| 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.149482996_149483005delinsTGGGGATACA | CA2695236496 | IDS | c.1394_1403delinsTGTATCCCCA (p.Gln465_Arg468delinsLeuTyrProGln) c.761_770delinsTGTATCCCCA (p.Gln254_Arg257delinsLeuTyrProGln) c.1124_1133delinsTGTATCCCCA (p.Gln375_Arg378delinsLeuTyrProGln) | |
| 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.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=) | |
| X | g.149483012A= | CA2465004015 | IDS | c.1387T= (p.Tyr463=) c.754T= (p.Tyr252=) c.1117T= (p.Tyr373=) | |
| X | g.149483012A>C | CA414518202 | IDS | c.1387T>G (p.Tyr463Asp) c.754T>G (p.Tyr252Asp) c.1117T>G (p.Tyr373Asp) | |
| X | g.149483012A>G | CA414518203 | IDS | c.1387T>C (p.Tyr463His) c.754T>C (p.Tyr252His) c.1117T>C (p.Tyr373His) | ClinVar dbSNP gnomAD v4 |
| X | g.149483012A>T | CA414518204 | IDS | c.1387T>A (p.Tyr463Asn) c.754T>A (p.Tyr252Asn) c.1117T>A (p.Tyr373Asn) | |
| X | g.149483013G>A | CA519173899 | IDS | c.1386C>T (p.Ala462=) c.753C>T (p.Ala251=) c.1116C>T (p.Ala372=) | |
| X | g.149483013G>C | CA519173901 | IDS | c.1386C>G (p.Ala462=) c.753C>G (p.Ala251=) c.1116C>G (p.Ala372=) | |
| X | g.149483013G>T | CA519173902 | IDS | c.1386C>A (p.Ala462=) c.753C>A (p.Ala251=) c.1116C>A (p.Ala372=) | |
| X | g.149483014G>A | CA414518205 | IDS | c.1385C>T (p.Ala462Val) c.752C>T (p.Ala251Val) c.1115C>T (p.Ala372Val) | |
| X | g.149483014G>C | CA414518206 | IDS | c.1385C>G (p.Ala462Gly) c.752C>G (p.Ala251Gly) c.1115C>G (p.Ala372Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483014G= | CA2465004016 | IDS | c.1385C= (p.Ala462=) c.752C= (p.Ala251=) c.1115C= (p.Ala372=) | |
| X | g.149483014G>T | CA414518207 | IDS | c.1385C>A (p.Ala462Asp) c.752C>A (p.Ala251Asp) c.1115C>A (p.Ala372Asp) | |
| X | g.149483015C>A | CA414518210 | IDS | c.1384G>T (p.Ala462Ser) c.751G>T (p.Ala251Ser) c.1114G>T (p.Ala372Ser) | |
| X | g.149483015C>G | CA414518209 | IDS | c.1384G>C (p.Ala462Pro) c.751G>C (p.Ala251Pro) c.1114G>C (p.Ala372Pro) | |
| X | g.149483015C>T | CA414518208 | IDS | c.1384G>A (p.Ala462Thr) c.751G>A (p.Ala251Thr) c.1114G>A (p.Ala372Thr) | |
| X | g.149483016A>C | CA414518211 | IDS | c.1383T>G (p.Ile461Met) c.750T>G (p.Ile250Met) c.1113T>G (p.Ile371Met) | |
| X | g.149483016A>G | CA519173907 | IDS | c.1383T>C (p.Ile461=) c.750T>C (p.Ile250=) c.1113T>C (p.Ile371=) | |
| X | g.149483016A>T | CA519173906 | IDS | c.1383T>A (p.Ile461=) c.750T>A (p.Ile250=) c.1113T>A (p.Ile371=) | |
| X | g.149483017A>C | CA414518212 | IDS | c.1382T>G (p.Ile461Ser) c.749T>G (p.Ile250Ser) c.1112T>G (p.Ile371Ser) | |
| X | g.149483017A>G | CA414518213 | IDS | c.1382T>C (p.Ile461Thr) c.749T>C (p.Ile250Thr) c.1112T>C (p.Ile371Thr) | gnomAD v4 |