Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.131851234del | CA2773093457 | ENPP1 | c.523del (p.Asp175ThrfsTer17) c.201del c.108+1128del n.543del | |
6 | g.131851234G>A | CA4001920 | ENPP1 | c.523G>A (p.Asp175Asn) c.201G>A c.108+1128G>A n.543G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851234G>C | CA365662069 | ENPP1 | c.523G>C (p.Asp175His) c.201G>C c.108+1128G>C n.543G>C | |
6 | g.131851234G= | CA1664253757 | ENPP1 | c.523G= (p.Asp175=) c.201G= c.108+1128G= n.543G= | |
6 | g.131851234G>T | CA365662073 | ENPP1 | c.523G>T (p.Asp175Tyr) c.201G>T c.108+1128G>T n.543G>T | gnomAD v4 |
6 | g.131851235A>C | CA365662102 | ENPP1 | c.524A>C (p.Asp175Ala) c.202A>C c.108+1129A>C n.544A>C | |
6 | g.131851235A>G | CA365662106 | ENPP1 | c.524A>G (p.Asp175Gly) c.202A>G c.108+1129A>G n.544A>G | |
6 | g.131851235A>T | CA365662098 | ENPP1 | c.524A>T (p.Asp175Val) c.202A>T c.108+1129A>T n.544A>T | |
6 | g.131851236C>A | CA365662109 | ENPP1 | c.525C>A (p.Asp175Glu) c.203C>A c.108+1130C>A n.545C>A | |
6 | g.131851236C= | CA1664253758 | ENPP1 | c.525C= (p.Asp175=) c.203C= c.108+1130C= n.545C= | |
6 | g.131851236C>G | CA365662110 | ENPP1 | c.525C>G (p.Asp175Glu) c.203C>G c.108+1130C>G n.545C>G | |
6 | g.131851236C>T | CA4001921 | ENPP1 | c.525C>T (p.Asp175=) c.203C>T c.108+1130C>T n.545C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851237T>A | CA365662112 | ENPP1 | c.526T>A (p.Cys176Ser) c.204T>A c.108+1131T>A n.546T>A | |
6 | g.131851237T>C | CA365662115 | ENPP1 | c.526T>C (p.Cys176Arg) c.204T>C c.108+1131T>C n.546T>C | |
6 | g.131851237T>G | CA365662118 | ENPP1 | c.526T>G (p.Cys176Gly) c.204T>G c.108+1131T>G n.546T>G | |
6 | g.131851238G>A | CA365662123 | ENPP1 | c.527G>A (p.Cys176Tyr) c.205G>A c.108+1132G>A n.547G>A | gnomAD v4 |
6 | g.131851238G>C | CA365662129 | ENPP1 | c.527G>C (p.Cys176Ser) c.205G>C c.108+1132G>C n.547G>C | |
6 | g.131851238G>T | CA365662131 | ENPP1 | c.527G>T (p.Cys176Phe) c.205G>T c.108+1132G>T n.547G>T | |
6 | g.131851239C>A | CA365662136 | ENPP1 | c.528C>A (p.Cys176Ter) c.206C>A c.108+1133C>A n.548C>A | |
6 | g.131851239C>G | CA365662141 | ENPP1 | c.528C>G (p.Cys176Trp) c.206C>G c.108+1133C>G n.548C>G | |
6 | g.131851239C>T | CA452154646 | ENPP1 | c.528C>T (p.Cys176=) c.206C>T c.108+1133C>T n.548C>T | COSMIC COSMIC |
6 | g.131851240T>A | CA365662154 | ENPP1 | c.529T>A (p.Cys177Ser) c.207T>A c.108+1134T>A n.549T>A | |
6 | g.131851240T>C | CA365662149 | ENPP1 | c.529T>C (p.Cys177Arg) c.207T>C c.108+1134T>C n.549T>C | |
6 | g.131851240T>G | CA365662146 | ENPP1 | c.529T>G (p.Cys177Gly) c.207T>G c.108+1134T>G n.549T>G | |
6 | g.131851241G>A | CA145330 | ENPP1 | c.530G>A (p.Cys177Tyr) c.208G>A c.108+1135G>A n.550G>A | ClinVar dbSNP |
6 | g.131851241G>C | CA365662183 | ENPP1 | c.530G>C (p.Cys177Ser) c.208G>C c.108+1135G>C n.550G>C | |
6 | g.131851241G= | CA1664253759 | ENPP1 | c.530G= (p.Cys177=) c.208G= c.108+1135G= n.550G= | |
6 | g.131851241G>T | CA365662186 | ENPP1 | c.530G>T (p.Cys177Phe) c.208G>T c.108+1135G>T n.550G>T | |
6 | g.131851242C>A | CA365662194 | ENPP1 | c.531C>A (p.Cys177Ter) c.209C>A c.108+1136C>A n.551C>A | |
6 | g.131851242C= | CA1664253760 | ENPP1 | c.531C= (p.Cys177=) c.209C= c.108+1136C= n.551C= | |
6 | g.131851242C>G | CA365662201 | ENPP1 | c.531C>G (p.Cys177Trp) c.209C>G c.108+1136C>G n.551C>G | gnomAD v4 |
6 | g.131851242C>T | CA4001922 | ENPP1 | c.531C>T (p.Cys177=) c.209C>T c.108+1136C>T n.551C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851243A= | CA1664253761 | ENPP1 | c.532A= (p.Ile178=) c.210A= c.108+1137A= n.552A= | |
6 | g.131851243A>C | CA365662210 | ENPP1 | c.532A>C (p.Ile178Leu) c.210A>C c.108+1137A>C n.552A>C | |
6 | g.131851243A>G | CA147926407 | ENPP1 | c.532A>G (p.Ile178Val) c.210A>G c.108+1137A>G n.552A>G | dbSNP gnomAD v4 |
6 | g.131851243A>T | CA365662224 | ENPP1 | c.532A>T (p.Ile178Phe) c.210A>T c.108+1137A>T n.552A>T | |
6 | g.131851244T>A | CA365662231 | ENPP1 | c.533T>A (p.Ile178Asn) c.211T>A c.108+1138T>A n.553T>A | |
6 | g.131851244T>C | CA365662232 | ENPP1 | c.533T>C (p.Ile178Thr) c.211T>C c.108+1138T>C n.553T>C | |
6 | g.131851244T>G | CA365662236 | ENPP1 | c.533T>G (p.Ile178Ser) c.211T>G c.108+1138T>G n.553T>G | |
6 | g.131851245C>A | CA452154654 | ENPP1 | c.534C>A (p.Ile178=) c.212C>A c.108+1139C>A n.554C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851245C>G | CA365662241 | ENPP1 | c.534C>G (p.Ile178Met) c.212C>G c.108+1139C>G n.554C>G | |
6 | g.131851245C>T | CA452154655 | ENPP1 | c.534C>T (p.Ile178=) c.212C>T c.108+1139C>T n.554C>T | gnomAD v4 |
6 | g.131851246A>C | CA365662260 | ENPP1 | c.535A>C (p.Asn179His) c.213A>C c.108+1140A>C n.555A>C | |
6 | g.131851246A>G | CA365662253 | ENPP1 | c.535A>G (p.Asn179Asp) c.213A>G c.108+1140A>G n.555A>G | gnomAD v4 |
6 | g.131851246A>T | CA365662256 | ENPP1 | c.535A>T (p.Asn179Tyr) c.213A>T c.108+1140A>T n.555A>T | |
6 | g.131851247A= | CA1664253762 | ENPP1 | c.536A= (p.Asn179=) c.214A= c.108+1141A= n.556A= | |
6 | g.131851247A>C | CA365662261 | ENPP1 | c.536A>C (p.Asn179Thr) c.214A>C c.108+1141A>C n.556A>C | gnomAD v4 |
6 | g.131851247A>G | CA4001923 | ENPP1 | c.536A>G (p.Asn179Ser) c.214A>G c.108+1141A>G n.556A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851247A>T | CA365662262 | ENPP1 | c.536A>T (p.Asn179Ile) c.214A>T c.108+1141A>T n.556A>T | |
6 | g.131851248C>A | CA365662263 | ENPP1 | c.537C>A (p.Asn179Lys) c.215C>A c.108+1142C>A n.557C>A |