Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.131851367G>A | CA147926658 | ENPP1 | c.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 |
6 | g.131851367G= | CA1664253821 | ENPP1 | c.556+100G= (n.556+100G=) c.234+100G= c.108+1261G= n.676G= | |
6 | g.131851367G>T | CA2680366374 | ENPP1 | c.556+100G>T (n.556+100G>T) c.234+100G>T c.108+1261G>T n.676G>T | gnomAD v4 |
6 | g.131851368G>A | CA2680366375 | ENPP1 | c.556+101G>A (n.556+101G>A) c.234+101G>A c.108+1262G>A n.677G>A | gnomAD v4 |
6 | g.131851369C>A | CA2680366376 | ENPP1 | c.556+102C>A (n.556+102C>A) c.234+102C>A c.108+1263C>A n.678C>A | gnomAD v4 |
6 | g.131851370C>A | CA2680366377 | ENPP1 | c.556+103C>A (n.556+103C>A) c.234+103C>A c.108+1264C>A n.679C>A | gnomAD v4 |
6 | g.131851371A= | CA1664253822 | ENPP1 | c.556+104A= (n.556+104A=) c.234+104A= c.108+1265A= n.680A= | |
6 | g.131851371A>C | CA1094555149 | ENPP1 | c.556+104A>C (n.556+104A>C) c.234+104A>C c.108+1265A>C n.680A>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851372A= | CA1664253823 | ENPP1 | c.556+105A= (n.556+105A=) c.234+105A= c.108+1266A= n.681A= | |
6 | g.131851372A>C | CA819061948 | ENPP1 | c.556+105A>C (n.556+105A>C) c.234+105A>C c.108+1266A>C n.681A>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851372A>G | CA147926661 | ENPP1 | c.556+105A>G (n.556+105A>G) c.234+105A>G c.108+1266A>G n.681A>G | dbSNP |
6 | g.131851373C>A | CA2680366378 | ENPP1 | c.556+106C>A (n.556+106C>A) c.234+106C>A c.108+1267C>A n.682C>A | gnomAD v4 |
6 | g.131851373C>T | CA2680366379 | ENPP1 | c.556+106C>T (n.556+106C>T) c.234+106C>T c.108+1267C>T n.682C>T | gnomAD v4 |
6 | g.131851374T>C | CA2680366380 | ENPP1 | c.556+107T>C (n.556+107T>C) c.234+107T>C c.108+1268T>C n.683T>C | gnomAD v4 |
6 | g.131851376T>C | CA2680366381 | ENPP1 | c.556+109T>C (n.556+109T>C) c.234+109T>C c.108+1270T>C n.685T>C | gnomAD v4 |
6 | g.131851378T>C | CA2680366382 | ENPP1 | c.556+111T>C (n.556+111T>C) c.234+111T>C c.108+1272T>C n.687T>C | gnomAD v4 |
6 | g.131851382C>A | CA2680366383 | ENPP1 | c.556+115C>A (n.556+115C>A) c.234+115C>A c.108+1276C>A n.691C>A | gnomAD v4 |
6 | g.131851382C= | CA1664253824 | ENPP1 | c.556+115C= (n.556+115C=) c.234+115C= c.108+1276C= n.691C= | |
6 | g.131851382C>G | CA2773093481 | ENPP1 | c.556+115C>G (n.556+115C>G) c.234+115C>G c.108+1276C>G n.691C>G | |
6 | g.131851382C>T | CA1094555153 | ENPP1 | c.556+115C>T (n.556+115C>T) c.234+115C>T c.108+1276C>T n.691C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851383T>G | CA2680366384 | ENPP1 | c.556+116T>G (n.556+116T>G) c.234+116T>G c.108+1277T>G n.692T>G | gnomAD v4 |
6 | g.131851384G>A | CA2680366385 | ENPP1 | c.556+117G>A (n.556+117G>A) c.234+117G>A c.108+1278G>A n.693G>A | gnomAD v4 |
6 | g.131851384G>C | CA2773093482 | ENPP1 | c.556+117G>C (n.556+117G>C) c.234+117G>C c.108+1278G>C n.693G>C | |
6 | g.131851384G>T | CA2773093483 | ENPP1 | c.556+117G>T (n.556+117G>T) c.234+117G>T c.108+1278G>T n.693G>T | |
6 | g.131851384_131851385delinsGA | CA1664253825 | ENPP1 | c.556+117_556+118delinsGA (n.556+117_556+118delinsGA) c.234+117_234+118delinsGA c.108+1278_108+1279delinsGA n.693_694delinsGA | |
6 | g.131851385A>T | CA2680366386 | ENPP1 | c.556+118A>T (n.556+118A>T) c.234+118A>T c.108+1279A>T n.694A>T | gnomAD v4 |
6 | g.131851391dup | CA1664253826 | ENPP1 | c.556+124dup (n.556+124dup) c.234+124dup c.108+1285dup n.700dup | dbSNP gnomAD v4 |
6 | g.131851391del | CA570097332 | ENPP1 | c.556+124del (n.556+124del) c.234+124del c.108+1285del n.700del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851390_131851391del | CA2773093485 | ENPP1 | c.556+123_556+124del (n.556+123_556+124del) c.234+123_234+124del c.108+1284_108+1285del n.699_700del | |
6 | g.131851390_131851391insCCAAACACACCCAACAC | CA2773093487 | ENPP1 | c.556+123_556+124insCCAAACACACCCAACAC (n.556+123_556+124insCCAAACACACCCAACAC) c.234+123_234+124insCCAAACACACCCAACAC c.108+1284_108+1285insCCAAACACACCCAACAC n.699_700insCCAAACACACCCAACAC | |
6 | g.131851390_131851391insCAAACCAAACACACCCAACAC | CA2773093486 | ENPP1 | c.556+123_556+124insCAAACCAAACACACCCAACAC (n.556+123_556+124insCAAACCAAACACACCCAACAC) c.234+123_234+124insCAAACCAAACACACCCAACAC c.108+1284_108+1285insCAAACCAAACACACCCAACAC n.699_700insCAAACCAAACACACCCAACAC | |
6 | g.131851391A= | CA1664253827 | ENPP1 | c.556+124A= (n.556+124A=) c.234+124A= c.108+1285A= n.700A= | |
6 | g.131851391A>G | CA147926667 | ENPP1 | c.556+124A>G (n.556+124A>G) c.234+124A>G c.108+1285A>G n.700A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851392T>A | CA2680366387 | ENPP1 | c.556+125T>A (n.556+125T>A) c.234+125T>A c.108+1286T>A n.701T>A | gnomAD v4 |
6 | g.131851392T>C | CA570097333 | ENPP1 | c.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 |
6 | g.131851392T= | CA1664253828 | ENPP1 | c.556+125T= (n.556+125T=) c.234+125T= c.108+1286T= n.701T= | |
6 | g.131851393A= | CA1664253829 | ENPP1 | c.556+126A= (n.556+126A=) c.234+126A= c.108+1287A= n.702A= | |
6 | g.131851393A>T | CA147926675 | ENPP1 | c.556+126A>T (n.556+126A>T) c.234+126A>T c.108+1287A>T n.702A>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851393_131851394insCCAAACACACCCAACAC | CA2773093488 | ENPP1 | c.556+126_556+127insCCAAACACACCCAACAC (n.556+126_556+127insCCAAACACACCCAACAC) c.234+126_234+127insCCAAACACACCCAACAC c.108+1287_108+1288insCCAAACACACCCAACAC n.702_703insCCAAACACACCCAACAC | |
6 | g.131851394A= | CA1664253830 | ENPP1 | c.556+127A= (n.556+127A=) c.234+127A= c.108+1288A= n.703A= | |
6 | g.131851394_131851395insCACC | CA2773093490 | ENPP1 | c.556+127_556+128insCACC (n.556+127_556+128insCACC) c.234+127_234+128insCACC c.108+1288_108+1289insCACC n.703_704insCACC | |
6 | g.131851398dup | CA819061959 | ENPP1 | c.556+131dup (n.556+131dup) c.234+131dup c.108+1292dup n.707dup | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851395_131851396insA | CA2773093491 | ENPP1 | c.556+128_556+129insA (n.556+128_556+129insA) c.234+128_234+129insA c.108+1289_108+1290insA n.704_705insA | |
6 | g.131851397T>C | CA2680366388 | ENPP1 | c.556+130T>C (n.556+130T>C) c.234+130T>C c.108+1291T>C n.706T>C | gnomAD v4 |
6 | g.131851398T>A | CA2680366389 | ENPP1 | c.556+131T>A (n.556+131T>A) c.234+131T>A c.108+1292T>A n.707T>A | gnomAD v4 |
6 | g.131851402del | CA2680366390 | ENPP1 | c.556+135del (n.556+135del) c.234+135del c.108+1296del n.711del | gnomAD v4 |
6 | g.131851402A= | CA1664253831 | ENPP1 | c.556+135A= (n.556+135A=) c.234+135A= c.108+1296A= n.711A= | |
6 | g.131851402A>G | CA819061961 | ENPP1 | c.556+135A>G (n.556+135A>G) c.234+135A>G c.108+1296A>G n.711A>G | dbSNP |
6 | g.131851403C>A | CA2680366391 | ENPP1 | c.556+136C>A (n.556+136C>A) c.234+136C>A c.108+1297C>A n.712C>A | gnomAD v4 |
6 | g.131851404T>G | CA2680366393 | ENPP1 | c.556+137T>G (n.556+137T>G) c.234+137T>G c.108+1298T>G n.713T>G | gnomAD v4 |
6 | g.131851408_131851409insTTTTTTTTTTTTTTT | CA2773093494 | ENPP1 | c.556+141_556+142insTTTTTTTTTTTTTTT (n.556+141_556+142insTTTTTTTTTTTTTTT) c.234+141_234+142insTTTTTTTTTTTTTTT c.108+1302_108+1303insTTTTTTTTTTTTTTT n.717_718insTTTTTTTTTTTTTTT | |
6 | g.131851408del | CA2680366392 | ENPP1 | c.556+141del (n.556+141del) c.234+141del c.108+1302del n.717del | gnomAD v4 |
6 | g.131851405T>C | CA2680366394 | ENPP1 | c.556+138T>C (n.556+138T>C) c.234+138T>C c.108+1299T>C n.714T>C | gnomAD v4 |
6 | g.131851406T>C | CA2680366395 | ENPP1 | c.556+139T>C (n.556+139T>C) c.234+139T>C c.108+1300T>C n.715T>C | gnomAD v4 |
6 | g.131851407T>C | CA2680366396 | ENPP1 | c.556+140T>C (n.556+140T>C) c.234+140T>C c.108+1301T>C n.716T>C | gnomAD v4 |
6 | g.131851407T>G | CA2680366397 | ENPP1 | c.556+140T>G (n.556+140T>G) c.234+140T>G c.108+1301T>G n.716T>G | gnomAD v4 |
6 | g.131851409A= | CA1664253832 | ENPP1 | c.556+142A= (n.556+142A=) c.234+142A= c.108+1303A= n.718A= | |
6 | g.131851409A>G | CA452154701 | ENPP1 | c.556+142A>G (n.556+142A>G) c.234+142A>G c.108+1303A>G n.718A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851409A>T | CA147926683 | ENPP1 | c.556+142A>T (n.556+142A>T) c.234+142A>T c.108+1303A>T n.718A>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851412A>G | CA2680366399 | ENPP1 | c.556+145A>G (n.556+145A>G) c.234+145A>G c.108+1306A>G n.721A>G | gnomAD v4 |
6 | g.131851412_131851419del | CA2680366398 | ENPP1 | c.556+145_556+152del (n.556+145_556+152del) c.234+145_234+152del c.108+1306_108+1313del n.721_728del | gnomAD v4 |
6 | g.131851416A>C | CA2680366400 | ENPP1 | c.556+149A>C (n.556+149A>C) c.234+149A>C c.108+1310A>C n.725A>C | gnomAD v4 |
6 | g.131851417A>G | CA2680366401 | ENPP1 | c.556+150A>G (n.556+150A>G) c.234+150A>G c.108+1311A>G n.726A>G | gnomAD v4 |
6 | g.131851418A>G | CA651158066 | ENPP1 | c.556+151A>G (n.556+151A>G) c.234+151A>G c.108+1312A>G n.727A>G | COSMIC |
6 | g.131851419_131851420delinsCT | CA1664253833 | ENPP1 | c.556+152_556+153delinsCT (n.556+152_556+153delinsCT) c.234+152_234+153delinsCT c.108+1313_108+1314delinsCT n.728_729delinsCT | |
6 | g.131851423dup | CA2680366402 | ENPP1 | c.556+156dup (n.556+156dup) c.234+156dup c.108+1317dup | gnomAD v4 |
6 | g.131851423del | CA147926691 | ENPP1 | c.556+156del (n.556+156del) c.234+156del c.108+1317del n.732del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851422_131851423del | CA2680366403 | ENPP1 | c.556+155_556+156del (n.556+155_556+156del) c.234+155_234+156del c.108+1316_108+1317del n.731_732del | gnomAD v4 |
6 | g.131851422T>A | CA1664253835 | ENPP1 | c.556+155T>A (n.556+155T>A) c.234+155T>A c.108+1316T>A n.731T>A | dbSNP |
6 | g.131851422T= | CA1664253834 | ENPP1 | c.556+155T= (n.556+155T=) c.234+155T= c.108+1316T= n.731T= | |
6 | g.131851423_131851424delinsTA | CA1664253836 | ENPP1 | c.556+156_556+157delinsTA (n.556+156_556+157delinsTA) c.234+156_234+157delinsTA c.108+1317_108+1318delinsTA | |
6 | g.131851424A= | CA1664253837 | ENPP1 | c.556+157A= (n.556+157A=) c.234+157A= c.108+1318A= | |
6 | g.131851424A>C | CA1094555163 | ENPP1 | c.556+157A>C (n.556+157A>C) c.234+157A>C c.108+1318A>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851424A>G | CA2680366404 | ENPP1 | c.556+157A>G (n.556+157A>G) c.234+157A>G c.108+1318A>G | gnomAD v4 |
6 | g.131851426del | CA1094555162 | ENPP1 | c.556+159del (n.556+159del) c.234+159del c.108+1320del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851426A>T | CA2680366405 | ENPP1 | c.556+159A>T (n.556+159A>T) c.234+159A>T c.108+1320A>T | gnomAD v4 |
6 | g.131851427C>A | CA570097334 | ENPP1 | c.556+160C>A (n.556+160C>A) c.234+160C>A c.108+1321C>A | gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851430A>G | CA2680366406 | ENPP1 | c.556+163A>G (n.556+163A>G) c.234+163A>G c.108+1324A>G | gnomAD v4 |
6 | g.131851431C>A | CA2680366407 | ENPP1 | c.556+164C>A (n.556+164C>A) c.234+164C>A c.108+1325C>A | gnomAD v4 |
6 | g.131851431C= | CA1664253838 | ENPP1 | c.556+164C= (n.556+164C=) c.234+164C= c.108+1325C= | |
6 | g.131851431C>T | CA147926693 | ENPP1 | c.556+164C>T (n.556+164C>T) c.234+164C>T c.108+1325C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851432A= | CA1664253839 | ENPP1 | c.556+165A= (n.556+165A=) c.234+165A= c.108+1326A= | |
6 | g.131851432A>G | CA147926698 | ENPP1 | c.556+165A>G (n.556+165A>G) c.234+165A>G c.108+1326A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851432A>T | CA2680366408 | ENPP1 | c.556+165A>T (n.556+165A>T) c.234+165A>T c.108+1326A>T | gnomAD v4 |
6 | g.131851433C>A | CA2680366409 | ENPP1 | c.556+166C>A (n.556+166C>A) c.234+166C>A c.108+1327C>A | gnomAD v4 |
6 | g.131851434A= | CA1664253840 | ENPP1 | c.556+167A= (n.556+167A=) c.234+167A= c.108+1328A= | |
6 | g.131851434A>C | CA2680366410 | ENPP1 | c.556+167A>C (n.556+167A>C) c.234+167A>C c.108+1328A>C | gnomAD v4 |
6 | g.131851434A>G | CA147926704 | ENPP1 | c.556+167A>G (n.556+167A>G) c.234+167A>G c.108+1328A>G | dbSNP gnomAD v4 |
6 | g.131851435T>C | CA2680366411 | ENPP1 | c.556+168T>C (n.556+168T>C) c.234+168T>C c.108+1329T>C | gnomAD v4 |
6 | g.131851436G>A | CA819061992 | ENPP1 | c.556+169G>A (n.556+169G>A) c.234+169G>A c.108+1330G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851436G= | CA1664253841 | ENPP1 | c.556+169G= (n.556+169G=) c.234+169G= c.108+1330G= | |
6 | g.131851437G>A | CA2680366412 | ENPP1 | c.556+170G>A (n.556+170G>A) c.234+170G>A c.108+1331G>A | gnomAD v4 |
6 | g.131851437G>T | CA2740788587 | ENPP1 | c.556+170G>T (n.556+170G>T) c.234+170G>T c.108+1331G>T | |
6 | g.131851438G>A | CA2680366413 | ENPP1 | c.556+171G>A (n.556+171G>A) c.234+171G>A c.108+1332G>A | gnomAD v4 |
6 | g.131851438_131851442delinsGGAGA | CA1664253842 | ENPP1 | c.556+171_556+175delinsGGAGA (n.556+171_556+175delinsGGAGA) c.234+171_234+175delinsGGAGA c.108+1332_108+1336delinsGGAGA | |
6 | g.131851439G>A | CA2680366414 | ENPP1 | c.556+172G>A (n.556+172G>A) c.234+172G>A c.108+1333G>A | gnomAD v4 |
6 | g.131851439G>T | CA1094555167 | ENPP1 | c.556+172G>T (n.556+172G>T) c.234+172G>T c.108+1333G>T | gnomAD v3 gnomAD v4 |
6 | g.131851444_131851447del | CA1094555166 | ENPP1 | c.556+177_556+180del (n.556+177_556+180del) c.234+177_234+180del c.108+1338_108+1341del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851440A>G | CA2680366415 | ENPP1 | c.556+173A>G (n.556+173A>G) c.234+173A>G c.108+1334A>G | gnomAD v4 |
6 | g.131851441G>A | CA819061997 | ENPP1 | c.556+174G>A (n.556+174G>A) c.234+174G>A c.108+1335G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851441G= | CA1664253843 | ENPP1 | c.556+174G= (n.556+174G=) c.234+174G= c.108+1335G= | |
6 | g.131851442A>T | CA2680366416 | ENPP1 | c.556+175A>T (n.556+175A>T) c.234+175A>T c.108+1336A>T | gnomAD v4 |
6 | g.131851442_131851443delinsAG | CA1664253844 | ENPP1 | c.556+175_556+176delinsAG (n.556+175_556+176delinsAG) c.234+175_234+176delinsAG c.108+1336_108+1337delinsAG | |
6 | g.131851443del | CA819062003 | ENPP1 | c.556+176del (n.556+176del) c.234+176del c.108+1337del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851443G>A | CA2680366417 | ENPP1 | c.556+176G>A (n.556+176G>A) c.234+176G>A c.108+1337G>A | gnomAD v4 |
6 | g.131851443G>C | CA819062004 | ENPP1 | c.556+176G>C (n.556+176G>C) c.234+176G>C c.108+1337G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851443G= | CA1664253845 | ENPP1 | c.556+176G= (n.556+176G=) c.234+176G= c.108+1337G= | |
6 | g.131851443G>T | CA2680366418 | ENPP1 | c.556+176G>T (n.556+176G>T) c.234+176G>T c.108+1337G>T | gnomAD v4 |
6 | g.131851445G>A | CA2680366419 | ENPP1 | c.556+178G>A (n.556+178G>A) c.234+178G>A c.108+1339G>A | gnomAD v4 |
6 | g.131851445G>C | CA2680366420 | ENPP1 | c.556+178G>C (n.556+178G>C) c.234+178G>C c.108+1339G>C | dbSNP gnomAD v4 |
6 | g.131851445_131851448del | CA2773093499 | ENPP1 | c.556+178_556+181del (n.556+178_556+181del) c.234+178_234+181del c.108+1339_108+1342del | |
6 | g.131851446A= | CA1664253846 | ENPP1 | c.556+179A= (n.556+179A=) c.234+179A= c.108+1340A= | |
6 | g.131851446A>C | CA147926707 | ENPP1 | c.556+179A>C (n.556+179A>C) c.234+179A>C c.108+1340A>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851446A>T | CA2680366421 | ENPP1 | c.556+179A>T (n.556+179A>T) c.234+179A>T c.108+1340A>T | gnomAD v4 |
6 | g.131851447G>A | CA819062005 | ENPP1 | c.556+180G>A (n.556+180G>A) c.234+180G>A c.108+1341G>A | dbSNP gnomAD v4 |
6 | g.131851447G>C | CA2680366422 | ENPP1 | c.556+180G>C (n.556+180G>C) c.234+180G>C c.108+1341G>C | gnomAD v4 |
6 | g.131851447G= | CA1664253847 | ENPP1 | c.556+180G= (n.556+180G=) c.234+180G= c.108+1341G= | |
6 | g.131851447G>T | CA2680366423 | ENPP1 | c.556+180G>T (n.556+180G>T) c.234+180G>T c.108+1341G>T | gnomAD v4 |
6 | g.131851447_131851448insAT | CA2680366426 | ENPP1 | c.556+180_556+181insAT (n.556+180_556+181insAT) c.234+180_234+181insAT c.108+1341_108+1342insAT | gnomAD v4 |
6 | g.131851448T>A | CA2680366427 | ENPP1 | c.556+181T>A (n.556+181T>A) c.234+181T>A c.108+1342T>A | gnomAD v4 |
6 | g.131851448T>C | CA2680366425 | ENPP1 | c.556+181T>C (n.556+181T>C) c.234+181T>C c.108+1342T>C | gnomAD v4 |
6 | g.131851448T>G | CA2680366424 | ENPP1 | c.556+181T>G (n.556+181T>G) c.234+181T>G c.108+1342T>G | gnomAD v4 |
6 | g.131851449A>C | CA2680366428 | ENPP1 | c.556+182A>C (n.556+182A>C) c.234+182A>C c.108+1343A>C | gnomAD v4 |
6 | g.131851450T>A | CA570097335 | ENPP1 | c.556+183T>A (n.556+183T>A) c.234+183T>A c.108+1344T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851450T>C | CA2680366429 | ENPP1 | c.556+183T>C (n.556+183T>C) c.234+183T>C c.108+1344T>C | gnomAD v4 |
6 | g.131851450T>G | CA2680366430 | ENPP1 | c.556+183T>G (n.556+183T>G) c.234+183T>G c.108+1344T>G | gnomAD v4 |
6 | g.131851450T= | CA1664253848 | ENPP1 | c.556+183T= (n.556+183T=) c.234+183T= c.108+1344T= | |
6 | g.131851451G>A | CA2680366431 | ENPP1 | c.556+184G>A (n.556+184G>A) c.234+184G>A c.108+1345G>A | gnomAD v4 |
6 | g.131851451G>T | CA2680366432 | ENPP1 | c.556+184G>T (n.556+184G>T) c.234+184G>T c.108+1345G>T | gnomAD v4 |
6 | g.131851452T>A | CA2680366433 | ENPP1 | c.556+185T>A (n.556+185T>A) c.234+185T>A c.108+1346T>A | gnomAD v4 |
6 | g.131851456G>A | CA2831453966 | ENPP1 | c.556+189G>A (n.556+189G>A) c.234+189G>A c.108+1350G>A | |
6 | g.131851456G>C | CA147926709 | ENPP1 | c.556+189G>C (n.556+189G>C) c.234+189G>C c.108+1350G>C | dbSNP gnomAD v4 |
6 | g.131851456G= | CA1664253849 | ENPP1 | c.556+189G= (n.556+189G=) c.234+189G= c.108+1350G= | |
6 | g.131851456G>T | CA2680366434 | ENPP1 | c.556+189G>T (n.556+189G>T) c.234+189G>T c.108+1350G>T | gnomAD v4 |
6 | g.131851458A= | CA1664253850 | ENPP1 | c.556+191A= (n.556+191A=) c.234+191A= c.108+1352A= | |
6 | g.131851458A>C | CA1094555170 | ENPP1 | c.556+191A>C (n.556+191A>C) c.234+191A>C c.108+1352A>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851459C= | CA1664253851 | ENPP1 | c.556+192C= (n.556+192C=) c.234+192C= c.108+1353C= | |
6 | g.131851459C>T | CA1664253852 | ENPP1 | c.556+192C>T (n.556+192C>T) c.234+192C>T c.108+1353C>T | dbSNP |
6 | g.131851460A= | CA1664253853 | ENPP1 | c.556+193A= (n.556+193A=) c.234+193A= c.108+1354A= | |
6 | g.131851460A>G | CA147926724 | ENPP1 | c.556+193A>G (n.556+193A>G) c.234+193A>G c.108+1354A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851461T>A | CA2773093500 | ENPP1 | c.556+194T>A (n.556+194T>A) c.234+194T>A c.108+1355T>A | |
6 | g.131851464T>A | CA2680366435 | ENPP1 | c.556+197T>A (n.556+197T>A) c.234+197T>A c.108+1358T>A | gnomAD v4 |
6 | g.131851464T>C | CA147926727 | ENPP1 | c.556+197T>C (n.556+197T>C) c.234+197T>C c.108+1358T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851464T= | CA1664253854 | ENPP1 | c.556+197T= (n.556+197T=) c.234+197T= c.108+1358T= | |
6 | g.131851466C>A | CA2680366436 | ENPP1 | c.556+199C>A (n.556+199C>A) c.234+199C>A c.108+1360C>A | gnomAD v4 |
6 | g.131851466C= | CA1664253855 | ENPP1 | c.556+199C= (n.556+199C=) c.234+199C= c.108+1360C= | |
6 | g.131851466C>T | CA147926742 | ENPP1 | c.556+199C>T (n.556+199C>T) c.234+199C>T c.108+1360C>T | dbSNP gnomAD v4 |
6 | g.131851467C>A | CA2680366437 | ENPP1 | c.556+200C>A (n.556+200C>A) c.234+200C>A c.108+1361C>A | gnomAD v4 |