Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.162281473T>A | CA349002461 | IFIH1 | c.*976A>T (n.*976A>T) c.1379A>T (p.His460Leu) n.989A>T c.1067A>T (p.His356Leu) c.662A>T (p.His221Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.162281473T>C | CA1934538 | IFIH1 | c.*976A>G (n.*976A>G) c.1379A>G (p.His460Arg) n.989A>G c.1067A>G (p.His356Arg) c.662A>G (p.His221Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162281473T>G | CA349002462 | IFIH1 | c.*976A>C (n.*976A>C) c.1379A>C (p.His460Pro) n.989A>C c.1067A>C (p.His356Pro) c.662A>C (p.His221Pro) | |
2 | g.162281473T= | CA1303148731 | IFIH1 | c.*976A= (n.*976A=) c.1379A= (p.His460=) n.989A= c.1067A= (p.His356=) c.662A= (p.His221=) | |
2 | g.162281473_162281474delinsCA | CA2573133442 | IFIH1 | c.*975_*976delinsTG (n.*975_*976delinsTG) c.1378_1379delinsTG (p.His460Cys) n.988_989delinsTG c.1066_1067delinsTG (p.His356Cys) c.661_662delinsTG (p.His221Cys) | ClinVar |
2 | g.162281474G>A | CA1934539 | IFIH1 | c.*975C>T (n.*975C>T) c.1378C>T (p.His460Tyr) n.988C>T c.1066C>T (p.His356Tyr) c.661C>T (p.His221Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162281474G>C | CA349002464 | IFIH1 | c.*975C>G (n.*975C>G) c.1378C>G (p.His460Asp) n.988C>G c.1066C>G (p.His356Asp) c.661C>G (p.His221Asp) | |
2 | g.162281474G= | CA1303148735 | IFIH1 | c.*975C= (n.*975C=) c.1378C= (p.His460=) n.988C= c.1066C= (p.His356=) c.661C= (p.His221=) | |
2 | g.162281474G>T | CA349002463 | IFIH1 | c.*975C>A (n.*975C>A) c.1378C>A (p.His460Asn) n.988C>A c.1066C>A (p.His356Asn) c.661C>A (p.His221Asn) | |
2 | g.162281475C>A | CA349002465 | IFIH1 | c.*974G>T (n.*974G>T) c.1377G>T (p.Arg459Ser) n.987G>T c.1065G>T (p.Arg355Ser) c.660G>T (p.Arg220Ser) | gnomAD v4 |
2 | g.162281475C= | CA1303148737 | IFIH1 | c.*974G= (n.*974G=) c.1377G= (p.Arg459=) n.987G= c.1065G= (p.Arg355=) c.660G= (p.Arg220=) | |
2 | g.162281475C>G | CA349002466 | IFIH1 | c.*974G>C (n.*974G>C) c.1377G>C (p.Arg459Ser) n.987G>C c.1065G>C (p.Arg355Ser) c.660G>C (p.Arg220Ser) | |
2 | g.162281475C>T | CA1934540 | IFIH1 | c.*974G>A (n.*974G>A) c.1377G>A (p.Arg459=) n.987G>A c.1065G>A (p.Arg355=) c.660G>A (p.Arg220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162281476C>A | CA349002467 | IFIH1 | c.*973G>T (n.*973G>T) c.1376G>T (p.Arg459Met) n.986G>T c.1064G>T (p.Arg355Met) c.659G>T (p.Arg220Met) | |
2 | g.162281476C= | CA1303148739 | IFIH1 | c.*973G= (n.*973G=) c.1376G= (p.Arg459=) n.986G= c.1064G= (p.Arg355=) c.659G= (p.Arg220=) | |
2 | g.162281476C>G | CA349002468 | IFIH1 | c.*973G>C (n.*973G>C) c.1376G>C (p.Arg459Thr) n.986G>C c.1064G>C (p.Arg355Thr) c.659G>C (p.Arg220Thr) | |
2 | g.162281476C>T | CA59664928 | IFIH1 | c.*973G>A (n.*973G>A) c.1376G>A (p.Arg459Lys) n.986G>A c.1064G>A (p.Arg355Lys) c.659G>A (p.Arg220Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.162281477T>A | CA349002469 | IFIH1 | c.*972A>T (n.*972A>T) c.1375A>T (p.Arg459Trp) n.985A>T c.1063A>T (p.Arg355Trp) c.658A>T (p.Arg220Trp) | |
2 | g.162281477T>C | CA349002470 | IFIH1 | c.*972A>G (n.*972A>G) c.1375A>G (p.Arg459Gly) n.985A>G c.1063A>G (p.Arg355Gly) c.658A>G (p.Arg220Gly) | |
2 | g.162281477T>G | CA429535742 | IFIH1 | c.*972A>C (n.*972A>C) c.1375A>C (p.Arg459=) n.985A>C c.1063A>C (p.Arg355=) c.658A>C (p.Arg220=) | |
2 | g.162281478C>A | CA349002471 | IFIH1 | c.*971G>T (n.*971G>T) c.1374G>T (p.Met458Ile) n.984G>T c.1062G>T (p.Met354Ile) c.657G>T (p.Met219Ile) | |
2 | g.162281478C>G | CA349002472 | IFIH1 | c.*971G>C (n.*971G>C) c.1374G>C (p.Met458Ile) n.984G>C c.1062G>C (p.Met354Ile) c.657G>C (p.Met219Ile) | |
2 | g.162281478C>T | CA349002473 | IFIH1 | c.*971G>A (n.*971G>A) c.1374G>A (p.Met458Ile) n.984G>A c.1062G>A (p.Met354Ile) c.657G>A (p.Met219Ile) | gnomAD v4 |
2 | g.162281479A= | CA1303148741 | IFIH1 | c.*970T= (n.*970T=) c.1373T= (p.Met458=) n.983T= c.1061T= (p.Met354=) c.656T= (p.Met219=) | |
2 | g.162281479A>C | CA349002475 | IFIH1 | c.*970T>G (n.*970T>G) c.1373T>G (p.Met458Arg) n.983T>G c.1061T>G (p.Met354Arg) c.656T>G (p.Met219Arg) | |
2 | g.162281479A>G | CA1934541 | IFIH1 | c.*970T>C (n.*970T>C) c.1373T>C (p.Met458Thr) n.983T>C c.1061T>C (p.Met354Thr) c.656T>C (p.Met219Thr) | dbSNP ExAC gnomAD v2 |
2 | g.162281479A>T | CA349002474 | IFIH1 | c.*970T>A (n.*970T>A) c.1373T>A (p.Met458Lys) n.983T>A c.1061T>A (p.Met354Lys) c.656T>A (p.Met219Lys) | |
2 | g.162281480T>A | CA349002476 | IFIH1 | c.*969A>T (n.*969A>T) c.1372A>T (p.Met458Leu) n.982A>T c.1060A>T (p.Met354Leu) c.655A>T (p.Met219Leu) | |
2 | g.162281480T>C | CA349002477 | IFIH1 | c.*969A>G (n.*969A>G) c.1372A>G (p.Met458Val) n.982A>G c.1060A>G (p.Met354Val) c.655A>G (p.Met219Val) | gnomAD v4 |
2 | g.162281480T>G | CA349002478 | IFIH1 | c.*969A>C (n.*969A>C) c.1372A>C (p.Met458Leu) n.982A>C c.1060A>C (p.Met354Leu) c.655A>C (p.Met219Leu) | |
2 | g.162281481G>A | CA429535743 | IFIH1 | c.*968C>T (n.*968C>T) c.1371C>T (p.Ile457=) n.981C>T c.1059C>T (p.Ile353=) c.654C>T (p.Ile218=) | |
2 | g.162281481G>C | CA349002479 | IFIH1 | c.*968C>G (n.*968C>G) c.1371C>G (p.Ile457Met) n.981C>G c.1059C>G (p.Ile353Met) c.654C>G (p.Ile218Met) | |
2 | g.162281481G>T | CA429535744 | IFIH1 | c.*968C>A (n.*968C>A) c.1371C>A (p.Ile457=) n.981C>A c.1059C>A (p.Ile353=) c.654C>A (p.Ile218=) | |
2 | g.162281482A>C | CA349002480 | IFIH1 | c.*967T>G (n.*967T>G) c.1370T>G (p.Ile457Ser) n.980T>G c.1058T>G (p.Ile353Ser) c.653T>G (p.Ile218Ser) | |
2 | g.162281482A>G | CA349002481 | IFIH1 | c.*967T>C (n.*967T>C) c.1370T>C (p.Ile457Thr) n.980T>C c.1058T>C (p.Ile353Thr) c.653T>C (p.Ile218Thr) | gnomAD v4 |
2 | g.162281482A>T | CA349002482 | IFIH1 | c.*967T>A (n.*967T>A) c.1370T>A (p.Ile457Asn) n.980T>A c.1058T>A (p.Ile353Asn) c.653T>A (p.Ile218Asn) | |
2 | g.162281483T>A | CA349002483 | IFIH1 | c.*966A>T (n.*966A>T) c.1369A>T (p.Ile457Phe) n.979A>T c.1057A>T (p.Ile353Phe) c.652A>T (p.Ile218Phe) | |
2 | g.162281483T>C | CA349002484 | IFIH1 | c.*966A>G (n.*966A>G) c.1369A>G (p.Ile457Val) n.979A>G c.1057A>G (p.Ile353Val) c.652A>G (p.Ile218Val) | |
2 | g.162281483T>G | CA349002485 | IFIH1 | c.*966A>C (n.*966A>C) c.1369A>C (p.Ile457Leu) n.979A>C c.1057A>C (p.Ile353Leu) c.652A>C (p.Ile218Leu) | |
2 | g.162281484G>A | CA429535745 | IFIH1 | c.*965C>T (n.*965C>T) c.1368C>T (p.Asn456=) n.978C>T c.1056C>T (p.Asn352=) c.651C>T (p.Asn217=) | ClinVar dbSNP |
2 | g.162281484G>C | CA349002486 | IFIH1 | c.*965C>G (n.*965C>G) c.1368C>G (p.Asn456Lys) n.978C>G c.1056C>G (p.Asn352Lys) c.651C>G (p.Asn217Lys) | ClinVar dbSNP |
2 | g.162281484G= | CA1303148743 | IFIH1 | c.*965C= (n.*965C=) c.1368C= (p.Asn456=) n.978C= c.1056C= (p.Asn352=) c.651C= (p.Asn217=) | |
2 | g.162281484G>T | CA349002487 | IFIH1 | c.*965C>A (n.*965C>A) c.1368C>A (p.Asn456Lys) n.978C>A c.1056C>A (p.Asn352Lys) c.651C>A (p.Asn217Lys) | |
2 | g.162281485T>A | CA349002490 | IFIH1 | c.*964A>T (n.*964A>T) c.1367A>T (p.Asn456Ile) n.977A>T c.1055A>T (p.Asn352Ile) c.650A>T (p.Asn217Ile) | |
2 | g.162281485T>C | CA349002489 | IFIH1 | c.*964A>G (n.*964A>G) c.1367A>G (p.Asn456Ser) n.977A>G c.1055A>G (p.Asn352Ser) c.650A>G (p.Asn217Ser) | |
2 | g.162281485T>G | CA349002488 | IFIH1 | c.*964A>C (n.*964A>C) c.1367A>C (p.Asn456Thr) n.977A>C c.1055A>C (p.Asn352Thr) c.650A>C (p.Asn217Thr) | |
2 | g.162281489_162281491del | CA2580614373 | IFIH1 | c.*962_*964del (n.*962_*964del) c.1365_1367del (p.Asn456del) n.975_977del c.1053_1055del (p.Asn352del) c.648_650del (p.Asn217del) | ClinVar gnomAD v4 |
2 | g.162281486T>A | CA349002491 | IFIH1 | c.*963A>T (n.*963A>T) c.1366A>T (p.Asn456Tyr) n.976A>T c.1054A>T (p.Asn352Tyr) c.649A>T (p.Asn217Tyr) | |
2 | g.162281486T>C | CA349002493 | IFIH1 | c.*963A>G (n.*963A>G) c.1366A>G (p.Asn456Asp) n.976A>G c.1054A>G (p.Asn352Asp) c.649A>G (p.Asn217Asp) | |
2 | g.162281486T>G | CA349002492 | IFIH1 | c.*963A>C (n.*963A>C) c.1366A>C (p.Asn456His) n.976A>C c.1054A>C (p.Asn352His) c.649A>C (p.Asn217His) |