Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.131851367G>ACA147926658ENPP1c.556+100G>A (n.556+100G>A)
c.234+100G>A
c.108+1261G>A
n.676G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851367G=CA1664253821ENPP1c.556+100G= (n.556+100G=)
c.234+100G=
c.108+1261G=
n.676G=
6g.131851367G>TCA2680366374ENPP1c.556+100G>T (n.556+100G>T)
c.234+100G>T
c.108+1261G>T
n.676G>T
gnomAD v4
6g.131851368G>ACA2680366375ENPP1c.556+101G>A (n.556+101G>A)
c.234+101G>A
c.108+1262G>A
n.677G>A
gnomAD v4
6g.131851369C>ACA2680366376ENPP1c.556+102C>A (n.556+102C>A)
c.234+102C>A
c.108+1263C>A
n.678C>A
gnomAD v4
6g.131851370C>ACA2680366377ENPP1c.556+103C>A (n.556+103C>A)
c.234+103C>A
c.108+1264C>A
n.679C>A
gnomAD v4
6g.131851371A=CA1664253822ENPP1c.556+104A= (n.556+104A=)
c.234+104A=
c.108+1265A=
n.680A=
6g.131851371A>CCA1094555149ENPP1c.556+104A>C (n.556+104A>C)
c.234+104A>C
c.108+1265A>C
n.680A>C
dbSNP gnomAD v3 gnomAD v4
6g.131851372A=CA1664253823ENPP1c.556+105A= (n.556+105A=)
c.234+105A=
c.108+1266A=
n.681A=
6g.131851372A>CCA819061948ENPP1c.556+105A>C (n.556+105A>C)
c.234+105A>C
c.108+1266A>C
n.681A>C
dbSNP gnomAD v3 gnomAD v4
6g.131851372A>GCA147926661ENPP1c.556+105A>G (n.556+105A>G)
c.234+105A>G
c.108+1266A>G
n.681A>G
dbSNP
6g.131851373C>ACA2680366378ENPP1c.556+106C>A (n.556+106C>A)
c.234+106C>A
c.108+1267C>A
n.682C>A
gnomAD v4
6g.131851373C>TCA2680366379ENPP1c.556+106C>T (n.556+106C>T)
c.234+106C>T
c.108+1267C>T
n.682C>T
gnomAD v4
6g.131851374T>CCA2680366380ENPP1c.556+107T>C (n.556+107T>C)
c.234+107T>C
c.108+1268T>C
n.683T>C
gnomAD v4
6g.131851376T>CCA2680366381ENPP1c.556+109T>C (n.556+109T>C)
c.234+109T>C
c.108+1270T>C
n.685T>C
gnomAD v4
6g.131851378T>CCA2680366382ENPP1c.556+111T>C (n.556+111T>C)
c.234+111T>C
c.108+1272T>C
n.687T>C
gnomAD v4
6g.131851382C>ACA2680366383ENPP1c.556+115C>A (n.556+115C>A)
c.234+115C>A
c.108+1276C>A
n.691C>A
gnomAD v4
6g.131851382C=CA1664253824ENPP1c.556+115C= (n.556+115C=)
c.234+115C=
c.108+1276C=
n.691C=
6g.131851382C>GCA2773093481ENPP1c.556+115C>G (n.556+115C>G)
c.234+115C>G
c.108+1276C>G
n.691C>G
6g.131851382C>TCA1094555153ENPP1c.556+115C>T (n.556+115C>T)
c.234+115C>T
c.108+1276C>T
n.691C>T
dbSNP gnomAD v3 gnomAD v4
6g.131851383T>GCA2680366384ENPP1c.556+116T>G (n.556+116T>G)
c.234+116T>G
c.108+1277T>G
n.692T>G
gnomAD v4
6g.131851384G>ACA2680366385ENPP1c.556+117G>A (n.556+117G>A)
c.234+117G>A
c.108+1278G>A
n.693G>A
gnomAD v4
6g.131851384G>CCA2773093482ENPP1c.556+117G>C (n.556+117G>C)
c.234+117G>C
c.108+1278G>C
n.693G>C
6g.131851384G>TCA2773093483ENPP1c.556+117G>T (n.556+117G>T)
c.234+117G>T
c.108+1278G>T
n.693G>T
6g.131851384_131851385delinsGACA1664253825ENPP1c.556+117_556+118delinsGA (n.556+117_556+118delinsGA)
c.234+117_234+118delinsGA
c.108+1278_108+1279delinsGA
n.693_694delinsGA
6g.131851385A>TCA2680366386ENPP1c.556+118A>T (n.556+118A>T)
c.234+118A>T
c.108+1279A>T
n.694A>T
gnomAD v4
6g.131851391dupCA1664253826ENPP1c.556+124dup (n.556+124dup)
c.234+124dup
c.108+1285dup
n.700dup
dbSNP gnomAD v4
6g.131851391delCA570097332ENPP1c.556+124del (n.556+124del)
c.234+124del
c.108+1285del
n.700del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851390_131851391delCA2773093485ENPP1c.556+123_556+124del (n.556+123_556+124del)
c.234+123_234+124del
c.108+1284_108+1285del
n.699_700del
6g.131851390_131851391insCCAAACACACCCAACACCA2773093487ENPP1c.556+123_556+124insCCAAACACACCCAACAC (n.556+123_556+124insCCAAACACACCCAACAC)
c.234+123_234+124insCCAAACACACCCAACAC
c.108+1284_108+1285insCCAAACACACCCAACAC
n.699_700insCCAAACACACCCAACAC
6g.131851390_131851391insCAAACCAAACACACCCAACACCA2773093486ENPP1c.556+123_556+124insCAAACCAAACACACCCAACAC (n.556+123_556+124insCAAACCAAACACACCCAACAC)
c.234+123_234+124insCAAACCAAACACACCCAACAC
c.108+1284_108+1285insCAAACCAAACACACCCAACAC
n.699_700insCAAACCAAACACACCCAACAC
6g.131851391A=CA1664253827ENPP1c.556+124A= (n.556+124A=)
c.234+124A=
c.108+1285A=
n.700A=
6g.131851391A>GCA147926667ENPP1c.556+124A>G (n.556+124A>G)
c.234+124A>G
c.108+1285A>G
n.700A>G
dbSNP gnomAD v3 gnomAD v4
6g.131851392T>ACA2680366387ENPP1c.556+125T>A (n.556+125T>A)
c.234+125T>A
c.108+1286T>A
n.701T>A
gnomAD v4
6g.131851392T>CCA570097333ENPP1c.556+125T>C (n.556+125T>C)
c.234+125T>C
c.108+1286T>C
n.701T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851392T=CA1664253828ENPP1c.556+125T= (n.556+125T=)
c.234+125T=
c.108+1286T=
n.701T=
6g.131851393A=CA1664253829ENPP1c.556+126A= (n.556+126A=)
c.234+126A=
c.108+1287A=
n.702A=
6g.131851393A>TCA147926675ENPP1c.556+126A>T (n.556+126A>T)
c.234+126A>T
c.108+1287A>T
n.702A>T
dbSNP gnomAD v3 gnomAD v4
6g.131851393_131851394insCCAAACACACCCAACACCA2773093488ENPP1c.556+126_556+127insCCAAACACACCCAACAC (n.556+126_556+127insCCAAACACACCCAACAC)
c.234+126_234+127insCCAAACACACCCAACAC
c.108+1287_108+1288insCCAAACACACCCAACAC
n.702_703insCCAAACACACCCAACAC
6g.131851394A=CA1664253830ENPP1c.556+127A= (n.556+127A=)
c.234+127A=
c.108+1288A=
n.703A=
6g.131851394_131851395insCACCCA2773093490ENPP1c.556+127_556+128insCACC (n.556+127_556+128insCACC)
c.234+127_234+128insCACC
c.108+1288_108+1289insCACC
n.703_704insCACC
6g.131851398dupCA819061959ENPP1c.556+131dup (n.556+131dup)
c.234+131dup
c.108+1292dup
n.707dup
dbSNP gnomAD v3 gnomAD v4
6g.131851395_131851396insACA2773093491ENPP1c.556+128_556+129insA (n.556+128_556+129insA)
c.234+128_234+129insA
c.108+1289_108+1290insA
n.704_705insA
6g.131851397T>CCA2680366388ENPP1c.556+130T>C (n.556+130T>C)
c.234+130T>C
c.108+1291T>C
n.706T>C
gnomAD v4
6g.131851398T>ACA2680366389ENPP1c.556+131T>A (n.556+131T>A)
c.234+131T>A
c.108+1292T>A
n.707T>A
gnomAD v4
6g.131851402delCA2680366390ENPP1c.556+135del (n.556+135del)
c.234+135del
c.108+1296del
n.711del
gnomAD v4
6g.131851402A=CA1664253831ENPP1c.556+135A= (n.556+135A=)
c.234+135A=
c.108+1296A=
n.711A=
6g.131851402A>GCA819061961ENPP1c.556+135A>G (n.556+135A>G)
c.234+135A>G
c.108+1296A>G
n.711A>G
dbSNP
6g.131851403C>ACA2680366391ENPP1c.556+136C>A (n.556+136C>A)
c.234+136C>A
c.108+1297C>A
n.712C>A
gnomAD v4
6g.131851404T>GCA2680366393ENPP1c.556+137T>G (n.556+137T>G)
c.234+137T>G
c.108+1298T>G
n.713T>G
gnomAD v4
6g.131851408_131851409insTTTTTTTTTTTTTTTCA2773093494ENPP1c.556+141_556+142insTTTTTTTTTTTTTTT (n.556+141_556+142insTTTTTTTTTTTTTTT)
c.234+141_234+142insTTTTTTTTTTTTTTT
c.108+1302_108+1303insTTTTTTTTTTTTTTT
n.717_718insTTTTTTTTTTTTTTT
6g.131851408delCA2680366392ENPP1c.556+141del (n.556+141del)
c.234+141del
c.108+1302del
n.717del
gnomAD v4
6g.131851405T>CCA2680366394ENPP1c.556+138T>C (n.556+138T>C)
c.234+138T>C
c.108+1299T>C
n.714T>C
gnomAD v4
6g.131851406T>CCA2680366395ENPP1c.556+139T>C (n.556+139T>C)
c.234+139T>C
c.108+1300T>C
n.715T>C
gnomAD v4
6g.131851407T>CCA2680366396ENPP1c.556+140T>C (n.556+140T>C)
c.234+140T>C
c.108+1301T>C
n.716T>C
gnomAD v4
6g.131851407T>GCA2680366397ENPP1c.556+140T>G (n.556+140T>G)
c.234+140T>G
c.108+1301T>G
n.716T>G
gnomAD v4
6g.131851409A=CA1664253832ENPP1c.556+142A= (n.556+142A=)
c.234+142A=
c.108+1303A=
n.718A=
6g.131851409A>GCA452154701ENPP1c.556+142A>G (n.556+142A>G)
c.234+142A>G
c.108+1303A>G
n.718A>G
dbSNP gnomAD v3 gnomAD v4
6g.131851409A>TCA147926683ENPP1c.556+142A>T (n.556+142A>T)
c.234+142A>T
c.108+1303A>T
n.718A>T
dbSNP gnomAD v3 gnomAD v4
6g.131851412A>GCA2680366399ENPP1c.556+145A>G (n.556+145A>G)
c.234+145A>G
c.108+1306A>G
n.721A>G
gnomAD v4
6g.131851412_131851419delCA2680366398ENPP1c.556+145_556+152del (n.556+145_556+152del)
c.234+145_234+152del
c.108+1306_108+1313del
n.721_728del
gnomAD v4
6g.131851416A>CCA2680366400ENPP1c.556+149A>C (n.556+149A>C)
c.234+149A>C
c.108+1310A>C
n.725A>C
gnomAD v4
6g.131851417A>GCA2680366401ENPP1c.556+150A>G (n.556+150A>G)
c.234+150A>G
c.108+1311A>G
n.726A>G
gnomAD v4
6g.131851418A>GCA651158066ENPP1c.556+151A>G (n.556+151A>G)
c.234+151A>G
c.108+1312A>G
n.727A>G
COSMIC
6g.131851419_131851420delinsCTCA1664253833ENPP1c.556+152_556+153delinsCT (n.556+152_556+153delinsCT)
c.234+152_234+153delinsCT
c.108+1313_108+1314delinsCT
n.728_729delinsCT
6g.131851423dupCA2680366402ENPP1c.556+156dup (n.556+156dup)
c.234+156dup
c.108+1317dup
gnomAD v4
6g.131851423delCA147926691ENPP1c.556+156del (n.556+156del)
c.234+156del
c.108+1317del
n.732del
dbSNP gnomAD v3 gnomAD v4
6g.131851422_131851423delCA2680366403ENPP1c.556+155_556+156del (n.556+155_556+156del)
c.234+155_234+156del
c.108+1316_108+1317del
n.731_732del
gnomAD v4
6g.131851422T>ACA1664253835ENPP1c.556+155T>A (n.556+155T>A)
c.234+155T>A
c.108+1316T>A
n.731T>A
dbSNP
6g.131851422T=CA1664253834ENPP1c.556+155T= (n.556+155T=)
c.234+155T=
c.108+1316T=
n.731T=
6g.131851423_131851424delinsTACA1664253836ENPP1c.556+156_556+157delinsTA (n.556+156_556+157delinsTA)
c.234+156_234+157delinsTA
c.108+1317_108+1318delinsTA
6g.131851424A=CA1664253837ENPP1c.556+157A= (n.556+157A=)
c.234+157A=
c.108+1318A=
6g.131851424A>CCA1094555163ENPP1c.556+157A>C (n.556+157A>C)
c.234+157A>C
c.108+1318A>C
dbSNP gnomAD v3 gnomAD v4
6g.131851424A>GCA2680366404ENPP1c.556+157A>G (n.556+157A>G)
c.234+157A>G
c.108+1318A>G
gnomAD v4
6g.131851426delCA1094555162ENPP1c.556+159del (n.556+159del)
c.234+159del
c.108+1320del
dbSNP gnomAD v3 gnomAD v4
6g.131851426A>TCA2680366405ENPP1c.556+159A>T (n.556+159A>T)
c.234+159A>T
c.108+1320A>T
gnomAD v4
6g.131851427C>ACA570097334ENPP1c.556+160C>A (n.556+160C>A)
c.234+160C>A
c.108+1321C>A
gnomAD v2 gnomAD v3 gnomAD v4
6g.131851430A>GCA2680366406ENPP1c.556+163A>G (n.556+163A>G)
c.234+163A>G
c.108+1324A>G
gnomAD v4
6g.131851431C>ACA2680366407ENPP1c.556+164C>A (n.556+164C>A)
c.234+164C>A
c.108+1325C>A
gnomAD v4
6g.131851431C=CA1664253838ENPP1c.556+164C= (n.556+164C=)
c.234+164C=
c.108+1325C=
6g.131851431C>TCA147926693ENPP1c.556+164C>T (n.556+164C>T)
c.234+164C>T
c.108+1325C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851432A=CA1664253839ENPP1c.556+165A= (n.556+165A=)
c.234+165A=
c.108+1326A=
6g.131851432A>GCA147926698ENPP1c.556+165A>G (n.556+165A>G)
c.234+165A>G
c.108+1326A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851432A>TCA2680366408ENPP1c.556+165A>T (n.556+165A>T)
c.234+165A>T
c.108+1326A>T
gnomAD v4
6g.131851433C>ACA2680366409ENPP1c.556+166C>A (n.556+166C>A)
c.234+166C>A
c.108+1327C>A
gnomAD v4
6g.131851434A=CA1664253840ENPP1c.556+167A= (n.556+167A=)
c.234+167A=
c.108+1328A=
6g.131851434A>CCA2680366410ENPP1c.556+167A>C (n.556+167A>C)
c.234+167A>C
c.108+1328A>C
gnomAD v4
6g.131851434A>GCA147926704ENPP1c.556+167A>G (n.556+167A>G)
c.234+167A>G
c.108+1328A>G
dbSNP gnomAD v4
6g.131851435T>CCA2680366411ENPP1c.556+168T>C (n.556+168T>C)
c.234+168T>C
c.108+1329T>C
gnomAD v4
6g.131851436G>ACA819061992ENPP1c.556+169G>A (n.556+169G>A)
c.234+169G>A
c.108+1330G>A
dbSNP gnomAD v3 gnomAD v4
6g.131851436G=CA1664253841ENPP1c.556+169G= (n.556+169G=)
c.234+169G=
c.108+1330G=
6g.131851437G>ACA2680366412ENPP1c.556+170G>A (n.556+170G>A)
c.234+170G>A
c.108+1331G>A
gnomAD v4
6g.131851437G>TCA2740788587ENPP1c.556+170G>T (n.556+170G>T)
c.234+170G>T
c.108+1331G>T
6g.131851438G>ACA2680366413ENPP1c.556+171G>A (n.556+171G>A)
c.234+171G>A
c.108+1332G>A
gnomAD v4
6g.131851438_131851442delinsGGAGACA1664253842ENPP1c.556+171_556+175delinsGGAGA (n.556+171_556+175delinsGGAGA)
c.234+171_234+175delinsGGAGA
c.108+1332_108+1336delinsGGAGA
6g.131851439G>ACA2680366414ENPP1c.556+172G>A (n.556+172G>A)
c.234+172G>A
c.108+1333G>A
gnomAD v4
6g.131851439G>TCA1094555167ENPP1c.556+172G>T (n.556+172G>T)
c.234+172G>T
c.108+1333G>T
gnomAD v3 gnomAD v4
6g.131851444_131851447delCA1094555166ENPP1c.556+177_556+180del (n.556+177_556+180del)
c.234+177_234+180del
c.108+1338_108+1341del
dbSNP gnomAD v3 gnomAD v4
6g.131851440A>GCA2680366415ENPP1c.556+173A>G (n.556+173A>G)
c.234+173A>G
c.108+1334A>G
gnomAD v4
6g.131851441G>ACA819061997ENPP1c.556+174G>A (n.556+174G>A)
c.234+174G>A
c.108+1335G>A
dbSNP gnomAD v3 gnomAD v4
6g.131851441G=CA1664253843ENPP1c.556+174G= (n.556+174G=)
c.234+174G=
c.108+1335G=
6g.131851442A>TCA2680366416ENPP1c.556+175A>T (n.556+175A>T)
c.234+175A>T
c.108+1336A>T
gnomAD v4
6g.131851442_131851443delinsAGCA1664253844ENPP1c.556+175_556+176delinsAG (n.556+175_556+176delinsAG)
c.234+175_234+176delinsAG
c.108+1336_108+1337delinsAG
6g.131851443delCA819062003ENPP1c.556+176del (n.556+176del)
c.234+176del
c.108+1337del
dbSNP gnomAD v3 gnomAD v4
6g.131851443G>ACA2680366417ENPP1c.556+176G>A (n.556+176G>A)
c.234+176G>A
c.108+1337G>A
gnomAD v4
6g.131851443G>CCA819062004ENPP1c.556+176G>C (n.556+176G>C)
c.234+176G>C
c.108+1337G>C
dbSNP gnomAD v3 gnomAD v4
6g.131851443G=CA1664253845ENPP1c.556+176G= (n.556+176G=)
c.234+176G=
c.108+1337G=
6g.131851443G>TCA2680366418ENPP1c.556+176G>T (n.556+176G>T)
c.234+176G>T
c.108+1337G>T
gnomAD v4
6g.131851445G>ACA2680366419ENPP1c.556+178G>A (n.556+178G>A)
c.234+178G>A
c.108+1339G>A
gnomAD v4
6g.131851445G>CCA2680366420ENPP1c.556+178G>C (n.556+178G>C)
c.234+178G>C
c.108+1339G>C
dbSNP gnomAD v4
6g.131851445_131851448delCA2773093499ENPP1c.556+178_556+181del (n.556+178_556+181del)
c.234+178_234+181del
c.108+1339_108+1342del
6g.131851446A=CA1664253846ENPP1c.556+179A= (n.556+179A=)
c.234+179A=
c.108+1340A=
6g.131851446A>CCA147926707ENPP1c.556+179A>C (n.556+179A>C)
c.234+179A>C
c.108+1340A>C
dbSNP gnomAD v3 gnomAD v4
6g.131851446A>TCA2680366421ENPP1c.556+179A>T (n.556+179A>T)
c.234+179A>T
c.108+1340A>T
gnomAD v4
6g.131851447G>ACA819062005ENPP1c.556+180G>A (n.556+180G>A)
c.234+180G>A
c.108+1341G>A
dbSNP gnomAD v4
6g.131851447G>CCA2680366422ENPP1c.556+180G>C (n.556+180G>C)
c.234+180G>C
c.108+1341G>C
gnomAD v4
6g.131851447G=CA1664253847ENPP1c.556+180G= (n.556+180G=)
c.234+180G=
c.108+1341G=
6g.131851447G>TCA2680366423ENPP1c.556+180G>T (n.556+180G>T)
c.234+180G>T
c.108+1341G>T
gnomAD v4
6g.131851447_131851448insATCA2680366426ENPP1c.556+180_556+181insAT (n.556+180_556+181insAT)
c.234+180_234+181insAT
c.108+1341_108+1342insAT
gnomAD v4
6g.131851448T>ACA2680366427ENPP1c.556+181T>A (n.556+181T>A)
c.234+181T>A
c.108+1342T>A
gnomAD v4
6g.131851448T>CCA2680366425ENPP1c.556+181T>C (n.556+181T>C)
c.234+181T>C
c.108+1342T>C
gnomAD v4
6g.131851448T>GCA2680366424ENPP1c.556+181T>G (n.556+181T>G)
c.234+181T>G
c.108+1342T>G
gnomAD v4
6g.131851449A>CCA2680366428ENPP1c.556+182A>C (n.556+182A>C)
c.234+182A>C
c.108+1343A>C
gnomAD v4
6g.131851450T>ACA570097335ENPP1c.556+183T>A (n.556+183T>A)
c.234+183T>A
c.108+1344T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851450T>CCA2680366429ENPP1c.556+183T>C (n.556+183T>C)
c.234+183T>C
c.108+1344T>C
gnomAD v4
6g.131851450T>GCA2680366430ENPP1c.556+183T>G (n.556+183T>G)
c.234+183T>G
c.108+1344T>G
gnomAD v4
6g.131851450T=CA1664253848ENPP1c.556+183T= (n.556+183T=)
c.234+183T=
c.108+1344T=
6g.131851451G>ACA2680366431ENPP1c.556+184G>A (n.556+184G>A)
c.234+184G>A
c.108+1345G>A
gnomAD v4
6g.131851451G>TCA2680366432ENPP1c.556+184G>T (n.556+184G>T)
c.234+184G>T
c.108+1345G>T
gnomAD v4
6g.131851452T>ACA2680366433ENPP1c.556+185T>A (n.556+185T>A)
c.234+185T>A
c.108+1346T>A
gnomAD v4
6g.131851456G>ACA2831453966ENPP1c.556+189G>A (n.556+189G>A)
c.234+189G>A
c.108+1350G>A
6g.131851456G>CCA147926709ENPP1c.556+189G>C (n.556+189G>C)
c.234+189G>C
c.108+1350G>C
dbSNP gnomAD v4
6g.131851456G=CA1664253849ENPP1c.556+189G= (n.556+189G=)
c.234+189G=
c.108+1350G=
6g.131851456G>TCA2680366434ENPP1c.556+189G>T (n.556+189G>T)
c.234+189G>T
c.108+1350G>T
gnomAD v4
6g.131851458A=CA1664253850ENPP1c.556+191A= (n.556+191A=)
c.234+191A=
c.108+1352A=
6g.131851458A>CCA1094555170ENPP1c.556+191A>C (n.556+191A>C)
c.234+191A>C
c.108+1352A>C
dbSNP gnomAD v3 gnomAD v4
6g.131851459C=CA1664253851ENPP1c.556+192C= (n.556+192C=)
c.234+192C=
c.108+1353C=
6g.131851459C>TCA1664253852ENPP1c.556+192C>T (n.556+192C>T)
c.234+192C>T
c.108+1353C>T
dbSNP
6g.131851460A=CA1664253853ENPP1c.556+193A= (n.556+193A=)
c.234+193A=
c.108+1354A=
6g.131851460A>GCA147926724ENPP1c.556+193A>G (n.556+193A>G)
c.234+193A>G
c.108+1354A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851461T>ACA2773093500ENPP1c.556+194T>A (n.556+194T>A)
c.234+194T>A
c.108+1355T>A
6g.131851464T>ACA2680366435ENPP1c.556+197T>A (n.556+197T>A)
c.234+197T>A
c.108+1358T>A
gnomAD v4
6g.131851464T>CCA147926727ENPP1c.556+197T>C (n.556+197T>C)
c.234+197T>C
c.108+1358T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.131851464T=CA1664253854ENPP1c.556+197T= (n.556+197T=)
c.234+197T=
c.108+1358T=
6g.131851466C>ACA2680366436ENPP1c.556+199C>A (n.556+199C>A)
c.234+199C>A
c.108+1360C>A
gnomAD v4
6g.131851466C=CA1664253855ENPP1c.556+199C= (n.556+199C=)
c.234+199C=
c.108+1360C=
6g.131851466C>TCA147926742ENPP1c.556+199C>T (n.556+199C>T)
c.234+199C>T
c.108+1360C>T
dbSNP gnomAD v4
6g.131851467C>ACA2680366437ENPP1c.556+200C>A (n.556+200C>A)
c.234+200C>A
c.108+1361C>A
gnomAD v4

Number of alleles fetched