Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48511366C>A | CA412841966 | PORCN | c.208C>A (p.Leu70Met) n.367C>A n.390C>A c.137C>A (p.Ala46Asp) c.73C>A (p.Leu25Met) c.137-526C>A (n.137-526C>A) c.329C>A (p.Ala110Asp) n.558C>A n.247C>A c.-6C>A (n.-6C>A) c.547C>A (p.Leu183Met) c.460C>A (p.Leu154Met) c.313C>A (p.Leu105Met) c.259C>A (p.Leu87Met) | |
X | g.48511366C>G | CA412841968 | PORCN | c.208C>G (p.Leu70Val) n.367C>G n.390C>G c.137C>G (p.Ala46Gly) c.73C>G (p.Leu25Val) c.137-526C>G (n.137-526C>G) c.329C>G (p.Ala110Gly) n.558C>G n.247C>G c.-6C>G (n.-6C>G) c.547C>G (p.Leu183Val) c.460C>G (p.Leu154Val) c.313C>G (p.Leu105Val) c.259C>G (p.Leu87Val) | |
X | g.48511366C>T | CA516009985 | PORCN | c.208C>T (p.Leu70=) n.367C>T n.390C>T c.137C>T (p.Ala46Val) c.73C>T (p.Leu25=) c.137-526C>T (n.137-526C>T) c.329C>T (p.Ala110Val) n.558C>T n.247C>T c.-6C>T (n.-6C>T) c.547C>T (p.Leu183=) c.460C>T (p.Leu154=) c.313C>T (p.Leu105=) c.259C>T (p.Leu87=) | |
X | g.48511367T>A | CA412841971 | PORCN | c.209T>A (p.Leu70Gln) n.368T>A n.391T>A c.138T>A (p.Ala46=) c.74T>A (p.Leu25Gln) c.137-525T>A (n.137-525T>A) c.330T>A (p.Ala110=) n.559T>A n.248T>A c.-5T>A (n.-5T>A) c.548T>A (p.Leu183Gln) c.461T>A (p.Leu154Gln) c.314T>A (p.Leu105Gln) c.260T>A (p.Leu87Gln) | |
X | g.48511367T>C | CA412841972 | PORCN | c.209T>C (p.Leu70Pro) n.368T>C n.391T>C c.138T>C (p.Ala46=) c.74T>C (p.Leu25Pro) c.137-525T>C (n.137-525T>C) c.330T>C (p.Ala110=) n.559T>C n.248T>C c.-5T>C (n.-5T>C) c.548T>C (p.Leu183Pro) c.461T>C (p.Leu154Pro) c.314T>C (p.Leu105Pro) c.260T>C (p.Leu87Pro) | |
X | g.48511367T>G | CA10402710 | PORCN | c.209T>G (p.Leu70Arg) n.368T>G n.391T>G c.138T>G (p.Ala46=) c.74T>G (p.Leu25Arg) c.137-525T>G (n.137-525T>G) c.330T>G (p.Ala110=) n.559T>G n.248T>G c.-5T>G (n.-5T>G) c.548T>G (p.Leu183Arg) c.461T>G (p.Leu154Arg) c.314T>G (p.Leu105Arg) c.260T>G (p.Leu87Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48511367T= | CA2428293301 | PORCN | c.209T= (p.Leu70=) n.368T= n.391T= c.138T= (p.Ala46=) c.74T= (p.Leu25=) c.137-525T= (n.137-525T=) c.330T= (p.Ala110=) n.559T= n.248T= c.-5T= (n.-5T=) c.548T= (p.Leu183=) c.461T= (p.Leu154=) c.314T= (p.Leu105=) c.260T= (p.Leu87=) | |
X | g.48511368G>A | CA516009992 | PORCN | c.210G>A (p.Leu70=) n.369G>A n.392G>A c.139G>A (p.Ala47Thr) c.75G>A (p.Leu25=) c.137-524G>A (n.137-524G>A) c.331G>A (p.Ala111Thr) n.560G>A n.249G>A c.-4G>A (n.-4G>A) c.549G>A (p.Leu183=) c.462G>A (p.Leu154=) c.315G>A (p.Leu105=) c.261G>A (p.Leu87=) | gnomAD v4 |
X | g.48511368G>C | CA516009994 | PORCN | c.210G>C (p.Leu70=) n.369G>C n.392G>C c.139G>C (p.Ala47Pro) c.75G>C (p.Leu25=) c.137-524G>C (n.137-524G>C) c.331G>C (p.Ala111Pro) n.560G>C n.249G>C c.-4G>C (n.-4G>C) c.549G>C (p.Leu183=) c.462G>C (p.Leu154=) c.315G>C (p.Leu105=) c.261G>C (p.Leu87=) | |
X | g.48511368G>T | CA516009996 | PORCN | c.210G>T (p.Leu70=) n.369G>T n.392G>T c.139G>T (p.Ala47Ser) c.75G>T (p.Leu25=) c.137-524G>T (n.137-524G>T) c.331G>T (p.Ala111Ser) n.560G>T n.249G>T c.-4G>T (n.-4G>T) c.549G>T (p.Leu183=) c.462G>T (p.Leu154=) c.315G>T (p.Leu105=) c.261G>T (p.Leu87=) | |
X | g.48511369C>A | CA412841974 | PORCN | c.211C>A (p.His71Asn) n.370C>A n.393C>A c.140C>A (p.Ala47Glu) c.76C>A (p.His26Asn) c.137-523C>A (n.137-523C>A) c.332C>A (p.Ala111Glu) n.561C>A n.250C>A c.-3C>A (n.-3C>A) c.550C>A (p.His184Asn) c.463C>A (p.His155Asn) c.316C>A (p.His106Asn) c.262C>A (p.His88Asn) | |
X | g.48511369C>G | CA412841976 | PORCN | c.211C>G (p.His71Asp) n.370C>G n.393C>G c.140C>G (p.Ala47Gly) c.76C>G (p.His26Asp) c.137-523C>G (n.137-523C>G) c.332C>G (p.Ala111Gly) n.561C>G n.250C>G c.-3C>G (n.-3C>G) c.550C>G (p.His184Asp) c.463C>G (p.His155Asp) c.316C>G (p.His106Asp) c.262C>G (p.His88Asp) | |
X | g.48511369C>T | CA412841977 | PORCN | c.211C>T (p.His71Tyr) n.370C>T n.393C>T c.140C>T (p.Ala47Val) c.76C>T (p.His26Tyr) c.137-523C>T (n.137-523C>T) c.332C>T (p.Ala111Val) n.561C>T n.250C>T c.-3C>T (n.-3C>T) c.550C>T (p.His184Tyr) c.463C>T (p.His155Tyr) c.316C>T (p.His106Tyr) c.262C>T (p.His88Tyr) | |
X | g.48511370A>C | CA412841979 | PORCN | c.212A>C (p.His71Pro) n.371A>C n.394A>C c.141A>C (p.Ala47=) c.77A>C (p.His26Pro) c.137-522A>C (n.137-522A>C) c.333A>C (p.Ala111=) n.562A>C n.251A>C c.-2A>C (n.-2A>C) c.551A>C (p.His184Pro) c.464A>C (p.His155Pro) c.317A>C (p.His106Pro) c.263A>C (p.His88Pro) | |
X | g.48511370A>G | CA412841981 | PORCN | c.212A>G (p.His71Arg) n.371A>G n.394A>G c.141A>G (p.Ala47=) c.77A>G (p.His26Arg) c.137-522A>G (n.137-522A>G) c.333A>G (p.Ala111=) n.562A>G n.251A>G c.-2A>G (n.-2A>G) c.551A>G (p.His184Arg) c.464A>G (p.His155Arg) c.317A>G (p.His106Arg) c.263A>G (p.His88Arg) | |
X | g.48511370A>T | CA412841983 | PORCN | c.212A>T (p.His71Leu) n.371A>T n.394A>T c.141A>T (p.Ala47=) c.77A>T (p.His26Leu) c.137-522A>T (n.137-522A>T) c.333A>T (p.Ala111=) n.562A>T n.251A>T c.-2A>T (n.-2A>T) c.551A>T (p.His184Leu) c.464A>T (p.His155Leu) c.317A>T (p.His106Leu) c.263A>T (p.His88Leu) | |
X | g.48511371C>A | CA412841986 | PORCN | c.213C>A (p.His71Gln) n.372C>A n.395C>A c.142C>A (p.His48Asn) c.78C>A (p.His26Gln) c.137-521C>A (n.137-521C>A) c.334C>A (p.His112Asn) n.563C>A n.252C>A c.-1C>A (n.-1C>A) c.552C>A (p.His184Gln) c.465C>A (p.His155Gln) c.318C>A (p.His106Gln) c.264C>A (p.His88Gln) | |
X | g.48511371C>G | CA412841985 | PORCN | c.213C>G (p.His71Gln) n.372C>G n.395C>G c.142C>G (p.His48Asp) c.78C>G (p.His26Gln) c.137-521C>G (n.137-521C>G) c.334C>G (p.His112Asp) n.563C>G n.252C>G c.-1C>G (n.-1C>G) c.552C>G (p.His184Gln) c.465C>G (p.His155Gln) c.318C>G (p.His106Gln) c.264C>G (p.His88Gln) | |
X | g.48511371C>T | CA516010009 | PORCN | c.213C>T (p.His71=) n.372C>T n.395C>T c.142C>T (p.His48Tyr) c.78C>T (p.His26=) c.137-521C>T (n.137-521C>T) c.334C>T (p.His112Tyr) n.563C>T n.252C>T c.-1C>T (n.-1C>T) c.552C>T (p.His184=) c.465C>T (p.His155=) c.318C>T (p.His106=) c.264C>T (p.His88=) | |
X | g.48511372A>C | CA412841988 | PORCN | c.214A>C (p.Met72Leu) n.373A>C n.396A>C c.143A>C (p.His48Pro) c.79A>C (p.Met27Leu) c.137-520A>C (n.137-520A>C) c.335A>C (p.His112Pro) n.564A>C n.253A>C c.1A>C (p.Met1Leu) c.553A>C (p.Met185Leu) c.466A>C (p.Met156Leu) c.319A>C (p.Met107Leu) c.265A>C (p.Met89Leu) | |
X | g.48511372A>G | CA412841990 | PORCN | c.214A>G (p.Met72Val) n.373A>G n.396A>G c.143A>G (p.His48Arg) c.79A>G (p.Met27Val) c.137-520A>G (n.137-520A>G) c.335A>G (p.His112Arg) n.564A>G n.253A>G c.1A>G (p.Met1Val) c.553A>G (p.Met185Val) c.466A>G (p.Met156Val) c.319A>G (p.Met107Val) c.265A>G (p.Met89Val) | |
X | g.48511372A>T | CA412841992 | PORCN | c.214A>T (p.Met72Leu) n.373A>T n.396A>T c.143A>T (p.His48Leu) c.79A>T (p.Met27Leu) c.137-520A>T (n.137-520A>T) c.335A>T (p.His112Leu) n.564A>T n.253A>T c.1A>T (p.Met1Leu) c.553A>T (p.Met185Leu) c.466A>T (p.Met156Leu) c.319A>T (p.Met107Leu) c.265A>T (p.Met89Leu) | |
X | g.48511373T>A | CA412841994 | PORCN | c.215T>A (p.Met72Lys) n.374T>A n.397T>A c.144T>A (p.His48Gln) c.80T>A (p.Met27Lys) c.137-519T>A (n.137-519T>A) c.336T>A (p.His112Gln) n.565T>A n.254T>A c.2T>A (p.Met1Lys) c.554T>A (p.Met185Lys) c.467T>A (p.Met156Lys) c.320T>A (p.Met107Lys) c.266T>A (p.Met89Lys) | |
X | g.48511373T>C | CA412841995 | PORCN | c.215T>C (p.Met72Thr) n.374T>C n.397T>C c.144T>C (p.His48=) c.80T>C (p.Met27Thr) c.137-519T>C (n.137-519T>C) c.336T>C (p.His112=) n.565T>C n.254T>C c.2T>C (p.Met1Thr) c.554T>C (p.Met185Thr) c.467T>C (p.Met156Thr) c.320T>C (p.Met107Thr) c.266T>C (p.Met89Thr) | |
X | g.48511373T>G | CA412841997 | PORCN | c.215T>G (p.Met72Arg) n.374T>G n.397T>G c.144T>G (p.His48Gln) c.80T>G (p.Met27Arg) c.137-519T>G (n.137-519T>G) c.336T>G (p.His112Gln) n.565T>G n.254T>G c.2T>G (p.Met1Arg) c.554T>G (p.Met185Arg) c.467T>G (p.Met156Arg) c.320T>G (p.Met107Arg) c.266T>G (p.Met89Arg) | |
X | g.48511374G>A | CA412842002 | PORCN | c.216G>A (p.Met72Ile) n.375G>A n.398G>A c.145G>A (p.Gly49Ser) c.81G>A (p.Met27Ile) c.137-518G>A (n.137-518G>A) c.337G>A (p.Gly113Ser) n.566G>A n.255G>A c.3G>A (p.Met1Ile) c.555G>A (p.Met185Ile) c.468G>A (p.Met156Ile) c.321G>A (p.Met107Ile) c.267G>A (p.Met89Ile) | |
X | g.48511374G>C | CA412842000 | PORCN | c.216G>C (p.Met72Ile) n.375G>C n.398G>C c.145G>C (p.Gly49Arg) c.81G>C (p.Met27Ile) c.137-518G>C (n.137-518G>C) c.337G>C (p.Gly113Arg) n.566G>C n.255G>C c.3G>C (p.Met1Ile) c.555G>C (p.Met185Ile) c.468G>C (p.Met156Ile) c.321G>C (p.Met107Ile) c.267G>C (p.Met89Ile) | |
X | g.48511374G>T | CA412842001 | PORCN | c.216G>T (p.Met72Ile) n.375G>T n.398G>T c.145G>T (p.Gly49Cys) c.81G>T (p.Met27Ile) c.137-518G>T (n.137-518G>T) c.337G>T (p.Gly113Cys) n.566G>T n.255G>T c.3G>T (p.Met1Ile) c.555G>T (p.Met185Ile) c.468G>T (p.Met156Ile) c.321G>T (p.Met107Ile) c.267G>T (p.Met89Ile) | |
X | g.48511375G>A | CA412842003 | PORCN | c.217G>A (p.Val73Ile) n.376G>A n.399G>A c.146G>A (p.Gly49Asp) c.82G>A (p.Val28Ile) c.137-517G>A (n.137-517G>A) c.338G>A (p.Gly113Asp) n.567G>A n.256G>A c.4G>A (p.Val2Ile) c.556G>A (p.Val186Ile) c.469G>A (p.Val157Ile) c.322G>A (p.Val108Ile) c.268G>A (p.Val90Ile) | |
X | g.48511375G>C | CA412842005 | PORCN | c.217G>C (p.Val73Leu) n.376G>C n.399G>C c.146G>C (p.Gly49Ala) c.82G>C (p.Val28Leu) c.137-517G>C (n.137-517G>C) c.338G>C (p.Gly113Ala) n.567G>C n.256G>C c.4G>C (p.Val2Leu) c.556G>C (p.Val186Leu) c.469G>C (p.Val157Leu) c.322G>C (p.Val108Leu) c.268G>C (p.Val90Leu) | |
X | g.48511375G>T | CA412842007 | PORCN | c.217G>T (p.Val73Phe) n.376G>T n.399G>T c.146G>T (p.Gly49Val) c.82G>T (p.Val28Phe) c.137-517G>T (n.137-517G>T) c.338G>T (p.Gly113Val) n.567G>T n.256G>T c.4G>T (p.Val2Phe) c.556G>T (p.Val186Phe) c.469G>T (p.Val157Phe) c.322G>T (p.Val108Phe) c.268G>T (p.Val90Phe) | |
X | g.48511376T>A | CA412842009 | PORCN | c.218T>A (p.Val73Asp) n.377T>A n.400T>A c.147T>A (p.Gly49=) c.83T>A (p.Val28Asp) c.137-516T>A (n.137-516T>A) c.339T>A (p.Gly113=) n.257T>A c.5T>A (p.Val2Asp) c.557T>A (p.Val186Asp) c.470T>A (p.Val157Asp) c.323T>A (p.Val108Asp) c.269T>A (p.Val90Asp) | |
X | g.48511376T>C | CA412842010 | PORCN | c.218T>C (p.Val73Ala) n.377T>C n.400T>C c.147T>C (p.Gly49=) c.83T>C (p.Val28Ala) c.137-516T>C (n.137-516T>C) c.339T>C (p.Gly113=) n.257T>C c.5T>C (p.Val2Ala) c.557T>C (p.Val186Ala) c.470T>C (p.Val157Ala) c.323T>C (p.Val108Ala) c.269T>C (p.Val90Ala) | |
X | g.48511376T>G | CA412842011 | PORCN | c.218T>G (p.Val73Gly) n.377T>G n.400T>G c.147T>G (p.Gly49=) c.83T>G (p.Val28Gly) c.137-516T>G (n.137-516T>G) c.339T>G (p.Gly113=) n.257T>G c.5T>G (p.Val2Gly) c.557T>G (p.Val186Gly) c.470T>G (p.Val157Gly) c.323T>G (p.Val108Gly) c.269T>G (p.Val90Gly) | |
X | g.48511377T>A | CA516010035 | PORCN | c.219T>A (p.Val73=) n.378T>A n.401T>A c.148T>A (p.Leu50Met) c.84T>A (p.Val28=) c.137-515T>A (n.137-515T>A) c.340T>A (p.Leu114Met) n.258T>A c.6T>A (p.Val2=) c.558T>A (p.Val186=) c.471T>A (p.Val157=) c.324T>A (p.Val108=) c.270T>A (p.Val90=) | |
X | g.48511377T>C | CA516010037 | PORCN | c.219T>C (p.Val73=) n.378T>C n.401T>C c.148T>C (p.Leu50=) c.84T>C (p.Val28=) c.137-515T>C (n.137-515T>C) c.340T>C (p.Leu114=) n.258T>C c.6T>C (p.Val2=) c.558T>C (p.Val186=) c.471T>C (p.Val157=) c.324T>C (p.Val108=) c.270T>C (p.Val90=) | |
X | g.48511377T>G | CA516010039 | PORCN | c.219T>G (p.Val73=) n.378T>G n.401T>G c.148T>G (p.Leu50Val) c.84T>G (p.Val28=) c.137-515T>G (n.137-515T>G) c.340T>G (p.Leu114Val) n.258T>G c.6T>G (p.Val2=) c.558T>G (p.Val186=) c.471T>G (p.Val157=) c.324T>G (p.Val108=) c.270T>G (p.Val90=) | |
X | g.48511378T>A | CA412842013 | PORCN | c.220T>A (p.Trp74Arg) n.379T>A n.402T>A c.149T>A (p.Leu50Ter) c.85T>A (p.Trp29Arg) c.137-514T>A (n.137-514T>A) c.341T>A (p.Leu114Ter) n.259T>A c.7T>A (p.Trp3Arg) c.559T>A (p.Trp187Arg) c.472T>A (p.Trp158Arg) c.325T>A (p.Trp109Arg) c.271T>A (p.Trp91Arg) | |
X | g.48511378T>C | CA412842014 | PORCN | c.220T>C (p.Trp74Arg) n.379T>C n.402T>C c.149T>C (p.Leu50Ser) c.85T>C (p.Trp29Arg) c.137-514T>C (n.137-514T>C) c.341T>C (p.Leu114Ser) n.259T>C c.7T>C (p.Trp3Arg) c.559T>C (p.Trp187Arg) c.472T>C (p.Trp158Arg) c.325T>C (p.Trp109Arg) c.271T>C (p.Trp91Arg) | |
X | g.48511378T>G | CA412842012 | PORCN | c.220T>G (p.Trp74Gly) n.379T>G n.402T>G c.149T>G (p.Leu50Trp) c.85T>G (p.Trp29Gly) c.137-514T>G (n.137-514T>G) c.341T>G (p.Leu114Trp) n.259T>G c.7T>G (p.Trp3Gly) c.559T>G (p.Trp187Gly) c.472T>G (p.Trp158Gly) c.325T>G (p.Trp109Gly) c.271T>G (p.Trp91Gly) | |
X | g.48511379G>A | CA412842015 | PORCN | c.221G>A (p.Trp74Ter) n.380G>A n.403G>A c.150G>A (p.Leu50=) c.86G>A (p.Trp29Ter) c.137-513G>A (n.137-513G>A) c.342G>A (p.Leu114=) n.260G>A c.8G>A (p.Trp3Ter) c.560G>A (p.Trp187Ter) c.473G>A (p.Trp158Ter) c.326G>A (p.Trp109Ter) c.272G>A (p.Trp91Ter) | |
X | g.48511379G>C | CA412842017 | PORCN | c.221G>C (p.Trp74Ser) n.380G>C n.403G>C c.150G>C (p.Leu50Phe) c.86G>C (p.Trp29Ser) c.137-513G>C (n.137-513G>C) c.342G>C (p.Leu114Phe) n.260G>C c.8G>C (p.Trp3Ser) c.560G>C (p.Trp187Ser) c.473G>C (p.Trp158Ser) c.326G>C (p.Trp109Ser) c.272G>C (p.Trp91Ser) | |
X | g.48511379G>T | CA412842016 | PORCN | c.221G>T (p.Trp74Leu) n.380G>T n.403G>T c.150G>T (p.Leu50Phe) c.86G>T (p.Trp29Leu) c.137-513G>T (n.137-513G>T) c.342G>T (p.Leu114Phe) n.260G>T c.8G>T (p.Trp3Leu) c.560G>T (p.Trp187Leu) c.473G>T (p.Trp158Leu) c.326G>T (p.Trp109Leu) c.272G>T (p.Trp91Leu) | |
X | g.48511381del | CA516010047 | PORCN | c.223del (p.Val75SerfsTer?) n.382del n.405del c.152del (p.Gly51ValfsTer?) c.88del (p.Val30SerfsTer?) c.137-511del (n.137-511del) c.344del (p.Gly115ValfsTer?) n.262del c.10del (p.Val4SerfsTer?) c.562del (p.Val188SerfsTer?) c.475del (p.Val159SerfsTer?) c.328del (p.Val110SerfsTer?) c.274del (p.Val92SerfsTer?) | COSMIC |
X | g.48511380G>A | CA255495 | PORCN | c.222G>A (p.Trp74Ter) n.381G>A n.404G>A c.151G>A (p.Gly51Ser) c.87G>A (p.Trp29Ter) c.137-512G>A (n.137-512G>A) c.343G>A (p.Gly115Ser) n.261G>A c.9G>A (p.Trp3Ter) c.561G>A (p.Trp187Ter) c.474G>A (p.Trp158Ter) c.327G>A (p.Trp109Ter) c.273G>A (p.Trp91Ter) | ClinVar dbSNP |
X | g.48511380G>C | CA412842019 | PORCN | c.222G>C (p.Trp74Cys) n.381G>C n.404G>C c.151G>C (p.Gly51Arg) c.87G>C (p.Trp29Cys) c.137-512G>C (n.137-512G>C) c.343G>C (p.Gly115Arg) n.261G>C c.9G>C (p.Trp3Cys) c.561G>C (p.Trp187Cys) c.474G>C (p.Trp158Cys) c.327G>C (p.Trp109Cys) c.273G>C (p.Trp91Cys) | |
X | g.48511380G= | CA2428293302 | PORCN | c.222G= (p.Trp74=) n.381G= n.404G= c.151G= (p.Gly51=) c.87G= (p.Trp29=) c.137-512G= (n.137-512G=) c.343G= (p.Gly115=) n.261G= c.9G= (p.Trp3=) c.561G= (p.Trp187=) c.474G= (p.Trp158=) c.327G= (p.Trp109=) c.273G= (p.Trp91=) | |
X | g.48511380G>T | CA412842018 | PORCN | c.222G>T (p.Trp74Cys) n.381G>T n.404G>T c.151G>T (p.Gly51Cys) c.87G>T (p.Trp29Cys) c.137-512G>T (n.137-512G>T) c.343G>T (p.Gly115Cys) n.261G>T c.9G>T (p.Trp3Cys) c.561G>T (p.Trp187Cys) c.474G>T (p.Trp158Cys) c.327G>T (p.Trp109Cys) c.273G>T (p.Trp91Cys) | |
X | g.48511381G>A | CA412842020 | PORCN | c.223G>A (p.Val75Ile) n.382G>A n.405G>A c.152G>A (p.Gly51Asp) c.88G>A (p.Val30Ile) c.137-511G>A (n.137-511G>A) c.344G>A (p.Gly115Asp) n.262G>A c.10G>A (p.Val4Ile) c.562G>A (p.Val188Ile) c.475G>A (p.Val159Ile) c.328G>A (p.Val110Ile) c.274G>A (p.Val92Ile) | gnomAD v4 |
X | g.48511381G>C | CA412842021 | PORCN | c.223G>C (p.Val75Leu) n.382G>C n.405G>C c.152G>C (p.Gly51Ala) c.88G>C (p.Val30Leu) c.137-511G>C (n.137-511G>C) c.344G>C (p.Gly115Ala) n.262G>C c.10G>C (p.Val4Leu) c.562G>C (p.Val188Leu) c.475G>C (p.Val159Leu) c.328G>C (p.Val110Leu) c.274G>C (p.Val92Leu) | |
X | g.48511381G>T | CA412842022 | PORCN | c.223G>T (p.Val75Phe) n.382G>T n.405G>T c.152G>T (p.Gly51Val) c.88G>T (p.Val30Phe) c.137-511G>T (n.137-511G>T) c.344G>T (p.Gly115Val) n.262G>T c.10G>T (p.Val4Phe) c.562G>T (p.Val188Phe) c.475G>T (p.Val159Phe) c.328G>T (p.Val110Phe) c.274G>T (p.Val92Phe) | |
X | g.48511382T>A | CA412842023 | PORCN | c.224T>A (p.Val75Asp) n.383T>A n.406T>A c.153T>A (p.Gly51=) c.89T>A (p.Val30Asp) c.137-510T>A (n.137-510T>A) c.345T>A (p.Gly115=) n.263T>A c.11T>A (p.Val4Asp) c.563T>A (p.Val188Asp) c.476T>A (p.Val159Asp) c.329T>A (p.Val110Asp) c.275T>A (p.Val92Asp) | |
X | g.48511382T>C | CA412842024 | PORCN | c.224T>C (p.Val75Ala) n.383T>C n.406T>C c.153T>C (p.Gly51=) c.89T>C (p.Val30Ala) c.137-510T>C (n.137-510T>C) c.345T>C (p.Gly115=) n.263T>C c.11T>C (p.Val4Ala) c.563T>C (p.Val188Ala) c.476T>C (p.Val159Ala) c.329T>C (p.Val110Ala) c.275T>C (p.Val92Ala) | |
X | g.48511382T>G | CA412842025 | PORCN | c.224T>G (p.Val75Gly) n.383T>G n.406T>G c.153T>G (p.Gly51=) c.89T>G (p.Val30Gly) c.137-510T>G (n.137-510T>G) c.345T>G (p.Gly115=) n.263T>G c.11T>G (p.Val4Gly) c.563T>G (p.Val188Gly) c.476T>G (p.Val159Gly) c.329T>G (p.Val110Gly) c.275T>G (p.Val92Gly) | |
X | g.48511383C>A | CA516010067 | PORCN | c.225C>A (p.Val75=) n.384C>A n.407C>A c.154C>A (p.Arg52Ser) c.90C>A (p.Val30=) c.137-509C>A (n.137-509C>A) c.346C>A (p.Arg116Ser) n.264C>A c.12C>A (p.Val4=) c.564C>A (p.Val188=) c.477C>A (p.Val159=) c.330C>A (p.Val110=) c.276C>A (p.Val92=) | dbSNP |
X | g.48511383C= | CA2428293303 | PORCN | c.225C= (p.Val75=) n.384C= n.407C= c.154C= (p.Arg52=) c.90C= (p.Val30=) c.137-509C= (n.137-509C=) c.346C= (p.Arg116=) n.264C= c.12C= (p.Val4=) c.564C= (p.Val188=) c.477C= (p.Val159=) c.330C= (p.Val110=) c.276C= (p.Val92=) | |
X | g.48511383C>G | CA516010068 | PORCN | c.225C>G (p.Val75=) n.384C>G n.407C>G c.154C>G (p.Arg52Gly) c.90C>G (p.Val30=) c.137-509C>G (n.137-509C>G) c.346C>G (p.Arg116Gly) n.264C>G c.12C>G (p.Val4=) c.564C>G (p.Val188=) c.477C>G (p.Val159=) c.330C>G (p.Val110=) c.276C>G (p.Val92=) | |
X | g.48511383C>T | CA10402711 | PORCN | c.225C>T (p.Val75=) n.384C>T n.407C>T c.154C>T (p.Arg52Cys) c.90C>T (p.Val30=) c.137-509C>T (n.137-509C>T) c.346C>T (p.Arg116Cys) n.264C>T c.12C>T (p.Val4=) c.564C>T (p.Val188=) c.477C>T (p.Val159=) c.330C>T (p.Val110=) c.276C>T (p.Val92=) | dbSNP ExAC gnomAD v4 COSMIC |
X | g.48511384G>A | CA412842026 | PORCN | c.226G>A (p.Val76Met) n.385G>A n.408G>A c.155G>A (p.Arg52His) c.91G>A (p.Val31Met) c.137-508G>A (n.137-508G>A) c.347G>A (p.Arg116His) n.265G>A c.13G>A (p.Val5Met) c.565G>A (p.Val189Met) c.478G>A (p.Val160Met) c.331G>A (p.Val111Met) c.277G>A (p.Val93Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.48511384G>C | CA412842027 | PORCN | c.226G>C (p.Val76Leu) n.385G>C n.408G>C c.155G>C (p.Arg52Pro) c.91G>C (p.Val31Leu) c.137-508G>C (n.137-508G>C) c.347G>C (p.Arg116Pro) n.265G>C c.13G>C (p.Val5Leu) c.565G>C (p.Val189Leu) c.478G>C (p.Val160Leu) c.331G>C (p.Val111Leu) c.277G>C (p.Val93Leu) | |
X | g.48511384G= | CA2428293304 | PORCN | c.226G= (p.Val76=) n.385G= n.408G= c.155G= (p.Arg52=) c.91G= (p.Val31=) c.137-508G= (n.137-508G=) c.347G= (p.Arg116=) n.265G= c.13G= (p.Val5=) c.565G= (p.Val189=) c.478G= (p.Val160=) c.331G= (p.Val111=) c.277G= (p.Val93=) | |
X | g.48511384G>T | CA412842028 | PORCN | c.226G>T (p.Val76Leu) n.385G>T n.408G>T c.155G>T (p.Arg52Leu) c.91G>T (p.Val31Leu) c.137-508G>T (n.137-508G>T) c.347G>T (p.Arg116Leu) n.265G>T c.13G>T (p.Val5Leu) c.565G>T (p.Val189Leu) c.478G>T (p.Val160Leu) c.331G>T (p.Val111Leu) c.277G>T (p.Val93Leu) | |
X | g.48511385T>A | CA412842030 | PORCN | c.227T>A (p.Val76Glu) n.386T>A n.409T>A c.156T>A (p.Arg52=) c.92T>A (p.Val31Glu) c.137-507T>A (n.137-507T>A) c.348T>A (p.Arg116=) n.266T>A c.14T>A (p.Val5Glu) c.566T>A (p.Val189Glu) c.479T>A (p.Val160Glu) c.332T>A (p.Val111Glu) c.278T>A (p.Val93Glu) | |
X | g.48511385T>C | CA412842032 | PORCN | c.227T>C (p.Val76Ala) n.386T>C n.409T>C c.156T>C (p.Arg52=) c.92T>C (p.Val31Ala) c.137-507T>C (n.137-507T>C) c.348T>C (p.Arg116=) n.266T>C c.14T>C (p.Val5Ala) c.566T>C (p.Val189Ala) c.479T>C (p.Val160Ala) c.332T>C (p.Val111Ala) c.278T>C (p.Val93Ala) | |
X | g.48511385T>G | CA412842033 | PORCN | c.227T>G (p.Val76Gly) n.386T>G n.409T>G c.156T>G (p.Arg52=) c.92T>G (p.Val31Gly) c.137-507T>G (n.137-507T>G) c.348T>G (p.Arg116=) n.266T>G c.14T>G (p.Val5Gly) c.566T>G (p.Val189Gly) c.479T>G (p.Val160Gly) c.332T>G (p.Val111Gly) c.278T>G (p.Val93Gly) | |
X | g.48511386G>A | CA516010087 | PORCN | c.228G>A (p.Val76=) n.387G>A n.410G>A c.157G>A (p.Ala53Thr) c.93G>A (p.Val31=) c.137-506G>A (n.137-506G>A) c.349G>A (p.Ala117Thr) n.267G>A c.15G>A (p.Val5=) c.567G>A (p.Val189=) c.480G>A (p.Val160=) c.333G>A (p.Val111=) c.279G>A (p.Val93=) | |
X | g.48511386G>C | CA516010085 | PORCN | c.228G>C (p.Val76=) n.387G>C n.410G>C c.157G>C (p.Ala53Pro) c.93G>C (p.Val31=) c.137-506G>C (n.137-506G>C) c.349G>C (p.Ala117Pro) n.267G>C c.15G>C (p.Val5=) c.567G>C (p.Val189=) c.480G>C (p.Val160=) c.333G>C (p.Val111=) c.279G>C (p.Val93=) | |
X | g.48511386G>T | CA516010083 | PORCN | c.228G>T (p.Val76=) n.387G>T n.410G>T c.157G>T (p.Ala53Ser) c.93G>T (p.Val31=) c.137-506G>T (n.137-506G>T) c.349G>T (p.Ala117Ser) n.267G>T c.15G>T (p.Val5=) c.567G>T (p.Val189=) c.480G>T (p.Val160=) c.333G>T (p.Val111=) c.279G>T (p.Val93=) | |
X | g.48511387C>A | CA412842035 | PORCN | c.229C>A (p.Leu77Met) n.388C>A n.411C>A c.158C>A (p.Ala53Asp) c.94C>A (p.Leu32Met) c.137-505C>A (n.137-505C>A) c.350C>A (p.Ala117Asp) n.268C>A c.16C>A (p.Leu6Met) c.568C>A (p.Leu190Met) c.481C>A (p.Leu161Met) c.334C>A (p.Leu112Met) c.280C>A (p.Leu94Met) | |
X | g.48511387C>G | CA412842037 | PORCN | c.229C>G (p.Leu77Val) n.388C>G n.411C>G c.158C>G (p.Ala53Gly) c.94C>G (p.Leu32Val) c.137-505C>G (n.137-505C>G) c.350C>G (p.Ala117Gly) n.268C>G c.16C>G (p.Leu6Val) c.568C>G (p.Leu190Val) c.481C>G (p.Leu161Val) c.334C>G (p.Leu112Val) c.280C>G (p.Leu94Val) | |
X | g.48511387C>T | CA516010090 | PORCN | c.229C>T (p.Leu77=) n.388C>T n.411C>T c.158C>T (p.Ala53Val) c.94C>T (p.Leu32=) c.137-505C>T (n.137-505C>T) c.350C>T (p.Ala117Val) n.268C>T c.16C>T (p.Leu6=) c.568C>T (p.Leu190=) c.481C>T (p.Leu161=) c.334C>T (p.Leu112=) c.280C>T (p.Leu94=) | |
X | g.48511388T>A | CA412842039 | PORCN | c.230T>A (p.Leu77Gln) n.389T>A n.412T>A c.159T>A (p.Ala53=) c.95T>A (p.Leu32Gln) c.137-504T>A (n.137-504T>A) c.351T>A (p.Ala117=) n.269T>A c.17T>A (p.Leu6Gln) c.569T>A (p.Leu190Gln) c.482T>A (p.Leu161Gln) c.335T>A (p.Leu112Gln) c.281T>A (p.Leu94Gln) | |
X | g.48511388T>C | CA412842041 | PORCN | c.230T>C (p.Leu77Pro) n.389T>C n.412T>C c.159T>C (p.Ala53=) c.95T>C (p.Leu32Pro) c.137-504T>C (n.137-504T>C) c.351T>C (p.Ala117=) n.269T>C c.17T>C (p.Leu6Pro) c.569T>C (p.Leu190Pro) c.482T>C (p.Leu161Pro) c.335T>C (p.Leu112Pro) c.281T>C (p.Leu94Pro) | |
X | g.48511388T>G | CA412842042 | PORCN | c.230T>G (p.Leu77Arg) n.389T>G n.412T>G c.159T>G (p.Ala53=) c.95T>G (p.Leu32Arg) c.137-504T>G (n.137-504T>G) c.351T>G (p.Ala117=) n.269T>G c.17T>G (p.Leu6Arg) c.569T>G (p.Leu190Arg) c.482T>G (p.Leu161Arg) c.335T>G (p.Leu112Arg) c.281T>G (p.Leu94Arg) | |
X | g.48511389G>A | CA10402712 | PORCN | c.231G>A (p.Leu77=) n.390G>A n.413G>A c.160G>A (p.Ala54Thr) c.96G>A (p.Leu32=) c.137-503G>A (n.137-503G>A) c.352G>A (p.Ala118Thr) n.270G>A c.18G>A (p.Leu6=) c.570G>A (p.Leu190=) c.483G>A (p.Leu161=) c.336G>A (p.Leu112=) c.282G>A (p.Leu94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48511389G>C | CA516010099 | PORCN | c.231G>C (p.Leu77=) n.390G>C n.413G>C c.160G>C (p.Ala54Pro) c.96G>C (p.Leu32=) c.137-503G>C (n.137-503G>C) c.352G>C (p.Ala118Pro) n.270G>C c.18G>C (p.Leu6=) c.570G>C (p.Leu190=) c.483G>C (p.Leu161=) c.336G>C (p.Leu112=) c.282G>C (p.Leu94=) | |
X | g.48511389G= | CA2428293305 | PORCN | c.231G= (p.Leu77=) n.390G= n.413G= c.160G= (p.Ala54=) c.96G= (p.Leu32=) c.137-503G= (n.137-503G=) c.352G= (p.Ala118=) n.270G= c.18G= (p.Leu6=) c.570G= (p.Leu190=) c.483G= (p.Leu161=) c.336G= (p.Leu112=) c.282G= (p.Leu94=) | |
X | g.48511389G>T | CA516010103 | PORCN | c.231G>T (p.Leu77=) n.390G>T n.413G>T c.160G>T (p.Ala54Ser) c.96G>T (p.Leu32=) c.137-503G>T (n.137-503G>T) c.352G>T (p.Ala118Ser) n.270G>T c.18G>T (p.Leu6=) c.570G>T (p.Leu190=) c.483G>T (p.Leu161=) c.336G>T (p.Leu112=) c.282G>T (p.Leu94=) | |
X | g.48511390C>A | CA412842046 | PORCN | c.232C>A (p.Leu78Ile) n.391C>A n.414C>A c.161C>A (p.Ala54Asp) c.97C>A (p.Leu33Ile) c.137-502C>A (n.137-502C>A) c.353C>A (p.Ala118Asp) n.271C>A c.19C>A (p.Leu7Ile) c.571C>A (p.Leu191Ile) c.484C>A (p.Leu162Ile) c.337C>A (p.Leu113Ile) c.283C>A (p.Leu95Ile) | |
X | g.48511390C>G | CA412842048 | PORCN | c.232C>G (p.Leu78Val) n.391C>G n.414C>G c.161C>G (p.Ala54Gly) c.97C>G (p.Leu33Val) c.137-502C>G (n.137-502C>G) c.353C>G (p.Ala118Gly) n.271C>G c.19C>G (p.Leu7Val) c.571C>G (p.Leu191Val) c.484C>G (p.Leu162Val) c.337C>G (p.Leu113Val) c.283C>G (p.Leu95Val) | |
X | g.48511390C>T | CA412842049 | PORCN | c.232C>T (p.Leu78Phe) n.391C>T n.414C>T c.161C>T (p.Ala54Val) c.97C>T (p.Leu33Phe) c.137-502C>T (n.137-502C>T) c.353C>T (p.Ala118Val) n.271C>T c.19C>T (p.Leu7Phe) c.571C>T (p.Leu191Phe) c.484C>T (p.Leu162Phe) c.337C>T (p.Leu113Phe) c.283C>T (p.Leu95Phe) | |
X | g.48511391T>A | CA412842052 | PORCN | c.233T>A (p.Leu78His) n.392T>A n.415T>A c.162T>A (p.Ala54=) c.98T>A (p.Leu33His) c.137-501T>A (n.137-501T>A) c.354T>A (p.Ala118=) n.272T>A c.20T>A (p.Leu7His) c.572T>A (p.Leu191His) c.485T>A (p.Leu162His) c.338T>A (p.Leu113His) c.284T>A (p.Leu95His) | |
X | g.48511391T>C | CA412842054 | PORCN | c.233T>C (p.Leu78Pro) n.392T>C n.415T>C c.162T>C (p.Ala54=) c.98T>C (p.Leu33Pro) c.137-501T>C (n.137-501T>C) c.354T>C (p.Ala118=) n.272T>C c.20T>C (p.Leu7Pro) c.572T>C (p.Leu191Pro) c.485T>C (p.Leu162Pro) c.338T>C (p.Leu113Pro) c.284T>C (p.Leu95Pro) | gnomAD v4 |
X | g.48511391T>G | CA412842055 | PORCN | c.233T>G (p.Leu78Arg) n.392T>G n.415T>G c.162T>G (p.Ala54=) c.98T>G (p.Leu33Arg) c.137-501T>G (n.137-501T>G) c.354T>G (p.Ala118=) n.272T>G c.20T>G (p.Leu7Arg) c.572T>G (p.Leu191Arg) c.485T>G (p.Leu162Arg) c.338T>G (p.Leu113Arg) c.284T>G (p.Leu95Arg) | |
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.48511438dup | CA2842180053 | PORCN | c.280dup (p.His94ProfsTer18) n.439dup n.462dup c.209dup (p.Ser71IlefsTer22) c.145dup (p.His49ProfsTer18) c.137-454dup (n.137-454dup) c.401dup (p.Ser135IlefsTer22) c.280dup (p.His94ProfsTer?) n.319dup c.67dup (p.His23ProfsTer18) c.619dup (p.His207ProfsTer18) c.532dup (p.His178ProfsTer18) c.385dup (p.His129ProfsTer18) c.331dup (p.His111ProfsTer18) | |
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) |