| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131851227_131851228delinsGC | CA2739266144 | ENPP1 | c.516_517delinsGC (p.Asp172_Lys173delinsGluGln) c.194_195delinsGC c.108+1121_108+1122delinsGC n.536_537delinsGC | |
| 6 | g.131851228A= | CA1630834537 | ENPP1 | c.517A= (p.Lys173=) c.195A= c.108+1122A= n.537A= | |
| 6 | g.131851228A>C | CA123287 | ENPP1 | c.517A>C (p.Lys173Gln) c.195A>C c.108+1122A>C n.537A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851228A>G | CA365661974 | ENPP1 | c.517A>G (p.Lys173Glu) c.195A>G c.108+1122A>G n.537A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131851228A>T | CA365661985 | ENPP1 | c.517A>T (p.Lys173Ter) c.195A>T c.108+1122A>T n.537A>T | |
| 6 | g.131851229A= | CA1664253753 | ENPP1 | c.518A= (p.Lys173=) c.196A= c.108+1123A= n.538A= | |
| 6 | g.131851229A>C | CA365662018 | ENPP1 | c.518A>C (p.Lys173Thr) c.196A>C c.108+1123A>C n.538A>C | |
| 6 | g.131851229A>G | CA365662013 | ENPP1 | c.518A>G (p.Lys173Arg) c.196A>G c.108+1123A>G n.538A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131851229A>T | CA365662000 | ENPP1 | c.518A>T (p.Lys173Met) c.196A>T c.108+1123A>T n.538A>T | |
| 6 | g.131851230G>A | CA452154635 | ENPP1 | c.519G>A (p.Lys173=) c.197G>A c.108+1124G>A n.539G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851230G>C | CA365662023 | ENPP1 | c.519G>C (p.Lys173Asn) c.197G>C c.108+1124G>C n.539G>C | |
| 6 | g.131851230G= | CA1664253754 | ENPP1 | c.519G= (p.Lys173=) c.197G= c.108+1124G= n.539G= | |
| 6 | g.131851230G>T | CA365662025 | ENPP1 | c.519G>T (p.Lys173Asn) c.197G>T c.108+1124G>T n.539G>T | |
| 6 | g.131851231G>A | CA365662028 | ENPP1 | c.520G>A (p.Gly174Ser) c.198G>A c.108+1125G>A n.540G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131851231G>C | CA365662031 | ENPP1 | c.520G>C (p.Gly174Arg) c.198G>C c.108+1125G>C n.540G>C | |
| 6 | g.131851231G= | CA1664253755 | ENPP1 | c.520G= (p.Gly174=) c.198G= c.108+1125G= n.540G= | |
| 6 | g.131851231G>T | CA365662037 | ENPP1 | c.520G>T (p.Gly174Cys) c.198G>T c.108+1125G>T n.540G>T | |
| 6 | g.131851232G>A | CA365662043 | ENPP1 | c.521G>A (p.Gly174Asp) c.199G>A c.108+1126G>A n.541G>A | |
| 6 | g.131851232G>C | CA365662048 | ENPP1 | c.521G>C (p.Gly174Ala) c.199G>C c.108+1126G>C n.541G>C | |
| 6 | g.131851232G>T | CA365662051 | ENPP1 | c.521G>T (p.Gly174Val) c.199G>T c.108+1126G>T n.541G>T | |
| 6 | g.131851233C>A | CA452154637 | ENPP1 | c.522C>A (p.Gly174=) c.200C>A c.108+1127C>A n.542C>A | |
| 6 | g.131851233C= | CA1664253756 | ENPP1 | c.522C= (p.Gly174=) c.200C= c.108+1127C= n.542C= | |
| 6 | g.131851233C>G | CA4001919 | ENPP1 | c.522C>G (p.Gly174=) c.200C>G c.108+1127C>G n.542C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851233C>T | CA4001918 | ENPP1 | c.522C>T (p.Gly174=) c.200C>T c.108+1127C>T n.542C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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= |