Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.131851157G>A | CA365661089 | ENPP1 | c.446G>A (p.Cys149Tyr) c.124G>A c.108+1051G>A n.466G>A | |
6 | g.131851157G>C | CA145332 | ENPP1 | c.446G>C (p.Cys149Ser) c.124G>C c.108+1051G>C n.466G>C | ClinVar dbSNP |
6 | g.131851157G= | CA1664253732 | ENPP1 | c.446G= (p.Cys149=) c.124G= c.108+1051G= n.466G= | |
6 | g.131851157G>T | CA365661092 | ENPP1 | c.446G>T (p.Cys149Phe) c.124G>T c.108+1051G>T n.466G>T | |
6 | g.131851158C>A | CA365661093 | ENPP1 | c.447C>A (p.Cys149Ter) c.125C>A c.108+1052C>A n.467C>A | |
6 | g.131851158C>G | CA365661096 | ENPP1 | c.447C>G (p.Cys149Trp) c.125C>G c.108+1052C>G n.467C>G | |
6 | g.131851158C>T | CA452154539 | ENPP1 | c.447C>T (p.Cys149=) c.125C>T c.108+1052C>T n.467C>T | gnomAD v4 |
6 | g.131851159A= | CA1664253733 | ENPP1 | c.448A= (p.Asn150=) c.126A= c.108+1053A= n.468A= | |
6 | g.131851159A>C | CA147926229 | ENPP1 | c.448A>C (p.Asn150His) c.126A>C c.108+1053A>C n.468A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.131851159A>G | CA365661109 | ENPP1 | c.448A>G (p.Asn150Asp) c.126A>G c.108+1053A>G n.468A>G | COSMIC |
6 | g.131851159A>T | CA365661113 | ENPP1 | c.448A>T (p.Asn150Tyr) c.126A>T c.108+1053A>T n.468A>T | |
6 | g.131851160A= | CA1664253734 | ENPP1 | c.449A= (p.Asn150=) c.127A= c.108+1054A= n.469A= | |
6 | g.131851160A>C | CA365661114 | ENPP1 | c.449A>C (p.Asn150Thr) c.127A>C c.108+1054A>C n.469A>C | |
6 | g.131851160A>G | CA4001911 | ENPP1 | c.449A>G (p.Asn150Ser) c.127A>G c.108+1054A>G n.469A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851160A>T | CA365661120 | ENPP1 | c.449A>T (p.Asn150Ile) c.127A>T c.108+1054A>T n.469A>T | |
6 | g.131851161C>A | CA365661121 | ENPP1 | c.450C>A (p.Asn150Lys) c.128C>A c.108+1055C>A n.470C>A | dbSNP |
6 | g.131851161C>G | CA365661122 | ENPP1 | c.450C>G (p.Asn150Lys) c.128C>G c.108+1055C>G n.470C>G | gnomAD v4 |
6 | g.131851161C>T | CA452154540 | ENPP1 | c.450C>T (p.Asn150=) c.128C>T c.108+1055C>T n.470C>T | |
6 | g.131851162A>C | CA365661124 | ENPP1 | c.451A>C (p.Lys151Gln) c.129A>C c.108+1056A>C n.471A>C | |
6 | g.131851162A>G | CA365661127 | ENPP1 | c.451A>G (p.Lys151Glu) c.129A>G c.108+1056A>G n.471A>G | |
6 | g.131851162A>T | CA365661131 | ENPP1 | c.451A>T (p.Lys151Ter) c.129A>T c.108+1056A>T n.471A>T | |
6 | g.131851163A>C | CA365661137 | ENPP1 | c.452A>C (p.Lys151Thr) c.130A>C c.108+1057A>C n.472A>C | |
6 | g.131851163A>G | CA365661139 | ENPP1 | c.452A>G (p.Lys151Arg) c.130A>G c.108+1057A>G n.472A>G | |
6 | g.131851163A>T | CA365661140 | ENPP1 | c.452A>T (p.Lys151Ile) c.130A>T c.108+1057A>T n.472A>T | |
6 | g.131851164A>C | CA365661158 | ENPP1 | c.453A>C (p.Lys151Asn) c.131A>C c.108+1058A>C n.473A>C | |
6 | g.131851164A>G | CA452154541 | ENPP1 | c.453A>G (p.Lys151=) c.131A>G c.108+1058A>G n.473A>G | |
6 | g.131851164A>T | CA365661145 | ENPP1 | c.453A>T (p.Lys151Asn) c.131A>T c.108+1058A>T n.473A>T | |
6 | g.131851165T>A | CA365661168 | ENPP1 | c.454T>A (p.Phe152Ile) c.132T>A c.108+1059T>A n.474T>A | |
6 | g.131851165T>C | CA365661183 | ENPP1 | c.454T>C (p.Phe152Leu) c.132T>C c.108+1059T>C n.474T>C | |
6 | g.131851165T>G | CA365661192 | ENPP1 | c.454T>G (p.Phe152Val) c.132T>G c.108+1059T>G n.474T>G | ClinVar gnomAD v4 |
6 | g.131851166T>A | CA365661197 | ENPP1 | c.455T>A (p.Phe152Tyr) c.133T>A c.108+1060T>A n.475T>A | |
6 | g.131851166T>C | CA365661209 | ENPP1 | c.455T>C (p.Phe152Ser) c.133T>C c.108+1060T>C n.475T>C | gnomAD v4 |
6 | g.131851166T>G | CA365661211 | ENPP1 | c.455T>G (p.Phe152Cys) c.133T>G c.108+1060T>G n.475T>G | |
6 | g.131851167C>A | CA365661213 | ENPP1 | c.456C>A (p.Phe152Leu) c.134C>A c.108+1061C>A n.476C>A | |
6 | g.131851167C>G | CA365661215 | ENPP1 | c.456C>G (p.Phe152Leu) c.134C>G c.108+1061C>G n.476C>G | |
6 | g.131851167C>T | CA452154542 | ENPP1 | c.456C>T (p.Phe152=) c.134C>T c.108+1061C>T n.476C>T | |
6 | g.131851168A>C | CA452154543 | ENPP1 | c.457A>C (p.Arg153=) c.135A>C c.108+1062A>C n.477A>C | |
6 | g.131851168A>G | CA365661220 | ENPP1 | c.457A>G (p.Arg153Gly) c.135A>G c.108+1062A>G n.477A>G | |
6 | g.131851168A>T | CA365661229 | ENPP1 | c.457A>T (p.Arg153Trp) c.135A>T c.108+1062A>T n.477A>T | |
6 | g.131851169G>A | CA365661230 | ENPP1 | c.458G>A (p.Arg153Lys) c.136G>A c.108+1063G>A n.478G>A | |
6 | g.131851169G>C | CA365661231 | ENPP1 | c.458G>C (p.Arg153Thr) c.136G>C c.108+1063G>C n.478G>C | |
6 | g.131851169G>T | CA365661234 | ENPP1 | c.458G>T (p.Arg153Met) c.136G>T c.108+1063G>T n.478G>T | |
6 | g.131851170G>A | CA4001912 | ENPP1 | c.459G>A (p.Arg153=) c.137G>A c.108+1064G>A n.479G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851170G>C | CA365661240 | ENPP1 | c.459G>C (p.Arg153Ser) c.137G>C c.108+1064G>C n.479G>C | gnomAD v4 |
6 | g.131851170G= | CA1664253735 | ENPP1 | c.459G= (p.Arg153=) c.137G= c.108+1064G= n.479G= | |
6 | g.131851170G>T | CA365661239 | ENPP1 | c.459G>T (p.Arg153Ser) c.137G>T c.108+1064G>T n.479G>T | dbSNP |
6 | g.131851173_131851174del | CA2680366337 | ENPP1 | c.462_463del (p.Cys154TrpfsTer2) c.140_141del c.108+1067_108+1068del n.482_483del | gnomAD v4 |
6 | g.131851171T>A | CA365661243 | ENPP1 | c.460T>A (p.Cys154Ser) c.138T>A c.108+1065T>A n.480T>A | |
6 | g.131851171T>C | CA365661251 | ENPP1 | c.460T>C (p.Cys154Arg) c.138T>C c.108+1065T>C n.480T>C | gnomAD v4 |
6 | g.131851171T>G | CA365661247 | ENPP1 | c.460T>G (p.Cys154Gly) c.138T>G c.108+1065T>G n.480T>G |