UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.149482911G>A | CA519057463 | IDS | c.1488C>T (p.Asp496=) c.855C>T (p.Asp285=) c.1218C>T (p.Asp406=) | |
| X | g.149482911G>C | CA414517981 | IDS | c.1488C>G (p.Asp496Glu) c.855C>G (p.Asp285Glu) c.1218C>G (p.Asp406Glu) | |
| X | g.149482911G>T | CA414517982 | IDS | c.1488C>A (p.Asp496Glu) c.855C>A (p.Asp285Glu) c.1218C>A (p.Asp406Glu) | |
| X | g.149482913_149482919del | CA2695236484 | IDS | c.1482_1488del (p.Asp496GlyfsTer14) c.849_855del (p.Asp285GlyfsTer14) c.1212_1218del (p.Asp406GlyfsTer14) | |
| X | g.149482912T>A | CA414517983 | IDS | c.1487A>T (p.Asp496Val) c.854A>T (p.Asp285Val) c.1217A>T (p.Asp406Val) | |
| X | g.149482912T>C | CA414517984 | IDS | c.1487A>G (p.Asp496Gly) c.854A>G (p.Asp285Gly) c.1217A>G (p.Asp406Gly) | |
| X | g.149482912T>G | CA414517985 | IDS | c.1487A>C (p.Asp496Ala) c.854A>C (p.Asp285Ala) c.1217A>C (p.Asp406Ala) | |
| X | g.149482913C>A | CA414517986 | IDS | c.1486G>T (p.Asp496Tyr) c.853G>T (p.Asp285Tyr) c.1216G>T (p.Asp406Tyr) | |
| X | g.149482913C>G | CA414517987 | IDS | c.1486G>C (p.Asp496His) c.853G>C (p.Asp285His) c.1216G>C (p.Asp406His) | |
| X | g.149482913C>T | CA414517988 | IDS | c.1486G>A (p.Asp496Asn) c.853G>A (p.Asp285Asn) c.1216G>A (p.Asp406Asn) | gnomAD v4 |
| X | g.149482914T>A | CA519057464 | IDS | c.1485A>T (p.Ile495=) c.852A>T (p.Ile284=) c.1215A>T (p.Ile405=) | |
| X | g.149482914T>C | CA414517989 | IDS | c.1485A>G (p.Ile495Met) c.852A>G (p.Ile284Met) c.1215A>G (p.Ile405Met) | COSMIC |
| X | g.149482914T>G | CA519057465 | IDS | c.1485A>C (p.Ile495=) c.852A>C (p.Ile284=) c.1215A>C (p.Ile405=) | |
| X | g.149482914_149482915insTA | CA2695236485 | IDS | c.1484_1485insTA (p.Asp496LysfsTer17) c.851_852insTA (p.Asp285LysfsTer17) c.1214_1215insTA (p.Asp406LysfsTer17) | |
| X | g.149482915A= | CA2465003974 | IDS | c.1484T= (p.Ile495=) c.851T= (p.Ile284=) c.1214T= (p.Ile405=) | |
| X | g.149482915A>C | CA414517990 | IDS | c.1484T>G (p.Ile495Arg) c.851T>G (p.Ile284Arg) c.1214T>G (p.Ile405Arg) | |
| X | g.149482915A>G | CA414517991 | IDS | c.1484T>C (p.Ile495Thr) c.851T>C (p.Ile284Thr) c.1214T>C (p.Ile405Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482915A>T | CA414517992 | IDS | c.1484T>A (p.Ile495Lys) c.851T>A (p.Ile284Lys) c.1214T>A (p.Ile405Lys) | |
| X | g.149482916T>A | CA414517994 | IDS | c.1483A>T (p.Ile495Leu) c.850A>T (p.Ile284Leu) c.1213A>T (p.Ile405Leu) | |
| X | g.149482916T>C | CA10537439 | IDS | c.1483A>G (p.Ile495Val) c.850A>G (p.Ile284Val) c.1213A>G (p.Ile405Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482916T>G | CA414517993 | IDS | c.1483A>C (p.Ile495Leu) c.850A>C (p.Ile284Leu) c.1213A>C (p.Ile405Leu) | |
| X | g.149482916T= | CA2465003975 | IDS | c.1483A= (p.Ile495=) c.850A= (p.Ile284=) c.1213A= (p.Ile405=) | |
| X | g.149482917G>A | CA519057466 | IDS | c.1482C>T (p.Thr494=) c.849C>T (p.Thr283=) c.1212C>T (p.Thr404=) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.149482917G>C | CA519057467 | IDS | c.1482C>G (p.Thr494=) c.849C>G (p.Thr283=) c.1212C>G (p.Thr404=) | |
| X | g.149482917G>T | CA519057468 | IDS | c.1482C>A (p.Thr494=) c.849C>A (p.Thr283=) c.1212C>A (p.Thr404=) | gnomAD v4 |
| X | g.149482918G>A | CA414517995 | IDS | c.1481C>T (p.Thr494Ile) c.848C>T (p.Thr283Ile) c.1211C>T (p.Thr404Ile) | |
| X | g.149482918G>C | CA414517996 | IDS | c.1481C>G (p.Thr494Ser) c.848C>G (p.Thr283Ser) c.1211C>G (p.Thr404Ser) | |
| X | g.149482918G>T | CA414517997 | IDS | c.1481C>A (p.Thr494Asn) c.848C>A (p.Thr283Asn) c.1211C>A (p.Thr404Asn) | |
| X | g.149482919T>A | CA414517998 | IDS | c.1480A>T (p.Thr494Ser) c.847A>T (p.Thr283Ser) c.1210A>T (p.Thr404Ser) | |
| X | g.149482919T>C | CA414517999 | IDS | c.1480A>G (p.Thr494Ala) c.847A>G (p.Thr283Ala) c.1210A>G (p.Thr404Ala) | |
| X | g.149482919T>G | CA414518000 | IDS | c.1480A>C (p.Thr494Pro) c.847A>C (p.Thr283Pro) c.1210A>C (p.Thr404Pro) | |
| X | g.149482920G>A | CA519057469 | IDS | c.1479C>T (p.Arg493=) c.846C>T (p.Arg282=) c.1209C>T (p.Arg403=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482920G>C | CA519057470 | IDS | c.1479C>G (p.Arg493=) c.846C>G (p.Arg282=) c.1209C>G (p.Arg403=) | |
| X | g.149482920G= | CA2465003976 | IDS | c.1479C= (p.Arg493=) c.846C= (p.Arg282=) c.1209C= (p.Arg403=) | |
| X | g.149482920G>T | CA519057471 | IDS | c.1479C>A (p.Arg493=) c.846C>A (p.Arg282=) c.1209C>A (p.Arg403=) | |
| X | g.149482921C>A | CA414518001 | IDS | c.1478G>T (p.Arg493Leu) c.845G>T (p.Arg282Leu) c.1208G>T (p.Arg403Leu) | |
| X | g.149482921C= | CA2465003977 | IDS | c.1478G= (p.Arg493=) c.845G= (p.Arg282=) c.1208G= (p.Arg403=) | |
| X | g.149482921C>G | CA414518002 | IDS | c.1478G>C (p.Arg493Pro) c.845G>C (p.Arg282Pro) c.1208G>C (p.Arg403Pro) | ClinVar dbSNP |
| X | g.149482921C>T | CA10537440 | IDS | c.1478G>A (p.Arg493His) c.845G>A (p.Arg282His) c.1208G>A (p.Arg403His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482922G>A | CA337035525 | IDS | c.1477C>T (p.Arg493Cys) c.844C>T (p.Arg282Cys) c.1207C>T (p.Arg403Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482922G>C | CA414518003 | IDS | c.1477C>G (p.Arg493Gly) c.844C>G (p.Arg282Gly) c.1207C>G (p.Arg403Gly) | |
| X | g.149482922G= | CA2465003978 | IDS | c.1477C= (p.Arg493=) c.844C= (p.Arg282=) c.1207C= (p.Arg403=) | |
| X | g.149482922G>T | CA414518004 | IDS | c.1477C>A (p.Arg493Ser) c.844C>A (p.Arg282Ser) c.1207C>A (p.Arg403Ser) | gnomAD v4 |
| X | g.149482923T>A | CA519057472 | IDS | c.1476A>T (p.Ile492=) c.843A>T (p.Ile281=) c.1206A>T (p.Ile402=) | |
| X | g.149482923T>C | CA414518005 | IDS | c.1476A>G (p.Ile492Met) c.843A>G (p.Ile281Met) c.1206A>G (p.Ile402Met) | |
| X | g.149482923T>G | CA519057473 | IDS | c.1476A>C (p.Ile492=) c.843A>C (p.Ile281=) c.1206A>C (p.Ile402=) | |
| X | g.149482924A= | CA2465003979 | IDS | c.1475T= (p.Ile492=) c.842T= (p.Ile281=) c.1205T= (p.Ile402=) | |
| X | g.149482924A>C | CA414518006 | IDS | c.1475T>G (p.Ile492Arg) c.842T>G (p.Ile281Arg) c.1205T>G (p.Ile402Arg) | |
| X | g.149482924A>G | CA10537441 | IDS | c.1475T>C (p.Ile492Thr) c.842T>C (p.Ile281Thr) c.1205T>C (p.Ile402Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482924A>T | CA414518007 | IDS | c.1475T>A (p.Ile492Lys) c.842T>A (p.Ile281Lys) c.1205T>A (p.Ile402Lys) | |
| X | g.149482925T>A | CA414518008 | IDS | c.1474A>T (p.Ile492Leu) c.841A>T (p.Ile281Leu) c.1204A>T (p.Ile402Leu) | |
| X | g.149482925T>C | CA414518009 | IDS | c.1474A>G (p.Ile492Val) c.841A>G (p.Ile281Val) c.1204A>G (p.Ile402Val) | gnomAD v4 |
| X | g.149482925T>G | CA414518010 | IDS | c.1474A>C (p.Ile492Leu) c.841A>C (p.Ile281Leu) c.1204A>C (p.Ile402Leu) | |
| X | g.149482926G>A | CA519057474 | IDS | c.1473C>T (p.Ser491=) c.840C>T (p.Ser280=) c.1203C>T (p.Ser401=) | |
| X | g.149482926G>C | CA519057475 | IDS | c.1473C>G (p.Ser491=) c.840C>G (p.Ser280=) c.1203C>G (p.Ser401=) | |
| X | g.149482926G>T | CA519057476 | IDS | c.1473C>A (p.Ser491=) c.840C>A (p.Ser280=) c.1203C>A (p.Ser401=) | COSMIC |
| X | g.149482927G>A | CA414518011 | IDS | c.1472C>T (p.Ser491Phe) c.839C>T (p.Ser280Phe) c.1202C>T (p.Ser401Phe) | |
| X | g.149482927G>C | CA414518012 | IDS | c.1472C>G (p.Ser491Cys) c.839C>G (p.Ser280Cys) c.1202C>G (p.Ser401Cys) | |
| X | g.149482927G>T | CA414518013 | IDS | c.1472C>A (p.Ser491Tyr) c.839C>A (p.Ser280Tyr) c.1202C>A (p.Ser401Tyr) | ClinVar |
| X | g.149482928A>C | CA414518014 | IDS | c.1471T>G (p.Ser491Ala) c.838T>G (p.Ser280Ala) c.1201T>G (p.Ser401Ala) | |
| X | g.149482928A>G | CA414518015 | IDS | c.1471T>C (p.Ser491Pro) c.838T>C (p.Ser280Pro) c.1201T>C (p.Ser401Pro) | |
| X | g.149482928A>T | CA414518016 | IDS | c.1471T>A (p.Ser491Thr) c.838T>A (p.Ser280Thr) c.1201T>A (p.Ser401Thr) | |
| X | g.149482929A>C | CA414518017 | IDS | c.1470T>G (p.Tyr490Ter) c.837T>G (p.Tyr279Ter) c.1200T>G (p.Tyr400Ter) | ClinVar dbSNP |
| X | g.149482929A>G | CA519057477 | IDS | c.1470T>C (p.Tyr490=) c.837T>C (p.Tyr279=) c.1200T>C (p.Tyr400=) | |
| X | g.149482929A>T | CA414518018 | IDS | c.1470T>A (p.Tyr490Ter) c.837T>A (p.Tyr279Ter) c.1200T>A (p.Tyr400Ter) | ClinVar |
| X | g.149482930T>A | CA414518020 | IDS | c.1469A>T (p.Tyr490Phe) c.836A>T (p.Tyr279Phe) c.1199A>T (p.Tyr400Phe) | |
| X | g.149482930T>C | CA414518021 | IDS | c.1469A>G (p.Tyr490Cys) c.836A>G (p.Tyr279Cys) c.1199A>G (p.Tyr400Cys) | gnomAD v4 |
| X | g.149482930T>G | CA414518019 | IDS | c.1469A>C (p.Tyr490Ser) c.836A>C (p.Tyr279Ser) c.1199A>C (p.Tyr400Ser) | |
| X | g.149482931A>C | CA414518024 | IDS | c.1468T>G (p.Tyr490Asp) c.835T>G (p.Tyr279Asp) c.1198T>G (p.Tyr400Asp) | |
| X | g.149482931A>G | CA414518022 | IDS | c.1468T>C (p.Tyr490His) c.835T>C (p.Tyr279His) c.1198T>C (p.Tyr400His) | |
| X | g.149482931A>T | CA414518023 | IDS | c.1468T>A (p.Tyr490Asn) c.835T>A (p.Tyr279Asn) c.1198T>A (p.Tyr400Asn) | |
| X | g.149482932G>A | CA519057478 | IDS | c.1467C>T (p.Gly489=) c.834C>T (p.Gly278=) c.1197C>T (p.Gly399=) | |
| X | g.149482932G>C | CA519057480 | IDS | c.1467C>G (p.Gly489=) c.834C>G (p.Gly278=) c.1197C>G (p.Gly399=) | |
| X | g.149482932G>T | CA519057479 | IDS | c.1467C>A (p.Gly489=) c.834C>A (p.Gly278=) c.1197C>A (p.Gly399=) | |
| X | g.149482933C>A | CA414518025 | IDS | c.1466G>T (p.Gly489Val) c.833G>T (p.Gly278Val) c.1196G>T (p.Gly399Val) | |
| X | g.149482933C= | CA2465003980 | IDS | c.1466G= (p.Gly489=) c.833G= (p.Gly278=) c.1196G= (p.Gly399=) | |
| X | g.149482933C>G | CA356488 | IDS | c.1466G>C (p.Gly489Ala) c.833G>C (p.Gly278Ala) c.1196G>C (p.Gly399Ala) | ClinVar dbSNP |
| X | g.[149482933C>G;149482935C>A] | CA356492 | IDS | c.[1464G>T;1466G>C] (p.[Met488Ile;Gly489Ala]) c.[831G>T;833G>C] (p.[Met277Ile;Gly278Ala]) c.[1194G>T;1196G>C] (p.[Met398Ile;Gly399Ala]) | ClinVar |
| X | g.149482933C>T | CA414518026 | IDS | c.1466G>A (p.Gly489Asp) c.833G>A (p.Gly278Asp) c.1196G>A (p.Gly399Asp) | |
| X | g.149482935del | CA2499226407 | IDS | c.1466del (p.Gly489AlafsTer7) c.833del (p.Gly278AlafsTer7) c.1196del (p.Gly399AlafsTer7) | ClinVar dbSNP |
| X | g.149482933_149482945delinsTCCATGATCTTTG | CA2695236486 | IDS | c.1454_1466delinsCAAAGATCATGGA (p.Ile485_Gly489delinsThrLysIleMetAsp) c.821_833delinsCAAAGATCATGGA (p.Ile274_Gly278delinsThrLysIleMetAsp) c.1184_1196delinsCAAAGATCATGGA (p.Ile395_Gly399delinsThrLysIleMetAsp) | |
| X | g.149482934C>A | CA414518027 | IDS | c.1465G>T (p.Gly489Cys) c.832G>T (p.Gly278Cys) c.1195G>T (p.Gly399Cys) | |
| X | g.149482934C>G | CA414518028 | IDS | c.1465G>C (p.Gly489Arg) c.832G>C (p.Gly278Arg) c.1195G>C (p.Gly399Arg) | |
| X | g.149482934C>T | CA414518029 | IDS | c.1465G>A (p.Gly489Ser) c.832G>A (p.Gly278Ser) c.1195G>A (p.Gly399Ser) | |
| X | g.149482935C>A | CA356490 | IDS | c.1464G>T (p.Met488Ile) c.831G>T (p.Met277Ile) c.1194G>T (p.Met398Ile) | dbSNP |
| X | g.149482935C= | CA2465003981 | IDS | c.1464G= (p.Met488=) c.831G= (p.Met277=) c.1194G= (p.Met398=) | |
| X | g.149482935C>G | CA414518030 | IDS | c.1464G>C (p.Met488Ile) c.831G>C (p.Met277Ile) c.1194G>C (p.Met398Ile) | |
| X | g.149482935C>T | CA414518031 | IDS | c.1464G>A (p.Met488Ile) c.831G>A (p.Met277Ile) c.1194G>A (p.Met398Ile) | gnomAD v4 |
| X | g.149482935_149482936delinsCA | CA2465003982 | IDS | c.1463_1464delinsTG (p.Met488=) c.830_831delinsTG (p.Met277=) c.1193_1194delinsTG (p.Met398=) | |
| X | g.149482936del | CA356957 | IDS | c.1463del (p.Met488ArgfsTer8) c.830del (p.Met277ArgfsTer8) c.1193del (p.Met398ArgfsTer8) | ClinVar dbSNP |
| X | g.149482936A>C | CA414518033 | IDS | c.1463T>G (p.Met488Arg) c.830T>G (p.Met277Arg) c.1193T>G (p.Met398Arg) | |
| X | g.149482936A>G | CA414518034 | IDS | c.1463T>C (p.Met488Thr) c.830T>C (p.Met277Thr) c.1193T>C (p.Met398Thr) | |
| X | g.149482936A>T | CA414518032 | IDS | c.1463T>A (p.Met488Lys) c.830T>A (p.Met277Lys) c.1193T>A (p.Met398Lys) | |
| X | g.149482936_149482937insC | CA2695236487 | IDS | c.1462_1463insG (p.Met488SerfsTer11) c.829_830insG (p.Met277SerfsTer11) c.1192_1193insG (p.Met398SerfsTer11) | |
| X | g.149482937T>A | CA414518035 | IDS | c.1462A>T (p.Met488Leu) c.829A>T (p.Met277Leu) c.1192A>T (p.Met398Leu) | |
| X | g.149482937T>C | CA414518036 | IDS | c.1462A>G (p.Met488Val) c.829A>G (p.Met277Val) c.1192A>G (p.Met398Val) | gnomAD v4 |
| X | g.149482937T>G | CA414518037 | IDS | c.1462A>C (p.Met488Leu) c.829A>C (p.Met277Leu) c.1192A>C (p.Met398Leu) | |
| X | g.149482938G>A | CA519057481 | IDS | c.1461C>T (p.Ile487=) c.828C>T (p.Ile276=) c.1191C>T (p.Ile397=) | |
| X | g.149482938G>C | CA414518038 | IDS | c.1461C>G (p.Ile487Met) c.828C>G (p.Ile276Met) c.1191C>G (p.Ile397Met) | |
| X | g.149482938G>T | CA519057482 | IDS | c.1461C>A (p.Ile487=) c.828C>A (p.Ile276=) c.1191C>A (p.Ile397=) | |
| X | g.149482939A>C | CA414518041 | IDS | c.1460T>G (p.Ile487Ser) c.827T>G (p.Ile276Ser) c.1190T>G (p.Ile397Ser) | |
| X | g.149482939A>G | CA414518040 | IDS | c.1460T>C (p.Ile487Thr) c.827T>C (p.Ile276Thr) c.1190T>C (p.Ile397Thr) | |
| X | g.149482939A>T | CA414518039 | IDS | c.1460T>A (p.Ile487Asn) c.827T>A (p.Ile276Asn) c.1190T>A (p.Ile397Asn) | |
| X | g.149482940_149483166del | CA2695236488 | IDS | c.1234_1460del (p.Gly412HisfsTer11) c.601_827del (p.Gly201HisfsTer11) c.964_1190del (p.Gly322HisfsTer11) | |
| X | g.149482940T>A | CA414518042 | IDS | c.1459A>T (p.Ile487Phe) c.826A>T (p.Ile276Phe) c.1189A>T (p.Ile397Phe) | |
| X | g.149482940T>C | CA414518043 | IDS | c.1459A>G (p.Ile487Val) c.826A>G (p.Ile276Val) c.1189A>G (p.Ile397Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.149482940T>G | CA414518044 | IDS | c.1459A>C (p.Ile487Leu) c.826A>C (p.Ile276Leu) c.1189A>C (p.Ile397Leu) | |
| X | g.149482940T= | CA2465003983 | IDS | c.1459A= (p.Ile487=) c.826A= (p.Ile276=) c.1189A= (p.Ile397=) | |
| X | g.149482941C>A | CA414518045 | IDS | c.1458G>T (p.Lys486Asn) c.825G>T (p.Lys275Asn) c.1188G>T (p.Lys396Asn) | gnomAD v4 |
| X | g.149482941C= | CA2465003984 | IDS | c.1458G= (p.Lys486=) c.825G= (p.Lys275=) c.1188G= (p.Lys396=) | |
| X | g.149482941C>G | CA414518046 | IDS | c.1458G>C (p.Lys486Asn) c.825G>C (p.Lys275Asn) c.1188G>C (p.Lys396Asn) | |
| X | g.149482941C>T | CA10537442 | IDS | c.1458G>A (p.Lys486=) c.825G>A (p.Lys275=) c.1188G>A (p.Lys396=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482942T>A | CA414518049 | IDS | c.1457A>T (p.Lys486Met) c.824A>T (p.Lys275Met) c.1187A>T (p.Lys396Met) | |
| X | g.149482942T>C | CA414518048 | IDS | c.1457A>G (p.Lys486Arg) c.824A>G (p.Lys275Arg) c.1187A>G (p.Lys396Arg) | gnomAD v4 |
| X | g.149482942T>G | CA414518047 | IDS | c.1457A>C (p.Lys486Thr) c.824A>C (p.Lys275Thr) c.1187A>C (p.Lys396Thr) | |
| X | g.149482943_149482964dup | CA2499226408 | IDS | c.1436_1457dup (p.Ile487AlafsTer19) c.803_824dup (p.Ile276AlafsTer19) c.1166_1187dup (p.Ile397AlafsTer19) | ClinVar dbSNP |
| X | g.149482943T>A | CA414518050 | IDS | c.1456A>T (p.Lys486Ter) c.823A>T (p.Lys275Ter) c.1186A>T (p.Lys396Ter) | |
| X | g.149482943T>C | CA414518051 | IDS | c.1456A>G (p.Lys486Glu) c.823A>G (p.Lys275Glu) c.1186A>G (p.Lys396Glu) | |
| X | g.149482943T>G | CA414518052 | IDS | c.1456A>C (p.Lys486Gln) c.823A>C (p.Lys275Gln) c.1186A>C (p.Lys396Gln) | |
| X | g.149482943_149482945delinsTTA | CA2465003985 | IDS | c.1454_1456delinsTAA (p.Ile485=) c.821_823delinsTAA (p.Ile274=) c.1184_1186delinsTAA (p.Ile395=) | |
| X | g.149482944T>A | CA519057483 | IDS | c.1455A>T (p.Ile485=) c.822A>T (p.Ile274=) c.1185A>T (p.Ile395=) | |
| X | g.149482944T>C | CA414518053 | IDS | c.1455A>G (p.Ile485Met) c.822A>G (p.Ile274Met) c.1185A>G (p.Ile395Met) | |
| X | g.149482944T>G | CA519057484 | IDS | c.1455A>C (p.Ile485=) c.822A>C (p.Ile274=) c.1185A>C (p.Ile395=) | |
| X | g.149482947_149482948del | CA916084005 | IDS | c.1454_1455del (p.Ile485LysfsTer13) c.821_822del (p.Ile274LysfsTer13) c.1184_1185del (p.Ile395LysfsTer13) | ClinVar dbSNP |
| X | g.149482945A= | CA2465003986 | IDS | c.1454T= (p.Ile485=) c.821T= (p.Ile274=) c.1184T= (p.Ile395=) | |
| X | g.149482945A>C | CA414518054 | IDS | c.1454T>G (p.Ile485Arg) c.821T>G (p.Ile274Arg) c.1184T>G (p.Ile395Arg) | |
| X | g.149482945A>G | CA10537443 | IDS | c.1454T>C (p.Ile485Thr) c.821T>C (p.Ile274Thr) c.1184T>C (p.Ile395Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482945A>T | CA414518055 | IDS | c.1454T>A (p.Ile485Lys) c.821T>A (p.Ile274Lys) c.1184T>A (p.Ile395Lys) | ClinVar dbSNP |
| X | g.149482946T>A | CA414518056 | IDS | c.1453A>T (p.Ile485Leu) c.820A>T (p.Ile274Leu) c.1183A>T (p.Ile395Leu) | |
| X | g.149482946T>C | CA414518057 | IDS | c.1453A>G (p.Ile485Val) c.820A>G (p.Ile274Val) c.1183A>G (p.Ile395Val) | |
| X | g.149482946T>G | CA414518058 | IDS | c.1453A>C (p.Ile485Leu) c.820A>C (p.Ile274Leu) c.1183A>C (p.Ile395Leu) | |
| X | g.149482946dup | CA2695236489 | IDS | c.1453dup (p.Ile485AsnfsTer14) c.820dup (p.Ile274AsnfsTer14) c.1183dup (p.Ile395AsnfsTer14) | |
| X | g.149482947A>C | CA414518059 | IDS | c.1452T>G (p.Asp484Glu) c.819T>G (p.Asp273Glu) c.1182T>G (p.Asp394Glu) | |
| X | g.149482947A>G | CA519057485 | IDS | c.1452T>C (p.Asp484=) c.819T>C (p.Asp273=) c.1182T>C (p.Asp394=) | ClinVar |
| X | g.149482947A>T | CA414518060 | IDS | c.1452T>A (p.Asp484Glu) c.819T>A (p.Asp273Glu) c.1182T>A (p.Asp394Glu) | |
| X | g.149482948T>A | CA414518062 | IDS | c.1451A>T (p.Asp484Val) c.818A>T (p.Asp273Val) c.1181A>T (p.Asp394Val) | |
| X | g.149482948T>C | CA414518063 | IDS | c.1451A>G (p.Asp484Gly) c.818A>G (p.Asp273Gly) c.1181A>G (p.Asp394Gly) | |
| X | g.149482948T>G | CA414518061 | IDS | c.1451A>C (p.Asp484Ala) c.818A>C (p.Asp273Ala) c.1181A>C (p.Asp394Ala) | |
| X | g.149482949C>A | CA414518064 | IDS | c.1450G>T (p.Asp484Tyr) c.817G>T (p.Asp273Tyr) c.1180G>T (p.Asp394Tyr) | |
| X | g.149482949C>G | CA414518065 | IDS | c.1450G>C (p.Asp484His) c.817G>C (p.Asp273His) c.1180G>C (p.Asp394His) | gnomAD v4 |
| X | g.149482949C>T | CA414518066 | IDS | c.1450G>A (p.Asp484Asn) c.817G>A (p.Asp273Asn) c.1180G>A (p.Asp394Asn) | |
| X | g.149482952_149482964del | CA519057486 | IDS | c.1438_1450del (p.Pro480IlefsTer2) c.805_817del (p.Pro269IlefsTer2) c.1168_1180del (p.Pro390IlefsTer2) | |
| 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.149482950T>A | CA414518067 | IDS | c.1449A>T (p.Lys483Asn) c.816A>T (p.Lys272Asn) c.1179A>T (p.Lys393Asn) | |
| X | g.149482950T>C | CA519057487 | IDS | c.1449A>G (p.Lys483=) c.816A>G (p.Lys272=) c.1179A>G (p.Lys393=) | |
| X | g.149482950T>G | CA414518068 | IDS | c.1449A>C (p.Lys483Asn) c.816A>C (p.Lys272Asn) c.1179A>C (p.Lys393Asn) | |
| X | g.149482953del | CA645610074 | IDS | c.1449del (p.Asp484IlefsTer2) c.816del (p.Asp273IlefsTer2) c.1179del (p.Asp394IlefsTer2) | COSMIC |
| X | g.149482951T>A | CA414518071 | IDS | c.1448A>T (p.Lys483Ile) c.815A>T (p.Lys272Ile) c.1178A>T (p.Lys393Ile) | |
| X | g.149482951T>C | CA414518069 | IDS | c.1448A>G (p.Lys483Arg) c.815A>G (p.Lys272Arg) c.1178A>G (p.Lys393Arg) | |
| X | g.149482951T>G | CA414518070 | IDS | c.1448A>C (p.Lys483Thr) c.815A>C (p.Lys272Thr) c.1178A>C (p.Lys393Thr) | |
| X | g.149482952T>A | CA414518072 | IDS | c.1447A>T (p.Lys483Ter) c.814A>T (p.Lys272Ter) c.1177A>T (p.Lys393Ter) | |
| X | g.149482952T>C | CA414518073 | IDS | c.1447A>G (p.Lys483Glu) c.814A>G (p.Lys272Glu) c.1177A>G (p.Lys393Glu) | ClinVar dbSNP |
| X | g.149482952T>G | CA414518074 | IDS | c.1447A>C (p.Lys483Gln) c.814A>C (p.Lys272Gln) c.1177A>C (p.Lys393Gln) | |
| X | g.149482953T>A | CA414518075 | IDS | c.1446A>T (p.Leu482Phe) c.813A>T (p.Leu271Phe) c.1176A>T (p.Leu392Phe) | |
| X | g.149482953T>C | CA519057488 | IDS | c.1446A>G (p.Leu482=) c.813A>G (p.Leu271=) c.1176A>G (p.Leu392=) | |
| X | g.149482953T>G | CA414518076 | IDS | c.1446A>C (p.Leu482Phe) c.813A>C (p.Leu271Phe) c.1176A>C (p.Leu392Phe) | |
| X | g.149482954A>C | CA414518079 | IDS | c.1445T>G (p.Leu482Ter) c.812T>G (p.Leu271Ter) c.1175T>G (p.Leu392Ter) | ClinVar |
| X | g.149482954A>G | CA414518078 | IDS | c.1445T>C (p.Leu482Ser) c.812T>C (p.Leu271Ser) c.1175T>C (p.Leu392Ser) | |
| X | g.149482954A>T | CA414518077 | IDS | c.1445T>A (p.Leu482Ter) c.812T>A (p.Leu271Ter) c.1175T>A (p.Leu392Ter) | |
| X | g.149482955_149482956dup | CA2695236490 | IDS | c.1444_1445dup (p.Leu482PhefsTer2) c.811_812dup (p.Leu271PhefsTer2) c.1174_1175dup (p.Leu392PhefsTer2) | |
| X | g.149482955A= | CA2465003987 | IDS | c.1444T= (p.Leu482=) c.811T= (p.Leu271=) c.1174T= (p.Leu392=) | |
| X | g.149482955A>C | CA414518080 | IDS | c.1444T>G (p.Leu482Val) c.811T>G (p.Leu271Val) c.1174T>G (p.Leu392Val) | |
| X | g.149482955A>G | CA519057489 | IDS | c.1444T>C (p.Leu482=) c.811T>C (p.Leu271=) c.1174T>C (p.Leu392=) | |
| X | g.149482955A>T | CA10537444 | IDS | c.1444T>A (p.Leu482Ile) c.811T>A (p.Leu271Ile) c.1174T>A (p.Leu392Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482955_149482956insTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGG | CA10537445 | IDS | c.1443_1444insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA (p.Leu482ProfsTer24) c.810_811insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA (p.Leu271ProfsTer24) c.1173_1174insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA (p.Leu392ProfsTer24) | ExAC |
| X | g.149482956A>C | CA414518081 | IDS | c.1443T>G (p.Ser481Arg) c.810T>G (p.Ser270Arg) c.1173T>G (p.Ser391Arg) | |
| X | g.149482956A>G | CA519057490 | IDS | c.1443T>C (p.Ser481=) c.810T>C (p.Ser270=) c.1173T>C (p.Ser391=) | ClinVar |
| X | g.149482956A>T | CA414518082 | IDS | c.1443T>A (p.Ser481Arg) c.810T>A (p.Ser270Arg) c.1173T>A (p.Ser391Arg) | |
| X | g.149482956_149482961delinsACTCGG | CA2465003988 | IDS | c.1438_1443delinsCCGAGT (p.Pro480=) c.805_810delinsCCGAGT (p.Pro269=) c.1168_1173delinsCCGAGT (p.Pro390=) | |
| X | g.149482957C>A | CA414518083 | IDS | c.1442G>T (p.Ser481Ile) c.809G>T (p.Ser270Ile) c.1172G>T (p.Ser391Ile) | |
| X | g.149482957C>G | CA414518085 | IDS | c.1442G>C (p.Ser481Thr) c.809G>C (p.Ser270Thr) c.1172G>C (p.Ser391Thr) | |
| X | g.149482957C>T | CA414518084 | IDS | c.1442G>A (p.Ser481Asn) c.809G>A (p.Ser270Asn) c.1172G>A (p.Ser391Asn) | |
| X | g.149482957delinsGA | CA2499226409 | IDS | c.1442delinsTC (p.Ser481IlefsTer18) c.809delinsTC (p.Ser270IlefsTer18) c.1172delinsTC (p.Ser391IlefsTer18) | ClinVar dbSNP |
| X | g.149482959_149482963del | CA2465003989 | IDS | c.1438_1442del (p.Pro480PhefsTer17) c.805_809del (p.Pro269PhefsTer17) c.1168_1172del (p.Pro390PhefsTer17) | ClinVar dbSNP |
| X | g.149482958T>A | CA414518086 | IDS | c.1441A>T (p.Ser481Cys) c.808A>T (p.Ser270Cys) c.1171A>T (p.Ser391Cys) | |
| X | g.149482958T>C | CA414518087 | IDS | c.1441A>G (p.Ser481Gly) c.808A>G (p.Ser270Gly) c.1171A>G (p.Ser391Gly) | |
| X | g.149482958T>G | CA414518088 | IDS | c.1441A>C (p.Ser481Arg) c.808A>C (p.Ser270Arg) c.1171A>C (p.Ser391Arg) | |
| X | g.149482959C>A | CA519173757 | IDS | c.1440G>T (p.Pro480=) c.807G>T (p.Pro269=) c.1170G>T (p.Pro390=) | |
| X | g.149482959C= | CA2465003990 | IDS | c.1440G= (p.Pro480=) c.807G= (p.Pro269=) c.1170G= (p.Pro390=) | |
| X | g.149482959C>G | CA519173761 | IDS | c.1440G>C (p.Pro480=) c.807G>C (p.Pro269=) c.1170G>C (p.Pro390=) | |
| X | g.149482959C>T | CA519173762 | IDS | c.1440G>A (p.Pro480=) c.807G>A (p.Pro269=) c.1170G>A (p.Pro390=) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.149482960G>A | CA414518089 | IDS | c.1439C>T (p.Pro480Leu) c.806C>T (p.Pro269Leu) c.1169C>T (p.Pro390Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.149482960G>C | CA414518090 | IDS | c.1439C>G (p.Pro480Arg) c.806C>G (p.Pro269Arg) c.1169C>G (p.Pro390Arg) | |
| X | g.149482960G>T | CA414518091 | IDS | c.1439C>A (p.Pro480Gln) c.806C>A (p.Pro269Gln) c.1169C>A (p.Pro390Gln) | |
| X | g.149482961G>A | CA10537446 | IDS | c.1438C>T (p.Pro480Ser) c.805C>T (p.Pro269Ser) c.1168C>T (p.Pro390Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482961G>C | CA414518092 | IDS | c.1438C>G (p.Pro480Ala) c.805C>G (p.Pro269Ala) c.1168C>G (p.Pro390Ala) | |
| X | g.149482961G= | CA2465003991 | IDS | c.1438C= (p.Pro480=) c.805C= (p.Pro269=) c.1168C= (p.Pro390=) | |
| X | g.149482961G>T | CA414518093 | IDS | c.1438C>A (p.Pro480Thr) c.805C>A (p.Pro269Thr) c.1168C>A (p.Pro390Thr) | |
| X | g.149482961_149482973delinsGCTTGTCAGAATT | CA2465003992 | IDS | c.1426_1438delinsAATTCTGACAAGC (p.Asn476=) c.793_805delinsAATTCTGACAAGC (p.Asn265=) c.1156_1168delinsAATTCTGACAAGC (p.Asn386=) | |
| X | g.149482962C>A | CA414518094 | IDS | c.1437G>T (p.Lys479Asn) c.804G>T (p.Lys268Asn) c.1167G>T (p.Lys389Asn) | |
| X | g.149482962C>G | CA414518095 | IDS | c.1437G>C (p.Lys479Asn) c.804G>C (p.Lys268Asn) c.1167G>C (p.Lys389Asn) | |
| X | g.149482962C>T | CA519173771 | IDS | c.1437G>A (p.Lys479=) c.804G>A (p.Lys268=) c.1167G>A (p.Lys389=) | |
| X | g.149482963_149482974del | CA2465003993 | IDS | c.1426_1437del (p.Asn476_Lys479del) c.793_804del (p.Asn265_Lys268del) c.1156_1167del (p.Asn386_Lys389del) | ClinVar dbSNP |
| X | g.149482963T>A | CA414518096 | IDS | c.1436A>T (p.Lys479Met) c.803A>T (p.Lys268Met) c.1166A>T (p.Lys389Met) | |
| X | g.149482963T>C | CA414518097 | IDS | c.1436A>G (p.Lys479Arg) c.803A>G (p.Lys268Arg) c.1166A>G (p.Lys389Arg) | |
| X | g.149482963T>G | CA414518098 | IDS | c.1436A>C (p.Lys479Thr) c.803A>C (p.Lys268Thr) c.1166A>C (p.Lys389Thr) | |
| X | g.149482964T>A | CA414518099 | IDS | c.1435A>T (p.Lys479Ter) c.802A>T (p.Lys268Ter) c.1165A>T (p.Lys389Ter) | |
| X | g.149482964T>C | CA414518101 | IDS | c.1435A>G (p.Lys479Glu) c.802A>G (p.Lys268Glu) c.1165A>G (p.Lys389Glu) | |
| X | g.149482964T>G | CA414518100 | IDS | c.1435A>C (p.Lys479Gln) c.802A>C (p.Lys268Gln) c.1165A>C (p.Lys389Gln) | |
| X | g.149482965G>A | CA519173775 | IDS | c.1434C>T (p.Asp478=) c.801C>T (p.Asp267=) c.1164C>T (p.Asp388=) | ClinVar gnomAD v4 |
| X | g.149482965G>C | CA414518102 | IDS | c.1434C>G (p.Asp478Glu) c.801C>G (p.Asp267Glu) c.1164C>G (p.Asp388Glu) | |
| X | g.149482965G>T | CA414518103 | IDS | c.1434C>A (p.Asp478Glu) c.801C>A (p.Asp267Glu) c.1164C>A (p.Asp388Glu) | |
| X | g.149482966del | CA2695236491 | IDS | c.1433del (p.Asp478AlafsTer5) c.800del (p.Asp267AlafsTer5) c.1163del (p.Asp388AlafsTer5) | |
| X | g.149482966T>A | CA414518104 | IDS | c.1433A>T (p.Asp478Val) c.800A>T (p.Asp267Val) c.1163A>T (p.Asp388Val) | |
| X | g.149482966T>C | CA349811 | IDS | c.1433A>G (p.Asp478Gly) c.800A>G (p.Asp267Gly) c.1163A>G (p.Asp388Gly) | ClinVar dbSNP |
| X | g.149482966T>G | CA414518105 | IDS | c.1433A>C (p.Asp478Ala) c.800A>C (p.Asp267Ala) c.1163A>C (p.Asp388Ala) | |
| X | g.149482966T= | CA2465003994 | IDS | c.1433A= (p.Asp478=) c.800A= (p.Asp267=) c.1163A= (p.Asp388=) | |
| X | g.149482967C>A | CA414518106 | IDS | c.1432G>T (p.Asp478Tyr) c.799G>T (p.Asp267Tyr) c.1162G>T (p.Asp388Tyr) | |
| X | g.149482967C>G | CA414518107 | IDS | c.1432G>C (p.Asp478His) c.799G>C (p.Asp267His) c.1162G>C (p.Asp388His) | |
| X | g.149482967C>T | CA414518108 | IDS | c.1432G>A (p.Asp478Asn) c.799G>A (p.Asp267Asn) c.1162G>A (p.Asp388Asn) | |
| X | g.149482967_149482968delinsCA | CA2465003995 | IDS | c.1431_1432delinsTG (p.Ser477=) c.798_799delinsTG (p.Ser266=) c.1161_1162delinsTG (p.Ser387=) | |
| X | g.149482968del | CA2465003996 | IDS | c.1431del (p.Asp478ThrfsTer5) c.798del (p.Asp267ThrfsTer5) c.1161del (p.Asp388ThrfsTer5) | ClinVar dbSNP |
| X | g.149482968A>C | CA519173782 | IDS | c.1431T>G (p.Ser477=) c.798T>G (p.Ser266=) c.1161T>G (p.Ser387=) | |
| X | g.149482968A>G | CA519173783 | IDS | c.1431T>C (p.Ser477=) c.798T>C (p.Ser266=) c.1161T>C (p.Ser387=) | |
| X | g.149482968A>T | CA519173784 | IDS | c.1431T>A (p.Ser477=) c.798T>A (p.Ser266=) c.1161T>A (p.Ser387=) | |
| X | g.149482969G>A | CA414518109 | IDS | c.1430C>T (p.Ser477Phe) c.797C>T (p.Ser266Phe) c.1160C>T (p.Ser387Phe) | COSMIC |
| X | g.149482969G>C | CA414518110 | IDS | c.1430C>G (p.Ser477Cys) c.797C>G (p.Ser266Cys) c.1160C>G (p.Ser387Cys) | |
| X | g.149482969G>T | CA414518111 | IDS | c.1430C>A (p.Ser477Tyr) c.797C>A (p.Ser266Tyr) c.1160C>A (p.Ser387Tyr) | |
| X | g.149482970A>C | CA414518112 | IDS | c.1429T>G (p.Ser477Ala) c.796T>G (p.Ser266Ala) c.1159T>G (p.Ser387Ala) | |
| X | g.149482970A>G | CA414518114 | IDS | c.1429T>C (p.Ser477Pro) c.796T>C (p.Ser266Pro) c.1159T>C (p.Ser387Pro) | |
| X | g.149482970A>T | CA414518113 | IDS | c.1429T>A (p.Ser477Thr) c.796T>A (p.Ser266Thr) c.1159T>A (p.Ser387Thr) | |
| X | g.149482971A>C | CA414518115 | IDS | c.1428T>G (p.Asn476Lys) c.795T>G (p.Asn265Lys) c.1158T>G (p.Asn386Lys) | |
| X | g.149482971A>G | CA519173789 | IDS | c.1428T>C (p.Asn476=) c.795T>C (p.Asn265=) c.1158T>C (p.Asn386=) | |
| X | g.149482971A>T | CA414518116 | IDS | c.1428T>A (p.Asn476Lys) c.795T>A (p.Asn265Lys) c.1158T>A (p.Asn386Lys) | |
| X | g.149482972T>A | CA414518117 | IDS | c.1427A>T (p.Asn476Ile) c.794A>T (p.Asn265Ile) c.1157A>T (p.Asn386Ile) | |
| X | g.149482972T>C | CA414518118 | IDS | c.1427A>G (p.Asn476Ser) c.794A>G (p.Asn265Ser) c.1157A>G (p.Asn386Ser) | |
| X | g.149482972T>G | CA414518119 | IDS | c.1427A>C (p.Asn476Thr) c.794A>C (p.Asn265Thr) c.1157A>C (p.Asn386Thr) | |
| X | g.149482973T>A | CA414518120 | IDS | c.1426A>T (p.Asn476Tyr) c.793A>T (p.Asn265Tyr) c.1156A>T (p.Asn386Tyr) | |
| X | g.149482973T>C | CA414518121 | IDS | c.1426A>G (p.Asn476Asp) c.793A>G (p.Asn265Asp) c.1156A>G (p.Asn386Asp) | |
| X | g.149482973T>G | CA414518122 | IDS | c.1426A>C (p.Asn476His) c.793A>C (p.Asn265His) c.1156A>C (p.Asn386His) | |
| X | g.149482974C>A | CA414518123 | IDS | c.1425G>T (p.Trp475Cys) c.792G>T (p.Trp264Cys) c.1155G>T (p.Trp385Cys) | |
| X | g.149482974C= | CA2465003997 | IDS | c.1425G= (p.Trp475=) c.792G= (p.Trp264=) c.1155G= (p.Trp385=) | |
| X | g.149482974C>G | CA414518124 | IDS | c.1425G>C (p.Trp475Cys) c.792G>C (p.Trp264Cys) c.1155G>C (p.Trp385Cys) | |
| X | g.149482974C>T | CA255276 | IDS | c.1425G>A (p.Trp475Ter) c.792G>A (p.Trp264Ter) c.1155G>A (p.Trp385Ter) | ClinVar dbSNP |
| X | g.149482975C>A | CA414518127 | IDS | c.1424G>T (p.Trp475Leu) c.791G>T (p.Trp264Leu) c.1154G>T (p.Trp385Leu) | |
| X | g.149482975C>G | CA414518125 | IDS | c.1424G>C (p.Trp475Ser) c.791G>C (p.Trp264Ser) c.1154G>C (p.Trp385Ser) | |
| X | g.149482975C>T | CA414518126 | IDS | c.1424G>A (p.Trp475Ter) c.791G>A (p.Trp264Ter) c.1154G>A (p.Trp385Ter) | |
| X | g.149482976A>C | CA414518128 | IDS | c.1423T>G (p.Trp475Gly) c.790T>G (p.Trp264Gly) c.1153T>G (p.Trp385Gly) | |
| X | g.149482976A>G | CA414518129 | IDS | c.1423T>C (p.Trp475Arg) c.790T>C (p.Trp264Arg) c.1153T>C (p.Trp385Arg) | |
| X | g.149482976A>T | CA414518130 | IDS | c.1423T>A (p.Trp475Arg) c.790T>A (p.Trp264Arg) c.1153T>A (p.Trp385Arg) | |
| X | g.149482977C>A | CA414518131 | IDS | c.1422G>T (p.Gln474His) c.789G>T (p.Gln263His) c.1152G>T (p.Gln384His) | |
| X | g.149482977C= | CA2465003998 | IDS | c.1422G= (p.Gln474=) c.789G= (p.Gln263=) c.1152G= (p.Gln384=) | |
| X | g.149482977C>G | CA414518132 | IDS | c.1422G>C (p.Gln474His) c.789G>C (p.Gln263His) c.1152G>C (p.Gln384His) | |
| X | g.149482977C>T | CA519173807 | IDS | c.1422G>A (p.Gln474=) c.789G>A (p.Gln263=) c.1152G>A (p.Gln384=) | ClinVar dbSNP gnomAD v4 |
| X | g.149482977_149482978del | CA2695236492 | IDS | c.1421_1422del (p.Gln474LeufsTer4) c.788_789del (p.Gln263LeufsTer4) c.1151_1152del (p.Gln384LeufsTer4) | |
| X | g.149482978T>A | CA414518133 | IDS | c.1421A>T (p.Gln474Leu) c.788A>T (p.Gln263Leu) c.1151A>T (p.Gln384Leu) | |
| X | g.149482978T>C | CA414518134 | IDS | c.1421A>G (p.Gln474Arg) c.788A>G (p.Gln263Arg) c.1151A>G (p.Gln384Arg) | gnomAD v4 |
| X | g.149482978T>G | CA414518135 | IDS | c.1421A>C (p.Gln474Pro) c.788A>C (p.Gln263Pro) c.1151A>C (p.Gln384Pro) | |
| X | g.149482979G>A | CA414518136 | IDS | c.1420C>T (p.Gln474Ter) c.787C>T (p.Gln263Ter) c.1150C>T (p.Gln384Ter) | |
| X | g.149482979G>C | CA414518137 | IDS | c.1420C>G (p.Gln474Glu) c.787C>G (p.Gln263Glu) c.1150C>G (p.Gln384Glu) | |
| X | g.149482979G= | CA2465003999 | IDS | c.1420C= (p.Gln474=) c.787C= (p.Gln263=) c.1150C= (p.Gln384=) | |
| X | g.149482979G>T | CA10537447 | IDS | c.1420C>A (p.Gln474Lys) c.787C>A (p.Gln263Lys) c.1150C>A (p.Gln384Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482980A>C | CA519173813 | IDS | c.1419T>G (p.Pro473=) c.786T>G (p.Pro262=) c.1149T>G (p.Pro383=) | |
| X | g.149482980A>G | CA519173814 | IDS | c.1419T>C (p.Pro473=) c.786T>C (p.Pro262=) c.1149T>C (p.Pro383=) | |
| X | g.149482980A>T | CA519173815 | IDS | c.1419T>A (p.Pro473=) c.786T>A (p.Pro262=) c.1149T>A (p.Pro383=) | |
| X | g.149482981G>A | CA414518139 | IDS | c.1418C>T (p.Pro473Leu) c.785C>T (p.Pro262Leu) c.1148C>T (p.Pro383Leu) | ClinVar dbSNP |
| X | g.[149482981G>A;149482988C>G] | CA2499306187 | IDS | c.[1411G>C;1418C>T] (p.[Asp471His;Pro473Leu]) c.[778G>C;785C>T] (p.[Asp260His;Pro262Leu]) c.[1141G>C;1148C>T] (p.[Asp381His;Pro383Leu]) | ClinVar |
| X | g.149482981G>C | CA414518140 | IDS | c.1418C>G (p.Pro473Arg) c.785C>G (p.Pro262Arg) c.1148C>G (p.Pro383Arg) | |
| X | g.149482981G= | CA2465004000 | IDS | c.1418C= (p.Pro473=) c.785C= (p.Pro262=) c.1148C= (p.Pro383=) | |
| X | g.149482981G>T | CA414518138 | IDS | c.1418C>A (p.Pro473His) c.785C>A (p.Pro262His) c.1148C>A (p.Pro383His) | |
| X | g.149482983del | CA519173820 | IDS | c.1418del (p.Pro473LeufsTer10) c.785del (p.Pro262LeufsTer10) c.1148del (p.Pro383LeufsTer10) | |
| X | g.149482982G>A | CA414518143 | IDS | c.1417C>T (p.Pro473Ser) c.784C>T (p.Pro262Ser) c.1147C>T (p.Pro383Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.149482982G>C | CA414518141 | IDS | c.1417C>G (p.Pro473Ala) c.784C>G (p.Pro262Ala) c.1147C>G (p.Pro383Ala) | |
| X | g.149482982G>T | CA414518142 | IDS | c.1417C>A (p.Pro473Thr) c.784C>A (p.Pro262Thr) c.1147C>A (p.Pro383Thr) | |
| X | g.149482983G>A | CA519173825 | IDS | c.1416C>T (p.Ile472=) c.783C>T (p.Ile261=) c.1146C>T (p.Ile382=) | ClinVar dbSNP gnomAD v4 |
| X | g.149482983G>C | CA414518144 | IDS | c.1416C>G (p.Ile472Met) c.783C>G (p.Ile261Met) c.1146C>G (p.Ile382Met) | |
| X | g.149482983G>T | CA519173827 | IDS | c.1416C>A (p.Ile472=) c.783C>A (p.Ile261=) c.1146C>A (p.Ile382=) | |
| X | g.149482984A>C | CA414518145 | IDS | c.1415T>G (p.Ile472Ser) c.782T>G (p.Ile261Ser) c.1145T>G (p.Ile382Ser) | |
| X | g.149482984A>G | CA414518146 | IDS | c.1415T>C (p.Ile472Thr) c.782T>C (p.Ile261Thr) c.1145T>C (p.Ile382Thr) | |
| X | g.149482984A>T | CA414518147 | IDS | c.1415T>A (p.Ile472Asn) c.782T>A (p.Ile261Asn) c.1145T>A (p.Ile382Asn) | |
| X | g.149482985T>A | CA414518148 | IDS | c.1414A>T (p.Ile472Phe) c.781A>T (p.Ile261Phe) c.1144A>T (p.Ile382Phe) | dbSNP |
| X | g.149482985T>C | CA414518149 | IDS | c.1414A>G (p.Ile472Val) c.781A>G (p.Ile261Val) c.1144A>G (p.Ile382Val) | |
| X | g.149482985T>G | CA414518150 | IDS | c.1414A>C (p.Ile472Leu) c.781A>C (p.Ile261Leu) c.1144A>C (p.Ile382Leu) | |
| X | g.149482985T= | CA2465004001 | IDS | c.1414A= (p.Ile472=) c.781A= (p.Ile261=) c.1144A= (p.Ile382=) | |
| X | g.149482986G>A | CA519173843 | IDS | c.1413C>T (p.Asp471=) c.780C>T (p.Asp260=) c.1143C>T (p.Asp381=) | |
| X | g.149482986G>C | CA414518151 | IDS | c.1413C>G (p.Asp471Glu) c.780C>G (p.Asp260Glu) c.1143C>G (p.Asp381Glu) | |
| X | g.149482986G>T | CA414518152 | IDS | c.1413C>A (p.Asp471Glu) c.780C>A (p.Asp260Glu) c.1143C>A (p.Asp381Glu) | |
| X | g.149482987T>A | CA414518155 | IDS | c.1412A>T (p.Asp471Val) c.779A>T (p.Asp260Val) c.1142A>T (p.Asp381Val) | |
| X | g.149482987T>C | CA414518154 | IDS | c.1412A>G (p.Asp471Gly) c.779A>G (p.Asp260Gly) c.1142A>G (p.Asp381Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149482987T>G | CA414518153 | IDS | c.1412A>C (p.Asp471Ala) c.779A>C (p.Asp260Ala) c.1142A>C (p.Asp381Ala) | |
| X | g.149482987T= | CA2465004002 | IDS | c.1412A= (p.Asp471=) c.779A= (p.Asp260=) c.1142A= (p.Asp381=) | |
| X | g.149482988_149482989del | CA2695236493 | IDS | c.1411_1412del (p.Asp471HisfsTer7) c.778_779del (p.Asp260HisfsTer7) c.1141_1142del (p.Asp381HisfsTer7) | |
| X | g.149482988C>A | CA414518156 | IDS | c.1411G>T (p.Asp471Tyr) c.778G>T (p.Asp260Tyr) c.1141G>T (p.Asp381Tyr) | |
| X | g.149482988C= | CA2465004003 | IDS | c.1411G= (p.Asp471=) c.778G= (p.Asp260=) c.1141G= (p.Asp381=) | |
| X | g.149482988C>G | CA414518157 | IDS | c.1411G>C (p.Asp471His) c.778G>C (p.Asp260His) c.1141G>C (p.Asp381His) | dbSNP |
| X | g.149482988C>T | CA414518158 | IDS | c.1411G>A (p.Asp471Asn) c.778G>A (p.Asp260Asn) c.1141G>A (p.Asp381Asn) | ClinVar |
| X | g.149482989T>A | CA519173849 | IDS | c.1410A>T (p.Ser470=) c.777A>T (p.Ser259=) c.1140A>T (p.Ser380=) | |
| X | g.149482989T>C | CA519173850 | IDS | c.1410A>G (p.Ser470=) c.777A>G (p.Ser259=) c.1140A>G (p.Ser380=) | |
| X | g.149482989T>G | CA519173851 | IDS | c.1410A>C (p.Ser470=) c.777A>C (p.Ser259=) c.1140A>C (p.Ser380=) | |
| X | g.149482989_149482990del | CA2695236494 | IDS | c.1409_1410del (p.Ser470Ter) c.776_777del (p.Ser259Ter) c.1139_1140del (p.Ser380Ter) | |
| X | g.149482990G>A | CA337035526 | IDS | c.1409C>T (p.Ser470Leu) c.776C>T (p.Ser259Leu) c.1139C>T (p.Ser380Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.149482990G>C | CA414518159 | IDS | c.1409C>G (p.Ser470Ter) c.776C>G (p.Ser259Ter) c.1139C>G (p.Ser380Ter) | |
| X | g.149482990G= | CA2465004004 | IDS | c.1409C= (p.Ser470=) c.776C= (p.Ser259=) c.1139C= (p.Ser380=) | |
| X | g.149482990G>T | CA414518160 | IDS | c.1409C>A (p.Ser470Ter) c.776C>A (p.Ser259Ter) c.1139C>A (p.Ser380Ter) | |
| X | g.149482991A>C | CA414518161 | IDS | c.1408T>G (p.Ser470Ala) c.775T>G (p.Ser259Ala) c.1138T>G (p.Ser380Ala) | |
| X | g.149482991A>G | CA414518162 | IDS | c.1408T>C (p.Ser470Pro) c.775T>C (p.Ser259Pro) c.1138T>C (p.Ser380Pro) | |
| X | g.149482991A>T | CA414518163 | IDS | c.1408T>A (p.Ser470Thr) c.775T>A (p.Ser259Thr) c.1138T>A (p.Ser380Thr) | |
| X | g.149482992A>C | CA519173856 | IDS | c.1407T>G (p.Pro469=) c.774T>G (p.Pro258=) c.1137T>G (p.Pro379=) | |
| X | g.149482992A>G | CA519173860 | IDS | c.1407T>C (p.Pro469=) c.774T>C (p.Pro258=) c.1137T>C (p.Pro379=) | |
| X | g.149482992A>T | CA519173861 | IDS | c.1407T>A (p.Pro469=) c.774T>A (p.Pro258=) c.1137T>A (p.Pro379=) | |
| X | g.149482993G>A | CA414518164 | IDS | c.1406C>T (p.Pro469Leu) c.773C>T (p.Pro258Leu) c.1136C>T (p.Pro379Leu) | ClinVar dbSNP |
| X | g.149482993G>C | CA414518165 | IDS | c.1406C>G (p.Pro469Arg) c.773C>G (p.Pro258Arg) c.1136C>G (p.Pro379Arg) | ClinVar |
| X | g.149482993G>T | CA414518166 | IDS | c.1406C>A (p.Pro469His) c.773C>A (p.Pro258His) c.1136C>A (p.Pro379His) | |
| X | g.149482994G>A | CA414518168 | IDS | c.1405C>T (p.Pro469Ser) c.772C>T (p.Pro258Ser) c.1135C>T (p.Pro379Ser) | |
| X | g.149482994G>C | CA414518169 | IDS | c.1405C>G (p.Pro469Ala) c.772C>G (p.Pro258Ala) c.1135C>G (p.Pro379Ala) | dbSNP |
| X | g.149482994G= | CA2465004005 | IDS | c.1405C= (p.Pro469=) c.772C= (p.Pro258=) c.1135C= (p.Pro379=) | |
| X | g.149482994G>T | CA414518167 | IDS | c.1405C>A (p.Pro469Thr) c.772C>A (p.Pro258Thr) c.1135C>A (p.Pro379Thr) | |
| X | g.149482995C>A | CA519173870 | IDS | c.1404G>T (p.Arg468=) c.771G>T (p.Arg257=) c.1134G>T (p.Arg378=) | |
| X | g.149482995C= | CA2465004006 | IDS | c.1404G= (p.Arg468=) c.771G= (p.Arg257=) c.1134G= (p.Arg378=) | |
| X | g.149482995C>G | CA519173869 | IDS | c.1404G>C (p.Arg468=) c.771G>C (p.Arg257=) c.1134G>C (p.Arg378=) | |
| X | g.149482995C>T | CA519173867 | IDS | c.1404G>A (p.Arg468=) c.771G>A (p.Arg257=) c.1134G>A (p.Arg378=) | dbSNP gnomAD v4 |
| X | g.149482996_149483004dup | CA2695236495 | IDS | c.1396_1404dup (p.Arg468_Pro469insTyrProArg) c.763_771dup (p.Arg257_Pro258insTyrProArg) c.1126_1134dup (p.Arg378_Pro379insTyrProArg) | |
| X | g.149482996C>A | CA121099 | IDS | c.1403G>T (p.Arg468Leu) c.770G>T (p.Arg257Leu) c.1133G>T (p.Arg378Leu) | ClinVar dbSNP |
| X | g.149482996C= | CA2465004007 | IDS | c.1403G= (p.Arg468=) c.770G= (p.Arg257=) c.1133G= (p.Arg378=) | |
| X | g.149482996C>G | CA220490 | IDS | c.1403G>C (p.Arg468Pro) c.770G>C (p.Arg257Pro) c.1133G>C (p.Arg378Pro) | ClinVar dbSNP |
| X | g.149482996C>T | CA340992 | IDS | c.1403G>A (p.Arg468Gln) c.770G>A (p.Arg257Gln) c.1133G>A (p.Arg378Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.[149482996C>T;149483005T>A] | CA356679 | IDS | c.[1394A>T;1403G>A] (p.[Gln465Leu;Arg468Gln]) c.[761A>T;770G>A] (p.[Gln254Leu;Arg257Gln]) c.[1124A>T;1133G>A] (p.[Gln375Leu;Arg378Gln]) | ClinVar |
| X | g.149482996_149483005delinsTGGGGATACA | CA2695236496 | IDS | c.1394_1403delinsTGTATCCCCA (p.Gln465_Arg468delinsLeuTyrProGln) c.761_770delinsTGTATCCCCA (p.Gln254_Arg257delinsLeuTyrProGln) c.1124_1133delinsTGTATCCCCA (p.Gln375_Arg378delinsLeuTyrProGln) | |
| X | g.149482997G>A | CA340991 | IDS | c.1402C>T (p.Arg468Trp) c.769C>T (p.Arg257Trp) c.1132C>T (p.Arg378Trp) | ClinVar dbSNP |
| X | g.149482997G>C | CA414518170 | IDS | c.1402C>G (p.Arg468Gly) c.769C>G (p.Arg257Gly) c.1132C>G (p.Arg378Gly) | |
| X | g.149482997G= | CA2465004008 | IDS | c.1402C= (p.Arg468=) c.769C= (p.Arg257=) c.1132C= (p.Arg378=) | |
| X | g.149482997G>T | CA519173873 | IDS | c.1402C>A (p.Arg468=) c.769C>A (p.Arg257=) c.1132C>A (p.Arg378=) | |
| X | g.149483000del | CA2499226410 | IDS | c.1402del (p.Arg468GlyfsTer15) c.769del (p.Arg257GlyfsTer15) c.1132del (p.Arg378GlyfsTer15) | ClinVar dbSNP |
| X | g.149482998G>A | CA519173878 | IDS | c.1401C>T (p.Pro467=) c.768C>T (p.Pro256=) c.1131C>T (p.Pro377=) | |
| X | g.149482998G>C | CA519173879 | IDS | c.1401C>G (p.Pro467=) c.768C>G (p.Pro256=) c.1131C>G (p.Pro377=) | |
| X | g.149482998G>T | CA519173880 | IDS | c.1401C>A (p.Pro467=) c.768C>A (p.Pro256=) c.1131C>A (p.Pro377=) | |
| X | g.149482999G>A | CA414518171 | IDS | c.1400C>T (p.Pro467Leu) c.767C>T (p.Pro256Leu) c.1130C>T (p.Pro377Leu) | ClinVar dbSNP |
| X | g.149482999G>C | CA414518172 | IDS | c.1400C>G (p.Pro467Arg) c.767C>G (p.Pro256Arg) c.1130C>G (p.Pro377Arg) | ClinVar dbSNP |
| X | g.149482999G= | CA2465004009 | IDS | c.1400C= (p.Pro467=) c.767C= (p.Pro256=) c.1130C= (p.Pro377=) | |
| X | g.149482999G>T | CA414518173 | IDS | c.1400C>A (p.Pro467His) c.767C>A (p.Pro256His) c.1130C>A (p.Pro377His) | |
| X | g.149483000G>A | CA414518174 | IDS | c.1399C>T (p.Pro467Ser) c.766C>T (p.Pro256Ser) c.1129C>T (p.Pro377Ser) | |
| X | g.149483000G>C | CA414518175 | IDS | c.1399C>G (p.Pro467Ala) c.766C>G (p.Pro256Ala) c.1129C>G (p.Pro377Ala) | |
| X | g.149483000G>T | CA414518176 | IDS | c.1399C>A (p.Pro467Thr) c.766C>A (p.Pro256Thr) c.1129C>A (p.Pro377Thr) | |
| X | g.149483001A>C | CA414518177 | IDS | c.1398T>G (p.Tyr466Ter) c.765T>G (p.Tyr255Ter) c.1128T>G (p.Tyr376Ter) | |
| X | g.149483001A>G | CA519173886 | IDS | c.1398T>C (p.Tyr466=) c.765T>C (p.Tyr255=) c.1128T>C (p.Tyr376=) | |
| X | g.149483001A>T | CA414518178 | IDS | c.1398T>A (p.Tyr466Ter) c.765T>A (p.Tyr255Ter) c.1128T>A (p.Tyr376Ter) | |
| X | g.149483004_149483012del | CA2695236499 | IDS | c.1390_1398del (p.Ser464_Tyr466del) c.757_765del (p.Ser253_Tyr255del) c.1120_1128del (p.Ser374_Tyr376del) | |
| X | g.149483002T>A | CA414518180 | IDS | c.1397A>T (p.Tyr466Phe) c.764A>T (p.Tyr255Phe) c.1127A>T (p.Tyr376Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149483002T>C | CA337035527 | IDS | c.1397A>G (p.Tyr466Cys) c.764A>G (p.Tyr255Cys) c.1127A>G (p.Tyr376Cys) | dbSNP |
| X | g.149483002T>G | CA414518179 | IDS | c.1397A>C (p.Tyr466Ser) c.764A>C (p.Tyr255Ser) c.1127A>C (p.Tyr376Ser) | |
| X | g.149483002T= | CA2465004010 | IDS | c.1397A= (p.Tyr466=) c.764A= (p.Tyr255=) c.1127A= (p.Tyr376=) | |
| X | g.149483003A>C | CA414518181 | IDS | c.1396T>G (p.Tyr466Asp) c.763T>G (p.Tyr255Asp) c.1126T>G (p.Tyr376Asp) | |
| X | g.149483003A>G | CA414518182 | IDS | c.1396T>C (p.Tyr466His) c.763T>C (p.Tyr255His) c.1126T>C (p.Tyr376His) | |
| X | g.149483003A>T | CA414518183 | IDS | c.1396T>A (p.Tyr466Asn) c.763T>A (p.Tyr255Asn) c.1126T>A (p.Tyr376Asn) | |
| X | g.149483004C>A | CA414518184 | IDS | c.1395G>T (p.Gln465His) c.762G>T (p.Gln254His) c.1125G>T (p.Gln375His) | |
| X | g.149483004C>G | CA414518185 | IDS | c.1395G>C (p.Gln465His) c.762G>C (p.Gln254His) c.1125G>C (p.Gln375His) | gnomAD v4 |
| X | g.149483004C>T | CA519173893 | IDS | c.1395G>A (p.Gln465=) c.762G>A (p.Gln254=) c.1125G>A (p.Gln375=) | ClinVar dbSNP |
| X | g.149483005T>A | CA356677 | IDS | c.1394A>T (p.Gln465Leu) c.761A>T (p.Gln254Leu) c.1124A>T (p.Gln375Leu) | dbSNP |
| X | g.149483005T>C | CA414518186 | IDS | c.1394A>G (p.Gln465Arg) c.761A>G (p.Gln254Arg) c.1124A>G (p.Gln375Arg) | |
| X | g.149483005T>G | CA414518187 | IDS | c.1394A>C (p.Gln465Pro) c.761A>C (p.Gln254Pro) c.1124A>C (p.Gln375Pro) | |
| X | g.149483005T= | CA2465004011 | IDS | c.1394A= (p.Gln465=) c.761A= (p.Gln254=) c.1124A= (p.Gln375=) | |
| X | g.149483006G>A | CA349672 | IDS | c.1393C>T (p.Gln465Ter) c.760C>T (p.Gln254Ter) c.1123C>T (p.Gln375Ter) | ClinVar dbSNP |
| X | g.149483006G>C | CA414518188 | IDS | c.1393C>G (p.Gln465Glu) c.760C>G (p.Gln254Glu) c.1123C>G (p.Gln375Glu) | |
| X | g.149483006G= | CA2465004012 | IDS | c.1393C= (p.Gln465=) c.760C= (p.Gln254=) c.1123C= (p.Gln375=) | |
| X | g.149483006G>T | CA16608716 | IDS | c.1393C>A (p.Gln465Lys) c.760C>A (p.Gln254Lys) c.1123C>A (p.Gln375Lys) | ClinVar dbSNP |
| X | g.149483007G>A | CA10537448 | IDS | c.1392C>T (p.Ser464=) c.759C>T (p.Ser253=) c.1122C>T (p.Ser374=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483007G>C | CA414518189 | IDS | c.1392C>G (p.Ser464Arg) c.759C>G (p.Ser253Arg) c.1122C>G (p.Ser374Arg) | |
| X | g.149483007G= | CA2465004013 | IDS | c.1392C= (p.Ser464=) c.759C= (p.Ser253=) c.1122C= (p.Ser374=) | |
| X | g.149483007G>T | CA414518190 | IDS | c.1392C>A (p.Ser464Arg) c.759C>A (p.Ser253Arg) c.1122C>A (p.Ser374Arg) | |
| X | g.149483008C>A | CA414518192 | IDS | c.1391G>T (p.Ser464Ile) c.758G>T (p.Ser253Ile) c.1121G>T (p.Ser374Ile) | |
| X | g.149483008C>G | CA414518193 | IDS | c.1391G>C (p.Ser464Thr) c.758G>C (p.Ser253Thr) c.1121G>C (p.Ser374Thr) | |
| X | g.149483008C>T | CA414518191 | IDS | c.1391G>A (p.Ser464Asn) c.758G>A (p.Ser253Asn) c.1121G>A (p.Ser374Asn) | |
| X | g.149483009T>A | CA414518195 | IDS | c.1390A>T (p.Ser464Cys) c.757A>T (p.Ser253Cys) c.1120A>T (p.Ser374Cys) | |
| X | g.149483009T>C | CA414518194 | IDS | c.1390A>G (p.Ser464Gly) c.757A>G (p.Ser253Gly) c.1120A>G (p.Ser374Gly) | |
| X | g.149483009T>G | CA414518196 | IDS | c.1390A>C (p.Ser464Arg) c.757A>C (p.Ser253Arg) c.1120A>C (p.Ser374Arg) | |
| X | g.149483009dup | CA2695236500 | IDS | c.1390dup (p.Ser464LysfsTer15) c.757dup (p.Ser253LysfsTer15) c.1120dup (p.Ser374LysfsTer15) | |
| X | g.149483011_149483012del | CA2579719104 | IDS | c.1389_1390del (p.Tyr463Ter) c.756_757del (p.Tyr252Ter) c.1119_1120del (p.Tyr373Ter) | |
| X | g.149483010A>C | CA414518197 | IDS | c.1389T>G (p.Tyr463Ter) c.756T>G (p.Tyr252Ter) c.1119T>G (p.Tyr373Ter) | |
| X | g.149483010A>G | CA519173897 | IDS | c.1389T>C (p.Tyr463=) c.756T>C (p.Tyr252=) c.1119T>C (p.Tyr373=) | ClinVar |
| X | g.149483010A>T | CA414518198 | IDS | c.1389T>A (p.Tyr463Ter) c.756T>A (p.Tyr252Ter) c.1119T>A (p.Tyr373Ter) | |
| X | g.149483011T>A | CA414518199 | IDS | c.1388A>T (p.Tyr463Phe) c.755A>T (p.Tyr252Phe) c.1118A>T (p.Tyr373Phe) | |
| X | g.149483011T>C | CA414518200 | IDS | c.1388A>G (p.Tyr463Cys) c.755A>G (p.Tyr252Cys) c.1118A>G (p.Tyr373Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483011T>G | CA414518201 | IDS | c.1388A>C (p.Tyr463Ser) c.755A>C (p.Tyr252Ser) c.1118A>C (p.Tyr373Ser) | |
| X | g.149483011T= | CA2465004014 | IDS | c.1388A= (p.Tyr463=) c.755A= (p.Tyr252=) c.1118A= (p.Tyr373=) |