Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.131851246A>C | CA365662260 | ENPP1 | c.535A>C (p.Asn179His) c.213A>C c.108+1140A>C n.555A>C | |
6 | g.131851246A>G | CA365662253 | ENPP1 | c.535A>G (p.Asn179Asp) c.213A>G c.108+1140A>G n.555A>G | gnomAD v4 |
6 | g.131851246A>T | CA365662256 | ENPP1 | c.535A>T (p.Asn179Tyr) c.213A>T c.108+1140A>T n.555A>T | |
6 | g.131851247A= | CA1664253762 | ENPP1 | c.536A= (p.Asn179=) c.214A= c.108+1141A= n.556A= | |
6 | g.131851247A>C | CA365662261 | ENPP1 | c.536A>C (p.Asn179Thr) c.214A>C c.108+1141A>C n.556A>C | gnomAD v4 |
6 | g.131851247A>G | CA4001923 | ENPP1 | c.536A>G (p.Asn179Ser) c.214A>G c.108+1141A>G n.556A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851247A>T | CA365662262 | ENPP1 | c.536A>T (p.Asn179Ile) c.214A>T c.108+1141A>T n.556A>T | |
6 | g.131851248C>A | CA365662263 | ENPP1 | c.537C>A (p.Asn179Lys) c.215C>A c.108+1142C>A n.557C>A | |
6 | g.131851248C>G | CA365662264 | ENPP1 | c.537C>G (p.Asn179Lys) c.215C>G c.108+1142C>G n.557C>G | |
6 | g.131851248C>T | CA452154660 | ENPP1 | c.537C>T (p.Asn179=) c.215C>T c.108+1142C>T n.557C>T | |
6 | g.131851249T>A | CA365662275 | ENPP1 | c.538T>A (p.Tyr180Asn) c.216T>A c.108+1143T>A n.558T>A | |
6 | g.131851249T>C | CA365662270 | ENPP1 | c.538T>C (p.Tyr180His) c.216T>C c.108+1143T>C n.558T>C | |
6 | g.131851249T>G | CA365662273 | ENPP1 | c.538T>G (p.Tyr180Asp) c.216T>G c.108+1143T>G n.558T>G | |
6 | g.131851250A>C | CA365662277 | ENPP1 | c.539A>C (p.Tyr180Ser) c.217A>C c.108+1144A>C n.559A>C | |
6 | g.131851250A>G | CA365662278 | ENPP1 | c.539A>G (p.Tyr180Cys) c.217A>G c.108+1144A>G n.559A>G | |
6 | g.131851250A>T | CA365662279 | ENPP1 | c.539A>T (p.Tyr180Phe) c.217A>T c.108+1144A>T n.559A>T | |
6 | g.131851251C>A | CA365662281 | ENPP1 | c.540C>A (p.Tyr180Ter) c.218C>A c.108+1145C>A n.560C>A | |
6 | g.131851251C= | CA1664253763 | ENPP1 | c.540C= (p.Tyr180=) c.218C= c.108+1145C= n.560C= | |
6 | g.131851251C>G | CA365662284 | ENPP1 | c.540C>G (p.Tyr180Ter) c.218C>G c.108+1145C>G n.560C>G | |
6 | g.131851251C>T | CA452154664 | ENPP1 | c.540C>T (p.Tyr180=) c.218C>T c.108+1145C>T n.560C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851252A>C | CA365662291 | ENPP1 | c.541A>C (p.Ser181Arg) c.219A>C c.108+1146A>C n.561A>C | |
6 | g.131851252A>G | CA365662308 | ENPP1 | c.541A>G (p.Ser181Gly) c.219A>G c.108+1146A>G n.561A>G | |
6 | g.131851252A>T | CA365662297 | ENPP1 | c.541A>T (p.Ser181Cys) c.219A>T c.108+1146A>T n.561A>T | |
6 | g.131851253G>A | CA365662312 | ENPP1 | c.542G>A (p.Ser181Asn) c.220G>A c.108+1147G>A n.562G>A | |
6 | g.131851253G>C | CA365662314 | ENPP1 | c.542G>C (p.Ser181Thr) c.220G>C c.108+1147G>C n.562G>C | |
6 | g.131851253G>T | CA365662317 | ENPP1 | c.542G>T (p.Ser181Ile) c.220G>T c.108+1147G>T n.562G>T | |
6 | g.131851254T>A | CA365662326 | ENPP1 | c.543T>A (p.Ser181Arg) c.221T>A c.108+1148T>A n.563T>A | |
6 | g.131851254T>C | CA452154668 | ENPP1 | c.543T>C (p.Ser181=) c.221T>C c.108+1148T>C n.563T>C | gnomAD v4 COSMIC |
6 | g.131851254T>G | CA365662328 | ENPP1 | c.543T>G (p.Ser181Arg) c.221T>G c.108+1148T>G n.563T>G | |
6 | g.131851255T>A | CA365662329 | ENPP1 | c.544T>A (p.Ser182Thr) c.222T>A c.108+1149T>A n.564T>A | |
6 | g.131851255T>C | CA365662330 | ENPP1 | c.544T>C (p.Ser182Pro) c.222T>C c.108+1149T>C n.564T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851255T>G | CA365662332 | ENPP1 | c.544T>G (p.Ser182Ala) c.222T>G c.108+1149T>G n.564T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.131851255T= | CA1664253764 | ENPP1 | c.544T= (p.Ser182=) c.222T= c.108+1149T= n.564T= | |
6 | g.131851256C>A | CA365662340 | ENPP1 | c.545C>A (p.Ser182Tyr) c.223C>A c.108+1150C>A n.565C>A | |
6 | g.131851256C= | CA1664253765 | ENPP1 | c.545C= (p.Ser182=) c.223C= c.108+1150C= n.565C= | |
6 | g.131851256C>G | CA365662341 | ENPP1 | c.545C>G (p.Ser182Cys) c.223C>G c.108+1150C>G n.565C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851256C>T | CA365662344 | ENPP1 | c.545C>T (p.Ser182Phe) c.223C>T c.108+1150C>T n.565C>T | gnomAD v4 |
6 | g.131851257T>A | CA452154670 | ENPP1 | c.546T>A (p.Ser182=) c.224T>A c.108+1151T>A n.566T>A | |
6 | g.131851257T>C | CA4001924 | ENPP1 | c.546T>C (p.Ser182=) c.224T>C c.108+1151T>C n.566T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851257T>G | CA452154673 | ENPP1 | c.546T>G (p.Ser182=) c.224T>G c.108+1151T>G n.566T>G | |
6 | g.131851257T= | CA1664253766 | ENPP1 | c.546T= (p.Ser182=) c.224T= c.108+1151T= n.566T= | |
6 | g.131851258G>A | CA365662350 | ENPP1 | c.547G>A (p.Val183Met) c.225G>A c.108+1152G>A n.567G>A | gnomAD v4 |
6 | g.131851258G>C | CA365662355 | ENPP1 | c.547G>C (p.Val183Leu) c.225G>C c.108+1152G>C n.567G>C | |
6 | g.131851258G>T | CA365662353 | ENPP1 | c.547G>T (p.Val183Leu) c.225G>T c.108+1152G>T n.567G>T | |
6 | g.131851259T>A | CA365662359 | ENPP1 | c.548T>A (p.Val183Glu) c.226T>A c.108+1153T>A n.568T>A | |
6 | g.131851259T>C | CA365662363 | ENPP1 | c.548T>C (p.Val183Ala) c.226T>C c.108+1153T>C n.568T>C | |
6 | g.131851259T>G | CA365662366 | ENPP1 | c.548T>G (p.Val183Gly) c.226T>G c.108+1153T>G n.568T>G | |
6 | g.131851260G>A | CA452154678 | ENPP1 | c.549G>A (p.Val183=) c.227G>A c.108+1154G>A n.569G>A | |
6 | g.131851260G>C | CA452154679 | ENPP1 | c.549G>C (p.Val183=) c.227G>C c.108+1154G>C n.569G>C | |
6 | g.131851260G>T | CA452154680 | ENPP1 | c.549G>T (p.Val183=) c.227G>T c.108+1154G>T n.569G>T | |
6 | g.131851261T>A | CA365662371 | ENPP1 | c.550T>A (p.Cys184Ser) c.228T>A c.108+1155T>A n.570T>A | |
6 | g.131851261T>C | CA365662373 | ENPP1 | c.550T>C (p.Cys184Arg) c.228T>C c.108+1155T>C n.570T>C | |
6 | g.131851261T>G | CA365662375 | ENPP1 | c.550T>G (p.Cys184Gly) c.228T>G c.108+1155T>G n.570T>G | |
6 | g.131851261T= | CA1664253767 | ENPP1 | c.550T= (p.Cys184=) c.228T= c.108+1155T= n.570T= | |
6 | g.131851262G>A | CA365662379 | ENPP1 | c.551G>A (p.Cys184Tyr) c.229G>A c.108+1156G>A n.571G>A | dbSNP gnomAD v2 |
6 | g.131851262G>C | CA365662382 | ENPP1 | c.551G>C (p.Cys184Ser) c.229G>C c.108+1156G>C n.571G>C | |
6 | g.131851262G= | CA1664253768 | ENPP1 | c.551G= (p.Cys184=) c.229G= c.108+1156G= n.571G= | |
6 | g.131851262G>T | CA365662385 | ENPP1 | c.551G>T (p.Cys184Phe) c.229G>T c.108+1156G>T n.571G>T | COSMIC |
6 | g.131851262dup | CA4001925 | ENPP1 | c.551dup (p.Cys184TrpfsTer4) c.229dup c.108+1156dup n.571dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851263T>A | CA365662386 | ENPP1 | c.552T>A (p.Cys184Ter) c.230T>A c.108+1157T>A n.572T>A | |
6 | g.131851263T>C | CA452154685 | ENPP1 | c.552T>C (p.Cys184=) c.230T>C c.108+1157T>C n.572T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851263T>G | CA365662387 | ENPP1 | c.552T>G (p.Cys184Trp) c.230T>G c.108+1157T>G n.572T>G | |
6 | g.131851263T= | CA1664253769 | ENPP1 | c.552T= (p.Cys184=) c.230T= c.108+1157T= n.572T= | |
6 | g.131851264C>A | CA365662396 | ENPP1 | c.553C>A (p.Gln185Lys) c.231C>A c.108+1158C>A n.573C>A | |
6 | g.131851264C= | CA1664253770 | ENPP1 | c.553C= (p.Gln185=) c.231C= c.108+1158C= n.573C= | |
6 | g.131851264C>G | CA365662388 | ENPP1 | c.553C>G (p.Gln185Glu) c.231C>G c.108+1158C>G n.573C>G | dbSNP |
6 | g.131851264C>T | CA365662392 | ENPP1 | c.553C>T (p.Gln185Ter) c.231C>T c.108+1158C>T n.573C>T | dbSNP |
6 | g.131851265A>C | CA365662397 | ENPP1 | c.554A>C (p.Gln185Pro) c.232A>C c.108+1159A>C n.574A>C | gnomAD v4 |
6 | g.131851265A>G | CA365662398 | ENPP1 | c.554A>G (p.Gln185Arg) c.232A>G c.108+1159A>G n.574A>G | |
6 | g.131851265A>T | CA365662399 | ENPP1 | c.554A>T (p.Gln185Leu) c.232A>T c.108+1159A>T n.574A>T | |
6 | g.131851266A= | CA1664253771 | ENPP1 | c.555A= (p.Gln185=) c.233A= c.108+1160A= n.575A= | |
6 | g.131851266A>C | CA365662401 | ENPP1 | c.555A>C (p.Gln185His) c.233A>C c.108+1160A>C n.575A>C | |
6 | g.131851266A>G | CA4001926 | ENPP1 | c.555A>G (p.Gln185=) c.233A>G c.108+1160A>G n.575A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851266A>T | CA365662408 | ENPP1 | c.555A>T (p.Gln185His) c.233A>T c.108+1160A>T n.575A>T | |
6 | g.131851266_131851267insATTCAACA | CA2531279804 | ENPP1 | c.555_556insATTCAACA (p.Gly186IlefsTer9) c.233_234insATTCAACA c.108+1160_108+1161insATTCAACA n.575_576insATTCAACA | |
6 | g.131851267G>A | CA365662411 | ENPP1 | c.556G>A (p.Gly186Ser) c.234G>A c.108+1161G>A n.576G>A | COSMIC COSMIC |
6 | g.131851267G>C | CA365662413 | ENPP1 | c.556G>C (p.Gly186Arg) c.234G>C c.108+1161G>C n.576G>C | ClinVar dbSNP gnomAD v4 |
6 | g.131851267G= | CA1664253772 | ENPP1 | c.556G= (p.Gly186=) c.234G= c.108+1161G= n.576G= | |
6 | g.131851267G>T | CA365662416 | ENPP1 | c.556G>T (p.Gly186Cys) c.234G>T c.108+1161G>T n.576G>T | |
6 | g.131851268G>A | CA365662423 | ENPP1 | c.556+1G>A (n.556+1G>A) c.234+1G>A c.108+1162G>A n.577G>A | |
6 | g.131851268G>C | CA365662426 | ENPP1 | c.556+1G>C (n.556+1G>C) c.234+1G>C c.108+1162G>C n.577G>C | |
6 | g.131851268G>T | CA365662429 | ENPP1 | c.556+1G>T (n.556+1G>T) c.234+1G>T c.108+1162G>T n.577G>T | |
6 | g.131851269T>A | CA365662439 | ENPP1 | c.556+2T>A (n.556+2T>A) c.234+2T>A c.108+1163T>A n.578T>A | |
6 | g.131851269T>C | CA365662442 | ENPP1 | c.556+2T>C (n.556+2T>C) c.234+2T>C c.108+1163T>C n.578T>C | gnomAD v4 |
6 | g.131851269T>G | CA365662433 | ENPP1 | c.556+2T>G (n.556+2T>G) c.234+2T>G c.108+1163T>G n.578T>G | ClinVar gnomAD v4 |
6 | g.131851270C= | CA1664253773 | ENPP1 | c.556+3C= (n.556+3C=) c.234+3C= c.108+1164C= n.579C= | |
6 | g.131851270C>G | CA1664253774 | ENPP1 | c.556+3C>G (n.556+3C>G) c.234+3C>G c.108+1164C>G n.579C>G | dbSNP |
6 | g.131851270C>T | CA570097329 | ENPP1 | c.556+3C>T (n.556+3C>T) c.234+3C>T c.108+1164C>T n.579C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.131851271A>G | CA2680366338 | ENPP1 | c.556+4A>G (n.556+4A>G) c.234+4A>G c.108+1165A>G n.580A>G | gnomAD v4 |
6 | g.131851272G>C | CA147926433 | ENPP1 | c.556+5G>C (n.556+5G>C) c.234+5G>C c.108+1166G>C n.581G>C | dbSNP |
6 | g.131851272G= | CA1664253775 | ENPP1 | c.556+5G= (n.556+5G=) c.234+5G= c.108+1166G= n.581G= | |
6 | g.131851273G>C | CA147926435 | ENPP1 | c.556+6G>C (n.556+6G>C) c.234+6G>C c.108+1167G>C n.582G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851273G= | CA1664253776 | ENPP1 | c.556+6G= (n.556+6G=) c.234+6G= c.108+1167G= n.582G= | |
6 | g.131851274T>A | CA147926436 | ENPP1 | c.556+7T>A (n.556+7T>A) c.234+7T>A c.108+1168T>A n.583T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851274T>C | CA1094555077 | ENPP1 | c.556+7T>C (n.556+7T>C) c.234+7T>C c.108+1168T>C n.583T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851274T= | CA1664253777 | ENPP1 | c.556+7T= (n.556+7T=) c.234+7T= c.108+1168T= n.583T= | |
6 | g.131851275G>A | CA570097330 | ENPP1 | c.556+8G>A (n.556+8G>A) c.234+8G>A c.108+1169G>A n.584G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.131851275G>C | CA4001927 | ENPP1 | c.556+8G>C (n.556+8G>C) c.234+8G>C c.108+1169G>C n.584G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851275G= | CA1664253778 | ENPP1 | c.556+8G= (n.556+8G=) c.234+8G= c.108+1169G= n.584G= | |
6 | g.131851275G>T | CA4001928 | ENPP1 | c.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 |
6 | g.131851276C>T | CA2680366339 | ENPP1 | c.556+9C>T (n.556+9C>T) c.234+9C>T c.108+1170C>T n.585C>T | gnomAD v4 |
6 | g.131851277T>C | CA570097331 | ENPP1 | c.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 |
6 | g.131851277T= | CA1664253779 | ENPP1 | c.556+10T= (n.556+10T=) c.234+10T= c.108+1171T= n.586T= | |
6 | g.131851278C>A | CA2680366340 | ENPP1 | c.556+11C>A (n.556+11C>A) c.234+11C>A c.108+1172C>A n.587C>A | gnomAD v4 |
6 | g.131851278C= | CA1664253780 | ENPP1 | c.556+11C= (n.556+11C=) c.234+11C= c.108+1172C= n.587C= | |
6 | g.131851278C>G | CA2842579274 | ENPP1 | c.556+11C>G (n.556+11C>G) c.234+11C>G c.108+1172C>G n.587C>G | |
6 | g.131851278C>T | CA4001929 | ENPP1 | c.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 |
6 | g.131851279G>A | CA4001930 | ENPP1 | c.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 |
6 | g.131851279G= | CA1664253781 | ENPP1 | c.556+12G= (n.556+12G=) c.234+12G= c.108+1173G= n.588G= | |
6 | g.131851279G>T | CA2680366341 | ENPP1 | c.556+12G>T (n.556+12G>T) c.234+12G>T c.108+1173G>T n.588G>T | gnomAD v4 |
6 | g.131851280T>C | CA4001931 | ENPP1 | c.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 |
6 | g.131851280T= | CA1664253782 | ENPP1 | c.556+13T= (n.556+13T=) c.234+13T= c.108+1174T= n.589T= | |
6 | g.131851281T>C | CA2842579275 | ENPP1 | c.556+14T>C (n.556+14T>C) c.234+14T>C c.108+1175T>C n.590T>C | |
6 | g.131851283G>A | CA2773093465 | ENPP1 | c.556+16G>A (n.556+16G>A) c.234+16G>A c.108+1177G>A n.592G>A | |
6 | g.131851283G>C | CA2680366342 | ENPP1 | c.556+16G>C (n.556+16G>C) c.234+16G>C c.108+1177G>C n.592G>C | gnomAD v4 |
6 | g.131851283G>T | CA2839463749 | ENPP1 | c.556+16G>T (n.556+16G>T) c.234+16G>T c.108+1177G>T n.592G>T | |
6 | g.131851284G= | CA1664253783 | ENPP1 | c.556+17G= (n.556+17G=) c.234+17G= c.108+1178G= n.593G= | |
6 | g.131851284G>T | CA4001932 | ENPP1 | c.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 |
6 | g.131851285C= | CA1664253784 | ENPP1 | c.556+18C= (n.556+18C=) c.234+18C= c.108+1179C= n.594C= | |
6 | g.131851285C>G | CA4001933 | ENPP1 | c.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 |
6 | g.131851285C>T | CA147926538 | ENPP1 | c.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 |
6 | g.131851286T>C | CA4001934 | ENPP1 | c.556+19T>C (n.556+19T>C) c.234+19T>C c.108+1180T>C n.595T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851286T= | CA1664253785 | ENPP1 | c.556+19T= (n.556+19T=) c.234+19T= c.108+1180T= n.595T= | |
6 | g.131851287C>A | CA4001935 | ENPP1 | c.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 |
6 | g.131851287C= | CA1664253786 | ENPP1 | c.556+20C= (n.556+20C=) c.234+20C= c.108+1181C= n.596C= | |
6 | g.131851288T>C | CA4001936 | ENPP1 | c.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 |
6 | g.131851288T= | CA1664253787 | ENPP1 | c.556+21T= (n.556+21T=) c.234+21T= c.108+1182T= n.597T= | |
6 | g.131851289G>A | CA4001937 | ENPP1 | c.556+22G>A (n.556+22G>A) c.234+22G>A c.108+1183G>A n.598G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.131851289G= | CA1664253788 | ENPP1 | c.556+22G= (n.556+22G=) c.234+22G= c.108+1183G= n.598G= | |
6 | g.131851294_131851296del | CA2680366343 | ENPP1 | c.556+27_556+29del (n.556+27_556+29del) c.234+27_234+29del c.108+1188_108+1190del n.603_605del | gnomAD v4 |
6 | g.131851290C>T | CA2680366344 | ENPP1 | c.556+23C>T (n.556+23C>T) c.234+23C>T c.108+1184C>T n.599C>T | dbSNP gnomAD v4 |
6 | g.131851291A= | CA1664253789 | ENPP1 | c.556+24A= (n.556+24A=) c.234+24A= c.108+1185A= n.600A= | |
6 | g.131851291A>G | CA4001938 | ENPP1 | c.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 |
6 | g.131851292G>A | CA4001939 | ENPP1 | c.556+25G>A (n.556+25G>A) c.234+25G>A c.108+1186G>A n.601G>A | dbSNP ExAC gnomAD v2 |
6 | g.131851292G= | CA1664253790 | ENPP1 | c.556+25G= (n.556+25G=) c.234+25G= c.108+1186G= n.601G= | |
6 | g.131851293C>T | CA2680366345 | ENPP1 | c.556+26C>T (n.556+26C>T) c.234+26C>T c.108+1187C>T n.602C>T | gnomAD v4 |
6 | g.131851295G>A | CA2842579276 | ENPP1 | c.556+28G>A (n.556+28G>A) c.234+28G>A c.108+1189G>A n.604G>A | |
6 | g.131851295G= | CA1664253791 | ENPP1 | c.556+28G= (n.556+28G=) c.234+28G= c.108+1189G= n.604G= | |
6 | g.131851295G>T | CA1664253792 | ENPP1 | c.556+28G>T (n.556+28G>T) c.234+28G>T c.108+1189G>T n.604G>T | dbSNP gnomAD v4 |
6 | g.131851296C>G | CA2773093470 | ENPP1 | c.556+29C>G (n.556+29C>G) c.234+29C>G c.108+1190C>G n.605C>G | |
6 | g.131851296C>T | CA2773093471 | ENPP1 | c.556+29C>T (n.556+29C>T) c.234+29C>T c.108+1190C>T n.605C>T | |
6 | g.131851297C= | CA1664253793 | ENPP1 | c.556+30C= (n.556+30C=) c.234+30C= c.108+1191C= n.606C= | |
6 | g.131851297C>G | CA1664253794 | ENPP1 | c.556+30C>G (n.556+30C>G) c.234+30C>G c.108+1191C>G n.606C>G | dbSNP gnomAD v4 |
6 | g.131851297C>T | CA4001940 | ENPP1 | c.556+30C>T (n.556+30C>T) c.234+30C>T c.108+1191C>T n.606C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851298T>A | CA2773093472 | ENPP1 | c.556+31T>A (n.556+31T>A) c.234+31T>A c.108+1192T>A n.607T>A | |
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.131851308del | CA2842579277 | ENPP1 | c.556+41del (n.556+41del) c.234+41del c.108+1202del n.617del | |
6 | g.131851308C>A | CA2842579278 | ENPP1 | c.556+41C>A (n.556+41C>A) c.234+41C>A c.108+1202C>A n.617C>A | |
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.131851323G>T | CA2839463750 | ENPP1 | c.556+56G>T (n.556+56G>T) c.234+56G>T c.108+1217G>T n.632G>T | |
6 | g.131851324dup | CA2842579279 | ENPP1 | c.556+57dup (n.556+57dup) c.234+57dup c.108+1218dup n.633dup | |
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 |