Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.131851134G>ACA2680366334ENPP1c.431-8G>A (n.431-8G>A)
c.109-8G>A
c.108+1028G>A
n.451-8G>A
gnomAD v4
6g.131851134G>CCA1094555011ENPP1c.431-8G>C (n.431-8G>C)
c.109-8G>C
c.108+1028G>C
n.451-8G>C
dbSNP gnomAD v3 gnomAD v4
6g.131851134G=CA1664253719ENPP1c.431-8G= (n.431-8G=)
c.109-8G=
c.108+1028G=
n.451-8G=
6g.131851134G>TCA2578742759ENPP1c.431-8G>T (n.431-8G>T)
c.109-8G>T
c.108+1028G>T
n.451-8G>T
6g.131851137delCA2680366335ENPP1c.431-5del (n.431-5del)
c.109-5del
c.108+1031del
n.451-5del
gnomAD v4
6g.131851136_131851147delinsTTCTAGAACATACA1664253720ENPP1c.431-6_436delinsTTCTAGAACATA
c.109-6_114delinsTTCTAGAACATA
c.108+1030_108+1041delinsTTCTAGAACATA
n.451-6_456delinsTTCTAGAACATA
6g.131851138_131851148delCA1664253721ENPP1c.431-4_437del
c.109-4_115del
c.108+1032_108+1042del
n.451-4_457del
dbSNP
6g.131851139T>CCA2680366336ENPP1c.431-3T>C (n.431-3T>C)
c.109-3T>C
c.108+1033T>C
n.451-3T>C
gnomAD v4
6g.131851140A=CA1664253722ENPP1c.431-2A= (n.431-2A=)
c.109-2A=
c.108+1034A=
n.451-2A=
6g.131851140A>CCA365660798ENPP1c.431-2A>C (n.431-2A>C)
c.109-2A>C
c.108+1034A>C
n.451-2A>C
6g.131851140A>GCA4001908ENPP1c.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
6g.131851140A>TCA365660801ENPP1c.431-2A>T (n.431-2A>T)
c.109-2A>T
c.108+1034A>T
n.451-2A>T
6g.131851141G>ACA365660825ENPP1c.431-1G>A (n.431-1G>A)
c.109-1G>A
c.108+1035G>A
n.451-1G>A
6g.131851141G>CCA365660832ENPP1c.431-1G>C (n.431-1G>C)
c.109-1G>C
c.108+1035G>C
n.451-1G>C
gnomAD v4
6g.131851141G>TCA365660853ENPP1c.431-1G>T (n.431-1G>T)
c.109-1G>T
c.108+1035G>T
n.451-1G>T
6g.131851142A>CCA365660858ENPP1c.431A>C (p.Glu144Ala)
c.109A>C
c.108+1036A>C
n.451A>C
6g.131851142A>GCA365660863ENPP1c.431A>G (p.Glu144Gly)
c.109A>G
c.108+1036A>G
n.451A>G
6g.131851142A>TCA365660870ENPP1c.431A>T (p.Glu144Val)
c.109A>T
c.108+1036A>T
n.451A>T
6g.131851143A>CCA365660885ENPP1c.432A>C (p.Glu144Asp)
c.110A>C
c.108+1037A>C
n.452A>C
6g.131851143A>GCA452154531ENPP1c.432A>G (p.Glu144=)
c.110A>G
c.108+1037A>G
n.452A>G
gnomAD v4
6g.131851143A>TCA365660892ENPP1c.432A>T (p.Glu144Asp)
c.110A>T
c.108+1037A>T
n.452A>T
ClinVar
6g.131851144C>ACA365660899ENPP1c.433C>A (p.His145Asn)
c.111C>A
c.108+1038C>A
n.453C>A
6g.131851144C>GCA365660905ENPP1c.433C>G (p.His145Asp)
c.111C>G
c.108+1038C>G
n.453C>G
6g.131851144C>TCA365660910ENPP1c.433C>T (p.His145Tyr)
c.111C>T
c.108+1038C>T
n.453C>T
gnomAD v4
6g.131851144_131851146delinsCATCA1664253723ENPP1c.433_435delinsCAT (p.His145=)
c.111_113delinsCAT
c.108+1038_108+1040delinsCAT
n.453_455delinsCAT
6g.131851145A=CA1664253725ENPP1c.434A= (p.His145=)
c.112A=
c.108+1039A=
n.454A=
6g.131851145A>CCA365660923ENPP1c.434A>C (p.His145Pro)
c.112A>C
c.108+1039A>C
n.454A>C
6g.131851145A>GCA4001909ENPP1c.434A>G (p.His145Arg)
c.112A>G
c.108+1039A>G
n.454A>G
dbSNP ExAC gnomAD v2 gnomAD v4
6g.131851145A>TCA365660915ENPP1c.434A>T (p.His145Leu)
c.112A>T
c.108+1039A>T
n.454A>T
6g.131851149_131851150delCA1664253724ENPP1c.438_439del (p.Ile146MetfsTer10)
c.116_117del
c.108+1043_108+1044del
n.458_459del
dbSNP
6g.131851146T>ACA365660935ENPP1c.435T>A (p.His145Gln)
c.113T>A
c.108+1040T>A
n.455T>A
6g.131851146T>CCA452154533ENPP1c.435T>C (p.His145=)
c.113T>C
c.108+1040T>C
n.455T>C
gnomAD v4
6g.131851146T>GCA365660934ENPP1c.435T>G (p.His145Gln)
c.113T>G
c.108+1040T>G
n.455T>G
6g.131851147A=CA1664253726ENPP1c.436A= (p.Ile146=)
c.114A=
c.108+1041A=
n.456A=
6g.131851147A>CCA147926200ENPP1c.436A>C (p.Ile146Leu)
c.114A>C
c.108+1041A>C
n.456A>C
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.131851147A>GCA365660941ENPP1c.436A>G (p.Ile146Val)
c.114A>G
c.108+1041A>G
n.456A>G
gnomAD v4
6g.131851147A>TCA365660946ENPP1c.436A>T (p.Ile146Leu)
c.114A>T
c.108+1041A>T
n.456A>T
6g.131851148T>ACA365660947ENPP1c.437T>A (p.Ile146Lys)
c.115T>A
c.108+1042T>A
n.457T>A
dbSNP gnomAD v3 gnomAD v4
6g.131851148T>CCA365660948ENPP1c.437T>C (p.Ile146Thr)
c.115T>C
c.108+1042T>C
n.457T>C
6g.131851148T>GCA365660949ENPP1c.437T>G (p.Ile146Arg)
c.115T>G
c.108+1042T>G
n.457T>G
dbSNP
6g.131851148T=CA1664253727ENPP1c.437T= (p.Ile146=)
c.115T=
c.108+1042T=
n.457T=
6g.131851149A=CA1664253728ENPP1c.438A= (p.Ile146=)
c.116A=
c.108+1043A=
n.458A=
6g.131851149A>CCA452154534ENPP1c.438A>C (p.Ile146=)
c.116A>C
c.108+1043A>C
n.458A>C
6g.131851149A>GCA147926209ENPP1c.438A>G (p.Ile146Met)
c.116A>G
c.108+1043A>G
n.458A>G
dbSNP gnomAD v4
6g.131851149A>TCA452154535ENPP1c.438A>T (p.Ile146=)
c.116A>T
c.108+1043A>T
n.458A>T
6g.131851150T>ACA365660984ENPP1c.439T>A (p.Trp147Arg)
c.117T>A
c.108+1044T>A
n.459T>A
6g.131851150T>CCA147926211ENPP1c.439T>C (p.Trp147Arg)
c.117T>C
c.108+1044T>C
n.459T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.131851150T>GCA365660987ENPP1c.439T>G (p.Trp147Gly)
c.117T>G
c.108+1044T>G
n.459T>G
6g.131851150T=CA1664253729ENPP1c.439T= (p.Trp147=)
c.117T=
c.108+1044T=
n.459T=
6g.131851151G>ACA4001910ENPP1c.440G>A (p.Trp147Ter)
c.118G>A
c.108+1045G>A
n.460G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851151G>CCA365661003ENPP1c.440G>C (p.Trp147Ser)
c.118G>C
c.108+1045G>C
n.460G>C
6g.131851151G=CA1664253730ENPP1c.440G= (p.Trp147=)
c.118G=
c.108+1045G=
n.460G=
6g.131851151G>TCA365661009ENPP1c.440G>T (p.Trp147Leu)
c.118G>T
c.108+1045G>T
n.460G>T
6g.131851152G>ACA365661010ENPP1c.441G>A (p.Trp147Ter)
c.119G>A
c.108+1046G>A
n.461G>A
gnomAD v4
6g.131851152G>CCA365661016ENPP1c.441G>C (p.Trp147Cys)
c.119G>C
c.108+1046G>C
n.461G>C
6g.131851152G>TCA365661011ENPP1c.441G>T (p.Trp147Cys)
c.119G>T
c.108+1046G>T
n.461G>T
6g.131851153A>CCA365661025ENPP1c.442A>C (p.Thr148Pro)
c.120A>C
c.108+1047A>C
n.462A>C
gnomAD v4
6g.131851153A>GCA365661034ENPP1c.442A>G (p.Thr148Ala)
c.120A>G
c.108+1047A>G
n.462A>G
6g.131851153A>TCA365661053ENPP1c.442A>T (p.Thr148Ser)
c.120A>T
c.108+1047A>T
n.462A>T
6g.131851154C>ACA365661062ENPP1c.443C>A (p.Thr148Asn)
c.121C>A
c.108+1048C>A
n.463C>A
6g.131851154C=CA1664253731ENPP1c.443C= (p.Thr148=)
c.121C=
c.108+1048C=
n.463C=
6g.131851154C>GCA365661063ENPP1c.443C>G (p.Thr148Ser)
c.121C>G
c.108+1048C>G
n.463C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851154C>TCA365661064ENPP1c.443C>T (p.Thr148Ile)
c.121C>T
c.108+1048C>T
n.463C>T
6g.131851155T>ACA452154536ENPP1c.444T>A (p.Thr148=)
c.122T>A
c.108+1049T>A
n.464T>A
6g.131851155T>CCA452154537ENPP1c.444T>C (p.Thr148=)
c.122T>C
c.108+1049T>C
n.464T>C
6g.131851155T>GCA452154538ENPP1c.444T>G (p.Thr148=)
c.122T>G
c.108+1049T>G
n.464T>G
6g.131851156T>ACA365661065ENPP1c.445T>A (p.Cys149Ser)
c.123T>A
c.108+1050T>A
n.465T>A
6g.131851156T>CCA365661070ENPP1c.445T>C (p.Cys149Arg)
c.123T>C
c.108+1050T>C
n.465T>C
6g.131851156T>GCA365661082ENPP1c.445T>G (p.Cys149Gly)
c.123T>G
c.108+1050T>G
n.465T>G
6g.131851157G>ACA365661089ENPP1c.446G>A (p.Cys149Tyr)
c.124G>A
c.108+1051G>A
n.466G>A
6g.131851157G>CCA145332ENPP1c.446G>C (p.Cys149Ser)
c.124G>C
c.108+1051G>C
n.466G>C
ClinVar dbSNP
6g.131851157G=CA1664253732ENPP1c.446G= (p.Cys149=)
c.124G=
c.108+1051G=
n.466G=
6g.131851157G>TCA365661092ENPP1c.446G>T (p.Cys149Phe)
c.124G>T
c.108+1051G>T
n.466G>T
6g.131851158C>ACA365661093ENPP1c.447C>A (p.Cys149Ter)
c.125C>A
c.108+1052C>A
n.467C>A
6g.131851158C>GCA365661096ENPP1c.447C>G (p.Cys149Trp)
c.125C>G
c.108+1052C>G
n.467C>G
6g.131851158C>TCA452154539ENPP1c.447C>T (p.Cys149=)
c.125C>T
c.108+1052C>T
n.467C>T
gnomAD v4
6g.131851159A=CA1664253733ENPP1c.448A= (p.Asn150=)
c.126A=
c.108+1053A=
n.468A=
6g.131851159A>CCA147926229ENPP1c.448A>C (p.Asn150His)
c.126A>C
c.108+1053A>C
n.468A>C
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.131851159A>GCA365661109ENPP1c.448A>G (p.Asn150Asp)
c.126A>G
c.108+1053A>G
n.468A>G
COSMIC
6g.131851159A>TCA365661113ENPP1c.448A>T (p.Asn150Tyr)
c.126A>T
c.108+1053A>T
n.468A>T
6g.131851160A=CA1664253734ENPP1c.449A= (p.Asn150=)
c.127A=
c.108+1054A=
n.469A=
6g.131851160A>CCA365661114ENPP1c.449A>C (p.Asn150Thr)
c.127A>C
c.108+1054A>C
n.469A>C
6g.131851160A>GCA4001911ENPP1c.449A>G (p.Asn150Ser)
c.127A>G
c.108+1054A>G
n.469A>G
dbSNP ExAC gnomAD v2 gnomAD v4
6g.131851160A>TCA365661120ENPP1c.449A>T (p.Asn150Ile)
c.127A>T
c.108+1054A>T
n.469A>T
6g.131851161C>ACA365661121ENPP1c.450C>A (p.Asn150Lys)
c.128C>A
c.108+1055C>A
n.470C>A
dbSNP
6g.131851161C>GCA365661122ENPP1c.450C>G (p.Asn150Lys)
c.128C>G
c.108+1055C>G
n.470C>G
gnomAD v4
6g.131851161C>TCA452154540ENPP1c.450C>T (p.Asn150=)
c.128C>T
c.108+1055C>T
n.470C>T
6g.131851162A>CCA365661124ENPP1c.451A>C (p.Lys151Gln)
c.129A>C
c.108+1056A>C
n.471A>C
6g.131851162A>GCA365661127ENPP1c.451A>G (p.Lys151Glu)
c.129A>G
c.108+1056A>G
n.471A>G
6g.131851162A>TCA365661131ENPP1c.451A>T (p.Lys151Ter)
c.129A>T
c.108+1056A>T
n.471A>T
6g.131851163A>CCA365661137ENPP1c.452A>C (p.Lys151Thr)
c.130A>C
c.108+1057A>C
n.472A>C
6g.131851163A>GCA365661139ENPP1c.452A>G (p.Lys151Arg)
c.130A>G
c.108+1057A>G
n.472A>G
6g.131851163A>TCA365661140ENPP1c.452A>T (p.Lys151Ile)
c.130A>T
c.108+1057A>T
n.472A>T
6g.131851164A>CCA365661158ENPP1c.453A>C (p.Lys151Asn)
c.131A>C
c.108+1058A>C
n.473A>C
6g.131851164A>GCA452154541ENPP1c.453A>G (p.Lys151=)
c.131A>G
c.108+1058A>G
n.473A>G
6g.131851164A>TCA365661145ENPP1c.453A>T (p.Lys151Asn)
c.131A>T
c.108+1058A>T
n.473A>T
6g.131851165T>ACA365661168ENPP1c.454T>A (p.Phe152Ile)
c.132T>A
c.108+1059T>A
n.474T>A
6g.131851165T>CCA365661183ENPP1c.454T>C (p.Phe152Leu)
c.132T>C
c.108+1059T>C
n.474T>C
6g.131851165T>GCA365661192ENPP1c.454T>G (p.Phe152Val)
c.132T>G
c.108+1059T>G
n.474T>G
ClinVar gnomAD v4
6g.131851166T>ACA365661197ENPP1c.455T>A (p.Phe152Tyr)
c.133T>A
c.108+1060T>A
n.475T>A
6g.131851166T>CCA365661209ENPP1c.455T>C (p.Phe152Ser)
c.133T>C
c.108+1060T>C
n.475T>C
gnomAD v4
6g.131851166T>GCA365661211ENPP1c.455T>G (p.Phe152Cys)
c.133T>G
c.108+1060T>G
n.475T>G
6g.131851167C>ACA365661213ENPP1c.456C>A (p.Phe152Leu)
c.134C>A
c.108+1061C>A
n.476C>A
6g.131851167C>GCA365661215ENPP1c.456C>G (p.Phe152Leu)
c.134C>G
c.108+1061C>G
n.476C>G
6g.131851167C>TCA452154542ENPP1c.456C>T (p.Phe152=)
c.134C>T
c.108+1061C>T
n.476C>T
6g.131851168A>CCA452154543ENPP1c.457A>C (p.Arg153=)
c.135A>C
c.108+1062A>C
n.477A>C
6g.131851168A>GCA365661220ENPP1c.457A>G (p.Arg153Gly)
c.135A>G
c.108+1062A>G
n.477A>G
6g.131851168A>TCA365661229ENPP1c.457A>T (p.Arg153Trp)
c.135A>T
c.108+1062A>T
n.477A>T
6g.131851169G>ACA365661230ENPP1c.458G>A (p.Arg153Lys)
c.136G>A
c.108+1063G>A
n.478G>A
6g.131851169G>CCA365661231ENPP1c.458G>C (p.Arg153Thr)
c.136G>C
c.108+1063G>C
n.478G>C
6g.131851169G>TCA365661234ENPP1c.458G>T (p.Arg153Met)
c.136G>T
c.108+1063G>T
n.478G>T
6g.131851170G>ACA4001912ENPP1c.459G>A (p.Arg153=)
c.137G>A
c.108+1064G>A
n.479G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851170G>CCA365661240ENPP1c.459G>C (p.Arg153Ser)
c.137G>C
c.108+1064G>C
n.479G>C
gnomAD v4
6g.131851170G=CA1664253735ENPP1c.459G= (p.Arg153=)
c.137G=
c.108+1064G=
n.479G=
6g.131851170G>TCA365661239ENPP1c.459G>T (p.Arg153Ser)
c.137G>T
c.108+1064G>T
n.479G>T
dbSNP
6g.131851173_131851174delCA2680366337ENPP1c.462_463del (p.Cys154TrpfsTer2)
c.140_141del
c.108+1067_108+1068del
n.482_483del
gnomAD v4
6g.131851171T>ACA365661243ENPP1c.460T>A (p.Cys154Ser)
c.138T>A
c.108+1065T>A
n.480T>A
6g.131851171T>CCA365661251ENPP1c.460T>C (p.Cys154Arg)
c.138T>C
c.108+1065T>C
n.480T>C
gnomAD v4
6g.131851171T>GCA365661247ENPP1c.460T>G (p.Cys154Gly)
c.138T>G
c.108+1065T>G
n.480T>G
6g.131851172G>ACA365661259ENPP1c.461G>A (p.Cys154Tyr)
c.139G>A
c.108+1066G>A
n.481G>A
dbSNP gnomAD v4
6g.131851172G>CCA365661263ENPP1c.461G>C (p.Cys154Ser)
c.139G>C
c.108+1066G>C
n.481G>C
6g.131851172G=CA1664253736ENPP1c.461G= (p.Cys154=)
c.139G=
c.108+1066G=
n.481G=
6g.131851172G>TCA365661264ENPP1c.461G>T (p.Cys154Phe)
c.139G>T
c.108+1066G>T
n.481G>T
6g.131851173T>ACA365661266ENPP1c.462T>A (p.Cys154Ter)
c.140T>A
c.108+1067T>A
n.482T>A
6g.131851173T>CCA452154548ENPP1c.462T>C (p.Cys154=)
c.140T>C
c.108+1067T>C
n.482T>C
6g.131851173T>GCA365661268ENPP1c.462T>G (p.Cys154Trp)
c.140T>G
c.108+1067T>G
n.482T>G
6g.131851174G>ACA365661284ENPP1c.463G>A (p.Gly155Ser)
c.141G>A
c.108+1068G>A
n.483G>A
dbSNP gnomAD v3 gnomAD v4
6g.131851174G>CCA365661280ENPP1c.463G>C (p.Gly155Arg)
c.141G>C
c.108+1068G>C
n.483G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851174G=CA1664253737ENPP1c.463G= (p.Gly155=)
c.141G=
c.108+1068G=
n.483G=
6g.131851174G>TCA365661275ENPP1c.463G>T (p.Gly155Cys)
c.141G>T
c.108+1068G>T
n.483G>T
6g.131851175G>ACA365661290ENPP1c.464G>A (p.Gly155Asp)
c.142G>A
c.108+1069G>A
n.484G>A
6g.131851175G>CCA365661296ENPP1c.464G>C (p.Gly155Ala)
c.142G>C
c.108+1069G>C
n.484G>C
6g.131851175G>TCA365661301ENPP1c.464G>T (p.Gly155Val)
c.142G>T
c.108+1069G>T
n.484G>T
gnomAD v4
6g.131851176T>ACA452154553ENPP1c.465T>A (p.Gly155=)
c.143T>A
c.108+1070T>A
n.485T>A
6g.131851176T>CCA452154554ENPP1c.465T>C (p.Gly155=)
c.143T>C
c.108+1070T>C
n.485T>C
6g.131851176T>GCA452154555ENPP1c.465T>G (p.Gly155=)
c.143T>G
c.108+1070T>G
n.485T>G
6g.131851177G>ACA365661313ENPP1c.466G>A (p.Glu156Lys)
c.144G>A
c.108+1071G>A
n.486G>A
6g.131851177G>CCA365661318ENPP1c.466G>C (p.Glu156Gln)
c.144G>C
c.108+1071G>C
n.486G>C
6g.131851177G=CA1664253738ENPP1c.466G= (p.Glu156=)
c.144G=
c.108+1071G=
n.486G=
6g.131851177G>TCA365661320ENPP1c.466G>T (p.Glu156Ter)
c.144G>T
c.108+1071G>T
n.486G>T
dbSNP
6g.131851178A>CCA365661333ENPP1c.467A>C (p.Glu156Ala)
c.145A>C
c.108+1072A>C
n.487A>C
6g.131851178A>GCA365661321ENPP1c.467A>G (p.Glu156Gly)
c.145A>G
c.108+1072A>G
n.487A>G
6g.131851178A>TCA365661326ENPP1c.467A>T (p.Glu156Val)
c.145A>T
c.108+1072A>T
n.487A>T
6g.131851179G>ACA452154559ENPP1c.468G>A (p.Glu156=)
c.146G>A
c.108+1073G>A
n.488G>A
COSMIC
6g.131851179G>CCA365661338ENPP1c.468G>C (p.Glu156Asp)
c.146G>C
c.108+1073G>C
n.488G>C
6g.131851179G>TCA365661340ENPP1c.468G>T (p.Glu156Asp)
c.146G>T
c.108+1073G>T
n.488G>T
6g.131851180A>CCA365661347ENPP1c.469A>C (p.Lys157Gln)
c.147A>C
c.108+1074A>C
n.489A>C
6g.131851180A>GCA365661351ENPP1c.469A>G (p.Lys157Glu)
c.147A>G
c.108+1074A>G
n.489A>G
6g.131851180A>TCA365661355ENPP1c.469A>T (p.Lys157Ter)
c.147A>T
c.108+1074A>T
n.489A>T
6g.131851181A>CCA365661372ENPP1c.470A>C (p.Lys157Thr)
c.148A>C
c.108+1075A>C
n.490A>C
6g.131851181A>GCA365661383ENPP1c.470A>G (p.Lys157Arg)
c.148A>G
c.108+1075A>G
n.490A>G
6g.131851181A>TCA365661389ENPP1c.470A>T (p.Lys157Ile)
c.148A>T
c.108+1075A>T
n.490A>T
6g.131851182A>CCA365661390ENPP1c.471A>C (p.Lys157Asn)
c.149A>C
c.108+1076A>C
n.491A>C
6g.131851182A>GCA452154563ENPP1c.471A>G (p.Lys157=)
c.149A>G
c.108+1076A>G
n.491A>G
6g.131851182A>TCA365661391ENPP1c.471A>T (p.Lys157Asn)
c.149A>T
c.108+1076A>T
n.491A>T
6g.131851183A>CCA452154566ENPP1c.472A>C (p.Arg158=)
c.150A>C
c.108+1077A>C
n.492A>C
6g.131851183A>GCA365661394ENPP1c.472A>G (p.Arg158Gly)
c.150A>G
c.108+1077A>G
n.492A>G
6g.131851183A>TCA365661400ENPP1c.472A>T (p.Arg158Trp)
c.150A>T
c.108+1077A>T
n.492A>T
6g.131851184G>ACA365661401ENPP1c.473G>A (p.Arg158Lys)
c.151G>A
c.108+1078G>A
n.493G>A
6g.131851184G>CCA365661404ENPP1c.473G>C (p.Arg158Thr)
c.151G>C
c.108+1078G>C
n.493G>C
6g.131851184G>TCA365661402ENPP1c.473G>T (p.Arg158Met)
c.151G>T
c.108+1078G>T
n.493G>T
6g.131851185G>ACA452154571ENPP1c.474G>A (p.Arg158=)
c.152G>A
c.108+1079G>A
n.494G>A
6g.131851185G>CCA365661409ENPP1c.474G>C (p.Arg158Ser)
c.152G>C
c.108+1079G>C
n.494G>C
6g.131851185G>TCA365661410ENPP1c.474G>T (p.Arg158Ser)
c.152G>T
c.108+1079G>T
n.494G>T
6g.131851186T>ACA365661417ENPP1c.475T>A (p.Leu159Met)
c.153T>A
c.108+1080T>A
n.495T>A
6g.131851186T>CCA452154572ENPP1c.475T>C (p.Leu159=)
c.153T>C
c.108+1080T>C
n.495T>C
6g.131851186T>GCA365661423ENPP1c.475T>G (p.Leu159Val)
c.153T>G
c.108+1080T>G
n.495T>G
6g.131851187T>ACA365661455ENPP1c.476T>A (p.Leu159Ter)
c.154T>A
c.108+1081T>A
n.496T>A
6g.131851187T>CCA365661465ENPP1c.476T>C (p.Leu159Ser)
c.154T>C
c.108+1081T>C
n.496T>C
6g.131851187T>GCA365661470ENPP1c.476T>G (p.Leu159Trp)
c.154T>G
c.108+1081T>G
n.496T>G
6g.131851188G>ACA452154574ENPP1c.477G>A (p.Leu159=)
c.155G>A
c.108+1082G>A
n.497G>A
dbSNP gnomAD v4 COSMIC COSMIC
6g.131851188G>CCA365661476ENPP1c.477G>C (p.Leu159Phe)
c.155G>C
c.108+1082G>C
n.497G>C
6g.131851188G=CA1664253739ENPP1c.477G= (p.Leu159=)
c.155G=
c.108+1082G=
n.497G=
6g.131851188G>TCA365661478ENPP1c.477G>T (p.Leu159Phe)
c.155G>T
c.108+1082G>T
n.497G>T
6g.131851189A=CA1664253740ENPP1c.478A= (p.Thr160=)
c.156A=
c.108+1083A=
n.498A=
6g.131851189A>CCA365661481ENPP1c.478A>C (p.Thr160Pro)
c.156A>C
c.108+1083A>C
n.498A>C
6g.131851189A>GCA365661484ENPP1c.478A>G (p.Thr160Ala)
c.156A>G
c.108+1083A>G
n.498A>G
dbSNP gnomAD v4
6g.131851189A>TCA4001913ENPP1c.478A>T (p.Thr160Ser)
c.156A>T
c.108+1083A>T
n.498A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851190C>ACA365661492ENPP1c.479C>A (p.Thr160Asn)
c.157C>A
c.108+1084C>A
n.499C>A
gnomAD v4
6g.131851190C>GCA365661489ENPP1c.479C>G (p.Thr160Ser)
c.157C>G
c.108+1084C>G
n.499C>G
6g.131851190C>TCA365661490ENPP1c.479C>T (p.Thr160Ile)
c.157C>T
c.108+1084C>T
n.499C>T
gnomAD v4
6g.131851191C>ACA452154579ENPP1c.480C>A (p.Thr160=)
c.158C>A
c.108+1085C>A
n.500C>A
6g.131851191C=CA1664253741ENPP1c.480C= (p.Thr160=)
c.158C=
c.108+1085C=
n.500C=
6g.131851191C>GCA452154580ENPP1c.480C>G (p.Thr160=)
c.158C>G
c.108+1085C>G
n.500C>G
dbSNP gnomAD v2 gnomAD v4
6g.131851191C>TCA4001914ENPP1c.480C>T (p.Thr160=)
c.158C>T
c.108+1085C>T
n.500C>T
dbSNP ExAC gnomAD v2 gnomAD v4
6g.131851192A=CA1664253742ENPP1c.481A= (p.Arg161=)
c.159A=
c.108+1086A=
n.501A=
6g.131851192A>CCA452154582ENPP1c.481A>C (p.Arg161=)
c.159A>C
c.108+1086A>C
n.501A>C
6g.131851192A>GCA365661497ENPP1c.481A>G (p.Arg161Gly)
c.159A>G
c.108+1086A>G
n.501A>G
dbSNP gnomAD v3 gnomAD v4
6g.131851192A>TCA365661515ENPP1c.481A>T (p.Arg161Ter)
c.159A>T
c.108+1086A>T
n.501A>T
6g.131851193G>ACA365661519ENPP1c.482G>A (p.Arg161Lys)
c.160G>A
c.108+1087G>A
n.502G>A
gnomAD v4
6g.131851193G>CCA365661520ENPP1c.482G>C (p.Arg161Thr)
c.160G>C
c.108+1087G>C
n.502G>C
6g.131851193G>TCA365661523ENPP1c.482G>T (p.Arg161Ile)
c.160G>T
c.108+1087G>T
n.502G>T
6g.131851194A>CCA365661527ENPP1c.483A>C (p.Arg161Ser)
c.161A>C
c.108+1088A>C
n.503A>C
6g.131851194A>GCA452154586ENPP1c.483A>G (p.Arg161=)
c.161A>G
c.108+1088A>G
n.503A>G
6g.131851194A>TCA365661528ENPP1c.483A>T (p.Arg161Ser)
c.161A>T
c.108+1088A>T
n.503A>T
6g.131851195delCA2578742760ENPP1c.484del (p.Ser162AlafsTer30)
c.162del
c.108+1089del
n.504del
6g.131851195A=CA1664253743ENPP1c.484A= (p.Ser162=)
c.162A=
c.108+1089A=
n.504A=
6g.131851195A>CCA365661532ENPP1c.484A>C (p.Ser162Arg)
c.162A>C
c.108+1089A>C
n.504A>C
gnomAD v4
6g.131851195A>GCA365661546ENPP1c.484A>G (p.Ser162Gly)
c.162A>G
c.108+1089A>G
n.504A>G
ClinVar dbSNP gnomAD v4
6g.131851195A>TCA365661547ENPP1c.484A>T (p.Ser162Cys)
c.162A>T
c.108+1089A>T
n.504A>T
6g.131851196G>ACA365661564ENPP1c.485G>A (p.Ser162Asn)
c.163G>A
c.108+1090G>A
n.505G>A
6g.131851196G>CCA365661563ENPP1c.485G>C (p.Ser162Thr)
c.163G>C
c.108+1090G>C
n.505G>C
6g.131851196G>TCA365661562ENPP1c.485G>T (p.Ser162Ile)
c.163G>T
c.108+1090G>T
n.505G>T
6g.131851197C>ACA365661570ENPP1c.486C>A (p.Ser162Arg)
c.164C>A
c.108+1091C>A
n.506C>A
6g.131851197C>GCA365661566ENPP1c.486C>G (p.Ser162Arg)
c.164C>G
c.108+1091C>G
n.506C>G
6g.131851197C>TCA452154590ENPP1c.486C>T (p.Ser162=)
c.164C>T
c.108+1091C>T
n.506C>T
6g.131851198C>ACA365661579ENPP1c.487C>A (p.Leu163Ile)
c.165C>A
c.108+1092C>A
n.507C>A
6g.131851198C=CA1664253744ENPP1c.487C= (p.Leu163=)
c.165C=
c.108+1092C=
n.507C=
6g.131851198C>GCA147926287ENPP1c.487C>G (p.Leu163Val)
c.165C>G
c.108+1092C>G
n.507C>G
dbSNP gnomAD v2 gnomAD v4
6g.131851198C>TCA365661589ENPP1c.487C>T (p.Leu163Phe)
c.165C>T
c.108+1092C>T
n.507C>T
gnomAD v4
6g.131851199T>ACA365661590ENPP1c.488T>A (p.Leu163His)
c.166T>A
c.108+1093T>A
n.508T>A
6g.131851199T>CCA365661591ENPP1c.488T>C (p.Leu163Pro)
c.166T>C
c.108+1093T>C
n.508T>C
6g.131851199T>GCA365661592ENPP1c.488T>G (p.Leu163Arg)
c.166T>G
c.108+1093T>G
n.508T>G
6g.131851200C>ACA452154593ENPP1c.489C>A (p.Leu163=)
c.167C>A
c.108+1094C>A
n.509C>A
6g.131851200C>GCA452154595ENPP1c.489C>G (p.Leu163=)
c.167C>G
c.108+1094C>G
n.509C>G
6g.131851200C>TCA452154596ENPP1c.489C>T (p.Leu163=)
c.167C>T
c.108+1094C>T
n.509C>T
6g.131851201T>ACA365661596ENPP1c.490T>A (p.Cys164Ser)
c.168T>A
c.108+1095T>A
n.510T>A
6g.131851201T>CCA365661593ENPP1c.490T>C (p.Cys164Arg)
c.168T>C
c.108+1095T>C
n.510T>C
6g.131851201T>GCA365661594ENPP1c.490T>G (p.Cys164Gly)
c.168T>G
c.108+1095T>G
n.510T>G
6g.131851202G>ACA365661605ENPP1c.491G>A (p.Cys164Tyr)
c.169G>A
c.108+1096G>A
n.511G>A
ClinVar
6g.131851202G>CCA145331ENPP1c.491G>C (p.Cys164Ser)
c.169G>C
c.108+1096G>C
n.511G>C
ClinVar dbSNP
6g.131851202G=CA1664253745ENPP1c.491G= (p.Cys164=)
c.169G=
c.108+1096G=
n.511G=
6g.131851202G>TCA365661608ENPP1c.491G>T (p.Cys164Phe)
c.169G>T
c.108+1096G>T
n.511G>T
6g.131851203T>ACA365661614ENPP1c.492T>A (p.Cys164Ter)
c.170T>A
c.108+1097T>A
n.512T>A
6g.131851203T>CCA452154597ENPP1c.492T>C (p.Cys164=)
c.170T>C
c.108+1097T>C
n.512T>C
6g.131851203T>GCA365661616ENPP1c.492T>G (p.Cys164Trp)
c.170T>G
c.108+1097T>G
n.512T>G
6g.131851204G>ACA4001915ENPP1c.493G>A (p.Ala165Thr)
c.171G>A
c.108+1098G>A
n.513G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.131851204G>CCA365661623ENPP1c.493G>C (p.Ala165Pro)
c.171G>C
c.108+1098G>C
n.513G>C
6g.131851204G=CA1664253746ENPP1c.493G= (p.Ala165=)
c.171G=
c.108+1098G=
n.513G=
6g.131851204G>TCA365661618ENPP1c.493G>T (p.Ala165Ser)
c.171G>T
c.108+1098G>T
n.513G>T
gnomAD v4
6g.131851205C>ACA365661630ENPP1c.494C>A (p.Ala165Asp)
c.172C>A
c.108+1099C>A
n.514C>A
COSMIC
6g.131851205C>GCA365661641ENPP1c.494C>G (p.Ala165Gly)
c.172C>G
c.108+1099C>G
n.514C>G
6g.131851205C>TCA365661652ENPP1c.494C>T (p.Ala165Val)
c.172C>T
c.108+1099C>T
n.514C>T
ClinVar
6g.131851206C>ACA452154601ENPP1c.495C>A (p.Ala165=)
c.173C>A
c.108+1100C>A
n.515C>A
6g.131851206C=CA1664253747ENPP1c.495C= (p.Ala165=)
c.173C=
c.108+1100C=
n.515C=
6g.131851206C>GCA452154602ENPP1c.495C>G (p.Ala165=)
c.173C>G
c.108+1100C>G
n.515C>G
6g.131851206C>TCA4001916ENPP1c.495C>T (p.Ala165=)
c.173C>T
c.108+1100C>T
n.515C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851207T>ACA365661659ENPP1c.496T>A (p.Cys166Ser)
c.174T>A
c.108+1101T>A
n.516T>A
6g.131851207T>CCA365661675ENPP1c.496T>C (p.Cys166Arg)
c.174T>C
c.108+1101T>C
n.516T>C
6g.131851207T>GCA365661679ENPP1c.496T>G (p.Cys166Gly)
c.174T>G
c.108+1101T>G
n.516T>G
6g.131851208G>ACA365661680ENPP1c.497G>A (p.Cys166Tyr)
c.175G>A
c.108+1102G>A
n.517G>A
ClinVar
6g.131851208G>CCA365661681ENPP1c.497G>C (p.Cys166Ser)
c.175G>C
c.108+1102G>C
n.517G>C
6g.131851208G>TCA365661682ENPP1c.497G>T (p.Cys166Phe)
c.175G>T
c.108+1102G>T
n.517G>T
gnomAD v4
6g.131851209T>ACA365661689ENPP1c.498T>A (p.Cys166Ter)
c.176T>A
c.108+1103T>A
n.518T>A
6g.131851209T>CCA452154607ENPP1c.498T>C (p.Cys166=)
c.176T>C
c.108+1103T>C
n.518T>C
6g.131851209T>GCA365661705ENPP1c.498T>G (p.Cys166Trp)
c.176T>G
c.108+1103T>G
n.518T>G
6g.131851210T>ACA365661707ENPP1c.499T>A (p.Ser167Thr)
c.177T>A
c.108+1104T>A
n.519T>A
6g.131851210T>CCA365661715ENPP1c.499T>C (p.Ser167Pro)
c.177T>C
c.108+1104T>C
n.519T>C
6g.131851210T>GCA365661711ENPP1c.499T>G (p.Ser167Ala)
c.177T>G
c.108+1104T>G
n.519T>G
6g.131851210_131851211delinsTCCA1664253748ENPP1c.499_500delinsTC (p.Ser167=)
c.177_178delinsTC
c.108+1104_108+1105delinsTC
n.519_520delinsTC
6g.131851211delCA570097322ENPP1c.500del (p.Ser167Ter)
c.178del
c.108+1105del
n.520del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851211C>ACA365661721ENPP1c.500C>A (p.Ser167Ter)
c.178C>A
c.108+1105C>A
n.520C>A
6g.131851211C>GCA365661722ENPP1c.500C>G (p.Ser167Ter)
c.178C>G
c.108+1105C>G
n.520C>G
6g.131851211C>TCA365661728ENPP1c.500C>T (p.Ser167Leu)
c.178C>T
c.108+1105C>T
n.520C>T
6g.131851212A=CA1664253749ENPP1c.501A= (p.Ser167=)
c.179A=
c.108+1106A=
n.521A=
6g.131851212A>CCA452154611ENPP1c.501A>C (p.Ser167=)
c.179A>C
c.108+1106A>C
n.521A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851212A>GCA452154613ENPP1c.501A>G (p.Ser167=)
c.179A>G
c.108+1106A>G
n.521A>G
dbSNP gnomAD v4
6g.131851212A>TCA452154612ENPP1c.501A>T (p.Ser167=)
c.179A>T
c.108+1106A>T
n.521A>T
ClinVar gnomAD v4
6g.131851213G>ACA365661731ENPP1c.502G>A (p.Asp168Asn)
c.180G>A
c.108+1107G>A
n.522G>A
COSMIC COSMIC
6g.131851213G>CCA4001917ENPP1c.502G>C (p.Asp168His)
c.180G>C
c.108+1107G>C
n.522G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851213G=CA1664253750ENPP1c.502G= (p.Asp168=)
c.180G=
c.108+1107G=
n.522G=
6g.131851213G>TCA365661736ENPP1c.502G>T (p.Asp168Tyr)
c.180G>T
c.108+1107G>T
n.522G>T
6g.131851214A>CCA365661740ENPP1c.503A>C (p.Asp168Ala)
c.181A>C
c.108+1108A>C
n.523A>C
gnomAD v4
6g.131851214A>GCA365661750ENPP1c.503A>G (p.Asp168Gly)
c.181A>G
c.108+1108A>G
n.523A>G
6g.131851214A>TCA365661753ENPP1c.503A>T (p.Asp168Val)
c.181A>T
c.108+1108A>T
n.523A>T
6g.131851215T>ACA365661762ENPP1c.504T>A (p.Asp168Glu)
c.182T>A
c.108+1109T>A
n.524T>A
6g.131851215T>CCA452154616ENPP1c.504T>C (p.Asp168=)
c.182T>C
c.108+1109T>C
n.524T>C
6g.131851215T>GCA365661765ENPP1c.504T>G (p.Asp168Glu)
c.182T>G
c.108+1109T>G
n.524T>G
6g.131851216G>ACA365661799ENPP1c.505G>A (p.Asp169Asn)
c.183G>A
c.108+1110G>A
n.525G>A
6g.131851216G>CCA365661798ENPP1c.505G>C (p.Asp169His)
c.183G>C
c.108+1110G>C
n.525G>C
6g.131851216G>TCA365661790ENPP1c.505G>T (p.Asp169Tyr)
c.183G>T
c.108+1110G>T
n.525G>T
gnomAD v4 COSMIC COSMIC
6g.131851217A>CCA365661813ENPP1c.506A>C (p.Asp169Ala)
c.184A>C
c.108+1111A>C
n.526A>C
6g.131851217A>GCA365661819ENPP1c.506A>G (p.Asp169Gly)
c.184A>G
c.108+1111A>G
n.526A>G
6g.131851217A>TCA365661822ENPP1c.506A>T (p.Asp169Val)
c.184A>T
c.108+1111A>T
n.526A>T
6g.131851218C>ACA365661825ENPP1c.507C>A (p.Asp169Glu)
c.185C>A
c.108+1112C>A
n.527C>A
6g.131851218C=CA1664253751ENPP1c.507C= (p.Asp169=)
c.185C=
c.108+1112C=
n.527C=
6g.131851218C>GCA365661829ENPP1c.507C>G (p.Asp169Glu)
c.185C>G
c.108+1112C>G
n.527C>G
6g.131851218C>TCA452154619ENPP1c.507C>T (p.Asp169=)
c.185C>T
c.108+1112C>T
n.527C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851219T>ACA365661834ENPP1c.508T>A (p.Cys170Ser)
c.186T>A
c.108+1113T>A
n.528T>A
6g.131851219T>CCA365661838ENPP1c.508T>C (p.Cys170Arg)
c.186T>C
c.108+1113T>C
n.528T>C
gnomAD v4
6g.131851219T>GCA365661842ENPP1c.508T>G (p.Cys170Gly)
c.186T>G
c.108+1113T>G
n.528T>G
gnomAD v4
6g.131851220G>ACA365661845ENPP1c.509G>A (p.Cys170Tyr)
c.187G>A
c.108+1114G>A
n.529G>A
gnomAD v4
6g.131851220G>CCA365661849ENPP1c.509G>C (p.Cys170Ser)
c.187G>C
c.108+1114G>C
n.529G>C
6g.131851220G>TCA365661855ENPP1c.509G>T (p.Cys170Phe)
c.187G>T
c.108+1114G>T
n.529G>T
6g.131851221C>ACA365661864ENPP1c.510C>A (p.Cys170Ter)
c.188C>A
c.108+1115C>A
n.530C>A
gnomAD v4
6g.131851221C>GCA365661880ENPP1c.510C>G (p.Cys170Trp)
c.188C>G
c.108+1115C>G
n.530C>G
6g.131851221C>TCA452154622ENPP1c.510C>T (p.Cys170=)
c.188C>T
c.108+1115C>T
n.530C>T
6g.131851222A=CA1664253752ENPP1c.511A= (p.Lys171=)
c.189A=
c.108+1116A=
n.531A=
6g.131851222A>CCA147926329ENPP1c.511A>C (p.Lys171Gln)
c.189A>C
c.108+1116A>C
n.531A>C
dbSNP
6g.131851222A>GCA365661886ENPP1c.511A>G (p.Lys171Glu)
c.189A>G
c.108+1116A>G
n.531A>G
6g.131851222A>TCA365661884ENPP1c.511A>T (p.Lys171Ter)
c.189A>T
c.108+1116A>T
n.531A>T
ClinVar dbSNP
6g.131851223A>CCA365661889ENPP1c.512A>C (p.Lys171Thr)
c.190A>C
c.108+1117A>C
n.532A>C
6g.131851223A>GCA365661898ENPP1c.512A>G (p.Lys171Arg)
c.190A>G
c.108+1117A>G
n.532A>G
gnomAD v4
6g.131851223A>TCA365661892ENPP1c.512A>T (p.Lys171Met)
c.190A>T
c.108+1117A>T
n.532A>T
6g.131851224G>ACA452154628ENPP1c.513G>A (p.Lys171=)
c.191G>A
c.108+1118G>A
n.533G>A
6g.131851224G>CCA365661904ENPP1c.513G>C (p.Lys171Asn)
c.191G>C
c.108+1118G>C
n.533G>C
6g.131851224G>TCA365661909ENPP1c.513G>T (p.Lys171Asn)
c.191G>T
c.108+1118G>T
n.533G>T
6g.131851225G>ACA365661913ENPP1c.514G>A (p.Asp172Asn)
c.192G>A
c.108+1119G>A
n.534G>A
6g.131851225G>CCA365661914ENPP1c.514G>C (p.Asp172His)
c.192G>C
c.108+1119G>C
n.534G>C
6g.131851225G>TCA365661915ENPP1c.514G>T (p.Asp172Tyr)
c.192G>T
c.108+1119G>T
n.534G>T
6g.131851226A>CCA365661917ENPP1c.515A>C (p.Asp172Ala)
c.193A>C
c.108+1120A>C
n.535A>C
6g.131851226A>GCA365661919ENPP1c.515A>G (p.Asp172Gly)
c.193A>G
c.108+1120A>G
n.535A>G
gnomAD v4
6g.131851226A>TCA365661925ENPP1c.515A>T (p.Asp172Val)
c.193A>T
c.108+1120A>T
n.535A>T
6g.131851227C>ACA365661937ENPP1c.516C>A (p.Asp172Glu)
c.194C>A
c.108+1121C>A
n.536C>A
6g.131851227C>GCA365661939ENPP1c.516C>G (p.Asp172Glu)
c.194C>G
c.108+1121C>G
n.536C>G
6g.131851227C>TCA452154630ENPP1c.516C>T (p.Asp172=)
c.194C>T
c.108+1121C>T
n.536C>T
6g.131851227_131851228delinsGCCA2739266144ENPP1c.516_517delinsGC (p.Asp172_Lys173delinsGluGln)
c.194_195delinsGC
c.108+1121_108+1122delinsGC
n.536_537delinsGC
ClinVar
6g.131851228A=CA1630834537ENPP1c.517A= (p.Lys173=)
c.195A=
c.108+1122A=
n.537A=
6g.131851228A>CCA123287ENPP1c.517A>C (p.Lys173Gln)
c.195A>C
c.108+1122A>C
n.537A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851228A>GCA365661974ENPP1c.517A>G (p.Lys173Glu)
c.195A>G
c.108+1122A>G
n.537A>G
dbSNP gnomAD v3 gnomAD v4
6g.131851228A>TCA365661985ENPP1c.517A>T (p.Lys173Ter)
c.195A>T
c.108+1122A>T
n.537A>T
6g.131851229A=CA1664253753ENPP1c.518A= (p.Lys173=)
c.196A=
c.108+1123A=
n.538A=
6g.131851229A>CCA365662018ENPP1c.518A>C (p.Lys173Thr)
c.196A>C
c.108+1123A>C
n.538A>C
6g.131851229A>GCA365662013ENPP1c.518A>G (p.Lys173Arg)
c.196A>G
c.108+1123A>G
n.538A>G
dbSNP gnomAD v2 gnomAD v4
6g.131851229A>TCA365662000ENPP1c.518A>T (p.Lys173Met)
c.196A>T
c.108+1123A>T
n.538A>T
6g.131851230G>ACA452154635ENPP1c.519G>A (p.Lys173=)
c.197G>A
c.108+1124G>A
n.539G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851230G>CCA365662023ENPP1c.519G>C (p.Lys173Asn)
c.197G>C
c.108+1124G>C
n.539G>C
6g.131851230G=CA1664253754ENPP1c.519G= (p.Lys173=)
c.197G=
c.108+1124G=
n.539G=
6g.131851230G>TCA365662025ENPP1c.519G>T (p.Lys173Asn)
c.197G>T
c.108+1124G>T
n.539G>T
6g.131851231G>ACA365662028ENPP1c.520G>A (p.Gly174Ser)
c.198G>A
c.108+1125G>A
n.540G>A
dbSNP gnomAD v3 gnomAD v4
6g.131851231G>CCA365662031ENPP1c.520G>C (p.Gly174Arg)
c.198G>C
c.108+1125G>C
n.540G>C
6g.131851231G=CA1664253755ENPP1c.520G= (p.Gly174=)
c.198G=
c.108+1125G=
n.540G=
6g.131851231G>TCA365662037ENPP1c.520G>T (p.Gly174Cys)
c.198G>T
c.108+1125G>T
n.540G>T
6g.131851232G>ACA365662043ENPP1c.521G>A (p.Gly174Asp)
c.199G>A
c.108+1126G>A
n.541G>A
6g.131851232G>CCA365662048ENPP1c.521G>C (p.Gly174Ala)
c.199G>C
c.108+1126G>C
n.541G>C
6g.131851232G>TCA365662051ENPP1c.521G>T (p.Gly174Val)
c.199G>T
c.108+1126G>T
n.541G>T
6g.131851233C>ACA452154637ENPP1c.522C>A (p.Gly174=)
c.200C>A
c.108+1127C>A
n.542C>A
6g.131851233C=CA1664253756ENPP1c.522C= (p.Gly174=)
c.200C=
c.108+1127C=
n.542C=
6g.131851233C>GCA4001919ENPP1c.522C>G (p.Gly174=)
c.200C>G
c.108+1127C>G
n.542C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851233C>TCA4001918ENPP1c.522C>T (p.Gly174=)
c.200C>T
c.108+1127C>T
n.542C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851234delCA2773093457ENPP1c.523del (p.Asp175ThrfsTer17)
c.201del
c.108+1128del
n.543del
6g.131851234G>ACA4001920ENPP1c.523G>A (p.Asp175Asn)
c.201G>A
c.108+1128G>A
n.543G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851234G>CCA365662069ENPP1c.523G>C (p.Asp175His)
c.201G>C
c.108+1128G>C
n.543G>C
6g.131851234G=CA1664253757ENPP1c.523G= (p.Asp175=)
c.201G=
c.108+1128G=
n.543G=
6g.131851234G>TCA365662073ENPP1c.523G>T (p.Asp175Tyr)
c.201G>T
c.108+1128G>T
n.543G>T
gnomAD v4

Number of alleles fetched