Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
6g.131851235A>CCA365662102ENPP1c.524A>C (p.Asp175Ala)
c.202A>C
c.108+1129A>C
n.544A>C
6g.131851235A>GCA365662106ENPP1c.524A>G (p.Asp175Gly)
c.202A>G
c.108+1129A>G
n.544A>G
6g.131851235A>TCA365662098ENPP1c.524A>T (p.Asp175Val)
c.202A>T
c.108+1129A>T
n.544A>T
6g.131851236C>ACA365662109ENPP1c.525C>A (p.Asp175Glu)
c.203C>A
c.108+1130C>A
n.545C>A
6g.131851236C=CA1664253758ENPP1c.525C= (p.Asp175=)
c.203C=
c.108+1130C=
n.545C=
6g.131851236C>GCA365662110ENPP1c.525C>G (p.Asp175Glu)
c.203C>G
c.108+1130C>G
n.545C>G
6g.131851236C>TCA4001921ENPP1c.525C>T (p.Asp175=)
c.203C>T
c.108+1130C>T
n.545C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851237T>ACA365662112ENPP1c.526T>A (p.Cys176Ser)
c.204T>A
c.108+1131T>A
n.546T>A
6g.131851237T>CCA365662115ENPP1c.526T>C (p.Cys176Arg)
c.204T>C
c.108+1131T>C
n.546T>C
6g.131851237T>GCA365662118ENPP1c.526T>G (p.Cys176Gly)
c.204T>G
c.108+1131T>G
n.546T>G
6g.131851238G>ACA365662123ENPP1c.527G>A (p.Cys176Tyr)
c.205G>A
c.108+1132G>A
n.547G>A
 gnomAD v4
6g.131851238G>CCA365662129ENPP1c.527G>C (p.Cys176Ser)
c.205G>C
c.108+1132G>C
n.547G>C
6g.131851238G>TCA365662131ENPP1c.527G>T (p.Cys176Phe)
c.205G>T
c.108+1132G>T
n.547G>T
6g.131851239C>ACA365662136ENPP1c.528C>A (p.Cys176Ter)
c.206C>A
c.108+1133C>A
n.548C>A
6g.131851239C>GCA365662141ENPP1c.528C>G (p.Cys176Trp)
c.206C>G
c.108+1133C>G
n.548C>G
6g.131851239C>TCA452154646ENPP1c.528C>T (p.Cys176=)
c.206C>T
c.108+1133C>T
n.548C>T
 COSMIC COSMIC
6g.131851240T>ACA365662154ENPP1c.529T>A (p.Cys177Ser)
c.207T>A
c.108+1134T>A
n.549T>A
6g.131851240T>CCA365662149ENPP1c.529T>C (p.Cys177Arg)
c.207T>C
c.108+1134T>C
n.549T>C
6g.131851240T>GCA365662146ENPP1c.529T>G (p.Cys177Gly)
c.207T>G
c.108+1134T>G
n.549T>G
6g.131851241G>ACA145330ENPP1c.530G>A (p.Cys177Tyr)
c.208G>A
c.108+1135G>A
n.550G>A
 ClinVar dbSNP
6g.131851241G>CCA365662183ENPP1c.530G>C (p.Cys177Ser)
c.208G>C
c.108+1135G>C
n.550G>C
6g.131851241G=CA1664253759ENPP1c.530G= (p.Cys177=)
c.208G=
c.108+1135G=
n.550G=
6g.131851241G>TCA365662186ENPP1c.530G>T (p.Cys177Phe)
c.208G>T
c.108+1135G>T
n.550G>T
6g.131851242C>ACA365662194ENPP1c.531C>A (p.Cys177Ter)
c.209C>A
c.108+1136C>A
n.551C>A
6g.131851242C=CA1664253760ENPP1c.531C= (p.Cys177=)
c.209C=
c.108+1136C=
n.551C=
6g.131851242C>GCA365662201ENPP1c.531C>G (p.Cys177Trp)
c.209C>G
c.108+1136C>G
n.551C>G
 gnomAD v4
6g.131851242C>TCA4001922ENPP1c.531C>T (p.Cys177=)
c.209C>T
c.108+1136C>T
n.551C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851243A=CA1664253761ENPP1c.532A= (p.Ile178=)
c.210A=
c.108+1137A=
n.552A=
6g.131851243A>CCA365662210ENPP1c.532A>C (p.Ile178Leu)
c.210A>C
c.108+1137A>C
n.552A>C
6g.131851243A>GCA147926407ENPP1c.532A>G (p.Ile178Val)
c.210A>G
c.108+1137A>G
n.552A>G
 dbSNP gnomAD v4
6g.131851243A>TCA365662224ENPP1c.532A>T (p.Ile178Phe)
c.210A>T
c.108+1137A>T
n.552A>T
6g.131851244T>ACA365662231ENPP1c.533T>A (p.Ile178Asn)
c.211T>A
c.108+1138T>A
n.553T>A
6g.131851244T>CCA365662232ENPP1c.533T>C (p.Ile178Thr)
c.211T>C
c.108+1138T>C
n.553T>C
6g.131851244T>GCA365662236ENPP1c.533T>G (p.Ile178Ser)
c.211T>G
c.108+1138T>G
n.553T>G
6g.131851245C>ACA452154654ENPP1c.534C>A (p.Ile178=)
c.212C>A
c.108+1139C>A
n.554C>A
 dbSNP gnomAD v3 gnomAD v4
6g.131851245C>GCA365662241ENPP1c.534C>G (p.Ile178Met)
c.212C>G
c.108+1139C>G
n.554C>G
6g.131851245C>TCA452154655ENPP1c.534C>T (p.Ile178=)
c.212C>T
c.108+1139C>T
n.554C>T
 gnomAD v4
6g.131851246A>CCA365662260ENPP1c.535A>C (p.Asn179His)
c.213A>C
c.108+1140A>C
n.555A>C
6g.131851246A>GCA365662253ENPP1c.535A>G (p.Asn179Asp)
c.213A>G
c.108+1140A>G
n.555A>G
 gnomAD v4
6g.131851246A>TCA365662256ENPP1c.535A>T (p.Asn179Tyr)
c.213A>T
c.108+1140A>T
n.555A>T
6g.131851247A=CA1664253762ENPP1c.536A= (p.Asn179=)
c.214A=
c.108+1141A=
n.556A=
6g.131851247A>CCA365662261ENPP1c.536A>C (p.Asn179Thr)
c.214A>C
c.108+1141A>C
n.556A>C
 gnomAD v4
6g.131851247A>GCA4001923ENPP1c.536A>G (p.Asn179Ser)
c.214A>G
c.108+1141A>G
n.556A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851247A>TCA365662262ENPP1c.536A>T (p.Asn179Ile)
c.214A>T
c.108+1141A>T
n.556A>T
6g.131851248C>ACA365662263ENPP1c.537C>A (p.Asn179Lys)
c.215C>A
c.108+1142C>A
n.557C>A
6g.131851248C>GCA365662264ENPP1c.537C>G (p.Asn179Lys)
c.215C>G
c.108+1142C>G
n.557C>G
6g.131851248C>TCA452154660ENPP1c.537C>T (p.Asn179=)
c.215C>T
c.108+1142C>T
n.557C>T
6g.131851249T>ACA365662275ENPP1c.538T>A (p.Tyr180Asn)
c.216T>A
c.108+1143T>A
n.558T>A
6g.131851249T>CCA365662270ENPP1c.538T>C (p.Tyr180His)
c.216T>C
c.108+1143T>C
n.558T>C
6g.131851249T>GCA365662273ENPP1c.538T>G (p.Tyr180Asp)
c.216T>G
c.108+1143T>G
n.558T>G
6g.131851250A>CCA365662277ENPP1c.539A>C (p.Tyr180Ser)
c.217A>C
c.108+1144A>C
n.559A>C
6g.131851250A>GCA365662278ENPP1c.539A>G (p.Tyr180Cys)
c.217A>G
c.108+1144A>G
n.559A>G
6g.131851250A>TCA365662279ENPP1c.539A>T (p.Tyr180Phe)
c.217A>T
c.108+1144A>T
n.559A>T
6g.131851251C>ACA365662281ENPP1c.540C>A (p.Tyr180Ter)
c.218C>A
c.108+1145C>A
n.560C>A
6g.131851251C=CA1664253763ENPP1c.540C= (p.Tyr180=)
c.218C=
c.108+1145C=
n.560C=
6g.131851251C>GCA365662284ENPP1c.540C>G (p.Tyr180Ter)
c.218C>G
c.108+1145C>G
n.560C>G
6g.131851251C>TCA452154664ENPP1c.540C>T (p.Tyr180=)
c.218C>T
c.108+1145C>T
n.560C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851252A>CCA365662291ENPP1c.541A>C (p.Ser181Arg)
c.219A>C
c.108+1146A>C
n.561A>C
6g.131851252A>GCA365662308ENPP1c.541A>G (p.Ser181Gly)
c.219A>G
c.108+1146A>G
n.561A>G
6g.131851252A>TCA365662297ENPP1c.541A>T (p.Ser181Cys)
c.219A>T
c.108+1146A>T
n.561A>T
6g.131851253G>ACA365662312ENPP1c.542G>A (p.Ser181Asn)
c.220G>A
c.108+1147G>A
n.562G>A
6g.131851253G>CCA365662314ENPP1c.542G>C (p.Ser181Thr)
c.220G>C
c.108+1147G>C
n.562G>C
6g.131851253G>TCA365662317ENPP1c.542G>T (p.Ser181Ile)
c.220G>T
c.108+1147G>T
n.562G>T
6g.131851254T>ACA365662326ENPP1c.543T>A (p.Ser181Arg)
c.221T>A
c.108+1148T>A
n.563T>A
6g.131851254T>CCA452154668ENPP1c.543T>C (p.Ser181=)
c.221T>C
c.108+1148T>C
n.563T>C
 gnomAD v4 COSMIC
6g.131851254T>GCA365662328ENPP1c.543T>G (p.Ser181Arg)
c.221T>G
c.108+1148T>G
n.563T>G
6g.131851255T>ACA365662329ENPP1c.544T>A (p.Ser182Thr)
c.222T>A
c.108+1149T>A
n.564T>A
6g.131851255T>CCA365662330ENPP1c.544T>C (p.Ser182Pro)
c.222T>C
c.108+1149T>C
n.564T>C
 dbSNP gnomAD v3 gnomAD v4
6g.131851255T>GCA365662332ENPP1c.544T>G (p.Ser182Ala)
c.222T>G
c.108+1149T>G
n.564T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.131851255T=CA1664253764ENPP1c.544T= (p.Ser182=)
c.222T=
c.108+1149T=
n.564T=
6g.131851256C>ACA365662340ENPP1c.545C>A (p.Ser182Tyr)
c.223C>A
c.108+1150C>A
n.565C>A
6g.131851256C=CA1664253765ENPP1c.545C= (p.Ser182=)
c.223C=
c.108+1150C=
n.565C=
6g.131851256C>GCA365662341ENPP1c.545C>G (p.Ser182Cys)
c.223C>G
c.108+1150C>G
n.565C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851256C>TCA365662344ENPP1c.545C>T (p.Ser182Phe)
c.223C>T
c.108+1150C>T
n.565C>T
 gnomAD v4
6g.131851257T>ACA452154670ENPP1c.546T>A (p.Ser182=)
c.224T>A
c.108+1151T>A
n.566T>A
6g.131851257T>CCA4001924ENPP1c.546T>C (p.Ser182=)
c.224T>C
c.108+1151T>C
n.566T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851257T>GCA452154673ENPP1c.546T>G (p.Ser182=)
c.224T>G
c.108+1151T>G
n.566T>G
6g.131851257T=CA1664253766ENPP1c.546T= (p.Ser182=)
c.224T=
c.108+1151T=
n.566T=
6g.131851258G>ACA365662350ENPP1c.547G>A (p.Val183Met)
c.225G>A
c.108+1152G>A
n.567G>A
 gnomAD v4
6g.131851258G>CCA365662355ENPP1c.547G>C (p.Val183Leu)
c.225G>C
c.108+1152G>C
n.567G>C
6g.131851258G>TCA365662353ENPP1c.547G>T (p.Val183Leu)
c.225G>T
c.108+1152G>T
n.567G>T
6g.131851259T>ACA365662359ENPP1c.548T>A (p.Val183Glu)
c.226T>A
c.108+1153T>A
n.568T>A
6g.131851259T>CCA365662363ENPP1c.548T>C (p.Val183Ala)
c.226T>C
c.108+1153T>C
n.568T>C
6g.131851259T>GCA365662366ENPP1c.548T>G (p.Val183Gly)
c.226T>G
c.108+1153T>G
n.568T>G
6g.131851260G>ACA452154678ENPP1c.549G>A (p.Val183=)
c.227G>A
c.108+1154G>A
n.569G>A
6g.131851260G>CCA452154679ENPP1c.549G>C (p.Val183=)
c.227G>C
c.108+1154G>C
n.569G>C
6g.131851260G>TCA452154680ENPP1c.549G>T (p.Val183=)
c.227G>T
c.108+1154G>T
n.569G>T
6g.131851261T>ACA365662371ENPP1c.550T>A (p.Cys184Ser)
c.228T>A
c.108+1155T>A
n.570T>A
6g.131851261T>CCA365662373ENPP1c.550T>C (p.Cys184Arg)
c.228T>C
c.108+1155T>C
n.570T>C
6g.131851261T>GCA365662375ENPP1c.550T>G (p.Cys184Gly)
c.228T>G
c.108+1155T>G
n.570T>G
6g.131851261T=CA1664253767ENPP1c.550T= (p.Cys184=)
c.228T=
c.108+1155T=
n.570T=
6g.131851262G>ACA365662379ENPP1c.551G>A (p.Cys184Tyr)
c.229G>A
c.108+1156G>A
n.571G>A
 dbSNP gnomAD v2
6g.131851262G>CCA365662382ENPP1c.551G>C (p.Cys184Ser)
c.229G>C
c.108+1156G>C
n.571G>C
6g.131851262G=CA1664253768ENPP1c.551G= (p.Cys184=)
c.229G=
c.108+1156G=
n.571G=
6g.131851262G>TCA365662385ENPP1c.551G>T (p.Cys184Phe)
c.229G>T
c.108+1156G>T
n.571G>T
 COSMIC
6g.131851262dupCA4001925ENPP1c.551dup (p.Cys184TrpfsTer4)
c.229dup
c.108+1156dup
n.571dup
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.131851263T>ACA365662386ENPP1c.552T>A (p.Cys184Ter)
c.230T>A
c.108+1157T>A
n.572T>A
6g.131851263T>CCA452154685ENPP1c.552T>C (p.Cys184=)
c.230T>C
c.108+1157T>C
n.572T>C
 dbSNP gnomAD v3 gnomAD v4
6g.131851263T>GCA365662387ENPP1c.552T>G (p.Cys184Trp)
c.230T>G
c.108+1157T>G
n.572T>G
6g.131851263T=CA1664253769ENPP1c.552T= (p.Cys184=)
c.230T=
c.108+1157T=
n.572T=
6g.131851264C>ACA365662396ENPP1c.553C>A (p.Gln185Lys)
c.231C>A
c.108+1158C>A
n.573C>A
6g.131851264C=CA1664253770ENPP1c.553C= (p.Gln185=)
c.231C=
c.108+1158C=
n.573C=
6g.131851264C>GCA365662388ENPP1c.553C>G (p.Gln185Glu)
c.231C>G
c.108+1158C>G
n.573C>G
 dbSNP
6g.131851264C>TCA365662392ENPP1c.553C>T (p.Gln185Ter)
c.231C>T
c.108+1158C>T
n.573C>T
 dbSNP
6g.131851265A>CCA365662397ENPP1c.554A>C (p.Gln185Pro)
c.232A>C
c.108+1159A>C
n.574A>C
 gnomAD v4
6g.131851265A>GCA365662398ENPP1c.554A>G (p.Gln185Arg)
c.232A>G
c.108+1159A>G
n.574A>G
6g.131851265A>TCA365662399ENPP1c.554A>T (p.Gln185Leu)
c.232A>T
c.108+1159A>T
n.574A>T
6g.131851266A=CA1664253771ENPP1c.555A= (p.Gln185=)
c.233A=
c.108+1160A=
n.575A=
6g.131851266A>CCA365662401ENPP1c.555A>C (p.Gln185His)
c.233A>C
c.108+1160A>C
n.575A>C
6g.131851266A>GCA4001926ENPP1c.555A>G (p.Gln185=)
c.233A>G
c.108+1160A>G
n.575A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131851266A>TCA365662408ENPP1c.555A>T (p.Gln185His)
c.233A>T
c.108+1160A>T
n.575A>T
6g.131851266_131851267insATTCAACACA2531279804ENPP1c.555_556insATTCAACA (p.Gly186IlefsTer9)
c.233_234insATTCAACA
c.108+1160_108+1161insATTCAACA
n.575_576insATTCAACA
6g.131851267G>ACA365662411ENPP1c.556G>A (p.Gly186Ser)
c.234G>A
c.108+1161G>A
n.576G>A
 COSMIC COSMIC
6g.131851267G>CCA365662413ENPP1c.556G>C (p.Gly186Arg)
c.234G>C
c.108+1161G>C
n.576G>C
 ClinVar dbSNP gnomAD v4
6g.131851267G=CA1664253772ENPP1c.556G= (p.Gly186=)
c.234G=
c.108+1161G=
n.576G=
6g.131851267G>TCA365662416ENPP1c.556G>T (p.Gly186Cys)
c.234G>T
c.108+1161G>T
n.576G>T
6g.131851268G>ACA365662423ENPP1c.556+1G>A (n.556+1G>A)
c.234+1G>A
c.108+1162G>A
n.577G>A
6g.131851268G>CCA365662426ENPP1c.556+1G>C (n.556+1G>C)
c.234+1G>C
c.108+1162G>C
n.577G>C
6g.131851268G>TCA365662429ENPP1c.556+1G>T (n.556+1G>T)
c.234+1G>T
c.108+1162G>T
n.577G>T
6g.131851269T>ACA365662439ENPP1c.556+2T>A (n.556+2T>A)
c.234+2T>A
c.108+1163T>A
n.578T>A
6g.131851269T>CCA365662442ENPP1c.556+2T>C (n.556+2T>C)
c.234+2T>C
c.108+1163T>C
n.578T>C
 gnomAD v4
6g.131851269T>GCA365662433ENPP1c.556+2T>G (n.556+2T>G)
c.234+2T>G
c.108+1163T>G
n.578T>G
 ClinVar gnomAD v4
6g.131851270C=CA1664253773ENPP1c.556+3C= (n.556+3C=)
c.234+3C=
c.108+1164C=
n.579C=
6g.131851270C>GCA1664253774ENPP1c.556+3C>G (n.556+3C>G)
c.234+3C>G
c.108+1164C>G
n.579C>G
 dbSNP
6g.131851270C>TCA570097329ENPP1c.556+3C>T (n.556+3C>T)
c.234+3C>T
c.108+1164C>T
n.579C>T
 dbSNP gnomAD v2 gnomAD v4
6g.131851271A>GCA2680366338ENPP1c.556+4A>G (n.556+4A>G)
c.234+4A>G
c.108+1165A>G
n.580A>G
 gnomAD v4
6g.131851272G>CCA147926433ENPP1c.556+5G>C (n.556+5G>C)
c.234+5G>C
c.108+1166G>C
n.581G>C
 dbSNP
6g.131851272G=CA1664253775ENPP1c.556+5G= (n.556+5G=)
c.234+5G=
c.108+1166G=
n.581G=
6g.131851273G>CCA147926435ENPP1c.556+6G>C (n.556+6G>C)
c.234+6G>C
c.108+1167G>C
n.582G>C
 dbSNP gnomAD v3 gnomAD v4
6g.131851273G=CA1664253776ENPP1c.556+6G= (n.556+6G=)
c.234+6G=
c.108+1167G=
n.582G=
6g.131851274T>ACA147926436ENPP1c.556+7T>A (n.556+7T>A)
c.234+7T>A
c.108+1168T>A
n.583T>A
 dbSNP gnomAD v3 gnomAD v4
6g.131851274T>CCA1094555077ENPP1c.556+7T>C (n.556+7T>C)
c.234+7T>C
c.108+1168T>C
n.583T>C
 dbSNP gnomAD v3 gnomAD v4
6g.131851274T=CA1664253777ENPP1c.556+7T= (n.556+7T=)
c.234+7T=
c.108+1168T=
n.583T=
6g.131851275G>ACA570097330ENPP1c.556+8G>A (n.556+8G>A)
c.234+8G>A
c.108+1169G>A
n.584G>A
 dbSNP gnomAD v2 gnomAD v4
6g.131851275G>CCA4001927ENPP1c.556+8G>C (n.556+8G>C)
c.234+8G>C
c.108+1169G>C
n.584G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.131851275G=CA1664253778ENPP1c.556+8G= (n.556+8G=)
c.234+8G=
c.108+1169G=
n.584G=
6g.131851275G>TCA4001928ENPP1c.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
6g.131851276C>TCA2680366339ENPP1c.556+9C>T (n.556+9C>T)
c.234+9C>T
c.108+1170C>T
n.585C>T
 gnomAD v4
6g.131851277T>CCA570097331ENPP1c.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
6g.131851277T=CA1664253779ENPP1c.556+10T= (n.556+10T=)
c.234+10T=
c.108+1171T=
n.586T=
6g.131851278C>ACA2680366340ENPP1c.556+11C>A (n.556+11C>A)
c.234+11C>A
c.108+1172C>A
n.587C>A
 gnomAD v4
6g.131851278C=CA1664253780ENPP1c.556+11C= (n.556+11C=)
c.234+11C=
c.108+1172C=
n.587C=
6g.131851278C>TCA4001929ENPP1c.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
6g.131851279G>ACA4001930ENPP1c.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
6g.131851279G=CA1664253781ENPP1c.556+12G= (n.556+12G=)
c.234+12G=
c.108+1173G=
n.588G=
6g.131851279G>TCA2680366341ENPP1c.556+12G>T (n.556+12G>T)
c.234+12G>T
c.108+1173G>T
n.588G>T
 gnomAD v4
6g.131851280T>CCA4001931ENPP1c.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
6g.131851280T=CA1664253782ENPP1c.556+13T= (n.556+13T=)
c.234+13T=
c.108+1174T=
n.589T=
6g.131851283G>ACA2773093465ENPP1c.556+16G>A (n.556+16G>A)
c.234+16G>A
c.108+1177G>A
n.592G>A
6g.131851283G>CCA2680366342ENPP1c.556+16G>C (n.556+16G>C)
c.234+16G>C
c.108+1177G>C
n.592G>C
 gnomAD v4
6g.131851284G=CA1664253783ENPP1c.556+17G= (n.556+17G=)
c.234+17G=
c.108+1178G=
n.593G=
6g.131851284G>TCA4001932ENPP1c.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
6g.131851285C=CA1664253784ENPP1c.556+18C= (n.556+18C=)
c.234+18C=
c.108+1179C=
n.594C=
6g.131851285C>GCA4001933ENPP1c.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
6g.131851285C>TCA147926538ENPP1c.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
6g.131851286T>CCA4001934ENPP1c.556+19T>C (n.556+19T>C)
c.234+19T>C
c.108+1180T>C
n.595T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.131851286T=CA1664253785ENPP1c.556+19T= (n.556+19T=)
c.234+19T=
c.108+1180T=
n.595T=
6g.131851287C>ACA4001935ENPP1c.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
6g.131851287C=CA1664253786ENPP1c.556+20C= (n.556+20C=)
c.234+20C=
c.108+1181C=
n.596C=
6g.131851288T>CCA4001936ENPP1c.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
6g.131851288T=CA1664253787ENPP1c.556+21T= (n.556+21T=)
c.234+21T=
c.108+1182T=
n.597T=
6g.131851289G>ACA4001937ENPP1c.556+22G>A (n.556+22G>A)
c.234+22G>A
c.108+1183G>A
n.598G>A
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.131851289G=CA1664253788ENPP1c.556+22G= (n.556+22G=)
c.234+22G=
c.108+1183G=
n.598G=
6g.131851294_131851296delCA2680366343ENPP1c.556+27_556+29del (n.556+27_556+29del)
c.234+27_234+29del
c.108+1188_108+1190del
n.603_605del
 gnomAD v4
6g.131851290C>TCA2680366344ENPP1c.556+23C>T (n.556+23C>T)
c.234+23C>T
c.108+1184C>T
n.599C>T
 dbSNP gnomAD v4
6g.131851291A=CA1664253789ENPP1c.556+24A= (n.556+24A=)
c.234+24A=
c.108+1185A=
n.600A=
6g.131851291A>GCA4001938ENPP1c.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
6g.131851292G>ACA4001939ENPP1c.556+25G>A (n.556+25G>A)
c.234+25G>A
c.108+1186G>A
n.601G>A
 dbSNP ExAC gnomAD v2
6g.131851292G=CA1664253790ENPP1c.556+25G= (n.556+25G=)
c.234+25G=
c.108+1186G=
n.601G=
6g.131851293C>TCA2680366345ENPP1c.556+26C>T (n.556+26C>T)
c.234+26C>T
c.108+1187C>T
n.602C>T
 gnomAD v4
6g.131851295G=CA1664253791ENPP1c.556+28G= (n.556+28G=)
c.234+28G=
c.108+1189G=
n.604G=
6g.131851295G>TCA1664253792ENPP1c.556+28G>T (n.556+28G>T)
c.234+28G>T
c.108+1189G>T
n.604G>T
 dbSNP gnomAD v4
6g.131851296C>GCA2773093470ENPP1c.556+29C>G (n.556+29C>G)
c.234+29C>G
c.108+1190C>G
n.605C>G
6g.131851296C>TCA2773093471ENPP1c.556+29C>T (n.556+29C>T)
c.234+29C>T
c.108+1190C>T
n.605C>T
6g.131851297C=CA1664253793ENPP1c.556+30C= (n.556+30C=)
c.234+30C=
c.108+1191C=
n.606C=
6g.131851297C>GCA1664253794ENPP1c.556+30C>G (n.556+30C>G)
c.234+30C>G
c.108+1191C>G
n.606C>G
 dbSNP gnomAD v4
6g.131851297C>TCA4001940ENPP1c.556+30C>T (n.556+30C>T)
c.234+30C>T
c.108+1191C>T
n.606C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.131851298T>ACA2773093472ENPP1c.556+31T>A (n.556+31T>A)
c.234+31T>A
c.108+1192T>A
n.607T>A

Number of alleles fetched