Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.131851226A>C | CA365661917 | ENPP1 | c.515A>C (p.Asp172Ala) c.193A>C c.108+1120A>C n.535A>C | |
6 | g.131851226A>G | CA365661919 | ENPP1 | c.515A>G (p.Asp172Gly) c.193A>G c.108+1120A>G n.535A>G | gnomAD v4 |
6 | g.131851226A>T | CA365661925 | ENPP1 | c.515A>T (p.Asp172Val) c.193A>T c.108+1120A>T n.535A>T | |
6 | g.131851227C>A | CA365661937 | ENPP1 | c.516C>A (p.Asp172Glu) c.194C>A c.108+1121C>A n.536C>A | |
6 | g.131851227C>G | CA365661939 | ENPP1 | c.516C>G (p.Asp172Glu) c.194C>G c.108+1121C>G n.536C>G | |
6 | g.131851227C>T | CA452154630 | ENPP1 | c.516C>T (p.Asp172=) c.194C>T c.108+1121C>T n.536C>T | |
6 | g.131851227_131851228delinsGC | CA2739266144 | ENPP1 | c.516_517delinsGC (p.Asp172_Lys173delinsGluGln) c.194_195delinsGC c.108+1121_108+1122delinsGC n.536_537delinsGC | ClinVar |
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.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 | |
6 | g.131851248C>G | CA365662264 | ENPP1 | c.537C>G (p.Asn179Lys) c.215C>G c.108+1142C>G n.557C>G | |
6 | g.131851248C>T | CA452154660 | ENPP1 | c.537C>T (p.Asn179=) c.215C>T c.108+1142C>T n.557C>T | |
6 | g.131851249T>A | CA365662275 | ENPP1 | c.538T>A (p.Tyr180Asn) c.216T>A c.108+1143T>A n.558T>A | |
6 | g.131851249T>C | CA365662270 | ENPP1 | c.538T>C (p.Tyr180His) c.216T>C c.108+1143T>C n.558T>C | |
6 | g.131851249T>G | CA365662273 | ENPP1 | c.538T>G (p.Tyr180Asp) c.216T>G c.108+1143T>G n.558T>G | |
6 | g.131851250A>C | CA365662277 | ENPP1 | c.539A>C (p.Tyr180Ser) c.217A>C c.108+1144A>C n.559A>C | |
6 | g.131851250A>G | CA365662278 | ENPP1 | c.539A>G (p.Tyr180Cys) c.217A>G c.108+1144A>G n.559A>G | |
6 | g.131851250A>T | CA365662279 | ENPP1 | c.539A>T (p.Tyr180Phe) c.217A>T c.108+1144A>T n.559A>T | |
6 | g.131851251C>A | CA365662281 | ENPP1 | c.540C>A (p.Tyr180Ter) c.218C>A c.108+1145C>A n.560C>A | |
6 | g.131851251C= | CA1664253763 | ENPP1 | c.540C= (p.Tyr180=) c.218C= c.108+1145C= n.560C= | |
6 | g.131851251C>G | CA365662284 | ENPP1 | c.540C>G (p.Tyr180Ter) c.218C>G c.108+1145C>G n.560C>G | |
6 | g.131851251C>T | CA452154664 | ENPP1 | c.540C>T (p.Tyr180=) c.218C>T c.108+1145C>T n.560C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851252A>C | CA365662291 | ENPP1 | c.541A>C (p.Ser181Arg) c.219A>C c.108+1146A>C n.561A>C | |
6 | g.131851252A>G | CA365662308 | ENPP1 | c.541A>G (p.Ser181Gly) c.219A>G c.108+1146A>G n.561A>G | |
6 | g.131851252A>T | CA365662297 | ENPP1 | c.541A>T (p.Ser181Cys) c.219A>T c.108+1146A>T n.561A>T | |
6 | g.131851253G>A | CA365662312 | ENPP1 | c.542G>A (p.Ser181Asn) c.220G>A c.108+1147G>A n.562G>A | |
6 | g.131851253G>C | CA365662314 | ENPP1 | c.542G>C (p.Ser181Thr) c.220G>C c.108+1147G>C n.562G>C | |
6 | g.131851253G>T | CA365662317 | ENPP1 | c.542G>T (p.Ser181Ile) c.220G>T c.108+1147G>T n.562G>T | |
6 | g.131851254T>A | CA365662326 | ENPP1 | c.543T>A (p.Ser181Arg) c.221T>A c.108+1148T>A n.563T>A | |
6 | g.131851254T>C | CA452154668 | ENPP1 | c.543T>C (p.Ser181=) c.221T>C c.108+1148T>C n.563T>C | gnomAD v4 COSMIC |
6 | g.131851254T>G | CA365662328 | ENPP1 | c.543T>G (p.Ser181Arg) c.221T>G c.108+1148T>G n.563T>G | |
6 | g.131851255T>A | CA365662329 | ENPP1 | c.544T>A (p.Ser182Thr) c.222T>A c.108+1149T>A n.564T>A | |
6 | g.131851255T>C | CA365662330 | ENPP1 | c.544T>C (p.Ser182Pro) c.222T>C c.108+1149T>C n.564T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851255T>G | CA365662332 | ENPP1 | c.544T>G (p.Ser182Ala) c.222T>G c.108+1149T>G n.564T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.131851255T= | CA1664253764 | ENPP1 | c.544T= (p.Ser182=) c.222T= c.108+1149T= n.564T= | |
6 | g.131851256C>A | CA365662340 | ENPP1 | c.545C>A (p.Ser182Tyr) c.223C>A c.108+1150C>A n.565C>A | |
6 | g.131851256C= | CA1664253765 | ENPP1 | c.545C= (p.Ser182=) c.223C= c.108+1150C= n.565C= | |
6 | g.131851256C>G | CA365662341 | ENPP1 | c.545C>G (p.Ser182Cys) c.223C>G c.108+1150C>G n.565C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851256C>T | CA365662344 | ENPP1 | c.545C>T (p.Ser182Phe) c.223C>T c.108+1150C>T n.565C>T | gnomAD v4 |
6 | g.131851257T>A | CA452154670 | ENPP1 | c.546T>A (p.Ser182=) c.224T>A c.108+1151T>A n.566T>A | |
6 | g.131851257T>C | CA4001924 | ENPP1 | c.546T>C (p.Ser182=) c.224T>C c.108+1151T>C n.566T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851257T>G | CA452154673 | ENPP1 | c.546T>G (p.Ser182=) c.224T>G c.108+1151T>G n.566T>G | |
6 | g.131851257T= | CA1664253766 | ENPP1 | c.546T= (p.Ser182=) c.224T= c.108+1151T= n.566T= | |
6 | g.131851258G>A | CA365662350 | ENPP1 | c.547G>A (p.Val183Met) c.225G>A c.108+1152G>A n.567G>A | gnomAD v4 |
6 | g.131851258G>C | CA365662355 | ENPP1 | c.547G>C (p.Val183Leu) c.225G>C c.108+1152G>C n.567G>C | |
6 | g.131851258G>T | CA365662353 | ENPP1 | c.547G>T (p.Val183Leu) c.225G>T c.108+1152G>T n.567G>T | |
6 | g.131851259T>A | CA365662359 | ENPP1 | c.548T>A (p.Val183Glu) c.226T>A c.108+1153T>A n.568T>A | |
6 | g.131851259T>C | CA365662363 | ENPP1 | c.548T>C (p.Val183Ala) c.226T>C c.108+1153T>C n.568T>C | |
6 | g.131851259T>G | CA365662366 | ENPP1 | c.548T>G (p.Val183Gly) c.226T>G c.108+1153T>G n.568T>G | |
6 | g.131851260G>A | CA452154678 | ENPP1 | c.549G>A (p.Val183=) c.227G>A c.108+1154G>A n.569G>A | |
6 | g.131851260G>C | CA452154679 | ENPP1 | c.549G>C (p.Val183=) c.227G>C c.108+1154G>C n.569G>C | |
6 | g.131851260G>T | CA452154680 | ENPP1 | c.549G>T (p.Val183=) c.227G>T c.108+1154G>T n.569G>T | |
6 | g.131851261T>A | CA365662371 | ENPP1 | c.550T>A (p.Cys184Ser) c.228T>A c.108+1155T>A n.570T>A | |
6 | g.131851261T>C | CA365662373 | ENPP1 | c.550T>C (p.Cys184Arg) c.228T>C c.108+1155T>C n.570T>C | |
6 | g.131851261T>G | CA365662375 | ENPP1 | c.550T>G (p.Cys184Gly) c.228T>G c.108+1155T>G n.570T>G | |
6 | g.131851261T= | CA1664253767 | ENPP1 | c.550T= (p.Cys184=) c.228T= c.108+1155T= n.570T= | |
6 | g.131851262G>A | CA365662379 | ENPP1 | c.551G>A (p.Cys184Tyr) c.229G>A c.108+1156G>A n.571G>A | dbSNP gnomAD v2 |
6 | g.131851262G>C | CA365662382 | ENPP1 | c.551G>C (p.Cys184Ser) c.229G>C c.108+1156G>C n.571G>C | |
6 | g.131851262G= | CA1664253768 | ENPP1 | c.551G= (p.Cys184=) c.229G= c.108+1156G= n.571G= | |
6 | g.131851262G>T | CA365662385 | ENPP1 | c.551G>T (p.Cys184Phe) c.229G>T c.108+1156G>T n.571G>T | COSMIC |
6 | g.131851262dup | CA4001925 | ENPP1 | c.551dup (p.Cys184TrpfsTer4) c.229dup c.108+1156dup n.571dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851263T>A | CA365662386 | ENPP1 | c.552T>A (p.Cys184Ter) c.230T>A c.108+1157T>A n.572T>A | |
6 | g.131851263T>C | CA452154685 | ENPP1 | c.552T>C (p.Cys184=) c.230T>C c.108+1157T>C n.572T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851263T>G | CA365662387 | ENPP1 | c.552T>G (p.Cys184Trp) c.230T>G c.108+1157T>G n.572T>G | |
6 | g.131851263T= | CA1664253769 | ENPP1 | c.552T= (p.Cys184=) c.230T= c.108+1157T= n.572T= | |
6 | g.131851264C>A | CA365662396 | ENPP1 | c.553C>A (p.Gln185Lys) c.231C>A c.108+1158C>A n.573C>A | |
6 | g.131851264C= | CA1664253770 | ENPP1 | c.553C= (p.Gln185=) c.231C= c.108+1158C= n.573C= | |
6 | g.131851264C>G | CA365662388 | ENPP1 | c.553C>G (p.Gln185Glu) c.231C>G c.108+1158C>G n.573C>G | dbSNP |
6 | g.131851264C>T | CA365662392 | ENPP1 | c.553C>T (p.Gln185Ter) c.231C>T c.108+1158C>T n.573C>T | dbSNP |
6 | g.131851265A>C | CA365662397 | ENPP1 | c.554A>C (p.Gln185Pro) c.232A>C c.108+1159A>C n.574A>C | gnomAD v4 |
6 | g.131851265A>G | CA365662398 | ENPP1 | c.554A>G (p.Gln185Arg) c.232A>G c.108+1159A>G n.574A>G | |
6 | g.131851265A>T | CA365662399 | ENPP1 | c.554A>T (p.Gln185Leu) c.232A>T c.108+1159A>T n.574A>T | |
6 | g.131851266A= | CA1664253771 | ENPP1 | c.555A= (p.Gln185=) c.233A= c.108+1160A= n.575A= | |
6 | g.131851266A>C | CA365662401 | ENPP1 | c.555A>C (p.Gln185His) c.233A>C c.108+1160A>C n.575A>C | |
6 | g.131851266A>G | CA4001926 | ENPP1 | c.555A>G (p.Gln185=) c.233A>G c.108+1160A>G n.575A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851266A>T | CA365662408 | ENPP1 | c.555A>T (p.Gln185His) c.233A>T c.108+1160A>T n.575A>T | |
6 | g.131851266_131851267insATTCAACA | CA2531279804 | ENPP1 | c.555_556insATTCAACA (p.Gly186IlefsTer9) c.233_234insATTCAACA c.108+1160_108+1161insATTCAACA n.575_576insATTCAACA | |
6 | g.131851267G>A | CA365662411 | ENPP1 | c.556G>A (p.Gly186Ser) c.234G>A c.108+1161G>A n.576G>A | COSMIC COSMIC |
6 | g.131851267G>C | CA365662413 | ENPP1 | c.556G>C (p.Gly186Arg) c.234G>C c.108+1161G>C n.576G>C | ClinVar dbSNP gnomAD v4 |
6 | g.131851267G= | CA1664253772 | ENPP1 | c.556G= (p.Gly186=) c.234G= c.108+1161G= n.576G= | |
6 | g.131851267G>T | CA365662416 | ENPP1 | c.556G>T (p.Gly186Cys) c.234G>T c.108+1161G>T n.576G>T | |
6 | g.131851268G>A | CA365662423 | ENPP1 | c.556+1G>A (n.556+1G>A) c.234+1G>A c.108+1162G>A n.577G>A | |
6 | g.131851268G>C | CA365662426 | ENPP1 | c.556+1G>C (n.556+1G>C) c.234+1G>C c.108+1162G>C n.577G>C | |
6 | g.131851268G>T | CA365662429 | ENPP1 | c.556+1G>T (n.556+1G>T) c.234+1G>T c.108+1162G>T n.577G>T | |
6 | g.131851269T>A | CA365662439 | ENPP1 | c.556+2T>A (n.556+2T>A) c.234+2T>A c.108+1163T>A n.578T>A | |
6 | g.131851269T>C | CA365662442 | ENPP1 | c.556+2T>C (n.556+2T>C) c.234+2T>C c.108+1163T>C n.578T>C | gnomAD v4 |
6 | g.131851269T>G | CA365662433 | ENPP1 | c.556+2T>G (n.556+2T>G) c.234+2T>G c.108+1163T>G n.578T>G | ClinVar gnomAD v4 |
6 | g.131851270C= | CA1664253773 | ENPP1 | c.556+3C= (n.556+3C=) c.234+3C= c.108+1164C= n.579C= | |
6 | g.131851270C>G | CA1664253774 | ENPP1 | c.556+3C>G (n.556+3C>G) c.234+3C>G c.108+1164C>G n.579C>G | dbSNP |
6 | g.131851270C>T | CA570097329 | ENPP1 | c.556+3C>T (n.556+3C>T) c.234+3C>T c.108+1164C>T n.579C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.131851271A>G | CA2680366338 | ENPP1 | c.556+4A>G (n.556+4A>G) c.234+4A>G c.108+1165A>G n.580A>G | gnomAD v4 |
6 | g.131851272G>C | CA147926433 | ENPP1 | c.556+5G>C (n.556+5G>C) c.234+5G>C c.108+1166G>C n.581G>C | dbSNP |
6 | g.131851272G= | CA1664253775 | ENPP1 | c.556+5G= (n.556+5G=) c.234+5G= c.108+1166G= n.581G= | |
6 | g.131851273G>C | CA147926435 | ENPP1 | c.556+6G>C (n.556+6G>C) c.234+6G>C c.108+1167G>C n.582G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851273G= | CA1664253776 | ENPP1 | c.556+6G= (n.556+6G=) c.234+6G= c.108+1167G= n.582G= | |
6 | g.131851274T>A | CA147926436 | ENPP1 | c.556+7T>A (n.556+7T>A) c.234+7T>A c.108+1168T>A n.583T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851274T>C | CA1094555077 | ENPP1 | c.556+7T>C (n.556+7T>C) c.234+7T>C c.108+1168T>C n.583T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851274T= | CA1664253777 | ENPP1 | c.556+7T= (n.556+7T=) c.234+7T= c.108+1168T= n.583T= | |
6 | g.131851275G>A | CA570097330 | ENPP1 | c.556+8G>A (n.556+8G>A) c.234+8G>A c.108+1169G>A n.584G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.131851275G>C | CA4001927 | ENPP1 | c.556+8G>C (n.556+8G>C) c.234+8G>C c.108+1169G>C n.584G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851275G= | CA1664253778 | ENPP1 | c.556+8G= (n.556+8G=) c.234+8G= c.108+1169G= n.584G= | |
6 | g.131851275G>T | CA4001928 | ENPP1 | c.556+8G>T (n.556+8G>T) c.234+8G>T c.108+1169G>T n.584G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851276C>T | CA2680366339 | ENPP1 | c.556+9C>T (n.556+9C>T) c.234+9C>T c.108+1170C>T n.585C>T | gnomAD v4 |
6 | g.131851277T>C | CA570097331 | ENPP1 | c.556+10T>C (n.556+10T>C) c.234+10T>C c.108+1171T>C n.586T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851277T= | CA1664253779 | ENPP1 | c.556+10T= (n.556+10T=) c.234+10T= c.108+1171T= n.586T= | |
6 | g.131851278C>A | CA2680366340 | ENPP1 | c.556+11C>A (n.556+11C>A) c.234+11C>A c.108+1172C>A n.587C>A | gnomAD v4 |
6 | g.131851278C= | CA1664253780 | ENPP1 | c.556+11C= (n.556+11C=) c.234+11C= c.108+1172C= n.587C= | |
6 | g.131851278C>T | CA4001929 | ENPP1 | c.556+11C>T (n.556+11C>T) c.234+11C>T c.108+1172C>T n.587C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851279G>A | CA4001930 | ENPP1 | c.556+12G>A (n.556+12G>A) c.234+12G>A c.108+1173G>A n.588G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851279G= | CA1664253781 | ENPP1 | c.556+12G= (n.556+12G=) c.234+12G= c.108+1173G= n.588G= | |
6 | g.131851279G>T | CA2680366341 | ENPP1 | c.556+12G>T (n.556+12G>T) c.234+12G>T c.108+1173G>T n.588G>T | gnomAD v4 |
6 | g.131851280T>C | CA4001931 | ENPP1 | c.556+13T>C (n.556+13T>C) c.234+13T>C c.108+1174T>C n.589T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851280T= | CA1664253782 | ENPP1 | c.556+13T= (n.556+13T=) c.234+13T= c.108+1174T= n.589T= | |
6 | g.131851283G>A | CA2773093465 | ENPP1 | c.556+16G>A (n.556+16G>A) c.234+16G>A c.108+1177G>A n.592G>A | |
6 | g.131851283G>C | CA2680366342 | ENPP1 | c.556+16G>C (n.556+16G>C) c.234+16G>C c.108+1177G>C n.592G>C | gnomAD v4 |
6 | g.131851284G= | CA1664253783 | ENPP1 | c.556+17G= (n.556+17G=) c.234+17G= c.108+1178G= n.593G= | |
6 | g.131851284G>T | CA4001932 | ENPP1 | c.556+17G>T (n.556+17G>T) c.234+17G>T c.108+1178G>T n.593G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851285C= | CA1664253784 | ENPP1 | c.556+18C= (n.556+18C=) c.234+18C= c.108+1179C= n.594C= | |
6 | g.131851285C>G | CA4001933 | ENPP1 | c.556+18C>G (n.556+18C>G) c.234+18C>G c.108+1179C>G n.594C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851285C>T | CA147926538 | ENPP1 | c.556+18C>T (n.556+18C>T) c.234+18C>T c.108+1179C>T n.594C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851286T>C | CA4001934 | ENPP1 | c.556+19T>C (n.556+19T>C) c.234+19T>C c.108+1180T>C n.595T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851286T= | CA1664253785 | ENPP1 | c.556+19T= (n.556+19T=) c.234+19T= c.108+1180T= n.595T= | |
6 | g.131851287C>A | CA4001935 | ENPP1 | c.556+20C>A (n.556+20C>A) c.234+20C>A c.108+1181C>A n.596C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851287C= | CA1664253786 | ENPP1 | c.556+20C= (n.556+20C=) c.234+20C= c.108+1181C= n.596C= | |
6 | g.131851288T>C | CA4001936 | ENPP1 | c.556+21T>C (n.556+21T>C) c.234+21T>C c.108+1182T>C n.597T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851288T= | CA1664253787 | ENPP1 | c.556+21T= (n.556+21T=) c.234+21T= c.108+1182T= n.597T= | |
6 | g.131851289G>A | CA4001937 | ENPP1 | c.556+22G>A (n.556+22G>A) c.234+22G>A c.108+1183G>A n.598G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.131851289G= | CA1664253788 | ENPP1 | c.556+22G= (n.556+22G=) c.234+22G= c.108+1183G= n.598G= | |
6 | g.131851294_131851296del | CA2680366343 | ENPP1 | c.556+27_556+29del (n.556+27_556+29del) c.234+27_234+29del c.108+1188_108+1190del n.603_605del | gnomAD v4 |
6 | g.131851290C>T | CA2680366344 | ENPP1 | c.556+23C>T (n.556+23C>T) c.234+23C>T c.108+1184C>T n.599C>T | dbSNP gnomAD v4 |
6 | g.131851291A= | CA1664253789 | ENPP1 | c.556+24A= (n.556+24A=) c.234+24A= c.108+1185A= n.600A= | |
6 | g.131851291A>G | CA4001938 | ENPP1 | c.556+24A>G (n.556+24A>G) c.234+24A>G c.108+1185A>G n.600A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851292G>A | CA4001939 | ENPP1 | c.556+25G>A (n.556+25G>A) c.234+25G>A c.108+1186G>A n.601G>A | dbSNP ExAC gnomAD v2 |
6 | g.131851292G= | CA1664253790 | ENPP1 | c.556+25G= (n.556+25G=) c.234+25G= c.108+1186G= n.601G= | |
6 | g.131851293C>T | CA2680366345 | ENPP1 | c.556+26C>T (n.556+26C>T) c.234+26C>T c.108+1187C>T n.602C>T | gnomAD v4 |
6 | g.131851295G= | CA1664253791 | ENPP1 | c.556+28G= (n.556+28G=) c.234+28G= c.108+1189G= n.604G= | |
6 | g.131851295G>T | CA1664253792 | ENPP1 | c.556+28G>T (n.556+28G>T) c.234+28G>T c.108+1189G>T n.604G>T | dbSNP gnomAD v4 |
6 | g.131851296C>G | CA2773093470 | ENPP1 | c.556+29C>G (n.556+29C>G) c.234+29C>G c.108+1190C>G n.605C>G | |
6 | g.131851296C>T | CA2773093471 | ENPP1 | c.556+29C>T (n.556+29C>T) c.234+29C>T c.108+1190C>T n.605C>T | |
6 | g.131851297C= | CA1664253793 | ENPP1 | c.556+30C= (n.556+30C=) c.234+30C= c.108+1191C= n.606C= | |
6 | g.131851297C>G | CA1664253794 | ENPP1 | c.556+30C>G (n.556+30C>G) c.234+30C>G c.108+1191C>G n.606C>G | dbSNP gnomAD v4 |
6 | g.131851297C>T | CA4001940 | ENPP1 | c.556+30C>T (n.556+30C>T) c.234+30C>T c.108+1191C>T n.606C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851298T>A | CA2773093472 | ENPP1 | c.556+31T>A (n.556+31T>A) c.234+31T>A c.108+1192T>A n.607T>A | |
6 | g.131851301T>C | CA2680366346 | ENPP1 | c.556+34T>C (n.556+34T>C) c.234+34T>C c.108+1195T>C n.610T>C | gnomAD v4 |
6 | g.131851305T>C | CA4001941 | ENPP1 | c.556+38T>C (n.556+38T>C) c.234+38T>C c.108+1199T>C n.614T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851305T= | CA1664253795 | ENPP1 | c.556+38T= (n.556+38T=) c.234+38T= c.108+1199T= n.614T= | |
6 | g.131851307C>G | CA2680366347 | ENPP1 | c.556+40C>G (n.556+40C>G) c.234+40C>G c.108+1201C>G n.616C>G | gnomAD v4 |
6 | g.131851309A>G | CA2680366348 | ENPP1 | c.556+42A>G (n.556+42A>G) c.234+42A>G c.108+1203A>G n.618A>G | gnomAD v4 |
6 | g.131851311C>A | CA4001943 | ENPP1 | c.556+44C>A (n.556+44C>A) c.234+44C>A c.108+1205C>A n.620C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851311C= | CA1664253796 | ENPP1 | c.556+44C= (n.556+44C=) c.234+44C= c.108+1205C= n.620C= | |
6 | g.131851311C>T | CA4001942 | ENPP1 | c.556+44C>T (n.556+44C>T) c.234+44C>T c.108+1205C>T n.620C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851312G>A | CA4001944 | ENPP1 | c.556+45G>A (n.556+45G>A) c.234+45G>A c.108+1206G>A n.621G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851312G= | CA1664253797 | ENPP1 | c.556+45G= (n.556+45G=) c.234+45G= c.108+1206G= n.621G= | |
6 | g.131851314C>G | CA2680366349 | ENPP1 | c.556+47C>G (n.556+47C>G) c.234+47C>G c.108+1208C>G n.623C>G | gnomAD v4 |
6 | g.131851314C>T | CA2680366350 | ENPP1 | c.556+47C>T (n.556+47C>T) c.234+47C>T c.108+1208C>T n.623C>T | gnomAD v4 |
6 | g.131851316T>C | CA4001945 | ENPP1 | c.556+49T>C (n.556+49T>C) c.234+49T>C c.108+1210T>C n.625T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851316T= | CA1664253798 | ENPP1 | c.556+49T= (n.556+49T=) c.234+49T= c.108+1210T= n.625T= | |
6 | g.131851318del | CA2680366351 | ENPP1 | c.556+51del (n.556+51del) c.234+51del c.108+1212del n.627del | gnomAD v4 |
6 | g.131851319C>A | CA2578742761 | ENPP1 | c.556+52C>A (n.556+52C>A) c.234+52C>A c.108+1213C>A n.628C>A | |
6 | g.131851319C= | CA1664253799 | ENPP1 | c.556+52C= (n.556+52C=) c.234+52C= c.108+1213C= n.628C= | |
6 | g.131851319C>G | CA2680366352 | ENPP1 | c.556+52C>G (n.556+52C>G) c.234+52C>G c.108+1213C>G n.628C>G | gnomAD v4 |
6 | g.131851319C>T | CA4001946 | ENPP1 | c.556+52C>T (n.556+52C>T) c.234+52C>T c.108+1213C>T n.628C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851320G>A | CA147926593 | ENPP1 | c.556+53G>A (n.556+53G>A) c.234+53G>A c.108+1214G>A n.629G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851320G= | CA1664253800 | ENPP1 | c.556+53G= (n.556+53G=) c.234+53G= c.108+1214G= n.629G= | |
6 | g.131851320G>T | CA2680366354 | ENPP1 | c.556+53G>T (n.556+53G>T) c.234+53G>T c.108+1214G>T n.629G>T | gnomAD v4 |
6 | g.131851323del | CA2680366353 | ENPP1 | c.556+56del (n.556+56del) c.234+56del c.108+1217del n.632del | gnomAD v4 |
6 | g.131851321G>T | CA2773093475 | ENPP1 | c.556+54G>T (n.556+54G>T) c.234+54G>T c.108+1215G>T n.630G>T | |
6 | g.131851322G>A | CA651158061 | ENPP1 | c.556+55G>A (n.556+55G>A) c.234+55G>A c.108+1216G>A n.631G>A | COSMIC |
6 | g.131851325T>C | CA1664253802 | ENPP1 | c.556+58T>C (n.556+58T>C) c.234+58T>C c.108+1219T>C n.634T>C | dbSNP gnomAD v4 |
6 | g.131851325T= | CA1664253801 | ENPP1 | c.556+58T= (n.556+58T=) c.234+58T= c.108+1219T= n.634T= | |
6 | g.131851327dup | CA2680366355 | ENPP1 | c.556+60dup (n.556+60dup) c.234+60dup c.108+1221dup n.636dup | gnomAD v4 |
6 | g.131851326T>A | CA2680366356 | ENPP1 | c.556+59T>A (n.556+59T>A) c.234+59T>A c.108+1220T>A n.635T>A | gnomAD v4 |