116Val) c.292C>G (p.Leu98Val) | |
X | g.48511399C>T | CA516010153 | PORCN | c.241C>T (p.Leu81=) n.400C>T n.423C>T c.170C>T (p.Pro57Leu) c.106C>T (p.Leu36=) c.137-493C>T (n.137-493C>T) c.362C>T (p.Pro121Leu) n.280C>T c.28C>T (p.Leu10=) c.580C>T (p.Leu194=) c.493C>T (p.Leu165=) c.346C>T (p.Leu116=) c.292C>T (p.Leu98=) | |
X | g.48511400T>A | CA412842088 | PORCN | c.242T>A (p.Leu81Gln) n.401T>A n.424T>A c.171T>A (p.Pro57=) c.107T>A (p.Leu36Gln) c.137-492T>A (n.137-492T>A) c.363T>A (p.Pro121=) n.281T>A c.29T>A (p.Leu10Gln) c.581T>A (p.Leu194Gln) c.494T>A (p.Leu165Gln) c.347T>A (p.Leu116Gln) c.293T>A (p.Leu98Gln) | |
X | g.48511400T>C | CA412842090 | PORCN | c.242T>C (p.Leu81Pro) n.401T>C n.424T>C c.171T>C (p.Pro57=) c.107T>C (p.Leu36Pro) c.137-492T>C (n.137-492T>C) c.363T>C (p.Pro121=) n.281T>C c.29T>C (p.Leu10Pro) c.581T>C (p.Leu194Pro) c.494T>C (p.Leu165Pro) c.347T>C (p.Leu116Pro) c.293T>C (p.Leu98Pro) | |
X | g.48511400T>G | CA412842092 | PORCN | c.242T>G (p.Leu81Arg) n.401T>G n.424T>G c.171T>G (p.Pro57=) c.107T>G (p.Leu36Arg) c.137-492T>G (n.137-492T>G) c.363T>G (p.Pro121=) n.281T>G c.29T>G (p.Leu10Arg) c.581T>G (p.Leu194Arg) c.494T>G (p.Leu165Arg) c.347T>G (p.Leu116Arg) c.293T>G (p.Leu98Arg) | |
X | g.48511401G>A | CA10402715 | PORCN | c.243G>A (p.Leu81=) n.402G>A n.425G>A c.172G>A (p.Val58Met) c.108G>A (p.Leu36=) c.137-491G>A (n.137-491G>A) c.364G>A (p.Val122Met) n.282G>A c.30G>A (p.Leu10=) c.582G>A (p.Leu194=) c.495G>A (p.Leu165=) c.348G>A (p.Leu116=) c.294G>A (p.Leu98=) | dbSNP ExAC |
X | g.48511401G>C | CA516010161 | PORCN | c.243G>C (p.Leu81=) n.402G>C n.425G>C c.172G>C (p.Val58Leu) c.108G>C (p.Leu36=) c.137-491G>C (n.137-491G>C) c.364G>C (p.Val122Leu) n.282G>C c.30G>C (p.Leu10=) c.582G>C (p.Leu194=) c.495G>C (p.Leu165=) c.348G>C (p.Leu116=) c.294G>C (p.Leu98=) | |
X | g.48511401G= | CA2428293308 | PORCN | c.243G= (p.Leu81=) n.402G= n.425G= c.172G= (p.Val58=) c.108G= (p.Leu36=) c.137-491G= (n.137-491G=) c.364G= (p.Val122=) n.282G= c.30G= (p.Leu10=) c.582G= (p.Leu194=) c.495G= (p.Leu165=) c.348G= (p.Leu116=) c.294G= (p.Leu98=) | |
X | g.48511401G>T | CA516010164 | PORCN | c.243G>T (p.Leu81=) n.402G>T n.425G>T c.172G>T (p.Val58Leu) c.108G>T (p.Leu36=) c.137-491G>T (n.137-491G>T) c.364G>T (p.Val122Leu) n.282G>T c.30G>T (p.Leu10=) c.582G>T (p.Leu194=) c.495G>T (p.Leu165=) c.348G>T (p.Leu116=) c.294G>T (p.Leu98=) | |
X | g.48511402T>A | CA412842094 | PORCN | c.244T>A (p.Cys82Ser) n.403T>A n.426T>A c.173T>A (p.Val58Glu) c.109T>A (p.Cys37Ser) c.137-490T>A (n.137-490T>A) c.365T>A (p.Val122Glu) n.283T>A c.31T>A (p.Cys11Ser) c.583T>A (p.Cys195Ser) c.496T>A (p.Cys166Ser) c.349T>A (p.Cys117Ser) c.295T>A (p.Cys99Ser) | |
X | g.48511402T>C | CA412842096 | PORCN | c.244T>C (p.Cys82Arg) n.403T>C n.426T>C c.173T>C (p.Val58Ala) c.109T>C (p.Cys37Arg) c.137-490T>C (n.137-490T>C) c.365T>C (p.Val122Ala) n.283T>C c.31T>C (p.Cys11Arg) c.583T>C (p.Cys195Arg) c.496T>C (p.Cys166Arg) c.349T>C (p.Cys117Arg) c.295T>C (p.Cys99Arg) | |
X | g.48511402T>G | CA412842097 | PORCN | c.244T>G (p.Cys82Gly) n.403T>G n.426T>G c.173T>G (p.Val58Gly) c.109T>G (p.Cys37Gly) c.137-490T>G (n.137-490T>G) c.365T>G (p.Val122Gly) n.283T>G c.31T>G (p.Cys11Gly) c.583T>G (p.Cys195Gly) c.496T>G (p.Cys166Gly) c.349T>G (p.Cys117Gly) c.295T>G (p.Cys99Gly) | |
X | g.48511403G>A | CA412842099 | PORCN | c.245G>A (p.Cys82Tyr) n.404G>A n.427G>A c.174G>A (p.Val58=) c.110G>A (p.Cys37Tyr) c.137-489G>A (n.137-489G>A) c.366G>A (p.Val122=) n.284G>A c.32G>A (p.Cys11Tyr) c.584G>A (p.Cys195Tyr) c.497G>A (p.Cys166Tyr) c.350G>A (p.Cys117Tyr) c.296G>A (p.Cys99Tyr) | |
X | g.48511403G>C | CA412842101 | PORCN | c.245G>C (p.Cys82Ser) n.404G>C n.427G>C c.174G>C (p.Val58=) c.110G>C (p.Cys37Ser) c.137-489G>C (n.137-489G>C) c.366G>C (p.Val122=) n.284G>C c.32G>C (p.Cys11Ser) c.584G>C (p.Cys195Ser) c.497G>C (p.Cys166Ser) c.350G>C (p.Cys117Ser) c.296G>C (p.Cys99Ser) | |
X | g.48511403G>T | CA412842102 | PORCN | c.245G>T (p.Cys82Phe) n.404G>T n.427G>T c.174G>T (p.Val58=) c.110G>T (p.Cys37Phe) c.137-489G>T (n.137-489G>T) c.366G>T (p.Val122=) n.284G>T c.32G>T (p.Cys11Phe) c.584G>T (p.Cys195Phe) c.497G>T (p.Cys166Phe) c.350G>T (p.Cys117Phe) c.296G>T (p.Cys99Phe) | |
X | g.48511404C>A | CA412842104 | PORCN | c.246C>A (p.Cys82Ter) n.405C>A n.428C>A c.175C>A (p.Leu59Ile) c.111C>A (p.Cys37Ter) c.137-488C>A (n.137-488C>A) c.367C>A (p.Leu123Ile) n.285C>A c.33C>A (p.Cys11Ter) c.585C>A (p.Cys195Ter) c.498C>A (p.Cys166Ter) c.351C>A (p.Cys117Ter) c.297C>A (p.Cys99Ter) | |
X | g.48511404C>G | CA412842106 | PORCN | c.246C>G (p.Cys82Trp) n.405C>G n.428C>G c.175C>G (p.Leu59Val) c.111C>G (p.Cys37Trp) c.137-488C>G (n.137-488C>G) c.367C>G (p.Leu123Val) n.285C>G c.33C>G (p.Cys11Trp) c.585C>G (p.Cys195Trp) c.498C>G (p.Cys166Trp) c.351C>G (p.Cys117Trp) c.297C>G (p.Cys99Trp) | |
X | g.48511404C>T | CA516010170 | PORCN | c.246C>T (p.Cys82=) n.405C>T n.428C>T c.175C>T (p.Leu59=) c.111C>T (p.Cys37=) c.137-488C>T (n.137-488C>T) c.367C>T (p.Leu123=) n.285C>T c.33C>T (p.Cys11=) c.585C>T (p.Cys195=) c.498C>T (p.Cys166=) c.351C>T (p.Cys117=) c.297C>T (p.Cys99=) | gnomAD v4 |
X | g.48511405T>A | CA412842111 | PORCN | c.247T>A (p.Tyr83Asn) n.406T>A n.429T>A c.176T>A (p.Leu59Gln) c.112T>A (p.Tyr38Asn) c.137-487T>A (n.137-487T>A) c.368T>A (p.Leu123Gln) n.286T>A c.34T>A (p.Tyr12Asn) c.586T>A (p.Tyr196Asn) c.499T>A (p.Tyr167Asn) c.352T>A (p.Tyr118Asn) c.298T>A (p.Tyr100Asn) | |
X | g.48511405T>C | CA412842109 | PORCN | c.247T>C (p.Tyr83His) n.406T>C n.429T>C c.176T>C (p.Leu59Pro) c.112T>C (p.Tyr38His) c.137-487T>C (n.137-487T>C) c.368T>C (p.Leu123Pro) n.286T>C c.34T>C (p.Tyr12His) c.586T>C (p.Tyr196His) c.499T>C (p.Tyr167His) c.352T>C (p.Tyr118His) c.298T>C (p.Tyr100His) | |
X | g.48511405T>G | CA412842108 | PORCN | c.247T>G (p.Tyr83Asp) n.406T>G n.429T>G c.176T>G (p.Leu59Arg) c.112T>G (p.Tyr38Asp) c.137-487T>G (n.137-487T>G) c.368T>G (p.Leu123Arg) n.286T>G c.34T>G (p.Tyr12Asp) c.586T>G (p.Tyr196Asp) c.499T>G (p.Tyr167Asp) c.352T>G (p.Tyr118Asp) c.298T>G (p.Tyr100Asp) | |
X | g.48511406A>C | CA412842113 | PORCN | c.248A>C (p.Tyr83Ser) n.407A>C n.430A>C c.177A>C (p.Leu59=) c.113A>C (p.Tyr38Ser) c.137-486A>C (n.137-486A>C) c.369A>C (p.Leu123=) n.287A>C c.35A>C (p.Tyr12Ser) c.587A>C (p.Tyr196Ser) c.500A>C (p.Tyr167Ser) c.353A>C (p.Tyr118Ser) c.299A>C (p.Tyr100Ser) | |
X | g.48511406A>G | CA412842116 | PORCN | c.248A>G (p.Tyr83Cys) n.407A>G n.430A>G c.177A>G (p.Leu59=) c.113A>G (p.Tyr38Cys) c.137-486A>G (n.137-486A>G) c.369A>G (p.Leu123=) n.287A>G c.35A>G (p.Tyr12Cys) c.587A>G (p.Tyr196Cys) c.500A>G (p.Tyr167Cys) c.353A>G (p.Tyr118Cys) c.299A>G (p.Tyr100Cys) | |
X | g.48511406A>T | CA412842114 | PORCN | c.248A>T (p.Tyr83Phe) n.407A>T n.430A>T c.177A>T (p.Leu59=) c.113A>T (p.Tyr38Phe) c.137-486A>T (n.137-486A>T) c.369A>T (p.Leu123=) n.287A>T c.35A>T (p.Tyr12Phe) c.587A>T (p.Tyr196Phe) c.500A>T (p.Tyr167Phe) c.353A>T (p.Tyr118Phe) c.299A>T (p.Tyr100Phe) | |
X | g.48511406_48511407delinsAC | CA2428293309 | PORCN | c.248_249delinsAC (p.Tyr83=) n.407_408delinsAC n.430_431delinsAC c.177_178delinsAC (p.Leu59=) c.113_114delinsAC (p.Tyr38=) c.137-486_137-485delinsAC (n.137-486_137-485delinsAC) c.369_370delinsAC (p.Leu123=) n.287_288delinsAC c.35_36delinsAC (p.Tyr12=) c.587_588delinsAC (p.Tyr196=) c.500_501delinsAC (p.Tyr167=) c.353_354delinsAC (p.Tyr118=) c.299_300delinsAC (p.Tyr100=) | |
X | g.48511407C>A | CA412842117 | PORCN | c.249C>A (p.Tyr83Ter) n.408C>A n.431C>A c.178C>A (p.Pro60Thr) c.114C>A (p.Tyr38Ter) c.137-485C>A (n.137-485C>A) c.370C>A (p.Pro124Thr) n.288C>A c.36C>A (p.Tyr12Ter) c.588C>A (p.Tyr196Ter) c.501C>A (p.Tyr167Ter) c.354C>A (p.Tyr118Ter) c.300C>A (p.Tyr100Ter) | |
X | g.48511407C>G | CA412842119 | PORCN | c.249C>G (p.Tyr83Ter) n.408C>G n.431C>G c.178C>G (p.Pro60Ala) c.114C>G (p.Tyr38Ter) c.137-485C>G (n.137-485C>G) c.370C>G (p.Pro124Ala) n.288C>G c.36C>G (p.Tyr12Ter) c.588C>G (p.Tyr196Ter) c.501C>G (p.Tyr167Ter) c.354C>G (p.Tyr118Ter) c.300C>G (p.Tyr100Ter) | |
X | g.48511407C>T | CA516010189 | PORCN | c.249C>T (p.Tyr83=) n.408C>T n.431C>T c.178C>T (p.Pro60Ser) c.114C>T (p.Tyr38=) c.137-485C>T (n.137-485C>T) c.370C>T (p.Pro124Ser) n.288C>T c.36C>T (p.Tyr12=) c.588C>T (p.Tyr196=) c.501C>T (p.Tyr167=) c.354C>T (p.Tyr118=) c.300C>T (p.Tyr100=) | |
X | g.48511408del | CA224396 | PORCN | c.250del (p.Leu84SerfsTer?) n.409del n.432del c.179del (p.Pro60LeufsTer?) c.115del (p.Leu39SerfsTer?) c.137-484del (n.137-484del) c.371del (p.Pro124LeufsTer?) n.289del c.37del (p.Leu13SerfsTer?) c.589del (p.Leu197SerfsTer?) c.502del (p.Leu168SerfsTer?) c.355del (p.Leu119SerfsTer?) c.301del (p.Leu101SerfsTer?) | ClinVar dbSNP |
X | g.48511408C>A | CA412842121 | PORCN | c.250C>A (p.Leu84Ile) n.409C>A n.432C>A c.179C>A (p.Pro60His) c.115C>A (p.Leu39Ile) c.137-484C>A (n.137-484C>A) c.371C>A (p.Pro124His) n.289C>A c.37C>A (p.Leu13Ile) c.589C>A (p.Leu197Ile) c.502C>A (p.Leu168Ile) c.355C>A (p.Leu119Ile) c.301C>A (p.Leu101Ile) | |
X | g.48511408C>G | CA412842123 | PORCN | c.250C>G (p.Leu84Val) n.409C>G n.432C>G c.179C>G (p.Pro60Arg) c.115C>G (p.Leu39Val) c.137-484C>G (n.137-484C>G) c.371C>G (p.Pro124Arg) n.289C>G c.37C>G (p.Leu13Val) c.589C>G (p.Leu197Val) c.502C>G (p.Leu168Val) c.355C>G (p.Leu119Val) c.301C>G (p.Leu101Val) | gnomAD v4 |
X | g.48511408C>T | CA412842125 | PORCN | c.250C>T (p.Leu84Phe) n.409C>T n.432C>T c.179C>T (p.Pro60Leu) c.115C>T (p.Leu39Phe) c.137-484C>T (n.137-484C>T) c.371C>T (p.Pro124Leu) n.289C>T c.37C>T (p.Leu13Phe) c.589C>T (p.Leu197Phe) c.502C>T (p.Leu168Phe) c.355C>T (p.Leu119Phe) c.301C>T (p.Leu101Phe) | |
X | g.48511409T>A | CA412842126 | PORCN | c.251T>A (p.Leu84His) n.410T>A n.433T>A c.180T>A (p.Pro60=) c.116T>A (p.Leu39His) c.137-483T>A (n.137-483T>A) c.372T>A (p.Pro124=) n.290T>A c.38T>A (p.Leu13His) c.590T>A (p.Leu197His) c.503T>A (p.Leu168His) c.356T>A (p.Leu119His) c.302T>A (p.Leu101His) | |
X | g.48511409T>C | CA412842128 | PORCN | c.251T>C (p.Leu84Pro) n.410T>C n.433T>C c.180T>C (p.Pro60=) c.116T>C (p.Leu39Pro) c.137-483T>C (n.137-483T>C) c.372T>C (p.Pro124=) n.290T>C c.38T>C (p.Leu13Pro) c.590T>C (p.Leu197Pro) c.503T>C (p.Leu168Pro) c.356T>C (p.Leu119Pro) c.302T>C (p.Leu101Pro) | |
X | g.48511409T>G | CA412842130 | PORCN | c.251T>G (p.Leu84Arg) n.410T>G n.433T>G c.180T>G (p.Pro60=) c.116T>G (p.Leu39Arg) c.137-483T>G (n.137-483T>G) c.372T>G (p.Pro124=) n.290T>G c.38T>G (p.Leu13Arg) c.590T>G (p.Leu197Arg) c.503T>G (p.Leu168Arg) c.356T>G (p.Leu119Arg) c.302T>G (p.Leu101Arg) | |
X | g.48511410C>A | CA516010204 | PORCN | c.252C>A (p.Leu84=) n.411C>A n.434C>A c.181C>A (p.Arg61Ser) c.117C>A (p.Leu39=) c.137-482C>A (n.137-482C>A) c.373C>A (p.Arg125Ser) n.291C>A c.39C>A (p.Leu13=) c.591C>A (p.Leu197=) c.504C>A (p.Leu168=) c.357C>A (p.Leu119=) c.303C>A (p.Leu101=) | |
X | g.48511410C= | CA2428293310 | PORCN | c.252C= (p.Leu84=) n.411C= n.434C= c.181C= (p.Arg61=) c.117C= (p.Leu39=) c.137-482C= (n.137-482C=) c.373C= (p.Arg125=) n.291C= c.39C= (p.Leu13=) c.591C= (p.Leu197=) c.504C= (p.Leu168=) c.357C= (p.Leu119=) c.303C= (p.Leu101=) | |
X | g.48511410C>G | CA516010205 | PORCN | c.252C>G (p.Leu84=) n.411C>G n.434C>G c.181C>G (p.Arg61Gly) c.117C>G (p.Leu39=) c.137-482C>G (n.137-482C>G) c.373C>G (p.Arg125Gly) n.291C>G c.39C>G (p.Leu13=) c.591C>G (p.Leu197=) c.504C>G (p.Leu168=) c.357C>G (p.Leu119=) c.303C>G (p.Leu101=) | COSMIC |
X | g.48511410C>T | CA10402716 | PORCN | c.252C>T (p.Leu84=) n.411C>T n.434C>T c.181C>T (p.Arg61Cys) c.117C>T (p.Leu39=) c.137-482C>T (n.137-482C>T) c.373C>T (p.Arg125Cys) n.291C>T c.39C>T (p.Leu13=) c.591C>T (p.Leu197=) c.504C>T (p.Leu168=) c.357C>T (p.Leu119=) c.303C>T (p.Leu101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48511411G>A | CA10402717 | PORCN | c.253G>A (p.Val85Met) n.412G>A n.435G>A c.182G>A (p.Arg61His) c.118G>A (p.Val40Met) c.137-481G>A (n.137-481G>A) c.374G>A (p.Arg125His) n.292G>A c.40G>A (p.Val14Met) c.592G>A (p.Val198Met) c.505G>A (p.Val169Met) c.358G>A (p.Val120Met) c.304G>A (p.Val102Met) | dbSNP ExAC gnomAD v4 |
X | g.48511411G>C | CA412842133 | PORCN | c.253G>C (p.Val85Leu) n.412G>C n.435G>C c.182G>C (p.Arg61Pro) c.118G>C (p.Val40Leu) c.137-481G>C (n.137-481G>C) c.374G>C (p.Arg125Pro) n.292G>C c.40G>C (p.Val14Leu) c.592G>C (p.Val198Leu) c.505G>C (p.Val169Leu) c.358G>C (p.Val120Leu) c.304G>C (p.Val102Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48511411G= | CA2428293311 | PORCN | c.253G= (p.Val85=) n.412G= n.435G= c.182G= (p.Arg61=) c.118G= (p.Val40=) c.137-481G= (n.137-481G=) c.374G= (p.Arg125=) n.292G= c.40G= (p.Val14=) c.592G= (p.Val198=) c.505G= (p.Val169=) c.358G= (p.Val120=) c.304G= (p.Val102=) | |
X | g.48511411G>T | CA412842134 | PORCN | c.253G>T (p.Val85Leu) n.412G>T n.435G>T c.182G>T (p.Arg61Leu) c.118G>T (p.Val40Leu) c.137-481G>T (n.137-481G>T) c.374G>T (p.Arg125Leu) n.292G>T c.40G>T (p.Val14Leu) c.592G>T (p.Val198Leu) c.505G>T (p.Val169Leu) c.358G>T (p.Val120Leu) c.304G>T (p.Val102Leu) | |
X | g.48511412T>A | CA412842135 | PORCN | c.254T>A (p.Val85Glu) n.413T>A n.436T>A c.183T>A (p.Arg61=) c.119T>A (p.Val40Glu) c.137-480T>A (n.137-480T>A) c.375T>A (p.Arg125=) n.293T>A c.41T>A (p.Val14Glu) c.593T>A (p.Val198Glu) c.506T>A (p.Val169Glu) c.359T>A (p.Val120Glu) c.305T>A (p.Val102Glu) | |
X | g.48511412T>C | CA412842138 | PORCN | c.254T>C (p.Val85Ala) n.413T>C n.436T>C c.183T>C (p.Arg61=) c.119T>C (p.Val40Ala) c.137-480T>C (n.137-480T>C) c.375T>C (p.Arg125=) n.293T>C c.41T>C (p.Val14Ala) c.593T>C (p.Val198Ala) c.506T>C (p.Val169Ala) c.359T>C (p.Val120Ala) c.305T>C (p.Val102Ala) | dbSNP |
X | g.48511412T>G | CA412842137 | PORCN | c.254T>G (p.Val85Gly) n.413T>G n.436T>G c.183T>G (p.Arg61=) c.119T>G (p.Val40Gly) c.137-480T>G (n.137-480T>G) c.375T>G (p.Arg125=) n.293T>G c.41T>G (p.Val14Gly) c.593T>G (p.Val198Gly) c.506T>G (p.Val169Gly) c.359T>G (p.Val120Gly) c.305T>G (p.Val102Gly) | |
X | g.48511412T= | CA2428293312 | PORCN | c.254T= (p.Val85=) n.413T= n.436T= c.183T= (p.Arg61=) c.119T= (p.Val40=) c.137-480T= (n.137-480T=) c.375T= (p.Arg125=) n.293T= c.41T= (p.Val14=) c.593T= (p.Val198=) c.506T= (p.Val169=) c.359T= (p.Val120=) c.305T= (p.Val102=) | |
X | g.48511413G>A | CA329067810 | PORCN | c.255G>A (p.Val85=) n.414G>A n.437G>A c.184G>A (p.Ala62Thr) c.120G>A (p.Val40=) c.137-479G>A (n.137-479G>A) c.376G>A (p.Ala126Thr) n.294G>A c.42G>A (p.Val14=) c.594G>A (p.Val198=) c.507G>A (p.Val169=) c.360G>A (p.Val120=) c.306G>A (p.Val102=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48511413G>C | CA516010216 | PORCN | c.255G>C (p.Val85=) n.414G>C n.437G>C c.184G>C (p.Ala62Pro) c.120G>C (p.Val40=) c.137-479G>C (n.137-479G>C) c.376G>C (p.Ala126Pro) n.294G>C c.42G>C (p.Val14=) c.594G>C (p.Val198=) c.507G>C (p.Val169=) c.360G>C (p.Val120=) c.306G>C (p.Val102=) | |
X | g.48511413G= | CA2428293313 | PORCN | c.255G= (p.Val85=) n.414G= n.437G= c.184G= (p.Ala62=) c.120G= (p.Val40=) c.137-479G= (n.137-479G=) c.376G= (p.Ala126=) n.294G= c.42G= (p.Val14=) c.594G= (p.Val198=) c.507G= (p.Val169=) c.360G= (p.Val120=) c.306G= (p.Val102=) | |
X | g.48511413G>T | CA516010215 | PORCN | c.255G>T (p.Val85=) n.414G>T n.437G>T c.184G>T (p.Ala62Ser) c.120G>T (p.Val40=) c.137-479G>T (n.137-479G>T) c.376G>T (p.Ala126Ser) n.294G>T c.42G>T (p.Val14=) c.594G>T (p.Val198=) c.507G>T (p.Val169=) c.360G>T (p.Val120=) c.306G>T (p.Val102=) | |
X | g.48511414C>A | CA412842139 | PORCN | c.256C>A (p.Leu86Met) n.415C>A n.438C>A c.185C>A (p.Ala62Asp) c.121C>A (p.Leu41Met) c.137-478C>A (n.137-478C>A) c.377C>A (p.Ala126Asp) n.295C>A c.43C>A (p.Leu15Met) c.595C>A (p.Leu199Met) c.508C>A (p.Leu170Met) c.361C>A (p.Leu121Met) c.307C>A (p.Leu103Met) | |
X | g.48511414C= | CA2428293314 | PORCN | c.256C= (p.Leu86=) n.415C= n.438C= c.185C= (p.Ala62=) c.121C= (p.Leu41=) c.137-478C= (n.137-478C=) c.377C= (p.Ala126=) n.295C= c.43C= (p.Leu15=) c.595C= (p.Leu199=) c.508C= (p.Leu170=) c.361C= (p.Leu121=) c.307C= (p.Leu103=) | |
X | g.48511414C>G | CA412842141 | PORCN | c.256C>G (p.Leu86Val) n.415C>G n.438C>G c.185C>G (p.Ala62Gly) c.121C>G (p.Leu41Val) c.137-478C>G (n.137-478C>G) c.377C>G (p.Ala126Gly) n.295C>G c.43C>G (p.Leu15Val) c.595C>G (p.Leu199Val) c.508C>G (p.Leu170Val) c.361C>G (p.Leu121Val) c.307C>G (p.Leu103Val) | dbSNP |
X | g.48511414C>T | CA516010217 | PORCN | c.256C>T (p.Leu86=) n.415C>T n.438C>T c.185C>T (p.Ala62Val) c.121C>T (p.Leu41=) c.137-478C>T (n.137-478C>T) c.377C>T (p.Ala126Val) n.295C>T c.43C>T (p.Leu15=) c.595C>T (p.Leu199=) c.508C>T (p.Leu170=) c.361C>T (p.Leu121=) c.307C>T (p.Leu103=) | gnomAD v4 |
X | g.48511415T>A | CA412842143 | PORCN | c.257T>A (p.Leu86Gln) n.416T>A n.439T>A c.186T>A (p.Ala62=) c.122T>A (p.Leu41Gln) c.137-477T>A (n.137-477T>A) c.378T>A (p.Ala126=) n.296T>A c.44T>A (p.Leu15Gln) c.596T>A (p.Leu199Gln) c.509T>A (p.Leu170Gln) c.362T>A (p.Leu121Gln) c.308T>A (p.Leu103Gln) | gnomAD v4 |
X | g.48511415T>C | CA412842145 | PORCN | c.257T>C (p.Leu86Pro) n.416T>C n.439T>C c.186T>C (p.Ala62=) c.122T>C (p.Leu41Pro) c.137-477T>C (n.137-477T>C) c.378T>C (p.Ala126=) n.296T>C c.44T>C (p.Leu15Pro) c.596T>C (p.Leu199Pro) c.509T>C (p.Leu170Pro) c.362T>C (p.Leu121Pro) c.308T>C (p.Leu103Pro) | |
X | g.48511415T>G | CA412842146 | PORCN | c.257T>G (p.Leu86Arg) n.416T>G n.439T>G c.186T>G (p.Ala62=) c.122T>G (p.Leu41Arg) c.137-477T>G (n.137-477T>G) c.378T>G (p.Ala126=) n.296T>G c.44T>G (p.Leu15Arg) c.596T>G (p.Leu199Arg) c.509T>G (p.Leu170Arg) c.362T>G (p.Leu121Arg) c.308T>G (p.Leu103Arg) | |
X | g.48511416G>A | CA516010220 | PORCN | c.258G>A (p.Leu86=) n.417G>A n.440G>A c.187G>A (p.Val63Ile) c.123G>A (p.Leu41=) c.137-476G>A (n.137-476G>A) c.379G>A (p.Val127Ile) n.297G>A c.45G>A (p.Leu15=) c.597G>A (p.Leu199=) c.510G>A (p.Leu170=) c.363G>A (p.Leu121=) c.309G>A (p.Leu103=) | |
X | g.48511416G>C | CA516010222 | PORCN | c.258G>C (p.Leu86=) n.417G>C n.440G>C c.187G>C (p.Val63Leu) c.123G>C (p.Leu41=) c.137-476G>C (n.137-476G>C) c.379G>C (p.Val127Leu) n.297G>C c.45G>C (p.Leu15=) c.597G>C (p.Leu199=) c.510G>C (p.Leu170=) c.363G>C (p.Leu121=) c.309G>C (p.Leu103=) | |
X | g.48511416G>T | CA516010224 | PORCN | c.258G>T (p.Leu86=) n.417G>T n.440G>T c.187G>T (p.Val63Phe) c.123G>T (p.Leu41=) c.137-476G>T (n.137-476G>T) c.379G>T (p.Val127Phe) n.297G>T c.45G>T (p.Leu15=) c.597G>T (p.Leu199=) c.510G>T (p.Leu170=) c.363G>T (p.Leu121=) c.309G>T (p.Leu103=) | |
X | g.48511417T>A | CA412842148 | PORCN | c.259T>A (p.Phe87Ile) n.418T>A n.441T>A c.188T>A (p.Val63Asp) c.124T>A (p.Phe42Ile) c.137-475T>A (n.137-475T>A) c.380T>A (p.Val127Asp) n.298T>A c.46T>A (p.Phe16Ile) c.598T>A (p.Phe200Ile) c.511T>A (p.Phe171Ile) c.364T>A (p.Phe122Ile) c.310T>A (p.Phe104Ile) | |
X | g.48511417T>C | CA412842150 | PORCN | c.259T>C (p.Phe87Leu) n.418T>C n.441T>C c.188T>C (p.Val63Ala) c.124T>C (p.Phe42Leu) c.137-475T>C (n.137-475T>C) c.380T>C (p.Val127Ala) n.298T>C c.46T>C (p.Phe16Leu) c.598T>C (p.Phe200Leu) c.511T>C (p.Phe171Leu) c.364T>C (p.Phe122Leu) c.310T>C (p.Phe104Leu) | |
X | g.48511417T>G | CA412842152 | PORCN | c.259T>G (p.Phe87Val) n.418T>G n.441T>G c.188T>G (p.Val63Gly) c.124T>G (p.Phe42Val) c.137-475T>G (n.137-475T>G) c.380T>G (p.Val127Gly) n.298T>G c.46T>G (p.Phe16Val) c.598T>G (p.Phe200Val) c.511T>G (p.Phe171Val) c.364T>G (p.Phe122Val) c.310T>G (p.Phe104Val) | |
X | g.48511418T>A | CA412842154 | PORCN | c.260T>A (p.Phe87Tyr) n.419T>A n.442T>A c.189T>A (p.Val63=) c.125T>A (p.Phe42Tyr) c.137-474T>A (n.137-474T>A) c.381T>A (p.Val127=) n.299T>A c.47T>A (p.Phe16Tyr) c.599T>A (p.Phe200Tyr) c.512T>A (p.Phe171Tyr) c.365T>A (p.Phe122Tyr) c.311T>A (p.Phe104Tyr) | |
X | g.48511418T>C | CA412842156 | PORCN | c.260T>C (p.Phe87Ser) n.419T>C n.442T>C c.189T>C (p.Val63=) c.125T>C (p.Phe42Ser) c.137-474T>C (n.137-474T>C) c.381T>C (p.Val127=) n.299T>C c.47T>C (p.Phe16Ser) c.599T>C (p.Phe200Ser) c.512T>C (p.Phe171Ser) c.365T>C (p.Phe122Ser) c.311T>C (p.Phe104Ser) | |
X | g.48511418T>G | CA412842158 | PORCN | c.260T>G (p.Phe87Cys) n.419T>G n.442T>G c.189T>G (p.Val63=) c.125T>G (p.Phe42Cys) c.137-474T>G (n.137-474T>G) c.381T>G (p.Val127=) n.299T>G c.47T>G (p.Phe16Cys) c.599T>G (p.Phe200Cys) c.512T>G (p.Phe171Cys) c.365T>G (p.Phe122Cys) c.311T>G (p.Phe104Cys) | |
X | g.48511419C>A | CA412842159 | PORCN | c.261C>A (p.Phe87Leu) n.420C>A n.443C>A c.190C>A (p.Pro64Thr) c.126C>A (p.Phe42Leu) c.137-473C>A (n.137-473C>A) c.382C>A (p.Pro128Thr) n.300C>A c.48C>A (p.Phe16Leu) c.600C>A (p.Phe200Leu) c.513C>A (p.Phe171Leu) c.366C>A (p.Phe122Leu) c.312C>A (p.Phe104Leu) | |
X | g.48511419C>G | CA412842160 | PORCN | c.261C>G (p.Phe87Leu) n.420C>G n.443C>G c.190C>G (p.Pro64Ala) c.126C>G (p.Phe42Leu) c.137-473C>G (n.137-473C>G) c.382C>G (p.Pro128Ala) n.300C>G c.48C>G (p.Phe16Leu) c.600C>G (p.Phe200Leu) c.513C>G (p.Phe171Leu) c.366C>G (p.Phe122Leu) c.312C>G (p.Phe104Leu) | |
X | g.48511419C>T | CA516010226 | PORCN | c.261C>T (p.Phe87=) n.420C>T n.443C>T c.190C>T (p.Pro64Ser) c.126C>T (p.Phe42=) c.137-473C>T (n.137-473C>T) c.382C>T (p.Pro128Ser) n.300C>T c.48C>T (p.Phe16=) c.600C>T (p.Phe200=) c.513C>T (p.Phe171=) c.366C>T (p.Phe122=) c.312C>T (p.Phe104=) | COSMIC |
X | g.48511420C>A | CA412842164 | PORCN | c.262C>A (p.Leu88Ile) n.421C>A n.444C>A c.191C>A (p.Pro64His) c.127C>A (p.Leu43Ile) c.137-472C>A (n.137-472C>A) c.383C>A (p.Pro128His) n.301C>A c.49C>A (p.Leu17Ile) c.601C>A (p.Leu201Ile) c.514C>A (p.Leu172Ile) c.367C>A (p.Leu123Ile) c.313C>A (p.Leu105Ile) | |
X | g.48511420C>G | CA412842165 | PORCN | c.262C>G (p.Leu88Val) n.421C>G n.444C>G c.191C>G (p.Pro64Arg) c.127C>G (p.Leu43Val) c.137-472C>G (n.137-472C>G) c.383C>G (p.Pro128Arg) n.301C>G c.49C>G (p.Leu17Val) c.601C>G (p.Leu201Val) c.514C>G (p.Leu172Val) c.367C>G (p.Leu123Val) c.313C>G (p.Leu105Val) | gnomAD v4 |
X | g.48511420C>T | CA412842167 | PORCN | c.262C>T (p.Leu88Phe) n.421C>T n.444C>T c.191C>T (p.Pro64Leu) c.127C>T (p.Leu43Phe) c.137-472C>T (n.137-472C>T) c.383C>T (p.Pro128Leu) n.301C>T c.49C>T (p.Leu17Phe) c.601C>T (p.Leu201Phe) c.514C>T (p.Leu172Phe) c.367C>T (p.Leu123Phe) c.313C>T (p.Leu105Phe) | |
X | g.48511421T>A | CA412842170 | PORCN | c.263T>A (p.Leu88His) n.422T>A n.445T>A c.192T>A (p.Pro64=) c.128T>A (p.Leu43His) c.137-471T>A (n.137-471T>A) c.384T>A (p.Pro128=) n.302T>A c.50T>A (p.Leu17His) c.602T>A (p.Leu201His) c.515T>A (p.Leu172His) c.368T>A (p.Leu123His) c.314T>A (p.Leu105His) | |
X | g.48511421T>C | CA412842171 | PORCN | c.263T>C (p.Leu88Pro) n.422T>C n.445T>C c.192T>C (p.Pro64=) c.128T>C (p.Leu43Pro) c.137-471T>C (n.137-471T>C) c.384T>C (p.Pro128=) n.302T>C c.50T>C (p.Leu17Pro) c.602T>C (p.Leu201Pro) c.515T>C (p.Leu172Pro) c.368T>C (p.Leu123Pro) c.314T>C (p.Leu105Pro) | |
X | g.48511421T>G | CA412842173 | PORCN | c.263T>G (p.Leu88Arg) n.422T>G n.445T>G c.192T>G (p.Pro64=) c.128T>G (p.Leu43Arg) c.137-471T>G (n.137-471T>G) c.384T>G (p.Pro128=) n.302T>G c.50T>G (p.Leu17Arg) c.602T>G (p.Leu201Arg) c.515T>G (p.Leu172Arg) c.368T>G (p.Leu123Arg) c.314T>G (p.Leu105Arg) | |
X | g.48511422C>A | CA516010231 | PORCN | c.264C>A (p.Leu88=) n.423C>A n.446C>A c.193C>A (p.Leu65Met) c.129C>A (p.Leu43=) c.137-470C>A (n.137-470C>A) c.385C>A (p.Leu129Met) n.303C>A c.51C>A (p.Leu17=) c.603C>A (p.Leu201=) c.516C>A (p.Leu172=) c.369C>A (p.Leu123=) c.315C>A (p.Leu105=) | |
X | g.48511422C>G | CA516010232 | PORCN | c.264C>G (p.Leu88=) n.423C>G n.446C>G c.193C>G (p.Leu65Val) c.129C>G (p.Leu43=) c.137-470C>G (n.137-470C>G) c.385C>G (p.Leu129Val) n.303C>G c.51C>G (p.Leu17=) c.603C>G (p.Leu201=) c.516C>G (p.Leu172=) c.369C>G (p.Leu123=) c.315C>G (p.Leu105=) | |
X | g.48511422C>T | CA516010233 | PORCN | c.264C>T (p.Leu88=) n.423C>T n.446C>T c.193C>T (p.Leu65=) c.129C>T (p.Leu43=) c.137-470C>T (n.137-470C>T) c.385C>T (p.Leu129=) n.303C>T c.51C>T (p.Leu17=) c.603C>T (p.Leu201=) c.516C>T (p.Leu172=) c.369C>T (p.Leu123=) c.315C>T (p.Leu105=) | |
X | g.48511423T>A | CA412842175 | PORCN | c.265T>A (p.Cys89Ser) n.424T>A n.447T>A c.194T>A (p.Leu65Gln) c.130T>A (p.Cys44Ser) c.137-469T>A (n.137-469T>A) c.386T>A (p.Leu129Gln) n.304T>A c.52T>A (p.Cys18Ser) c.604T>A (p.Cys202Ser) c.517T>A (p.Cys173Ser) c.370T>A (p.Cys124Ser) c.316T>A (p.Cys106Ser) | |
X | g.48511423T>C | CA412842177 | PORCN | c.265T>C (p.Cys89Arg) n.424T>C n.447T>C c.194T>C (p.Leu65Pro) c.130T>C (p.Cys44Arg) c.137-469T>C (n.137-469T>C) c.386T>C (p.Leu129Pro) n.304T>C c.52T>C (p.Cys18Arg) c.604T>C (p.Cys202Arg) c.517T>C (p.Cys173Arg) c.370T>C (p.Cys124Arg) c.316T>C (p.Cys106Arg) | |
X | g.48511423T>G | CA412842178 | PORCN | c.265T>G (p.Cys89Gly) n.424T>G n.447T>G c.194T>G (p.Leu65Arg) c.130T>G (p.Cys44Gly) c.137-469T>G (n.137-469T>G) c.386T>G (p.Leu129Arg) n.304T>G c.52T>G (p.Cys18Gly) c.604T>G (p.Cys202Gly) c.517T>G (p.Cys173Gly) c.370T>G (p.Cys124Gly) c.316T>G (p.Cys106Gly) | |
X | g.48511424G>A | CA412842180 | PORCN | c.266G>A (p.Cys89Tyr) n.425G>A n.448G>A c.195G>A (p.Leu65=) c.131G>A (p.Cys44Tyr) c.137-468G>A (n.137-468G>A) c.387G>A (p.Leu129=) n.305G>A c.53G>A (p.Cys18Tyr) c.605G>A (p.Cys202Tyr) c.518G>A (p.Cys173Tyr) c.371G>A (p.Cys124Tyr) c.317G>A (p.Cys106Tyr) | |
X | g.48511424G>C | CA412842181 | PORCN | c.266G>C (p.Cys89Ser) n.425G>C n.448G>C c.195G>C (p.Leu65=) c.131G>C (p.Cys44Ser) c.137-468G>C (n.137-468G>C) c.387G>C (p.Leu129=) n.305G>C c.53G>C (p.Cys18Ser) c.605G>C (p.Cys202Ser) c.518G>C (p.Cys173Ser) c.371G>C (p.Cys124Ser) c.317G>C (p.Cys106Ser) | |
X | g.48511424G>T | CA412842182 | PORCN | c.266G>T (p.Cys89Phe) n.425G>T n.448G>T c.195G>T (p.Leu65=) c.131G>T (p.Cys44Phe) c.137-468G>T (n.137-468G>T) c.387G>T (p.Leu129=) n.305G>T c.53G>T (p.Cys18Phe) c.605G>T (p.Cys202Phe) c.518G>T (p.Cys173Phe) c.371G>T (p.Cys124Phe) c.317G>T (p.Cys106Phe) | |
X | g.48511425C>A | CA412842183 | PORCN | c.267C>A (p.Cys89Ter) n.426C>A n.449C>A c.196C>A (p.Pro66Thr) c.132C>A (p.Cys44Ter) c.137-467C>A (n.137-467C>A) c.388C>A (p.Pro130Thr) n.306C>A c.54C>A (p.Cys18Ter) c.606C>A (p.Cys202Ter) c.519C>A (p.Cys173Ter) c.372C>A (p.Cys124Ter) c.318C>A (p.Cys106Ter) | |
X | g.48511425C>G | CA412842184 | PORCN | c.267C>G (p.Cys89Trp) n.426C>G n.449C>G c.196C>G (p.Pro66Ala) c.132C>G (p.Cys44Trp) c.137-467C>G (n.137-467C>G) c.388C>G (p.Pro130Ala) n.306C>G c.54C>G (p.Cys18Trp) c.606C>G (p.Cys202Trp) c.519C>G (p.Cys173Trp) c.372C>G (p.Cys124Trp) c.318C>G (p.Cys106Trp) | |
X | g.48511425C>T | CA516010236 | PORCN | c.267C>T (p.Cys89=) n.426C>T n.449C>T c.196C>T (p.Pro66Ser) c.132C>T (p.Cys44=) c.137-467C>T (n.137-467C>T) c.388C>T (p.Pro130Ser) n.306C>T c.54C>T (p.Cys18=) c.606C>T (p.Cys202=) c.519C>T (p.Cys173=) c.372C>T (p.Cys124=) c.318C>T (p.Cys106=) | |
X | g.48511426C>A | CA516010237 | PORCN | c.268C>A (p.Arg90=) n.427C>A n.450C>A c.197C>A (p.Pro66Gln) c.133C>A (p.Arg45=) c.137-466C>A (n.137-466C>A) c.389C>A (p.Pro130Gln) n.307C>A c.55C>A (p.Arg19=) c.607C>A (p.Arg203=) c.520C>A (p.Arg174=) c.373C>A (p.Arg125=) c.319C>A (p.Arg107=) | |
X | g.48511426C= | CA2428293315 | PORCN | c.268C= (p.Arg90=) n.427C= n.450C= c.197C= (p.Pro66=) c.133C= (p.Arg45=) c.137-466C= (n.137-466C=) c.389C= (p.Pro130=) n.307C= c.55C= (p.Arg19=) c.607C= (p.Arg203=) c.520C= (p.Arg174=) c.373C= (p.Arg125=) c.319C= (p.Arg107=) | |
X | g.48511426C>G | CA412842185 | PORCN | c.268C>G (p.Arg90Gly) n.427C>G n.450C>G c.197C>G (p.Pro66Arg) c.133C>G (p.Arg45Gly) c.137-466C>G (n.137-466C>G) c.389C>G (p.Pro130Arg) n.307C>G c.55C>G (p.Arg19Gly) c.607C>G (p.Arg203Gly) c.520C>G (p.Arg174Gly) c.373C>G (p.Arg125Gly) c.319C>G (p.Arg107Gly) | |
X | g.48511426C>T | CA412842186 | PORCN | c.268C>T (p.Arg90Ter) n.427C>T n.450C>T c.197C>T (p.Pro66Leu) c.133C>T (p.Arg45Ter) c.137-466C>T (n.137-466C>T) c.389C>T (p.Pro130Leu) n.307C>T c.55C>T (p.Arg19Ter) c.607C>T (p.Arg203Ter) c.520C>T (p.Arg174Ter) c.373C>T (p.Arg125Ter) c.319C>T (p.Arg107Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.48511427G>A | CA10402718 | PORCN | c.269G>A (p.Arg90Gln) n.428G>A n.451G>A c.198G>A (p.Pro66=) c.134G>A (p.Arg45Gln) c.137-465G>A (n.137-465G>A) c.390G>A (p.Pro130=) n.308G>A c.56G>A (p.Arg19Gln) c.608G>A (p.Arg203Gln) c.521G>A (p.Arg174Gln) c.374G>A (p.Arg125Gln) c.320G>A (p.Arg107Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.48511427G>C | CA412842188 | PORCN | c.269G>C (p.Arg90Pro) n.428G>C n.451G>C c.198G>C (p.Pro66=) c.134G>C (p.Arg45Pro) c.137-465G>C (n.137-465G>C) c.390G>C (p.Pro130=) n.308G>C c.56G>C (p.Arg19Pro) c.608G>C (p.Arg203Pro) c.521G>C (p.Arg174Pro) c.374G>C (p.Arg125Pro) c.320G>C (p.Arg107Pro) | |
X | g.48511427G= | CA2428293316 | PORCN | c.269G= (p.Arg90=) n.428G= n.451G= c.198G= (p.Pro66=) c.134G= (p.Arg45=) c.137-465G= (n.137-465G=) c.390G= (p.Pro130=) n.308G= c.56G= (p.Arg19=) c.608G= (p.Arg203=) c.521G= (p.Arg174=) c.374G= (p.Arg125=) c.320G= (p.Arg107=) | |
X | g.48511427G>T | CA412842190 | PORCN | c.269G>T (p.Arg90Leu) n.428G>T n.451G>T c.198G>T (p.Pro66=) c.134G>T (p.Arg45Leu) c.137-465G>T (n.137-465G>T) c.390G>T (p.Pro130=) n.308G>T c.56G>T (p.Arg19Leu) c.608G>T (p.Arg203Leu) c.521G>T (p.Arg174Leu) c.374G>T (p.Arg125Leu) c.320G>T (p.Arg107Leu) | |
X | g.48511428A>C | CA516010242 | PORCN | c.270A>C (p.Arg90=) n.429A>C n.452A>C c.199A>C (p.Thr67Pro) c.135A>C (p.Arg45=) c.137-464A>C (n.137-464A>C) c.391A>C (p.Thr131Pro) n.309A>C c.57A>C (p.Arg19=) c.609A>C (p.Arg203=) c.522A>C (p.Arg174=) c.375A>C (p.Arg125=) c.321A>C (p.Arg107=) | |
X | g.48511428A>G | CA516010243 | PORCN | c.270A>G (p.Arg90=) n.429A>G n.452A>G c.199A>G (p.Thr67Ala) c.135A>G (p.Arg45=) c.137-464A>G (n.137-464A>G) c.391A>G (p.Thr131Ala) n.309A>G c.57A>G (p.Arg19=) c.609A>G (p.Arg203=) c.522A>G (p.Arg174=) c.375A>G (p.Arg125=) c.321A>G (p.Arg107=) | gnomAD v4 |
X | g.48511428A>T | CA516010241 | PORCN | c.270A>T (p.Arg90=) n.429A>T n.452A>T c.199A>T (p.Thr67Ser) c.135A>T (p.Arg45=) c.137-464A>T (n.137-464A>T) c.391A>T (p.Thr131Ser) n.309A>T c.57A>T (p.Arg19=) c.609A>T (p.Arg203=) c.522A>T (p.Arg174=) c.375A>T (p.Arg125=) c.321A>T (p.Arg107=) | |
X | g.48511429C>A | CA412842192 | PORCN | c.271C>A (p.His91Asn) n.430C>A n.453C>A c.200C>A (p.Thr67Lys) c.136C>A (p.His46Asn) c.137-463C>A (n.137-463C>A) c.392C>A (p.Thr131Lys) n.310C>A c.58C>A (p.His20Asn) c.610C>A (p.His204Asn) c.523C>A (p.His175Asn) c.376C>A (p.His126Asn) c.322C>A (p.His108Asn) | |
X | g.48511429C>G | CA412842194 | PORCN | c.271C>G (p.His91Asp) n.430C>G n.453C>G c.200C>G (p.Thr67Arg) c.136C>G (p.His46Asp) c.137-463C>G (n.137-463C>G) c.392C>G (p.Thr131Arg) n.310C>G c.58C>G (p.His20Asp) c.610C>G (p.His204Asp) c.523C>G (p.His175Asp) c.376C>G (p.His126Asp) c.322C>G (p.His108Asp) | |
X | g.48511429C>T | CA412842196 | PORCN | c.271C>T (p.His91Tyr) n.430C>T n.453C>T c.200C>T (p.Thr67Ile) c.136C>T (p.His46Tyr) c.137-463C>T (n.137-463C>T) c.392C>T (p.Thr131Ile) n.310C>T c.58C>T (p.His20Tyr) c.610C>T (p.His204Tyr) c.523C>T (p.His175Tyr) c.376C>T (p.His126Tyr) c.322C>T (p.His108Tyr) | |
X | g.48511430A>C | CA412842197 | PORCN | c.272A>C (p.His91Pro) n.431A>C n.454A>C c.201A>C (p.Thr67=) c.137A>C (p.His46Pro) c.137-462A>C (n.137-462A>C) c.393A>C (p.Thr131=) n.311A>C c.59A>C (p.His20Pro) c.611A>C (p.His204Pro) c.524A>C (p.His175Pro) c.377A>C (p.His126Pro) c.323A>C (p.His108Pro) | |
X | g.48511430A>G | CA412842198 | PORCN | c.272A>G (p.His91Arg) n.431A>G n.454A>G c.201A>G (p.Thr67=) c.137A>G (p.His46Arg) c.137-462A>G (n.137-462A>G) c.393A>G (p.Thr131=) n.311A>G c.59A>G (p.His20Arg) c.611A>G (p.His204Arg) c.524A>G (p.His175Arg) c.377A>G (p.His126Arg) c.323A>G (p.His108Arg) | gnomAD v4 |
X | g.48511430A>T | CA412842200 | PORCN | c.272A>T (p.His91Leu) n.431A>T n.454A>T c.201A>T (p.Thr67=) c.137A>T (p.His46Leu) c.137-462A>T (n.137-462A>T) c.393A>T (p.Thr131=) n.311A>T c.59A>T (p.His20Leu) c.611A>T (p.His204Leu) c.524A>T (p.His175Leu) c.377A>T (p.His126Leu) c.323A>T (p.His108Leu) | |
X | g.48511431T>A | CA412842202 | PORCN | c.273T>A (p.His91Gln) n.432T>A n.455T>A c.202T>A (p.Phe68Ile) c.138T>A (p.His46Gln) c.137-461T>A (n.137-461T>A) c.394T>A (p.Phe132Ile) n.312T>A c.60T>A (p.His20Gln) c.612T>A (p.His204Gln) c.525T>A (p.His175Gln) c.378T>A (p.His126Gln) c.324T>A (p.His108Gln) | |
X | g.48511431T>C | CA516010244 | PORCN | c.273T>C (p.His91=) n.432T>C n.455T>C c.202T>C (p.Phe68Leu) c.138T>C (p.His46=) c.137-461T>C (n.137-461T>C) c.394T>C (p.Phe132Leu) n.312T>C c.60T>C (p.His20=) c.612T>C (p.His204=) c.525T>C (p.His175=) c.378T>C (p.His126=) c.324T>C (p.His108=) | COSMIC |
X | g.48511431T>G | CA412842203 | PORCN | c.273T>G (p.His91Gln) n.432T>G n.455T>G c.202T>G (p.Phe68Val) c.138T>G (p.His46Gln) c.137-461T>G (n.137-461T>G) c.394T>G (p.Phe132Val) n.312T>G c.60T>G (p.His20Gln) c.612T>G (p.His204Gln) c.525T>G (p.His175Gln) c.378T>G (p.His126Gln) c.324T>G (p.His108Gln) | |
X | g.48511432T>A | CA412842208 | PORCN | c.274T>A (p.Ser92Thr) n.433T>A n.456T>A c.203T>A (p.Phe68Tyr) c.139T>A (p.Ser47Thr) c.137-460T>A (n.137-460T>A) c.395T>A (p.Phe132Tyr) n.313T>A c.61T>A (p.Ser21Thr) c.613T>A (p.Ser205Thr) c.526T>A (p.Ser176Thr) c.379T>A (p.Ser127Thr) c.325T>A (p.Ser109Thr) | |
X | g.48511432T>C | CA412842206 | PORCN | c.274T>C (p.Ser92Pro) n.433T>C n.456T>C c.203T>C (p.Phe68Ser) c.139T>C (p.Ser47Pro) c.137-460T>C (n.137-460T>C) c.395T>C (p.Phe132Ser) n.313T>C c.61T>C (p.Ser21Pro) c.613T>C (p.Ser205Pro) c.526T>C (p.Ser176Pro) c.379T>C (p.Ser127Pro) c.325T>C (p.Ser109Pro) | |
X | g.48511432T>G | CA412842204 | PORCN | c.274T>G (p.Ser92Ala) n.433T>G n.456T>G c.203T>G (p.Phe68Cys) c.139T>G (p.Ser47Ala) c.137-460T>G (n.137-460T>G) c.395T>G (p.Phe132Cys) n.313T>G c.61T>G (p.Ser21Ala) c.613T>G (p.Ser205Ala) c.526T>G (p.Ser176Ala) c.379T>G (p.Ser127Ala) c.325T>G (p.Ser109Ala) | |
X | g.48511433C>A | CA412842210 | PORCN | c.275C>A (p.Ser92Tyr) n.434C>A n.457C>A c.204C>A (p.Phe68Leu) c.140C>A (p.Ser47Tyr) c.137-459C>A (n.137-459C>A) c.396C>A (p.Phe132Leu) n.314C>A c.62C>A (p.Ser21Tyr) c.614C>A (p.Ser205Tyr) c.527C>A (p.Ser176Tyr) c.380C>A (p.Ser127Tyr) c.326C>A (p.Ser109Tyr) | |
X | g.48511433C= | CA2428293317 | PORCN | c.275C= (p.Ser92=) n.434C= n.457C= c.204C= (p.Phe68=) c.140C= (p.Ser47=) c.137-459C= (n.137-459C=) c.396C= (p.Phe132=) n.314C= c.62C= (p.Ser21=) c.614C= (p.Ser205=) c.527C= (p.Ser176=) c.380C= (p.Ser127=) c.326C= (p.Ser109=) | |
X | g.48511433C>G | CA412842213 | PORCN | c.275C>G (p.Ser92Cys) n.434C>G n.457C>G c.204C>G (p.Phe68Leu) c.140C>G (p.Ser47Cys) c.137-459C>G (n.137-459C>G) c.396C>G (p.Phe132Leu) n.314C>G c.62C>G (p.Ser21Cys) c.614C>G (p.Ser205Cys) c.527C>G (p.Ser176Cys) c.380C>G (p.Ser127Cys) c.326C>G (p.Ser109Cys) | |
X | g.48511433C>T | CA412842211 | PORCN | c.275C>T (p.Ser92Phe) n.434C>T n.457C>T c.204C>T (p.Phe68=) c.140C>T (p.Ser47Phe) c.137-459C>T (n.137-459C>T) c.396C>T (p.Phe132=) n.314C>T c.62C>T (p.Ser21Phe) c.614C>T (p.Ser205Phe) c.527C>T (p.Ser176Phe) c.380C>T (p.Ser127Phe) c.326C>T (p.Ser109Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48511434C>A | CA516010249 | PORCN | c.276C>A (p.Ser92=) n.435C>A n.458C>A c.205C>A (p.Leu69Ile) c.141C>A (p.Ser47=) c.137-458C>A (n.137-458C>A) c.397C>A (p.Leu133Ile) n.315C>A c.63C>A (p.Ser21=) c.615C>A (p.Ser205=) c.528C>A (p.Ser176=) c.381C>A (p.Ser127=) c.327C>A (p.Ser109=) | |
X | g.48511434C>G | CA516010250 | PORCN | c.276C>G (p.Ser92=) n.435C>G n.458C>G c.205C>G (p.Leu69Val) c.141C>G (p.Ser47=) c.137-458C>G (n.137-458C>G) c.397C>G (p.Leu133Val) n.315C>G c.63C>G (p.Ser21=) c.615C>G (p.Ser205=) c.528C>G (p.Ser176=) c.381C>G (p.Ser127=) c.327C>G (p.Ser109=) | |
X | g.48511434C>T | CA516010251 | PORCN | c.276C>T (p.Ser92=) n.435C>T n.458C>T c.205C>T (p.Leu69Phe) c.141C>T (p.Ser47=) c.137-458C>T (n.137-458C>T) c.397C>T (p.Leu133Phe) n.315C>T c.63C>T (p.Ser21=) c.615C>T (p.Ser205=) c.528C>T (p.Ser176=) c.381C>T (p.Ser127=) c.327C>T (p.Ser109=) | |
X | g.48511435T>A | CA412842215 | PORCN | c.277T>A (p.Ser93Thr) n.436T>A n.459T>A c.206T>A (p.Leu69His) c.142T>A (p.Ser48Thr) c.137-457T>A (n.137-457T>A) c.398T>A (p.Leu133His) n.316T>A c.64T>A (p.Ser22Thr) c.616T>A (p.Ser206Thr) c.529T>A (p.Ser177Thr) c.382T>A (p.Ser128Thr) c.328T>A (p.Ser110Thr) | |
X | g.48511435T>C | CA412842218 | PORCN | c.277T>C (p.Ser93Pro) n.436T>C n.459T>C c.206T>C (p.Leu69Pro) c.142T>C (p.Ser48Pro) c.137-457T>C (n.137-457T>C) c.398T>C (p.Leu133Pro) n.316T>C c.64T>C (p.Ser22Pro) c.616T>C (p.Ser206Pro) c.529T>C (p.Ser177Pro) c.382T>C (p.Ser128Pro) c.328T>C (p.Ser110Pro) | |
X | g.48511435T>G | CA412842217 | PORCN | c.277T>G (p.Ser93Ala) n.436T>G n.459T>G c.206T>G (p.Leu69Arg) c.142T>G (p.Ser48Ala) c.137-457T>G (n.137-457T>G) c.398T>G (p.Leu133Arg) n.316T>G c.64T>G (p.Ser22Ala) c.616T>G (p.Ser206Ala) c.529T>G (p.Ser177Ala) c.382T>G (p.Ser128Ala) c.328T>G (p.Ser110Ala) | |
X | g.48511436C>A | CA412842220 | PORCN | c.278C>A (p.Ser93Tyr) n.437C>A n.460C>A c.207C>A (p.Leu69=) c.143C>A (p.Ser48Tyr) c.137-456C>A (n.137-456C>A) c.399C>A (p.Leu133=) n.317C>A c.65C>A (p.Ser22Tyr) c.617C>A (p.Ser206Tyr) c.530C>A (p.Ser177Tyr) c.383C>A (p.Ser128Tyr) c.329C>A (p.Ser110Tyr) | |
X | g.48511436C>G | CA412842222 | PORCN | c.278C>G (p.Ser93Cys) n.437C>G n.460C>G c.207C>G (p.Leu69=) c.143C>G (p.Ser48Cys) c.137-456C>G (n.137-456C>G) c.399C>G (p.Leu133=) n.317C>G c.65C>G (p.Ser22Cys) c.617C>G (p.Ser206Cys) c.530C>G (p.Ser177Cys) c.383C>G (p.Ser128Cys) c.329C>G (p.Ser110Cys) | |
X | g.48511436C>T | CA412842224 | PORCN | c.278C>T (p.Ser93Phe) n.437C>T n.460C>T c.207C>T (p.Leu69=) c.143C>T (p.Ser48Phe) c.137-456C>T (n.137-456C>T) c.399C>T (p.Leu133=) n.317C>T c.65C>T (p.Ser22Phe) c.617C>T (p.Ser206Phe) c.530C>T (p.Ser177Phe) c.383C>T (p.Ser128Phe) c.329C>T (p.Ser110Phe) | |
X | g.48511437C>A | CA516010255 | PORCN | c.279C>A (p.Ser93=) n.438C>A n.461C>A c.208C>A (p.Pro70Thr) c.144C>A (p.Ser48=) c.137-455C>A (n.137-455C>A) c.400C>A (p.Pro134Thr) n.318C>A c.66C>A (p.Ser22=) c.618C>A (p.Ser206=) c.531C>A (p.Ser177=) c.384C>A (p.Ser128=) c.330C>A (p.Ser110=) | |
X | g.48511437C= | CA2428293318 | PORCN | c.279C= (p.Ser93=) n.438C= n.461C= c.208C= (p.Pro70=) c.144C= (p.Ser48=) c.137-455C= (n.137-455C=) c.400C= (p.Pro134=) n.318C= c.66C= (p.Ser22=) c.618C= (p.Ser206=) c.531C= (p.Ser177=) c.384C= (p.Ser128=) c.330C= (p.Ser110=) | |
X | g.48511437C>G | CA516010256 | PORCN | c.279C>G (p.Ser93=) n.438C>G n.461C>G c.208C>G (p.Pro70Ala) c.144C>G (p.Ser48=) c.137-455C>G (n.137-455C>G) c.400C>G (p.Pro134Ala) n.318C>G c.66C>G (p.Ser22=) c.618C>G (p.Ser206=) c.531C>G (p.Ser177=) c.384C>G (p.Ser128=) c.330C>G (p.Ser110=) | |
X | g.48511437C>T | CA516010258 | PORCN | c.279C>T (p.Ser93=) n.438C>T n.461C>T c.208C>T (p.Pro70Ser) c.144C>T (p.Ser48=) c.137-455C>T (n.137-455C>T) c.400C>T (p.Pro134Ser) n.318C>T c.66C>T (p.Ser22=) c.618C>T (p.Ser206=) c.531C>T (p.Ser177=) c.384C>T (p.Ser128=) c.330C>T (p.Ser110=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48511438C>A | CA412842225 | PORCN | c.280C>A (p.His94Asn) n.439C>A n.462C>A c.209C>A (p.Pro70Gln) c.145C>A (p.His49Asn) c.137-454C>A (n.137-454C>A) c.401C>A (p.Pro134Gln) n.319C>A c.67C>A (p.His23Asn) c.619C>A (p.His207Asn) c.532C>A (p.His178Asn) c.385C>A (p.His129Asn) c.331C>A (p.His111Asn) | |
X | g.48511438C>G | CA412842227 | PORCN | c.280C>G (p.His94Asp) n.439C>G n.462C>G c.209C>G (p.Pro70Arg) c.145C>G (p.His49Asp) c.137-454C>G (n.137-454C>G) c.401C>G (p.Pro134Arg) n.319C>G c.67C>G (p.His23Asp) c.619C>G (p.His207Asp) c.532C>G (p.His178Asp) c.385C>G (p.His129Asp) c.331C>G (p.His111Asp) | |
X | g.48511438C>T | CA412842229 | PORCN | c.280C>T (p.His94Tyr) n.439C>T n.462C>T c.209C>T (p.Pro70Leu) c.145C>T (p.His49Tyr) c.137-454C>T (n.137-454C>T) c.401C>T (p.Pro134Leu) n.319C>T c.67C>T (p.His23Tyr) c.619C>T (p.His207Tyr) c.532C>T (p.His178Tyr) c.385C>T (p.His129Tyr) c.331C>T (p.His111Tyr) | |
X | g.48511439A= | CA2428293319 | PORCN | c.281A= (p.His94=) n.440A= n.463A= c.210A= (p.Pro70=) c.146A= (p.His49=) c.137-453A= (n.137-453A=) c.402A= (p.Pro134=) n.320A= c.68A= (p.His23=) c.620A= (p.His207=) c.533A= (p.His178=) c.386A= (p.His129=) c.332A= (p.His111=) | |
X | g.48511439A>C | CA412843096 | PORCN | c.281A>C (p.His94Pro) n.440A>C n.463A>C c.210A>C (p.Pro70=) c.146A>C (p.His49Pro) c.137-453A>C (n.137-453A>C) c.402A>C (p.Pro134=) n.320A>C c.68A>C (p.His23Pro) c.620A>C (p.His207Pro) c.533A>C (p.His178Pro) c.386A>C (p.His129Pro) c.332A>C (p.His111Pro) | |
X | g.48511439A>G | CA412843098 | PORCN | c.281A>G (p.His94Arg) n.440A>G n.463A>G c.210A>G (p.Pro70=) c.146A>G (p.His49Arg) c.137-453A>G (n.137-453A>G) c.402A>G (p.Pro134=) n.320A>G c.68A>G (p.His23Arg) c.620A>G (p.His207Arg) c.533A>G (p.His178Arg) c.386A>G (p.His129Arg) c.332A>G (p.His111Arg) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48511439A>T | CA412843100 | PORCN | c.281A>T (p.His94Leu) n.440A>T n.463A>T c.210A>T (p.Pro70=) c.146A>T (p.His49Leu) c.137-453A>T (n.137-453A>T) c.402A>T (p.Pro134=) n.320A>T c.68A>T (p.His23Leu) c.620A>T (p.His207Leu) c.533A>T (p.His178Leu) c.386A>T (p.His129Leu) c.332A>T (p.His111Leu) | |
X | g.48511440T>A | CA412843103 | PORCN | c.282T>A (p.His94Gln) n.441T>A n.464T>A c.211T>A (p.Ser71Thr) c.147T>A (p.His49Gln) c.137-452T>A (n.137-452T>A) c.403T>A (p.Ser135Thr) n.321T>A c.69T>A (p.His23Gln) c.621T>A (p.His207Gln) c.534T>A (p.His178Gln) c.387T>A (p.His129Gln) c.333T>A (p.His111Gln) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48511440T>C | CA516010489 | PORCN | c.282T>C (p.His94=) n.441T>C n.464T>C c.211T>C (p.Ser71Pro) c.147T>C (p.His49=) c.137-452T>C (n.137-452T>C) c.403T>C (p.Ser135Pro) n.321T>C c.69T>C (p.His23=) c.621T>C (p.His207=) c.534T>C (p.His178=) c.387T>C (p.His129=) c.333T>C (p.His111=) | |
X | g.48511440T>G | CA412843104 | PORCN | c.282T>G (p.His94Gln) n.441T>G n.464T>G c.211T>G (p.Ser71Ala) c.147T>G (p.His49Gln) c.137-452T>G (n.137-452T>G) c.403T>G (p.Ser135Ala) n.321T>G c.69T>G (p.His23Gln) c.621T>G (p.His207Gln) c.534T>G (p.His178Gln) c.387T>G (p.His129Gln) c.333T>G (p.His111Gln) | |
X | g.48511440T= | CA2428293320 | PORCN | c.282T= (p.His94=) n.441T= n.464T= c.211T= (p.Ser71=) c.147T= (p.His49=) c.137-452T= (n.137-452T=) c.403T= (p.Ser135=) n.321T= c.69T= (p.His23=) c.621T= (p.His207=) c.534T= (p.His178=) c.387T= (p.His129=) c.333T= (p.His111=) | |
X | g.48511441C>A | CA516010492 | PORCN | c.283C>A (p.Arg95=) n.442C>A n.465C>A c.212C>A (p.Ser71Ter) c.148C>A (p.Arg50=) c.137-451C>A (n.137-451C>A) c.404C>A (p.Ser135Ter) n.322C>A c.70C>A (p.Arg24=) c.622C>A (p.Arg208=) c.535C>A (p.Arg179=) c.388C>A (p.Arg130=) c.334C>A (p.Arg112=) | |
X | g.48511441C= | CA2428293321 | PORCN | c.283C= (p.Arg95=) n.442C= n.465C= c.212C= (p.Ser71=) c.148C= (p.Arg50=) c.137-451C= (n.137-451C=) c.404C= (p.Ser135=) n.322C= c.70C= (p.Arg24=) c.622C= (p.Arg208=) c.535C= (p.Arg179=) c.388C= (p.Arg130=) c.334C= (p.Arg112=) | |
X | g.48511441C>G | CA412843107 | PORCN | c.283C>G (p.Arg95Gly) n.442C>G n.465C>G c.212C>G (p.Ser71Trp) c.148C>G (p.Arg50Gly) c.137-451C>G (n.137-451C>G) c.404C>G (p.Ser135Trp) n.322C>G c.70C>G (p.Arg24Gly) c.622C>G (p.Arg208Gly) c.535C>G (p.Arg179Gly) c.388C>G (p.Arg130Gly) c.334C>G (p.Arg112Gly) | |
X | g.48511441C>T | CA412843109 | PORCN | c.283C>T (p.Arg95Ter) n.442C>T n.465C>T c.212C>T (p.Ser71Leu) c.148C>T (p.Arg50Ter) c.137-451C>T (n.137-451C>T) c.404C>T (p.Ser135Leu) n.322C>T c.70C>T (p.Arg24Ter) c.622C>T (p.Arg208Ter) c.535C>T (p.Arg179Ter) c.388C>T (p.Arg130Ter) c.334C>T (p.Arg112Ter) | ClinVar dbSNP |
X | g.48511442G>A | CA10402719 | PORCN | c.284G>A (p.Arg95Gln) n.443G>A n.466G>A c.213G>A (p.Ser71=) c.149G>A (p.Arg50Gln) c.137-450G>A (n.137-450G>A) c.405G>A (p.Ser135=) n.323G>A c.71G>A (p.Arg24Gln) c.623G>A (p.Arg208Gln) c.536G>A (p.Arg179Gln) c.389G>A (p.Arg130Gln) c.335G>A (p.Arg112Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48511442G>C | CA412843115 | PORCN | c.284G>C (p.Arg95Pro) n.443G>C n.466G>C c.213G>C (p.Ser71=) c.149G>C (p.Arg50Pro) c.137-450G>C (n.137-450G>C) c.405G>C (p.Ser135=) n.323G>C c.71G>C (p.Arg24Pro) c.623G>C (p.Arg208Pro) c.536G>C (p.Arg179Pro) c.389G>C (p.Arg130Pro) c.335G>C (p.Arg112Pro) | gnomAD v4 |
X | g.48511442G= | CA2428293322 | PORCN | c.284G= (p.Arg95=) n.443G= n.466G= c.213G= (p.Ser71=) c.149G= (p.Arg50=) c.137-450G= (n.137-450G=) c.405G= (p.Ser135=) n.323G= c.71G= (p.Arg24=) c.623G= (p.Arg208=) c.536G= (p.Arg179=) c.389G= (p.Arg130=) c.335G= (p.Arg112=) | |
X | g.48511442G>T | CA412843113 | PORCN | c.284G>T (p.Arg95Leu) n.443G>T n.466G>T c.213G>T (p.Ser71=) c.149G>T (p.Arg50Leu) c.137-450G>T (n.137-450G>T) c.405G>T (p.Ser135=) n.323G>T c.71G>T (p.Arg24Leu) c.623G>T (p.Arg208Leu) c.536G>T (p.Arg179Leu) c.389G>T (p.Arg130Leu) c.335G>T (p.Arg112Leu) | |
X | g.48511443A>C | CA516010499 | PORCN | c.285A>C (p.Arg95=) n.444A>C n.467A>C c.214A>C (p.Arg72=) c.150A>C (p.Arg50=) c.137-449A>C (n.137-449A>C) c.406A>C (p.Arg136=) n.324A>C c.72A>C (p.Arg24=) c.624A>C (p.Arg208=) c.537A>C (p.Arg179=) c.390A>C (p.Arg130=) c.336A>C (p.Arg112=) | |
X | g.48511443A>G | CA516010501 | PORCN | c.285A>G (p.Arg95=) n.444A>G n.467A>G c.214A>G (p.Arg72Gly) c.150A>G (p.Arg50=) c.137-449A>G (n.137-449A>G) c.406A>G (p.Arg136Gly) n.324A>G c.72A>G (p.Arg24=) c.624A>G (p.Arg208=) c.537A>G (p.Arg179=) c.390A>G (p.Arg130=) c.336A>G (p.Arg112=) | |
X | g.48511443A>T | CA516010503 | PORCN | c.285A>T (p.Arg95=) n.444A>T n.467A>T c.214A>T (p.Arg72Trp) c.150A>T (p.Arg50=) c.137-449A>T (n.137-449A>T) c.406A>T (p.Arg136Trp) n.324A>T c.72A>T (p.Arg24=) c.624A>T (p.Arg208=) c.537A>T (p.Arg179=) c.390A>T (p.Arg130=) c.336A>T (p.Arg112=) | |
X | g.48511444G>A | CA412843117 | PORCN | c.286G>A (p.Gly96Ser) n.445G>A n.468G>A c.215G>A (p.Arg72Lys) c.151G>A (p.Gly51Ser) c.137-448G>A (n.137-448G>A) c.407G>A (p.Arg136Lys) n.325G>A c.73G>A (p.Gly25Ser) c.625G>A (p.Gly209Ser) c.538G>A (p.Gly180Ser) c.391G>A (p.Gly131Ser) c.337G>A (p.Gly113Ser) | |
X | g.48511444G>C | CA412843119 | PORCN | c.286G>C (p.Gly96Arg) n.445G>C n.468G>C c.215G>C (p.Arg72Thr) c.151G>C (p.Gly51Arg) c.137-448G>C (n.137-448G>C) c.407G>C (p.Arg136Thr) n.325G>C c.73G>C (p.Gly25Arg) c.625G>C (p.Gly209Arg) c.538G>C (p.Gly180Arg) c.391G>C (p.Gly131Arg) c.337G>C (p.Gly113Arg) | |
X | g.48511444G>T | CA412843121 | PORCN | c.286G>T (p.Gly96Cys) n.445G>T n.468G>T c.215G>T (p.Arg72Met) c.151G>T (p.Gly51Cys) c.137-448G>T (n.137-448G>T) c.407G>T (p.Arg136Met) n.325G>T c.73G>T (p.Gly25Cys) c.625G>T (p.Gly209Cys) c.538G>T (p.Gly180Cys) c.391G>T (p.Gly131Cys) c.337G>T (p.Gly113Cys) | |
X | g.48511445G>A | CA412843124 | PORCN | c.287G>A (p.Gly96Asp) n.446G>A n.469G>A c.216G>A (p.Arg72=) c.152G>A (p.Gly51Asp) c.137-447G>A (n.137-447G>A) c.408G>A (p.Arg136=) n.326G>A c.74G>A (p.Gly25Asp) c.626G>A (p.Gly209Asp) c.539G>A (p.Gly180Asp) c.392G>A (p.Gly131Asp) c.338G>A (p.Gly113Asp) | |
X | g.48511445G>C | CA412843126 | PORCN | c.287G>C (p.Gly96Ala) n.446G>C n.469G>C c.216G>C (p.Arg72Ser) c.152G>C (p.Gly51Ala) c.137-447G>C (n.137-447G>C) c.408G>C (p.Arg136Ser) n.326G>C c.74G>C (p.Gly25Ala) c.626G>C (p.Gly209Ala) c.539G>C (p.Gly180Ala) c.392G>C (p.Gly131Ala) c.338G>C (p.Gly113Ala) | |
X | g.48511445G>T | CA412843128 | PORCN | c.287G>T (p.Gly96Val) n.446G>T n.469G>T c.216G>T (p.Arg72Ser) c.152G>T (p.Gly51Val) c.137-447G>T (n.137-447G>T) c.408G>T (p.Arg136Ser) n.326G>T c.74G>T (p.Gly25Val) c.626G>T (p.Gly209Val) c.539G>T (p.Gly180Val) c.392G>T (p.Gly131Val) c.338G>T (p.Gly113Val) | |
X | g.48511446C>A | CA516010513 | PORCN | c.288C>A (p.Gly96=) n.447C>A n.470C>A c.217C>A (p.Arg73Ser) c.153C>A (p.Gly51=) c.137-446C>A (n.137-446C>A) c.409C>A (p.Arg137Ser) n.327C>A c.75C>A (p.Gly25=) c.627C>A (p.Gly209=) c.540C>A (p.Gly180=) c.393C>A (p.Gly131=) c.339C>A (p.Gly113=) | |
X | g.48511446C= | CA2428293323 | PORCN | c.288C= (p.Gly96=) n.447C= n.470C= c.217C= (p.Arg73=) c.153C= (p.Gly51=) c.137-446C= (n.137-446C=) c.409C= (p.Arg137=) n.327C= c.75C= (p.Gly25=) c.627C= (p.Gly209=) c.540C= (p.Gly180=) c.393C= (p.Gly131=) c.339C= (p.Gly113=) | |
X | g.48511446C>G | CA516010511 | PORCN | c.288C>G (p.Gly96=) n.447C>G n.470C>G c.217C>G (p.Arg73Gly) c.153C>G (p.Gly51=) c.137-446C>G (n.137-446C>G) c.409C>G (p.Arg137Gly) n.327C>G c.75C>G (p.Gly25=) c.627C>G (p.Gly209=) c.540C>G (p.Gly180=) c.393C>G (p.Gly131=) c.339C>G (p.Gly113=) | gnomAD v4 |
X | g.48511446C>T | CA241868 | PORCN | c.288C>T (p.Gly96=) n.447C>T n.470C>T c.217C>T (p.Arg73Cys) c.153C>T (p.Gly51=) c.137-446C>T (n.137-446C>T) c.409C>T (p.Arg137Cys) n.327C>T c.75C>T (p.Gly25=) c.627C>T (p.Gly209=) c.540C>T (p.Gly180=) c.393C>T (p.Gly131=) c.339C>T (p.Gly113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48511447G>A | CA10402720 | PORCN | c.289G>A (p.Val97Ile) n.448G>A n.471G>A c.218G>A (p.Arg73His) c.154G>A (p.Val52Ile) c.137-445G>A (n.137-445G>A) c.410G>A (p.Arg137His) n.328G>A c.76G>A (p.Val26Ile) c.628G>A (p.Val210Ile) c.541G>A (p.Val181Ile) c.394G>A (p.Val132Ile) c.340G>A (p.Val114Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.48511447G>C | CA412843133 | PORCN | c.289G>C (p.Val97Leu) n.448G>C n.471G>C c.218G>C (p.Arg73Pro) c.154G>C (p.Val52Leu) c.137-445G>C (n.137-445G>C) c.410G>C (p.Arg137Pro) n.328G>C c.76G>C (p.Val26Leu) c.628G>C (p.Val210Leu) c.541G>C (p.Val181Leu) c.394G>C (p.Val132Leu) c.340G>C (p.Val114Leu) | |
X | g.48511447G= | CA2428293324 | PORCN | c.289G= (p.Val97=) n.448G= n.471G= c.218G= (p.Arg73=) c.154G= (p.Val52=) c.137-445G= (n.137-445G=) c.410G= (p.Arg137=) n.328G= c.76G= (p.Val26=) c.628G= (p.Val210=) c.541G= (p.Val181=) c.394G= (p.Val132=) c.340G= (p.Val114=) | |
X | g.48511447G>T | CA412843136 | PORCN | c.289G>T (p.Val97Phe) n.448G>T n.471G>T c.218G>T (p.Arg73Leu) c.154G>T (p.Val52Phe) c.137-445G>T (n.137-445G>T) c.410G>T (p.Arg137Leu) n.328G>T c.76G>T (p.Val26Phe) c.628G>T (p.Val210Phe) c.541G>T (p.Val181Phe) c.394G>T (p.Val132Phe) c.340G>T (p.Val114Phe) | gnomAD v4 |
X | g.48511448T>A | CA412843147 | PORCN | c.290T>A (p.Val97Asp) n.449T>A n.472T>A c.219T>A (p.Arg73=) c.155T>A (p.Val52Asp) c.137-444T>A (n.137-444T>A) c.411T>A (p.Arg137=) n.329T>A c.77T>A (p.Val26Asp) c.629T>A (p.Val210Asp) c.542T>A (p.Val181Asp) c.395T>A (p.Val132Asp) c.341T>A (p.Val114Asp) | |
X | g.48511448T>C | CA412843140 | PORCN | c.290T>C (p.Val97Ala) n.449T>C n.472T>C c.219T>C (p.Arg73=) c.155T>C (p.Val52Ala) c.137-444T>C (n.137-444T>C) c.411T>C (p.Arg137=) n.329T>C c.77T>C (p.Val26Ala) c.629T>C (p.Val210Ala) c.542T>C (p.Val181Ala) c.395T>C (p.Val132Ala) c.341T>C (p.Val114Ala) | |
X | g.48511448T>G | CA412843138 | PORCN | c.290T>G (p.Val97Gly) n.449T>G n.472T>G c.219T>G (p.Arg73=) c.155T>G (p.Val52Gly) c.137-444T>G (n.137-444T>G) c.411T>G (p.Arg137=) n.329T>G c.77T>G (p.Val26Gly) c.629T>G (p.Val210Gly) c.542T>G (p.Val181Gly) c.395T>G (p.Val132Gly) c.341T>G (p.Val114Gly) | |
X | g.48511449C>A | CA516010519 | PORCN | c.291C>A (p.Val97=) n.450C>A n.473C>A c.220C>A (p.Leu74Ile) c.156C>A (p.Val52=) c.137-443C>A (n.137-443C>A) c.412C>A (p.Leu138Ile) n.330C>A c.78C>A (p.Val26=) c.630C>A (p.Val210=) c.543C>A (p.Val181=) c.396C>A (p.Val132=) c.342C>A (p.Val114=) | |
X | g.48511449C>G | CA516010521 | PORCN | c.291C>G (p.Val97=) n.450C>G n.473C>G c.220C>G (p.Leu74Val) c.156C>G (p.Val52=) c.137-443C>G (n.137-443C>G) c.412C>G (p.Leu138Val) n.330C>G c.78C>G (p.Val26=) c.630C>G (p.Val210=) c.543C>G (p.Val181=) c.396C>G (p.Val132=) c.342C>G (p.Val114=) | dbSNP |
X | g.48511449C>T | CA516010523 | PORCN | c.291C>T (p.Val97=) n.450C>T n.473C>T c.220C>T (p.Leu74Phe) c.156C>T (p.Val52=) c.137-443C>T (n.137-443C>T) c.412C>T (p.Leu138Phe) n.330C>T c.78C>T (p.Val26=) c.630C>T (p.Val210=) c.543C>T (p.Val181=) c.396C>T (p.Val132=) c.342C>T (p.Val114=) | |
X | g.48511450T>A | CA412843154 | PORCN | c.292T>A (p.Phe98Ile) n.451T>A n.474T>A c.221T>A (p.Leu74His) c.157T>A (p.Phe53Ile) c.137-442T>A (n.137-442T>A) c.413T>A (p.Leu138His) c.292T>A n.331T>A c.79T>A (p.Phe27Ile) c.631T>A (p.Phe211Ile) c.544T>A (p.Phe182Ile) c.397T>A (p.Phe133Ile) c.343T>A (p.Phe115Ile) | |
X | g.48511450T>C | CA412843150 | PORCN | c.292T>C (p.Phe98Leu) n.451T>C n.474T>C c.221T>C (p.Leu74Pro) c.157T>C (p.Phe53Leu) c.137-442T>C (n.137-442T>C) c.413T>C (p.Leu138Pro) c.292T>C n.331T>C c.79T>C (p.Phe27Leu) c.631T>C (p.Phe211Leu) c.544T>C (p.Phe182Leu) c.397T>C (p.Phe133Leu) c.343T>C (p.Phe115Leu) | |
X | g.48511450T>G | CA412843152 | PORCN | c.292T>G (p.Phe98Val) n.451T>G n.474T>G c.221T>G (p.Leu74Arg) c.157T>G (p.Phe53Val) c.137-442T>G (n.137-442T>G) c.413T>G (p.Leu138Arg) c.292T>G n.331T>G c.79T>G (p.Phe27Val) c.631T>G (p.Phe211Val) c.544T>G (p.Phe182Val) c.397T>G (p.Phe133Val) c.343T>G (p.Phe115Val) | |
X | g.48511451T>A | CA412843157 | PORCN | c.293T>A (p.Phe98Tyr) n.452T>A n.475T>A c.222T>A (p.Leu74=) c.158T>A (p.Phe53Tyr) c.137-441T>A (n.137-441T>A) c.414T>A (p.Leu138=) c.293T>A n.332T>A c.80T>A (p.Phe27Tyr) c.632T>A (p.Phe211Tyr) c.545T>A (p.Phe182Tyr) c.398T>A (p.Phe133Tyr) c.344T>A (p.Phe115Tyr) | |
X | g.48511451T>C | CA412843160 | PORCN | c.293T>C (p.Phe98Ser) n.452T>C n.475T>C c.222T>C (p.Leu74=) c.158T>C (p.Phe53Ser) c.137-441T>C (n.137-441T>C) c.414T>C (p.Leu138=) c.293T>C n.332T>C c.80T>C (p.Phe27Ser) c.632T>C (p.Phe211Ser) c.545T>C (p.Phe182Ser) c.398T>C (p.Phe133Ser) c.344T>C (p.Phe115Ser) | |
X | g.48511451T>G | CA412843162 | PORCN | c.293T>G (p.Phe98Cys) n.452T>G n.475T>G c.222T>G (p.Leu74=) c.158T>G (p.Phe53Cys) c.137-441T>G (n.137-441T>G) c.414T>G (p.Leu138=) c.293T>G n.332T>G c.80T>G (p.Phe27Cys) c.632T>G (p.Phe211Cys) c.545T>G (p.Phe182Cys) c.398T>G (p.Phe133Cys) c.344T>G (p.Phe115Cys) | |
X | g.48511452C>A | CA412843164 | PORCN | c.294C>A (p.Phe98Leu) n.453C>A n.476C>A c.223C>A (p.Pro75Thr) c.159C>A (p.Phe53Leu) c.137-440C>A (n.137-440C>A) c.415C>A (p.Pro139Thr) n.333C>A c.81C>A (p.Phe27Leu) c.633C>A (p.Phe211Leu) c.546C>A (p.Phe182Leu) c.399C>A (p.Phe133Leu) c.345C>A (p.Phe115Leu) | |
X | g.48511452C>G | CA412843167 | PORCN | c.294C>G (p.Phe98Leu) n.453C>G n.476C>G c.223C>G (p.Pro75Ala) c.159C>G (p.Phe53Leu) c.137-440C>G (n.137-440C>G) c.415C>G (p.Pro139Ala) n.333C>G c.81C>G (p.Phe27Leu) c.633C>G (p.Phe211Leu) c.546C>G (p.Phe182Leu) c.399C>G (p.Phe133Leu) c.345C>G (p.Phe115Leu) | |
X | g.48511452C>T | CA516010531 | PORCN | c.294C>T (p.Phe98=) n.453C>T n.476C>T c.223C>T (p.Pro75Ser) c.159C>T (p.Phe53=) c.137-440C>T (n.137-440C>T) c.415C>T (p.Pro139Ser) n.333C>T c.81C>T (p.Phe27=) c.633C>T (p.Phe211=) c.546C>T (p.Phe182=) c.399C>T (p.Phe133=) c.345C>T (p.Phe115=) | |
X | g.48511453C>A | CA412843170 | PORCN | c.295C>A (p.Leu99Ile) n.454C>A n.477C>A c.224C>A (p.Pro75His) c.160C>A (p.Leu54Ile) c.137-439C>A (n.137-439C>A) c.416C>A (p.Pro139His) n.334C>A c.82C>A (p.Leu28Ile) c.634C>A (p.Leu212Ile) c.547C>A (p.Leu183Ile) c.400C>A (p.Leu134Ile) c.346C>A (p.Leu116Ile) | |
X | g.48511453C>G | CA412843172 | PORCN | c.295C>G (p.Leu99Val) n.454C>G n.477C>G c.224C>G (p.Pro75Arg) c.160C>G (p.Leu54Val) c.137-439C>G (n.137-439C>G) c.416C>G (p.Pro139Arg) n.334C>G c.82C>G (p.Leu28Val) c.634C>G (p.Leu212Val) c.547C>G (p.Leu183Val) c.400C>G (p.Leu134Val) c.346C>G (p.Leu116Val) | |
X | g.48511453C>T | CA516010537 | PORCN | c.295C>T (p.Leu99=) n.454C>T n.477C>T c.224C>T (p.Pro75Leu) c.160C>T (p.Leu54=) c.137-439C>T (n.137-439C>T) c.416C>T (p.Pro139Leu) n.334C>T c.82C>T (p.Leu28=) c.634C>T (p.Leu212=) c.547C>T (p.Leu183=) c.400C>T (p.Leu134=) c.346C>T (p.Leu116=) | |
X | g.48511454T>A | CA412843175 | PORCN | c.296T>A (p.Leu99Gln) n.455T>A n.478T>A c.225T>A (p.Pro75=) c.161T>A (p.Leu54Gln) c.137-438T>A (n.137-438T>A) c.417T>A (p.Pro139=) n.335T>A c.83T>A (p.Leu28Gln) c.635T>A (p.Leu212Gln) c.548T>A (p.Leu183Gln) c.401T>A (p.Leu134Gln) c.347T>A (p.Leu116Gln) | |
X | g.48511454T>C | CA412843176 | PORCN | c.296T>C (p.Leu99Pro) n.455T>C n.478T>C c.225T>C (p.Pro75=) c.161T>C (p.Leu54Pro) c.137-438T>C (n.137-438T>C) c.417T>C (p.Pro139=) n.335T>C c.83T>C (p.Leu28Pro) c.635T>C (p.Leu212Pro) c.548T>C (p.Leu183Pro) c.401T>C (p.Leu134Pro) c.347T>C (p.Leu116Pro) | |
X | g.48511454T>G | CA412843178 | PORCN | c.296T>G (p.Leu99Arg) n.455T>G n.478T>G c.225T>G (p.Pro75=) c.161T>G (p.Leu54Arg) c.137-438T>G (n.137-438T>G) c.417T>G (p.Pro139=) n.335T>G c.83T>G (p.Leu28Arg) c.635T>G (p.Leu212Arg) c.548T>G (p.Leu183Arg) c.401T>G (p.Leu134Arg) c.347T>G (p.Leu116Arg) | |
X | g.48511455A= | CA2428293325 | PORCN | c.297A= (p.Leu99=) n.456A= n.479A= c.226A= (p.Ile76=) c.162A= (p.Leu54=) c.137-437A= (n.137-437A=) c.418A= (p.Ile140=) n.336A= c.84A= (p.Leu28=) c.636A= (p.Leu212=) c.549A= (p.Leu183=) c.402A= (p.Leu134=) c.348A= (p.Leu116=) | |
X | g.48511455A>C | CA516010538 | PORCN | c.297A>C (p.Leu99=) n.456A>C n.479A>C c.226A>C (p.Ile76Leu) c.162A>C (p.Leu54=) c.137-437A>C (n.137-437A>C) c.418A>C (p.Ile140Leu) n.336A>C c.84A>C (p.Leu28=) c.636A>C (p.Leu212=) c.549A>C (p.Leu183=) c.402A>C (p.Leu134=) c.348A>C (p.Leu116=) | |
X | g.48511455A>G | CA329067839 | PORCN | c.297A>G (p.Leu99=) n.456A>G n.479A>G c.226A>G (p.Ile76Val) c.162A>G (p.Leu54=) c.137-437A>G (n.137-437A>G) c.418A>G (p.Ile140Val) n.336A>G c.84A>G (p.Leu28=) c.636A>G (p.Leu212=) c.549A>G (p.Leu183=) c.402A>G (p.Leu134=) c.348A>G (p.Leu116=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48511455A>T | CA516010539 | PORCN | c.297A>T (p.Leu99=) n.456A>T n.479A>T c.226A>T (p.Ile76Phe) c.162A>T (p.Leu54=) c.137-437A>T (n.137-437A>T) c.418A>T (p.Ile140Phe) n.336A>T c.84A>T (p.Leu28=) c.636A>T (p.Leu212=) c.549A>T (p.Leu183=) c.402A>T (p.Leu134=) c.348A>T (p.Leu116=) | |
X | g.48511456T>A | CA412843186 | PORCN | c.298T>A (p.Ser100Thr) n.457T>A n.480T>A c.227T>A (p.Ile76Asn) c.163T>A (p.Ser55Thr) c.137-436T>A (n.137-436T>A) c.419T>A (p.Ile140Asn) n.337T>A c.85T>A (p.Ser29Thr) c.637T>A (p.Ser213Thr) c.550T>A (p.Ser184Thr) c.403T>A (p.Ser135Thr) c.349T>A (p.Ser117Thr) | |
X | g.48511456T>C | CA412843182 | PORCN | c.298T>C (p.Ser100Pro) n.457T>C n.480T>C c.227T>C (p.Ile76Thr) c.163T>C (p.Ser55Pro) c.137-436T>C (n.137-436T>C) c.419T>C (p.Ile140Thr) n.337T>C c.85T>C (p.Ser29Pro) c.637T>C (p.Ser213Pro) c.550T>C (p.Ser184Pro) c.403T>C (p.Ser135Pro) c.349T>C (p.Ser117Pro) | |
X | g.48511456T>G | CA412843184 | PORCN | c.298T>G (p.Ser100Ala) n.457T>G n.480T>G c.227T>G (p.Ile76Ser) c.163T>G (p.Ser55Ala) c.137-436T>G (n.137-436T>G) c.419T>G (p.Ile140Ser) n.337T>G c.85T>G (p.Ser29Ala) c.637T>G (p.Ser213Ala) c.550T>G (p.Ser184Ala) c.403T>G (p.Ser135Ala) c.349T>G (p.Ser117Ala) | |
X | g.48511457C>A | CA412843189 | PORCN | c.299C>A (p.Ser100Tyr) n.458C>A n.481C>A c.228C>A (p.Ile76=) c.164C>A (p.Ser55Tyr) c.137-435C>A (n.137-435C>A) c.420C>A (p.Ile140=) n.338C>A c.86C>A (p.Ser29Tyr) c.638C>A (p.Ser213Tyr) c.551C>A (p.Ser184Tyr) c.404C>A (p.Ser135Tyr) c.350C>A (p.Ser117Tyr) | |
X | g.48511457C= | CA2428293326 | PORCN | c.299C= (p.Ser100=) n.458C= n.481C= c.228C= (p.Ile76=) c.164C= (p.Ser55=) c.137-435C= (n.137-435C=) c.420C= (p.Ile140=) n.338C= c.86C= (p.Ser29=) c.638C= (p.Ser213=) c.551C= (p.Ser184=) c.404C= (p.Ser135=) c.350C= (p.Ser117=) | |
X | g.48511457C>G | CA412843191 | PORCN | c.299C>G (p.Ser100Cys) n.458C>G n.481C>G c.228C>G (p.Ile76Met) c.164C>G (p.Ser55Cys) c.137-435C>G (n.137-435C>G) c.420C>G (p.Ile140Met) n.338C>G c.86C>G (p.Ser29Cys) c.638C>G (p.Ser213Cys) c.551C>G (p.Ser184Cys) c.404C>G (p.Ser135Cys) c.350C>G (p.Ser117Cys) | |
X | g.48511457C>T | CA412843193 | PORCN | c.299C>T (p.Ser100Phe) n.458C>T n.481C>T c.228C>T (p.Ile76=) c.164C>T (p.Ser55Phe) c.137-435C>T (n.137-435C>T) c.420C>T (p.Ile140=) n.338C>T c.86C>T (p.Ser29Phe) c.638C>T (p.Ser213Phe) c.551C>T (p.Ser184Phe) c.404C>T (p.Ser135Phe) c.350C>T (p.Ser117Phe) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48511458C>A | CA516010545 | PORCN | c.300C>A (p.Ser100=) n.459C>A n.482C>A c.229C>A (p.Arg77Ser) c.165C>A (p.Ser55=) c.137-434C>A (n.137-434C>A) c.421C>A (p.Arg141Ser) n.339C>A c.87C>A (p.Ser29=) c.639C>A (p.Ser213=) c.552C>A (p.Ser184=) c.405C>A (p.Ser135=) c.351C>A (p.Ser117=) | gnomAD v4 |
X | g.48511458C= | CA2428293327 | PORCN | c.300C= (p.Ser100=) n.459C= n.482C= c.229C= (p.Arg77=) c.165C= (p.Ser55=) c.137-434C= (n.137-434C=) c.421C= (p.Arg141=) n.339C= c.87C= (p.Ser29=) c.639C= (p.Ser213=) c.552C= (p.Ser184=) c.405C= (p.Ser135=) c.351C= (p.Ser117=) | |
X | g.48511458C>G | CA516010546 | PORCN | c.300C>G (p.Ser100=) n.459C>G n.482C>G c.229C>G (p.Arg77Gly) c.165C>G (p.Ser55=) c.137-434C>G (n.137-434C>G) c.421C>G (p.Arg141Gly) n.339C>G c.87C>G (p.Ser29=) c.639C>G (p.Ser213=) c.552C>G (p.Ser184=) c.405C>G (p.Ser135=) c.351C>G (p.Ser117=) | |
X | g.48511458C>T | CA516010548 | PORCN | c.300C>T (p.Ser100=) n.459C>T n.482C>T c.229C>T (p.Arg77Cys) c.165C>T (p.Ser55=) c.137-434C>T (n.137-434C>T) c.421C>T (p.Arg141Cys) n.339C>T c.87C>T (p.Ser29=) c.639C>T (p.Ser213=) c.552C>T (p.Ser184=) c.405C>T (p.Ser135=) c.351C>T (p.Ser117=) | dbSNP gnomAD v4 COSMIC |
X | g.48511459G>A | CA10402721 | PORCN | c.301G>A (p.Val101Ile) n.460G>A n.483G>A c.230G>A (p.Arg77His) c.166G>A (p.Val56Ile) c.137-433G>A (n.137-433G>A) c.422G>A (p.Arg141His) n.340G>A c.88G>A (p.Val30Ile) c.640G>A (p.Val214Ile) c.553G>A (p.Val185Ile) c.406G>A (p.Val136Ile) c.352G>A (p.Val118Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48511459G>C | CA412843194 | PORCN | c.301G>C (p.Val101Leu) n.460G>C n.483G>C c.230G>C (p.Arg77Pro) c.166G>C (p.Val56Leu) c.137-433G>C (n.137-433G>C) c.422G>C (p.Arg141Pro) n.340G>C c.88G>C (p.Val30Leu) c.640G>C (p.Val214Leu) c.553G>C (p.Val185Leu) c.406G>C (p.Val136Leu) c.352G>C (p.Val118Leu) | |
X | g.48511459G= | CA2428293328 | PORCN | c.301G= (p.Val101=) n.460G= n.483G= c.230G= (p.Arg77=) c.166G= (p.Val56=) c.137-433G= (n.137-433G=) c.422G= (p.Arg141=) n.340G= c.88G= (p.Val30=) c.640G= (p.Val214=) c.553G= (p.Val185=) c.406G= (p.Val136=) c.352G= (p.Val118=) | |
X | g.48511459G>T | CA412843196 | PORCN | c.301G>T (p.Val101Phe) n.460G>T n.483G>T c.230G>T (p.Arg77Leu) c.166G>T (p.Val56Phe) c.137-433G>T (n.137-433G>T) c.422G>T (p.Arg141Leu) n.340G>T c.88G>T (p.Val30Phe) c.640G>T (p.Val214Phe) c.553G>T (p.Val185Phe) c.406G>T (p.Val136Phe) c.352G>T (p.Val118Phe) | |
X | g.48511460T>A | CA412843198 | PORCN | c.302T>A (p.Val101Asp) n.461T>A n.484T>A c.231T>A (p.Arg77=) c.167T>A (p.Val56Asp) c.137-432T>A (n.137-432T>A) c.423T>A (p.Arg141=) n.341T>A c.89T>A (p.Val30Asp) c.641T>A (p.Val214Asp) c.554T>A (p.Val185Asp) c.407T>A (p.Val136Asp) c.353T>A (p.Val118Asp) | |
X | g.48511460T>C | CA412843200 | PORCN | c.302T>C (p.Val101Ala) n.461T>C n.484T>C c.231T>C (p.Arg77=) c.167T>C (p.Val56Ala) c.137-432T>C (n.137-432T>C) c.423T>C (p.Arg141=) n.341T>C c.89T>C (p.Val30Ala) c.641T>C (p.Val214Ala) c.554T>C (p.Val185Ala) c.407T>C (p.Val136Ala) c.353T>C (p.Val118Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48511460T>G | CA412843202 | PORCN | c.302T>G (p.Val101Gly) n.461T>G n.484T>G c.231T>G (p.Arg77=) c.167T>G (p.Val56Gly) c.137-432T>G (n.137-432T>G) c.423T>G (p.Arg141=) n.341T>G c.89T>G (p.Val30Gly) c.641T>G (p.Val214Gly) c.554T>G (p.Val185Gly) c.407T>G (p.Val136Gly) c.353T>G (p.Val118Gly) | |
X | g.48511460T= | CA2428293329 | PORCN | c.302T= (p.Val101=) n.461T= n.484T= c.231T= (p.Arg77=) c.167T= (p.Val56=) c.137-432T= (n.137-432T=) c.423T= (p.Arg141=) n.341T= c.89T= (p.Val30=) c.641T= (p.Val214=) c.554T= (p.Val185=) c.407T= (p.Val136=) c.353T= (p.Val118=) | |
X | g.48511461C>A | CA516010557 | PORCN | c.303C>A (p.Val101=) n.462C>A n.485C>A c.232C>A (p.His78Asn) c.168C>A (p.Val56=) c.137-431C>A (n.137-431C>A) c.424C>A (p.His142Asn) n.342C>A c.90C>A (p.Val30=) c.642C>A (p.Val214=) c.555C>A (p.Val185=) c.408C>A (p.Val136=) c.354C>A (p.Val118=) | |
X | g.48511461C>G | CA516010556 | PORCN | c.303C>G (p.Val101=) n.462C>G n.485C>G c.232C>G (p.His78Asp) c.168C>G (p.Val56=) c.137-431C>G (n.137-431C>G) c.424C>G (p.His142Asp) n.342C>G c.90C>G (p.Val30=) c.642C>G (p.Val214=) c.555C>G (p.Val185=) c.408C>G (p.Val136=) c.354C>G (p.Val118=) | |
X | g.48511461C>T | CA516010554 | PORCN | c.303C>T (p.Val101=) n.462C>T n.485C>T c.232C>T (p.His78Tyr) c.168C>T (p.Val56=) c.137-431C>T (n.137-431C>T) c.424C>T (p.His142Tyr) n.342C>T c.90C>T (p.Val30=) c.642C>T (p.Val214=) c.555C>T (p.Val185=) c.408C>T (p.Val136=) c.354C>T (p.Val118=) | |
X | g.48511462A= | CA2428293330 | PORCN | c.304A= (p.Thr102=) n.463A= n.486A= c.233A= (p.His78=) c.169A= (p.Thr57=) c.137-430A= (n.137-430A=) c.425A= (p.His142=) n.343A= c.91A= (p.Thr31=) c.643A= (p.Thr215=) c.556A= (p.Thr186=) c.409A= (p.Thr137=) c.355A= (p.Thr119=) | |
X | g.48511462A>C | CA412843204 | PORCN | c.304A>C (p.Thr102Pro) n.463A>C n.486A>C c.233A>C (p.His78Pro) c.169A>C (p.Thr57Pro) c.137-430A>C (n.137-430A>C) c.425A>C (p.His142Pro) n.343A>C c.91A>C (p.Thr31Pro) c.643A>C (p.Thr215Pro) c.556A>C (p.Thr186Pro) c.409A>C (p.Thr137Pro) c.355A>C (p.Thr119Pro) | gnomAD v4 |
X | g.48511462A>G | CA10402722 | PORCN | c.304A>G (p.Thr102Ala) n.463A>G n.486A>G c.233A>G (p.His78Arg) c.169A>G (p.Thr57Ala) c.137-430A>G (n.137-430A>G) c.425A>G (p.His142Arg) n.343A>G c.91A>G (p.Thr31Ala) c.643A>G (p.Thr215Ala) c.556A>G (p.Thr186Ala) c.409A>G (p.Thr137Ala) c.355A>G (p.Thr119Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48511462A>T | CA412843220 | PORCN | c.304A>T (p.Thr102Ser) n.463A>T n.486A>T c.233A>T (p.His78Leu) c.169A>T (p.Thr57Ser) c.137-430A>T (n.137-430A>T) c.425A>T (p.His142Leu) n.343A>T c.91A>T (p.Thr31Ser) c.643A>T (p.Thr215Ser) c.556A>T (p.Thr186Ser) c.409A>T (p.Thr137Ser) c.355A>T (p.Thr119Ser) | |
X | g.48511463C>A | CA412843224 | PORCN | c.305C>A (p.Thr102Asn) n.464C>A n.487C>A c.234C>A (p.His78Gln) c.170C>A (p.Thr57Asn) c.137-429C>A (n.137-429C>A) c.426C>A (p.His142Gln) n.344C>A c.92C>A (p.Thr31Asn) c.644C>A (p.Thr215Asn) c.557C>A (p.Thr186Asn) c.410C>A (p.Thr137Asn) c.356C>A (p.Thr119Asn) | |
X | g.48511463C>G | CA412843225 | PORCN | c.305C>G (p.Thr102Ser) n.464C>G n.487C>G c.234C>G (p.His78Gln) c.170C>G (p.Thr57Ser) c.137-429C>G (n.137-429C>G) c.426C>G (p.His142Gln) n.344C>G c.92C>G (p.Thr31Ser) c.644C>G (p.Thr215Ser) c.557C>G (p.Thr186Ser) c.410C>G (p.Thr137Ser) c.356C>G (p.Thr119Ser) | |
X | g.48511463C>T | CA412843223 | PORCN | c.305C>T (p.Thr102Ile) n.464C>T n.487C>T c.234C>T (p.His78=) c.170C>T (p.Thr57Ile) c.137-429C>T (n.137-429C>T) c.426C>T (p.His142=) n.344C>T c.92C>T (p.Thr31Ile) c.644C>T (p.Thr215Ile) c.557C>T (p.Thr186Ile) c.410C>T (p.Thr137Ile) c.356C>T (p.Thr119Ile) | |
X | g.48511464C>A | CA516010565 | PORCN | c.306C>A (p.Thr102=) n.465C>A n.488C>A c.235C>A (p.His79Asn) c.171C>A (p.Thr57=) c.137-428C>A (n.137-428C>A) c.427C>A (p.His143Asn) n.345C>A c.93C>A (p.Thr31=) c.645C>A (p.Thr215=) c.558C>A (p.Thr186=) c.411C>A (p.Thr137=) c.357C>A (p.Thr119=) | COSMIC |
X | g.48511464C>G | CA516010567 | PORCN | c.306C>G (p.Thr102=) n.465C>G n.488C>G c.235C>G (p.His79Asp) c.171C>G (p.Thr57=) c.137-428C>G (n.137-428C>G) c.427C>G (p.His143Asp) n.345C>G c.93C>G (p.Thr31=) c.645C>G (p.Thr215=) c.558C>G (p.Thr186=) c.411C>G (p.Thr137=) c.357C>G (p.Thr119=) | |
X | g.48511464C>T | CA516010568 | PORCN | c.306C>T (p.Thr102=) n.465C>T n.488C>T c.235C>T (p.His79Tyr) c.171C>T (p.Thr57=) c.137-428C>T (n.137-428C>T) c.427C>T (p.His143Tyr) n.345C>T c.93C>T (p.Thr31=) c.645C>T (p.Thr215=) c.558C>T (p.Thr186=) c.411C>T (p.Thr137=) c.357C>T (p.Thr119=) | |
X | g.48511465A>C | CA412843227 | PORCN | c.307A>C (p.Ile103Leu) n.466A>C n.489A>C c.236A>C (p.His79Pro) c.172A>C (p.Ile58Leu) c.137-427A>C (n.137-427A>C) c.428A>C (p.His143Pro) n.346A>C c.94A>C (p.Ile32Leu) c.646A>C (p.Ile216Leu) c.559A>C (p.Ile187Leu) c.412A>C (p.Ile138Leu) c.358A>C (p.Ile120Leu) | |
X | g.48511465A>G | CA412843232 | PORCN | c.307A>G (p.Ile103Val) n.466A>G n.489A>G c.236A>G (p.His79Arg) c.172A>G (p.Ile58Val) c.137-427A>G (n.137-427A>G) c.428A>G (p.His143Arg) n.346A>G c.94A>G (p.Ile32Val) c.646A>G (p.Ile216Val) c.559A>G (p.Ile187Val) c.412A>G (p.Ile138Val) c.358A>G (p.Ile120Val) | |
X | g.48511465A>T | CA412843229 | PORCN | c.307A>T (p.Ile103Phe) n.466A>T n.489A>T c.236A>T (p.His79Leu) c.172A>T (p.Ile58Phe) c.137-427A>T (n.137-427A>T) c.428A>T (p.His143Leu) n.346A>T c.94A>T (p.Ile32Phe) c.646A>T (p.Ile216Phe) c.559A>T (p.Ile187Phe) c.412A>T (p.Ile138Phe) c.358A>T (p.Ile120Phe) | |
X | g.48511466T>A | CA412843235 | PORCN | c.308T>A (p.Ile103Asn) n.467T>A n.490T>A c.237T>A (p.His79Gln) c.173T>A (p.Ile58Asn) c.137-426T>A (n.137-426T>A) c.429T>A (p.His143Gln) n.347T>A c.95T>A (p.Ile32Asn) c.647T>A (p.Ile216Asn) c.560T>A (p.Ile187Asn) c.413T>A (p.Ile138Asn) c.359T>A (p.Ile120Asn) | |
X | g.48511466T>C | CA412843236 | PORCN | c.308T>C (p.Ile103Thr) n.467T>C n.490T>C c.237T>C (p.His79=) c.173T>C (p.Ile58Thr) c.137-426T>C (n.137-426T>C) c.429T>C (p.His143=) n.347T>C c.95T>C (p.Ile32Thr) c.647T>C (p.Ile216Thr) c.560T>C (p.Ile187Thr) c.413T>C (p.Ile138Thr) c.359T>C (p.Ile120Thr) | |
X | g.48511466T>G | CA412843238 | PORCN | c.308T>G (p.Ile103Ser) n.467T>G n.490T>G c.237T>G (p.His79Gln) c.173T>G (p.Ile58Ser) c.137-426T>G (n.137-426T>G) c.429T>G (p.His143Gln) n.347T>G c.95T>G (p.Ile32Ser) c.647T>G (p.Ile216Ser) c.560T>G (p.Ile187Ser) c.413T>G (p.Ile138Ser) c.359T>G (p.Ile120Ser) | |
X | g.48511467C>A | CA516010575 | PORCN | c.309C>A (p.Ile103=) n.468C>A n.491C>A c.238C>A (p.Pro80Thr) c.174C>A (p.Ile58=) c.137-425C>A (n.137-425C>A) c.430C>A (p.Pro144Thr) n.348C>A c.96C>A (p.Ile32=) c.648C>A (p.Ile216=) c.561C>A (p.Ile187=) c.414C>A (p.Ile138=) c.360C>A (p.Ile120=) | |
X | g.48511467C= | CA2428293331 | PORCN | c.309C= (p.Ile103=) n.468C= n.491C= c.238C= (p.Pro80=) c.174C= (p.Ile58=) c.137-425C= (n.137-425C=) c.430C= (p.Pro144=) n.348C= c.96C= (p.Ile32=) c.648C= (p.Ile216=) c.561C= (p.Ile187=) c.414C= (p.Ile138=) c.360C= (p.Ile120=) | |
X | g.48511467C>G | CA412843240 | PORCN | c.309C>G (p.Ile103Met) n.468C>G n.491C>G c.238C>G (p.Pro80Ala) c.174C>G (p.Ile58Met) c.137-425C>G (n.137-425C>G) c.430C>G (p.Pro144Ala) n.348C>G c.96C>G (p.Ile32Met) c.648C>G (p.Ile216Met) c.561C>G (p.Ile187Met) c.414C>G (p.Ile138Met) c.360C>G (p.Ile120Met) | |
X | g.48511467C>T | CA516010578 | PORCN | c.309C>T (p.Ile103=) n.468C>T n.491C>T c.238C>T (p.Pro80Ser) c.174C>T (p.Ile58=) c.137-425C>T (n.137-425C>T) c.430C>T (p.Pro144Ser) n.348C>T c.96C>T (p.Ile32=) c.648C>T (p.Ile216=) c.561C>T (p.Ile187=) c.414C>T (p.Ile138=) c.360C>T (p.Ile120=) | dbSNP |
X | g.48511468C>A | CA412843243 | PORCN | c.310C>A (p.Leu104Ile) n.469C>A n.492C>A c.239C>A (p.Pro80His) c.175C>A (p.Leu59Ile) c.137-424C>A (n.137-424C>A) c.431C>A (p.Pro144His) n.349C>A c.97C>A (p.Leu33Ile) c.649C>A (p.Leu217Ile) c.562C>A (p.Leu188Ile) c.415C>A (p.Leu139Ile) c.361C>A (p.Leu121Ile) | |
X | g.48511468C>G | CA412843246 | PORCN | c.310C>G (p.Leu104Val) n.469C>G n.492C>G c.239C>G (p.Pro80Arg) c.175C>G (p.Leu59Val) c.137-424C>G (n.137-424C>G) c.431C>G (p.Pro144Arg) n.349C>G c.97C>G (p.Leu33Val) c.649C>G (p.Leu217Val) c.562C>G (p.Leu188Val) c.415C>G (p.Leu139Val) c.361C>G (p.Leu121Val) | |
X | g.48511468C>T | CA412843247 | PORCN | c.310C>T (p.Leu104Phe) n.469C>T n.492C>T c.239C>T (p.Pro80Leu) c.175C>T (p.Leu59Phe) c.137-424C>T (n.137-424C>T) c.431C>T (p.Pro144Leu) n.349C>T c.97C>T (p.Leu33Phe) c.649C>T (p.Leu217Phe) c.562C>T (p.Leu188Phe) c.415C>T (p.Leu139Phe) c.361C>T (p.Leu121Phe) | gnomAD v4 |
X | g.48511469T>A | CA412843251 | PORCN | c.311T>A (p.Leu104His) n.470T>A n.493T>A c.240T>A (p.Pro80=) c.176T>A (p.Leu59His) c.137-423T>A (n.137-423T>A) c.432T>A (p.Pro144=) n.350T>A c.98T>A (p.Leu33His) c.650T>A (p.Leu217His) c.563T>A (p.Leu188His) c.416T>A (p.Leu139His) c.362T>A (p.Leu121His) | |
X | g.48511469T>C | CA412843252 | PORCN | c.311T>C (p.Leu104Pro) n.470T>C n.493T>C c.240T>C (p.Pro80=) c.176T>C (p.Leu59Pro) c.137-423T>C (n.137-423T>C) c.432T>C (p.Pro144=) n.350T>C c.98T>C (p.Leu33Pro) c.650T>C (p.Leu217Pro) c.563T>C (p.Leu188Pro) c.416T>C (p.Leu139Pro) c.362T>C (p.Leu121Pro) | |
X | g.48511469T>G | CA412843255 | PORCN | c.311T>G (p.Leu104Arg) n.470T>G n.493T>G c.240T>G (p.Pro80=) c.176T>G (p.Leu59Arg) c.137-423T>G (n.137-423T>G) c.432T>G (p.Pro144=) n.350T>G c.98T>G (p.Leu33Arg) c.650T>G (p.Leu217Arg) c.563T>G (p.Leu188Arg) c.416T>G (p.Leu139Arg) c.362T>G (p.Leu121Arg) | |
X | g.48511470C>A | CA516010585 | PORCN | c.312C>A (p.Leu104=) n.471C>A n.494C>A c.241C>A (p.His81Asn) c.177C>A (p.Leu59=) c.137-422C>A (n.137-422C>A) c.433C>A (p.His145Asn) n.351C>A c.99C>A (p.Leu33=) c.651C>A (p.Leu217=) c.564C>A (p.Leu188=) c.417C>A (p.Leu139=) c.363C>A (p.Leu121=) | |
X | g.48511470C>G | CA516010586 | PORCN | c.312C>G (p.Leu104=) n.471C>G n.494C>G c.241C>G (p.His81Asp) c.177C>G (p.Leu59=) c.137-422C>G (n.137-422C>G) c.433C>G (p.His145Asp) n.351C>G c.99C>G (p.Leu33=) c.651C>G (p.Leu217=) c.564C>G (p.Leu188=) c.417C>G (p.Leu139=) c.363C>G (p.Leu121=) | |
X | g.48511470C>T | CA516010587 | PORCN | c.312C>T (p.Leu104=) n.471C>T n.494C>T c.241C>T (p.His81Tyr) c.177C>T (p.Leu59=) c.137-422C>T (n.137-422C>T) c.433C>T (p.His145Tyr) n.351C>T c.99C>T (p.Leu33=) c.651C>T (p.Leu217=) c.564C>T (p.Leu188=) c.417C>T (p.Leu139=) c.363C>T (p.Leu121=) | |
X | g.48511471A>C | CA412843262 | PORCN | c.313A>C (p.Ile105Leu) n.472A>C n.495A>C c.242A>C (p.His81Pro) c.178A>C (p.Ile60Leu) c.137-421A>C (n.137-421A>C) c.434A>C (p.His145Pro) n.352A>C c.100A>C (p.Ile34Leu) c.652A>C (p.Ile218Leu) c.565A>C (p.Ile189Leu) c.418A>C (p.Ile140Leu) c.364A>C (p.Ile122Leu) | |
X | g.48511471A>G | CA412843260 | PORCN | c.313A>G (p.Ile105Val) n.472A>G n.495A>G c.242A>G (p.His81Arg) c.178A>G (p.Ile60Val) c.137-421A>G (n.137-421A>G) c.434A>G (p.His145Arg) n.352A>G c.100A>G (p.Ile34Val) c.652A>G (p.Ile218Val) c.565A>G (p.Ile189Val) c.418A>G (p.Ile140Val) c.364A>G (p.Ile122Val) | gnomAD v4 |
X | g.48511471A>T | CA412843257 | PORCN | c.313A>T (p.Ile105Phe) n.472A>T n.495A>T c.242A>T (p.His81Leu) c.178A>T (p.Ile60Phe) c.137-421A>T (n.137-421A>T) c.434A>T (p.His145Leu) n.352A>T c.100A>T (p.Ile34Phe) c.652A>T (p.Ile218Phe) c.565A>T (p.Ile189Phe) c.418A>T (p.Ile140Phe) c.364A>T (p.Ile122Phe) | |
X | g.48511472T>A | CA412843264 | PORCN | c.314T>A (p.Ile105Asn) n.473T>A n.496T>A c.243T>A (p.His81Gln) c.179T>A (p.Ile60Asn) c.137-420T>A (n.137-420T>A) c.435T>A (p.His145Gln) n.353T>A c.101T>A (p.Ile34Asn) c.653T>A (p.Ile218Asn) c.566T>A (p.Ile189Asn) c.419T>A (p.Ile140Asn) c.365T>A (p.Ile122Asn) | |
X | g.48511472T>C | CA412843267 | PORCN | c.314T>C (p.Ile105Thr) n.473T>C n.496T>C c.243T>C (p.His81=) c.179T>C (p.Ile60Thr) c.137-420T>C (n.137-420T>C) c.435T>C (p.His145=) n.353T>C c.101T>C (p.Ile34Thr) c.653T>C (p.Ile218Thr) c.566T>C (p.Ile189Thr) c.419T>C (p.Ile140Thr) c.365T>C (p.Ile122Thr) | |
X | g.48511472T>G | CA412843269 | PORCN | c.314T>G (p.Ile105Ser) n.473T>G n.496T>G c.243T>G (p.His81Gln) c.179T>G (p.Ile60Ser) c.137-420T>G (n.137-420T>G) c.435T>G (p.His145Gln) n.353T>G c.101T>G (p.Ile34Ser) c.653T>G (p.Ile218Ser) c.566T>G (p.Ile189Ser) c.419T>G (p.Ile140Ser) c.365T>G (p.Ile122Ser) | |
X | g.48511473C>A | CA516010596 | PORCN | c.315C>A (p.Ile105=) n.474C>A n.497C>A c.244C>A (p.Leu82Ile) c.180C>A (p.Ile60=) c.137-419C>A (n.137-419C>A) c.436C>A (p.Leu146Ile) n.354C>A c.102C>A (p.Ile34=) c.654C>A (p.Ile218=) c.567C>A (p.Ile189=) c.420C>A (p.Ile140=) c.366C>A (p.Ile122=) | gnomAD v4 |
X | g.48511473C>G | CA412843272 | PORCN | c.315C>G (p.Ile105Met) n.474C>G n.497C>G c.244C>G (p.Leu82Val) c.180C>G (p.Ile60Met) c.137-419C>G (n.137-419C>G) c.436C>G (p.Leu146Val) n.354C>G c.102C>G (p.Ile34Met) c.654C>G (p.Ile218Met) c.567C>G (p.Ile189Met) c.420C>G (p.Ile140Met) c.366C>G (p.Ile122Met) | |
X | g.48511473C>T | CA516010598 | PORCN | c.315C>T (p.Ile105=) n.474C>T n.497C>T c.244C>T (p.Leu82=) c.180C>T (p.Ile60=) c.137-419C>T (n.137-419C>T) c.436C>T (p.Leu146=) n.354C>T c.102C>T (p.Ile34=) c.654C>T (p.Ile218=) c.567C>T (p.Ile189=) c.420C>T (p.Ile140=) c.366C>T (p.Ile122=) | |
X | g.48511474T>A | CA412843273 | PORCN | c.316T>A (p.Tyr106Asn) n.475T>A n.498T>A c.245T>A (p.Leu82Gln) c.181T>A (p.Tyr61Asn) c.137-418T>A (n.137-418T>A) c.437T>A (p.Leu146Gln) n.355T>A c.103T>A (p.Tyr35Asn) c.655T>A (p.Tyr219Asn) c.568T>A (p.Tyr190Asn) c.421T>A (p.Tyr141Asn) c.367T>A (p.Tyr123Asn) | |
X | g.48511474T>C | CA412843275 | PORCN | c.316T>C (p.Tyr106His) n.475T>C n.498T>C c.245T>C (p.Leu82Pro) c.181T>C (p.Tyr61His) c.137-418T>C (n.137-418T>C) c.437T>C (p.Leu146Pro) n.355T>C c.103T>C (p.Tyr35His) c.655T>C (p.Tyr219His) c.568T>C (p.Tyr190His) c.421T>C (p.Tyr141His) c.367T>C (p.Tyr123His) | |
X | g.48511474T>G | CA412843277 | PORCN | c.316T>G (p.Tyr106Asp) n.475T>G n.498T>G c.245T>G (p.Leu82Arg) c.181T>G (p.Tyr61Asp) c.137-418T>G (n.137-418T>G) c.437T>G (p.Leu146Arg) n.355T>G c.103T>G (p.Tyr35Asp) c.655T>G (p.Tyr219Asp) c.568T>G (p.Tyr190Asp) c.421T>G (p.Tyr141Asp) c.367T>G (p.Tyr123Asp) | |
X | g.48511475A>C | CA412843279 | PORCN | c.317A>C (p.Tyr106Ser) n.476A>C n.499A>C c.246A>C (p.Leu82=) c.182A>C (p.Tyr61Ser) c.137-417A>C (n.137-417A>C) c.438A>C (p.Leu146=) n.356A>C c.104A>C (p.Tyr35Ser) c.656A>C (p.Tyr219Ser) c.569A>C (p.Tyr190Ser) c.422A>C (p.Tyr141Ser) c.368A>C (p.Tyr123Ser) | |
X | g.48511475A>G | CA412843282 | PORCN | c.317A>G (p.Tyr106Cys) n.476A>G n.499A>G c.246A>G (p.Leu82=) c.182A>G (p.Tyr61Cys) c.137-417A>G (n.137-417A>G) c.438A>G (p.Leu146=) n.356A>G c.104A>G (p.Tyr35Cys) c.656A>G (p.Tyr219Cys) c.569A>G (p.Tyr190Cys) c.422A>G (p.Tyr141Cys) c.368A>G (p.Tyr123Cys) | |
X | g.48511475A>T | CA412843284 | PORCN | c.317A>T (p.Tyr106Phe) n.476A>T n.499A>T c.246A>T (p.Leu82=) c.182A>T (p.Tyr61Phe) c.137-417A>T (n.137-417A>T) c.438A>T (p.Leu146=) n.356A>T c.104A>T (p.Tyr35Phe) c.656A>T (p.Tyr219Phe) c.569A>T (p.Tyr190Phe) c.422A>T (p.Tyr141Phe) c.368A>T (p.Tyr123Phe) | |
X | g.48511476C>A | CA412843286 | PORCN | c.318C>A (p.Tyr106Ter) n.477C>A n.500C>A c.247C>A (p.Pro83Thr) c.183C>A (p.Tyr61Ter) c.137-416C>A (n.137-416C>A) c.439C>A (p.Pro147Thr) n.357C>A c.105C>A (p.Tyr35Ter) c.657C>A (p.Tyr219Ter) c.570C>A (p.Tyr190Ter) c.423C>A (p.Tyr141Ter) c.369C>A (p.Tyr123Ter) | |
X | g.48511476C= | CA2428293332 | PORCN | c.318C= (p.Tyr106=) n.477C= n.500C= c.247C= (p.Pro83=) c.183C= (p.Tyr61=) c.137-416C= (n.137-416C=) c.439C= (p.Pro147=) n.357C= c.105C= (p.Tyr35=) c.657C= (p.Tyr219=) c.570C= (p.Tyr190=) c.423C= (p.Tyr141=) c.369C= (p.Tyr123=) | |
X | g.48511476C>G | CA412843288 | PORCN | c.318C>G (p.Tyr106Ter) n.477C>G n.500C>G c.247C>G (p.Pro83Ala) c.183C>G (p.Tyr61Ter) c.137-416C>G (n.137-416C>G) c.439C>G (p.Pro147Ala) n.357C>G c.105C>G (p.Tyr35Ter) c.657C>G (p.Tyr219Ter) c.570C>G (p.Tyr190Ter) c.423C>G (p.Tyr141Ter) c.369C>G (p.Tyr123Ter) | |
X | g.48511476C>T | CA516010610 | PORCN | c.318C>T (p.Tyr106=) n.477C>T n.500C>T c.247C>T (p.Pro83Ser) c.183C>T (p.Tyr61=) c.137-416C>T (n.137-416C>T) c.439C>T (p.Pro147Ser) n.357C>T c.105C>T (p.Tyr35=) c.657C>T (p.Tyr219=) c.570C>T (p.Tyr190=) c.423C>T (p.Tyr141=) c.369C>T (p.Tyr123=) | dbSNP gnomAD v4 |
X | g.48511477C>A | CA412843293 | PORCN | c.319C>A (p.Leu107Ile) n.478C>A n.501C>A c.248C>A (p.Pro83His) c.184C>A (p.Leu62Ile) c.137-415C>A (n.137-415C>A) c.440C>A (p.Pro147His) n.358C>A c.106C>A (p.Leu36Ile) c.658C>A (p.Leu220Ile) c.571C>A (p.Leu191Ile) c.424C>A (p.Leu142Ile) c.370C>A (p.Leu124Ile) | |
X | g.48511477C>G | CA412843291 | PORCN | c.319C>G (p.Leu107Val) n.478C>G n.501C>G c.248C>G (p.Pro83Arg) c.184C>G (p.Leu62Val) c.137-415C>G (n.137-415C>G) c.440C>G (p.Pro147Arg) n.358C>G c.106C>G (p.Leu36Val) c.658C>G (p.Leu220Val) c.571C>G (p.Leu191Val) c.424C>G (p.Leu142Val) c.370C>G (p.Leu124Val) | |
X | g.48511477C>T | CA516010612 | PORCN | c.319C>T (p.Leu107=) n.478C>T n.501C>T c.248C>T (p.Pro83Leu) c.184C>T (p.Leu62=) c.137-415C>T (n.137-415C>T) c.440C>T (p.Pro147Leu) n.358C>T c.106C>T (p.Leu36=) c.658C>T (p.Leu220=) c.571C>T (p.Leu191=) c.424C>T (p.Leu142=) c.370C>T (p.Leu124=) | |
X | g.48511477_48511478insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA | CA2741748632 | PORCN | c.319_320insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA (p.Leu107GlnfsTer9) n.478_479insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA n.501_502insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA c.248_249insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA (p.Pro83_Thr84insValSerLysLysSerProGluIleAlaTyrLeuLysLeuAsn) c.184_185insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA (p.Leu62GlnfsTer9) c.137-415_137-414insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA (n.137-415_137-414insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA) c.440_441insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA (p.Pro147_Thr148insValSerLysLysSerProGluIleAlaTyrLeuLysLeuAsn) n.358_359insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA c.106_107insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA (p.Leu36GlnfsTer9) c.658_659insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA (p.Leu220GlnfsTer9) c.571_572insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA (p.Leu191GlnfsTer9) c.424_425insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA (p.Leu142GlnfsTer9) c.370_371insAGTTTCAAAGAAAAGCCCAGAAATAGCATATCTTAAATTAAA (p.Leu124GlnfsTer9) | |
X | g.48511478T>A | CA412843295 | PORCN | c.320T>A (p.Leu107Gln) n.479T>A n.502T>A c.249T>A (p.Pro83=) c.185T>A (p.Leu62Gln) c.137-414T>A (n.137-414T>A) c.441T>A (p.Pro147=) n.359T>A c.107T>A (p.Leu36Gln) c.659T>A (p.Leu220Gln) c.572T>A (p.Leu191Gln) c.425T>A (p.Leu142Gln) c.371T>A (p.Leu124Gln) | |
X | g.48511478T>C | CA412843298 | PORCN | c.320T>C (p.Leu107Pro) n.479T>C n.502T>C c.249T>C (p.Pro83=) c.185T>C (p.Leu62Pro) c.137-414T>C (n.137-414T>C) c.441T>C (p.Pro147=) n.359T>C c.107T>C (p.Leu36Pro) c.659T>C (p.Leu220Pro) c.572T>C (p.Leu191Pro) c.425T>C (p.Leu142Pro) c.371T>C (p.Leu124Pro) | |
X | g.48511478T>G | CA412843300 | PORCN | c.320T>G (p.Leu107Arg) n.479T>G n.502T>G c.249T>G (p.Pro83=) c.185T>G (p.Leu62Arg) c.137-414T>G (n.137-414T>G) c.441T>G (p.Pro147=) n.359T>G c.107T>G (p.Leu36Arg) c.659T>G (p.Leu220Arg) c.572T>G (p.Leu191Arg) c.425T>G (p.Leu142Arg) c.371T>G (p.Leu124Arg) | |
X | g.48511479A= | CA2428293333 | PORCN | c.321A= (p.Leu107=) n.480A= n.503A= c.250A= (p.Thr84=) c.186A= (p.Leu62=) c.137-413A= (n.137-413A=) c.442A= (p.Thr148=) n.360A= c.108A= (p.Leu36=) c.660A= (p.Leu220=) c.573A= (p.Leu191=) c.426A= (p.Leu142=) c.372A= (p.Leu124=) | |
X | g.48511479A>C | CA516010619 | PORCN | c.321A>C (p.Leu107=) n.480A>C n.503A>C c.250A>C (p.Thr84Pro) c.186A>C (p.Leu62=) c.137-413A>C (n.137-413A>C) c.442A>C (p.Thr148Pro) n.360A>C c.108A>C (p.Leu36=) c.660A>C (p.Leu220=) c.573A>C (p.Leu191=) c.426A>C (p.Leu142=) c.372A>C (p.Leu124=) | |
X | g.48511479A>G | CA10402723 | PORCN | c.321A>G (p.Leu107=) n.480A>G n.503A>G c.250A>G (p.Thr84Ala) c.186A>G (p.Leu62=) c.137-413A>G (n.137-413A>G) c.442A>G (p.Thr148Ala) n.360A>G c.108A>G (p.Leu36=) c.660A>G (p.Leu220=) c.573A>G (p.Leu191=) c.426A>G (p.Leu142=) c.372A>G (p.Leu124=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48511479A>T | CA516010622 | PORCN | c.321A>T (p.Leu107=) n.480A>T n.503A>T c.250A>T (p.Thr84Ser) c.186A>T (p.Leu62=) c.137-413A>T (n.137-413A>T) c.442A>T (p.Thr148Ser) n.360A>T c.108A>T (p.Leu36=) c.660A>T (p.Leu220=) c.573A>T (p.Leu191=) c.426A>T (p.Leu142=) c.372A>T (p.Leu124=) | |
X | g.48511480C>A | CA412843306 | PORCN | c.322C>A (p.Leu108Ile) n.481C>A n.504C>A c.251C>A (p.Thr84Asn) c.187C>A (p.Leu63Ile) c.137-412C>A (n.137-412C>A) c.443C>A (p.Thr148Asn) n.361C>A c.109C>A (p.Leu37Ile) c.661C>A (p.Leu221Ile) c.574C>A (p.Leu192Ile) c.427C>A (p.Leu143Ile) c.373C>A (p.Leu125Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48511480C= | CA2428293334 | PORCN | c.322C= (p.Leu108=) n.481C= n.504C= c.251C= (p.Thr84=) c.187C= (p.Leu63=) c.137-412C= (n.137-412C=) c.443C= (p.Thr148=) n.361C= c.109C= (p.Leu37=) c.661C= (p.Leu221=) c.574C= (p.Leu192=) c.427C= (p.Leu143=) c.373C= (p.Leu125=) | |
X | g.48511480C>G | CA412843311 | PORCN | c.322C>G (p.Leu108Val) n.481C>G n.504C>G c.251C>G (p.Thr84Ser) c.187C>G (p.Leu63Val) c.137-412C>G (n.137-412C>G) c.443C>G (p.Thr148Ser) n.361C>G c.109C>G (p.Leu37Val) c.661C>G (p.Leu221Val) c.574C>G (p.Leu192Val) c.427C>G (p.Leu143Val) c.373C>G (p.Leu125Val) | |
X | g.48511480C>T | CA412843314 | PORCN | c.322C>T (p.Leu108Phe) n.481C>T n.504C>T c.251C>T (p.Thr84Ile) c.187C>T (p.Leu63Phe) c.137-412C>T (n.137-412C>T) c.443C>T (p.Thr148Ile) n.361C>T c.109C>T (p.Leu37Phe) c.661C>T (p.Leu221Phe) c.574C>T (p.Leu192Phe) c.427C>T (p.Leu143Phe) c.373C>T (p.Leu125Phe) | |
X | g.48511481T>A | CA412843315 | PORCN | c.323T>A (p.Leu108His) n.482T>A n.505T>A c.252T>A (p.Thr84=) c.188T>A (p.Leu63His) c.137-411T>A (n.137-411T>A) c.444T>A (p.Thr148=) n.362T>A c.110T>A (p.Leu37His) c.662T>A (p.Leu221His) c.575T>A (p.Leu192His) c.428T>A (p.Leu143His) c.374T>A (p.Leu125His) | |
X | g.48511481T>C | CA412843317 | PORCN | c.323T>C (p.Leu108Pro) n.482T>C n.505T>C c.252T>C (p.Thr84=) c.188T>C (p.Leu63Pro) c.137-411T>C (n.137-411T>C) c.444T>C (p.Thr148=) n.362T>C c.110T>C (p.Leu37Pro) c.662T>C (p.Leu221Pro) c.575T>C (p.Leu192Pro) c.428T>C (p.Leu143Pro) c.374T>C (p.Leu125Pro) | |
X | g.48511481T>G | CA412843319 | PORCN | c.323T>G (p.Leu108Arg) n.482T>G n.505T>G c.252T>G (p.Thr84=) c.188T>G (p.Leu63Arg) c.137-411T>G (n.137-411T>G) c.444T>G (p.Thr148=) n.362T>G c.110T>G (p.Leu37Arg) c.662T>G (p.Leu221Arg) c.575T>G (p.Leu192Arg) c.428T>G (p.Leu143Arg) c.374T>G (p.Leu125Arg) | |
X | g.48511482C>A | CA516010631 | PORCN | c.324C>A (p.Leu108=) n.483C>A n.506C>A c.253C>A (p.His85Asn) c.189C>A (p.Leu63=) c.137-410C>A (n.137-410C>A) c.445C>A (p.His149Asn) n.363C>A c.111C>A (p.Leu37=) c.663C>A (p.Leu221=) c.576C>A (p.Leu192=) c.429C>A (p.Leu143=) c.375C>A (p.Leu125=) | |
X | g.48511482C>G | CA516010630 | PORCN | c.324C>G (p.Leu108=) n.483C>G n.506C>G c.253C>G (p.His85Asp) c.189C>G (p.Leu63=) c.137-410C>G (n.137-410C>G) c.445C>G (p.His149Asp) n.363C>G c.111C>G (p.Leu37=) c.663C>G (p.Leu221=) c.576C>G (p.Leu192=) c.429C>G (p.Leu143=) c.375C>G (p.Leu125=) | |
X | g.48511482C>T | CA516010628 | PORCN | c.324C>T (p.Leu108=) n.483C>T n.506C>T c.253C>T (p.His85Tyr) c.189C>T (p.Leu63=) c.137-410C>T (n.137-410C>T) c.445C>T (p.His149Tyr) n.363C>T c.111C>T (p.Leu37=) c.663C>T (p.Leu221=) c.576C>T (p.Leu192=) c.429C>T (p.Leu143=) c.375C>T (p.Leu125=) | dbSNP gnomAD v4 |
X | g.48511482_48511483del | CA2579599639 | PORCN | c.324_325del (p.Met109GlyfsTer2) n.483_484del n.506_507del c.253_254del (p.His85TrpfsTer7) c.189_190del (p.Met64GlyfsTer2) c.137-410_137-409del (n.137-410_137-409del) c.445_446del (p.His149TrpfsTer7) n.363_364del c.111_112del (p.Met38GlyfsTer2) c.663_664del (p.Met222GlyfsTer2) c.576_577del (p.Met193GlyfsTer2) c.429_430del (p.Met144GlyfsTer2) c.375_376del (p.Met126GlyfsTer2) | |
X | g.48511483A= | CA2428293335 | PORCN | c.325A= (p.Met109=) n.484A= n.507A= c.254A= (p.His85=) c.190A= (p.Met64=) c.137-409A= (n.137-409A=) c.446A= (p.His149=) n.364A= c.112A= (p.Met38=) c.664A= (p.Met222=) c.577A= (p.Met193=) c.430A= (p.Met144=) c.376A= (p.Met126=) | |
X | g.48511483A>C | CA412843321 | PORCN | c.325A>C (p.Met109Leu) n.484A>C n.507A>C c.254A>C (p.His85Pro) c.190A>C (p.Met64Leu) c.137-409A>C (n.137-409A>C) c.446A>C (p.His149Pro) n.364A>C c.112A>C (p.Met38Leu) c.664A>C (p.Met222Leu) c.577A>C (p.Met193Leu) c.430A>C (p.Met144Leu) c.376A>C (p.Met126Leu) | |
X | g.48511483A>G | CA10402724 | PORCN | c.325A>G (p.Met109Val) n.484A>G n.507A>G c.254A>G (p.His85Arg) c.190A>G (p.Met64Val) c.137-409A>G (n.137-409A>G) c.446A>G (p.His149Arg) n.364A>G c.112A>G (p.Met38Val) c.664A>G (p.Met222Val) c.577A>G (p.Met193Val) c.430A>G (p.Met144Val) c.376A>G (p.Met126Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48511483A>T | CA412843324 | PORCN | c.325A>T (p.Met109Leu) n.484A>T n.507A>T c.254A>T (p.His85Leu) c.190A>T (p.Met64Leu) c.137-409A>T (n.137-409A>T) c.446A>T (p.His149Leu) n.364A>T c.112A>T (p.Met38Leu) c.664A>T (p.Met222Leu) c.577A>T (p.Met193Leu) c.430A>T (p.Met144Leu) c.376A>T (p.Met126Leu) | |
X | g.48511484T>A | CA412843331 | PORCN | c.326T>A (p.Met109Lys) n.485T>A n.508T>A c.255T>A (p.His85Gln) c.191T>A (p.Met64Lys) c.137-408T>A (n.137-408T>A) c.447T>A (p.His149Gln) n.365T>A c.113T>A (p.Met38Lys) c.665T>A (p.Met222Lys) c.578T>A (p.Met193Lys) c.431T>A (p.Met144Lys) c.377T>A (p.Met126Lys) | COSMIC |
X | g.48511484T>C | CA412843327 | PORCN | c.326T>C (p.Met109Thr) n.485T>C n.508T>C c.255T>C (p.His85=) c.191T>C (p.Met64Thr) c.137-408T>C (n.137-408T>C) c.447T>C (p.His149=) n.365T>C c.113T>C (p.Met38Thr) c.665T>C (p.Met222Thr) c.578T>C (p.Met193Thr) c.431T>C (p.Met144Thr) c.377T>C (p.Met126Thr) | |
X | g.48511484T>G | CA412843329 | PORCN | c.326T>G (p.Met109Arg) n.485T>G n.508T>G c.255T>G (p.His85Gln) c.191T>G (p.Met64Arg) c.137-408T>G (n.137-408T>G) c.447T>G (p.His149Gln) n.365T>G c.113T>G (p.Met38Arg) c.665T>G (p.Met222Arg) c.578T>G (p.Met193Arg) c.431T>G (p.Met144Arg) c.377T>G (p.Met126Arg) | |
X | g.48511485_48511489del | CA2693629297 | PORCN | c.327_329+2del n.486_488+2del n.509_511+2del c.256_258+2del c.192_194+2del c.137-407_137-403del (n.137-407_137-403del) c.448_450+2del n.366_368+2del c.114_116+2del c.666_668+2del c.579_581+2del c.432_434+2del c.378_380+2del | gnomAD v4 |
X | g.48511485G>A | CA10402725 | PORCN | c.327G>A (p.Met109Ile) n.486G>A n.509G>A c.256G>A (p.Gly86Arg) c.192G>A (p.Met64Ile) c.137-407G>A (n.137-407G>A) c.448G>A (p.Gly150Arg) n.366G>A c.114G>A (p.Met38Ile) c.666G>A (p.Met222Ile) c.579G>A (p.Met193Ile) c.432G>A (p.Met144Ile) c.378G>A (p.Met126Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48511485G>C | CA412843335 | PORCN | c.327G>C (p.Met109Ile) n.486G>C n.509G>C c.256G>C (p.Gly86Arg) c.192G>C (p.Met64Ile) c.137-407G>C (n.137-407G>C) c.448G>C (p.Gly150Arg) n.366G>C c.114G>C (p.Met38Ile) c.666G>C (p.Met222Ile) c.579G>C (p.Met193Ile) c.432G>C (p.Met144Ile) c.378G>C (p.Met126Ile) | dbSNP gnomAD v2 |
X | g.48511485G= | CA2428293336 | PORCN | c.327G= (p.Met109=) n.486G= n.509G= c.256G= (p.Gly86=) c.192G= (p.Met64=) c.137-407G= (n.137-407G=) c.448G= (p.Gly150=) n.366G= c.114G= (p.Met38=) c.666G= (p.Met222=) c.579G= (p.Met193=) c.432G= (p.Met144=) c.378G= (p.Met126=) | |
X | g.48511485G>T | CA412843337 | PORCN | c.327G>T (p.Met109Ile) n.486G>T n.509G>T c.256G>T (p.Gly86Trp) c.192G>T (p.Met64Ile) c.137-407G>T (n.137-407G>T) c.448G>T (p.Gly150Trp) n.366G>T c.114G>T (p.Met38Ile) c.666G>T (p.Met222Ile) c.579G>T (p.Met193Ile) c.432G>T (p.Met144Ile) c.378G>T (p.Met126Ile) | |
X | g.48511488del | CA2579599640 | PORCN | c.329+1del n.488+1del n.511+1del c.258+1del c.194+1del c.137-404del (n.137-404del) c.450+1del n.368+1del c.116+1del c.668+1del c.581+1del c.434+1del c.380+1del | |
X | g.48511486G>A | CA412843339 | PORCN | c.328G>A (p.Gly110Ser) n.487G>A n.510G>A c.257G>A (p.Gly86Glu) c.193G>A (p.Gly65Ser) c.137-406G>A (n.137-406G>A) c.449G>A (p.Gly150Glu) n.367G>A c.115G>A (p.Gly39Ser) c.667G>A (p.Gly223Ser) c.580G>A (p.Gly194Ser) c.433G>A (p.Gly145Ser) c.379G>A (p.Gly127Ser) | |
X | g.48511486G>C | CA412843341 | PORCN | c.328G>C (p.Gly110Arg) n.487G>C n.510G>C c.257G>C (p.Gly86Ala) c.193G>C (p.Gly65Arg) c.137-406G>C (n.137-406G>C) c.449G>C (p.Gly150Ala) n.367G>C c.115G>C (p.Gly39Arg) c.667G>C (p.Gly223Arg) c.580G>C (p.Gly194Arg) c.433G>C (p.Gly145Arg) c.379G>C (p.Gly127Arg) | |
X | g.48511486G>T | CA412843343 | PORCN | c.328G>T (p.Gly110Cys) n.487G>T n.510G>T c.257G>T (p.Gly86Val) c.193G>T (p.Gly65Cys) c.137-406G>T (n.137-406G>T) c.449G>T (p.Gly150Val) n.367G>T c.115G>T (p.Gly39Cys) c.667G>T (p.Gly223Cys) c.580G>T (p.Gly194Cys) c.433G>T (p.Gly145Cys) c.379G>T (p.Gly127Cys) | |
X | g.48511487G>A | CA412843345 | PORCN | c.329G>A (p.Gly110Asp) n.488G>A n.511G>A c.258G>A (p.Gly86=) c.194G>A (p.Gly65Asp) c.137-405G>A (n.137-405G>A) c.450G>A (p.Gly150=) n.368G>A c.116G>A (p.Gly39Asp) c.668G>A (p.Gly223Asp) c.581G>A (p.Gly194Asp) c.434G>A (p.Gly145Asp) c.380G>A (p.Gly127Asp) | |
X | g.48511487G>C | CA412843347 | PORCN | c.329G>C (p.Gly110Ala) n.488G>C n.511G>C c.258G>C (p.Gly86=) c.194G>C (p.Gly65Ala) c.137-405G>C (n.137-405G>C) c.450G>C (p.Gly150=) n.368G>C c.116G>C (p.Gly39Ala) c.668G>C (p.Gly223Ala) c.581G>C (p.Gly194Ala) c.434G>C (p.Gly145Ala) c.380G>C (p.Gly127Ala) | |
X | g.48511487G>T | CA412843349 | PORCN | c.329G>T (p.Gly110Val) n.488G>T n.511G>T c.258G>T (p.Gly86=) c.194G>T (p.Gly65Val) c.137-405G>T (n.137-405G>T) c.450G>T (p.Gly150=) n.368G>T c.116G>T (p.Gly39Val) c.668G>T (p.Gly223Val) c.581G>T (p.Gly194Val) c.434G>T (p.Gly145Val) c.380G>T (p.Gly127Val) | |
X | g.48511488G>A | CA412843351 | PORCN | c.329+1G>A (n.329+1G>A) n.488+1G>A n.511+1G>A c.258+1G>A (n.258+1G>A) c.194+1G>A (n.194+1G>A) c.137-404G>A (n.137-404G>A) c.450+1G>A (n.450+1G>A) n.368+1G>A c.116+1G>A (n.116+1G>A) c.668+1G>A (n.668+1G>A) c.581+1G>A (n.581+1G>A) c.434+1G>A (n.434+1G>A) c.380+1G>A (n.380+1G>A) | ClinVar dbSNP |
X | g.48511488G>C | CA412843352 | PORCN | c.329+1G>C (n.329+1G>C) n.488+1G>C n.511+1G>C c.258+1G>C (n.258+1G>C) c.194+1G>C (n.194+1G>C) c.137-404G>C (n.137-404G>C) c.450+1G>C (n.450+1G>C) n.368+1G>C c.116+1G>C (n.116+1G>C) c.668+1G>C (n.668+1G>C) c.581+1G>C (n.581+1G>C) c.434+1G>C (n.434+1G>C) c.380+1G>C (n.380+1G>C) | ClinVar |
X | g.48511488G= | CA2428293337 | PORCN | c.329+1G= (n.329+1G=) n.488+1G= n.511+1G= c.258+1G= (n.258+1G=) c.194+1G= (n.194+1G=) c.137-404G= (n.137-404G=) c.450+1G= (n.450+1G=) n.368+1G= c.116+1G= (n.116+1G=) c.668+1G= (n.668+1G=) c.581+1G= (n.581+1G=) c.434+1G= (n.434+1G=) c.380+1G= (n.380+1G=) | |
X | g.48511488G>T | CA412843354 | PORCN | c.329+1G>T (n.329+1G>T) n.488+1G>T n.511+1G>T c.258+1G>T (n.258+1G>T) c.194+1G>T (n.194+1G>T) c.137-404G>T (n.137-404G>T) c.450+1G>T (n.450+1G>T) n.368+1G>T c.116+1G>T (n.116+1G>T) c.668+1G>T (n.668+1G>T) c.581+1G>T (n.581+1G>T) c.434+1G>T (n.434+1G>T) c.380+1G>T (n.380+1G>T) | |
X | g.48511489T>A | CA412843359 | PORCN | c.329+2T>A (n.329+2T>A) n.488+2T>A n.511+2T>A c.258+2T>A (n.258+2T>A) c.194+2T>A (n.194+2T>A) c.137-403T>A (n.137-403T>A) c.450+2T>A (n.450+2T>A) n.368+2T>A c.116+2T>A (n.116+2T>A) c.668+2T>A (n.668+2T>A) c.581+2T>A (n.581+2T>A) c.434+2T>A (n.434+2T>A) c.380+2T>A (n.380+2T>A) | |
X | g.48511489T>C | CA412843358 | PORCN | c.329+2T>C (n.329+2T>C) n.488+2T>C n.511+2T>C c.258+2T>C (n.258+2T>C) c.194+2T>C (n.194+2T>C) c.137-403T>C (n.137-403T>C) c.450+2T>C (n.450+2T>C) n.368+2T>C c.116+2T>C (n.116+2T>C) c.668+2T>C (n.668+2T>C) c.581+2T>C (n.581+2T>C) c.434+2T>C (n.434+2T>C) c.380+2T>C (n.380+2T>C) | |
X | g.48511489T>G | CA412843357 | PORCN | c.329+2T>G (n.329+2T>G) n.488+2T>G n.511+2T>G c.258+2T>G (n.258+2T>G) c.194+2T>G (n.194+2T>G) c.137-403T>G (n.137-403T>G) c.450+2T>G (n.450+2T>G) n.368+2T>G c.116+2T>G (n.116+2T>G) c.668+2T>G (n.668+2T>G) c.581+2T>G (n.581+2T>G) c.434+2T>G (n.434+2T>G) c.380+2T>G (n.380+2T>G) | |
X | g.48511490A>G | CA2580617029 | PORCN | c.329+3A>G (n.329+3A>G) n.488+3A>G n.511+3A>G c.258+3A>G (n.258+3A>G) c.194+3A>G (n.194+3A>G) c.137-402A>G (n.137-402A>G) c.450+3A>G (n.450+3A>G) n.368+3A>G c.116+3A>G (n.116+3A>G) c.668+3A>G (n.668+3A>G) c.581+3A>G (n.581+3A>G) c.434+3A>G (n.434+3A>G) c.380+3A>G (n.380+3A>G) | ClinVar |
X | g.48511490_48511491insCCCCA | CA2693629298 | PORCN | c.329+3_329+4insCCCCA (n.329+3_329+4insCCCCA) n.488+3_488+4insCCCCA n.511+3_511+4insCCCCA c.258+3_258+4insCCCCA (n.258+3_258+4insCCCCA) c.194+3_194+4insCCCCA (n.194+3_194+4insCCCCA) c.137-402_137-401insCCCCA (n.137-402_137-401insCCCCA) c.450+3_450+4insCCCCA (n.450+3_450+4insCCCCA) n.368+3_368+4insCCCCA c.116+3_116+4insCCCCA (n.116+3_116+4insCCCCA) c.668+3_668+4insCCCCA (n.668+3_668+4insCCCCA) c.581+3_581+4insCCCCA (n.581+3_581+4insCCCCA) c.434+3_434+4insCCCCA (n.434+3_434+4insCCCCA) c.380+3_380+4insCCCCA (n.380+3_380+4insCCCCA) | gnomAD v4 |
X | g.48511492G>A | CA2693629299 | PORCN | c.329+5G>A (n.329+5G>A) n.488+5G>A n.511+5G>A c.258+5G>A (n.258+5G>A) c.194+5G>A (n.194+5G>A) c.137-400G>A (n.137-400G>A) c.450+5G>A (n.450+5G>A) n.368+5G>A c.116+5G>A (n.116+5G>A) c.668+5G>A (n.668+5G>A) c.581+5G>A (n.581+5G>A) c.434+5G>A (n.434+5G>A) c.380+5G>A (n.380+5G>A) | gnomAD v4 |