Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.131851137del | CA2680366335 | ENPP1 | c.431-5del (n.431-5del) c.109-5del c.108+1031del n.451-5del | gnomAD v4 |
6 | g.131851136_131851147delinsTTCTAGAACATA | CA1664253720 | ENPP1 | c.431-6_436delinsTTCTAGAACATA c.109-6_114delinsTTCTAGAACATA c.108+1030_108+1041delinsTTCTAGAACATA n.451-6_456delinsTTCTAGAACATA | |
6 | g.131851138_131851148del | CA1664253721 | ENPP1 | c.431-4_437del c.109-4_115del c.108+1032_108+1042del n.451-4_457del | dbSNP |
6 | g.131851139T>C | CA2680366336 | ENPP1 | c.431-3T>C (n.431-3T>C) c.109-3T>C c.108+1033T>C n.451-3T>C | gnomAD v4 |
6 | g.131851140A= | CA1664253722 | ENPP1 | c.431-2A= (n.431-2A=) c.109-2A= c.108+1034A= n.451-2A= | |
6 | g.131851140A>C | CA365660798 | ENPP1 | c.431-2A>C (n.431-2A>C) c.109-2A>C c.108+1034A>C n.451-2A>C | |
6 | g.131851140A>G | CA4001908 | ENPP1 | c.431-2A>G (n.431-2A>G) c.109-2A>G c.108+1034A>G n.451-2A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851140A>T | CA365660801 | ENPP1 | c.431-2A>T (n.431-2A>T) c.109-2A>T c.108+1034A>T n.451-2A>T | |
6 | g.131851141G>A | CA365660825 | ENPP1 | c.431-1G>A (n.431-1G>A) c.109-1G>A c.108+1035G>A n.451-1G>A | |
6 | g.131851141G>C | CA365660832 | ENPP1 | c.431-1G>C (n.431-1G>C) c.109-1G>C c.108+1035G>C n.451-1G>C | gnomAD v4 |
6 | g.131851141G>T | CA365660853 | ENPP1 | c.431-1G>T (n.431-1G>T) c.109-1G>T c.108+1035G>T n.451-1G>T | |
6 | g.131851142A>C | CA365660858 | ENPP1 | c.431A>C (p.Glu144Ala) c.109A>C c.108+1036A>C n.451A>C | |
6 | g.131851142A>G | CA365660863 | ENPP1 | c.431A>G (p.Glu144Gly) c.109A>G c.108+1036A>G n.451A>G | |
6 | g.131851142A>T | CA365660870 | ENPP1 | c.431A>T (p.Glu144Val) c.109A>T c.108+1036A>T n.451A>T | |
6 | g.131851143A>C | CA365660885 | ENPP1 | c.432A>C (p.Glu144Asp) c.110A>C c.108+1037A>C n.452A>C | |
6 | g.131851143A>G | CA452154531 | ENPP1 | c.432A>G (p.Glu144=) c.110A>G c.108+1037A>G n.452A>G | gnomAD v4 |
6 | g.131851143A>T | CA365660892 | ENPP1 | c.432A>T (p.Glu144Asp) c.110A>T c.108+1037A>T n.452A>T | ClinVar |
6 | g.131851144C>A | CA365660899 | ENPP1 | c.433C>A (p.His145Asn) c.111C>A c.108+1038C>A n.453C>A | |
6 | g.131851144C>G | CA365660905 | ENPP1 | c.433C>G (p.His145Asp) c.111C>G c.108+1038C>G n.453C>G | |
6 | g.131851144C>T | CA365660910 | ENPP1 | c.433C>T (p.His145Tyr) c.111C>T c.108+1038C>T n.453C>T | gnomAD v4 |
6 | g.131851144_131851146delinsCAT | CA1664253723 | ENPP1 | c.433_435delinsCAT (p.His145=) c.111_113delinsCAT c.108+1038_108+1040delinsCAT n.453_455delinsCAT | |
6 | g.131851145A= | CA1664253725 | ENPP1 | c.434A= (p.His145=) c.112A= c.108+1039A= n.454A= | |
6 | g.131851145A>C | CA365660923 | ENPP1 | c.434A>C (p.His145Pro) c.112A>C c.108+1039A>C n.454A>C | |
6 | g.131851145A>G | CA4001909 | ENPP1 | c.434A>G (p.His145Arg) c.112A>G c.108+1039A>G n.454A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851145A>T | CA365660915 | ENPP1 | c.434A>T (p.His145Leu) c.112A>T c.108+1039A>T n.454A>T | |
6 | g.131851149_131851150del | CA1664253724 | ENPP1 | c.438_439del (p.Ile146MetfsTer10) c.116_117del c.108+1043_108+1044del n.458_459del | dbSNP |
6 | g.131851146T>A | CA365660935 | ENPP1 | c.435T>A (p.His145Gln) c.113T>A c.108+1040T>A n.455T>A | |
6 | g.131851146T>C | CA452154533 | ENPP1 | c.435T>C (p.His145=) c.113T>C c.108+1040T>C n.455T>C | gnomAD v4 |
6 | g.131851146T>G | CA365660934 | ENPP1 | c.435T>G (p.His145Gln) c.113T>G c.108+1040T>G n.455T>G | |
6 | g.131851147A= | CA1664253726 | ENPP1 | c.436A= (p.Ile146=) c.114A= c.108+1041A= n.456A= | |
6 | g.131851147A>C | CA147926200 | ENPP1 | c.436A>C (p.Ile146Leu) c.114A>C c.108+1041A>C n.456A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.131851147A>G | CA365660941 | ENPP1 | c.436A>G (p.Ile146Val) c.114A>G c.108+1041A>G n.456A>G | gnomAD v4 |
6 | g.131851147A>T | CA365660946 | ENPP1 | c.436A>T (p.Ile146Leu) c.114A>T c.108+1041A>T n.456A>T | |
6 | g.131851148T>A | CA365660947 | ENPP1 | c.437T>A (p.Ile146Lys) c.115T>A c.108+1042T>A n.457T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851148T>C | CA365660948 | ENPP1 | c.437T>C (p.Ile146Thr) c.115T>C c.108+1042T>C n.457T>C | |
6 | g.131851148T>G | CA365660949 | ENPP1 | c.437T>G (p.Ile146Arg) c.115T>G c.108+1042T>G n.457T>G | dbSNP |
6 | g.131851148T= | CA1664253727 | ENPP1 | c.437T= (p.Ile146=) c.115T= c.108+1042T= n.457T= | |
6 | g.131851149A= | CA1664253728 | ENPP1 | c.438A= (p.Ile146=) c.116A= c.108+1043A= n.458A= | |
6 | g.131851149A>C | CA452154534 | ENPP1 | c.438A>C (p.Ile146=) c.116A>C c.108+1043A>C n.458A>C | |
6 | g.131851149A>G | CA147926209 | ENPP1 | c.438A>G (p.Ile146Met) c.116A>G c.108+1043A>G n.458A>G | dbSNP gnomAD v4 |
6 | g.131851149A>T | CA452154535 | ENPP1 | c.438A>T (p.Ile146=) c.116A>T c.108+1043A>T n.458A>T | |
6 | g.131851150T>A | CA365660984 | ENPP1 | c.439T>A (p.Trp147Arg) c.117T>A c.108+1044T>A n.459T>A | |
6 | g.131851150T>C | CA147926211 | ENPP1 | c.439T>C (p.Trp147Arg) c.117T>C c.108+1044T>C n.459T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851150T>G | CA365660987 | ENPP1 | c.439T>G (p.Trp147Gly) c.117T>G c.108+1044T>G n.459T>G | |
6 | g.131851150T= | CA1664253729 | ENPP1 | c.439T= (p.Trp147=) c.117T= c.108+1044T= n.459T= | |
6 | g.131851151G>A | CA4001910 | ENPP1 | c.440G>A (p.Trp147Ter) c.118G>A c.108+1045G>A n.460G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851151G>C | CA365661003 | ENPP1 | c.440G>C (p.Trp147Ser) c.118G>C c.108+1045G>C n.460G>C | |
6 | g.131851151G= | CA1664253730 | ENPP1 | c.440G= (p.Trp147=) c.118G= c.108+1045G= n.460G= | |
6 | g.131851151G>T | CA365661009 | ENPP1 | c.440G>T (p.Trp147Leu) c.118G>T c.108+1045G>T n.460G>T | |
6 | g.131851152G>A | CA365661010 | ENPP1 | c.441G>A (p.Trp147Ter) c.119G>A c.108+1046G>A n.461G>A | gnomAD v4 |
6 | g.131851152G>C | CA365661016 | ENPP1 | c.441G>C (p.Trp147Cys) c.119G>C c.108+1046G>C n.461G>C | |
6 | g.131851152G>T | CA365661011 | ENPP1 | c.441G>T (p.Trp147Cys) c.119G>T c.108+1046G>T n.461G>T | |
6 | g.131851153A>C | CA365661025 | ENPP1 | c.442A>C (p.Thr148Pro) c.120A>C c.108+1047A>C n.462A>C | gnomAD v4 |
6 | g.131851153A>G | CA365661034 | ENPP1 | c.442A>G (p.Thr148Ala) c.120A>G c.108+1047A>G n.462A>G | |
6 | g.131851153A>T | CA365661053 | ENPP1 | c.442A>T (p.Thr148Ser) c.120A>T c.108+1047A>T n.462A>T | |
6 | g.131851154C>A | CA365661062 | ENPP1 | c.443C>A (p.Thr148Asn) c.121C>A c.108+1048C>A n.463C>A | |
6 | g.131851154C= | CA1664253731 | ENPP1 | c.443C= (p.Thr148=) c.121C= c.108+1048C= n.463C= | |
6 | g.131851154C>G | CA365661063 | ENPP1 | c.443C>G (p.Thr148Ser) c.121C>G c.108+1048C>G n.463C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851154C>T | CA365661064 | ENPP1 | c.443C>T (p.Thr148Ile) c.121C>T c.108+1048C>T n.463C>T | |
6 | g.131851155T>A | CA452154536 | ENPP1 | c.444T>A (p.Thr148=) c.122T>A c.108+1049T>A n.464T>A | |
6 | g.131851155T>C | CA452154537 | ENPP1 | c.444T>C (p.Thr148=) c.122T>C c.108+1049T>C n.464T>C | |
6 | g.131851155T>G | CA452154538 | ENPP1 | c.444T>G (p.Thr148=) c.122T>G c.108+1049T>G n.464T>G | |
6 | g.131851156T>A | CA365661065 | ENPP1 | c.445T>A (p.Cys149Ser) c.123T>A c.108+1050T>A n.465T>A | |
6 | g.131851156T>C | CA365661070 | ENPP1 | c.445T>C (p.Cys149Arg) c.123T>C c.108+1050T>C n.465T>C | |
6 | g.131851156T>G | CA365661082 | ENPP1 | c.445T>G (p.Cys149Gly) c.123T>G c.108+1050T>G n.465T>G | |
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 | |
6 | g.131851172G>A | CA365661259 | ENPP1 | c.461G>A (p.Cys154Tyr) c.139G>A c.108+1066G>A n.481G>A | dbSNP gnomAD v4 |
6 | g.131851172G>C | CA365661263 | ENPP1 | c.461G>C (p.Cys154Ser) c.139G>C c.108+1066G>C n.481G>C | |
6 | g.131851172G= | CA1664253736 | ENPP1 | c.461G= (p.Cys154=) c.139G= c.108+1066G= n.481G= | |
6 | g.131851172G>T | CA365661264 | ENPP1 | c.461G>T (p.Cys154Phe) c.139G>T c.108+1066G>T n.481G>T | |
6 | g.131851173T>A | CA365661266 | ENPP1 | c.462T>A (p.Cys154Ter) c.140T>A c.108+1067T>A n.482T>A | |
6 | g.131851173T>C | CA452154548 | ENPP1 | c.462T>C (p.Cys154=) c.140T>C c.108+1067T>C n.482T>C | |
6 | g.131851173T>G | CA365661268 | ENPP1 | c.462T>G (p.Cys154Trp) c.140T>G c.108+1067T>G n.482T>G | |
6 | g.131851174G>A | CA365661284 | ENPP1 | c.463G>A (p.Gly155Ser) c.141G>A c.108+1068G>A n.483G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851174G>C | CA365661280 | ENPP1 | c.463G>C (p.Gly155Arg) c.141G>C c.108+1068G>C n.483G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851174G= | CA1664253737 | ENPP1 | c.463G= (p.Gly155=) c.141G= c.108+1068G= n.483G= | |
6 | g.131851174G>T | CA365661275 | ENPP1 | c.463G>T (p.Gly155Cys) c.141G>T c.108+1068G>T n.483G>T | |
6 | g.131851175G>A | CA365661290 | ENPP1 | c.464G>A (p.Gly155Asp) c.142G>A c.108+1069G>A n.484G>A | |
6 | g.131851175G>C | CA365661296 | ENPP1 | c.464G>C (p.Gly155Ala) c.142G>C c.108+1069G>C n.484G>C | |
6 | g.131851175G>T | CA365661301 | ENPP1 | c.464G>T (p.Gly155Val) c.142G>T c.108+1069G>T n.484G>T | gnomAD v4 |
6 | g.131851176T>A | CA452154553 | ENPP1 | c.465T>A (p.Gly155=) c.143T>A c.108+1070T>A n.485T>A | |
6 | g.131851176T>C | CA452154554 | ENPP1 | c.465T>C (p.Gly155=) c.143T>C c.108+1070T>C n.485T>C | |
6 | g.131851176T>G | CA452154555 | ENPP1 | c.465T>G (p.Gly155=) c.143T>G c.108+1070T>G n.485T>G | |
6 | g.131851177G>A | CA365661313 | ENPP1 | c.466G>A (p.Glu156Lys) c.144G>A c.108+1071G>A n.486G>A | |
6 | g.131851177G>C | CA365661318 | ENPP1 | c.466G>C (p.Glu156Gln) c.144G>C c.108+1071G>C n.486G>C | |
6 | g.131851177G= | CA1664253738 | ENPP1 | c.466G= (p.Glu156=) c.144G= c.108+1071G= n.486G= | |
6 | g.131851177G>T | CA365661320 | ENPP1 | c.466G>T (p.Glu156Ter) c.144G>T c.108+1071G>T n.486G>T | dbSNP |
6 | g.131851178A>C | CA365661333 | ENPP1 | c.467A>C (p.Glu156Ala) c.145A>C c.108+1072A>C n.487A>C | |
6 | g.131851178A>G | CA365661321 | ENPP1 | c.467A>G (p.Glu156Gly) c.145A>G c.108+1072A>G n.487A>G | |
6 | g.131851178A>T | CA365661326 | ENPP1 | c.467A>T (p.Glu156Val) c.145A>T c.108+1072A>T n.487A>T | |
6 | g.131851179G>A | CA452154559 | ENPP1 | c.468G>A (p.Glu156=) c.146G>A c.108+1073G>A n.488G>A | COSMIC |
6 | g.131851179G>C | CA365661338 | ENPP1 | c.468G>C (p.Glu156Asp) c.146G>C c.108+1073G>C n.488G>C | |
6 | g.131851179G>T | CA365661340 | ENPP1 | c.468G>T (p.Glu156Asp) c.146G>T c.108+1073G>T n.488G>T | |
6 | g.131851180A>C | CA365661347 | ENPP1 | c.469A>C (p.Lys157Gln) c.147A>C c.108+1074A>C n.489A>C | |
6 | g.131851180A>G | CA365661351 | ENPP1 | c.469A>G (p.Lys157Glu) c.147A>G c.108+1074A>G n.489A>G | |
6 | g.131851180A>T | CA365661355 | ENPP1 | c.469A>T (p.Lys157Ter) c.147A>T c.108+1074A>T n.489A>T | |
6 | g.131851181A>C | CA365661372 | ENPP1 | c.470A>C (p.Lys157Thr) c.148A>C c.108+1075A>C n.490A>C | |
6 | g.131851181A>G | CA365661383 | ENPP1 | c.470A>G (p.Lys157Arg) c.148A>G c.108+1075A>G n.490A>G | |
6 | g.131851181A>T | CA365661389 | ENPP1 | c.470A>T (p.Lys157Ile) c.148A>T c.108+1075A>T n.490A>T | |
6 | g.131851182A>C | CA365661390 | ENPP1 | c.471A>C (p.Lys157Asn) c.149A>C c.108+1076A>C n.491A>C | |
6 | g.131851182A>G | CA452154563 | ENPP1 | c.471A>G (p.Lys157=) c.149A>G c.108+1076A>G n.491A>G | |
6 | g.131851182A>T | CA365661391 | ENPP1 | c.471A>T (p.Lys157Asn) c.149A>T c.108+1076A>T n.491A>T | |
6 | g.131851183A>C | CA452154566 | ENPP1 | c.472A>C (p.Arg158=) c.150A>C c.108+1077A>C n.492A>C | |
6 | g.131851183A>G | CA365661394 | ENPP1 | c.472A>G (p.Arg158Gly) c.150A>G c.108+1077A>G n.492A>G | |
6 | g.131851183A>T | CA365661400 | ENPP1 | c.472A>T (p.Arg158Trp) c.150A>T c.108+1077A>T n.492A>T | |
6 | g.131851184G>A | CA365661401 | ENPP1 | c.473G>A (p.Arg158Lys) c.151G>A c.108+1078G>A n.493G>A | |
6 | g.131851184G>C | CA365661404 | ENPP1 | c.473G>C (p.Arg158Thr) c.151G>C c.108+1078G>C n.493G>C | |
6 | g.131851184G>T | CA365661402 | ENPP1 | c.473G>T (p.Arg158Met) c.151G>T c.108+1078G>T n.493G>T | |
6 | g.131851185G>A | CA452154571 | ENPP1 | c.474G>A (p.Arg158=) c.152G>A c.108+1079G>A n.494G>A | |
6 | g.131851185G>C | CA365661409 | ENPP1 | c.474G>C (p.Arg158Ser) c.152G>C c.108+1079G>C n.494G>C | |
6 | g.131851185G>T | CA365661410 | ENPP1 | c.474G>T (p.Arg158Ser) c.152G>T c.108+1079G>T n.494G>T | |
6 | g.131851186T>A | CA365661417 | ENPP1 | c.475T>A (p.Leu159Met) c.153T>A c.108+1080T>A n.495T>A | |
6 | g.131851186T>C | CA452154572 | ENPP1 | c.475T>C (p.Leu159=) c.153T>C c.108+1080T>C n.495T>C | |
6 | g.131851186T>G | CA365661423 | ENPP1 | c.475T>G (p.Leu159Val) c.153T>G c.108+1080T>G n.495T>G | |
6 | g.131851187T>A | CA365661455 | ENPP1 | c.476T>A (p.Leu159Ter) c.154T>A c.108+1081T>A n.496T>A | |
6 | g.131851187T>C | CA365661465 | ENPP1 | c.476T>C (p.Leu159Ser) c.154T>C c.108+1081T>C n.496T>C | |
6 | g.131851187T>G | CA365661470 | ENPP1 | c.476T>G (p.Leu159Trp) c.154T>G c.108+1081T>G n.496T>G | |
6 | g.131851188G>A | CA452154574 | ENPP1 | c.477G>A (p.Leu159=) c.155G>A c.108+1082G>A n.497G>A | dbSNP gnomAD v4 COSMIC COSMIC |
6 | g.131851188G>C | CA365661476 | ENPP1 | c.477G>C (p.Leu159Phe) c.155G>C c.108+1082G>C n.497G>C | |
6 | g.131851188G= | CA1664253739 | ENPP1 | c.477G= (p.Leu159=) c.155G= c.108+1082G= n.497G= | |
6 | g.131851188G>T | CA365661478 | ENPP1 | c.477G>T (p.Leu159Phe) c.155G>T c.108+1082G>T n.497G>T | |
6 | g.131851189A= | CA1664253740 | ENPP1 | c.478A= (p.Thr160=) c.156A= c.108+1083A= n.498A= | |
6 | g.131851189A>C | CA365661481 | ENPP1 | c.478A>C (p.Thr160Pro) c.156A>C c.108+1083A>C n.498A>C | |
6 | g.131851189A>G | CA365661484 | ENPP1 | c.478A>G (p.Thr160Ala) c.156A>G c.108+1083A>G n.498A>G | dbSNP gnomAD v4 |
6 | g.131851189A>T | CA4001913 | ENPP1 | c.478A>T (p.Thr160Ser) c.156A>T c.108+1083A>T n.498A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851190C>A | CA365661492 | ENPP1 | c.479C>A (p.Thr160Asn) c.157C>A c.108+1084C>A n.499C>A | gnomAD v4 |
6 | g.131851190C>G | CA365661489 | ENPP1 | c.479C>G (p.Thr160Ser) c.157C>G c.108+1084C>G n.499C>G | |
6 | g.131851190C>T | CA365661490 | ENPP1 | c.479C>T (p.Thr160Ile) c.157C>T c.108+1084C>T n.499C>T | gnomAD v4 |
6 | g.131851191C>A | CA452154579 | ENPP1 | c.480C>A (p.Thr160=) c.158C>A c.108+1085C>A n.500C>A | |
6 | g.131851191C= | CA1664253741 | ENPP1 | c.480C= (p.Thr160=) c.158C= c.108+1085C= n.500C= | |
6 | g.131851191C>G | CA452154580 | ENPP1 | c.480C>G (p.Thr160=) c.158C>G c.108+1085C>G n.500C>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.131851191C>T | CA4001914 | ENPP1 | c.480C>T (p.Thr160=) c.158C>T c.108+1085C>T n.500C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851192A= | CA1664253742 | ENPP1 | c.481A= (p.Arg161=) c.159A= c.108+1086A= n.501A= | |
6 | g.131851192A>C | CA452154582 | ENPP1 | c.481A>C (p.Arg161=) c.159A>C c.108+1086A>C n.501A>C | |
6 | g.131851192A>G | CA365661497 | ENPP1 | c.481A>G (p.Arg161Gly) c.159A>G c.108+1086A>G n.501A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851192A>T | CA365661515 | ENPP1 | c.481A>T (p.Arg161Ter) c.159A>T c.108+1086A>T n.501A>T | |
6 | g.131851193G>A | CA365661519 | ENPP1 | c.482G>A (p.Arg161Lys) c.160G>A c.108+1087G>A n.502G>A | gnomAD v4 |
6 | g.131851193G>C | CA365661520 | ENPP1 | c.482G>C (p.Arg161Thr) c.160G>C c.108+1087G>C n.502G>C | |
6 | g.131851193G>T | CA365661523 | ENPP1 | c.482G>T (p.Arg161Ile) c.160G>T c.108+1087G>T n.502G>T | |
6 | g.131851194A>C | CA365661527 | ENPP1 | c.483A>C (p.Arg161Ser) c.161A>C c.108+1088A>C n.503A>C | |
6 | g.131851194A>G | CA452154586 | ENPP1 | c.483A>G (p.Arg161=) c.161A>G c.108+1088A>G n.503A>G | |
6 | g.131851194A>T | CA365661528 | ENPP1 | c.483A>T (p.Arg161Ser) c.161A>T c.108+1088A>T n.503A>T | |
6 | g.131851195del | CA2578742760 | ENPP1 | c.484del (p.Ser162AlafsTer30) c.162del c.108+1089del n.504del | |
6 | g.131851195A= | CA1664253743 | ENPP1 | c.484A= (p.Ser162=) c.162A= c.108+1089A= n.504A= | |
6 | g.131851195A>C | CA365661532 | ENPP1 | c.484A>C (p.Ser162Arg) c.162A>C c.108+1089A>C n.504A>C | gnomAD v4 |
6 | g.131851195A>G | CA365661546 | ENPP1 | c.484A>G (p.Ser162Gly) c.162A>G c.108+1089A>G n.504A>G | ClinVar dbSNP gnomAD v4 |
6 | g.131851195A>T | CA365661547 | ENPP1 | c.484A>T (p.Ser162Cys) c.162A>T c.108+1089A>T n.504A>T | |
6 | g.131851196G>A | CA365661564 | ENPP1 | c.485G>A (p.Ser162Asn) c.163G>A c.108+1090G>A n.505G>A | |
6 | g.131851196G>C | CA365661563 | ENPP1 | c.485G>C (p.Ser162Thr) c.163G>C c.108+1090G>C n.505G>C | |
6 | g.131851196G>T | CA365661562 | ENPP1 | c.485G>T (p.Ser162Ile) c.163G>T c.108+1090G>T n.505G>T | |
6 | g.131851197C>A | CA365661570 | ENPP1 | c.486C>A (p.Ser162Arg) c.164C>A c.108+1091C>A n.506C>A | |
6 | g.131851197C>G | CA365661566 | ENPP1 | c.486C>G (p.Ser162Arg) c.164C>G c.108+1091C>G n.506C>G | |
6 | g.131851197C>T | CA452154590 | ENPP1 | c.486C>T (p.Ser162=) c.164C>T c.108+1091C>T n.506C>T | |
6 | g.131851198C>A | CA365661579 | ENPP1 | c.487C>A (p.Leu163Ile) c.165C>A c.108+1092C>A n.507C>A | |
6 | g.131851198C= | CA1664253744 | ENPP1 | c.487C= (p.Leu163=) c.165C= c.108+1092C= n.507C= | |
6 | g.131851198C>G | CA147926287 | ENPP1 | c.487C>G (p.Leu163Val) c.165C>G c.108+1092C>G n.507C>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.131851198C>T | CA365661589 | ENPP1 | c.487C>T (p.Leu163Phe) c.165C>T c.108+1092C>T n.507C>T | gnomAD v4 |
6 | g.131851199T>A | CA365661590 | ENPP1 | c.488T>A (p.Leu163His) c.166T>A c.108+1093T>A n.508T>A | |
6 | g.131851199T>C | CA365661591 | ENPP1 | c.488T>C (p.Leu163Pro) c.166T>C c.108+1093T>C n.508T>C | |
6 | g.131851199T>G | CA365661592 | ENPP1 | c.488T>G (p.Leu163Arg) c.166T>G c.108+1093T>G n.508T>G | |
6 | g.131851200C>A | CA452154593 | ENPP1 | c.489C>A (p.Leu163=) c.167C>A c.108+1094C>A n.509C>A | |
6 | g.131851200C>G | CA452154595 | ENPP1 | c.489C>G (p.Leu163=) c.167C>G c.108+1094C>G n.509C>G | |
6 | g.131851200C>T | CA452154596 | ENPP1 | c.489C>T (p.Leu163=) c.167C>T c.108+1094C>T n.509C>T | |
6 | g.131851201T>A | CA365661596 | ENPP1 | c.490T>A (p.Cys164Ser) c.168T>A c.108+1095T>A n.510T>A | |
6 | g.131851201T>C | CA365661593 | ENPP1 | c.490T>C (p.Cys164Arg) c.168T>C c.108+1095T>C n.510T>C | |
6 | g.131851201T>G | CA365661594 | ENPP1 | c.490T>G (p.Cys164Gly) c.168T>G c.108+1095T>G n.510T>G | |
6 | g.131851202G>A | CA365661605 | ENPP1 | c.491G>A (p.Cys164Tyr) c.169G>A c.108+1096G>A n.511G>A | ClinVar |
6 | g.131851202G>C | CA145331 | ENPP1 | c.491G>C (p.Cys164Ser) c.169G>C c.108+1096G>C n.511G>C | ClinVar dbSNP |
6 | g.131851202G= | CA1664253745 | ENPP1 | c.491G= (p.Cys164=) c.169G= c.108+1096G= n.511G= | |
6 | g.131851202G>T | CA365661608 | ENPP1 | c.491G>T (p.Cys164Phe) c.169G>T c.108+1096G>T n.511G>T | |
6 | g.131851203T>A | CA365661614 | ENPP1 | c.492T>A (p.Cys164Ter) c.170T>A c.108+1097T>A n.512T>A | |
6 | g.131851203T>C | CA452154597 | ENPP1 | c.492T>C (p.Cys164=) c.170T>C c.108+1097T>C n.512T>C | |
6 | g.131851203T>G | CA365661616 | ENPP1 | c.492T>G (p.Cys164Trp) c.170T>G c.108+1097T>G n.512T>G | |
6 | g.131851204G>A | CA4001915 | ENPP1 | c.493G>A (p.Ala165Thr) c.171G>A c.108+1098G>A n.513G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851204G>C | CA365661623 | ENPP1 | c.493G>C (p.Ala165Pro) c.171G>C c.108+1098G>C n.513G>C | |
6 | g.131851204G= | CA1664253746 | ENPP1 | c.493G= (p.Ala165=) c.171G= c.108+1098G= n.513G= | |
6 | g.131851204G>T | CA365661618 | ENPP1 | c.493G>T (p.Ala165Ser) c.171G>T c.108+1098G>T n.513G>T | gnomAD v4 |
6 | g.131851205C>A | CA365661630 | ENPP1 | c.494C>A (p.Ala165Asp) c.172C>A c.108+1099C>A n.514C>A | COSMIC |
6 | g.131851205C>G | CA365661641 | ENPP1 | c.494C>G (p.Ala165Gly) c.172C>G c.108+1099C>G n.514C>G | |
6 | g.131851205C>T | CA365661652 | ENPP1 | c.494C>T (p.Ala165Val) c.172C>T c.108+1099C>T n.514C>T | ClinVar |
6 | g.131851206C>A | CA452154601 | ENPP1 | c.495C>A (p.Ala165=) c.173C>A c.108+1100C>A n.515C>A | |
6 | g.131851206C= | CA1664253747 | ENPP1 | c.495C= (p.Ala165=) c.173C= c.108+1100C= n.515C= | |
6 | g.131851206C>G | CA452154602 | ENPP1 | c.495C>G (p.Ala165=) c.173C>G c.108+1100C>G n.515C>G | |
6 | g.131851206C>T | CA4001916 | ENPP1 | c.495C>T (p.Ala165=) c.173C>T c.108+1100C>T n.515C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851207T>A | CA365661659 | ENPP1 | c.496T>A (p.Cys166Ser) c.174T>A c.108+1101T>A n.516T>A | |
6 | g.131851207T>C | CA365661675 | ENPP1 | c.496T>C (p.Cys166Arg) c.174T>C c.108+1101T>C n.516T>C | |
6 | g.131851207T>G | CA365661679 | ENPP1 | c.496T>G (p.Cys166Gly) c.174T>G c.108+1101T>G n.516T>G | |
6 | g.131851208G>A | CA365661680 | ENPP1 | c.497G>A (p.Cys166Tyr) c.175G>A c.108+1102G>A n.517G>A | ClinVar |
6 | g.131851208G>C | CA365661681 | ENPP1 | c.497G>C (p.Cys166Ser) c.175G>C c.108+1102G>C n.517G>C | |
6 | g.131851208G>T | CA365661682 | ENPP1 | c.497G>T (p.Cys166Phe) c.175G>T c.108+1102G>T n.517G>T | gnomAD v4 |
6 | g.131851209T>A | CA365661689 | ENPP1 | c.498T>A (p.Cys166Ter) c.176T>A c.108+1103T>A n.518T>A | |
6 | g.131851209T>C | CA452154607 | ENPP1 | c.498T>C (p.Cys166=) c.176T>C c.108+1103T>C n.518T>C | |
6 | g.131851209T>G | CA365661705 | ENPP1 | c.498T>G (p.Cys166Trp) c.176T>G c.108+1103T>G n.518T>G | |
6 | g.131851210T>A | CA365661707 | ENPP1 | c.499T>A (p.Ser167Thr) c.177T>A c.108+1104T>A n.519T>A | |
6 | g.131851210T>C | CA365661715 | ENPP1 | c.499T>C (p.Ser167Pro) c.177T>C c.108+1104T>C n.519T>C | |
6 | g.131851210T>G | CA365661711 | ENPP1 | c.499T>G (p.Ser167Ala) c.177T>G c.108+1104T>G n.519T>G | |
6 | g.131851210_131851211delinsTC | CA1664253748 | ENPP1 | c.499_500delinsTC (p.Ser167=) c.177_178delinsTC c.108+1104_108+1105delinsTC n.519_520delinsTC | |
6 | g.131851211del | CA570097322 | ENPP1 | c.500del (p.Ser167Ter) c.178del c.108+1105del n.520del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851211C>A | CA365661721 | ENPP1 | c.500C>A (p.Ser167Ter) c.178C>A c.108+1105C>A n.520C>A | |
6 | g.131851211C>G | CA365661722 | ENPP1 | c.500C>G (p.Ser167Ter) c.178C>G c.108+1105C>G n.520C>G | |
6 | g.131851211C>T | CA365661728 | ENPP1 | c.500C>T (p.Ser167Leu) c.178C>T c.108+1105C>T n.520C>T | |
6 | g.131851212A= | CA1664253749 | ENPP1 | c.501A= (p.Ser167=) c.179A= c.108+1106A= n.521A= | |
6 | g.131851212A>C | CA452154611 | ENPP1 | c.501A>C (p.Ser167=) c.179A>C c.108+1106A>C n.521A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851212A>G | CA452154613 | ENPP1 | c.501A>G (p.Ser167=) c.179A>G c.108+1106A>G n.521A>G | dbSNP gnomAD v4 |
6 | g.131851212A>T | CA452154612 | ENPP1 | c.501A>T (p.Ser167=) c.179A>T c.108+1106A>T n.521A>T | ClinVar gnomAD v4 |
6 | g.131851213G>A | CA365661731 | ENPP1 | c.502G>A (p.Asp168Asn) c.180G>A c.108+1107G>A n.522G>A | COSMIC COSMIC |
6 | g.131851213G>C | CA4001917 | ENPP1 | c.502G>C (p.Asp168His) c.180G>C c.108+1107G>C n.522G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851213G= | CA1664253750 | ENPP1 | c.502G= (p.Asp168=) c.180G= c.108+1107G= n.522G= | |
6 | g.131851213G>T | CA365661736 | ENPP1 | c.502G>T (p.Asp168Tyr) c.180G>T c.108+1107G>T n.522G>T | |
6 | g.131851214A>C | CA365661740 | ENPP1 | c.503A>C (p.Asp168Ala) c.181A>C c.108+1108A>C n.523A>C | gnomAD v4 |
6 | g.131851214A>G | CA365661750 | ENPP1 | c.503A>G (p.Asp168Gly) c.181A>G c.108+1108A>G n.523A>G | |
6 | g.131851214A>T | CA365661753 | ENPP1 | c.503A>T (p.Asp168Val) c.181A>T c.108+1108A>T n.523A>T | |
6 | g.131851215T>A | CA365661762 | ENPP1 | c.504T>A (p.Asp168Glu) c.182T>A c.108+1109T>A n.524T>A | |
6 | g.131851215T>C | CA452154616 | ENPP1 | c.504T>C (p.Asp168=) c.182T>C c.108+1109T>C n.524T>C | |
6 | g.131851215T>G | CA365661765 | ENPP1 | c.504T>G (p.Asp168Glu) c.182T>G c.108+1109T>G n.524T>G | |
6 | g.131851216G>A | CA365661799 | ENPP1 | c.505G>A (p.Asp169Asn) c.183G>A c.108+1110G>A n.525G>A | |
6 | g.131851216G>C | CA365661798 | ENPP1 | c.505G>C (p.Asp169His) c.183G>C c.108+1110G>C n.525G>C | |
6 | g.131851216G>T | CA365661790 | ENPP1 | c.505G>T (p.Asp169Tyr) c.183G>T c.108+1110G>T n.525G>T | gnomAD v4 COSMIC COSMIC |
6 | g.131851217A>C | CA365661813 | ENPP1 | c.506A>C (p.Asp169Ala) c.184A>C c.108+1111A>C n.526A>C | |
6 | g.131851217A>G | CA365661819 | ENPP1 | c.506A>G (p.Asp169Gly) c.184A>G c.108+1111A>G n.526A>G | |
6 | g.131851217A>T | CA365661822 | ENPP1 | c.506A>T (p.Asp169Val) c.184A>T c.108+1111A>T n.526A>T | |
6 | g.131851218C>A | CA365661825 | ENPP1 | c.507C>A (p.Asp169Glu) c.185C>A c.108+1112C>A n.527C>A | |
6 | g.131851218C= | CA1664253751 | ENPP1 | c.507C= (p.Asp169=) c.185C= c.108+1112C= n.527C= | |
6 | g.131851218C>G | CA365661829 | ENPP1 | c.507C>G (p.Asp169Glu) c.185C>G c.108+1112C>G n.527C>G | |
6 | g.131851218C>T | CA452154619 | ENPP1 | c.507C>T (p.Asp169=) c.185C>T c.108+1112C>T n.527C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851219T>A | CA365661834 | ENPP1 | c.508T>A (p.Cys170Ser) c.186T>A c.108+1113T>A n.528T>A | |
6 | g.131851219T>C | CA365661838 | ENPP1 | c.508T>C (p.Cys170Arg) c.186T>C c.108+1113T>C n.528T>C | gnomAD v4 |
6 | g.131851219T>G | CA365661842 | ENPP1 | c.508T>G (p.Cys170Gly) c.186T>G c.108+1113T>G n.528T>G | gnomAD v4 |
6 | g.131851220G>A | CA365661845 | ENPP1 | c.509G>A (p.Cys170Tyr) c.187G>A c.108+1114G>A n.529G>A | gnomAD v4 |
6 | g.131851220G>C | CA365661849 | ENPP1 | c.509G>C (p.Cys170Ser) c.187G>C c.108+1114G>C n.529G>C | |
6 | g.131851220G>T | CA365661855 | ENPP1 | c.509G>T (p.Cys170Phe) c.187G>T c.108+1114G>T n.529G>T | |
6 | g.131851221C>A | CA365661864 | ENPP1 | c.510C>A (p.Cys170Ter) c.188C>A c.108+1115C>A n.530C>A | gnomAD v4 |
6 | g.131851221C>G | CA365661880 | ENPP1 | c.510C>G (p.Cys170Trp) c.188C>G c.108+1115C>G n.530C>G | |
6 | g.131851221C>T | CA452154622 | ENPP1 | c.510C>T (p.Cys170=) c.188C>T c.108+1115C>T n.530C>T | |
6 | g.131851222A= | CA1664253752 | ENPP1 | c.511A= (p.Lys171=) c.189A= c.108+1116A= n.531A= | |
6 | g.131851222A>C | CA147926329 | ENPP1 | c.511A>C (p.Lys171Gln) c.189A>C c.108+1116A>C n.531A>C | dbSNP |
6 | g.131851222A>G | CA365661886 | ENPP1 | c.511A>G (p.Lys171Glu) c.189A>G c.108+1116A>G n.531A>G | |
6 | g.131851222A>T | CA365661884 | ENPP1 | c.511A>T (p.Lys171Ter) c.189A>T c.108+1116A>T n.531A>T | ClinVar dbSNP |
6 | g.131851223A>C | CA365661889 | ENPP1 | c.512A>C (p.Lys171Thr) c.190A>C c.108+1117A>C n.532A>C | |
6 | g.131851223A>G | CA365661898 | ENPP1 | c.512A>G (p.Lys171Arg) c.190A>G c.108+1117A>G n.532A>G | gnomAD v4 |
6 | g.131851223A>T | CA365661892 | ENPP1 | c.512A>T (p.Lys171Met) c.190A>T c.108+1117A>T n.532A>T | |
6 | g.131851224G>A | CA452154628 | ENPP1 | c.513G>A (p.Lys171=) c.191G>A c.108+1118G>A n.533G>A | |
6 | g.131851224G>C | CA365661904 | ENPP1 | c.513G>C (p.Lys171Asn) c.191G>C c.108+1118G>C n.533G>C | |
6 | g.131851224G>T | CA365661909 | ENPP1 | c.513G>T (p.Lys171Asn) c.191G>T c.108+1118G>T n.533G>T | |
6 | g.131851225G>A | CA365661913 | ENPP1 | c.514G>A (p.Asp172Asn) c.192G>A c.108+1119G>A n.534G>A | |
6 | g.131851225G>C | CA365661914 | ENPP1 | c.514G>C (p.Asp172His) c.192G>C c.108+1119G>C n.534G>C | |
6 | g.131851225G>T | CA365661915 | ENPP1 | c.514G>T (p.Asp172Tyr) c.192G>T c.108+1119G>T n.534G>T | |
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 |