| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |