Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.131851301T>C | CA2680366346 | ENPP1 | c.556+34T>C (n.556+34T>C) c.234+34T>C c.108+1195T>C n.610T>C | gnomAD v4 |
6 | g.131851305T>C | CA4001941 | ENPP1 | c.556+38T>C (n.556+38T>C) c.234+38T>C c.108+1199T>C n.614T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851305T= | CA1664253795 | ENPP1 | c.556+38T= (n.556+38T=) c.234+38T= c.108+1199T= n.614T= | |
6 | g.131851307C>G | CA2680366347 | ENPP1 | c.556+40C>G (n.556+40C>G) c.234+40C>G c.108+1201C>G n.616C>G | gnomAD v4 |
6 | g.131851309A>G | CA2680366348 | ENPP1 | c.556+42A>G (n.556+42A>G) c.234+42A>G c.108+1203A>G n.618A>G | gnomAD v4 |
6 | g.131851311C>A | CA4001943 | ENPP1 | c.556+44C>A (n.556+44C>A) c.234+44C>A c.108+1205C>A n.620C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851311C= | CA1664253796 | ENPP1 | c.556+44C= (n.556+44C=) c.234+44C= c.108+1205C= n.620C= | |
6 | g.131851311C>T | CA4001942 | ENPP1 | c.556+44C>T (n.556+44C>T) c.234+44C>T c.108+1205C>T n.620C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851312G>A | CA4001944 | ENPP1 | c.556+45G>A (n.556+45G>A) c.234+45G>A c.108+1206G>A n.621G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851312G= | CA1664253797 | ENPP1 | c.556+45G= (n.556+45G=) c.234+45G= c.108+1206G= n.621G= | |
6 | g.131851314C>G | CA2680366349 | ENPP1 | c.556+47C>G (n.556+47C>G) c.234+47C>G c.108+1208C>G n.623C>G | gnomAD v4 |
6 | g.131851314C>T | CA2680366350 | ENPP1 | c.556+47C>T (n.556+47C>T) c.234+47C>T c.108+1208C>T n.623C>T | gnomAD v4 |
6 | g.131851316T>C | CA4001945 | ENPP1 | c.556+49T>C (n.556+49T>C) c.234+49T>C c.108+1210T>C n.625T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851316T= | CA1664253798 | ENPP1 | c.556+49T= (n.556+49T=) c.234+49T= c.108+1210T= n.625T= | |
6 | g.131851318del | CA2680366351 | ENPP1 | c.556+51del (n.556+51del) c.234+51del c.108+1212del n.627del | gnomAD v4 |
6 | g.131851319C>A | CA2578742761 | ENPP1 | c.556+52C>A (n.556+52C>A) c.234+52C>A c.108+1213C>A n.628C>A | |
6 | g.131851319C= | CA1664253799 | ENPP1 | c.556+52C= (n.556+52C=) c.234+52C= c.108+1213C= n.628C= | |
6 | g.131851319C>G | CA2680366352 | ENPP1 | c.556+52C>G (n.556+52C>G) c.234+52C>G c.108+1213C>G n.628C>G | gnomAD v4 |
6 | g.131851319C>T | CA4001946 | ENPP1 | c.556+52C>T (n.556+52C>T) c.234+52C>T c.108+1213C>T n.628C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851320G>A | CA147926593 | ENPP1 | c.556+53G>A (n.556+53G>A) c.234+53G>A c.108+1214G>A n.629G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851320G= | CA1664253800 | ENPP1 | c.556+53G= (n.556+53G=) c.234+53G= c.108+1214G= n.629G= | |
6 | g.131851320G>T | CA2680366354 | ENPP1 | c.556+53G>T (n.556+53G>T) c.234+53G>T c.108+1214G>T n.629G>T | gnomAD v4 |
6 | g.131851323del | CA2680366353 | ENPP1 | c.556+56del (n.556+56del) c.234+56del c.108+1217del n.632del | gnomAD v4 |
6 | g.131851321G>T | CA2773093475 | ENPP1 | c.556+54G>T (n.556+54G>T) c.234+54G>T c.108+1215G>T n.630G>T | |
6 | g.131851322G>A | CA651158061 | ENPP1 | c.556+55G>A (n.556+55G>A) c.234+55G>A c.108+1216G>A n.631G>A | COSMIC |
6 | g.131851325T>C | CA1664253802 | ENPP1 | c.556+58T>C (n.556+58T>C) c.234+58T>C c.108+1219T>C n.634T>C | dbSNP gnomAD v4 |
6 | g.131851325T= | CA1664253801 | ENPP1 | c.556+58T= (n.556+58T=) c.234+58T= c.108+1219T= n.634T= | |
6 | g.131851327dup | CA2680366355 | ENPP1 | c.556+60dup (n.556+60dup) c.234+60dup c.108+1221dup n.636dup | gnomAD v4 |
6 | g.131851326T>A | CA2680366356 | ENPP1 | c.556+59T>A (n.556+59T>A) c.234+59T>A c.108+1220T>A n.635T>A | gnomAD v4 |
6 | g.131851327T>A | CA2680366357 | ENPP1 | c.556+60T>A (n.556+60T>A) c.234+60T>A c.108+1221T>A n.636T>A | gnomAD v4 |
6 | g.131851328A>G | CA2680366358 | ENPP1 | c.556+61A>G (n.556+61A>G) c.234+61A>G c.108+1222A>G n.637A>G | gnomAD v4 |
6 | g.131851329C>A | CA2680366359 | ENPP1 | c.556+62C>A (n.556+62C>A) c.234+62C>A c.108+1223C>A n.638C>A | gnomAD v4 |
6 | g.131851330A>G | CA2680366360 | ENPP1 | c.556+63A>G (n.556+63A>G) c.234+63A>G c.108+1224A>G n.639A>G | gnomAD v4 |
6 | g.131851330dup | CA2578742762 | ENPP1 | c.556+63dup (n.556+63dup) c.234+63dup c.108+1224dup n.639dup | |
6 | g.131851331T>A | CA2578742763 | ENPP1 | c.556+64T>A (n.556+64T>A) c.234+64T>A c.108+1225T>A n.640T>A | |
6 | g.131851331T>G | CA2680366361 | ENPP1 | c.556+64T>G (n.556+64T>G) c.234+64T>G c.108+1225T>G n.640T>G | gnomAD v4 |
6 | g.131851332_131851333delinsAG | CA1664253803 | ENPP1 | c.556+65_556+66delinsAG (n.556+65_556+66delinsAG) c.234+65_234+66delinsAG c.108+1226_108+1227delinsAG n.641_642delinsAG | |
6 | g.131851333G>C | CA147926627 | ENPP1 | c.556+66G>C (n.556+66G>C) c.234+66G>C c.108+1227G>C n.642G>C | dbSNP gnomAD v4 |
6 | g.131851333G= | CA1664253804 | ENPP1 | c.556+66G= (n.556+66G=) c.234+66G= c.108+1227G= n.642G= | |
6 | g.131851334del | CA819061925 | ENPP1 | c.556+67del (n.556+67del) c.234+67del c.108+1228del n.643del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851334G>C | CA147926642 | ENPP1 | c.556+67G>C (n.556+67G>C) c.234+67G>C c.108+1228G>C n.643G>C | dbSNP gnomAD v4 |
6 | g.131851334G= | CA1664253805 | ENPP1 | c.556+67G= (n.556+67G=) c.234+67G= c.108+1228G= n.643G= | |
6 | g.131851336G>A | CA2680366362 | ENPP1 | c.556+69G>A (n.556+69G>A) c.234+69G>A c.108+1230G>A n.645G>A | gnomAD v4 |
6 | g.131851336G= | CA1664253806 | ENPP1 | c.556+69G= (n.556+69G=) c.234+69G= c.108+1230G= n.645G= | |
6 | g.131851336G>T | CA1094555108 | ENPP1 | c.556+69G>T (n.556+69G>T) c.234+69G>T c.108+1230G>T n.645G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851339A= | CA1664253807 | ENPP1 | c.556+72A= (n.556+72A=) c.234+72A= c.108+1233A= n.648A= | |
6 | g.131851339A>T | CA819061929 | ENPP1 | c.556+72A>T (n.556+72A>T) c.234+72A>T c.108+1233A>T n.648A>T | dbSNP gnomAD v4 |
6 | g.131851341_131851359dup | CA2680366363 | ENPP1 | c.556+74_556+92dup (n.556+74_556+92dup) c.234+74_234+92dup c.108+1235_108+1253dup n.650_668dup | gnomAD v4 |
6 | g.131851340T>A | CA1094555126 | ENPP1 | c.556+73T>A (n.556+73T>A) c.234+73T>A c.108+1234T>A n.649T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851340T>C | CA1664253808 | ENPP1 | c.556+73T>C (n.556+73T>C) c.234+73T>C c.108+1234T>C n.649T>C | dbSNP gnomAD v4 |
6 | g.131851340T= | CA1664253809 | ENPP1 | c.556+73T= (n.556+73T=) c.234+73T= c.108+1234T= n.649T= | |
6 | g.131851341C>A | CA2680366364 | ENPP1 | c.556+74C>A (n.556+74C>A) c.234+74C>A c.108+1235C>A n.650C>A | gnomAD v4 |
6 | g.131851341C>G | CA2680366365 | ENPP1 | c.556+74C>G (n.556+74C>G) c.234+74C>G c.108+1235C>G n.650C>G | gnomAD v4 |
6 | g.131851342T>C | CA1094555131 | ENPP1 | c.556+75T>C (n.556+75T>C) c.234+75T>C c.108+1236T>C n.651T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851342T= | CA1664253810 | ENPP1 | c.556+75T= (n.556+75T=) c.234+75T= c.108+1236T= n.651T= | |
6 | g.131851343T>C | CA2773093477 | ENPP1 | c.556+76T>C (n.556+76T>C) c.234+76T>C c.108+1237T>C n.652T>C | |
6 | g.131851344T>C | CA1094555134 | ENPP1 | c.556+77T>C (n.556+77T>C) c.234+77T>C c.108+1238T>C n.653T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851344T= | CA1664253811 | ENPP1 | c.556+77T= (n.556+77T=) c.234+77T= c.108+1238T= n.653T= | |
6 | g.131851346A= | CA1664253812 | ENPP1 | c.556+79A= (n.556+79A=) c.234+79A= c.108+1240A= n.655A= | |
6 | g.131851346A>G | CA1664253813 | ENPP1 | c.556+79A>G (n.556+79A>G) c.234+79A>G c.108+1240A>G n.655A>G | dbSNP |
6 | g.131851348A= | CA1664253814 | ENPP1 | c.556+81A= (n.556+81A=) c.234+81A= c.108+1242A= n.657A= | |
6 | g.131851348A>G | CA147926648 | ENPP1 | c.556+81A>G (n.556+81A>G) c.234+81A>G c.108+1242A>G n.657A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851350T>G | CA147926654 | ENPP1 | c.556+83T>G (n.556+83T>G) c.234+83T>G c.108+1244T>G n.659T>G | dbSNP |
6 | g.131851350T= | CA1664253815 | ENPP1 | c.556+83T= (n.556+83T=) c.234+83T= c.108+1244T= n.659T= | |
6 | g.131851351A>T | CA2680366366 | ENPP1 | c.556+84A>T (n.556+84A>T) c.234+84A>T c.108+1245A>T n.660A>T | gnomAD v4 |
6 | g.131851352G>A | CA2680366367 | ENPP1 | c.556+85G>A (n.556+85G>A) c.234+85G>A c.108+1246G>A n.661G>A | gnomAD v4 |
6 | g.131851352G>C | CA147926655 | ENPP1 | c.556+85G>C (n.556+85G>C) c.234+85G>C c.108+1246G>C n.661G>C | dbSNP gnomAD v4 |
6 | g.131851352G= | CA1664253816 | ENPP1 | c.556+85G= (n.556+85G=) c.234+85G= c.108+1246G= n.661G= | |
6 | g.131851353G>A | CA819061934 | ENPP1 | c.556+86G>A (n.556+86G>A) c.234+86G>A c.108+1247G>A n.662G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851353G>C | CA1094555140 | ENPP1 | c.556+86G>C (n.556+86G>C) c.234+86G>C c.108+1247G>C n.662G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851353G= | CA1664253817 | ENPP1 | c.556+86G= (n.556+86G=) c.234+86G= c.108+1247G= n.662G= | |
6 | g.131851354A>G | CA2680366368 | ENPP1 | c.556+87A>G (n.556+87A>G) c.234+87A>G c.108+1248A>G n.663A>G | gnomAD v4 |
6 | g.131851355G>A | CA2680366369 | ENPP1 | c.556+88G>A (n.556+88G>A) c.234+88G>A c.108+1249G>A n.664G>A | gnomAD v4 |
6 | g.131851355G>T | CA2680366370 | ENPP1 | c.556+88G>T (n.556+88G>T) c.234+88G>T c.108+1249G>T n.664G>T | gnomAD v4 |
6 | g.131851357C>A | CA2680366371 | ENPP1 | c.556+90C>A (n.556+90C>A) c.234+90C>A c.108+1251C>A n.666C>A | gnomAD v4 |
6 | g.131851357C= | CA1664253818 | ENPP1 | c.556+90C= (n.556+90C=) c.234+90C= c.108+1251C= n.666C= | |
6 | g.131851357C>T | CA1664253819 | ENPP1 | c.556+90C>T (n.556+90C>T) c.234+90C>T c.108+1251C>T n.666C>T | dbSNP |
6 | g.131851358A>C | CA2578742764 | ENPP1 | c.556+91A>C (n.556+91A>C) c.234+91A>C c.108+1252A>C n.667A>C | |
6 | g.131851362C>A | CA2680366372 | ENPP1 | c.556+95C>A (n.556+95C>A) c.234+95C>A c.108+1256C>A n.671C>A | gnomAD v4 |
6 | g.131851363T>C | CA2773093479 | ENPP1 | c.556+96T>C (n.556+96T>C) c.234+96T>C c.108+1257T>C n.672T>C | |
6 | g.131851364A= | CA1664253820 | ENPP1 | c.556+97A= (n.556+97A=) c.234+97A= c.108+1258A= n.673A= | |
6 | g.131851364A>G | CA1094555143 | ENPP1 | c.556+97A>G (n.556+97A>G) c.234+97A>G c.108+1258A>G n.673A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851365T>C | CA2680366373 | ENPP1 | c.556+98T>C (n.556+98T>C) c.234+98T>C c.108+1259T>C n.674T>C | gnomAD v4 |
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 |