Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.149482940_149483166del | CA2695236488 | IDS | c.1234_1460del (p.Gly412HisfsTer11) c.601_827del (p.Gly201HisfsTer11) c.964_1190del (p.Gly322HisfsTer11) | |
X | g.149482949_149483122del | CA2580101611 | IDS | c.1277_1450del (p.Ser426_Asp484delinsTyr) c.644_817del (p.Ser215_Asp273delinsTyr) c.1007_1180del (p.Ser336_Asp394delinsTyr) | ClinVar |
X | g.149483096_149483104del | CA2695236518 | IDS | c.1298_1306del (p.Arg433_Gly435del) c.665_673del (p.Arg222_Gly224del) n.405_413del c.1028_1036del (p.Arg343_Gly345del) | |
X | g.149483102_149483106dup | CA2695236519 | IDS | c.1294_1298dup (p.Arg433SerfsTer9) c.661_665dup (p.Arg222SerfsTer9) n.401_405dup c.1024_1028dup (p.Arg343SerfsTer9) | |
X | g.149483104C>A | CA414518402 | IDS | c.1295G>T (p.Cys432Phe) c.662G>T (p.Cys221Phe) n.402G>T c.1025G>T (p.Cys342Phe) | ClinVar |
X | g.149483104C>G | CA414518403 | IDS | c.1295G>C (p.Cys432Ser) c.662G>C (p.Cys221Ser) n.402G>C c.1025G>C (p.Cys342Ser) | |
X | g.149483104C>T | CA414518404 | IDS | c.1295G>A (p.Cys432Tyr) c.662G>A (p.Cys221Tyr) n.402G>A c.1025G>A (p.Cys342Tyr) | |
X | g.149483106_149483107dup | CA2695236520 | IDS | c.1294_1295dup (p.Arg433AlafsTer8) c.661_662dup (p.Arg222AlafsTer8) n.401_402dup c.1024_1025dup (p.Arg343AlafsTer8) | |
X | g.149483105A>C | CA414518405 | IDS | c.1294T>G (p.Cys432Gly) c.661T>G (p.Cys221Gly) n.401T>G c.1024T>G (p.Cys342Gly) | |
X | g.149483105A>G | CA414518406 | IDS | c.1294T>C (p.Cys432Arg) c.661T>C (p.Cys221Arg) n.401T>C c.1024T>C (p.Cys342Arg) | |
X | g.149483105A>T | CA414518407 | IDS | c.1294T>A (p.Cys432Ser) c.661T>A (p.Cys221Ser) n.401T>A c.1024T>A (p.Cys342Ser) | |
X | g.149483106C>A | CA519174032 | IDS | c.1293G>T (p.Leu431=) c.660G>T (p.Leu220=) n.400G>T c.1023G>T (p.Leu341=) | |
X | g.149483106C= | CA2465004050 | IDS | c.1293G= (p.Leu431=) c.660G= (p.Leu220=) n.400G= c.1023G= (p.Leu341=) | |
X | g.149483106C>G | CA10537463 | IDS | c.1293G>C (p.Leu431=) c.660G>C (p.Leu220=) n.400G>C c.1023G>C (p.Leu341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149483106C>T | CA519174033 | IDS | c.1293G>A (p.Leu431=) c.660G>A (p.Leu220=) n.400G>A c.1023G>A (p.Leu341=) | ClinVar dbSNP gnomAD v4 |
X | g.149483107A>C | CA414518408 | IDS | c.1292T>G (p.Leu431Arg) c.659T>G (p.Leu220Arg) n.399T>G c.1022T>G (p.Leu341Arg) | |
X | g.149483107A>G | CA414518409 | IDS | c.1292T>C (p.Leu431Pro) c.659T>C (p.Leu220Pro) n.399T>C c.1022T>C (p.Leu341Pro) | |
X | g.149483107A>T | CA414518410 | IDS | c.1292T>A (p.Leu431Gln) c.659T>A (p.Leu220Gln) n.399T>A c.1022T>A (p.Leu341Gln) | |
X | g.149483108G>A | CA519174037 | IDS | c.1291C>T (p.Leu431=) c.658C>T (p.Leu220=) n.398C>T c.1021C>T (p.Leu341=) | |
X | g.149483108G>C | CA414518411 | IDS | c.1291C>G (p.Leu431Val) c.658C>G (p.Leu220Val) n.398C>G c.1021C>G (p.Leu341Val) | |
X | g.149483108G>T | CA414518412 | IDS | c.1291C>A (p.Leu431Met) c.658C>A (p.Leu220Met) n.398C>A c.1021C>A (p.Leu341Met) | |
X | g.149483109C>A | CA414518414 | IDS | c.1290G>T (p.Glu430Asp) c.657G>T (p.Glu219Asp) n.397G>T c.1020G>T (p.Glu340Asp) | |
X | g.149483109C= | CA2465004051 | IDS | c.1290G= (p.Glu430=) c.657G= (p.Glu219=) n.397G= c.1020G= (p.Glu340=) | |
X | g.149483109C>G | CA414518413 | IDS | c.1290G>C (p.Glu430Asp) c.657G>C (p.Glu219Asp) n.397G>C c.1020G>C (p.Glu340Asp) | |
X | g.149483109C>T | CA10537464 | IDS | c.1290G>A (p.Glu430=) c.657G>A (p.Glu219=) n.397G>A c.1020G>A (p.Glu340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483110T>A | CA414518415 | IDS | c.1289A>T (p.Glu430Val) c.656A>T (p.Glu219Val) n.396A>T c.1019A>T (p.Glu340Val) | |
X | g.149483110T>C | CA414518416 | IDS | c.1289A>G (p.Glu430Gly) c.656A>G (p.Glu219Gly) n.396A>G c.1019A>G (p.Glu340Gly) | |
X | g.149483110T>G | CA414518417 | IDS | c.1289A>C (p.Glu430Ala) c.656A>C (p.Glu219Ala) n.396A>C c.1019A>C (p.Glu340Ala) | |
X | g.149483111C>A | CA414518418 | IDS | c.1288G>T (p.Glu430Ter) c.655G>T (p.Glu219Ter) n.395G>T c.1018G>T (p.Glu340Ter) | |
X | g.149483111C>G | CA414518419 | IDS | c.1288G>C (p.Glu430Gln) c.655G>C (p.Glu219Gln) n.395G>C c.1018G>C (p.Glu340Gln) | |
X | g.149483111C>T | CA414518420 | IDS | c.1288G>A (p.Glu430Lys) c.655G>A (p.Glu219Lys) n.395G>A c.1018G>A (p.Glu340Lys) | |
X | g.149483112A>C | CA519174041 | IDS | c.1287T>G (p.Val429=) c.654T>G (p.Val218=) n.394T>G c.1017T>G (p.Val339=) | gnomAD v4 |
X | g.149483112A>G | CA519174043 | IDS | c.1287T>C (p.Val429=) c.654T>C (p.Val218=) n.394T>C c.1017T>C (p.Val339=) | |
X | g.149483112A>T | CA519174044 | IDS | c.1287T>A (p.Val429=) c.654T>A (p.Val218=) n.394T>A c.1017T>A (p.Val339=) | |
X | g.149483113A>C | CA414518421 | IDS | c.1286T>G (p.Val429Gly) c.653T>G (p.Val218Gly) n.393T>G c.1016T>G (p.Val339Gly) | |
X | g.149483113A>G | CA414518422 | IDS | c.1286T>C (p.Val429Ala) c.653T>C (p.Val218Ala) n.393T>C c.1016T>C (p.Val339Ala) | |
X | g.149483113A>T | CA414518423 | IDS | c.1286T>A (p.Val429Asp) c.653T>A (p.Val218Asp) n.393T>A c.1016T>A (p.Val339Asp) | |
X | g.149483114C>A | CA414518424 | IDS | c.1285G>T (p.Val429Phe) c.652G>T (p.Val218Phe) n.392G>T c.1015G>T (p.Val339Phe) | |
X | g.149483114C= | CA2465004052 | IDS | c.1285G= (p.Val429=) c.652G= (p.Val218=) n.392G= c.1015G= (p.Val339=) | |
X | g.149483114C>G | CA414518425 | IDS | c.1285G>C (p.Val429Leu) c.652G>C (p.Val218Leu) n.392G>C c.1015G>C (p.Val339Leu) | |
X | g.149483114C>T | CA10537465 | IDS | c.1285G>A (p.Val429Ile) c.652G>A (p.Val218Ile) n.392G>A c.1015G>A (p.Val339Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.149483115G>A | CA10537466 | IDS | c.1284C>T (p.His428=) c.651C>T (p.His217=) n.391C>T c.1014C>T (p.His338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483115G>C | CA414518427 | IDS | c.1284C>G (p.His428Gln) c.651C>G (p.His217Gln) n.391C>G c.1014C>G (p.His338Gln) | |
X | g.149483115G= | CA2465004053 | IDS | c.1284C= (p.His428=) c.651C= (p.His217=) n.391C= c.1014C= (p.His338=) | |
X | g.149483115G>T | CA414518426 | IDS | c.1284C>A (p.His428Gln) c.651C>A (p.His217Gln) n.391C>A c.1014C>A (p.His338Gln) | |
X | g.149483116_149483117del | CA2739289615 | IDS | c.1283_1284del (p.His428ArgfsTer2) c.650_651del (p.His217ArgfsTer2) n.390_391del c.1013_1014del (p.His338ArgfsTer2) | |
X | g.149483116T>A | CA414518429 | IDS | c.1283A>T (p.His428Leu) c.650A>T (p.His217Leu) n.390A>T c.1013A>T (p.His338Leu) | COSMIC |
X | g.149483116T>C | CA414518428 | IDS | c.1283A>G (p.His428Arg) c.650A>G (p.His217Arg) n.390A>G c.1013A>G (p.His338Arg) | |
X | g.149483116T>G | CA414518430 | IDS | c.1283A>C (p.His428Pro) c.650A>C (p.His217Pro) n.390A>C c.1013A>C (p.His338Pro) | |
X | g.149483117G>A | CA414518431 | IDS | c.1282C>T (p.His428Tyr) c.649C>T (p.His217Tyr) n.389C>T c.1012C>T (p.His338Tyr) | |
X | g.149483117G>C | CA414518432 | IDS | c.1282C>G (p.His428Asp) c.649C>G (p.His217Asp) n.389C>G c.1012C>G (p.His338Asp) | |
X | g.149483117G>T | CA414518433 | IDS | c.1282C>A (p.His428Asn) c.649C>A (p.His217Asn) n.389C>A c.1012C>A (p.His338Asn) | |
X | g.149483118A= | CA2465004054 | IDS | c.1281T= (p.Phe427=) c.648T= (p.Phe216=) n.388T= c.1011T= (p.Phe337=) | |
X | g.149483118A>C | CA10537467 | IDS | c.1281T>G (p.Phe427Leu) c.648T>G (p.Phe216Leu) n.388T>G c.1011T>G (p.Phe337Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149483118A>G | CA519174051 | IDS | c.1281T>C (p.Phe427=) c.648T>C (p.Phe216=) n.388T>C c.1011T>C (p.Phe337=) | |
X | g.149483118A>T | CA414518434 | IDS | c.1281T>A (p.Phe427Leu) c.648T>A (p.Phe216Leu) n.388T>A c.1011T>A (p.Phe337Leu) | |
X | g.149483119A>C | CA414518435 | IDS | c.1280T>G (p.Phe427Cys) c.647T>G (p.Phe216Cys) n.387T>G c.1010T>G (p.Phe337Cys) | |
X | g.149483119A>G | CA414518436 | IDS | c.1280T>C (p.Phe427Ser) c.647T>C (p.Phe216Ser) n.387T>C c.1010T>C (p.Phe337Ser) | |
X | g.149483119A>T | CA414518437 | IDS | c.1280T>A (p.Phe427Tyr) c.647T>A (p.Phe216Tyr) n.387T>A c.1010T>A (p.Phe337Tyr) | |
X | g.149483120A= | CA2465004055 | IDS | c.1279T= (p.Phe427=) c.646T= (p.Phe216=) n.386T= c.1009T= (p.Phe337=) | |
X | g.149483120A>C | CA414518438 | IDS | c.1279T>G (p.Phe427Val) c.646T>G (p.Phe216Val) n.386T>G c.1009T>G (p.Phe337Val) | |
X | g.149483120A>G | CA414518439 | IDS | c.1279T>C (p.Phe427Leu) c.646T>C (p.Phe216Leu) n.386T>C c.1009T>C (p.Phe337Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.149483120A>T | CA414518440 | IDS | c.1279T>A (p.Phe427Ile) c.646T>A (p.Phe216Ile) n.386T>A c.1009T>A (p.Phe337Ile) | |
X | g.149483121T>A | CA519174059 | IDS | c.1278A>T (p.Ser426=) c.645A>T (p.Ser215=) n.385A>T c.1008A>T (p.Ser336=) | |
X | g.149483121T>C | CA519174058 | IDS | c.1278A>G (p.Ser426=) c.645A>G (p.Ser215=) n.385A>G c.1008A>G (p.Ser336=) | gnomAD v4 |
X | g.149483121T>G | CA519174057 | IDS | c.1278A>C (p.Ser426=) c.645A>C (p.Ser215=) n.385A>C c.1008A>C (p.Ser336=) | |
X | g.149483122G>A | CA414518443 | IDS | c.1277C>T (p.Ser426Leu) c.644C>T (p.Ser215Leu) n.384C>T c.1007C>T (p.Ser336Leu) | |
X | g.149483122G>C | CA414518442 | IDS | c.1277C>G (p.Ser426Ter) c.644C>G (p.Ser215Ter) n.384C>G c.1007C>G (p.Ser336Ter) | |
X | g.149483122G>T | CA414518441 | IDS | c.1277C>A (p.Ser426Ter) c.644C>A (p.Ser215Ter) n.384C>A c.1007C>A (p.Ser336Ter) | |
X | g.149483125_149483128del | CA2695236522 | IDS | c.1274_1277del (p.Pro425HisfsTer14) c.641_644del (p.Pro214HisfsTer14) n.381_384del c.1004_1007del (p.Pro335HisfsTer14) | |
X | g.149483123A>C | CA414518444 | IDS | c.1276T>G (p.Ser426Ala) c.643T>G (p.Ser215Ala) n.383T>G c.1006T>G (p.Ser336Ala) | |
X | g.149483123A>G | CA414518445 | IDS | c.1276T>C (p.Ser426Pro) c.643T>C (p.Ser215Pro) n.383T>C c.1006T>C (p.Ser336Pro) | |
X | g.149483123A>T | CA414518446 | IDS | c.1276T>A (p.Ser426Thr) c.643T>A (p.Ser215Thr) n.383T>A c.1006T>A (p.Ser336Thr) | |
X | g.149483124A>C | CA519174066 | IDS | c.1275T>G (p.Pro425=) c.642T>G (p.Pro214=) n.382T>G c.1005T>G (p.Pro335=) | |
X | g.149483124A>G | CA519174065 | IDS | c.1275T>C (p.Pro425=) c.642T>C (p.Pro214=) n.382T>C c.1005T>C (p.Pro335=) | |
X | g.149483124A>T | CA519174064 | IDS | c.1275T>A (p.Pro425=) c.642T>A (p.Pro214=) n.382T>A c.1005T>A (p.Pro335=) | ClinVar |
X | g.149483125G>A | CA414518447 | IDS | c.1274C>T (p.Pro425Leu) c.641C>T (p.Pro214Leu) n.381C>T c.1004C>T (p.Pro335Leu) | |
X | g.149483125G>C | CA414518448 | IDS | c.1274C>G (p.Pro425Arg) c.641C>G (p.Pro214Arg) n.381C>G c.1004C>G (p.Pro335Arg) | |
X | g.149483125G>T | CA414518449 | IDS | c.1274C>A (p.Pro425His) c.641C>A (p.Pro214His) n.381C>A c.1004C>A (p.Pro335His) | |
X | g.149483126del | CA2695236523 | IDS | c.1274del (p.Pro425LeufsTer15) c.641del (p.Pro214LeufsTer15) n.381del c.1004del (p.Pro335LeufsTer15) | |
X | g.149483126G>A | CA414518450 | IDS | c.1273C>T (p.Pro425Ser) c.640C>T (p.Pro214Ser) n.380C>T c.1003C>T (p.Pro335Ser) | |
X | g.149483126G>C | CA414518451 | IDS | c.1273C>G (p.Pro425Ala) c.640C>G (p.Pro214Ala) n.380C>G c.1003C>G (p.Pro335Ala) | |
X | g.149483126G>T | CA414518452 | IDS | c.1273C>A (p.Pro425Thr) c.640C>A (p.Pro214Thr) n.380C>A c.1003C>A (p.Pro335Thr) | |
X | g.149483127A>C | CA519174071 | IDS | c.1272T>G (p.Val424=) c.639T>G (p.Val213=) n.379T>G c.1002T>G (p.Val334=) | |
X | g.149483127A>G | CA519174076 | IDS | c.1272T>C (p.Val424=) c.639T>C (p.Val213=) n.379T>C c.1002T>C (p.Val334=) | gnomAD v4 |
X | g.149483127A>T | CA519174073 | IDS | c.1272T>A (p.Val424=) c.639T>A (p.Val213=) n.379T>A c.1002T>A (p.Val334=) | |
X | g.149483128del | CA2499226412 | IDS | c.1272del (p.Pro425LeufsTer15) c.639del (p.Pro214LeufsTer15) n.379del c.1002del (p.Pro335LeufsTer15) | ClinVar dbSNP |
X | g.149483128A= | CA2465004056 | IDS | c.1271T= (p.Val424=) c.638T= (p.Val213=) n.378T= c.1001T= (p.Val334=) | |
X | g.149483128A>C | CA414518453 | IDS | c.1271T>G (p.Val424Gly) c.638T>G (p.Val213Gly) n.378T>G c.1001T>G (p.Val334Gly) | dbSNP gnomAD v3 gnomAD v4 |
X | g.149483128A>G | CA414518454 | IDS | c.1271T>C (p.Val424Ala) c.638T>C (p.Val213Ala) n.378T>C c.1001T>C (p.Val334Ala) | |
X | g.149483128A>T | CA414518455 | IDS | c.1271T>A (p.Val424Asp) c.638T>A (p.Val213Asp) n.378T>A c.1001T>A (p.Val334Asp) | |
X | g.149483128_149483129del | CA2695236526 | IDS | c.1270_1271del (p.Val424SerfsTer6) c.637_638del (p.Val213SerfsTer6) n.377_378del c.1000_1001del (p.Val334SerfsTer6) | |
X | g.149483128_149483129insG | CA2838032000 | IDS | c.1270_1271insC (p.Val424AlafsTer7) c.637_638insC (p.Val213AlafsTer7) n.377_378insC c.1000_1001insC (p.Val334AlafsTer7) | |
X | g.149483128_149483129insGG | CA2838032001 | IDS | c.1270_1271insCC (p.Val424AlafsTer17) c.637_638insCC (p.Val213AlafsTer17) n.377_378insCC c.1000_1001insCC (p.Val334AlafsTer17) | |
X | g.149483129del | CA2695236528 | IDS | c.1270del (p.Val424PhefsTer16) c.637del (p.Val213PhefsTer16) n.377del c.1000del (p.Val334PhefsTer16) | |
X | g.149483129C>A | CA414518457 | IDS | c.1270G>T (p.Val424Phe) c.637G>T (p.Val213Phe) n.377G>T c.1000G>T (p.Val334Phe) | |
X | g.149483129C= | CA2465004057 | IDS | c.1270G= (p.Val424=) c.637G= (p.Val213=) n.377G= c.1000G= (p.Val334=) | |
X | g.149483129C>G | CA414518456 | IDS | c.1270G>C (p.Val424Leu) c.637G>C (p.Val213Leu) n.377G>C c.1000G>C (p.Val334Leu) | |
X | g.149483129C>T | CA10537468 | IDS | c.1270G>A (p.Val424Ile) c.637G>A (p.Val213Ile) n.377G>A c.1000G>A (p.Val334Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483130G>A | CA10537469 | IDS | c.1269C>T (p.Pro423=) c.636C>T (p.Pro212=) n.376C>T c.999C>T (p.Pro333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483130G>C | CA519174081 | IDS | c.1269C>G (p.Pro423=) c.636C>G (p.Pro212=) n.376C>G c.999C>G (p.Pro333=) | |
X | g.149483130G= | CA2465004058 | IDS | c.1269C= (p.Pro423=) c.636C= (p.Pro212=) n.376C= c.999C= (p.Pro333=) | |
X | g.149483130G>T | CA519174082 | IDS | c.1269C>A (p.Pro423=) c.636C>A (p.Pro212=) n.376C>A c.999C>A (p.Pro333=) | |
X | g.149483133dup | CA2695236531 | IDS | c.1269dup (p.Val424ArgfsTer7) c.636dup (p.Val213ArgfsTer7) n.376dup c.999dup (p.Val334ArgfsTer7) | |
X | g.149483132_149483133dup | CA2695236532 | IDS | c.1268_1269dup (p.Val424ProfsTer17) c.635_636dup (p.Val213ProfsTer17) n.375_376dup c.998_999dup (p.Val334ProfsTer17) | |
X | g.149483133del | CA2580101618 | IDS | c.1269del (p.Val424PhefsTer16) c.636del (p.Val213PhefsTer16) n.376del c.999del (p.Val334PhefsTer16) | ClinVar dbSNP |
X | g.149483131G>A | CA414518458 | IDS | c.1268C>T (p.Pro423Leu) c.635C>T (p.Pro212Leu) n.375C>T c.998C>T (p.Pro333Leu) | ClinVar dbSNP |
X | g.149483131G>C | CA414518459 | IDS | c.1268C>G (p.Pro423Arg) c.635C>G (p.Pro212Arg) n.375C>G c.998C>G (p.Pro333Arg) | |
X | g.149483131G= | CA2465004059 | IDS | c.1268C= (p.Pro423=) c.635C= (p.Pro212=) n.375C= c.998C= (p.Pro333=) | |
X | g.149483131G>T | CA414518460 | IDS | c.1268C>A (p.Pro423His) c.635C>A (p.Pro212His) n.375C>A c.998C>A (p.Pro333His) | |
X | g.149483132G>A | CA414518461 | IDS | c.1267C>T (p.Pro423Ser) c.634C>T (p.Pro212Ser) n.374C>T c.997C>T (p.Pro333Ser) | gnomAD v4 |
X | g.149483132G>C | CA414518462 | IDS | c.1267C>G (p.Pro423Ala) c.634C>G (p.Pro212Ala) n.374C>G c.997C>G (p.Pro333Ala) | gnomAD v4 |
X | g.149483132G>T | CA414518463 | IDS | c.1267C>A (p.Pro423Thr) c.634C>A (p.Pro212Thr) n.374C>A c.997C>A (p.Pro333Thr) | |
X | g.149483133G>A | CA519174089 | IDS | c.1266C>T (p.Cys422=) c.633C>T (p.Cys211=) n.373C>T c.996C>T (p.Cys332=) | |
X | g.149483133G>C | CA414518464 | IDS | c.1266C>G (p.Cys422Trp) c.633C>G (p.Cys211Trp) n.373C>G c.996C>G (p.Cys332Trp) | |
X | g.149483133G>T | CA414518465 | IDS | c.1266C>A (p.Cys422Ter) c.633C>A (p.Cys211Ter) n.373C>A c.996C>A (p.Cys332Ter) | |
X | g.149483134C>A | CA414518466 | IDS | c.1265G>T (p.Cys422Phe) c.632G>T (p.Cys211Phe) n.372G>T c.995G>T (p.Cys332Phe) | ClinVar dbSNP |
X | g.149483134C= | CA2465004060 | IDS | c.1265G= (p.Cys422=) c.632G= (p.Cys211=) n.372G= c.995G= (p.Cys332=) | |
X | g.149483134C>G | CA414518467 | IDS | c.1265G>C (p.Cys422Ser) c.632G>C (p.Cys211Ser) n.372G>C c.995G>C (p.Cys332Ser) | |
X | g.149483134C>T | CA10604925 | IDS | c.1265G>A (p.Cys422Tyr) c.632G>A (p.Cys211Tyr) n.372G>A c.995G>A (p.Cys332Tyr) | ClinVar dbSNP |
X | g.149483135A= | CA2465004061 | IDS | c.1264T= (p.Cys422=) c.631T= (p.Cys211=) n.371T= c.994T= (p.Cys332=) | |
X | g.149483135A>C | CA255274 | IDS | c.1264T>G (p.Cys422Gly) c.631T>G (p.Cys211Gly) n.371T>G c.994T>G (p.Cys332Gly) | ClinVar dbSNP |
X | g.149483135A>G | CA414518469 | IDS | c.1264T>C (p.Cys422Arg) c.631T>C (p.Cys211Arg) n.371T>C c.994T>C (p.Cys332Arg) | ClinVar dbSNP |
X | g.149483135A>T | CA414518468 | IDS | c.1264T>A (p.Cys422Ser) c.631T>A (p.Cys211Ser) n.371T>A c.994T>A (p.Cys332Ser) | |
X | g.149483136G>A | CA519174097 | IDS | c.1263C>T (p.Arg421=) c.630C>T (p.Arg210=) n.370C>T c.993C>T (p.Arg331=) | |
X | g.149483136G>C | CA519174098 | IDS | c.1263C>G (p.Arg421=) c.630C>G (p.Arg210=) n.370C>G c.993C>G (p.Arg331=) | |
X | g.149483136G>T | CA519174099 | IDS | c.1263C>A (p.Arg421=) c.630C>A (p.Arg210=) n.370C>A c.993C>A (p.Arg331=) | |
X | g.149483137C>A | CA414518470 | IDS | c.1262G>T (p.Arg421Leu) c.629G>T (p.Arg210Leu) n.369G>T c.992G>T (p.Arg331Leu) | |
X | g.149483137C= | CA2465004062 | IDS | c.1262G= (p.Arg421=) c.629G= (p.Arg210=) n.369G= c.992G= (p.Arg331=) | |
X | g.149483137C>G | CA414518471 | IDS | c.1262G>C (p.Arg421Pro) c.629G>C (p.Arg210Pro) n.369G>C c.992G>C (p.Arg331Pro) | |
X | g.149483137C>T | CA10537470 | IDS | c.1262G>A (p.Arg421His) c.629G>A (p.Arg210His) n.369G>A c.992G>A (p.Arg331His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149483138G>A | CA10537471 | IDS | c.1261C>T (p.Arg421Cys) c.628C>T (p.Arg210Cys) n.368C>T c.991C>T (p.Arg331Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483138G>C | CA414518472 | IDS | c.1261C>G (p.Arg421Gly) c.628C>G (p.Arg210Gly) n.368C>G c.991C>G (p.Arg331Gly) | |
X | g.149483138G= | CA2465004063 | IDS | c.1261C= (p.Arg421=) c.628C= (p.Arg210=) n.368C= c.991C= (p.Arg331=) | |
X | g.149483138G>T | CA414518473 | IDS | c.1261C>A (p.Arg421Ser) c.628C>A (p.Arg210Ser) n.368C>A c.991C>A (p.Arg331Ser) | |
X | g.149483139A>C | CA519174106 | IDS | c.1260T>G (p.Pro420=) c.627T>G (p.Pro209=) n.367T>G c.990T>G (p.Pro330=) | |
X | g.149483139A>G | CA519174107 | IDS | c.1260T>C (p.Pro420=) c.627T>C (p.Pro209=) n.367T>C c.990T>C (p.Pro330=) | |
X | g.149483139A>T | CA519174111 | IDS | c.1260T>A (p.Pro420=) c.627T>A (p.Pro209=) n.367T>A c.990T>A (p.Pro330=) | |
X | g.149483139_149483140delinsAG | CA2465004064 | IDS | c.1259_1260delinsCT (p.Pro420=) c.626_627delinsCT (p.Pro209=) n.366_367delinsCT c.989_990delinsCT (p.Pro330=) | |
X | g.149483140G>A | CA414518474 | IDS | c.1259C>T (p.Pro420Leu) c.626C>T (p.Pro209Leu) n.366C>T c.989C>T (p.Pro330Leu) | |
X | g.149483140G>C | CA414518475 | IDS | c.1259C>G (p.Pro420Arg) c.626C>G (p.Pro209Arg) n.366C>G c.989C>G (p.Pro330Arg) | |
X | g.149483140G= | CA2465004066 | IDS | c.1259C= (p.Pro420=) c.626C= (p.Pro209=) n.366C= c.989C= (p.Pro330=) | |
X | g.149483140G>T | CA337035533 | IDS | c.1259C>A (p.Pro420His) c.626C>A (p.Pro209His) n.366C>A c.989C>A (p.Pro330His) | dbSNP |
X | g.149483141del | CA2465004065 | IDS | c.1259del (p.Pro420LeufsTer20) c.626del (p.Pro209LeufsTer20) n.366del c.989del (p.Pro330LeufsTer20) | ClinVar dbSNP |
X | g.149483141G>A | CA414518476 | IDS | c.1258C>T (p.Pro420Ser) c.625C>T (p.Pro209Ser) n.365C>T c.988C>T (p.Pro330Ser) | |
X | g.149483141G>C | CA414518477 | IDS | c.1258C>G (p.Pro420Ala) c.625C>G (p.Pro209Ala) n.365C>G c.988C>G (p.Pro330Ala) | |
X | g.149483141G>T | CA414518478 | IDS | c.1258C>A (p.Pro420Thr) c.625C>A (p.Pro209Thr) n.365C>A c.988C>A (p.Pro330Thr) | |
X | g.149483142T>A | CA519174119 | IDS | c.1257A>T (p.Pro419=) c.624A>T (p.Pro208=) n.364A>T c.987A>T (p.Pro329=) | |
X | g.149483142T>C | CA10537472 | IDS | c.1257A>G (p.Pro419=) c.624A>G (p.Pro208=) n.364A>G c.987A>G (p.Pro329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149483142T>G | CA519174122 | IDS | c.1257A>C (p.Pro419=) c.624A>C (p.Pro208=) n.364A>C c.987A>C (p.Pro329=) | |
X | g.149483142T= | CA2465004067 | IDS | c.1257A= (p.Pro419=) c.624A= (p.Pro208=) n.364A= c.987A= (p.Pro329=) | |
X | g.149483143G>A | CA414518480 | IDS | c.1256C>T (p.Pro419Leu) c.623C>T (p.Pro208Leu) n.363C>T c.986C>T (p.Pro329Leu) | |
X | g.149483143G>C | CA414518481 | IDS | c.1256C>G (p.Pro419Arg) c.623C>G (p.Pro208Arg) n.363C>G c.986C>G (p.Pro329Arg) | |
X | g.149483143G>T | CA414518479 | IDS | c.1256C>A (p.Pro419Gln) c.623C>A (p.Pro208Gln) n.363C>A c.986C>A (p.Pro329Gln) | |
X | g.149483144G>A | CA414518484 | IDS | c.1255C>T (p.Pro419Ser) c.622C>T (p.Pro208Ser) n.362C>T c.985C>T (p.Pro329Ser) | gnomAD v4 |
X | g.149483144G>C | CA414518482 | IDS | c.1255C>G (p.Pro419Ala) c.622C>G (p.Pro208Ala) n.362C>G c.985C>G (p.Pro329Ala) | |
X | g.149483144G>T | CA414518483 | IDS | c.1255C>A (p.Pro419Thr) c.622C>A (p.Pro208Thr) n.362C>A c.985C>A (p.Pro329Thr) | ClinVar |
X | g.149483145A= | CA2465004068 | IDS | c.1254T= (p.Val418=) c.621T= (p.Val207=) n.361T= c.984T= (p.Val328=) | |
X | g.149483145A>C | CA519174129 | IDS | c.1254T>G (p.Val418=) c.621T>G (p.Val207=) n.361T>G c.984T>G (p.Val328=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.149483145A>G | CA519174130 | IDS | c.1254T>C (p.Val418=) c.621T>C (p.Val207=) n.361T>C c.984T>C (p.Val328=) | COSMIC |
X | g.149483145A>T | CA519174131 | IDS | c.1254T>A (p.Val418=) c.621T>A (p.Val207=) n.361T>A c.984T>A (p.Val328=) | |
X | g.149483146del | CA2499226413 | IDS | c.1254del (p.Pro419HisfsTer21) c.621del (p.Pro208HisfsTer21) n.361del c.984del (p.Pro329HisfsTer21) | ClinVar dbSNP |
X | g.149483146A>C | CA414518485 | IDS | c.1253T>G (p.Val418Gly) c.620T>G (p.Val207Gly) n.360T>G c.983T>G (p.Val328Gly) | |
X | g.149483146A>G | CA414518486 | IDS | c.1253T>C (p.Val418Ala) c.620T>C (p.Val207Ala) n.360T>C c.983T>C (p.Val328Ala) | ClinVar |
X | g.149483146A>T | CA414518487 | IDS | c.1253T>A (p.Val418Asp) c.620T>A (p.Val207Asp) n.360T>A c.983T>A (p.Val328Asp) | |
X | g.149483147C>A | CA414518488 | IDS | c.1252G>T (p.Val418Phe) c.619G>T (p.Val207Phe) n.359G>T c.982G>T (p.Val328Phe) | |
X | g.149483147C>G | CA414518489 | IDS | c.1252G>C (p.Val418Leu) c.619G>C (p.Val207Leu) n.359G>C c.982G>C (p.Val328Leu) | |
X | g.149483147C>T | CA414518490 | IDS | c.1252G>A (p.Val418Ile) c.619G>A (p.Val207Ile) n.359G>A c.982G>A (p.Val328Ile) | |
X | g.149483148C>A | CA414518491 | IDS | c.1251G>T (p.Gln417His) c.618G>T (p.Gln206His) n.358G>T c.981G>T (p.Gln327His) | |
X | g.149483148C= | CA2465004069 | IDS | c.1251G= (p.Gln417=) c.618G= (p.Gln206=) n.358G= c.981G= (p.Gln327=) | |
X | g.149483148C>G | CA414518492 | IDS | c.1251G>C (p.Gln417His) c.618G>C (p.Gln206His) n.358G>C c.981G>C (p.Gln327His) | |
X | g.149483148C>T | CA519174139 | IDS | c.1251G>A (p.Gln417=) c.618G>A (p.Gln206=) n.358G>A c.981G>A (p.Gln327=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.149483149T>A | CA414518493 | IDS | c.1250A>T (p.Gln417Leu) c.617A>T (p.Gln206Leu) n.357A>T c.980A>T (p.Gln327Leu) | |
X | g.149483149T>C | CA414518494 | IDS | c.1250A>G (p.Gln417Arg) c.617A>G (p.Gln206Arg) n.357A>G c.980A>G (p.Gln327Arg) | gnomAD v4 |
X | g.149483149T>G | CA414518495 | IDS | c.1250A>C (p.Gln417Pro) c.617A>C (p.Gln206Pro) n.357A>C c.980A>C (p.Gln327Pro) | |
X | g.149483150_149483203dup | CA2838032002 | IDS | c.1197_1250dup (p.Leu416_Gln417insHisLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeu) c.564_617dup (p.Leu205_Gln206insHisLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeu) n.304_357dup c.927_980dup (p.Leu326_Gln327insHisLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeu) | |
X | g.149483150G>A | CA414518496 | IDS | c.1249C>T (p.Gln417Ter) c.616C>T (p.Gln206Ter) n.356C>T c.979C>T (p.Gln327Ter) | ClinVar dbSNP |
X | g.149483150G>C | CA414518498 | IDS | c.1249C>G (p.Gln417Glu) c.616C>G (p.Gln206Glu) n.356C>G c.979C>G (p.Gln327Glu) | gnomAD v4 |
X | g.149483150G>T | CA414518497 | IDS | c.1249C>A (p.Gln417Lys) c.616C>A (p.Gln206Lys) n.356C>A c.979C>A (p.Gln327Lys) | |
X | g.149483151C>A | CA519174147 | IDS | c.1248G>T (p.Leu416=) c.615G>T (p.Leu205=) n.355G>T c.978G>T (p.Leu326=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.149483151C= | CA2465004070 | IDS | c.1248G= (p.Leu416=) c.615G= (p.Leu205=) n.355G= c.978G= (p.Leu326=) | |
X | g.149483151C>G | CA519174148 | IDS | c.1248G>C (p.Leu416=) c.615G>C (p.Leu205=) n.355G>C c.978G>C (p.Leu326=) | |
X | g.149483151C>T | CA519174150 | IDS | c.1248G>A (p.Leu416=) c.615G>A (p.Leu205=) n.355G>A c.978G>A (p.Leu326=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483152A= | CA2465004071 | IDS | c.1247T= (p.Leu416=) c.614T= (p.Leu205=) n.354T= c.977T= (p.Leu326=) | |
X | g.149483152A>C | CA414518499 | IDS | c.1247T>G (p.Leu416Arg) c.614T>G (p.Leu205Arg) n.354T>G c.977T>G (p.Leu326Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.149483152A>G | CA414518500 | IDS | c.1247T>C (p.Leu416Pro) c.614T>C (p.Leu205Pro) n.354T>C c.977T>C (p.Leu326Pro) | |
X | g.149483152A>T | CA414518501 | IDS | c.1247T>A (p.Leu416Gln) c.614T>A (p.Leu205Gln) n.354T>A c.977T>A (p.Leu326Gln) | |
X | g.149483153G>A | CA519174155 | IDS | c.1246C>T (p.Leu416=) c.613C>T (p.Leu205=) n.353C>T c.976C>T (p.Leu326=) | |
X | g.149483153G>C | CA414518502 | IDS | c.1246C>G (p.Leu416Val) c.613C>G (p.Leu205Val) n.353C>G c.976C>G (p.Leu326Val) | |
X | g.149483153G= | CA2465004072 | IDS | c.1246C= (p.Leu416=) c.613C= (p.Leu205=) n.353C= c.976C= (p.Leu326=) | |
X | g.149483153G>T | CA414518503 | IDS | c.1246C>A (p.Leu416Met) c.613C>A (p.Leu205Met) n.353C>A c.976C>A (p.Leu326Met) | |
X | g.149483154T>A | CA519174160 | IDS | c.1245A>T (p.Gly415=) c.612A>T (p.Gly204=) n.352A>T c.975A>T (p.Gly325=) | |
X | g.149483154T>C | CA519174162 | IDS | c.1245A>G (p.Gly415=) c.612A>G (p.Gly204=) n.352A>G c.975A>G (p.Gly325=) | |
X | g.149483154T>G | CA519174161 | IDS | c.1245A>C (p.Gly415=) c.612A>C (p.Gly204=) n.352A>C c.975A>C (p.Gly325=) | |
X | g.149483155_149483157dup | CA645127362 | IDS | c.1243_1245dup (p.Gly415_Leu416insGly) c.610_612dup (p.Gly204_Leu205insGly) n.350_352dup c.973_975dup (p.Gly325_Leu326insGly) | dbSNP gnomAD v2 gnomAD v4 |
X | g.149483155C>A | CA414518504 | IDS | c.1244G>T (p.Gly415Val) c.611G>T (p.Gly204Val) n.351G>T c.974G>T (p.Gly325Val) | gnomAD v4 |
X | g.149483155C>G | CA414518505 | IDS | c.1244G>C (p.Gly415Ala) c.611G>C (p.Gly204Ala) n.351G>C c.974G>C (p.Gly325Ala) | |
X | g.149483155C>T | CA414518506 | IDS | c.1244G>A (p.Gly415Glu) c.611G>A (p.Gly204Glu) n.351G>A c.974G>A (p.Gly325Glu) | gnomAD v4 |
X | g.149483156C>A | CA414518507 | IDS | c.1243G>T (p.Gly415Ter) c.610G>T (p.Gly204Ter) n.350G>T c.973G>T (p.Gly325Ter) | |
X | g.149483156C>G | CA414518508 | IDS | c.1243G>C (p.Gly415Arg) c.610G>C (p.Gly204Arg) n.350G>C c.973G>C (p.Gly325Arg) | |
X | g.149483156C>T | CA414518509 | IDS | c.1243G>A (p.Gly415Arg) c.610G>A (p.Gly204Arg) n.350G>A c.973G>A (p.Gly325Arg) | |
X | g.149483157T>A | CA519174168 | IDS | c.1242A>T (p.Ala414=) c.609A>T (p.Ala203=) n.349A>T c.972A>T (p.Ala324=) | |
X | g.149483157T>C | CA519174170 | IDS | c.1242A>G (p.Ala414=) c.609A>G (p.Ala203=) n.349A>G c.972A>G (p.Ala324=) | |
X | g.149483157T>G | CA519174172 | IDS | c.1242A>C (p.Ala414=) c.609A>C (p.Ala203=) n.349A>C c.972A>C (p.Ala324=) | |
X | g.149483158G>A | CA414518511 | IDS | c.1241C>T (p.Ala414Val) c.608C>T (p.Ala203Val) n.348C>T c.971C>T (p.Ala324Val) | gnomAD v4 |
X | g.149483158G>C | CA414518512 | IDS | c.1241C>G (p.Ala414Gly) c.608C>G (p.Ala203Gly) n.348C>G c.971C>G (p.Ala324Gly) | |
X | g.149483158G>T | CA414518510 | IDS | c.1241C>A (p.Ala414Glu) c.608C>A (p.Ala203Glu) n.348C>A c.971C>A (p.Ala324Glu) | |
X | g.149483159C>A | CA414518513 | IDS | c.1240G>T (p.Ala414Ser) c.607G>T (p.Ala203Ser) n.347G>T c.970G>T (p.Ala324Ser) | |
X | g.149483159C= | CA2465004073 | IDS | c.1240G= (p.Ala414=) c.607G= (p.Ala203=) n.347G= c.970G= (p.Ala324=) | |
X | g.149483159C>G | CA414518514 | IDS | c.1240G>C (p.Ala414Pro) c.607G>C (p.Ala203Pro) n.347G>C c.970G>C (p.Ala324Pro) | |
X | g.149483159C>T | CA414518515 | IDS | c.1240G>A (p.Ala414Thr) c.607G>A (p.Ala203Thr) n.347G>A c.970G>A (p.Ala324Thr) | |
X | g.149483160A>C | CA519174183 | IDS | c.1239T>G (p.Leu413=) c.606T>G (p.Leu202=) n.346T>G c.969T>G (p.Leu323=) | |
X | g.149483160A>G | CA519174185 | IDS | c.1239T>C (p.Leu413=) c.606T>C (p.Leu202=) n.346T>C c.969T>C (p.Leu323=) | |
X | g.149483160A>T | CA519174184 | IDS | c.1239T>A (p.Leu413=) c.606T>A (p.Leu202=) n.346T>A c.969T>A (p.Leu323=) | |
X | g.149483160_149483161insGA | CA2465004074 | IDS | c.1239_1240insCT (p.Ala414LeufsTer27) c.606_607insCT (p.Ala203LeufsTer27) n.346_347insCT c.969_970insCT (p.Ala324LeufsTer27) | ClinVar dbSNP |
X | g.149483161A>C | CA414518516 | IDS | c.1238T>G (p.Leu413Arg) c.605T>G (p.Leu202Arg) n.345T>G c.968T>G (p.Leu323Arg) | gnomAD v4 |
X | g.149483161A>G | CA414518517 | IDS | c.1238T>C (p.Leu413Pro) c.605T>C (p.Leu202Pro) n.345T>C c.968T>C (p.Leu323Pro) | |
X | g.149483161A>T | CA414518518 | IDS | c.1238T>A (p.Leu413His) c.605T>A (p.Leu202His) n.345T>A c.968T>A (p.Leu323His) | |
X | g.149483162G>A | CA414518519 | IDS | c.1237C>T (p.Leu413Phe) c.604C>T (p.Leu202Phe) n.344C>T c.967C>T (p.Leu323Phe) | |
X | g.149483162G>C | CA414518520 | IDS | c.1237C>G (p.Leu413Val) c.604C>G (p.Leu202Val) n.344C>G c.967C>G (p.Leu323Val) | |
X | g.149483162G>T | CA414518521 | IDS | c.1237C>A (p.Leu413Ile) c.604C>A (p.Leu202Ile) n.344C>A c.967C>A (p.Leu323Ile) | |
X | g.149483163T>A | CA519174192 | IDS | c.1236A>T (p.Gly412=) c.603A>T (p.Gly201=) n.343A>T c.966A>T (p.Gly322=) | |
X | g.149483163T>C | CA10537473 | IDS | c.1236A>G (p.Gly412=) c.603A>G (p.Gly201=) n.343A>G c.966A>G (p.Gly322=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149483163T>G | CA519174195 | IDS | c.1236A>C (p.Gly412=) c.603A>C (p.Gly201=) n.343A>C c.966A>C (p.Gly322=) | |
X | g.149483163T= | CA2465004075 | IDS | c.1236A= (p.Gly412=) c.603A= (p.Gly201=) n.343A= c.966A= (p.Gly322=) | |
X | g.149483164C>A | CA414518522 | IDS | c.1235G>T (p.Gly412Val) c.602G>T (p.Gly201Val) n.342G>T c.965G>T (p.Gly322Val) | |
X | g.149483164C>G | CA414518523 | IDS | c.1235G>C (p.Gly412Ala) c.602G>C (p.Gly201Ala) n.342G>C c.965G>C (p.Gly322Ala) | |
X | g.149483164C>T | CA414518524 | IDS | c.1235G>A (p.Gly412Glu) c.602G>A (p.Gly201Glu) n.342G>A c.965G>A (p.Gly322Glu) | |
X | g.149483165C>A | CA414518526 | IDS | c.1234G>T (p.Gly412Ter) c.601G>T (p.Gly201Ter) n.341G>T c.964G>T (p.Gly322Ter) | ClinVar dbSNP |
X | g.149483165C= | CA2465004076 | IDS | c.1234G= (p.Gly412=) c.601G= (p.Gly201=) n.341G= c.964G= (p.Gly322=) | |
X | g.149483165C>G | CA414518527 | IDS | c.1234G>C (p.Gly412Arg) c.601G>C (p.Gly201Arg) n.341G>C c.964G>C (p.Gly322Arg) | |
X | g.149483165C>T | CA414518525 | IDS | c.1234G>A (p.Gly412Arg) c.601G>A (p.Gly201Arg) n.341G>A c.964G>A (p.Gly322Arg) | |
X | g.149483166A>C | CA519174202 | IDS | c.1233T>G (p.Ala411=) c.600T>G (p.Ala200=) n.340T>G c.963T>G (p.Ala321=) | |
X | g.149483166A>G | CA519174203 | IDS | c.1233T>C (p.Ala411=) c.600T>C (p.Ala200=) n.340T>C c.963T>C (p.Ala321=) | gnomAD v4 |
X | g.149483166A>T | CA519174204 | IDS | c.1233T>A (p.Ala411=) c.600T>A (p.Ala200=) n.340T>A c.963T>A (p.Ala321=) | |
X | g.149483167G>A | CA414518528 | IDS | c.1232C>T (p.Ala411Val) c.599C>T (p.Ala200Val) n.339C>T c.962C>T (p.Ala321Val) | |
X | g.149483167G>C | CA414518529 | IDS | c.1232C>G (p.Ala411Gly) c.599C>G (p.Ala200Gly) n.339C>G c.962C>G (p.Ala321Gly) | |
X | g.149483167G>T | CA414518530 | IDS | c.1232C>A (p.Ala411Asp) c.599C>A (p.Ala200Asp) n.339C>A c.962C>A (p.Ala321Asp) | gnomAD v4 |
X | g.149483168C>A | CA414518531 | IDS | c.1231G>T (p.Ala411Ser) c.598G>T (p.Ala200Ser) n.338G>T c.961G>T (p.Ala321Ser) | |
X | g.149483168C>G | CA414518532 | IDS | c.1231G>C (p.Ala411Pro) c.598G>C (p.Ala200Pro) n.338G>C c.961G>C (p.Ala321Pro) | |
X | g.149483168C>T | CA414518533 | IDS | c.1231G>A (p.Ala411Thr) c.598G>A (p.Ala200Thr) n.338G>A c.961G>A (p.Ala321Thr) | |
X | g.149483169C>A | CA519174209 | IDS | c.1230G>T (p.Leu410=) c.597G>T (p.Leu199=) n.337G>T c.960G>T (p.Leu320=) | |
X | g.149483169C>G | CA519174207 | IDS | c.1230G>C (p.Leu410=) c.597G>C (p.Leu199=) n.337G>C c.960G>C (p.Leu320=) | |
X | g.149483169C>T | CA519174208 | IDS | c.1230G>A (p.Leu410=) c.597G>A (p.Leu199=) n.337G>A c.960G>A (p.Leu320=) | |
X | g.149483170del | CA2838032003 | IDS | c.1229del (p.Leu410ArgfsTer30) c.596del (p.Leu199ArgfsTer30) n.336del c.959del (p.Leu320ArgfsTer30) | |
X | g.149483170A>C | CA414518536 | IDS | c.1229T>G (p.Leu410Arg) c.596T>G (p.Leu199Arg) n.336T>G c.959T>G (p.Leu320Arg) | |
X | g.149483170A>G | CA414518534 | IDS | c.1229T>C (p.Leu410Pro) c.596T>C (p.Leu199Pro) n.336T>C c.959T>C (p.Leu320Pro) | |
X | g.149483170A>T | CA414518535 | IDS | c.1229T>A (p.Leu410Gln) c.596T>A (p.Leu199Gln) n.336T>A c.959T>A (p.Leu320Gln) | |
X | g.149483170dup | CA2695236537 | IDS | c.1229dup (p.Ala411GlyfsTer20) c.596dup (p.Ala200GlyfsTer20) n.336dup c.959dup (p.Ala321GlyfsTer20) | |
X | g.149483171G>A | CA519174216 | IDS | c.1228C>T (p.Leu410=) c.595C>T (p.Leu199=) n.335C>T c.958C>T (p.Leu320=) | COSMIC |
X | g.149483171G>C | CA414518537 | IDS | c.1228C>G (p.Leu410Val) c.595C>G (p.Leu199Val) n.335C>G c.958C>G (p.Leu320Val) | |
X | g.149483171G>T | CA414518538 | IDS | c.1228C>A (p.Leu410Met) c.595C>A (p.Leu199Met) n.335C>A c.958C>A (p.Leu320Met) | |
X | g.149483172C>A | CA519174220 | IDS | c.1227G>T (p.Thr409=) c.594G>T (p.Thr198=) n.334G>T c.957G>T (p.Thr319=) | gnomAD v4 |
X | g.149483172C= | CA2465004077 | IDS | c.1227G= (p.Thr409=) c.594G= (p.Thr198=) n.334G= c.957G= (p.Thr319=) | |
X | g.149483172C>G | CA519174221 | IDS | c.1227G>C (p.Thr409=) c.594G>C (p.Thr198=) n.334G>C c.957G>C (p.Thr319=) | |
X | g.149483172C>T | CA247947 | IDS | c.1227G>A (p.Thr409=) c.594G>A (p.Thr198=) n.334G>A c.957G>A (p.Thr319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483173G>A | CA10537474 | IDS | c.1226C>T (p.Thr409Met) c.593C>T (p.Thr198Met) n.333C>T c.956C>T (p.Thr319Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.149483173G>C | CA414518539 | IDS | c.1226C>G (p.Thr409Arg) c.593C>G (p.Thr198Arg) n.333C>G c.956C>G (p.Thr319Arg) | |
X | g.149483173G= | CA2465004078 | IDS | c.1226C= (p.Thr409=) c.593C= (p.Thr198=) n.333C= c.956C= (p.Thr319=) | |
X | g.149483173G>T | CA414518540 | IDS | c.1226C>A (p.Thr409Lys) c.593C>A (p.Thr198Lys) n.333C>A c.956C>A (p.Thr319Lys) | |
X | g.149483174T>A | CA414518542 | IDS | c.1225A>T (p.Thr409Ser) c.592A>T (p.Thr198Ser) n.332A>T c.955A>T (p.Thr319Ser) | |
X | g.149483174T>C | CA414518543 | IDS | c.1225A>G (p.Thr409Ala) c.592A>G (p.Thr198Ala) n.332A>G c.955A>G (p.Thr319Ala) | |
X | g.149483174T>G | CA414518541 | IDS | c.1225A>C (p.Thr409Pro) c.592A>C (p.Thr198Pro) n.332A>C c.955A>C (p.Thr319Pro) | |
X | g.149483174_149483175insCCC | CA2739289616 | IDS | c.1224_1225insGGG (p.Pro408_Thr409insGly) c.591_592insGGG (p.Pro197_Thr198insGly) n.331_332insGGG c.954_955insGGG (p.Pro318_Thr319insGly) | |
X | g.149483175G>A | CA519174226 | IDS | c.1224C>T (p.Pro408=) c.591C>T (p.Pro197=) n.331C>T c.954C>T (p.Pro318=) | dbSNP |
X | g.149483175G>C | CA519174228 | IDS | c.1224C>G (p.Pro408=) c.591C>G (p.Pro197=) n.331C>G c.954C>G (p.Pro318=) | |
X | g.149483175G= | CA2465004079 | IDS | c.1224C= (p.Pro408=) c.591C= (p.Pro197=) n.331C= c.954C= (p.Pro318=) | |
X | g.149483175G>T | CA519174230 | IDS | c.1224C>A (p.Pro408=) c.591C>A (p.Pro197=) n.331C>A c.954C>A (p.Pro318=) | |
X | g.149483177dup | CA2573159288 | IDS | c.1224dup (p.Thr409HisfsTer22) c.591dup (p.Thr198HisfsTer22) n.331dup c.954dup (p.Thr319HisfsTer22) | ClinVar dbSNP |
X | g.149483177del | CA2695236538 | IDS | c.1224del (p.Thr409ArgfsTer?) c.591del (p.Thr198ArgfsTer?) n.331del c.954del (p.Thr319ArgfsTer?) | |
X | g.149483176G>A | CA414518545 | IDS | c.1223C>T (p.Pro408Leu) c.590C>T (p.Pro197Leu) n.330C>T c.953C>T (p.Pro318Leu) | gnomAD v4 |
X | g.149483176G>C | CA414518544 | IDS | c.1223C>G (p.Pro408Arg) c.590C>G (p.Pro197Arg) n.330C>G c.953C>G (p.Pro318Arg) | |
X | g.149483176G>T | CA414518546 | IDS | c.1223C>A (p.Pro408His) c.590C>A (p.Pro197His) n.330C>A c.953C>A (p.Pro318His) | |
X | g.149483177G>A | CA10537475 | IDS | c.1222C>T (p.Pro408Ser) c.589C>T (p.Pro197Ser) n.329C>T c.952C>T (p.Pro318Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483177G>C | CA414518548 | IDS | c.1222C>G (p.Pro408Ala) c.589C>G (p.Pro197Ala) n.329C>G c.952C>G (p.Pro318Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.149483177G= | CA2465004080 | IDS | c.1222C= (p.Pro408=) c.589C= (p.Pro197=) n.329C= c.952C= (p.Pro318=) | |
X | g.149483177G>T | CA414518547 | IDS | c.1222C>A (p.Pro408Thr) c.589C>A (p.Pro197Thr) n.329C>A c.952C>A (p.Pro318Thr) | |
X | g.149483177delinsTA | CA2695236539 | IDS | c.1222delinsTA (p.Pro408TyrfsTer23) c.589delinsTA (p.Pro197TyrfsTer23) n.329delinsTA c.952delinsTA (p.Pro318TyrfsTer23) | |
X | g.149483177_149483178delinsGA | CA2465004081 | IDS | c.1221_1222delinsTC (p.Phe407=) c.588_589delinsTC (p.Phe196=) n.328_329delinsTC c.951_952delinsTC (p.Phe317=) | |
X | g.149483178A>C | CA414518549 | IDS | c.1221T>G (p.Phe407Leu) c.588T>G (p.Phe196Leu) n.328T>G c.951T>G (p.Phe317Leu) | |
X | g.149483178A>G | CA519174235 | IDS | c.1221T>C (p.Phe407=) c.588T>C (p.Phe196=) n.328T>C c.951T>C (p.Phe317=) | |
X | g.149483178A>T | CA414518550 | IDS | c.1221T>A (p.Phe407Leu) c.588T>A (p.Phe196Leu) n.328T>A c.951T>A (p.Phe317Leu) | gnomAD v4 |
X | g.149483182del | CA2465004082 | IDS | c.1221del (p.Thr409ArgfsTer?) c.588del (p.Thr198ArgfsTer?) n.328del c.951del (p.Thr319ArgfsTer?) | ClinVar dbSNP |
X | g.149483181_149483182del | CA2695236542 | IDS | c.1220_1221del (p.Phe407SerfsTer23) c.587_588del (p.Phe196SerfsTer23) n.327_328del c.950_951del (p.Phe317SerfsTer23) | |
X | g.149483178_149483185delinsAAAAAGAG | CA2465004083 | IDS | c.1214_1221delinsCTCTTTTT (p.Ser405=) c.581_588delinsCTCTTTTT (p.Ser194=) n.321_328delinsCTCTTTTT c.944_951delinsCTCTTTTT (p.Ser315=) | |
X | g.149483179A>C | CA414518551 | IDS | c.1220T>G (p.Phe407Cys) c.587T>G (p.Phe196Cys) n.327T>G c.950T>G (p.Phe317Cys) | |
X | g.149483179A>G | CA414518553 | IDS | c.1220T>C (p.Phe407Ser) c.587T>C (p.Phe196Ser) n.327T>C c.950T>C (p.Phe317Ser) | |
X | g.149483179A>T | CA414518552 | IDS | c.1220T>A (p.Phe407Tyr) c.587T>A (p.Phe196Tyr) n.327T>A c.950T>A (p.Phe317Tyr) | |
X | g.149483180_149483186del | CA2465004084 | IDS | c.1214_1220del (p.Ser405PhefsTer?) c.581_587del (p.Ser194PhefsTer?) n.321_327del c.944_950del (p.Ser315PhefsTer?) | ClinVar dbSNP |
X | g.149483180A>C | CA414518554 | IDS | c.1219T>G (p.Phe407Val) c.586T>G (p.Phe196Val) n.326T>G c.949T>G (p.Phe317Val) | |
X | g.149483180A>G | CA414518555 | IDS | c.1219T>C (p.Phe407Leu) c.586T>C (p.Phe196Leu) n.326T>C c.949T>C (p.Phe317Leu) | |
X | g.149483180A>T | CA414518556 | IDS | c.1219T>A (p.Phe407Ile) c.586T>A (p.Phe196Ile) n.326T>A c.949T>A (p.Phe317Ile) | |
X | g.149483181A>C | CA519174241 | IDS | c.1218T>G (p.Leu406=) c.585T>G (p.Leu195=) n.325T>G c.948T>G (p.Leu316=) | |
X | g.149483181A>G | CA519174242 | IDS | c.1218T>C (p.Leu406=) c.585T>C (p.Leu195=) n.325T>C c.948T>C (p.Leu316=) | |
X | g.149483181A>T | CA519174243 | IDS | c.1218T>A (p.Leu406=) c.585T>A (p.Leu195=) n.325T>A c.948T>A (p.Leu316=) | |
X | g.149483182A>C | CA414518557 | IDS | c.1217T>G (p.Leu406Arg) c.584T>G (p.Leu195Arg) n.324T>G c.947T>G (p.Leu316Arg) | |
X | g.149483182A>G | CA414518558 | IDS | c.1217T>C (p.Leu406Pro) c.584T>C (p.Leu195Pro) n.324T>C c.947T>C (p.Leu316Pro) | |
X | g.149483182A>T | CA414518559 | IDS | c.1217T>A (p.Leu406His) c.584T>A (p.Leu195His) n.324T>A c.947T>A (p.Leu316His) | |
X | g.149483185_149483186del | CA2580612500 | IDS | c.1216_1217del (p.Leu406PhefsTer24) c.583_584del (p.Leu195PhefsTer24) n.323_324del c.946_947del (p.Leu316PhefsTer24) | ClinVar dbSNP |
X | g.149483183G>A | CA414518560 | IDS | c.1216C>T (p.Leu406Phe) c.583C>T (p.Leu195Phe) n.323C>T c.946C>T (p.Leu316Phe) | |
X | g.149483183G>C | CA414518561 | IDS | c.1216C>G (p.Leu406Val) c.583C>G (p.Leu195Val) n.323C>G c.946C>G (p.Leu316Val) | |
X | g.149483183G>T | CA414518562 | IDS | c.1216C>A (p.Leu406Ile) c.583C>A (p.Leu195Ile) n.323C>A c.946C>A (p.Leu316Ile) | |
X | g.149483184del | CA2695236545 | IDS | c.1215del (p.Leu406PhefsTer?) c.582del (p.Leu195PhefsTer?) n.322del c.945del (p.Leu316PhefsTer?) | |
X | g.149483184A>C | CA519174245 | IDS | c.1215T>G (p.Ser405=) c.582T>G (p.Ser194=) n.322T>G c.945T>G (p.Ser315=) | |
X | g.149483184A>G | CA519174248 | IDS | c.1215T>C (p.Ser405=) c.582T>C (p.Ser194=) n.322T>C c.945T>C (p.Ser315=) | |
X | g.149483184A>T | CA519174250 | IDS | c.1215T>A (p.Ser405=) c.582T>A (p.Ser194=) n.322T>A c.945T>A (p.Ser315=) | |
X | g.149483185_149483188dup | CA2695236546 | IDS | c.1212_1215dup (p.Leu406ValfsTer26) c.579_582dup (p.Leu195ValfsTer26) n.319_322dup c.942_945dup (p.Leu316ValfsTer26) | |
X | g.149483185G>A | CA414518563 | IDS | c.1214C>T (p.Ser405Phe) c.581C>T (p.Ser194Phe) n.321C>T c.944C>T (p.Ser315Phe) | ClinVar dbSNP COSMIC |
X | g.149483185G>C | CA414518564 | IDS | c.1214C>G (p.Ser405Cys) c.581C>G (p.Ser194Cys) n.321C>G c.944C>G (p.Ser315Cys) | gnomAD v4 |
X | g.149483185G= | CA2465004085 | IDS | c.1214C= (p.Ser405=) c.581C= (p.Ser194=) n.321C= c.944C= (p.Ser315=) | |
X | g.149483185G>T | CA414518565 | IDS | c.1214C>A (p.Ser405Tyr) c.581C>A (p.Ser194Tyr) n.321C>A c.944C>A (p.Ser315Tyr) | |
X | g.149483186A>C | CA414518568 | IDS | c.1213T>G (p.Ser405Ala) c.580T>G (p.Ser194Ala) n.320T>G c.943T>G (p.Ser315Ala) | |
X | g.149483186A>G | CA414518566 | IDS | c.1213T>C (p.Ser405Pro) c.580T>C (p.Ser194Pro) n.320T>C c.943T>C (p.Ser315Pro) | |
X | g.149483186A>T | CA414518567 | IDS | c.1213T>A (p.Ser405Thr) c.580T>A (p.Ser194Thr) n.320T>A c.943T>A (p.Ser315Thr) | |
X | g.149483187C>A | CA519174256 | IDS | c.1212G>T (p.Val404=) c.579G>T (p.Val193=) n.319G>T c.942G>T (p.Val314=) | |
X | g.149483187C>G | CA519174257 | IDS | c.1212G>C (p.Val404=) c.579G>C (p.Val193=) n.319G>C c.942G>C (p.Val314=) | ClinVar dbSNP gnomAD v4 |
X | g.149483187C>T | CA519174258 | IDS | c.1212G>A (p.Val404=) c.579G>A (p.Val193=) n.319G>A c.942G>A (p.Val314=) | dbSNP |
X | g.149483188A>C | CA414518569 | IDS | c.1211T>G (p.Val404Gly) c.578T>G (p.Val193Gly) n.318T>G c.941T>G (p.Val314Gly) | |
X | g.149483188A>G | CA414518570 | IDS | c.1211T>C (p.Val404Ala) c.578T>C (p.Val193Ala) n.318T>C c.941T>C (p.Val314Ala) | COSMIC |
X | g.149483188A>T | CA414518571 | IDS | c.1211T>A (p.Val404Glu) c.578T>A (p.Val193Glu) n.318T>A c.941T>A (p.Val314Glu) | |
X | g.149483189C>A | CA414518572 | IDS | c.1210G>T (p.Val404Leu) c.577G>T (p.Val193Leu) n.317G>T c.940G>T (p.Val314Leu) | |
X | g.149483189C>G | CA414518573 | IDS | c.1210G>C (p.Val404Leu) c.577G>C (p.Val193Leu) n.317G>C c.940G>C (p.Val314Leu) | |
X | g.149483189C>T | CA414518574 | IDS | c.1210G>A (p.Val404Met) c.577G>A (p.Val193Met) n.317G>A c.940G>A (p.Val314Met) | |
X | g.149483190A>C | CA519174276 | IDS | c.1209T>G (p.Leu403=) c.576T>G (p.Leu192=) n.316T>G c.939T>G (p.Leu313=) | |
X | g.149483190A>G | CA519174274 | IDS | c.1209T>C (p.Leu403=) c.576T>C (p.Leu192=) n.316T>C c.939T>C (p.Leu313=) | |
X | g.149483190A>T | CA519174270 | IDS | c.1209T>A (p.Leu403=) c.576T>A (p.Leu192=) n.316T>A c.939T>A (p.Leu313=) | |
X | g.149483191A>C | CA414518575 | IDS | c.1208T>G (p.Leu403Arg) c.575T>G (p.Leu192Arg) n.315T>G c.938T>G (p.Leu313Arg) | |
X | g.149483191A>G | CA414518576 | IDS | c.1208T>C (p.Leu403Pro) c.575T>C (p.Leu192Pro) n.315T>C c.938T>C (p.Leu313Pro) | |
X | g.149483191A>T | CA414518577 | IDS | c.1208T>A (p.Leu403His) c.575T>A (p.Leu192His) n.315T>A c.938T>A (p.Leu313His) | |
X | g.149483192G>A | CA414518578 | IDS | c.1207C>T (p.Leu403Phe) c.574C>T (p.Leu192Phe) n.314C>T c.937C>T (p.Leu313Phe) | |
X | g.149483192G>C | CA414518579 | IDS | c.1207C>G (p.Leu403Val) c.574C>G (p.Leu192Val) n.314C>G c.937C>G (p.Leu313Val) | ClinVar |
X | g.149483192G>T | CA414518580 | IDS | c.1207C>A (p.Leu403Ile) c.574C>A (p.Leu192Ile) n.314C>A c.937C>A (p.Leu313Ile) | |
X | g.149483193T>A | CA414518582 | IDS | c.1206A>T (p.Glu402Asp) c.573A>T (p.Glu191Asp) n.313A>T c.936A>T (p.Glu312Asp) | |
X | g.149483193T>C | CA519174284 | IDS | c.1206A>G (p.Glu402=) c.573A>G (p.Glu191=) n.313A>G c.936A>G (p.Glu312=) | gnomAD v4 |
X | g.149483193T>G | CA414518581 | IDS | c.1206A>C (p.Glu402Asp) c.573A>C (p.Glu191Asp) n.313A>C c.936A>C (p.Glu312Asp) | |
X | g.149483194T>A | CA414518583 | IDS | c.1205A>T (p.Glu402Val) c.572A>T (p.Glu191Val) n.312A>T c.935A>T (p.Glu312Val) | |
X | g.149483194T>C | CA414518584 | IDS | c.1205A>G (p.Glu402Gly) c.572A>G (p.Glu191Gly) n.312A>G c.935A>G (p.Glu312Gly) | |
X | g.149483194T>G | CA414518585 | IDS | c.1205A>C (p.Glu402Ala) c.572A>C (p.Glu191Ala) n.312A>C c.935A>C (p.Glu312Ala) | dbSNP |
X | g.149483194T= | CA2465004086 | IDS | c.1205A= (p.Glu402=) c.572A= (p.Glu191=) n.312A= c.935A= (p.Glu312=) | |
X | g.149483195C>A | CA414518586 | IDS | c.1204G>T (p.Glu402Ter) c.571G>T (p.Glu191Ter) n.311G>T c.934G>T (p.Glu312Ter) | |
X | g.149483195C>G | CA414518587 | IDS | c.1204G>C (p.Glu402Gln) c.571G>C (p.Glu191Gln) n.311G>C c.934G>C (p.Glu312Gln) | |
X | g.149483195C>T | CA414518588 | IDS | c.1204G>A (p.Glu402Lys) c.571G>A (p.Glu191Lys) n.311G>A c.934G>A (p.Glu312Lys) | |
X | g.149483196C>A | CA519174290 | IDS | c.1203G>T (p.Val401=) c.570G>T (p.Val190=) n.310G>T c.933G>T (p.Val311=) | |
X | g.149483196C>G | CA519174297 | IDS | c.1203G>C (p.Val401=) c.570G>C (p.Val190=) n.310G>C c.933G>C (p.Val311=) | |
X | g.149483196C>T | CA519174295 | IDS | c.1203G>A (p.Val401=) c.570G>A (p.Val190=) n.310G>A c.933G>A (p.Val311=) | ClinVar |
X | g.149483198_149483199del | CA2579719106 | IDS | c.1202_1203del (p.Val401GlyfsTer29) c.569_570del (p.Val190GlyfsTer29) n.309_310del c.932_933del (p.Val311GlyfsTer29) | |
X | g.149483197A>C | CA414518591 | IDS | c.1202T>G (p.Val401Gly) c.569T>G (p.Val190Gly) n.309T>G c.932T>G (p.Val311Gly) | |
X | g.149483197A>G | CA414518590 | IDS | c.1202T>C (p.Val401Ala) c.569T>C (p.Val190Ala) n.309T>C c.932T>C (p.Val311Ala) | |
X | g.149483197A>T | CA414518589 | IDS | c.1202T>A (p.Val401Glu) c.569T>A (p.Val190Glu) n.309T>A c.932T>A (p.Val311Glu) | |
X | g.149483198C>A | CA414518592 | IDS | c.1201G>T (p.Val401Leu) c.568G>T (p.Val190Leu) n.308G>T c.931G>T (p.Val311Leu) | |
X | g.149483198C>G | CA414518593 | IDS | c.1201G>C (p.Val401Leu) c.568G>C (p.Val190Leu) n.308G>C c.931G>C (p.Val311Leu) | |
X | g.149483198C>T | CA414518594 | IDS | c.1201G>A (p.Val401Met) c.568G>A (p.Val190Met) n.308G>A c.931G>A (p.Val311Met) | |
X | g.149483199A>C | CA519174298 | IDS | c.1200T>G (p.Leu400=) c.567T>G (p.Leu189=) n.307T>G c.930T>G (p.Leu310=) | |
X | g.149483199A>G | CA519174300 | IDS | c.1200T>C (p.Leu400=) c.567T>C (p.Leu189=) n.307T>C c.930T>C (p.Leu310=) | |
X | g.149483199A>T | CA519174303 | IDS | c.1200T>A (p.Leu400=) c.567T>A (p.Leu189=) n.307T>A c.930T>A (p.Leu310=) | |
X | g.149483200A>C | CA414518595 | IDS | c.1199T>G (p.Leu400Arg) c.566T>G (p.Leu189Arg) n.306T>G c.929T>G (p.Leu310Arg) | |
X | g.149483200A>G | CA414518596 | IDS | c.1199T>C (p.Leu400Pro) c.566T>C (p.Leu189Pro) n.306T>C c.929T>C (p.Leu310Pro) | ClinVar gnomAD v4 |
X | g.149483200A>T | CA414518597 | IDS | c.1199T>A (p.Leu400His) c.566T>A (p.Leu189His) n.306T>A c.929T>A (p.Leu310His) | |
X | g.149483201G>A | CA414518598 | IDS | c.1198C>T (p.Leu400Phe) c.565C>T (p.Leu189Phe) n.305C>T c.928C>T (p.Leu310Phe) | |
X | g.149483201G>C | CA414518600 | IDS | c.1198C>G (p.Leu400Val) c.565C>G (p.Leu189Val) n.305C>G c.928C>G (p.Leu310Val) | |
X | g.149483201G>T | CA414518599 | IDS | c.1198C>A (p.Leu400Ile) c.565C>A (p.Leu189Ile) n.305C>A c.928C>A (p.Leu310Ile) | |
X | g.149483202dup | CA2695236549 | IDS | c.1198dup (p.Leu400ProfsTer?) c.565dup (p.Leu189ProfsTer?) n.305dup c.928dup (p.Leu310ProfsTer?) | |
X | g.149483202G>A | CA519174308 | IDS | c.1197C>T (p.Asp399=) c.564C>T (p.Asp188=) n.304C>T c.927C>T (p.Asp309=) | ClinVar |
X | g.149483202G>C | CA414518601 | IDS | c.1197C>G (p.Asp399Glu) c.564C>G (p.Asp188Glu) n.304C>G c.927C>G (p.Asp309Glu) | |
X | g.149483202G>T | CA414518602 | IDS | c.1197C>A (p.Asp399Glu) c.564C>A (p.Asp188Glu) n.304C>A c.927C>A (p.Asp309Glu) | |
X | g.149483203T>A | CA414518603 | IDS | c.1196A>T (p.Asp399Val) c.563A>T (p.Asp188Val) n.303A>T c.926A>T (p.Asp309Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.149483203T>C | CA414518604 | IDS | c.1196A>G (p.Asp399Gly) c.563A>G (p.Asp188Gly) n.303A>G c.926A>G (p.Asp309Gly) | |
X | g.149483203T>G | CA414518605 | IDS | c.1196A>C (p.Asp399Ala) c.563A>C (p.Asp188Ala) n.303A>C c.926A>C (p.Asp309Ala) | |
X | g.149483203T= | CA2465004087 | IDS | c.1196A= (p.Asp399=) c.563A= (p.Asp188=) n.303A= c.926A= (p.Asp309=) | |
X | g.149483204C>A | CA414518606 | IDS | c.1195G>T (p.Asp399Tyr) c.562G>T (p.Asp188Tyr) n.302G>T c.925G>T (p.Asp309Tyr) | |
X | g.149483204C>G | CA414518607 | IDS | c.1195G>C (p.Asp399His) c.562G>C (p.Asp188His) n.302G>C c.925G>C (p.Asp309His) | gnomAD v4 |
X | g.149483204C>T | CA414518608 | IDS | c.1195G>A (p.Asp399Asn) c.562G>A (p.Asp188Asn) n.302G>A c.925G>A (p.Asp309Asn) |