| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27364579A= | CA1240242836 | EIF2B4,GTF3C2-AS2 | c.1393T= (p.Cys465=) c.*659T= (n.*659T=) c.1390T= (p.Cys464=) c.1453T= (p.Cys485=) n.386T= c.1456T= (p.Cys486=) c.1384T= (p.Cys462=) c.1348T= (p.Cys450=) c.1345T= (p.Cys449=) c.775T= (p.Cys259=) n.1772-2845A= c.1300T= (p.Cys434=) c.808T= (p.Cys270=) | |
| 2 | g.27364579A>C | CA346196768 | EIF2B4,GTF3C2-AS2 | c.1393T>G (p.Cys465Gly) c.*659T>G (n.*659T>G) c.1390T>G (p.Cys464Gly) c.1453T>G (p.Cys485Gly) n.386T>G c.1456T>G (p.Cys486Gly) c.1384T>G (p.Cys462Gly) c.1348T>G (p.Cys450Gly) c.1345T>G (p.Cys449Gly) c.775T>G (p.Cys259Gly) n.1772-2845A>C c.1300T>G (p.Cys434Gly) c.808T>G (p.Cys270Gly) | |
| 2 | g.27364579A>G | CA116652 | EIF2B4,GTF3C2-AS2 | c.1393T>C (p.Cys465Arg) c.*659T>C (n.*659T>C) c.1390T>C (p.Cys464Arg) c.1453T>C (p.Cys485Arg) n.386T>C c.1456T>C (p.Cys486Arg) c.1384T>C (p.Cys462Arg) c.1348T>C (p.Cys450Arg) c.1345T>C (p.Cys449Arg) c.775T>C (p.Cys259Arg) n.1772-2845A>G c.1300T>C (p.Cys434Arg) c.808T>C (p.Cys270Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27364579A>T | CA346196769 | EIF2B4,GTF3C2-AS2 | c.1393T>A (p.Cys465Ser) c.*659T>A (n.*659T>A) c.1390T>A (p.Cys464Ser) c.1453T>A (p.Cys485Ser) n.386T>A c.1456T>A (p.Cys486Ser) c.1384T>A (p.Cys462Ser) c.1348T>A (p.Cys450Ser) c.1345T>A (p.Cys449Ser) c.775T>A (p.Cys259Ser) n.1772-2845A>T c.1300T>A (p.Cys434Ser) c.808T>A (p.Cys270Ser) | |
| 2 | g.27364580T>A | CA346196770 | EIF2B4,GTF3C2-AS2 | c.1392A>T (p.Gln464His) c.*658A>T (n.*658A>T) c.1389A>T (p.Gln463His) c.1452A>T (p.Gln484His) n.385A>T c.1455A>T (p.Gln485His) c.1383A>T (p.Gln461His) c.1347A>T (p.Gln449His) c.1344A>T (p.Gln448His) c.774A>T (p.Gln258His) n.1772-2844T>A c.1299A>T (p.Gln433His) c.807A>T (p.Gln269His) | dbSNP |
| 2 | g.27364580T>C | CA1576580 | EIF2B4,GTF3C2-AS2 | c.1392A>G (p.Gln464=) c.*658A>G (n.*658A>G) c.1389A>G (p.Gln463=) c.1452A>G (p.Gln484=) n.385A>G c.1455A>G (p.Gln485=) c.1383A>G (p.Gln461=) c.1347A>G (p.Gln449=) c.1344A>G (p.Gln448=) c.774A>G (p.Gln258=) n.1772-2844T>C c.1299A>G (p.Gln433=) c.807A>G (p.Gln269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27364580T>G | CA346196771 | EIF2B4,GTF3C2-AS2 | c.1392A>C (p.Gln464His) c.*658A>C (n.*658A>C) c.1389A>C (p.Gln463His) c.1452A>C (p.Gln484His) n.385A>C c.1455A>C (p.Gln485His) c.1383A>C (p.Gln461His) c.1347A>C (p.Gln449His) c.1344A>C (p.Gln448His) c.774A>C (p.Gln258His) n.1772-2844T>G c.1299A>C (p.Gln433His) c.807A>C (p.Gln269His) | |
| 2 | g.27364580T= | CA1240242837 | EIF2B4,GTF3C2-AS2 | c.1392A= (p.Gln464=) c.*658A= (n.*658A=) c.1389A= (p.Gln463=) c.1452A= (p.Gln484=) n.385A= c.1455A= (p.Gln485=) c.1383A= (p.Gln461=) c.1347A= (p.Gln449=) c.1344A= (p.Gln448=) c.774A= (p.Gln258=) n.1772-2844T= c.1299A= (p.Gln433=) c.807A= (p.Gln269=) | |
| 2 | g.27364581T>A | CA346196774 | EIF2B4,GTF3C2-AS2 | c.1391A>T (p.Gln464Leu) c.*657A>T (n.*657A>T) c.1388A>T (p.Gln463Leu) c.1451A>T (p.Gln484Leu) n.384A>T c.1454A>T (p.Gln485Leu) c.1382A>T (p.Gln461Leu) c.1346A>T (p.Gln449Leu) c.1343A>T (p.Gln448Leu) c.773A>T (p.Gln258Leu) n.1772-2843T>A c.1298A>T (p.Gln433Leu) c.806A>T (p.Gln269Leu) | |
| 2 | g.27364581T>C | CA346196772 | EIF2B4,GTF3C2-AS2 | c.1391A>G (p.Gln464Arg) c.*657A>G (n.*657A>G) c.1388A>G (p.Gln463Arg) c.1451A>G (p.Gln484Arg) n.384A>G c.1454A>G (p.Gln485Arg) c.1382A>G (p.Gln461Arg) c.1346A>G (p.Gln449Arg) c.1343A>G (p.Gln448Arg) c.773A>G (p.Gln258Arg) n.1772-2843T>C c.1298A>G (p.Gln433Arg) c.806A>G (p.Gln269Arg) | |
| 2 | g.27364581T>G | CA346196773 | EIF2B4,GTF3C2-AS2 | c.1391A>C (p.Gln464Pro) c.*657A>C (n.*657A>C) c.1388A>C (p.Gln463Pro) c.1451A>C (p.Gln484Pro) n.384A>C c.1454A>C (p.Gln485Pro) c.1382A>C (p.Gln461Pro) c.1346A>C (p.Gln449Pro) c.1343A>C (p.Gln448Pro) c.773A>C (p.Gln258Pro) n.1772-2843T>G c.1298A>C (p.Gln433Pro) c.806A>C (p.Gln269Pro) | |
| 2 | g.27364582G>A | CA346196775 | EIF2B4,GTF3C2-AS2 | c.1390C>T (p.Gln464Ter) c.*656C>T (n.*656C>T) c.1387C>T (p.Gln463Ter) c.1450C>T (p.Gln484Ter) n.383C>T c.1453C>T (p.Gln485Ter) c.1381C>T (p.Gln461Ter) c.1345C>T (p.Gln449Ter) c.1342C>T (p.Gln448Ter) c.772C>T (p.Gln258Ter) n.1772-2842G>A c.1297C>T (p.Gln433Ter) c.805C>T (p.Gln269Ter) | |
| 2 | g.27364582G>C | CA346196776 | EIF2B4,GTF3C2-AS2 | c.1390C>G (p.Gln464Glu) c.*656C>G (n.*656C>G) c.1387C>G (p.Gln463Glu) c.1450C>G (p.Gln484Glu) n.383C>G c.1453C>G (p.Gln485Glu) c.1381C>G (p.Gln461Glu) c.1345C>G (p.Gln449Glu) c.1342C>G (p.Gln448Glu) c.772C>G (p.Gln258Glu) n.1772-2842G>C c.1297C>G (p.Gln433Glu) c.805C>G (p.Gln269Glu) | gnomAD v4 |
| 2 | g.27364582G>T | CA346196777 | EIF2B4,GTF3C2-AS2 | c.1390C>A (p.Gln464Lys) c.*656C>A (n.*656C>A) c.1387C>A (p.Gln463Lys) c.1450C>A (p.Gln484Lys) n.383C>A c.1453C>A (p.Gln485Lys) c.1381C>A (p.Gln461Lys) c.1345C>A (p.Gln449Lys) c.1342C>A (p.Gln448Lys) c.772C>A (p.Gln258Lys) n.1772-2842G>T c.1297C>A (p.Gln433Lys) c.805C>A (p.Gln269Lys) | |
| 2 | g.27364583C>A | CA425409825 | EIF2B4,GTF3C2-AS2 | c.1389G>T (p.Leu463=) c.*655G>T (n.*655G>T) c.1386G>T (p.Leu462=) c.1449G>T (p.Leu483=) n.382G>T c.1452G>T (p.Leu484=) c.1380G>T (p.Leu460=) c.1344G>T (p.Leu448=) c.1341G>T (p.Leu447=) c.771G>T (p.Leu257=) n.1772-2841C>A c.1296G>T (p.Leu432=) c.804G>T (p.Leu268=) | |
| 2 | g.27364583C>G | CA425409824 | EIF2B4,GTF3C2-AS2 | c.1389G>C (p.Leu463=) c.*655G>C (n.*655G>C) c.1386G>C (p.Leu462=) c.1449G>C (p.Leu483=) n.382G>C c.1452G>C (p.Leu484=) c.1380G>C (p.Leu460=) c.1344G>C (p.Leu448=) c.1341G>C (p.Leu447=) c.771G>C (p.Leu257=) n.1772-2841C>G c.1296G>C (p.Leu432=) c.804G>C (p.Leu268=) | |
| 2 | g.27364583C>T | CA425409823 | EIF2B4,GTF3C2-AS2 | c.1389G>A (p.Leu463=) c.*655G>A (n.*655G>A) c.1386G>A (p.Leu462=) c.1449G>A (p.Leu483=) n.382G>A c.1452G>A (p.Leu484=) c.1380G>A (p.Leu460=) c.1344G>A (p.Leu448=) c.1341G>A (p.Leu447=) c.771G>A (p.Leu257=) n.1772-2841C>T c.1296G>A (p.Leu432=) c.804G>A (p.Leu268=) | ClinVar gnomAD v4 |
| 2 | g.27364584A>C | CA346196778 | EIF2B4,GTF3C2-AS2 | c.1388T>G (p.Leu463Arg) c.*654T>G (n.*654T>G) c.1385T>G (p.Leu462Arg) c.1448T>G (p.Leu483Arg) n.381T>G c.1451T>G (p.Leu484Arg) c.1379T>G (p.Leu460Arg) c.1343T>G (p.Leu448Arg) c.1340T>G (p.Leu447Arg) c.770T>G (p.Leu257Arg) n.1772-2840A>C c.1295T>G (p.Leu432Arg) c.803T>G (p.Leu268Arg) | |
| 2 | g.27364584A>G | CA346196779 | EIF2B4,GTF3C2-AS2 | c.1388T>C (p.Leu463Pro) c.*654T>C (n.*654T>C) c.1385T>C (p.Leu462Pro) c.1448T>C (p.Leu483Pro) n.381T>C c.1451T>C (p.Leu484Pro) c.1379T>C (p.Leu460Pro) c.1343T>C (p.Leu448Pro) c.1340T>C (p.Leu447Pro) c.770T>C (p.Leu257Pro) n.1772-2840A>G c.1295T>C (p.Leu432Pro) c.803T>C (p.Leu268Pro) | |
| 2 | g.27364584A>T | CA346196780 | EIF2B4,GTF3C2-AS2 | c.1388T>A (p.Leu463Gln) c.*654T>A (n.*654T>A) c.1385T>A (p.Leu462Gln) c.1448T>A (p.Leu483Gln) n.381T>A c.1451T>A (p.Leu484Gln) c.1379T>A (p.Leu460Gln) c.1343T>A (p.Leu448Gln) c.1340T>A (p.Leu447Gln) c.770T>A (p.Leu257Gln) n.1772-2840A>T c.1295T>A (p.Leu432Gln) c.803T>A (p.Leu268Gln) | |
| 2 | g.27364585G>A | CA425409826 | EIF2B4,GTF3C2-AS2 | c.1387C>T (p.Leu463=) c.*653C>T (n.*653C>T) c.1384C>T (p.Leu462=) c.1447C>T (p.Leu483=) n.380C>T c.1450C>T (p.Leu484=) c.1378C>T (p.Leu460=) c.1342C>T (p.Leu448=) c.1339C>T (p.Leu447=) c.769C>T (p.Leu257=) n.1772-2839G>A c.1294C>T (p.Leu432=) c.802C>T (p.Leu268=) | dbSNP |
| 2 | g.27364585G>C | CA346196781 | EIF2B4,GTF3C2-AS2 | c.1387C>G (p.Leu463Val) c.*653C>G (n.*653C>G) c.1384C>G (p.Leu462Val) c.1447C>G (p.Leu483Val) n.380C>G c.1450C>G (p.Leu484Val) c.1378C>G (p.Leu460Val) c.1342C>G (p.Leu448Val) c.1339C>G (p.Leu447Val) c.769C>G (p.Leu257Val) n.1772-2839G>C c.1294C>G (p.Leu432Val) c.802C>G (p.Leu268Val) | |
| 2 | g.27364585G= | CA1240242838 | EIF2B4,GTF3C2-AS2 | c.1387C= (p.Leu463=) c.*653C= (n.*653C=) c.1384C= (p.Leu462=) c.1447C= (p.Leu483=) n.380C= c.1450C= (p.Leu484=) c.1378C= (p.Leu460=) c.1342C= (p.Leu448=) c.1339C= (p.Leu447=) c.769C= (p.Leu257=) n.1772-2839G= c.1294C= (p.Leu432=) c.802C= (p.Leu268=) | |
| 2 | g.27364585G>T | CA44509333 | EIF2B4,GTF3C2-AS2 | c.1387C>A (p.Leu463Met) c.*653C>A (n.*653C>A) c.1384C>A (p.Leu462Met) c.1447C>A (p.Leu483Met) n.380C>A c.1450C>A (p.Leu484Met) c.1378C>A (p.Leu460Met) c.1342C>A (p.Leu448Met) c.1339C>A (p.Leu447Met) c.769C>A (p.Leu257Met) n.1772-2839G>T c.1294C>A (p.Leu432Met) c.802C>A (p.Leu268Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27364586A>C | CA346196782 | EIF2B4,GTF3C2-AS2 | c.1386T>G (p.Asp462Glu) c.*652T>G (n.*652T>G) c.1383T>G (p.Asp461Glu) c.1446T>G (p.Asp482Glu) n.379T>G c.1449T>G (p.Asp483Glu) c.1377T>G (p.Asp459Glu) c.1341T>G (p.Asp447Glu) c.1338T>G (p.Asp446Glu) c.768T>G (p.Asp256Glu) n.1772-2838A>C c.1293T>G (p.Asp431Glu) c.801T>G (p.Asp267Glu) | |
| 2 | g.27364586A>G | CA425409827 | EIF2B4,GTF3C2-AS2 | c.1386T>C (p.Asp462=) c.*652T>C (n.*652T>C) c.1383T>C (p.Asp461=) c.1446T>C (p.Asp482=) n.379T>C c.1449T>C (p.Asp483=) c.1377T>C (p.Asp459=) c.1341T>C (p.Asp447=) c.1338T>C (p.Asp446=) c.768T>C (p.Asp256=) n.1772-2838A>G c.1293T>C (p.Asp431=) c.801T>C (p.Asp267=) | |
| 2 | g.27364586A>T | CA346196783 | EIF2B4,GTF3C2-AS2 | c.1386T>A (p.Asp462Glu) c.*652T>A (n.*652T>A) c.1383T>A (p.Asp461Glu) c.1446T>A (p.Asp482Glu) n.379T>A c.1449T>A (p.Asp483Glu) c.1377T>A (p.Asp459Glu) c.1341T>A (p.Asp447Glu) c.1338T>A (p.Asp446Glu) c.768T>A (p.Asp256Glu) n.1772-2838A>T c.1293T>A (p.Asp431Glu) c.801T>A (p.Asp267Glu) | |
| 2 | g.27364587T>A | CA346196786 | EIF2B4,GTF3C2-AS2 | c.1385A>T (p.Asp462Val) c.*651A>T (n.*651A>T) c.1382A>T (p.Asp461Val) c.1445A>T (p.Asp482Val) n.378A>T c.1448A>T (p.Asp483Val) c.1376A>T (p.Asp459Val) c.1340A>T (p.Asp447Val) c.1337A>T (p.Asp446Val) c.767A>T (p.Asp256Val) n.1772-2837T>A c.1292A>T (p.Asp431Val) c.800A>T (p.Asp267Val) | |
| 2 | g.27364587T>C | CA346196785 | EIF2B4,GTF3C2-AS2 | c.1385A>G (p.Asp462Gly) c.*651A>G (n.*651A>G) c.1382A>G (p.Asp461Gly) c.1445A>G (p.Asp482Gly) n.378A>G c.1448A>G (p.Asp483Gly) c.1376A>G (p.Asp459Gly) c.1340A>G (p.Asp447Gly) c.1337A>G (p.Asp446Gly) c.767A>G (p.Asp256Gly) n.1772-2837T>C c.1292A>G (p.Asp431Gly) c.800A>G (p.Asp267Gly) | gnomAD v4 |
| 2 | g.27364587T>G | CA346196784 | EIF2B4,GTF3C2-AS2 | c.1385A>C (p.Asp462Ala) c.*651A>C (n.*651A>C) c.1382A>C (p.Asp461Ala) c.1445A>C (p.Asp482Ala) n.378A>C c.1448A>C (p.Asp483Ala) c.1376A>C (p.Asp459Ala) c.1340A>C (p.Asp447Ala) c.1337A>C (p.Asp446Ala) c.767A>C (p.Asp256Ala) n.1772-2837T>G c.1292A>C (p.Asp431Ala) c.800A>C (p.Asp267Ala) | |
| 2 | g.27364588C>A | CA346196787 | EIF2B4,GTF3C2-AS2 | c.1384G>T (p.Asp462Tyr) c.*650G>T (n.*650G>T) c.1381G>T (p.Asp461Tyr) c.1444G>T (p.Asp482Tyr) n.377G>T c.1447G>T (p.Asp483Tyr) c.1375G>T (p.Asp459Tyr) c.1339G>T (p.Asp447Tyr) c.1336G>T (p.Asp446Tyr) c.766G>T (p.Asp256Tyr) n.1772-2836C>A c.1291G>T (p.Asp431Tyr) c.799G>T (p.Asp267Tyr) | gnomAD v4 |
| 2 | g.27364588C>G | CA346196788 | EIF2B4,GTF3C2-AS2 | c.1384G>C (p.Asp462His) c.*650G>C (n.*650G>C) c.1381G>C (p.Asp461His) c.1444G>C (p.Asp482His) n.377G>C c.1447G>C (p.Asp483His) c.1375G>C (p.Asp459His) c.1339G>C (p.Asp447His) c.1336G>C (p.Asp446His) c.766G>C (p.Asp256His) n.1772-2836C>G c.1291G>C (p.Asp431His) c.799G>C (p.Asp267His) | dbSNP |
| 2 | g.27364588C>T | CA346196789 | EIF2B4,GTF3C2-AS2 | c.1384G>A (p.Asp462Asn) c.*650G>A (n.*650G>A) c.1381G>A (p.Asp461Asn) c.1444G>A (p.Asp482Asn) n.377G>A c.1447G>A (p.Asp483Asn) c.1375G>A (p.Asp459Asn) c.1339G>A (p.Asp447Asn) c.1336G>A (p.Asp446Asn) c.766G>A (p.Asp256Asn) n.1772-2836C>T c.1291G>A (p.Asp431Asn) c.799G>A (p.Asp267Asn) | gnomAD v4 |
| 2 | g.27364589A= | CA1240242839 | EIF2B4,GTF3C2-AS2 | c.1383T= (p.Asp461=) c.*649T= (n.*649T=) c.1380T= (p.Asp460=) c.1443T= (p.Asp481=) n.376T= c.1446T= (p.Asp482=) c.1374T= (p.Asp458=) c.1338T= (p.Asp446=) c.1335T= (p.Asp445=) c.765T= (p.Asp255=) n.1772-2835A= c.1290T= (p.Asp430=) c.798T= (p.Asp266=) | |
| 2 | g.27364589A>C | CA346196790 | EIF2B4,GTF3C2-AS2 | c.1383T>G (p.Asp461Glu) c.*649T>G (n.*649T>G) c.1380T>G (p.Asp460Glu) c.1443T>G (p.Asp481Glu) n.376T>G c.1446T>G (p.Asp482Glu) c.1374T>G (p.Asp458Glu) c.1338T>G (p.Asp446Glu) c.1335T>G (p.Asp445Glu) c.765T>G (p.Asp255Glu) n.1772-2835A>C c.1290T>G (p.Asp430Glu) c.798T>G (p.Asp266Glu) | |
| 2 | g.27364589A>G | CA1576581 | EIF2B4,GTF3C2-AS2 | c.1383T>C (p.Asp461=) c.*649T>C (n.*649T>C) c.1380T>C (p.Asp460=) c.1443T>C (p.Asp481=) n.376T>C c.1446T>C (p.Asp482=) c.1374T>C (p.Asp458=) c.1338T>C (p.Asp446=) c.1335T>C (p.Asp445=) c.765T>C (p.Asp255=) n.1772-2835A>G c.1290T>C (p.Asp430=) c.798T>C (p.Asp266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27364589A>T | CA346196791 | EIF2B4,GTF3C2-AS2 | c.1383T>A (p.Asp461Glu) c.*649T>A (n.*649T>A) c.1380T>A (p.Asp460Glu) c.1443T>A (p.Asp481Glu) n.376T>A c.1446T>A (p.Asp482Glu) c.1374T>A (p.Asp458Glu) c.1338T>A (p.Asp446Glu) c.1335T>A (p.Asp445Glu) c.765T>A (p.Asp255Glu) n.1772-2835A>T c.1290T>A (p.Asp430Glu) c.798T>A (p.Asp266Glu) | gnomAD v4 |
| 2 | g.27364590T>A | CA346196792 | EIF2B4,GTF3C2-AS2 | c.1382A>T (p.Asp461Val) c.*648A>T (n.*648A>T) c.1379A>T (p.Asp460Val) c.1442A>T (p.Asp481Val) n.375A>T c.1445A>T (p.Asp482Val) c.1373A>T (p.Asp458Val) c.1337A>T (p.Asp446Val) c.1334A>T (p.Asp445Val) c.764A>T (p.Asp255Val) n.1772-2834T>A c.1289A>T (p.Asp430Val) c.797A>T (p.Asp266Val) | |
| 2 | g.27364590T>C | CA346196793 | EIF2B4,GTF3C2-AS2 | c.1382A>G (p.Asp461Gly) c.*648A>G (n.*648A>G) c.1379A>G (p.Asp460Gly) c.1442A>G (p.Asp481Gly) n.375A>G c.1445A>G (p.Asp482Gly) c.1373A>G (p.Asp458Gly) c.1337A>G (p.Asp446Gly) c.1334A>G (p.Asp445Gly) c.764A>G (p.Asp255Gly) n.1772-2834T>C c.1289A>G (p.Asp430Gly) c.797A>G (p.Asp266Gly) | dbSNP |
| 2 | g.27364590T>G | CA346196794 | EIF2B4,GTF3C2-AS2 | c.1382A>C (p.Asp461Ala) c.*648A>C (n.*648A>C) c.1379A>C (p.Asp460Ala) c.1442A>C (p.Asp481Ala) n.375A>C c.1445A>C (p.Asp482Ala) c.1373A>C (p.Asp458Ala) c.1337A>C (p.Asp446Ala) c.1334A>C (p.Asp445Ala) c.764A>C (p.Asp255Ala) n.1772-2834T>G c.1289A>C (p.Asp430Ala) c.797A>C (p.Asp266Ala) | |
| 2 | g.27364591C>A | CA346196795 | EIF2B4,GTF3C2-AS2 | c.1381G>T (p.Asp461Tyr) c.*647G>T (n.*647G>T) c.1378G>T (p.Asp460Tyr) c.1441G>T (p.Asp481Tyr) n.374G>T c.1444G>T (p.Asp482Tyr) c.1372G>T (p.Asp458Tyr) c.1336G>T (p.Asp446Tyr) c.1333G>T (p.Asp445Tyr) c.763G>T (p.Asp255Tyr) n.1772-2833C>A c.1288G>T (p.Asp430Tyr) c.796G>T (p.Asp266Tyr) | gnomAD v4 |
| 2 | g.27364591C>G | CA346196796 | EIF2B4,GTF3C2-AS2 | c.1381G>C (p.Asp461His) c.*647G>C (n.*647G>C) c.1378G>C (p.Asp460His) c.1441G>C (p.Asp481His) n.374G>C c.1444G>C (p.Asp482His) c.1372G>C (p.Asp458His) c.1336G>C (p.Asp446His) c.1333G>C (p.Asp445His) c.763G>C (p.Asp255His) n.1772-2833C>G c.1288G>C (p.Asp430His) c.796G>C (p.Asp266His) | |
| 2 | g.27364591C>T | CA346196797 | EIF2B4,GTF3C2-AS2 | c.1381G>A (p.Asp461Asn) c.*647G>A (n.*647G>A) c.1378G>A (p.Asp460Asn) c.1441G>A (p.Asp481Asn) n.374G>A c.1444G>A (p.Asp482Asn) c.1372G>A (p.Asp458Asn) c.1336G>A (p.Asp446Asn) c.1333G>A (p.Asp445Asn) c.763G>A (p.Asp255Asn) n.1772-2833C>T c.1288G>A (p.Asp430Asn) c.796G>A (p.Asp266Asn) | |
| 2 | g.27364592A>C | CA425409828 | EIF2B4,GTF3C2-AS2 | c.1380T>G (p.Pro460=) c.*646T>G (n.*646T>G) c.1377T>G (p.Pro459=) c.1440T>G (p.Pro480=) n.373T>G c.1443T>G (p.Pro481=) c.1371T>G (p.Pro457=) c.1335T>G (p.Pro445=) c.1332T>G (p.Pro444=) c.762T>G (p.Pro254=) n.1772-2832A>C c.1287T>G (p.Pro429=) c.795T>G (p.Pro265=) | dbSNP |
| 2 | g.27364592A>G | CA425409829 | EIF2B4,GTF3C2-AS2 | c.1380T>C (p.Pro460=) c.*646T>C (n.*646T>C) c.1377T>C (p.Pro459=) c.1440T>C (p.Pro480=) n.373T>C c.1443T>C (p.Pro481=) c.1371T>C (p.Pro457=) c.1335T>C (p.Pro445=) c.1332T>C (p.Pro444=) c.762T>C (p.Pro254=) n.1772-2832A>G c.1287T>C (p.Pro429=) c.795T>C (p.Pro265=) | |
| 2 | g.27364592A>T | CA425409830 | EIF2B4,GTF3C2-AS2 | c.1380T>A (p.Pro460=) c.*646T>A (n.*646T>A) c.1377T>A (p.Pro459=) c.1440T>A (p.Pro480=) n.373T>A c.1443T>A (p.Pro481=) c.1371T>A (p.Pro457=) c.1335T>A (p.Pro445=) c.1332T>A (p.Pro444=) c.762T>A (p.Pro254=) n.1772-2832A>T c.1287T>A (p.Pro429=) c.795T>A (p.Pro265=) | |
| 2 | g.27364593G>A | CA346196800 | EIF2B4,GTF3C2-AS2 | c.1379C>T (p.Pro460Leu) c.*645C>T (n.*645C>T) c.1376C>T (p.Pro459Leu) c.1439C>T (p.Pro480Leu) n.372C>T c.1442C>T (p.Pro481Leu) c.1370C>T (p.Pro457Leu) c.1334C>T (p.Pro445Leu) c.1331C>T (p.Pro444Leu) c.761C>T (p.Pro254Leu) n.1772-2831G>A c.1286C>T (p.Pro429Leu) c.794C>T (p.Pro265Leu) | |
| 2 | g.27364593G>C | CA346196798 | EIF2B4,GTF3C2-AS2 | c.1379C>G (p.Pro460Arg) c.*645C>G (n.*645C>G) c.1376C>G (p.Pro459Arg) c.1439C>G (p.Pro480Arg) n.372C>G c.1442C>G (p.Pro481Arg) c.1370C>G (p.Pro457Arg) c.1334C>G (p.Pro445Arg) c.1331C>G (p.Pro444Arg) c.761C>G (p.Pro254Arg) n.1772-2831G>C c.1286C>G (p.Pro429Arg) c.794C>G (p.Pro265Arg) | gnomAD v4 |
| 2 | g.27364593G>T | CA346196799 | EIF2B4,GTF3C2-AS2 | c.1379C>A (p.Pro460His) c.*645C>A (n.*645C>A) c.1376C>A (p.Pro459His) c.1439C>A (p.Pro480His) n.372C>A c.1442C>A (p.Pro481His) c.1370C>A (p.Pro457His) c.1334C>A (p.Pro445His) c.1331C>A (p.Pro444His) c.761C>A (p.Pro254His) n.1772-2831G>T c.1286C>A (p.Pro429His) c.794C>A (p.Pro265His) | dbSNP |
| 2 | g.27364594G>A | CA346196801 | EIF2B4,GTF3C2-AS2 | c.1378C>T (p.Pro460Ser) c.*644C>T (n.*644C>T) c.1375C>T (p.Pro459Ser) c.1438C>T (p.Pro480Ser) n.371C>T c.1441C>T (p.Pro481Ser) c.1369C>T (p.Pro457Ser) c.1333C>T (p.Pro445Ser) c.1330C>T (p.Pro444Ser) c.760C>T (p.Pro254Ser) n.1772-2830G>A c.1285C>T (p.Pro429Ser) c.793C>T (p.Pro265Ser) |