Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27364805C>ACA346197106EIF2B4,GTF3C2-AS2c.1285G>T (p.Ala429Ser)
c.*551G>T (n.*551G>T)
c.1282G>T (p.Ala428Ser)
c.1345G>T (p.Ala449Ser)
n.278G>T
c.1348G>T (p.Ala450Ser)
c.1276G>T (p.Ala426Ser)
c.1240G>T (p.Ala414Ser)
c.1237G>T (p.Ala413Ser)
c.667G>T (p.Ala223Ser)
n.1772-2619C>A
c.1192G>T (p.Ala398Ser)
c.700G>T (p.Ala234Ser)
2g.27364805C=CA1240242933EIF2B4,GTF3C2-AS2c.1285G= (p.Ala429=)
c.*551G= (n.*551G=)
c.1282G= (p.Ala428=)
c.1345G= (p.Ala449=)
n.278G=
c.1348G= (p.Ala450=)
c.1276G= (p.Ala426=)
c.1240G= (p.Ala414=)
c.1237G= (p.Ala413=)
c.667G= (p.Ala223=)
n.1772-2619C=
c.1192G= (p.Ala398=)
c.700G= (p.Ala234=)
2g.27364805C>GCA346197108EIF2B4,GTF3C2-AS2c.1285G>C (p.Ala429Pro)
c.*551G>C (n.*551G>C)
c.1282G>C (p.Ala428Pro)
c.1345G>C (p.Ala449Pro)
n.278G>C
c.1348G>C (p.Ala450Pro)
c.1276G>C (p.Ala426Pro)
c.1240G>C (p.Ala414Pro)
c.1237G>C (p.Ala413Pro)
c.667G>C (p.Ala223Pro)
n.1772-2619C>G
c.1192G>C (p.Ala398Pro)
c.700G>C (p.Ala234Pro)
2g.27364805C>TCA346197109EIF2B4,GTF3C2-AS2c.1285G>A (p.Ala429Thr)
c.*551G>A (n.*551G>A)
c.1282G>A (p.Ala428Thr)
c.1345G>A (p.Ala449Thr)
n.278G>A
c.1348G>A (p.Ala450Thr)
c.1276G>A (p.Ala426Thr)
c.1240G>A (p.Ala414Thr)
c.1237G>A (p.Ala413Thr)
c.667G>A (p.Ala223Thr)
n.1772-2619C>T
c.1192G>A (p.Ala398Thr)
c.700G>A (p.Ala234Thr)
 dbSNP
2g.27364806T>ACA425410243EIF2B4,GTF3C2-AS2c.1284A>T (p.Arg428=)
c.*550A>T (n.*550A>T)
c.1281A>T (p.Arg427=)
c.1344A>T (p.Arg448=)
n.277A>T
c.1347A>T (p.Arg449=)
c.1275A>T (p.Arg425=)
c.1239A>T (p.Arg413=)
c.1236A>T (p.Arg412=)
c.666A>T (p.Arg222=)
n.1772-2618T>A
c.1191A>T (p.Arg397=)
c.699A>T (p.Arg233=)
2g.27364806T>CCA425410249EIF2B4,GTF3C2-AS2c.1284A>G (p.Arg428=)
c.*550A>G (n.*550A>G)
c.1281A>G (p.Arg427=)
c.1344A>G (p.Arg448=)
n.277A>G
c.1347A>G (p.Arg449=)
c.1275A>G (p.Arg425=)
c.1239A>G (p.Arg413=)
c.1236A>G (p.Arg412=)
c.666A>G (p.Arg222=)
n.1772-2618T>C
c.1191A>G (p.Arg397=)
c.699A>G (p.Arg233=)
2g.27364806T>GCA425410251EIF2B4,GTF3C2-AS2c.1284A>C (p.Arg428=)
c.*550A>C (n.*550A>C)
c.1281A>C (p.Arg427=)
c.1344A>C (p.Arg448=)
n.277A>C
c.1347A>C (p.Arg449=)
c.1275A>C (p.Arg425=)
c.1239A>C (p.Arg413=)
c.1236A>C (p.Arg412=)
c.666A>C (p.Arg222=)
n.1772-2618T>G
c.1191A>C (p.Arg397=)
c.699A>C (p.Arg233=)
2g.27364807C>ACA346197110EIF2B4,GTF3C2-AS2c.1283G>T (p.Arg428Leu)
c.*549G>T (n.*549G>T)
c.1280G>T (p.Arg427Leu)
c.1343G>T (p.Arg448Leu)
n.276G>T
c.1346G>T (p.Arg449Leu)
c.1274G>T (p.Arg425Leu)
c.1238G>T (p.Arg413Leu)
c.1235G>T (p.Arg412Leu)
c.665G>T (p.Arg222Leu)
n.1772-2617C>A
c.1190G>T (p.Arg397Leu)
c.698G>T (p.Arg233Leu)
2g.27364807C=CA1240242934EIF2B4,GTF3C2-AS2c.1283G= (p.Arg428=)
c.*549G= (n.*549G=)
c.1280G= (p.Arg427=)
c.1343G= (p.Arg448=)
n.276G=
c.1346G= (p.Arg449=)
c.1274G= (p.Arg425=)
c.1238G= (p.Arg413=)
c.1235G= (p.Arg412=)
c.665G= (p.Arg222=)
n.1772-2617C=
c.1190G= (p.Arg397=)
c.698G= (p.Arg233=)
2g.27364807C>GCA346197112EIF2B4,GTF3C2-AS2c.1283G>C (p.Arg428Pro)
c.*549G>C (n.*549G>C)
c.1280G>C (p.Arg427Pro)
c.1343G>C (p.Arg448Pro)
n.276G>C
c.1346G>C (p.Arg449Pro)
c.1274G>C (p.Arg425Pro)
c.1238G>C (p.Arg413Pro)
c.1235G>C (p.Arg412Pro)
c.665G>C (p.Arg222Pro)
n.1772-2617C>G
c.1190G>C (p.Arg397Pro)
c.698G>C (p.Arg233Pro)
2g.27364807C>TCA1576609EIF2B4,GTF3C2-AS2c.1283G>A (p.Arg428Gln)
c.*549G>A (n.*549G>A)
c.1280G>A (p.Arg427Gln)
c.1343G>A (p.Arg448Gln)
n.276G>A
c.1346G>A (p.Arg449Gln)
c.1274G>A (p.Arg425Gln)
c.1238G>A (p.Arg413Gln)
c.1235G>A (p.Arg412Gln)
c.665G>A (p.Arg222Gln)
n.1772-2617C>T
c.1190G>A (p.Arg397Gln)
c.698G>A (p.Arg233Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364808G>ACA346197114EIF2B4,GTF3C2-AS2c.1282C>T (p.Arg428Ter)
c.*548C>T (n.*548C>T)
c.1279C>T (p.Arg427Ter)
c.1342C>T (p.Arg448Ter)
n.275C>T
c.1345C>T (p.Arg449Ter)
c.1273C>T (p.Arg425Ter)
c.1237C>T (p.Arg413Ter)
c.1234C>T (p.Arg412Ter)
c.664C>T (p.Arg222Ter)
n.1772-2616G>A
c.1189C>T (p.Arg397Ter)
c.697C>T (p.Arg233Ter)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.27364808G>CCA346197116EIF2B4,GTF3C2-AS2c.1282C>G (p.Arg428Gly)
c.*548C>G (n.*548C>G)
c.1279C>G (p.Arg427Gly)
c.1342C>G (p.Arg448Gly)
n.275C>G
c.1345C>G (p.Arg449Gly)
c.1273C>G (p.Arg425Gly)
c.1237C>G (p.Arg413Gly)
c.1234C>G (p.Arg412Gly)
c.664C>G (p.Arg222Gly)
n.1772-2616G>C
c.1189C>G (p.Arg397Gly)
c.697C>G (p.Arg233Gly)
2g.27364808G=CA1240242935EIF2B4,GTF3C2-AS2c.1282C= (p.Arg428=)
c.*548C= (n.*548C=)
c.1279C= (p.Arg427=)
c.1342C= (p.Arg448=)
n.275C=
c.1345C= (p.Arg449=)
c.1273C= (p.Arg425=)
c.1237C= (p.Arg413=)
c.1234C= (p.Arg412=)
c.664C= (p.Arg222=)
n.1772-2616G=
c.1189C= (p.Arg397=)
c.697C= (p.Arg233=)
2g.27364808G>TCA425410252EIF2B4,GTF3C2-AS2c.1282C>A (p.Arg428=)
c.*548C>A (n.*548C>A)
c.1279C>A (p.Arg427=)
c.1342C>A (p.Arg448=)
n.275C>A
c.1345C>A (p.Arg449=)
c.1273C>A (p.Arg425=)
c.1237C>A (p.Arg413=)
c.1234C>A (p.Arg412=)
c.664C>A (p.Arg222=)
n.1772-2616G>T
c.1189C>A (p.Arg397=)
c.697C>A (p.Arg233=)
2g.27364809A>CCA425410255EIF2B4,GTF3C2-AS2c.1281T>G (p.Ala427=)
c.*547T>G (n.*547T>G)
c.1278T>G (p.Ala426=)
c.1341T>G (p.Ala447=)
n.274T>G
c.1344T>G (p.Ala448=)
c.1272T>G (p.Ala424=)
c.1236T>G (p.Ala412=)
c.1233T>G (p.Ala411=)
c.663T>G (p.Ala221=)
n.1772-2615A>C
c.1188T>G (p.Ala396=)
c.696T>G (p.Ala232=)
2g.27364809A>GCA425410259EIF2B4,GTF3C2-AS2c.1281T>C (p.Ala427=)
c.*547T>C (n.*547T>C)
c.1278T>C (p.Ala426=)
c.1341T>C (p.Ala447=)
n.274T>C
c.1344T>C (p.Ala448=)
c.1272T>C (p.Ala424=)
c.1236T>C (p.Ala412=)
c.1233T>C (p.Ala411=)
c.663T>C (p.Ala221=)
n.1772-2615A>G
c.1188T>C (p.Ala396=)
c.696T>C (p.Ala232=)
2g.27364809A>TCA425410260EIF2B4,GTF3C2-AS2c.1281T>A (p.Ala427=)
c.*547T>A (n.*547T>A)
c.1278T>A (p.Ala426=)
c.1341T>A (p.Ala447=)
n.274T>A
c.1344T>A (p.Ala448=)
c.1272T>A (p.Ala424=)
c.1236T>A (p.Ala412=)
c.1233T>A (p.Ala411=)
c.663T>A (p.Ala221=)
n.1772-2615A>T
c.1188T>A (p.Ala396=)
c.696T>A (p.Ala232=)
2g.27364810G>ACA346197119EIF2B4,GTF3C2-AS2c.1280C>T (p.Ala427Val)
c.*546C>T (n.*546C>T)
c.1277C>T (p.Ala426Val)
c.1340C>T (p.Ala447Val)
n.273C>T
c.1343C>T (p.Ala448Val)
c.1271C>T (p.Ala424Val)
c.1235C>T (p.Ala412Val)
c.1232C>T (p.Ala411Val)
c.662C>T (p.Ala221Val)
n.1772-2614G>A
c.1187C>T (p.Ala396Val)
c.695C>T (p.Ala232Val)
2g.27364810G>CCA346197120EIF2B4,GTF3C2-AS2c.1280C>G (p.Ala427Gly)
c.*546C>G (n.*546C>G)
c.1277C>G (p.Ala426Gly)
c.1340C>G (p.Ala447Gly)
n.273C>G
c.1343C>G (p.Ala448Gly)
c.1271C>G (p.Ala424Gly)
c.1235C>G (p.Ala412Gly)
c.1232C>G (p.Ala411Gly)
c.662C>G (p.Ala221Gly)
n.1772-2614G>C
c.1187C>G (p.Ala396Gly)
c.695C>G (p.Ala232Gly)
2g.27364810G>TCA346197117EIF2B4,GTF3C2-AS2c.1280C>A (p.Ala427Asp)
c.*546C>A (n.*546C>A)
c.1277C>A (p.Ala426Asp)
c.1340C>A (p.Ala447Asp)
n.273C>A
c.1343C>A (p.Ala448Asp)
c.1271C>A (p.Ala424Asp)
c.1235C>A (p.Ala412Asp)
c.1232C>A (p.Ala411Asp)
c.662C>A (p.Ala221Asp)
n.1772-2614G>T
c.1187C>A (p.Ala396Asp)
c.695C>A (p.Ala232Asp)
2g.27364811C>ACA346197125EIF2B4,GTF3C2-AS2c.1279G>T (p.Ala427Ser)
c.*545G>T (n.*545G>T)
c.1276G>T (p.Ala426Ser)
c.1339G>T (p.Ala447Ser)
n.272G>T
c.1342G>T (p.Ala448Ser)
c.1270G>T (p.Ala424Ser)
c.1234G>T (p.Ala412Ser)
c.1231G>T (p.Ala411Ser)
c.661G>T (p.Ala221Ser)
n.1772-2613C>A
c.1186G>T (p.Ala396Ser)
c.694G>T (p.Ala232Ser)
2g.27364811C>GCA346197122EIF2B4,GTF3C2-AS2c.1279G>C (p.Ala427Pro)
c.*545G>C (n.*545G>C)
c.1276G>C (p.Ala426Pro)
c.1339G>C (p.Ala447Pro)
n.272G>C
c.1342G>C (p.Ala448Pro)
c.1270G>C (p.Ala424Pro)
c.1234G>C (p.Ala412Pro)
c.1231G>C (p.Ala411Pro)
c.661G>C (p.Ala221Pro)
n.1772-2613C>G
c.1186G>C (p.Ala396Pro)
c.694G>C (p.Ala232Pro)
2g.27364811C>TCA346197124EIF2B4,GTF3C2-AS2c.1279G>A (p.Ala427Thr)
c.*545G>A (n.*545G>A)
c.1276G>A (p.Ala426Thr)
c.1339G>A (p.Ala447Thr)
n.272G>A
c.1342G>A (p.Ala448Thr)
c.1270G>A (p.Ala424Thr)
c.1234G>A (p.Ala412Thr)
c.1231G>A (p.Ala411Thr)
c.661G>A (p.Ala221Thr)
n.1772-2613C>T
c.1186G>A (p.Ala396Thr)
c.694G>A (p.Ala232Thr)
 gnomAD v4
2g.27364812C>ACA425410263EIF2B4,GTF3C2-AS2c.1278G>T (p.Val426=)
c.*544G>T (n.*544G>T)
c.1275G>T (p.Val425=)
c.1338G>T (p.Val446=)
n.271G>T
c.1341G>T (p.Val447=)
c.1269G>T (p.Val423=)
c.1233G>T (p.Val411=)
c.1230G>T (p.Val410=)
c.660G>T (p.Val220=)
n.1772-2612C>A
c.1185G>T (p.Val395=)
c.693G>T (p.Val231=)
2g.27364812C>GCA425410264EIF2B4,GTF3C2-AS2c.1278G>C (p.Val426=)
c.*544G>C (n.*544G>C)
c.1275G>C (p.Val425=)
c.1338G>C (p.Val446=)
n.271G>C
c.1341G>C (p.Val447=)
c.1269G>C (p.Val423=)
c.1233G>C (p.Val411=)
c.1230G>C (p.Val410=)
c.660G>C (p.Val220=)
n.1772-2612C>G
c.1185G>C (p.Val395=)
c.693G>C (p.Val231=)
2g.27364812C>TCA425410265EIF2B4,GTF3C2-AS2c.1278G>A (p.Val426=)
c.*544G>A (n.*544G>A)
c.1275G>A (p.Val425=)
c.1338G>A (p.Val446=)
n.271G>A
c.1341G>A (p.Val447=)
c.1269G>A (p.Val423=)
c.1233G>A (p.Val411=)
c.1230G>A (p.Val410=)
c.660G>A (p.Val220=)
n.1772-2612C>T
c.1185G>A (p.Val395=)
c.693G>A (p.Val231=)
2g.27364813A=CA1240242936EIF2B4,GTF3C2-AS2c.1277T= (p.Val426=)
c.*543T= (n.*543T=)
c.1274T= (p.Val425=)
c.1337T= (p.Val446=)
n.270T=
c.1340T= (p.Val447=)
c.1268T= (p.Val423=)
c.1232T= (p.Val411=)
c.1229T= (p.Val410=)
c.659T= (p.Val220=)
n.1772-2611A=
c.1184T= (p.Val395=)
c.692T= (p.Val231=)
2g.27364813A>CCA346197126EIF2B4,GTF3C2-AS2c.1277T>G (p.Val426Gly)
c.*543T>G (n.*543T>G)
c.1274T>G (p.Val425Gly)
c.1337T>G (p.Val446Gly)
n.270T>G
c.1340T>G (p.Val447Gly)
c.1268T>G (p.Val423Gly)
c.1232T>G (p.Val411Gly)
c.1229T>G (p.Val410Gly)
c.659T>G (p.Val220Gly)
n.1772-2611A>C
c.1184T>G (p.Val395Gly)
c.692T>G (p.Val231Gly)
 dbSNP
2g.27364813A>GCA1576610EIF2B4,GTF3C2-AS2c.1277T>C (p.Val426Ala)
c.*543T>C (n.*543T>C)
c.1274T>C (p.Val425Ala)
c.1337T>C (p.Val446Ala)
n.270T>C
c.1340T>C (p.Val447Ala)
c.1268T>C (p.Val423Ala)
c.1232T>C (p.Val411Ala)
c.1229T>C (p.Val410Ala)
c.659T>C (p.Val220Ala)
n.1772-2611A>G
c.1184T>C (p.Val395Ala)
c.692T>C (p.Val231Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364813A>TCA346197128EIF2B4,GTF3C2-AS2c.1277T>A (p.Val426Glu)
c.*543T>A (n.*543T>A)
c.1274T>A (p.Val425Glu)
c.1337T>A (p.Val446Glu)
n.270T>A
c.1340T>A (p.Val447Glu)
c.1268T>A (p.Val423Glu)
c.1232T>A (p.Val411Glu)
c.1229T>A (p.Val410Glu)
c.659T>A (p.Val220Glu)
n.1772-2611A>T
c.1184T>A (p.Val395Glu)
c.692T>A (p.Val231Glu)
2g.27364814C>ACA346197130EIF2B4,GTF3C2-AS2c.1276G>T (p.Val426Leu)
c.*542G>T (n.*542G>T)
c.1273G>T (p.Val425Leu)
c.1336G>T (p.Val446Leu)
n.269G>T
c.1339G>T (p.Val447Leu)
c.1267G>T (p.Val423Leu)
c.1231G>T (p.Val411Leu)
c.1228G>T (p.Val410Leu)
c.658G>T (p.Val220Leu)
n.1772-2610C>A
c.1183G>T (p.Val395Leu)
c.691G>T (p.Val231Leu)
2g.27364814C>GCA346197132EIF2B4,GTF3C2-AS2c.1276G>C (p.Val426Leu)
c.*542G>C (n.*542G>C)
c.1273G>C (p.Val425Leu)
c.1336G>C (p.Val446Leu)
n.269G>C
c.1339G>C (p.Val447Leu)
c.1267G>C (p.Val423Leu)
c.1231G>C (p.Val411Leu)
c.1228G>C (p.Val410Leu)
c.658G>C (p.Val220Leu)
n.1772-2610C>G
c.1183G>C (p.Val395Leu)
c.691G>C (p.Val231Leu)
2g.27364814C>TCA346197133EIF2B4,GTF3C2-AS2c.1276G>A (p.Val426Met)
c.*542G>A (n.*542G>A)
c.1273G>A (p.Val425Met)
c.1336G>A (p.Val446Met)
n.269G>A
c.1339G>A (p.Val447Met)
c.1267G>A (p.Val423Met)
c.1231G>A (p.Val411Met)
c.1228G>A (p.Val410Met)
c.658G>A (p.Val220Met)
n.1772-2610C>T
c.1183G>A (p.Val395Met)
c.691G>A (p.Val231Met)
2g.27364815C>ACA425410268EIF2B4,GTF3C2-AS2c.1275G>T (p.Leu425=)
c.*541G>T (n.*541G>T)
c.1272G>T (p.Leu424=)
c.1335G>T (p.Leu445=)
n.268G>T
c.1338G>T (p.Leu446=)
c.1266G>T (p.Leu422=)
c.1230G>T (p.Leu410=)
c.1227G>T (p.Leu409=)
c.657G>T (p.Leu219=)
n.1772-2609C>A
c.1182G>T (p.Leu394=)
c.690G>T (p.Leu230=)
2g.27364815C=CA1240242937EIF2B4,GTF3C2-AS2c.1275G= (p.Leu425=)
c.*541G= (n.*541G=)
c.1272G= (p.Leu424=)
c.1335G= (p.Leu445=)
n.268G=
c.1338G= (p.Leu446=)
c.1266G= (p.Leu422=)
c.1230G= (p.Leu410=)
c.1227G= (p.Leu409=)
c.657G= (p.Leu219=)
n.1772-2609C=
c.1182G= (p.Leu394=)
c.690G= (p.Leu230=)
2g.27364815C>GCA425410269EIF2B4,GTF3C2-AS2c.1275G>C (p.Leu425=)
c.*541G>C (n.*541G>C)
c.1272G>C (p.Leu424=)
c.1335G>C (p.Leu445=)
n.268G>C
c.1338G>C (p.Leu446=)
c.1266G>C (p.Leu422=)
c.1230G>C (p.Leu410=)
c.1227G>C (p.Leu409=)
c.657G>C (p.Leu219=)
n.1772-2609C>G
c.1182G>C (p.Leu394=)
c.690G>C (p.Leu230=)
2g.27364815C>TCA1576611EIF2B4,GTF3C2-AS2c.1275G>A (p.Leu425=)
c.*541G>A (n.*541G>A)
c.1272G>A (p.Leu424=)
c.1335G>A (p.Leu445=)
n.268G>A
c.1338G>A (p.Leu446=)
c.1266G>A (p.Leu422=)
c.1230G>A (p.Leu410=)
c.1227G>A (p.Leu409=)
c.657G>A (p.Leu219=)
n.1772-2609C>T
c.1182G>A (p.Leu394=)
c.690G>A (p.Leu230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364816A>CCA346197136EIF2B4,GTF3C2-AS2c.1274T>G (p.Leu425Arg)
c.*540T>G (n.*540T>G)
c.1271T>G (p.Leu424Arg)
c.1334T>G (p.Leu445Arg)
n.267T>G
c.1337T>G (p.Leu446Arg)
c.1265T>G (p.Leu422Arg)
c.1229T>G (p.Leu410Arg)
c.1226T>G (p.Leu409Arg)
c.656T>G (p.Leu219Arg)
n.1772-2608A>C
c.1181T>G (p.Leu394Arg)
c.689T>G (p.Leu230Arg)
2g.27364816A>GCA346197137EIF2B4,GTF3C2-AS2c.1274T>C (p.Leu425Pro)
c.*540T>C (n.*540T>C)
c.1271T>C (p.Leu424Pro)
c.1334T>C (p.Leu445Pro)
n.267T>C
c.1337T>C (p.Leu446Pro)
c.1265T>C (p.Leu422Pro)
c.1229T>C (p.Leu410Pro)
c.1226T>C (p.Leu409Pro)
c.656T>C (p.Leu219Pro)
n.1772-2608A>G
c.1181T>C (p.Leu394Pro)
c.689T>C (p.Leu230Pro)
2g.27364816A>TCA346197139EIF2B4,GTF3C2-AS2c.1274T>A (p.Leu425Gln)
c.*540T>A (n.*540T>A)
c.1271T>A (p.Leu424Gln)
c.1334T>A (p.Leu445Gln)
n.267T>A
c.1337T>A (p.Leu446Gln)
c.1265T>A (p.Leu422Gln)
c.1229T>A (p.Leu410Gln)
c.1226T>A (p.Leu409Gln)
c.656T>A (p.Leu219Gln)
n.1772-2608A>T
c.1181T>A (p.Leu394Gln)
c.689T>A (p.Leu230Gln)
2g.27364817G>ACA425410270EIF2B4,GTF3C2-AS2c.1273C>T (p.Leu425=)
c.*539C>T (n.*539C>T)
c.1270C>T (p.Leu424=)
c.1333C>T (p.Leu445=)
n.266C>T
c.1336C>T (p.Leu446=)
c.1264C>T (p.Leu422=)
c.1228C>T (p.Leu410=)
c.1225C>T (p.Leu409=)
c.655C>T (p.Leu219=)
n.1772-2607G>A
c.1180C>T (p.Leu394=)
c.688C>T (p.Leu230=)
2g.27364817G>CCA346197142EIF2B4,GTF3C2-AS2c.1273C>G (p.Leu425Val)
c.*539C>G (n.*539C>G)
c.1270C>G (p.Leu424Val)
c.1333C>G (p.Leu445Val)
n.266C>G
c.1336C>G (p.Leu446Val)
c.1264C>G (p.Leu422Val)
c.1228C>G (p.Leu410Val)
c.1225C>G (p.Leu409Val)
c.655C>G (p.Leu219Val)
n.1772-2607G>C
c.1180C>G (p.Leu394Val)
c.688C>G (p.Leu230Val)
2g.27364817G>TCA346197140EIF2B4,GTF3C2-AS2c.1273C>A (p.Leu425Met)
c.*539C>A (n.*539C>A)
c.1270C>A (p.Leu424Met)
c.1333C>A (p.Leu445Met)
n.266C>A
c.1336C>A (p.Leu446Met)
c.1264C>A (p.Leu422Met)
c.1228C>A (p.Leu410Met)
c.1225C>A (p.Leu409Met)
c.655C>A (p.Leu219Met)
n.1772-2607G>T
c.1180C>A (p.Leu394Met)
c.688C>A (p.Leu230Met)
2g.27364818G>ACA425410279EIF2B4,GTF3C2-AS2c.1272C>T (p.Ala424=)
c.*538C>T (n.*538C>T)
c.1269C>T (p.Ala423=)
c.1332C>T (p.Ala444=)
n.265C>T
c.1335C>T (p.Ala445=)
c.1263C>T (p.Ala421=)
c.1227C>T (p.Ala409=)
c.1224C>T (p.Ala408=)
c.654C>T (p.Ala218=)
n.1772-2606G>A
c.1179C>T (p.Ala393=)
c.687C>T (p.Ala229=)
2g.27364818G>CCA425410276EIF2B4,GTF3C2-AS2c.1272C>G (p.Ala424=)
c.*538C>G (n.*538C>G)
c.1269C>G (p.Ala423=)
c.1332C>G (p.Ala444=)
n.265C>G
c.1335C>G (p.Ala445=)
c.1263C>G (p.Ala421=)
c.1227C>G (p.Ala409=)
c.1224C>G (p.Ala408=)
c.654C>G (p.Ala218=)
n.1772-2606G>C
c.1179C>G (p.Ala393=)
c.687C>G (p.Ala229=)
2g.27364818G>TCA425410274EIF2B4,GTF3C2-AS2c.1272C>A (p.Ala424=)
c.*538C>A (n.*538C>A)
c.1269C>A (p.Ala423=)
c.1332C>A (p.Ala444=)
n.265C>A
c.1335C>A (p.Ala445=)
c.1263C>A (p.Ala421=)
c.1227C>A (p.Ala409=)
c.1224C>A (p.Ala408=)
c.654C>A (p.Ala218=)
n.1772-2606G>T
c.1179C>A (p.Ala393=)
c.687C>A (p.Ala229=)
2g.27364819G>ACA346197144EIF2B4,GTF3C2-AS2c.1271C>T (p.Ala424Val)
c.*537C>T (n.*537C>T)
c.1268C>T (p.Ala423Val)
c.1331C>T (p.Ala444Val)
n.264C>T
c.1334C>T (p.Ala445Val)
c.1262C>T (p.Ala421Val)
c.1226C>T (p.Ala409Val)
c.1223C>T (p.Ala408Val)
c.653C>T (p.Ala218Val)
n.1772-2605G>A
c.1178C>T (p.Ala393Val)
c.686C>T (p.Ala229Val)
2g.27364819G>CCA346197145EIF2B4,GTF3C2-AS2c.1271C>G (p.Ala424Gly)
c.*537C>G (n.*537C>G)
c.1268C>G (p.Ala423Gly)
c.1331C>G (p.Ala444Gly)
n.264C>G
c.1334C>G (p.Ala445Gly)
c.1262C>G (p.Ala421Gly)
c.1226C>G (p.Ala409Gly)
c.1223C>G (p.Ala408Gly)
c.653C>G (p.Ala218Gly)
n.1772-2605G>C
c.1178C>G (p.Ala393Gly)
c.686C>G (p.Ala229Gly)
2g.27364819G>TCA346197146EIF2B4,GTF3C2-AS2c.1271C>A (p.Ala424Asp)
c.*537C>A (n.*537C>A)
c.1268C>A (p.Ala423Asp)
c.1331C>A (p.Ala444Asp)
n.264C>A
c.1334C>A (p.Ala445Asp)
c.1262C>A (p.Ala421Asp)
c.1226C>A (p.Ala409Asp)
c.1223C>A (p.Ala408Asp)
c.653C>A (p.Ala218Asp)
n.1772-2605G>T
c.1178C>A (p.Ala393Asp)
c.686C>A (p.Ala229Asp)
2g.27364820C>ACA346197148EIF2B4,GTF3C2-AS2c.1270G>T (p.Ala424Ser)
c.*536G>T (n.*536G>T)
c.1267G>T (p.Ala423Ser)
c.1330G>T (p.Ala444Ser)
n.263G>T
c.1333G>T (p.Ala445Ser)
c.1261G>T (p.Ala421Ser)
c.1225G>T (p.Ala409Ser)
c.1222G>T (p.Ala408Ser)
c.652G>T (p.Ala218Ser)
n.1772-2604C>A
c.1177G>T (p.Ala393Ser)
c.685G>T (p.Ala229Ser)
2g.27364820C>GCA346197150EIF2B4,GTF3C2-AS2c.1270G>C (p.Ala424Pro)
c.*536G>C (n.*536G>C)
c.1267G>C (p.Ala423Pro)
c.1330G>C (p.Ala444Pro)
n.263G>C
c.1333G>C (p.Ala445Pro)
c.1261G>C (p.Ala421Pro)
c.1225G>C (p.Ala409Pro)
c.1222G>C (p.Ala408Pro)
c.652G>C (p.Ala218Pro)
n.1772-2604C>G
c.1177G>C (p.Ala393Pro)
c.685G>C (p.Ala229Pro)
2g.27364820C>TCA346197151EIF2B4,GTF3C2-AS2c.1270G>A (p.Ala424Thr)
c.*536G>A (n.*536G>A)
c.1267G>A (p.Ala423Thr)
c.1330G>A (p.Ala444Thr)
n.263G>A
c.1333G>A (p.Ala445Thr)
c.1261G>A (p.Ala421Thr)
c.1225G>A (p.Ala409Thr)
c.1222G>A (p.Ala408Thr)
c.652G>A (p.Ala218Thr)
n.1772-2604C>T
c.1177G>A (p.Ala393Thr)
c.685G>A (p.Ala229Thr)
2g.27364821T>ACA346197153EIF2B4,GTF3C2-AS2c.1269A>T (p.Leu423Phe)
c.*535A>T (n.*535A>T)
c.1266A>T (p.Leu422Phe)
c.1329A>T (p.Leu443Phe)
n.262A>T
c.1332A>T (p.Leu444Phe)
c.1260A>T (p.Leu420Phe)
c.1224A>T (p.Leu408Phe)
c.1221A>T (p.Leu407Phe)
c.651A>T (p.Leu217Phe)
n.1772-2603T>A
c.1176A>T (p.Leu392Phe)
c.684A>T (p.Leu228Phe)
2g.27364821T>CCA425410285EIF2B4,GTF3C2-AS2c.1269A>G (p.Leu423=)
c.*535A>G (n.*535A>G)
c.1266A>G (p.Leu422=)
c.1329A>G (p.Leu443=)
n.262A>G
c.1332A>G (p.Leu444=)
c.1260A>G (p.Leu420=)
c.1224A>G (p.Leu408=)
c.1221A>G (p.Leu407=)
c.651A>G (p.Leu217=)
n.1772-2603T>C
c.1176A>G (p.Leu392=)
c.684A>G (p.Leu228=)
2g.27364821T>GCA346197154EIF2B4,GTF3C2-AS2c.1269A>C (p.Leu423Phe)
c.*535A>C (n.*535A>C)
c.1266A>C (p.Leu422Phe)
c.1329A>C (p.Leu443Phe)
n.262A>C
c.1332A>C (p.Leu444Phe)
c.1260A>C (p.Leu420Phe)
c.1224A>C (p.Leu408Phe)
c.1221A>C (p.Leu407Phe)
c.651A>C (p.Leu217Phe)
n.1772-2603T>G
c.1176A>C (p.Leu392Phe)
c.684A>C (p.Leu228Phe)
2g.27364822A>CCA346197155EIF2B4,GTF3C2-AS2c.1268T>G (p.Leu423Ter)
c.*534T>G (n.*534T>G)
c.1265T>G (p.Leu422Ter)
c.1328T>G (p.Leu443Ter)
n.261T>G
c.1331T>G (p.Leu444Ter)
c.1259T>G (p.Leu420Ter)
c.1223T>G (p.Leu408Ter)
c.1220T>G (p.Leu407Ter)
c.650T>G (p.Leu217Ter)
n.1772-2602A>C
c.1175T>G (p.Leu392Ter)
c.683T>G (p.Leu228Ter)
2g.27364822A>GCA346197157EIF2B4,GTF3C2-AS2c.1268T>C (p.Leu423Ser)
c.*534T>C (n.*534T>C)
c.1265T>C (p.Leu422Ser)
c.1328T>C (p.Leu443Ser)
n.261T>C
c.1331T>C (p.Leu444Ser)
c.1259T>C (p.Leu420Ser)
c.1223T>C (p.Leu408Ser)
c.1220T>C (p.Leu407Ser)
c.650T>C (p.Leu217Ser)
n.1772-2602A>G
c.1175T>C (p.Leu392Ser)
c.683T>C (p.Leu228Ser)
 gnomAD v4
2g.27364822A>TCA346197159EIF2B4,GTF3C2-AS2c.1268T>A (p.Leu423Ter)
c.*534T>A (n.*534T>A)
c.1265T>A (p.Leu422Ter)
c.1328T>A (p.Leu443Ter)
n.261T>A
c.1331T>A (p.Leu444Ter)
c.1259T>A (p.Leu420Ter)
c.1223T>A (p.Leu408Ter)
c.1220T>A (p.Leu407Ter)
c.650T>A (p.Leu217Ter)
n.1772-2602A>T
c.1175T>A (p.Leu392Ter)
c.683T>A (p.Leu228Ter)
2g.27364823A>CCA346197160EIF2B4,GTF3C2-AS2c.1267T>G (p.Leu423Val)
c.*533T>G (n.*533T>G)
c.1264T>G (p.Leu422Val)
c.1327T>G (p.Leu443Val)
n.260T>G
c.1330T>G (p.Leu444Val)
c.1258T>G (p.Leu420Val)
c.1222T>G (p.Leu408Val)
c.1219T>G (p.Leu407Val)
c.649T>G (p.Leu217Val)
n.1772-2601A>C
c.1174T>G (p.Leu392Val)
c.682T>G (p.Leu228Val)
 COSMIC COSMIC
2g.27364823A>GCA425410291EIF2B4,GTF3C2-AS2c.1267T>C (p.Leu423=)
c.*533T>C (n.*533T>C)
c.1264T>C (p.Leu422=)
c.1327T>C (p.Leu443=)
n.260T>C
c.1330T>C (p.Leu444=)
c.1258T>C (p.Leu420=)
c.1222T>C (p.Leu408=)
c.1219T>C (p.Leu407=)
c.649T>C (p.Leu217=)
n.1772-2601A>G
c.1174T>C (p.Leu392=)
c.682T>C (p.Leu228=)
2g.27364823A>TCA346197162EIF2B4,GTF3C2-AS2c.1267T>A (p.Leu423Ile)
c.*533T>A (n.*533T>A)
c.1264T>A (p.Leu422Ile)
c.1327T>A (p.Leu443Ile)
n.260T>A
c.1330T>A (p.Leu444Ile)
c.1258T>A (p.Leu420Ile)
c.1222T>A (p.Leu408Ile)
c.1219T>A (p.Leu407Ile)
c.649T>A (p.Leu217Ile)
n.1772-2601A>T
c.1174T>A (p.Leu392Ile)
c.682T>A (p.Leu228Ile)
2g.27364824C>ACA346197166EIF2B4,GTF3C2-AS2c.1266G>T (p.Gln422His)
c.*532G>T (n.*532G>T)
c.1263G>T (p.Gln421His)
c.1326G>T (p.Gln442His)
n.259G>T
c.1329G>T (p.Gln443His)
c.1257G>T (p.Gln419His)
c.1221G>T (p.Gln407His)
c.1218G>T (p.Gln406His)
c.648G>T (p.Gln216His)
n.1772-2600C>A
c.1173G>T (p.Gln391His)
c.681G>T (p.Gln227His)
2g.27364824C=CA1240242938EIF2B4,GTF3C2-AS2c.1266G= (p.Gln422=)
c.*532G= (n.*532G=)
c.1263G= (p.Gln421=)
c.1326G= (p.Gln442=)
n.259G=
c.1329G= (p.Gln443=)
c.1257G= (p.Gln419=)
c.1221G= (p.Gln407=)
c.1218G= (p.Gln406=)
c.648G= (p.Gln216=)
n.1772-2600C=
c.1173G= (p.Gln391=)
c.681G= (p.Gln227=)
2g.27364824C>GCA346197164EIF2B4,GTF3C2-AS2c.1266G>C (p.Gln422His)
c.*532G>C (n.*532G>C)
c.1263G>C (p.Gln421His)
c.1326G>C (p.Gln442His)
n.259G>C
c.1329G>C (p.Gln443His)
c.1257G>C (p.Gln419His)
c.1221G>C (p.Gln407His)
c.1218G>C (p.Gln406His)
c.648G>C (p.Gln216His)
n.1772-2600C>G
c.1173G>C (p.Gln391His)
c.681G>C (p.Gln227His)
2g.27364824C>TCA425410293EIF2B4,GTF3C2-AS2c.1266G>A (p.Gln422=)
c.*532G>A (n.*532G>A)
c.1263G>A (p.Gln421=)
c.1326G>A (p.Gln442=)
n.259G>A
c.1329G>A (p.Gln443=)
c.1257G>A (p.Gln419=)
c.1221G>A (p.Gln407=)
c.1218G>A (p.Gln406=)
c.648G>A (p.Gln216=)
n.1772-2600C>T
c.1173G>A (p.Gln391=)
c.681G>A (p.Gln227=)
 dbSNP gnomAD v2 gnomAD v4
2g.27364825T>ACA346197167EIF2B4,GTF3C2-AS2c.1265A>T (p.Gln422Leu)
c.*531A>T (n.*531A>T)
c.1262A>T (p.Gln421Leu)
c.1325A>T (p.Gln442Leu)
n.258A>T
c.1328A>T (p.Gln443Leu)
c.1256A>T (p.Gln419Leu)
c.1220A>T (p.Gln407Leu)
c.1217A>T (p.Gln406Leu)
c.647A>T (p.Gln216Leu)
n.1772-2599T>A
c.1172A>T (p.Gln391Leu)
c.680A>T (p.Gln227Leu)
2g.27364825T>CCA346197168EIF2B4,GTF3C2-AS2c.1265A>G (p.Gln422Arg)
c.*531A>G (n.*531A>G)
c.1262A>G (p.Gln421Arg)
c.1325A>G (p.Gln442Arg)
n.258A>G
c.1328A>G (p.Gln443Arg)
c.1256A>G (p.Gln419Arg)
c.1220A>G (p.Gln407Arg)
c.1217A>G (p.Gln406Arg)
c.647A>G (p.Gln216Arg)
n.1772-2599T>C
c.1172A>G (p.Gln391Arg)
c.680A>G (p.Gln227Arg)
2g.27364825T>GCA346197170EIF2B4,GTF3C2-AS2c.1265A>C (p.Gln422Pro)
c.*531A>C (n.*531A>C)
c.1262A>C (p.Gln421Pro)
c.1325A>C (p.Gln442Pro)
n.258A>C
c.1328A>C (p.Gln443Pro)
c.1256A>C (p.Gln419Pro)
c.1220A>C (p.Gln407Pro)
c.1217A>C (p.Gln406Pro)
c.647A>C (p.Gln216Pro)
n.1772-2599T>G
c.1172A>C (p.Gln391Pro)
c.680A>C (p.Gln227Pro)
2g.27364827_27364828delCA2658336180EIF2B4,GTF3C2-AS2c.1264_1265del (p.Gln422ValfsTer9)
c.*530_*531del (n.*530_*531del)
c.1261_1262del (p.Gln421ValfsTer9)
c.1324_1325del (p.Gln442ValfsTer9)
n.257_258del
c.1327_1328del (p.Gln443ValfsTer9)
c.1255_1256del (p.Gln419ValfsTer9)
c.1219_1220del (p.Gln407ValfsTer9)
c.1216_1217del (p.Gln406ValfsTer9)
c.646_647del (p.Gln216ValfsTer9)
n.1772-2597_1772-2596del
c.1171_1172del (p.Gln391ValfsTer9)
c.679_680del (p.Gln227ValfsTer9)
 gnomAD v4
2g.27364826G>ACA346197172EIF2B4,GTF3C2-AS2c.1264C>T (p.Gln422Ter)
c.*530C>T (n.*530C>T)
c.1261C>T (p.Gln421Ter)
c.1324C>T (p.Gln442Ter)
n.257C>T
c.1327C>T (p.Gln443Ter)
c.1255C>T (p.Gln419Ter)
c.1219C>T (p.Gln407Ter)
c.1216C>T (p.Gln406Ter)
c.646C>T (p.Gln216Ter)
n.1772-2598G>A
c.1171C>T (p.Gln391Ter)
c.679C>T (p.Gln227Ter)
2g.27364826G>CCA346197173EIF2B4,GTF3C2-AS2c.1264C>G (p.Gln422Glu)
c.*530C>G (n.*530C>G)
c.1261C>G (p.Gln421Glu)
c.1324C>G (p.Gln442Glu)
n.257C>G
c.1327C>G (p.Gln443Glu)
c.1255C>G (p.Gln419Glu)
c.1219C>G (p.Gln407Glu)
c.1216C>G (p.Gln406Glu)
c.646C>G (p.Gln216Glu)
n.1772-2598G>C
c.1171C>G (p.Gln391Glu)
c.679C>G (p.Gln227Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.27364826G=CA1240242939EIF2B4,GTF3C2-AS2c.1264C= (p.Gln422=)
c.*530C= (n.*530C=)
c.1261C= (p.Gln421=)
c.1324C= (p.Gln442=)
n.257C=
c.1327C= (p.Gln443=)
c.1255C= (p.Gln419=)
c.1219C= (p.Gln407=)
c.1216C= (p.Gln406=)
c.646C= (p.Gln216=)
n.1772-2598G=
c.1171C= (p.Gln391=)
c.679C= (p.Gln227=)
2g.27364826G>TCA346197174EIF2B4,GTF3C2-AS2c.1264C>A (p.Gln422Lys)
c.*530C>A (n.*530C>A)
c.1261C>A (p.Gln421Lys)
c.1324C>A (p.Gln442Lys)
n.257C>A
c.1327C>A (p.Gln443Lys)
c.1255C>A (p.Gln419Lys)
c.1219C>A (p.Gln407Lys)
c.1216C>A (p.Gln406Lys)
c.646C>A (p.Gln216Lys)
n.1772-2598G>T
c.1171C>A (p.Gln391Lys)
c.679C>A (p.Gln227Lys)
2g.27364827T>ACA425410299EIF2B4,GTF3C2-AS2c.1263A>T (p.Ala421=)
c.*529A>T (n.*529A>T)
c.1260A>T (p.Ala420=)
c.1323A>T (p.Ala441=)
n.256A>T
c.1326A>T (p.Ala442=)
c.1254A>T (p.Ala418=)
c.1218A>T (p.Ala406=)
c.1215A>T (p.Ala405=)
c.645A>T (p.Ala215=)
n.1772-2597T>A
c.1170A>T (p.Ala390=)
c.678A>T (p.Ala226=)
2g.27364827T>CCA425410298EIF2B4,GTF3C2-AS2c.1263A>G (p.Ala421=)
c.*529A>G (n.*529A>G)
c.1260A>G (p.Ala420=)
c.1323A>G (p.Ala441=)
n.256A>G
c.1326A>G (p.Ala442=)
c.1254A>G (p.Ala418=)
c.1218A>G (p.Ala406=)
c.1215A>G (p.Ala405=)
c.645A>G (p.Ala215=)
n.1772-2597T>C
c.1170A>G (p.Ala390=)
c.678A>G (p.Ala226=)
2g.27364827T>GCA425410296EIF2B4,GTF3C2-AS2c.1263A>C (p.Ala421=)
c.*529A>C (n.*529A>C)
c.1260A>C (p.Ala420=)
c.1323A>C (p.Ala441=)
n.256A>C
c.1326A>C (p.Ala442=)
c.1254A>C (p.Ala418=)
c.1218A>C (p.Ala406=)
c.1215A>C (p.Ala405=)
c.645A>C (p.Ala215=)
n.1772-2597T>G
c.1170A>C (p.Ala390=)
c.678A>C (p.Ala226=)
2g.27364828G>ACA346197178EIF2B4,GTF3C2-AS2c.1262C>T (p.Ala421Val)
c.*528C>T (n.*528C>T)
c.1259C>T (p.Ala420Val)
c.1322C>T (p.Ala441Val)
n.255C>T
c.1325C>T (p.Ala442Val)
c.1253C>T (p.Ala418Val)
c.1217C>T (p.Ala406Val)
c.1214C>T (p.Ala405Val)
c.644C>T (p.Ala215Val)
n.1772-2596G>A
c.1169C>T (p.Ala390Val)
c.677C>T (p.Ala226Val)
2g.27364828G>CCA346197177EIF2B4,GTF3C2-AS2c.1262C>G (p.Ala421Gly)
c.*528C>G (n.*528C>G)
c.1259C>G (p.Ala420Gly)
c.1322C>G (p.Ala441Gly)
n.255C>G
c.1325C>G (p.Ala442Gly)
c.1253C>G (p.Ala418Gly)
c.1217C>G (p.Ala406Gly)
c.1214C>G (p.Ala405Gly)
c.644C>G (p.Ala215Gly)
n.1772-2596G>C
c.1169C>G (p.Ala390Gly)
c.677C>G (p.Ala226Gly)
2g.27364828G>TCA346197175EIF2B4,GTF3C2-AS2c.1262C>A (p.Ala421Glu)
c.*528C>A (n.*528C>A)
c.1259C>A (p.Ala420Glu)
c.1322C>A (p.Ala441Glu)
n.255C>A
c.1325C>A (p.Ala442Glu)
c.1253C>A (p.Ala418Glu)
c.1217C>A (p.Ala406Glu)
c.1214C>A (p.Ala405Glu)
c.644C>A (p.Ala215Glu)
n.1772-2596G>T
c.1169C>A (p.Ala390Glu)
c.677C>A (p.Ala226Glu)
2g.27364829C>ACA346197179EIF2B4,GTF3C2-AS2c.1261G>T (p.Ala421Ser)
c.*527G>T (n.*527G>T)
c.1258G>T (p.Ala420Ser)
c.1321G>T (p.Ala441Ser)
n.254G>T
c.1324G>T (p.Ala442Ser)
c.1252G>T (p.Ala418Ser)
c.1216G>T (p.Ala406Ser)
c.1213G>T (p.Ala405Ser)
c.643G>T (p.Ala215Ser)
n.1772-2595C>A
c.1168G>T (p.Ala390Ser)
c.676G>T (p.Ala226Ser)
2g.27364829C>GCA346197180EIF2B4,GTF3C2-AS2c.1261G>C (p.Ala421Pro)
c.*527G>C (n.*527G>C)
c.1258G>C (p.Ala420Pro)
c.1321G>C (p.Ala441Pro)
n.254G>C
c.1324G>C (p.Ala442Pro)
c.1252G>C (p.Ala418Pro)
c.1216G>C (p.Ala406Pro)
c.1213G>C (p.Ala405Pro)
c.643G>C (p.Ala215Pro)
n.1772-2595C>G
c.1168G>C (p.Ala390Pro)
c.676G>C (p.Ala226Pro)
2g.27364829C>TCA346197181EIF2B4,GTF3C2-AS2c.1261G>A (p.Ala421Thr)
c.*527G>A (n.*527G>A)
c.1258G>A (p.Ala420Thr)
c.1321G>A (p.Ala441Thr)
n.254G>A
c.1324G>A (p.Ala442Thr)
c.1252G>A (p.Ala418Thr)
c.1216G>A (p.Ala406Thr)
c.1213G>A (p.Ala405Thr)
c.643G>A (p.Ala215Thr)
n.1772-2595C>T
c.1168G>A (p.Ala390Thr)
c.676G>A (p.Ala226Thr)
2g.27364830T>ACA425410304EIF2B4,GTF3C2-AS2c.1260A>T (p.Thr420=)
c.*526A>T (n.*526A>T)
c.1257A>T (p.Thr419=)
c.1320A>T (p.Thr440=)
n.253A>T
c.1323A>T (p.Thr441=)
c.1251A>T (p.Thr417=)
c.1215A>T (p.Thr405=)
c.1212A>T (p.Thr404=)
c.642A>T (p.Thr214=)
n.1772-2594T>A
c.1167A>T (p.Thr389=)
c.675A>T (p.Thr225=)
 gnomAD v4
2g.27364830T>CCA425410308EIF2B4,GTF3C2-AS2c.1260A>G (p.Thr420=)
c.*526A>G (n.*526A>G)
c.1257A>G (p.Thr419=)
c.1320A>G (p.Thr440=)
n.253A>G
c.1323A>G (p.Thr441=)
c.1251A>G (p.Thr417=)
c.1215A>G (p.Thr405=)
c.1212A>G (p.Thr404=)
c.642A>G (p.Thr214=)
n.1772-2594T>C
c.1167A>G (p.Thr389=)
c.675A>G (p.Thr225=)
2g.27364830T>GCA425410306EIF2B4,GTF3C2-AS2c.1260A>C (p.Thr420=)
c.*526A>C (n.*526A>C)
c.1257A>C (p.Thr419=)
c.1320A>C (p.Thr440=)
n.253A>C
c.1323A>C (p.Thr441=)
c.1251A>C (p.Thr417=)
c.1215A>C (p.Thr405=)
c.1212A>C (p.Thr404=)
c.642A>C (p.Thr214=)
n.1772-2594T>G
c.1167A>C (p.Thr389=)
c.675A>C (p.Thr225=)
 dbSNP gnomAD v2 gnomAD v4
2g.27364830T=CA1240242940EIF2B4,GTF3C2-AS2c.1260A= (p.Thr420=)
c.*526A= (n.*526A=)
c.1257A= (p.Thr419=)
c.1320A= (p.Thr440=)
n.253A=
c.1323A= (p.Thr441=)
c.1251A= (p.Thr417=)
c.1215A= (p.Thr405=)
c.1212A= (p.Thr404=)
c.642A= (p.Thr214=)
n.1772-2594T=
c.1167A= (p.Thr389=)
c.675A= (p.Thr225=)
2g.27364831G>ACA346197182EIF2B4,GTF3C2-AS2c.1259C>T (p.Thr420Ile)
c.*525C>T (n.*525C>T)
c.1256C>T (p.Thr419Ile)
c.1319C>T (p.Thr440Ile)
n.252C>T
c.1322C>T (p.Thr441Ile)
c.1250C>T (p.Thr417Ile)
c.1214C>T (p.Thr405Ile)
c.1211C>T (p.Thr404Ile)
c.641C>T (p.Thr214Ile)
n.1772-2593G>A
c.1166C>T (p.Thr389Ile)
c.674C>T (p.Thr225Ile)
2g.27364831G>CCA346197183EIF2B4,GTF3C2-AS2c.1259C>G (p.Thr420Arg)
c.*525C>G (n.*525C>G)
c.1256C>G (p.Thr419Arg)
c.1319C>G (p.Thr440Arg)
n.252C>G
c.1322C>G (p.Thr441Arg)
c.1250C>G (p.Thr417Arg)
c.1214C>G (p.Thr405Arg)
c.1211C>G (p.Thr404Arg)
c.641C>G (p.Thr214Arg)
n.1772-2593G>C
c.1166C>G (p.Thr389Arg)
c.674C>G (p.Thr225Arg)
2g.27364831G>TCA346197184EIF2B4,GTF3C2-AS2c.1259C>A (p.Thr420Lys)
c.*525C>A (n.*525C>A)
c.1256C>A (p.Thr419Lys)
c.1319C>A (p.Thr440Lys)
n.252C>A
c.1322C>A (p.Thr441Lys)
c.1250C>A (p.Thr417Lys)
c.1214C>A (p.Thr405Lys)
c.1211C>A (p.Thr404Lys)
c.641C>A (p.Thr214Lys)
n.1772-2593G>T
c.1166C>A (p.Thr389Lys)
c.674C>A (p.Thr225Lys)
2g.27364832T>ACA346197185EIF2B4,GTF3C2-AS2c.1258A>T (p.Thr420Ser)
c.*524A>T (n.*524A>T)
c.1255A>T (p.Thr419Ser)
c.1318A>T (p.Thr440Ser)
n.251A>T
c.1321A>T (p.Thr441Ser)
c.1249A>T (p.Thr417Ser)
c.1213A>T (p.Thr405Ser)
c.1210A>T (p.Thr404Ser)
c.640A>T (p.Thr214Ser)
n.1772-2592T>A
c.1165A>T (p.Thr389Ser)
c.673A>T (p.Thr225Ser)
2g.27364832T>CCA346197187EIF2B4,GTF3C2-AS2c.1258A>G (p.Thr420Ala)
c.*524A>G (n.*524A>G)
c.1255A>G (p.Thr419Ala)
c.1318A>G (p.Thr440Ala)
n.251A>G
c.1321A>G (p.Thr441Ala)
c.1249A>G (p.Thr417Ala)
c.1213A>G (p.Thr405Ala)
c.1210A>G (p.Thr404Ala)
c.640A>G (p.Thr214Ala)
n.1772-2592T>C
c.1165A>G (p.Thr389Ala)
c.673A>G (p.Thr225Ala)
2g.27364832T>GCA346197186EIF2B4,GTF3C2-AS2c.1258A>C (p.Thr420Pro)
c.*524A>C (n.*524A>C)
c.1255A>C (p.Thr419Pro)
c.1318A>C (p.Thr440Pro)
n.251A>C
c.1321A>C (p.Thr441Pro)
c.1249A>C (p.Thr417Pro)
c.1213A>C (p.Thr405Pro)
c.1210A>C (p.Thr404Pro)
c.640A>C (p.Thr214Pro)
n.1772-2592T>G
c.1165A>C (p.Thr389Pro)
c.673A>C (p.Thr225Pro)
2g.27364833C>ACA425410310EIF2B4,GTF3C2-AS2c.1257G>T (p.Gly419=)
c.*523G>T (n.*523G>T)
c.1254G>T (p.Gly418=)
c.1317G>T (p.Gly439=)
n.250G>T
c.1320G>T (p.Gly440=)
c.1248G>T (p.Gly416=)
c.1212G>T (p.Gly404=)
c.1209G>T (p.Gly403=)
c.639G>T (p.Gly213=)
n.1772-2591C>A
c.1164G>T (p.Gly388=)
c.672G>T (p.Gly224=)
2g.27364833C=CA1240242941EIF2B4,GTF3C2-AS2c.1257G= (p.Gly419=)
c.*523G= (n.*523G=)
c.1254G= (p.Gly418=)
c.1317G= (p.Gly439=)
n.250G=
c.1320G= (p.Gly440=)
c.1248G= (p.Gly416=)
c.1212G= (p.Gly404=)
c.1209G= (p.Gly403=)
c.639G= (p.Gly213=)
n.1772-2591C=
c.1164G= (p.Gly388=)
c.672G= (p.Gly224=)
2g.27364833C>GCA425410314EIF2B4,GTF3C2-AS2c.1257G>C (p.Gly419=)
c.*523G>C (n.*523G>C)
c.1254G>C (p.Gly418=)
c.1317G>C (p.Gly439=)
n.250G>C
c.1320G>C (p.Gly440=)
c.1248G>C (p.Gly416=)
c.1212G>C (p.Gly404=)
c.1209G>C (p.Gly403=)
c.639G>C (p.Gly213=)
n.1772-2591C>G
c.1164G>C (p.Gly388=)
c.672G>C (p.Gly224=)
2g.27364833C>TCA425410316EIF2B4,GTF3C2-AS2c.1257G>A (p.Gly419=)
c.*523G>A (n.*523G>A)
c.1254G>A (p.Gly418=)
c.1317G>A (p.Gly439=)
n.250G>A
c.1320G>A (p.Gly440=)
c.1248G>A (p.Gly416=)
c.1212G>A (p.Gly404=)
c.1209G>A (p.Gly403=)
c.639G>A (p.Gly213=)
n.1772-2591C>T
c.1164G>A (p.Gly388=)
c.672G>A (p.Gly224=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27364834C>ACA346197189EIF2B4,GTF3C2-AS2c.1256G>T (p.Gly419Val)
c.*522G>T (n.*522G>T)
c.1253G>T (p.Gly418Val)
c.1316G>T (p.Gly439Val)
n.249G>T
c.1319G>T (p.Gly440Val)
c.1247G>T (p.Gly416Val)
c.1211G>T (p.Gly404Val)
c.1208G>T (p.Gly403Val)
c.638G>T (p.Gly213Val)
n.1772-2590C>A
c.1163G>T (p.Gly388Val)
c.671G>T (p.Gly224Val)
2g.27364834C>GCA346197190EIF2B4,GTF3C2-AS2c.1256G>C (p.Gly419Ala)
c.*522G>C (n.*522G>C)
c.1253G>C (p.Gly418Ala)
c.1316G>C (p.Gly439Ala)
n.249G>C
c.1319G>C (p.Gly440Ala)
c.1247G>C (p.Gly416Ala)
c.1211G>C (p.Gly404Ala)
c.1208G>C (p.Gly403Ala)
c.638G>C (p.Gly213Ala)
n.1772-2590C>G
c.1163G>C (p.Gly388Ala)
c.671G>C (p.Gly224Ala)
2g.27364834C>TCA346197191EIF2B4,GTF3C2-AS2c.1256G>A (p.Gly419Glu)
c.*522G>A (n.*522G>A)
c.1253G>A (p.Gly418Glu)
c.1316G>A (p.Gly439Glu)
n.249G>A
c.1319G>A (p.Gly440Glu)
c.1247G>A (p.Gly416Glu)
c.1211G>A (p.Gly404Glu)
c.1208G>A (p.Gly403Glu)
c.638G>A (p.Gly213Glu)
n.1772-2590C>T
c.1163G>A (p.Gly388Glu)
c.671G>A (p.Gly224Glu)
2g.27364835C>ACA346197193EIF2B4,GTF3C2-AS2c.1255G>T (p.Gly419Trp)
c.*521G>T (n.*521G>T)
c.1252G>T (p.Gly418Trp)
c.1315G>T (p.Gly439Trp)
n.248G>T
c.1318G>T (p.Gly440Trp)
c.1246G>T (p.Gly416Trp)
c.1210G>T (p.Gly404Trp)
c.1207G>T (p.Gly403Trp)
c.637G>T (p.Gly213Trp)
n.1772-2589C>A
c.1162G>T (p.Gly388Trp)
c.670G>T (p.Gly224Trp)
2g.27364835C>GCA346197194EIF2B4,GTF3C2-AS2c.1255G>C (p.Gly419Arg)
c.*521G>C (n.*521G>C)
c.1252G>C (p.Gly418Arg)
c.1315G>C (p.Gly439Arg)
n.248G>C
c.1318G>C (p.Gly440Arg)
c.1246G>C (p.Gly416Arg)
c.1210G>C (p.Gly404Arg)
c.1207G>C (p.Gly403Arg)
c.637G>C (p.Gly213Arg)
n.1772-2589C>G
c.1162G>C (p.Gly388Arg)
c.670G>C (p.Gly224Arg)
2g.27364835C>TCA346197196EIF2B4,GTF3C2-AS2c.1255G>A (p.Gly419Arg)
c.*521G>A (n.*521G>A)
c.1252G>A (p.Gly418Arg)
c.1315G>A (p.Gly439Arg)
n.248G>A
c.1318G>A (p.Gly440Arg)
c.1246G>A (p.Gly416Arg)
c.1210G>A (p.Gly404Arg)
c.1207G>A (p.Gly403Arg)
c.637G>A (p.Gly213Arg)
n.1772-2589C>T
c.1162G>A (p.Gly388Arg)
c.670G>A (p.Gly224Arg)
 gnomAD v4
2g.27364836T>ACA425410320EIF2B4,GTF3C2-AS2c.1254A>T (p.Val418=)
c.*520A>T (n.*520A>T)
c.1251A>T (p.Val417=)
c.1314A>T (p.Val438=)
n.247A>T
c.1317A>T (p.Val439=)
c.1245A>T (p.Val415=)
c.1209A>T (p.Val403=)
c.1206A>T (p.Val402=)
c.636A>T (p.Val212=)
n.1772-2588T>A
c.1161A>T (p.Val387=)
c.669A>T (p.Val223=)
2g.27364836T>CCA425410322EIF2B4,GTF3C2-AS2c.1254A>G (p.Val418=)
c.*520A>G (n.*520A>G)
c.1251A>G (p.Val417=)
c.1314A>G (p.Val438=)
n.247A>G
c.1317A>G (p.Val439=)
c.1245A>G (p.Val415=)
c.1209A>G (p.Val403=)
c.1206A>G (p.Val402=)
c.636A>G (p.Val212=)
n.1772-2588T>C
c.1161A>G (p.Val387=)
c.669A>G (p.Val223=)
2g.27364836T>GCA425410323EIF2B4,GTF3C2-AS2c.1254A>C (p.Val418=)
c.*520A>C (n.*520A>C)
c.1251A>C (p.Val417=)
c.1314A>C (p.Val438=)
n.247A>C
c.1317A>C (p.Val439=)
c.1245A>C (p.Val415=)
c.1209A>C (p.Val403=)
c.1206A>C (p.Val402=)
c.636A>C (p.Val212=)
n.1772-2588T>G
c.1161A>C (p.Val387=)
c.669A>C (p.Val223=)
2g.27364837A=CA1240242942EIF2B4,GTF3C2-AS2c.1253T= (p.Val418=)
c.*519T= (n.*519T=)
c.1250T= (p.Val417=)
c.1313T= (p.Val438=)
n.246T=
c.1316T= (p.Val439=)
c.1244T= (p.Val415=)
c.1208T= (p.Val403=)
c.1205T= (p.Val402=)
c.635T= (p.Val212=)
n.1772-2587A=
c.1160T= (p.Val387=)
c.668T= (p.Val223=)
2g.27364837A>CCA346197198EIF2B4,GTF3C2-AS2c.1253T>G (p.Val418Gly)
c.*519T>G (n.*519T>G)
c.1250T>G (p.Val417Gly)
c.1313T>G (p.Val438Gly)
n.246T>G
c.1316T>G (p.Val439Gly)
c.1244T>G (p.Val415Gly)
c.1208T>G (p.Val403Gly)
c.1205T>G (p.Val402Gly)
c.635T>G (p.Val212Gly)
n.1772-2587A>C
c.1160T>G (p.Val387Gly)
c.668T>G (p.Val223Gly)
2g.27364837A>GCA346197199EIF2B4,GTF3C2-AS2c.1253T>C (p.Val418Ala)
c.*519T>C (n.*519T>C)
c.1250T>C (p.Val417Ala)
c.1313T>C (p.Val438Ala)
n.246T>C
c.1316T>C (p.Val439Ala)
c.1244T>C (p.Val415Ala)
c.1208T>C (p.Val403Ala)
c.1205T>C (p.Val402Ala)
c.635T>C (p.Val212Ala)
n.1772-2587A>G
c.1160T>C (p.Val387Ala)
c.668T>C (p.Val223Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.27364837A>TCA346197201EIF2B4,GTF3C2-AS2c.1253T>A (p.Val418Glu)
c.*519T>A (n.*519T>A)
c.1250T>A (p.Val417Glu)
c.1313T>A (p.Val438Glu)
n.246T>A
c.1316T>A (p.Val439Glu)
c.1244T>A (p.Val415Glu)
c.1208T>A (p.Val403Glu)
c.1205T>A (p.Val402Glu)
c.635T>A (p.Val212Glu)
n.1772-2587A>T
c.1160T>A (p.Val387Glu)
c.668T>A (p.Val223Glu)
2g.27364838C>ACA346197202EIF2B4,GTF3C2-AS2c.1252G>T (p.Val418Leu)
c.*518G>T (n.*518G>T)
c.1249G>T (p.Val417Leu)
c.1312G>T (p.Val438Leu)
n.245G>T
c.1315G>T (p.Val439Leu)
c.1243G>T (p.Val415Leu)
c.1207G>T (p.Val403Leu)
c.1204G>T (p.Val402Leu)
c.634G>T (p.Val212Leu)
n.1772-2586C>A
c.1159G>T (p.Val387Leu)
c.667G>T (p.Val223Leu)
2g.27364838C>GCA346197204EIF2B4,GTF3C2-AS2c.1252G>C (p.Val418Leu)
c.*518G>C (n.*518G>C)
c.1249G>C (p.Val417Leu)
c.1312G>C (p.Val438Leu)
n.245G>C
c.1315G>C (p.Val439Leu)
c.1243G>C (p.Val415Leu)
c.1207G>C (p.Val403Leu)
c.1204G>C (p.Val402Leu)
c.634G>C (p.Val212Leu)
n.1772-2586C>G
c.1159G>C (p.Val387Leu)
c.667G>C (p.Val223Leu)
2g.27364838C>TCA346197206EIF2B4,GTF3C2-AS2c.1252G>A (p.Val418Ile)
c.*518G>A (n.*518G>A)
c.1249G>A (p.Val417Ile)
c.1312G>A (p.Val438Ile)
n.245G>A
c.1315G>A (p.Val439Ile)
c.1243G>A (p.Val415Ile)
c.1207G>A (p.Val403Ile)
c.1204G>A (p.Val402Ile)
c.634G>A (p.Val212Ile)
n.1772-2586C>T
c.1159G>A (p.Val387Ile)
c.667G>A (p.Val223Ile)
2g.27364839C>ACA425410325EIF2B4,GTF3C2-AS2c.1251G>T (p.Arg417=)
c.*517G>T (n.*517G>T)
c.1248G>T (p.Arg416=)
c.1311G>T (p.Arg437=)
n.244G>T
c.1314G>T (p.Arg438=)
c.1242G>T (p.Arg414=)
c.1206G>T (p.Arg402=)
c.1203G>T (p.Arg401=)
c.633G>T (p.Arg211=)
n.1772-2585C>A
c.1158G>T (p.Arg386=)
c.666G>T (p.Arg222=)
2g.27364839C=CA1240242943EIF2B4,GTF3C2-AS2c.1251G= (p.Arg417=)
c.*517G= (n.*517G=)
c.1248G= (p.Arg416=)
c.1311G= (p.Arg437=)
n.244G=
c.1314G= (p.Arg438=)
c.1242G= (p.Arg414=)
c.1206G= (p.Arg402=)
c.1203G= (p.Arg401=)
c.633G= (p.Arg211=)
n.1772-2585C=
c.1158G= (p.Arg386=)
c.666G= (p.Arg222=)
2g.27364839C>GCA425410326EIF2B4,GTF3C2-AS2c.1251G>C (p.Arg417=)
c.*517G>C (n.*517G>C)
c.1248G>C (p.Arg416=)
c.1311G>C (p.Arg437=)
n.244G>C
c.1314G>C (p.Arg438=)
c.1242G>C (p.Arg414=)
c.1206G>C (p.Arg402=)
c.1203G>C (p.Arg401=)
c.633G>C (p.Arg211=)
n.1772-2585C>G
c.1158G>C (p.Arg386=)
c.666G>C (p.Arg222=)
2g.27364839C>TCA425410328EIF2B4,GTF3C2-AS2c.1251G>A (p.Arg417=)
c.*517G>A (n.*517G>A)
c.1248G>A (p.Arg416=)
c.1311G>A (p.Arg437=)
n.244G>A
c.1314G>A (p.Arg438=)
c.1242G>A (p.Arg414=)
c.1206G>A (p.Arg402=)
c.1203G>A (p.Arg401=)
c.633G>A (p.Arg211=)
n.1772-2585C>T
c.1158G>A (p.Arg386=)
c.666G>A (p.Arg222=)
 dbSNP gnomAD v3 gnomAD v4
2g.27364840C>ACA346197208EIF2B4,GTF3C2-AS2c.1250G>T (p.Arg417Leu)
c.*516G>T (n.*516G>T)
c.1247G>T (p.Arg416Leu)
c.1310G>T (p.Arg437Leu)
n.243G>T
c.1313G>T (p.Arg438Leu)
c.1241G>T (p.Arg414Leu)
c.1205G>T (p.Arg402Leu)
c.1202G>T (p.Arg401Leu)
c.632G>T (p.Arg211Leu)
n.1772-2584C>A
c.1157G>T (p.Arg386Leu)
c.665G>T (p.Arg222Leu)
2g.27364840C>GCA346197210EIF2B4,GTF3C2-AS2c.1250G>C (p.Arg417Pro)
c.*516G>C (n.*516G>C)
c.1247G>C (p.Arg416Pro)
c.1310G>C (p.Arg437Pro)
n.243G>C
c.1313G>C (p.Arg438Pro)
c.1241G>C (p.Arg414Pro)
c.1205G>C (p.Arg402Pro)
c.1202G>C (p.Arg401Pro)
c.632G>C (p.Arg211Pro)
n.1772-2584C>G
c.1157G>C (p.Arg386Pro)
c.665G>C (p.Arg222Pro)
2g.27364840C>TCA346197207EIF2B4,GTF3C2-AS2c.1250G>A (p.Arg417Gln)
c.*516G>A (n.*516G>A)
c.1247G>A (p.Arg416Gln)
c.1310G>A (p.Arg437Gln)
n.243G>A
c.1313G>A (p.Arg438Gln)
c.1241G>A (p.Arg414Gln)
c.1205G>A (p.Arg402Gln)
c.1202G>A (p.Arg401Gln)
c.632G>A (p.Arg211Gln)
n.1772-2584C>T
c.1157G>A (p.Arg386Gln)
c.665G>A (p.Arg222Gln)
 gnomAD v4
2g.27364841G>ACA1576612EIF2B4,GTF3C2-AS2c.1249C>T (p.Arg417Trp)
c.*515C>T (n.*515C>T)
c.1246C>T (p.Arg416Trp)
c.1309C>T (p.Arg437Trp)
n.242C>T
c.1312C>T (p.Arg438Trp)
c.1240C>T (p.Arg414Trp)
c.1204C>T (p.Arg402Trp)
c.1201C>T (p.Arg401Trp)
c.631C>T (p.Arg211Trp)
n.1772-2583G>A
c.1156C>T (p.Arg386Trp)
c.664C>T (p.Arg222Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364841G>CCA346197213EIF2B4,GTF3C2-AS2c.1249C>G (p.Arg417Gly)
c.*515C>G (n.*515C>G)
c.1246C>G (p.Arg416Gly)
c.1309C>G (p.Arg437Gly)
n.242C>G
c.1312C>G (p.Arg438Gly)
c.1240C>G (p.Arg414Gly)
c.1204C>G (p.Arg402Gly)
c.1201C>G (p.Arg401Gly)
c.631C>G (p.Arg211Gly)
n.1772-2583G>C
c.1156C>G (p.Arg386Gly)
c.664C>G (p.Arg222Gly)
2g.27364841G=CA1240242944EIF2B4,GTF3C2-AS2c.1249C= (p.Arg417=)
c.*515C= (n.*515C=)
c.1246C= (p.Arg416=)
c.1309C= (p.Arg437=)
n.242C=
c.1312C= (p.Arg438=)
c.1240C= (p.Arg414=)
c.1204C= (p.Arg402=)
c.1201C= (p.Arg401=)
c.631C= (p.Arg211=)
n.1772-2583G=
c.1156C= (p.Arg386=)
c.664C= (p.Arg222=)
2g.27364841G>TCA1576613EIF2B4,GTF3C2-AS2c.1249C>A (p.Arg417=)
c.*515C>A (n.*515C>A)
c.1246C>A (p.Arg416=)
c.1309C>A (p.Arg437=)
n.242C>A
c.1312C>A (p.Arg438=)
c.1240C>A (p.Arg414=)
c.1204C>A (p.Arg402=)
c.1201C>A (p.Arg401=)
c.631C>A (p.Arg211=)
n.1772-2583G>T
c.1156C>A (p.Arg386=)
c.664C>A (p.Arg222=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364842T>ACA425410339EIF2B4,GTF3C2-AS2c.1248A>T (p.Ser416=)
c.*514A>T (n.*514A>T)
c.1245A>T (p.Ser415=)
c.1308A>T (p.Ser436=)
n.241A>T
c.1311A>T (p.Ser437=)
c.1239A>T (p.Ser413=)
c.1203A>T (p.Ser401=)
c.1200A>T (p.Ser400=)
c.630A>T (p.Ser210=)
n.1772-2582T>A
c.1155A>T (p.Ser385=)
c.663A>T (p.Ser221=)
2g.27364842T>CCA425410340EIF2B4,GTF3C2-AS2c.1248A>G (p.Ser416=)
c.*514A>G (n.*514A>G)
c.1245A>G (p.Ser415=)
c.1308A>G (p.Ser436=)
n.241A>G
c.1311A>G (p.Ser437=)
c.1239A>G (p.Ser413=)
c.1203A>G (p.Ser401=)
c.1200A>G (p.Ser400=)
c.630A>G (p.Ser210=)
n.1772-2582T>C
c.1155A>G (p.Ser385=)
c.663A>G (p.Ser221=)
 ClinVar
2g.27364842T>GCA425410341EIF2B4,GTF3C2-AS2c.1248A>C (p.Ser416=)
c.*514A>C (n.*514A>C)
c.1245A>C (p.Ser415=)
c.1308A>C (p.Ser436=)
n.241A>C
c.1311A>C (p.Ser437=)
c.1239A>C (p.Ser413=)
c.1203A>C (p.Ser401=)
c.1200A>C (p.Ser400=)
c.630A>C (p.Ser210=)
n.1772-2582T>G
c.1155A>C (p.Ser385=)
c.663A>C (p.Ser221=)
2g.27364843G>ACA346197215EIF2B4,GTF3C2-AS2c.1247C>T (p.Ser416Leu)
c.*513C>T (n.*513C>T)
c.1244C>T (p.Ser415Leu)
c.1307C>T (p.Ser436Leu)
n.240C>T
c.1310C>T (p.Ser437Leu)
c.1238C>T (p.Ser413Leu)
c.1202C>T (p.Ser401Leu)
c.1199C>T (p.Ser400Leu)
c.629C>T (p.Ser210Leu)
n.1772-2581G>A
c.1154C>T (p.Ser385Leu)
c.662C>T (p.Ser221Leu)
2g.27364843G>CCA346197217EIF2B4,GTF3C2-AS2c.1247C>G (p.Ser416Ter)
c.*513C>G (n.*513C>G)
c.1244C>G (p.Ser415Ter)
c.1307C>G (p.Ser436Ter)
n.240C>G
c.1310C>G (p.Ser437Ter)
c.1238C>G (p.Ser413Ter)
c.1202C>G (p.Ser401Ter)
c.1199C>G (p.Ser400Ter)
c.629C>G (p.Ser210Ter)
n.1772-2581G>C
c.1154C>G (p.Ser385Ter)
c.662C>G (p.Ser221Ter)
2g.27364843G>TCA346197218EIF2B4,GTF3C2-AS2c.1247C>A (p.Ser416Ter)
c.*513C>A (n.*513C>A)
c.1244C>A (p.Ser415Ter)
c.1307C>A (p.Ser436Ter)
n.240C>A
c.1310C>A (p.Ser437Ter)
c.1238C>A (p.Ser413Ter)
c.1202C>A (p.Ser401Ter)
c.1199C>A (p.Ser400Ter)
c.629C>A (p.Ser210Ter)
n.1772-2581G>T
c.1154C>A (p.Ser385Ter)
c.662C>A (p.Ser221Ter)
2g.27364844A>CCA346197223EIF2B4,GTF3C2-AS2c.1246T>G (p.Ser416Ala)
c.*512T>G (n.*512T>G)
c.1243T>G (p.Ser415Ala)
c.1306T>G (p.Ser436Ala)
n.239T>G
c.1309T>G (p.Ser437Ala)
c.1237T>G (p.Ser413Ala)
c.1201T>G (p.Ser401Ala)
c.1198T>G (p.Ser400Ala)
c.628T>G (p.Ser210Ala)
n.1772-2580A>C
c.1153T>G (p.Ser385Ala)
c.661T>G (p.Ser221Ala)
2g.27364844A>GCA346197220EIF2B4,GTF3C2-AS2c.1246T>C (p.Ser416Pro)
c.*512T>C (n.*512T>C)
c.1243T>C (p.Ser415Pro)
c.1306T>C (p.Ser436Pro)
n.239T>C
c.1309T>C (p.Ser437Pro)
c.1237T>C (p.Ser413Pro)
c.1201T>C (p.Ser401Pro)
c.1198T>C (p.Ser400Pro)
c.628T>C (p.Ser210Pro)
n.1772-2580A>G
c.1153T>C (p.Ser385Pro)
c.661T>C (p.Ser221Pro)
2g.27364844A>TCA346197221EIF2B4,GTF3C2-AS2c.1246T>A (p.Ser416Thr)
c.*512T>A (n.*512T>A)
c.1243T>A (p.Ser415Thr)
c.1306T>A (p.Ser436Thr)
n.239T>A
c.1309T>A (p.Ser437Thr)
c.1237T>A (p.Ser413Thr)
c.1201T>A (p.Ser401Thr)
c.1198T>A (p.Ser400Thr)
c.628T>A (p.Ser210Thr)
n.1772-2580A>T
c.1153T>A (p.Ser385Thr)
c.661T>A (p.Ser221Thr)
2g.27364845C>ACA346197225EIF2B4,GTF3C2-AS2c.1245G>T (p.Met415Ile)
c.*511G>T (n.*511G>T)
c.1242G>T (p.Met414Ile)
c.1305G>T (p.Met435Ile)
n.238G>T
c.1308G>T (p.Met436Ile)
c.1236G>T (p.Met412Ile)
c.1200G>T (p.Met400Ile)
c.1197G>T (p.Met399Ile)
c.627G>T (p.Met209Ile)
n.1772-2579C>A
c.1152G>T (p.Met384Ile)
c.660G>T (p.Met220Ile)
2g.27364845C>GCA346197226EIF2B4,GTF3C2-AS2c.1245G>C (p.Met415Ile)
c.*511G>C (n.*511G>C)
c.1242G>C (p.Met414Ile)
c.1305G>C (p.Met435Ile)
n.238G>C
c.1308G>C (p.Met436Ile)
c.1236G>C (p.Met412Ile)
c.1200G>C (p.Met400Ile)
c.1197G>C (p.Met399Ile)
c.627G>C (p.Met209Ile)
n.1772-2579C>G
c.1152G>C (p.Met384Ile)
c.660G>C (p.Met220Ile)
2g.27364845C>TCA346197227EIF2B4,GTF3C2-AS2c.1245G>A (p.Met415Ile)
c.*511G>A (n.*511G>A)
c.1242G>A (p.Met414Ile)
c.1305G>A (p.Met435Ile)
n.238G>A
c.1308G>A (p.Met436Ile)
c.1236G>A (p.Met412Ile)
c.1200G>A (p.Met400Ile)
c.1197G>A (p.Met399Ile)
c.627G>A (p.Met209Ile)
n.1772-2579C>T
c.1152G>A (p.Met384Ile)
c.660G>A (p.Met220Ile)
2g.27364846A>CCA346197229EIF2B4,GTF3C2-AS2c.1244T>G (p.Met415Arg)
c.*510T>G (n.*510T>G)
c.1241T>G (p.Met414Arg)
c.1304T>G (p.Met435Arg)
n.237T>G
c.1307T>G (p.Met436Arg)
c.1235T>G (p.Met412Arg)
c.1199T>G (p.Met400Arg)
c.1196T>G (p.Met399Arg)
c.626T>G (p.Met209Arg)
n.1772-2578A>C
c.1151T>G (p.Met384Arg)
c.659T>G (p.Met220Arg)
2g.27364846A>GCA346197230EIF2B4,GTF3C2-AS2c.1244T>C (p.Met415Thr)
c.*510T>C (n.*510T>C)
c.1241T>C (p.Met414Thr)
c.1304T>C (p.Met435Thr)
n.237T>C
c.1307T>C (p.Met436Thr)
c.1235T>C (p.Met412Thr)
c.1199T>C (p.Met400Thr)
c.1196T>C (p.Met399Thr)
c.626T>C (p.Met209Thr)
n.1772-2578A>G
c.1151T>C (p.Met384Thr)
c.659T>C (p.Met220Thr)
2g.27364846A>TCA346197231EIF2B4,GTF3C2-AS2c.1244T>A (p.Met415Lys)
c.*510T>A (n.*510T>A)
c.1241T>A (p.Met414Lys)
c.1304T>A (p.Met435Lys)
n.237T>A
c.1307T>A (p.Met436Lys)
c.1235T>A (p.Met412Lys)
c.1199T>A (p.Met400Lys)
c.1196T>A (p.Met399Lys)
c.626T>A (p.Met209Lys)
n.1772-2578A>T
c.1151T>A (p.Met384Lys)
c.659T>A (p.Met220Lys)
2g.27364847T>ACA346197234EIF2B4,GTF3C2-AS2c.1243A>T (p.Met415Leu)
c.*509A>T (n.*509A>T)
c.1240A>T (p.Met414Leu)
c.1303A>T (p.Met435Leu)
n.236A>T
c.1306A>T (p.Met436Leu)
c.1234A>T (p.Met412Leu)
c.1198A>T (p.Met400Leu)
c.1195A>T (p.Met399Leu)
c.625A>T (p.Met209Leu)
n.1772-2577T>A
c.1150A>T (p.Met384Leu)
c.658A>T (p.Met220Leu)
2g.27364847T>CCA346197236EIF2B4,GTF3C2-AS2c.1243A>G (p.Met415Val)
c.*509A>G (n.*509A>G)
c.1240A>G (p.Met414Val)
c.1303A>G (p.Met435Val)
n.236A>G
c.1306A>G (p.Met436Val)
c.1234A>G (p.Met412Val)
c.1198A>G (p.Met400Val)
c.1195A>G (p.Met399Val)
c.625A>G (p.Met209Val)
n.1772-2577T>C
c.1150A>G (p.Met384Val)
c.658A>G (p.Met220Val)
2g.27364847T>GCA346197235EIF2B4,GTF3C2-AS2c.1243A>C (p.Met415Leu)
c.*509A>C (n.*509A>C)
c.1240A>C (p.Met414Leu)
c.1303A>C (p.Met435Leu)
n.236A>C
c.1306A>C (p.Met436Leu)
c.1234A>C (p.Met412Leu)
c.1198A>C (p.Met400Leu)
c.1195A>C (p.Met399Leu)
c.625A>C (p.Met209Leu)
n.1772-2577T>G
c.1150A>C (p.Met384Leu)
c.658A>C (p.Met220Leu)
 gnomAD v4
2g.27364848C>ACA425410348EIF2B4,GTF3C2-AS2c.1242G>T (p.Val414=)
c.*508G>T (n.*508G>T)
c.1239G>T (p.Val413=)
c.1302G>T (p.Val434=)
n.235G>T
c.1305G>T (p.Val435=)
c.1233G>T (p.Val411=)
c.1197G>T (p.Val399=)
c.1194G>T (p.Val398=)
c.624G>T (p.Val208=)
n.1772-2576C>A
c.1149G>T (p.Val383=)
c.657G>T (p.Val219=)
2g.27364848C=CA1240242945EIF2B4,GTF3C2-AS2c.1242G= (p.Val414=)
c.*508G= (n.*508G=)
c.1239G= (p.Val413=)
c.1302G= (p.Val434=)
n.235G=
c.1305G= (p.Val435=)
c.1233G= (p.Val411=)
c.1197G= (p.Val399=)
c.1194G= (p.Val398=)
c.624G= (p.Val208=)
n.1772-2576C=
c.1149G= (p.Val383=)
c.657G= (p.Val219=)
2g.27364848C>GCA425410352EIF2B4,GTF3C2-AS2c.1242G>C (p.Val414=)
c.*508G>C (n.*508G>C)
c.1239G>C (p.Val413=)
c.1302G>C (p.Val434=)
n.235G>C
c.1305G>C (p.Val435=)
c.1233G>C (p.Val411=)
c.1197G>C (p.Val399=)
c.1194G>C (p.Val398=)
c.624G>C (p.Val208=)
n.1772-2576C>G
c.1149G>C (p.Val383=)
c.657G>C (p.Val219=)
2g.27364848C>TCA425410353EIF2B4,GTF3C2-AS2c.1242G>A (p.Val414=)
c.*508G>A (n.*508G>A)
c.1239G>A (p.Val413=)
c.1302G>A (p.Val434=)
n.235G>A
c.1305G>A (p.Val435=)
c.1233G>A (p.Val411=)
c.1197G>A (p.Val399=)
c.1194G>A (p.Val398=)
c.624G>A (p.Val208=)
n.1772-2576C>T
c.1149G>A (p.Val383=)
c.657G>A (p.Val219=)
 dbSNP gnomAD v2 gnomAD v4
2g.27364849A>CCA346197237EIF2B4,GTF3C2-AS2c.1241T>G (p.Val414Gly)
c.*507T>G (n.*507T>G)
c.1238T>G (p.Val413Gly)
c.1301T>G (p.Val434Gly)
n.234T>G
c.1304T>G (p.Val435Gly)
c.1232T>G (p.Val411Gly)
c.1196T>G (p.Val399Gly)
c.1193T>G (p.Val398Gly)
c.623T>G (p.Val208Gly)
n.1772-2575A>C
c.1148T>G (p.Val383Gly)
c.656T>G (p.Val219Gly)
2g.27364849A>GCA346197238EIF2B4,GTF3C2-AS2c.1241T>C (p.Val414Ala)
c.*507T>C (n.*507T>C)
c.1238T>C (p.Val413Ala)
c.1301T>C (p.Val434Ala)
n.234T>C
c.1304T>C (p.Val435Ala)
c.1232T>C (p.Val411Ala)
c.1196T>C (p.Val399Ala)
c.1193T>C (p.Val398Ala)
c.623T>C (p.Val208Ala)
n.1772-2575A>G
c.1148T>C (p.Val383Ala)
c.656T>C (p.Val219Ala)
2g.27364849A>TCA346197240EIF2B4,GTF3C2-AS2c.1241T>A (p.Val414Glu)
c.*507T>A (n.*507T>A)
c.1238T>A (p.Val413Glu)
c.1301T>A (p.Val434Glu)
n.234T>A
c.1304T>A (p.Val435Glu)
c.1232T>A (p.Val411Glu)
c.1196T>A (p.Val399Glu)
c.1193T>A (p.Val398Glu)
c.623T>A (p.Val208Glu)
n.1772-2575A>T
c.1148T>A (p.Val383Glu)
c.656T>A (p.Val219Glu)
2g.27364850C>ACA346197242EIF2B4,GTF3C2-AS2c.1240G>T (p.Val414Leu)
c.*506G>T (n.*506G>T)
c.1237G>T (p.Val413Leu)
c.1300G>T (p.Val434Leu)
n.233G>T
c.1303G>T (p.Val435Leu)
c.1231G>T (p.Val411Leu)
c.1195G>T (p.Val399Leu)
c.1192G>T (p.Val398Leu)
c.622G>T (p.Val208Leu)
n.1772-2574C>A
c.1147G>T (p.Val383Leu)
c.655G>T (p.Val219Leu)
2g.27364850C=CA1240242946EIF2B4,GTF3C2-AS2c.1240G= (p.Val414=)
c.*506G= (n.*506G=)
c.1237G= (p.Val413=)
c.1300G= (p.Val434=)
n.233G=
c.1303G= (p.Val435=)
c.1231G= (p.Val411=)
c.1195G= (p.Val399=)
c.1192G= (p.Val398=)
c.622G= (p.Val208=)
n.1772-2574C=
c.1147G= (p.Val383=)
c.655G= (p.Val219=)
2g.27364850C>GCA346197243EIF2B4,GTF3C2-AS2c.1240G>C (p.Val414Leu)
c.*506G>C (n.*506G>C)
c.1237G>C (p.Val413Leu)
c.1300G>C (p.Val434Leu)
n.233G>C
c.1303G>C (p.Val435Leu)
c.1231G>C (p.Val411Leu)
c.1195G>C (p.Val399Leu)
c.1192G>C (p.Val398Leu)
c.622G>C (p.Val208Leu)
n.1772-2574C>G
c.1147G>C (p.Val383Leu)
c.655G>C (p.Val219Leu)
 dbSNP
2g.27364850C>TCA346197244EIF2B4,GTF3C2-AS2c.1240G>A (p.Val414Met)
c.*506G>A (n.*506G>A)
c.1237G>A (p.Val413Met)
c.1300G>A (p.Val434Met)
n.233G>A
c.1303G>A (p.Val435Met)
c.1231G>A (p.Val411Met)
c.1195G>A (p.Val399Met)
c.1192G>A (p.Val398Met)
c.622G>A (p.Val208Met)
n.1772-2574C>T
c.1147G>A (p.Val383Met)
c.655G>A (p.Val219Met)
2g.27364851A>CCA425410357EIF2B4,GTF3C2-AS2c.1239T>G (p.Ser413=)
c.*505T>G (n.*505T>G)
c.1236T>G (p.Ser412=)
c.1299T>G (p.Ser433=)
n.232T>G
c.1302T>G (p.Ser434=)
c.1230T>G (p.Ser410=)
c.1194T>G (p.Ser398=)
c.1191T>G (p.Ser397=)
c.621T>G (p.Ser207=)
n.1772-2573A>C
c.1146T>G (p.Ser382=)
c.654T>G (p.Ser218=)
2g.27364851A>GCA425410359EIF2B4,GTF3C2-AS2c.1239T>C (p.Ser413=)
c.*505T>C (n.*505T>C)
c.1236T>C (p.Ser412=)
c.1299T>C (p.Ser433=)
n.232T>C
c.1302T>C (p.Ser434=)
c.1230T>C (p.Ser410=)
c.1194T>C (p.Ser398=)
c.1191T>C (p.Ser397=)
c.621T>C (p.Ser207=)
n.1772-2573A>G
c.1146T>C (p.Ser382=)
c.654T>C (p.Ser218=)
2g.27364851A>TCA425410358EIF2B4,GTF3C2-AS2c.1239T>A (p.Ser413=)
c.*505T>A (n.*505T>A)
c.1236T>A (p.Ser412=)
c.1299T>A (p.Ser433=)
n.232T>A
c.1302T>A (p.Ser434=)
c.1230T>A (p.Ser410=)
c.1194T>A (p.Ser398=)
c.1191T>A (p.Ser397=)
c.621T>A (p.Ser207=)
n.1772-2573A>T
c.1146T>A (p.Ser382=)
c.654T>A (p.Ser218=)
2g.27364851_27364852insTCACCCA645539328EIF2B4,GTF3C2-AS2c.1238_1239insGGTGA (p.Ser416Ter)
c.*504_*505insGGTGA (n.*504_*505insGGTGA)
c.1235_1236insGGTGA (p.Ser415Ter)
c.1298_1299insGGTGA (p.Ser436Ter)
n.231_232insGGTGA
c.1301_1302insGGTGA (p.Ser437Ter)
c.1229_1230insGGTGA (p.Ser413Ter)
c.1193_1194insGGTGA (p.Ser401Ter)
c.1190_1191insGGTGA (p.Ser400Ter)
c.620_621insGGTGA (p.Ser210Ter)
n.1772-2573_1772-2572insTCACC
c.1145_1146insGGTGA (p.Ser385Ter)
c.653_654insGGTGA (p.Ser221Ter)
 COSMIC COSMIC
2g.27364852G>ACA346197246EIF2B4,GTF3C2-AS2c.1238C>T (p.Ser413Phe)
c.*504C>T (n.*504C>T)
c.1235C>T (p.Ser412Phe)
c.1298C>T (p.Ser433Phe)
n.231C>T
c.1301C>T (p.Ser434Phe)
c.1229C>T (p.Ser410Phe)
c.1193C>T (p.Ser398Phe)
c.1190C>T (p.Ser397Phe)
c.620C>T (p.Ser207Phe)
n.1772-2572G>A
c.1145C>T (p.Ser382Phe)
c.653C>T (p.Ser218Phe)
2g.27364852G>CCA346197247EIF2B4,GTF3C2-AS2c.1238C>G (p.Ser413Cys)
c.*504C>G (n.*504C>G)
c.1235C>G (p.Ser412Cys)
c.1298C>G (p.Ser433Cys)
n.231C>G
c.1301C>G (p.Ser434Cys)
c.1229C>G (p.Ser410Cys)
c.1193C>G (p.Ser398Cys)
c.1190C>G (p.Ser397Cys)
c.620C>G (p.Ser207Cys)
n.1772-2572G>C
c.1145C>G (p.Ser382Cys)
c.653C>G (p.Ser218Cys)
2g.27364852G>TCA346197248EIF2B4,GTF3C2-AS2c.1238C>A (p.Ser413Tyr)
c.*504C>A (n.*504C>A)
c.1235C>A (p.Ser412Tyr)
c.1298C>A (p.Ser433Tyr)
n.231C>A
c.1301C>A (p.Ser434Tyr)
c.1229C>A (p.Ser410Tyr)
c.1193C>A (p.Ser398Tyr)
c.1190C>A (p.Ser397Tyr)
c.620C>A (p.Ser207Tyr)
n.1772-2572G>T
c.1145C>A (p.Ser382Tyr)
c.653C>A (p.Ser218Tyr)
2g.27364853A>CCA346197249EIF2B4,GTF3C2-AS2c.1237T>G (p.Ser413Ala)
c.*503T>G (n.*503T>G)
c.1234T>G (p.Ser412Ala)
c.1297T>G (p.Ser433Ala)
n.230T>G
c.1300T>G (p.Ser434Ala)
c.1228T>G (p.Ser410Ala)
c.1192T>G (p.Ser398Ala)
c.1189T>G (p.Ser397Ala)
c.619T>G (p.Ser207Ala)
n.1772-2571A>C
c.1144T>G (p.Ser382Ala)
c.652T>G (p.Ser218Ala)
2g.27364853A>GCA346197250EIF2B4,GTF3C2-AS2c.1237T>C (p.Ser413Pro)
c.*503T>C (n.*503T>C)
c.1234T>C (p.Ser412Pro)
c.1297T>C (p.Ser433Pro)
n.230T>C
c.1300T>C (p.Ser434Pro)
c.1228T>C (p.Ser410Pro)
c.1192T>C (p.Ser398Pro)
c.1189T>C (p.Ser397Pro)
c.619T>C (p.Ser207Pro)
n.1772-2571A>G
c.1144T>C (p.Ser382Pro)
c.652T>C (p.Ser218Pro)
2g.27364853A>TCA346197251EIF2B4,GTF3C2-AS2c.1237T>A (p.Ser413Thr)
c.*503T>A (n.*503T>A)
c.1234T>A (p.Ser412Thr)
c.1297T>A (p.Ser433Thr)
n.230T>A
c.1300T>A (p.Ser434Thr)
c.1228T>A (p.Ser410Thr)
c.1192T>A (p.Ser398Thr)
c.1189T>A (p.Ser397Thr)
c.619T>A (p.Ser207Thr)
n.1772-2571A>T
c.1144T>A (p.Ser382Thr)
c.652T>A (p.Ser218Thr)
2g.27364854C>ACA425410364EIF2B4,GTF3C2-AS2c.1236G>T (p.Gly412=)
c.*502G>T (n.*502G>T)
c.1233G>T (p.Gly411=)
c.1296G>T (p.Gly432=)
n.229G>T
c.1299G>T (p.Gly433=)
c.1227G>T (p.Gly409=)
c.1191G>T (p.Gly397=)
c.1188G>T (p.Gly396=)
c.618G>T (p.Gly206=)
n.1772-2570C>A
c.1143G>T (p.Gly381=)
c.651G>T (p.Gly217=)
2g.27364854C=CA1240242947EIF2B4,GTF3C2-AS2c.1236G= (p.Gly412=)
c.*502G= (n.*502G=)
c.1233G= (p.Gly411=)
c.1296G= (p.Gly432=)
n.229G=
c.1299G= (p.Gly433=)
c.1227G= (p.Gly409=)
c.1191G= (p.Gly397=)
c.1188G= (p.Gly396=)
c.618G= (p.Gly206=)
n.1772-2570C=
c.1143G= (p.Gly381=)
c.651G= (p.Gly217=)
2g.27364854C>GCA425410367EIF2B4,GTF3C2-AS2c.1236G>C (p.Gly412=)
c.*502G>C (n.*502G>C)
c.1233G>C (p.Gly411=)
c.1296G>C (p.Gly432=)
n.229G>C
c.1299G>C (p.Gly433=)
c.1227G>C (p.Gly409=)
c.1191G>C (p.Gly397=)
c.1188G>C (p.Gly396=)
c.618G>C (p.Gly206=)
n.1772-2570C>G
c.1143G>C (p.Gly381=)
c.651G>C (p.Gly217=)
2g.27364854C>TCA425410368EIF2B4,GTF3C2-AS2c.1236G>A (p.Gly412=)
c.*502G>A (n.*502G>A)
c.1233G>A (p.Gly411=)
c.1296G>A (p.Gly432=)
n.229G>A
c.1299G>A (p.Gly433=)
c.1227G>A (p.Gly409=)
c.1191G>A (p.Gly397=)
c.1188G>A (p.Gly396=)
c.618G>A (p.Gly206=)
n.1772-2570C>T
c.1143G>A (p.Gly381=)
c.651G>A (p.Gly217=)
 ClinVar dbSNP
2g.27364855C>ACA346197254EIF2B4,GTF3C2-AS2c.1235G>T (p.Gly412Val)
c.*501G>T (n.*501G>T)
c.1232G>T (p.Gly411Val)
c.1295G>T (p.Gly432Val)
n.228G>T
c.1298G>T (p.Gly433Val)
c.1226G>T (p.Gly409Val)
c.1190G>T (p.Gly397Val)
c.1187G>T (p.Gly396Val)
c.617G>T (p.Gly206Val)
n.1772-2569C>A
c.1142G>T (p.Gly381Val)
c.650G>T (p.Gly217Val)
2g.27364855C>GCA346197252EIF2B4,GTF3C2-AS2c.1235G>C (p.Gly412Ala)
c.*501G>C (n.*501G>C)
c.1232G>C (p.Gly411Ala)
c.1295G>C (p.Gly432Ala)
n.228G>C
c.1298G>C (p.Gly433Ala)
c.1226G>C (p.Gly409Ala)
c.1190G>C (p.Gly397Ala)
c.1187G>C (p.Gly396Ala)
c.617G>C (p.Gly206Ala)
n.1772-2569C>G
c.1142G>C (p.Gly381Ala)
c.650G>C (p.Gly217Ala)
2g.27364855C>TCA346197253EIF2B4,GTF3C2-AS2c.1235G>A (p.Gly412Glu)
c.*501G>A (n.*501G>A)
c.1232G>A (p.Gly411Glu)
c.1295G>A (p.Gly432Glu)
n.228G>A
c.1298G>A (p.Gly433Glu)
c.1226G>A (p.Gly409Glu)
c.1190G>A (p.Gly397Glu)
c.1187G>A (p.Gly396Glu)
c.617G>A (p.Gly206Glu)
n.1772-2569C>T
c.1142G>A (p.Gly381Glu)
c.650G>A (p.Gly217Glu)
2g.27364856C>ACA346197255EIF2B4,GTF3C2-AS2c.1234G>T (p.Gly412Trp)
c.*500G>T (n.*500G>T)
c.1231G>T (p.Gly411Trp)
c.1294G>T (p.Gly432Trp)
n.227G>T
c.1297G>T (p.Gly433Trp)
c.1225G>T (p.Gly409Trp)
c.1189G>T (p.Gly397Trp)
c.1186G>T (p.Gly396Trp)
c.616G>T (p.Gly206Trp)
n.1772-2568C>A
c.1141G>T (p.Gly381Trp)
c.649G>T (p.Gly217Trp)
2g.27364856C=CA1240242948EIF2B4,GTF3C2-AS2c.1234G= (p.Gly412=)
c.*500G= (n.*500G=)
c.1231G= (p.Gly411=)
c.1294G= (p.Gly432=)
n.227G=
c.1297G= (p.Gly433=)
c.1225G= (p.Gly409=)
c.1189G= (p.Gly397=)
c.1186G= (p.Gly396=)
c.616G= (p.Gly206=)
n.1772-2568C=
c.1141G= (p.Gly381=)
c.649G= (p.Gly217=)
2g.27364856C>GCA346197256EIF2B4,GTF3C2-AS2c.1234G>C (p.Gly412Arg)
c.*500G>C (n.*500G>C)
c.1231G>C (p.Gly411Arg)
c.1294G>C (p.Gly432Arg)
n.227G>C
c.1297G>C (p.Gly433Arg)
c.1225G>C (p.Gly409Arg)
c.1189G>C (p.Gly397Arg)
c.1186G>C (p.Gly396Arg)
c.616G>C (p.Gly206Arg)
n.1772-2568C>G
c.1141G>C (p.Gly381Arg)
c.649G>C (p.Gly217Arg)
2g.27364856C>TCA346197257EIF2B4,GTF3C2-AS2c.1234G>A (p.Gly412Arg)
c.*500G>A (n.*500G>A)
c.1231G>A (p.Gly411Arg)
c.1294G>A (p.Gly432Arg)
n.227G>A
c.1297G>A (p.Gly433Arg)
c.1225G>A (p.Gly409Arg)
c.1189G>A (p.Gly397Arg)
c.1186G>A (p.Gly396Arg)
c.616G>A (p.Gly206Arg)
n.1772-2568C>T
c.1141G>A (p.Gly381Arg)
c.649G>A (p.Gly217Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.27364857G>ACA148784EIF2B4,GTF3C2-AS2c.1233C>T (p.Asn411=)
c.*499C>T (n.*499C>T)
c.1230C>T (p.Asn410=)
c.1293C>T (p.Asn431=)
n.226C>T
c.1296C>T (p.Asn432=)
c.1224C>T (p.Asn408=)
c.1188C>T (p.Asn396=)
c.1185C>T (p.Asn395=)
c.615C>T (p.Asn205=)
n.1772-2567G>A
c.1140C>T (p.Asn380=)
c.648C>T (p.Asn216=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364857G>CCA346197258EIF2B4,GTF3C2-AS2c.1233C>G (p.Asn411Lys)
c.*499C>G (n.*499C>G)
c.1230C>G (p.Asn410Lys)
c.1293C>G (p.Asn431Lys)
n.226C>G
c.1296C>G (p.Asn432Lys)
c.1224C>G (p.Asn408Lys)
c.1188C>G (p.Asn396Lys)
c.1185C>G (p.Asn395Lys)
c.615C>G (p.Asn205Lys)
n.1772-2567G>C
c.1140C>G (p.Asn380Lys)
c.648C>G (p.Asn216Lys)
2g.27364857G=CA1240242949EIF2B4,GTF3C2-AS2c.1233C= (p.Asn411=)
c.*499C= (n.*499C=)
c.1230C= (p.Asn410=)
c.1293C= (p.Asn431=)
n.226C=
c.1296C= (p.Asn432=)
c.1224C= (p.Asn408=)
c.1188C= (p.Asn396=)
c.1185C= (p.Asn395=)
c.615C= (p.Asn205=)
n.1772-2567G=
c.1140C= (p.Asn380=)
c.648C= (p.Asn216=)
2g.27364857G>TCA346197259EIF2B4,GTF3C2-AS2c.1233C>A (p.Asn411Lys)
c.*499C>A (n.*499C>A)
c.1230C>A (p.Asn410Lys)
c.1293C>A (p.Asn431Lys)
n.226C>A
c.1296C>A (p.Asn432Lys)
c.1224C>A (p.Asn408Lys)
c.1188C>A (p.Asn396Lys)
c.1185C>A (p.Asn395Lys)
c.615C>A (p.Asn205Lys)
n.1772-2567G>T
c.1140C>A (p.Asn380Lys)
c.648C>A (p.Asn216Lys)
2g.27364858T>ACA346197260EIF2B4,GTF3C2-AS2c.1232A>T (p.Asn411Ile)
c.*498A>T (n.*498A>T)
c.1229A>T (p.Asn410Ile)
c.1292A>T (p.Asn431Ile)
n.225A>T
c.1295A>T (p.Asn432Ile)
c.1223A>T (p.Asn408Ile)
c.1187A>T (p.Asn396Ile)
c.1184A>T (p.Asn395Ile)
c.614A>T (p.Asn205Ile)
n.1772-2566T>A
c.1139A>T (p.Asn380Ile)
c.647A>T (p.Asn216Ile)
2g.27364858T>CCA346197261EIF2B4,GTF3C2-AS2c.1232A>G (p.Asn411Ser)
c.*498A>G (n.*498A>G)
c.1229A>G (p.Asn410Ser)
c.1292A>G (p.Asn431Ser)
n.225A>G
c.1295A>G (p.Asn432Ser)
c.1223A>G (p.Asn408Ser)
c.1187A>G (p.Asn396Ser)
c.1184A>G (p.Asn395Ser)
c.614A>G (p.Asn205Ser)
n.1772-2566T>C
c.1139A>G (p.Asn380Ser)
c.647A>G (p.Asn216Ser)
2g.27364858T>GCA346197262EIF2B4,GTF3C2-AS2c.1232A>C (p.Asn411Thr)
c.*498A>C (n.*498A>C)
c.1229A>C (p.Asn410Thr)
c.1292A>C (p.Asn431Thr)
n.225A>C
c.1295A>C (p.Asn432Thr)
c.1223A>C (p.Asn408Thr)
c.1187A>C (p.Asn396Thr)
c.1184A>C (p.Asn395Thr)
c.614A>C (p.Asn205Thr)
n.1772-2566T>G
c.1139A>C (p.Asn380Thr)
c.647A>C (p.Asn216Thr)
2g.27364859T>ACA346197263EIF2B4,GTF3C2-AS2c.1231A>T (p.Asn411Tyr)
c.*497A>T (n.*497A>T)
c.1228A>T (p.Asn410Tyr)
c.1291A>T (p.Asn431Tyr)
n.224A>T
c.1294A>T (p.Asn432Tyr)
c.1222A>T (p.Asn408Tyr)
c.1186A>T (p.Asn396Tyr)
c.1183A>T (p.Asn395Tyr)
c.613A>T (p.Asn205Tyr)
n.1772-2565T>A
c.1138A>T (p.Asn380Tyr)
c.646A>T (p.Asn216Tyr)
2g.27364859T>CCA346197265EIF2B4,GTF3C2-AS2c.1231A>G (p.Asn411Asp)
c.*497A>G (n.*497A>G)
c.1228A>G (p.Asn410Asp)
c.1291A>G (p.Asn431Asp)
n.224A>G
c.1294A>G (p.Asn432Asp)
c.1222A>G (p.Asn408Asp)
c.1186A>G (p.Asn396Asp)
c.1183A>G (p.Asn395Asp)
c.613A>G (p.Asn205Asp)
n.1772-2565T>C
c.1138A>G (p.Asn380Asp)
c.646A>G (p.Asn216Asp)
2g.27364859T>GCA346197266EIF2B4,GTF3C2-AS2c.1231A>C (p.Asn411His)
c.*497A>C (n.*497A>C)
c.1228A>C (p.Asn410His)
c.1291A>C (p.Asn431His)
n.224A>C
c.1294A>C (p.Asn432His)
c.1222A>C (p.Asn408His)
c.1186A>C (p.Asn396His)
c.1183A>C (p.Asn395His)
c.613A>C (p.Asn205His)
n.1772-2565T>G
c.1138A>C (p.Asn380His)
c.646A>C (p.Asn216His)
2g.27364860G>ACA1576614EIF2B4,GTF3C2-AS2c.1230C>T (p.Ala410=)
c.*496C>T (n.*496C>T)
c.1227C>T (p.Ala409=)
c.1290C>T (p.Ala430=)
n.223C>T
c.1293C>T (p.Ala431=)
c.1221C>T (p.Ala407=)
c.1185C>T (p.Ala395=)
c.1182C>T (p.Ala394=)
c.612C>T (p.Ala204=)
n.1772-2564G>A
c.1137C>T (p.Ala379=)
c.645C>T (p.Ala215=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364860G>CCA425410373EIF2B4,GTF3C2-AS2c.1230C>G (p.Ala410=)
c.*496C>G (n.*496C>G)
c.1227C>G (p.Ala409=)
c.1290C>G (p.Ala430=)
n.223C>G
c.1293C>G (p.Ala431=)
c.1221C>G (p.Ala407=)
c.1185C>G (p.Ala395=)
c.1182C>G (p.Ala394=)
c.612C>G (p.Ala204=)
n.1772-2564G>C
c.1137C>G (p.Ala379=)
c.645C>G (p.Ala215=)
2g.27364860G=CA1240242950EIF2B4,GTF3C2-AS2c.1230C= (p.Ala410=)
c.*496C= (n.*496C=)
c.1227C= (p.Ala409=)
c.1290C= (p.Ala430=)
n.223C=
c.1293C= (p.Ala431=)
c.1221C= (p.Ala407=)
c.1185C= (p.Ala395=)
c.1182C= (p.Ala394=)
c.612C= (p.Ala204=)
n.1772-2564G=
c.1137C= (p.Ala379=)
c.645C= (p.Ala215=)
2g.27364860G>TCA425410374EIF2B4,GTF3C2-AS2c.1230C>A (p.Ala410=)
c.*496C>A (n.*496C>A)
c.1227C>A (p.Ala409=)
c.1290C>A (p.Ala430=)
n.223C>A
c.1293C>A (p.Ala431=)
c.1221C>A (p.Ala407=)
c.1185C>A (p.Ala395=)
c.1182C>A (p.Ala394=)
c.612C>A (p.Ala204=)
n.1772-2564G>T
c.1137C>A (p.Ala379=)
c.645C>A (p.Ala215=)
2g.27364861G>ACA346197270EIF2B4,GTF3C2-AS2c.1229C>T (p.Ala410Val)
c.*495C>T (n.*495C>T)
c.1226C>T (p.Ala409Val)
c.1289C>T (p.Ala430Val)
n.222C>T
c.1292C>T (p.Ala431Val)
c.1220C>T (p.Ala407Val)
c.1184C>T (p.Ala395Val)
c.1181C>T (p.Ala394Val)
c.611C>T (p.Ala204Val)
n.1772-2563G>A
c.1136C>T (p.Ala379Val)
c.644C>T (p.Ala215Val)
2g.27364861G>CCA1576615EIF2B4,GTF3C2-AS2c.1229C>G (p.Ala410Gly)
c.*495C>G (n.*495C>G)
c.1226C>G (p.Ala409Gly)
c.1289C>G (p.Ala430Gly)
n.222C>G
c.1292C>G (p.Ala431Gly)
c.1220C>G (p.Ala407Gly)
c.1184C>G (p.Ala395Gly)
c.1181C>G (p.Ala394Gly)
c.611C>G (p.Ala204Gly)
n.1772-2563G>C
c.1136C>G (p.Ala379Gly)
c.644C>G (p.Ala215Gly)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.27364861G=CA1240242951EIF2B4,GTF3C2-AS2c.1229C= (p.Ala410=)
c.*495C= (n.*495C=)
c.1226C= (p.Ala409=)
c.1289C= (p.Ala430=)
n.222C=
c.1292C= (p.Ala431=)
c.1220C= (p.Ala407=)
c.1184C= (p.Ala395=)
c.1181C= (p.Ala394=)
c.611C= (p.Ala204=)
n.1772-2563G=
c.1136C= (p.Ala379=)
c.644C= (p.Ala215=)
2g.27364861G>TCA346197268EIF2B4,GTF3C2-AS2c.1229C>A (p.Ala410Asp)
c.*495C>A (n.*495C>A)
c.1226C>A (p.Ala409Asp)
c.1289C>A (p.Ala430Asp)
n.222C>A
c.1292C>A (p.Ala431Asp)
c.1220C>A (p.Ala407Asp)
c.1184C>A (p.Ala395Asp)
c.1181C>A (p.Ala394Asp)
c.611C>A (p.Ala204Asp)
n.1772-2563G>T
c.1136C>A (p.Ala379Asp)
c.644C>A (p.Ala215Asp)
2g.27364862C>ACA346197271EIF2B4,GTF3C2-AS2c.1228G>T (p.Ala410Ser)
c.*494G>T (n.*494G>T)
c.1225G>T (p.Ala409Ser)
c.1288G>T (p.Ala430Ser)
n.221G>T
c.1291G>T (p.Ala431Ser)
c.1219G>T (p.Ala407Ser)
c.1183G>T (p.Ala395Ser)
c.1180G>T (p.Ala394Ser)
c.610G>T (p.Ala204Ser)
n.1772-2562C>A
c.1135G>T (p.Ala379Ser)
c.643G>T (p.Ala215Ser)
2g.27364862C>GCA346197272EIF2B4,GTF3C2-AS2c.1228G>C (p.Ala410Pro)
c.*494G>C (n.*494G>C)
c.1225G>C (p.Ala409Pro)
c.1288G>C (p.Ala430Pro)
n.221G>C
c.1291G>C (p.Ala431Pro)
c.1219G>C (p.Ala407Pro)
c.1183G>C (p.Ala395Pro)
c.1180G>C (p.Ala394Pro)
c.610G>C (p.Ala204Pro)
n.1772-2562C>G
c.1135G>C (p.Ala379Pro)
c.643G>C (p.Ala215Pro)
2g.27364862C>TCA346197273EIF2B4,GTF3C2-AS2c.1228G>A (p.Ala410Thr)
c.*494G>A (n.*494G>A)
c.1225G>A (p.Ala409Thr)
c.1288G>A (p.Ala430Thr)
n.221G>A
c.1291G>A (p.Ala431Thr)
c.1219G>A (p.Ala407Thr)
c.1183G>A (p.Ala395Thr)
c.1180G>A (p.Ala394Thr)
c.610G>A (p.Ala204Thr)
n.1772-2562C>T
c.1135G>A (p.Ala379Thr)
c.643G>A (p.Ala215Thr)
2g.27364863C>ACA346197274EIF2B4,GTF3C2-AS2c.1227G>T (p.Leu409Phe)
c.*493G>T (n.*493G>T)
c.1224G>T (p.Leu408Phe)
c.1287G>T (p.Leu429Phe)
n.220G>T
c.1290G>T (p.Leu430Phe)
c.1218G>T (p.Leu406Phe)
c.1182G>T (p.Leu394Phe)
c.1179G>T (p.Leu393Phe)
c.609G>T (p.Leu203Phe)
n.1772-2561C>A
c.1134G>T (p.Leu378Phe)
c.642G>T (p.Leu214Phe)
2g.27364863C>GCA346197276EIF2B4,GTF3C2-AS2c.1227G>C (p.Leu409Phe)
c.*493G>C (n.*493G>C)
c.1224G>C (p.Leu408Phe)
c.1287G>C (p.Leu429Phe)
n.220G>C
c.1290G>C (p.Leu430Phe)
c.1218G>C (p.Leu406Phe)
c.1182G>C (p.Leu394Phe)
c.1179G>C (p.Leu393Phe)
c.609G>C (p.Leu203Phe)
n.1772-2561C>G
c.1134G>C (p.Leu378Phe)
c.642G>C (p.Leu214Phe)
2g.27364863C>TCA425410375EIF2B4,GTF3C2-AS2c.1227G>A (p.Leu409=)
c.*493G>A (n.*493G>A)
c.1224G>A (p.Leu408=)
c.1287G>A (p.Leu429=)
n.220G>A
c.1290G>A (p.Leu430=)
c.1218G>A (p.Leu406=)
c.1182G>A (p.Leu394=)
c.1179G>A (p.Leu393=)
c.609G>A (p.Leu203=)
n.1772-2561C>T
c.1134G>A (p.Leu378=)
c.642G>A (p.Leu214=)
2g.27364864A=CA1240242952EIF2B4,GTF3C2-AS2c.1226T= (p.Leu409=)
c.*492T= (n.*492T=)
c.1223T= (p.Leu408=)
c.1286T= (p.Leu429=)
n.219T=
c.1289T= (p.Leu430=)
c.1217T= (p.Leu406=)
c.1181T= (p.Leu394=)
c.1178T= (p.Leu393=)
c.608T= (p.Leu203=)
n.1772-2560A=
c.1133T= (p.Leu378=)
c.641T= (p.Leu214=)
2g.27364864A>CCA346197277EIF2B4,GTF3C2-AS2c.1226T>G (p.Leu409Trp)
c.*492T>G (n.*492T>G)
c.1223T>G (p.Leu408Trp)
c.1286T>G (p.Leu429Trp)
n.219T>G
c.1289T>G (p.Leu430Trp)
c.1217T>G (p.Leu406Trp)
c.1181T>G (p.Leu394Trp)
c.1178T>G (p.Leu393Trp)
c.608T>G (p.Leu203Trp)
n.1772-2560A>C
c.1133T>G (p.Leu378Trp)
c.641T>G (p.Leu214Trp)
2g.27364864A>GCA346197279EIF2B4,GTF3C2-AS2c.1226T>C (p.Leu409Ser)
c.*492T>C (n.*492T>C)
c.1223T>C (p.Leu408Ser)
c.1286T>C (p.Leu429Ser)
n.219T>C
c.1289T>C (p.Leu430Ser)
c.1217T>C (p.Leu406Ser)
c.1181T>C (p.Leu394Ser)
c.1178T>C (p.Leu393Ser)
c.608T>C (p.Leu203Ser)
n.1772-2560A>G
c.1133T>C (p.Leu378Ser)
c.641T>C (p.Leu214Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364864A>TCA346197280EIF2B4,GTF3C2-AS2c.1226T>A (p.Leu409Ter)
c.*492T>A (n.*492T>A)
c.1223T>A (p.Leu408Ter)
c.1286T>A (p.Leu429Ter)
n.219T>A
c.1289T>A (p.Leu430Ter)
c.1217T>A (p.Leu406Ter)
c.1181T>A (p.Leu394Ter)
c.1178T>A (p.Leu393Ter)
c.608T>A (p.Leu203Ter)
n.1772-2560A>T
c.1133T>A (p.Leu378Ter)
c.641T>A (p.Leu214Ter)
2g.27364865A=CA1240242953EIF2B4,GTF3C2-AS2c.1225T= (p.Leu409=)
c.*491T= (n.*491T=)
c.1222T= (p.Leu408=)
c.1285T= (p.Leu429=)
n.218T=
c.1288T= (p.Leu430=)
c.1216T= (p.Leu406=)
c.1180T= (p.Leu394=)
c.1177T= (p.Leu393=)
c.607T= (p.Leu203=)
n.1772-2559A=
c.1132T= (p.Leu378=)
c.640T= (p.Leu214=)
2g.27364865A>CCA346197282EIF2B4,GTF3C2-AS2c.1225T>G (p.Leu409Val)
c.*491T>G (n.*491T>G)
c.1222T>G (p.Leu408Val)
c.1285T>G (p.Leu429Val)
n.218T>G
c.1288T>G (p.Leu430Val)
c.1216T>G (p.Leu406Val)
c.1180T>G (p.Leu394Val)
c.1177T>G (p.Leu393Val)
c.607T>G (p.Leu203Val)
n.1772-2559A>C
c.1132T>G (p.Leu378Val)
c.640T>G (p.Leu214Val)
2g.27364865A>GCA44509722EIF2B4,GTF3C2-AS2c.1225T>C (p.Leu409=)
c.*491T>C (n.*491T>C)
c.1222T>C (p.Leu408=)
c.1285T>C (p.Leu429=)
n.218T>C
c.1288T>C (p.Leu430=)
c.1216T>C (p.Leu406=)
c.1180T>C (p.Leu394=)
c.1177T>C (p.Leu393=)
c.607T>C (p.Leu203=)
n.1772-2559A>G
c.1132T>C (p.Leu378=)
c.640T>C (p.Leu214=)
 dbSNP
2g.27364865A>TCA346197283EIF2B4,GTF3C2-AS2c.1225T>A (p.Leu409Met)
c.*491T>A (n.*491T>A)
c.1222T>A (p.Leu408Met)
c.1285T>A (p.Leu429Met)
n.218T>A
c.1288T>A (p.Leu430Met)
c.1216T>A (p.Leu406Met)
c.1180T>A (p.Leu394Met)
c.1177T>A (p.Leu393Met)
c.607T>A (p.Leu203Met)
n.1772-2559A>T
c.1132T>A (p.Leu378Met)
c.640T>A (p.Leu214Met)
2g.27364866G>ACA425410385EIF2B4,GTF3C2-AS2c.1224C>T (p.Leu408=)
c.*490C>T (n.*490C>T)
c.1221C>T (p.Leu407=)
c.1284C>T (p.Leu428=)
n.217C>T
c.1287C>T (p.Leu429=)
c.1215C>T (p.Leu405=)
c.1179C>T (p.Leu393=)
c.1176C>T (p.Leu392=)
c.606C>T (p.Leu202=)
n.1772-2558G>A
c.1131C>T (p.Leu377=)
c.639C>T (p.Leu213=)
2g.27364866G>CCA425410381EIF2B4,GTF3C2-AS2c.1224C>G (p.Leu408=)
c.*490C>G (n.*490C>G)
c.1221C>G (p.Leu407=)
c.1284C>G (p.Leu428=)
n.217C>G
c.1287C>G (p.Leu429=)
c.1215C>G (p.Leu405=)
c.1179C>G (p.Leu393=)
c.1176C>G (p.Leu392=)
c.606C>G (p.Leu202=)
n.1772-2558G>C
c.1131C>G (p.Leu377=)
c.639C>G (p.Leu213=)
2g.27364866G>TCA425410382EIF2B4,GTF3C2-AS2c.1224C>A (p.Leu408=)
c.*490C>A (n.*490C>A)
c.1221C>A (p.Leu407=)
c.1284C>A (p.Leu428=)
n.217C>A
c.1287C>A (p.Leu429=)
c.1215C>A (p.Leu405=)
c.1179C>A (p.Leu393=)
c.1176C>A (p.Leu392=)
c.606C>A (p.Leu202=)
n.1772-2558G>T
c.1131C>A (p.Leu377=)
c.639C>A (p.Leu213=)
2g.27364867A>CCA346197284EIF2B4,GTF3C2-AS2c.1223T>G (p.Leu408Arg)
c.*489T>G (n.*489T>G)
c.1220T>G (p.Leu407Arg)
c.1283T>G (p.Leu428Arg)
n.216T>G
c.1286T>G (p.Leu429Arg)
c.1214T>G (p.Leu405Arg)
c.1178T>G (p.Leu393Arg)
c.1175T>G (p.Leu392Arg)
c.605T>G (p.Leu202Arg)
n.1772-2557A>C
c.1130T>G (p.Leu377Arg)
c.638T>G (p.Leu213Arg)
2g.27364867A>GCA346197286EIF2B4,GTF3C2-AS2c.1223T>C (p.Leu408Pro)
c.*489T>C (n.*489T>C)
c.1220T>C (p.Leu407Pro)
c.1283T>C (p.Leu428Pro)
n.216T>C
c.1286T>C (p.Leu429Pro)
c.1214T>C (p.Leu405Pro)
c.1178T>C (p.Leu393Pro)
c.1175T>C (p.Leu392Pro)
c.605T>C (p.Leu202Pro)
n.1772-2557A>G
c.1130T>C (p.Leu377Pro)
c.638T>C (p.Leu213Pro)
2g.27364867A>TCA346197287EIF2B4,GTF3C2-AS2c.1223T>A (p.Leu408His)
c.*489T>A (n.*489T>A)
c.1220T>A (p.Leu407His)
c.1283T>A (p.Leu428His)
n.216T>A
c.1286T>A (p.Leu429His)
c.1214T>A (p.Leu405His)
c.1178T>A (p.Leu393His)
c.1175T>A (p.Leu392His)
c.605T>A (p.Leu202His)
n.1772-2557A>T
c.1130T>A (p.Leu377His)
c.638T>A (p.Leu213His)
2g.27364868G>ACA346197290EIF2B4,GTF3C2-AS2c.1222C>T (p.Leu408Phe)
c.*488C>T (n.*488C>T)
c.1219C>T (p.Leu407Phe)
c.1282C>T (p.Leu428Phe)
n.215C>T
c.1285C>T (p.Leu429Phe)
c.1213C>T (p.Leu405Phe)
c.1177C>T (p.Leu393Phe)
c.1174C>T (p.Leu392Phe)
c.604C>T (p.Leu202Phe)
n.1772-2556G>A
c.1129C>T (p.Leu377Phe)
c.637C>T (p.Leu213Phe)
 gnomAD v4
2g.27364868G>CCA346197291EIF2B4,GTF3C2-AS2c.1222C>G (p.Leu408Val)
c.*488C>G (n.*488C>G)
c.1219C>G (p.Leu407Val)
c.1282C>G (p.Leu428Val)
n.215C>G
c.1285C>G (p.Leu429Val)
c.1213C>G (p.Leu405Val)
c.1177C>G (p.Leu393Val)
c.1174C>G (p.Leu392Val)
c.604C>G (p.Leu202Val)
n.1772-2556G>C
c.1129C>G (p.Leu377Val)
c.637C>G (p.Leu213Val)
2g.27364868G>TCA346197289EIF2B4,GTF3C2-AS2c.1222C>A (p.Leu408Ile)
c.*488C>A (n.*488C>A)
c.1219C>A (p.Leu407Ile)
c.1282C>A (p.Leu428Ile)
n.215C>A
c.1285C>A (p.Leu429Ile)
c.1213C>A (p.Leu405Ile)
c.1177C>A (p.Leu393Ile)
c.1174C>A (p.Leu392Ile)
c.604C>A (p.Leu202Ile)
n.1772-2556G>T
c.1129C>A (p.Leu377Ile)
c.637C>A (p.Leu213Ile)
2g.27364869T>ACA425410390EIF2B4,GTF3C2-AS2c.1221A>T (p.Ala407=)
c.*487A>T (n.*487A>T)
c.1218A>T (p.Ala406=)
c.1281A>T (p.Ala427=)
n.214A>T
c.1284A>T (p.Ala428=)
c.1212A>T (p.Ala404=)
c.1176A>T (p.Ala392=)
c.1173A>T (p.Ala391=)
c.603A>T (p.Ala201=)
n.1772-2555T>A
c.1128A>T (p.Ala376=)
c.636A>T (p.Ala212=)
2g.27364869T>CCA425410391EIF2B4,GTF3C2-AS2c.1221A>G (p.Ala407=)
c.*487A>G (n.*487A>G)
c.1218A>G (p.Ala406=)
c.1281A>G (p.Ala427=)
n.214A>G
c.1284A>G (p.Ala428=)
c.1212A>G (p.Ala404=)
c.1176A>G (p.Ala392=)
c.1173A>G (p.Ala391=)
c.603A>G (p.Ala201=)
n.1772-2555T>C
c.1128A>G (p.Ala376=)
c.636A>G (p.Ala212=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364869T>GCA425410392EIF2B4,GTF3C2-AS2c.1221A>C (p.Ala407=)
c.*487A>C (n.*487A>C)
c.1218A>C (p.Ala406=)
c.1281A>C (p.Ala427=)
n.214A>C
c.1284A>C (p.Ala428=)
c.1212A>C (p.Ala404=)
c.1176A>C (p.Ala392=)
c.1173A>C (p.Ala391=)
c.603A>C (p.Ala201=)
n.1772-2555T>G
c.1128A>C (p.Ala376=)
c.636A>C (p.Ala212=)
2g.27364869T=CA1240242954EIF2B4,GTF3C2-AS2c.1221A= (p.Ala407=)
c.*487A= (n.*487A=)
c.1218A= (p.Ala406=)
c.1281A= (p.Ala427=)
n.214A=
c.1284A= (p.Ala428=)
c.1212A= (p.Ala404=)
c.1176A= (p.Ala392=)
c.1173A= (p.Ala391=)
c.603A= (p.Ala201=)
n.1772-2555T=
c.1128A= (p.Ala376=)
c.636A= (p.Ala212=)
2g.27364870G>ACA346197293EIF2B4,GTF3C2-AS2c.1220C>T (p.Ala407Val)
c.*486C>T (n.*486C>T)
c.1217C>T (p.Ala406Val)
c.1280C>T (p.Ala427Val)
n.213C>T
c.1283C>T (p.Ala428Val)
c.1211C>T (p.Ala404Val)
c.1175C>T (p.Ala392Val)
c.1172C>T (p.Ala391Val)
c.602C>T (p.Ala201Val)
n.1772-2554G>A
c.1127C>T (p.Ala376Val)
c.635C>T (p.Ala212Val)
 dbSNP
2g.27364870G>CCA346197296EIF2B4,GTF3C2-AS2c.1220C>G (p.Ala407Gly)
c.*486C>G (n.*486C>G)
c.1217C>G (p.Ala406Gly)
c.1280C>G (p.Ala427Gly)
n.213C>G
c.1283C>G (p.Ala428Gly)
c.1211C>G (p.Ala404Gly)
c.1175C>G (p.Ala392Gly)
c.1172C>G (p.Ala391Gly)
c.602C>G (p.Ala201Gly)
n.1772-2554G>C
c.1127C>G (p.Ala376Gly)
c.635C>G (p.Ala212Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.27364870G=CA1240242955EIF2B4,GTF3C2-AS2c.1220C= (p.Ala407=)
c.*486C= (n.*486C=)
c.1217C= (p.Ala406=)
c.1280C= (p.Ala427=)
n.213C=
c.1283C= (p.Ala428=)
c.1211C= (p.Ala404=)
c.1175C= (p.Ala392=)
c.1172C= (p.Ala391=)
c.602C= (p.Ala201=)
n.1772-2554G=
c.1127C= (p.Ala376=)
c.635C= (p.Ala212=)
2g.27364870G>TCA346197295EIF2B4,GTF3C2-AS2c.1220C>A (p.Ala407Glu)
c.*486C>A (n.*486C>A)
c.1217C>A (p.Ala406Glu)
c.1280C>A (p.Ala427Glu)
n.213C>A
c.1283C>A (p.Ala428Glu)
c.1211C>A (p.Ala404Glu)
c.1175C>A (p.Ala392Glu)
c.1172C>A (p.Ala391Glu)
c.602C>A (p.Ala201Glu)
n.1772-2554G>T
c.1127C>A (p.Ala376Glu)
c.635C>A (p.Ala212Glu)
2g.27364871C>ACA346197297EIF2B4,GTF3C2-AS2c.1219G>T (p.Ala407Ser)
c.*485G>T (n.*485G>T)
c.1216G>T (p.Ala406Ser)
c.1279G>T (p.Ala427Ser)
n.212G>T
c.1282G>T (p.Ala428Ser)
c.1210G>T (p.Ala404Ser)
c.1174G>T (p.Ala392Ser)
c.1171G>T (p.Ala391Ser)
c.601G>T (p.Ala201Ser)
n.1772-2553C>A
c.1126G>T (p.Ala376Ser)
c.634G>T (p.Ala212Ser)
2g.27364871C>GCA346197298EIF2B4,GTF3C2-AS2c.1219G>C (p.Ala407Pro)
c.*485G>C (n.*485G>C)
c.1216G>C (p.Ala406Pro)
c.1279G>C (p.Ala427Pro)
n.212G>C
c.1282G>C (p.Ala428Pro)
c.1210G>C (p.Ala404Pro)
c.1174G>C (p.Ala392Pro)
c.1171G>C (p.Ala391Pro)
c.601G>C (p.Ala201Pro)
n.1772-2553C>G
c.1126G>C (p.Ala376Pro)
c.634G>C (p.Ala212Pro)
2g.27364871C>TCA346197300EIF2B4,GTF3C2-AS2c.1219G>A (p.Ala407Thr)
c.*485G>A (n.*485G>A)
c.1216G>A (p.Ala406Thr)
c.1279G>A (p.Ala427Thr)
n.212G>A
c.1282G>A (p.Ala428Thr)
c.1210G>A (p.Ala404Thr)
c.1174G>A (p.Ala392Thr)
c.1171G>A (p.Ala391Thr)
c.601G>A (p.Ala201Thr)
n.1772-2553C>T
c.1126G>A (p.Ala376Thr)
c.634G>A (p.Ala212Thr)
2g.27364872A=CA1240242956EIF2B4,GTF3C2-AS2c.1218T= (p.His406=)
c.*484T= (n.*484T=)
c.1215T= (p.His405=)
c.1278T= (p.His426=)
n.211T=
c.1281T= (p.His427=)
c.1209T= (p.His403=)
c.1173T= (p.His391=)
c.1170T= (p.His390=)
c.600T= (p.His200=)
n.1772-2552A=
c.1125T= (p.His375=)
c.633T= (p.His211=)
2g.27364872A>CCA346197302EIF2B4,GTF3C2-AS2c.1218T>G (p.His406Gln)
c.*484T>G (n.*484T>G)
c.1215T>G (p.His405Gln)
c.1278T>G (p.His426Gln)
n.211T>G
c.1281T>G (p.His427Gln)
c.1209T>G (p.His403Gln)
c.1173T>G (p.His391Gln)
c.1170T>G (p.His390Gln)
c.600T>G (p.His200Gln)
n.1772-2552A>C
c.1125T>G (p.His375Gln)
c.633T>G (p.His211Gln)
2g.27364872A>GCA1576616EIF2B4,GTF3C2-AS2c.1218T>C (p.His406=)
c.*484T>C (n.*484T>C)
c.1215T>C (p.His405=)
c.1278T>C (p.His426=)
n.211T>C
c.1281T>C (p.His427=)
c.1209T>C (p.His403=)
c.1173T>C (p.His391=)
c.1170T>C (p.His390=)
c.600T>C (p.His200=)
n.1772-2552A>G
c.1125T>C (p.His375=)
c.633T>C (p.His211=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364872A>TCA44509723EIF2B4,GTF3C2-AS2c.1218T>A (p.His406Gln)
c.*484T>A (n.*484T>A)
c.1215T>A (p.His405Gln)
c.1278T>A (p.His426Gln)
n.211T>A
c.1281T>A (p.His427Gln)
c.1209T>A (p.His403Gln)
c.1173T>A (p.His391Gln)
c.1170T>A (p.His390Gln)
c.600T>A (p.His200Gln)
n.1772-2552A>T
c.1125T>A (p.His375Gln)
c.633T>A (p.His211Gln)
 dbSNP gnomAD v4
2g.27364873T>ACA346197306EIF2B4,GTF3C2-AS2c.1217A>T (p.His406Leu)
c.*483A>T (n.*483A>T)
c.1214A>T (p.His405Leu)
c.1277A>T (p.His426Leu)
n.210A>T
c.1280A>T (p.His427Leu)
c.1208A>T (p.His403Leu)
c.1172A>T (p.His391Leu)
c.1169A>T (p.His390Leu)
c.599A>T (p.His200Leu)
n.1772-2551T>A
c.1124A>T (p.His375Leu)
c.632A>T (p.His211Leu)
2g.27364873T>CCA346197307EIF2B4,GTF3C2-AS2c.1217A>G (p.His406Arg)
c.*483A>G (n.*483A>G)
c.1214A>G (p.His405Arg)
c.1277A>G (p.His426Arg)
n.210A>G
c.1280A>G (p.His427Arg)
c.1208A>G (p.His403Arg)
c.1172A>G (p.His391Arg)
c.1169A>G (p.His390Arg)
c.599A>G (p.His200Arg)
n.1772-2551T>C
c.1124A>G (p.His375Arg)
c.632A>G (p.His211Arg)
 gnomAD v4
2g.27364873T>GCA346197309EIF2B4,GTF3C2-AS2c.1217A>C (p.His406Pro)
c.*483A>C (n.*483A>C)
c.1214A>C (p.His405Pro)
c.1277A>C (p.His426Pro)
n.210A>C
c.1280A>C (p.His427Pro)
c.1208A>C (p.His403Pro)
c.1172A>C (p.His391Pro)
c.1169A>C (p.His390Pro)
c.599A>C (p.His200Pro)
n.1772-2551T>G
c.1124A>C (p.His375Pro)
c.632A>C (p.His211Pro)
2g.27364874G>ACA346197310EIF2B4,GTF3C2-AS2c.1216C>T (p.His406Tyr)
c.*482C>T (n.*482C>T)
c.1213C>T (p.His405Tyr)
c.1276C>T (p.His426Tyr)
n.209C>T
c.1279C>T (p.His427Tyr)
c.1207C>T (p.His403Tyr)
c.1171C>T (p.His391Tyr)
c.1168C>T (p.His390Tyr)
c.598C>T (p.His200Tyr)
n.1772-2550G>A
c.1123C>T (p.His375Tyr)
c.631C>T (p.His211Tyr)
 gnomAD v4 COSMIC COSMIC
2g.27364874G>CCA346197312EIF2B4,GTF3C2-AS2c.1216C>G (p.His406Asp)
c.*482C>G (n.*482C>G)
c.1213C>G (p.His405Asp)
c.1276C>G (p.His426Asp)
n.209C>G
c.1279C>G (p.His427Asp)
c.1207C>G (p.His403Asp)
c.1171C>G (p.His391Asp)
c.1168C>G (p.His390Asp)
c.598C>G (p.His200Asp)
n.1772-2550G>C
c.1123C>G (p.His375Asp)
c.631C>G (p.His211Asp)
 gnomAD v4
2g.27364874G>TCA346197314EIF2B4,GTF3C2-AS2c.1216C>A (p.His406Asn)
c.*482C>A (n.*482C>A)
c.1213C>A (p.His405Asn)
c.1276C>A (p.His426Asn)
n.209C>A
c.1279C>A (p.His427Asn)
c.1207C>A (p.His403Asn)
c.1171C>A (p.His391Asn)
c.1168C>A (p.His390Asn)
c.598C>A (p.His200Asn)
n.1772-2550G>T
c.1123C>A (p.His375Asn)
c.631C>A (p.His211Asn)
 gnomAD v4
2g.27364875A>CCA425410400EIF2B4,GTF3C2-AS2c.1215T>G (p.Ala405=)
c.*481T>G (n.*481T>G)
c.1212T>G (p.Ala404=)
c.1275T>G (p.Ala425=)
n.208T>G
c.1278T>G (p.Ala426=)
c.1206T>G (p.Ala402=)
c.1170T>G (p.Ala390=)
c.1167T>G (p.Ala389=)
c.597T>G (p.Ala199=)
n.1772-2549A>C
c.1122T>G (p.Ala374=)
c.630T>G (p.Ala210=)
2g.27364875A>GCA425410402EIF2B4,GTF3C2-AS2c.1215T>C (p.Ala405=)
c.*481T>C (n.*481T>C)
c.1212T>C (p.Ala404=)
c.1275T>C (p.Ala425=)
n.208T>C
c.1278T>C (p.Ala426=)
c.1206T>C (p.Ala402=)
c.1170T>C (p.Ala390=)
c.1167T>C (p.Ala389=)
c.597T>C (p.Ala199=)
n.1772-2549A>G
c.1122T>C (p.Ala374=)
c.630T>C (p.Ala210=)
2g.27364875A>TCA425410403EIF2B4,GTF3C2-AS2c.1215T>A (p.Ala405=)
c.*481T>A (n.*481T>A)
c.1212T>A (p.Ala404=)
c.1275T>A (p.Ala425=)
n.208T>A
c.1278T>A (p.Ala426=)
c.1206T>A (p.Ala402=)
c.1170T>A (p.Ala390=)
c.1167T>A (p.Ala389=)
c.597T>A (p.Ala199=)
n.1772-2549A>T
c.1122T>A (p.Ala374=)
c.630T>A (p.Ala210=)
2g.27364876G>ACA346197319EIF2B4,GTF3C2-AS2c.1214C>T (p.Ala405Val)
c.*480C>T (n.*480C>T)
c.1211C>T (p.Ala404Val)
c.1274C>T (p.Ala425Val)
n.207C>T
c.1277C>T (p.Ala426Val)
c.1205C>T (p.Ala402Val)
c.1169C>T (p.Ala390Val)
c.1166C>T (p.Ala389Val)
c.596C>T (p.Ala199Val)
n.1772-2548G>A
c.1121C>T (p.Ala374Val)
c.629C>T (p.Ala210Val)
 gnomAD v4
2g.27364876G>CCA346197316EIF2B4,GTF3C2-AS2c.1214C>G (p.Ala405Gly)
c.*480C>G (n.*480C>G)
c.1211C>G (p.Ala404Gly)
c.1274C>G (p.Ala425Gly)
n.207C>G
c.1277C>G (p.Ala426Gly)
c.1205C>G (p.Ala402Gly)
c.1169C>G (p.Ala390Gly)
c.1166C>G (p.Ala389Gly)
c.596C>G (p.Ala199Gly)
n.1772-2548G>C
c.1121C>G (p.Ala374Gly)
c.629C>G (p.Ala210Gly)
2g.27364876G>TCA346197317EIF2B4,GTF3C2-AS2c.1214C>A (p.Ala405Asp)
c.*480C>A (n.*480C>A)
c.1211C>A (p.Ala404Asp)
c.1274C>A (p.Ala425Asp)
n.207C>A
c.1277C>A (p.Ala426Asp)
c.1205C>A (p.Ala402Asp)
c.1169C>A (p.Ala390Asp)
c.1166C>A (p.Ala389Asp)
c.596C>A (p.Ala199Asp)
n.1772-2548G>T
c.1121C>A (p.Ala374Asp)
c.629C>A (p.Ala210Asp)
2g.27364877C>ACA346197321EIF2B4,GTF3C2-AS2c.1213G>T (p.Ala405Ser)
c.*479G>T (n.*479G>T)
c.1210G>T (p.Ala404Ser)
c.1273G>T (p.Ala425Ser)
n.206G>T
c.1276G>T (p.Ala426Ser)
c.1204G>T (p.Ala402Ser)
c.1168G>T (p.Ala390Ser)
c.1165G>T (p.Ala389Ser)
c.595G>T (p.Ala199Ser)
n.1772-2547C>A
c.1120G>T (p.Ala374Ser)
c.628G>T (p.Ala210Ser)
2g.27364877C>GCA346197323EIF2B4,GTF3C2-AS2c.1213G>C (p.Ala405Pro)
c.*479G>C (n.*479G>C)
c.1210G>C (p.Ala404Pro)
c.1273G>C (p.Ala425Pro)
n.206G>C
c.1276G>C (p.Ala426Pro)
c.1204G>C (p.Ala402Pro)
c.1168G>C (p.Ala390Pro)
c.1165G>C (p.Ala389Pro)
c.595G>C (p.Ala199Pro)
n.1772-2547C>G
c.1120G>C (p.Ala374Pro)
c.628G>C (p.Ala210Pro)
2g.27364877C>TCA346197324EIF2B4,GTF3C2-AS2c.1213G>A (p.Ala405Thr)
c.*479G>A (n.*479G>A)
c.1210G>A (p.Ala404Thr)
c.1273G>A (p.Ala425Thr)
n.206G>A
c.1276G>A (p.Ala426Thr)
c.1204G>A (p.Ala402Thr)
c.1168G>A (p.Ala390Thr)
c.1165G>A (p.Ala389Thr)
c.595G>A (p.Ala199Thr)
n.1772-2547C>T
c.1120G>A (p.Ala374Thr)
c.628G>A (p.Ala210Thr)
 gnomAD v4
2g.27364878T>ACA425410411EIF2B4,GTF3C2-AS2c.1212A>T (p.Gly404=)
c.*478A>T (n.*478A>T)
c.1209A>T (p.Gly403=)
c.1272A>T (p.Gly424=)
n.205A>T
c.1275A>T (p.Gly425=)
c.1203A>T (p.Gly401=)
c.1167A>T (p.Gly389=)
c.1164A>T (p.Gly388=)
c.594A>T (p.Gly198=)
n.1772-2546T>A
c.1119A>T (p.Gly373=)
c.627A>T (p.Gly209=)
2g.27364878T>CCA425410413EIF2B4,GTF3C2-AS2c.1212A>G (p.Gly404=)
c.*478A>G (n.*478A>G)
c.1209A>G (p.Gly403=)
c.1272A>G (p.Gly424=)
n.205A>G
c.1275A>G (p.Gly425=)
c.1203A>G (p.Gly401=)
c.1167A>G (p.Gly389=)
c.1164A>G (p.Gly388=)
c.594A>G (p.Gly198=)
n.1772-2546T>C
c.1119A>G (p.Gly373=)
c.627A>G (p.Gly209=)
2g.27364878T>GCA425410415EIF2B4,GTF3C2-AS2c.1212A>C (p.Gly404=)
c.*478A>C (n.*478A>C)
c.1209A>C (p.Gly403=)
c.1272A>C (p.Gly424=)
n.205A>C
c.1275A>C (p.Gly425=)
c.1203A>C (p.Gly401=)
c.1167A>C (p.Gly389=)
c.1164A>C (p.Gly388=)
c.594A>C (p.Gly198=)
n.1772-2546T>G
c.1119A>C (p.Gly373=)
c.627A>C (p.Gly209=)
2g.27364879C>ACA346197326EIF2B4,GTF3C2-AS2c.1211G>T (p.Gly404Val)
c.*477G>T (n.*477G>T)
c.1208G>T (p.Gly403Val)
c.1271G>T (p.Gly424Val)
n.204G>T
c.1274G>T (p.Gly425Val)
c.1202G>T (p.Gly401Val)
c.1166G>T (p.Gly389Val)
c.1163G>T (p.Gly388Val)
c.593G>T (p.Gly198Val)
n.1772-2545C>A
c.1118G>T (p.Gly373Val)
c.626G>T (p.Gly209Val)
2g.27364879C>GCA346197327EIF2B4,GTF3C2-AS2c.1211G>C (p.Gly404Ala)
c.*477G>C (n.*477G>C)
c.1208G>C (p.Gly403Ala)
c.1271G>C (p.Gly424Ala)
n.204G>C
c.1274G>C (p.Gly425Ala)
c.1202G>C (p.Gly401Ala)
c.1166G>C (p.Gly389Ala)
c.1163G>C (p.Gly388Ala)
c.593G>C (p.Gly198Ala)
n.1772-2545C>G
c.1118G>C (p.Gly373Ala)
c.626G>C (p.Gly209Ala)
2g.27364879C>TCA346197329EIF2B4,GTF3C2-AS2c.1211G>A (p.Gly404Glu)
c.*477G>A (n.*477G>A)
c.1208G>A (p.Gly403Glu)
c.1271G>A (p.Gly424Glu)
n.204G>A
c.1274G>A (p.Gly425Glu)
c.1202G>A (p.Gly401Glu)
c.1166G>A (p.Gly389Glu)
c.1163G>A (p.Gly388Glu)
c.593G>A (p.Gly198Glu)
n.1772-2545C>T
c.1118G>A (p.Gly373Glu)
c.626G>A (p.Gly209Glu)
2g.27364880C>ACA346197335EIF2B4,GTF3C2-AS2c.1210G>T (p.Gly404Ter)
c.*476G>T (n.*476G>T)
c.1207G>T (p.Gly403Ter)
c.1270G>T (p.Gly424Ter)
n.203G>T
c.1273G>T (p.Gly425Ter)
c.1201G>T (p.Gly401Ter)
c.1165G>T (p.Gly389Ter)
c.1162G>T (p.Gly388Ter)
c.592G>T (p.Gly198Ter)
n.1772-2544C>A
c.1117G>T (p.Gly373Ter)
c.625G>T (p.Gly209Ter)
2g.27364880C>GCA346197336EIF2B4,GTF3C2-AS2c.1210G>C (p.Gly404Arg)
c.*476G>C (n.*476G>C)
c.1207G>C (p.Gly403Arg)
c.1270G>C (p.Gly424Arg)
n.203G>C
c.1273G>C (p.Gly425Arg)
c.1201G>C (p.Gly401Arg)
c.1165G>C (p.Gly389Arg)
c.1162G>C (p.Gly388Arg)
c.592G>C (p.Gly198Arg)
n.1772-2544C>G
c.1117G>C (p.Gly373Arg)
c.625G>C (p.Gly209Arg)
2g.27364880C>TCA346197338EIF2B4,GTF3C2-AS2c.1210G>A (p.Gly404Arg)
c.*476G>A (n.*476G>A)
c.1207G>A (p.Gly403Arg)
c.1270G>A (p.Gly424Arg)
n.203G>A
c.1273G>A (p.Gly425Arg)
c.1201G>A (p.Gly401Arg)
c.1165G>A (p.Gly389Arg)
c.1162G>A (p.Gly388Arg)
c.592G>A (p.Gly198Arg)
n.1772-2544C>T
c.1117G>A (p.Gly373Arg)
c.625G>A (p.Gly209Arg)
2g.27364881C>ACA346197341EIF2B4,GTF3C2-AS2c.1209G>T (p.Leu403Phe)
c.*475G>T (n.*475G>T)
c.1206G>T (p.Leu402Phe)
c.1269G>T (p.Leu423Phe)
n.202G>T
c.1272G>T (p.Leu424Phe)
c.1200G>T (p.Leu400Phe)
c.1164G>T (p.Leu388Phe)
c.1161G>T (p.Leu387Phe)
c.591G>T (p.Leu197Phe)
n.1772-2543C>A
c.1116G>T (p.Leu372Phe)
c.624G>T (p.Leu208Phe)
2g.27364881C>GCA346197342EIF2B4,GTF3C2-AS2c.1209G>C (p.Leu403Phe)
c.*475G>C (n.*475G>C)
c.1206G>C (p.Leu402Phe)
c.1269G>C (p.Leu423Phe)
n.202G>C
c.1272G>C (p.Leu424Phe)
c.1200G>C (p.Leu400Phe)
c.1164G>C (p.Leu388Phe)
c.1161G>C (p.Leu387Phe)
c.591G>C (p.Leu197Phe)
n.1772-2543C>G
c.1116G>C (p.Leu372Phe)
c.624G>C (p.Leu208Phe)
2g.27364881C>TCA425410417EIF2B4,GTF3C2-AS2c.1209G>A (p.Leu403=)
c.*475G>A (n.*475G>A)
c.1206G>A (p.Leu402=)
c.1269G>A (p.Leu423=)
n.202G>A
c.1272G>A (p.Leu424=)
c.1200G>A (p.Leu400=)
c.1164G>A (p.Leu388=)
c.1161G>A (p.Leu387=)
c.591G>A (p.Leu197=)
n.1772-2543C>T
c.1116G>A (p.Leu372=)
c.624G>A (p.Leu208=)
 dbSNP gnomAD v3 gnomAD v4
2g.27364882A>CCA346197350EIF2B4,GTF3C2-AS2c.1208T>G (p.Leu403Trp)
c.*474T>G (n.*474T>G)
c.1205T>G (p.Leu402Trp)
c.1268T>G (p.Leu423Trp)
n.201T>G
c.1271T>G (p.Leu424Trp)
c.1199T>G (p.Leu400Trp)
c.1163T>G (p.Leu388Trp)
c.1160T>G (p.Leu387Trp)
c.590T>G (p.Leu197Trp)
n.1772-2542A>C
c.1115T>G (p.Leu372Trp)
c.623T>G (p.Leu208Trp)
2g.27364882A>GCA346197347EIF2B4,GTF3C2-AS2c.1208T>C (p.Leu403Ser)
c.*474T>C (n.*474T>C)
c.1205T>C (p.Leu402Ser)
c.1268T>C (p.Leu423Ser)
n.201T>C
c.1271T>C (p.Leu424Ser)
c.1199T>C (p.Leu400Ser)
c.1163T>C (p.Leu388Ser)
c.1160T>C (p.Leu387Ser)
c.590T>C (p.Leu197Ser)
n.1772-2542A>G
c.1115T>C (p.Leu372Ser)
c.623T>C (p.Leu208Ser)
2g.27364882A>TCA346197344EIF2B4,GTF3C2-AS2c.1208T>A (p.Leu403Ter)
c.*474T>A (n.*474T>A)
c.1205T>A (p.Leu402Ter)
c.1268T>A (p.Leu423Ter)
n.201T>A
c.1271T>A (p.Leu424Ter)
c.1199T>A (p.Leu400Ter)
c.1163T>A (p.Leu388Ter)
c.1160T>A (p.Leu387Ter)
c.590T>A (p.Leu197Ter)
n.1772-2542A>T
c.1115T>A (p.Leu372Ter)
c.623T>A (p.Leu208Ter)
2g.27364883A=CA1240242957EIF2B4,GTF3C2-AS2c.1207T= (p.Leu403=)
c.*473T= (n.*473T=)
c.1204T= (p.Leu402=)
c.1267T= (p.Leu423=)
n.200T=
c.1270T= (p.Leu424=)
c.1198T= (p.Leu400=)
c.1162T= (p.Leu388=)
c.1159T= (p.Leu387=)
c.589T= (p.Leu197=)
n.1772-2541A=
c.1114T= (p.Leu372=)
c.622T= (p.Leu208=)
2g.27364883A>CCA346197352EIF2B4,GTF3C2-AS2c.1207T>G (p.Leu403Val)
c.*473T>G (n.*473T>G)
c.1204T>G (p.Leu402Val)
c.1267T>G (p.Leu423Val)
n.200T>G
c.1270T>G (p.Leu424Val)
c.1198T>G (p.Leu400Val)
c.1162T>G (p.Leu388Val)
c.1159T>G (p.Leu387Val)
c.589T>G (p.Leu197Val)
n.1772-2541A>C
c.1114T>G (p.Leu372Val)
c.622T>G (p.Leu208Val)
2g.27364883A>GCA425410421EIF2B4,GTF3C2-AS2c.1207T>C (p.Leu403=)
c.*473T>C (n.*473T>C)
c.1204T>C (p.Leu402=)
c.1267T>C (p.Leu423=)
n.200T>C
c.1270T>C (p.Leu424=)
c.1198T>C (p.Leu400=)
c.1162T>C (p.Leu388=)
c.1159T>C (p.Leu387=)
c.589T>C (p.Leu197=)
n.1772-2541A>G
c.1114T>C (p.Leu372=)
c.622T>C (p.Leu208=)
 ClinVar dbSNP gnomAD v4
2g.27364883A>TCA346197353EIF2B4,GTF3C2-AS2c.1207T>A (p.Leu403Met)
c.*473T>A (n.*473T>A)
c.1204T>A (p.Leu402Met)
c.1267T>A (p.Leu423Met)
n.200T>A
c.1270T>A (p.Leu424Met)
c.1198T>A (p.Leu400Met)
c.1162T>A (p.Leu388Met)
c.1159T>A (p.Leu387Met)
c.589T>A (p.Leu197Met)
n.1772-2541A>T
c.1114T>A (p.Leu372Met)
c.622T>A (p.Leu208Met)
2g.27364884T>ACA425410424EIF2B4,GTF3C2-AS2c.1206A>T (p.Leu402=)
c.*472A>T (n.*472A>T)
c.1203A>T (p.Leu401=)
c.1266A>T (p.Leu422=)
n.199A>T
c.1269A>T (p.Leu423=)
c.1197A>T (p.Leu399=)
c.1161A>T (p.Leu387=)
c.1158A>T (p.Leu386=)
c.588A>T (p.Leu196=)
n.1772-2540T>A
c.1113A>T (p.Leu371=)
c.621A>T (p.Leu207=)
 dbSNP gnomAD v2 gnomAD v4
2g.27364884T>CCA425410426EIF2B4,GTF3C2-AS2c.1206A>G (p.Leu402=)
c.*472A>G (n.*472A>G)
c.1203A>G (p.Leu401=)
c.1266A>G (p.Leu422=)
n.199A>G
c.1269A>G (p.Leu423=)
c.1197A>G (p.Leu399=)
c.1161A>G (p.Leu387=)
c.1158A>G (p.Leu386=)
c.588A>G (p.Leu196=)
n.1772-2540T>C
c.1113A>G (p.Leu371=)
c.621A>G (p.Leu207=)
 ClinVar
2g.27364884T>GCA425410429EIF2B4,GTF3C2-AS2c.1206A>C (p.Leu402=)
c.*472A>C (n.*472A>C)
c.1203A>C (p.Leu401=)
c.1266A>C (p.Leu422=)
n.199A>C
c.1269A>C (p.Leu423=)
c.1197A>C (p.Leu399=)
c.1161A>C (p.Leu387=)
c.1158A>C (p.Leu386=)
c.588A>C (p.Leu196=)
n.1772-2540T>G
c.1113A>C (p.Leu371=)
c.621A>C (p.Leu207=)
2g.27364884T=CA1240242958EIF2B4,GTF3C2-AS2c.1206A= (p.Leu402=)
c.*472A= (n.*472A=)
c.1203A= (p.Leu401=)
c.1266A= (p.Leu422=)
n.199A=
c.1269A= (p.Leu423=)
c.1197A= (p.Leu399=)
c.1161A= (p.Leu387=)
c.1158A= (p.Leu386=)
c.588A= (p.Leu196=)
n.1772-2540T=
c.1113A= (p.Leu371=)
c.621A= (p.Leu207=)
2g.27364885A>CCA346197354EIF2B4,GTF3C2-AS2c.1205T>G (p.Leu402Arg)
c.*471T>G (n.*471T>G)
c.1202T>G (p.Leu401Arg)
c.1265T>G (p.Leu422Arg)
n.198T>G
c.1268T>G (p.Leu423Arg)
c.1196T>G (p.Leu399Arg)
c.1160T>G (p.Leu387Arg)
c.1157T>G (p.Leu386Arg)
c.587T>G (p.Leu196Arg)
n.1772-2539A>C
c.1112T>G (p.Leu371Arg)
c.620T>G (p.Leu207Arg)
2g.27364885A>GCA346197356EIF2B4,GTF3C2-AS2c.1205T>C (p.Leu402Pro)
c.*471T>C (n.*471T>C)
c.1202T>C (p.Leu401Pro)
c.1265T>C (p.Leu422Pro)
n.198T>C
c.1268T>C (p.Leu423Pro)
c.1196T>C (p.Leu399Pro)
c.1160T>C (p.Leu387Pro)
c.1157T>C (p.Leu386Pro)
c.587T>C (p.Leu196Pro)
n.1772-2539A>G
c.1112T>C (p.Leu371Pro)
c.620T>C (p.Leu207Pro)
2g.27364885A>TCA346197358EIF2B4,GTF3C2-AS2c.1205T>A (p.Leu402Gln)
c.*471T>A (n.*471T>A)
c.1202T>A (p.Leu401Gln)
c.1265T>A (p.Leu422Gln)
n.198T>A
c.1268T>A (p.Leu423Gln)
c.1196T>A (p.Leu399Gln)
c.1160T>A (p.Leu387Gln)
c.1157T>A (p.Leu386Gln)
c.587T>A (p.Leu196Gln)
n.1772-2539A>T
c.1112T>A (p.Leu371Gln)
c.620T>A (p.Leu207Gln)
2g.27364886G>ACA1576617EIF2B4,GTF3C2-AS2c.1204C>T (p.Leu402=)
c.*470C>T (n.*470C>T)
c.1201C>T (p.Leu401=)
c.1264C>T (p.Leu422=)
n.197C>T
c.1267C>T (p.Leu423=)
c.1195C>T (p.Leu399=)
c.1159C>T (p.Leu387=)
c.1156C>T (p.Leu386=)
c.586C>T (p.Leu196=)
n.1772-2538G>A
c.1111C>T (p.Leu371=)
c.619C>T (p.Leu207=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364886G>CCA346197361EIF2B4,GTF3C2-AS2c.1204C>G (p.Leu402Val)
c.*470C>G (n.*470C>G)
c.1201C>G (p.Leu401Val)
c.1264C>G (p.Leu422Val)
n.197C>G
c.1267C>G (p.Leu423Val)
c.1195C>G (p.Leu399Val)
c.1159C>G (p.Leu387Val)
c.1156C>G (p.Leu386Val)
c.586C>G (p.Leu196Val)
n.1772-2538G>C
c.1111C>G (p.Leu371Val)
c.619C>G (p.Leu207Val)
 gnomAD v4
2g.27364886G=CA1240242959EIF2B4,GTF3C2-AS2c.1204C= (p.Leu402=)
c.*470C= (n.*470C=)
c.1201C= (p.Leu401=)
c.1264C= (p.Leu422=)
n.197C=
c.1267C= (p.Leu423=)
c.1195C= (p.Leu399=)
c.1159C= (p.Leu387=)
c.1156C= (p.Leu386=)
c.586C= (p.Leu196=)
n.1772-2538G=
c.1111C= (p.Leu371=)
c.619C= (p.Leu207=)
2g.27364886G>TCA346197363EIF2B4,GTF3C2-AS2c.1204C>A (p.Leu402Ile)
c.*470C>A (n.*470C>A)
c.1201C>A (p.Leu401Ile)
c.1264C>A (p.Leu422Ile)
n.197C>A
c.1267C>A (p.Leu423Ile)
c.1195C>A (p.Leu399Ile)
c.1159C>A (p.Leu387Ile)
c.1156C>A (p.Leu386Ile)
c.586C>A (p.Leu196Ile)
n.1772-2538G>T
c.1111C>A (p.Leu371Ile)
c.619C>A (p.Leu207Ile)
2g.27364887C>ACA425410432EIF2B4,GTF3C2-AS2c.1203G>T (p.Val401=)
c.*469G>T (n.*469G>T)
c.1200G>T (p.Val400=)
c.1263G>T (p.Val421=)
n.196G>T
c.1266G>T (p.Val422=)
c.1194G>T (p.Val398=)
c.1158G>T (p.Val386=)
c.1155G>T (p.Val385=)
c.585G>T (p.Val195=)
n.1772-2537C>A
c.1110G>T (p.Val370=)
c.618G>T (p.Val206=)
2g.27364887C>GCA425410433EIF2B4,GTF3C2-AS2c.1203G>C (p.Val401=)
c.*469G>C (n.*469G>C)
c.1200G>C (p.Val400=)
c.1263G>C (p.Val421=)
n.196G>C
c.1266G>C (p.Val422=)
c.1194G>C (p.Val398=)
c.1158G>C (p.Val386=)
c.1155G>C (p.Val385=)
c.585G>C (p.Val195=)
n.1772-2537C>G
c.1110G>C (p.Val370=)
c.618G>C (p.Val206=)
2g.27364887C>TCA425410434EIF2B4,GTF3C2-AS2c.1203G>A (p.Val401=)
c.*469G>A (n.*469G>A)
c.1200G>A (p.Val400=)
c.1263G>A (p.Val421=)
n.196G>A
c.1266G>A (p.Val422=)
c.1194G>A (p.Val398=)
c.1158G>A (p.Val386=)
c.1155G>A (p.Val385=)
c.585G>A (p.Val195=)
n.1772-2537C>T
c.1110G>A (p.Val370=)
c.618G>A (p.Val206=)
2g.27364888A>CCA346197365EIF2B4,GTF3C2-AS2c.1202T>G (p.Val401Gly)
c.*468T>G (n.*468T>G)
c.1199T>G (p.Val400Gly)
c.1262T>G (p.Val421Gly)
n.195T>G
c.1265T>G (p.Val422Gly)
c.1193T>G (p.Val398Gly)
c.1157T>G (p.Val386Gly)
c.1154T>G (p.Val385Gly)
c.584T>G (p.Val195Gly)
n.1772-2536A>C
c.1109T>G (p.Val370Gly)
c.617T>G (p.Val206Gly)
2g.27364888A>GCA346197367EIF2B4,GTF3C2-AS2c.1202T>C (p.Val401Ala)
c.*468T>C (n.*468T>C)
c.1199T>C (p.Val400Ala)
c.1262T>C (p.Val421Ala)
n.195T>C
c.1265T>C (p.Val422Ala)
c.1193T>C (p.Val398Ala)
c.1157T>C (p.Val386Ala)
c.1154T>C (p.Val385Ala)
c.584T>C (p.Val195Ala)
n.1772-2536A>G
c.1109T>C (p.Val370Ala)
c.617T>C (p.Val206Ala)
2g.27364888A>TCA346197368EIF2B4,GTF3C2-AS2c.1202T>A (p.Val401Glu)
c.*468T>A (n.*468T>A)
c.1199T>A (p.Val400Glu)
c.1262T>A (p.Val421Glu)
n.195T>A
c.1265T>A (p.Val422Glu)
c.1193T>A (p.Val398Glu)
c.1157T>A (p.Val386Glu)
c.1154T>A (p.Val385Glu)
c.584T>A (p.Val195Glu)
n.1772-2536A>T
c.1109T>A (p.Val370Glu)
c.617T>A (p.Val206Glu)
2g.27364889C>ACA346197370EIF2B4,GTF3C2-AS2c.1201G>T (p.Val401Leu)
c.*467G>T (n.*467G>T)
c.1198G>T (p.Val400Leu)
c.1261G>T (p.Val421Leu)
n.194G>T
c.1264G>T (p.Val422Leu)
c.1192G>T (p.Val398Leu)
c.1156G>T (p.Val386Leu)
c.1153G>T (p.Val385Leu)
c.583G>T (p.Val195Leu)
n.1772-2535C>A
c.1108G>T (p.Val370Leu)
c.616G>T (p.Val206Leu)
2g.27364889C=CA1240242960EIF2B4,GTF3C2-AS2c.1201G= (p.Val401=)
c.*467G= (n.*467G=)
c.1198G= (p.Val400=)
c.1261G= (p.Val421=)
n.194G=
c.1264G= (p.Val422=)
c.1192G= (p.Val398=)
c.1156G= (p.Val386=)
c.1153G= (p.Val385=)
c.583G= (p.Val195=)
n.1772-2535C=
c.1108G= (p.Val370=)
c.616G= (p.Val206=)
2g.27364889C>GCA346197371EIF2B4,GTF3C2-AS2c.1201G>C (p.Val401Leu)
c.*467G>C (n.*467G>C)
c.1198G>C (p.Val400Leu)
c.1261G>C (p.Val421Leu)
n.194G>C
c.1264G>C (p.Val422Leu)
c.1192G>C (p.Val398Leu)
c.1156G>C (p.Val386Leu)
c.1153G>C (p.Val385Leu)
c.583G>C (p.Val195Leu)
n.1772-2535C>G
c.1108G>C (p.Val370Leu)
c.616G>C (p.Val206Leu)
 gnomAD v4
2g.27364889C>TCA1576618EIF2B4,GTF3C2-AS2c.1201G>A (p.Val401Met)
c.*467G>A (n.*467G>A)
c.1198G>A (p.Val400Met)
c.1261G>A (p.Val421Met)
n.194G>A
c.1264G>A (p.Val422Met)
c.1192G>A (p.Val398Met)
c.1156G>A (p.Val386Met)
c.1153G>A (p.Val385Met)
c.583G>A (p.Val195Met)
n.1772-2535C>T
c.1108G>A (p.Val370Met)
c.616G>A (p.Val206Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364890C>ACA346197376EIF2B4,GTF3C2-AS2c.1200G>T (p.Lys400Asn)
c.*466G>T (n.*466G>T)
c.1197G>T (p.Lys399Asn)
c.1260G>T (p.Lys420Asn)
n.193G>T
c.1263G>T (p.Lys421Asn)
c.1191G>T (p.Lys397Asn)
c.1155G>T (p.Lys385Asn)
c.1152G>T (p.Lys384Asn)
c.582G>T (p.Lys194Asn)
n.1772-2534C>A
c.1107G>T (p.Lys369Asn)
c.615G>T (p.Lys205Asn)
2g.27364890C>GCA346197378EIF2B4,GTF3C2-AS2c.1200G>C (p.Lys400Asn)
c.*466G>C (n.*466G>C)
c.1197G>C (p.Lys399Asn)
c.1260G>C (p.Lys420Asn)
n.193G>C
c.1263G>C (p.Lys421Asn)
c.1191G>C (p.Lys397Asn)
c.1155G>C (p.Lys385Asn)
c.1152G>C (p.Lys384Asn)
c.582G>C (p.Lys194Asn)
n.1772-2534C>G
c.1107G>C (p.Lys369Asn)
c.615G>C (p.Lys205Asn)
2g.27364890C>TCA425410438EIF2B4,GTF3C2-AS2c.1200G>A (p.Lys400=)
c.*466G>A (n.*466G>A)
c.1197G>A (p.Lys399=)
c.1260G>A (p.Lys420=)
n.193G>A
c.1263G>A (p.Lys421=)
c.1191G>A (p.Lys397=)
c.1155G>A (p.Lys385=)
c.1152G>A (p.Lys384=)
c.582G>A (p.Lys194=)
n.1772-2534C>T
c.1107G>A (p.Lys369=)
c.615G>A (p.Lys205=)
 COSMIC COSMIC
2g.27364891T>ACA346197380EIF2B4,GTF3C2-AS2c.1199A>T (p.Lys400Met)
c.*465A>T (n.*465A>T)
c.1196A>T (p.Lys399Met)
c.1259A>T (p.Lys420Met)
n.192A>T
c.1262A>T (p.Lys421Met)
c.1190A>T (p.Lys397Met)
c.1154A>T (p.Lys385Met)
c.1151A>T (p.Lys384Met)
c.581A>T (p.Lys194Met)
n.1772-2533T>A
c.1106A>T (p.Lys369Met)
c.614A>T (p.Lys205Met)
2g.27364891T>CCA1576619EIF2B4,GTF3C2-AS2c.1199A>G (p.Lys400Arg)
c.*465A>G (n.*465A>G)
c.1196A>G (p.Lys399Arg)
c.1259A>G (p.Lys420Arg)
n.192A>G
c.1262A>G (p.Lys421Arg)
c.1190A>G (p.Lys397Arg)
c.1154A>G (p.Lys385Arg)
c.1151A>G (p.Lys384Arg)
c.581A>G (p.Lys194Arg)
n.1772-2533T>C
c.1106A>G (p.Lys369Arg)
c.614A>G (p.Lys205Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364891T>GCA346197383EIF2B4,GTF3C2-AS2c.1199A>C (p.Lys400Thr)
c.*465A>C (n.*465A>C)
c.1196A>C (p.Lys399Thr)
c.1259A>C (p.Lys420Thr)
n.192A>C
c.1262A>C (p.Lys421Thr)
c.1190A>C (p.Lys397Thr)
c.1154A>C (p.Lys385Thr)
c.1151A>C (p.Lys384Thr)
c.581A>C (p.Lys194Thr)
n.1772-2533T>G
c.1106A>C (p.Lys369Thr)
c.614A>C (p.Lys205Thr)
2g.27364891T=CA1240242961EIF2B4,GTF3C2-AS2c.1199A= (p.Lys400=)
c.*465A= (n.*465A=)
c.1196A= (p.Lys399=)
c.1259A= (p.Lys420=)
n.192A=
c.1262A= (p.Lys421=)
c.1190A= (p.Lys397=)
c.1154A= (p.Lys385=)
c.1151A= (p.Lys384=)
c.581A= (p.Lys194=)
n.1772-2533T=
c.1106A= (p.Lys369=)
c.614A= (p.Lys205=)
2g.27364892T>ACA346197384EIF2B4,GTF3C2-AS2c.1198A>T (p.Lys400Ter)
c.*464A>T (n.*464A>T)
c.1195A>T (p.Lys399Ter)
c.1258A>T (p.Lys420Ter)
n.191A>T
c.1261A>T (p.Lys421Ter)
c.1189A>T (p.Lys397Ter)
c.1153A>T (p.Lys385Ter)
c.1150A>T (p.Lys384Ter)
c.580A>T (p.Lys194Ter)
n.1772-2532T>A
c.1105A>T (p.Lys369Ter)
c.613A>T (p.Lys205Ter)
2g.27364892T>CCA346197385EIF2B4,GTF3C2-AS2c.1198A>G (p.Lys400Glu)
c.*464A>G (n.*464A>G)
c.1195A>G (p.Lys399Glu)
c.1258A>G (p.Lys420Glu)
n.191A>G
c.1261A>G (p.Lys421Glu)
c.1189A>G (p.Lys397Glu)
c.1153A>G (p.Lys385Glu)
c.1150A>G (p.Lys384Glu)
c.580A>G (p.Lys194Glu)
n.1772-2532T>C
c.1105A>G (p.Lys369Glu)
c.613A>G (p.Lys205Glu)
2g.27364892T>GCA346197387EIF2B4,GTF3C2-AS2c.1198A>C (p.Lys400Gln)
c.*464A>C (n.*464A>C)
c.1195A>C (p.Lys399Gln)
c.1258A>C (p.Lys420Gln)
n.191A>C
c.1261A>C (p.Lys421Gln)
c.1189A>C (p.Lys397Gln)
c.1153A>C (p.Lys385Gln)
c.1150A>C (p.Lys384Gln)
c.580A>C (p.Lys194Gln)
n.1772-2532T>G
c.1105A>C (p.Lys369Gln)
c.613A>C (p.Lys205Gln)
2g.27364893G>ACA425410443EIF2B4,GTF3C2-AS2c.1197C>T (p.Ser399=)
c.*463C>T (n.*463C>T)
c.1194C>T (p.Ser398=)
c.1257C>T (p.Ser419=)
n.190C>T
c.1260C>T (p.Ser420=)
c.1188C>T (p.Ser396=)
c.1152C>T (p.Ser384=)
c.1149C>T (p.Ser383=)
c.579C>T (p.Ser193=)
n.1772-2531G>A
c.1104C>T (p.Ser368=)
c.612C>T (p.Ser204=)
2g.27364893G>CCA425410444EIF2B4,GTF3C2-AS2c.1197C>G (p.Ser399=)
c.*463C>G (n.*463C>G)
c.1194C>G (p.Ser398=)
c.1257C>G (p.Ser419=)
n.190C>G
c.1260C>G (p.Ser420=)
c.1188C>G (p.Ser396=)
c.1152C>G (p.Ser384=)
c.1149C>G (p.Ser383=)
c.579C>G (p.Ser193=)
n.1772-2531G>C
c.1104C>G (p.Ser368=)
c.612C>G (p.Ser204=)
2g.27364893G>TCA425410446EIF2B4,GTF3C2-AS2c.1197C>A (p.Ser399=)
c.*463C>A (n.*463C>A)
c.1194C>A (p.Ser398=)
c.1257C>A (p.Ser419=)
n.190C>A
c.1260C>A (p.Ser420=)
c.1188C>A (p.Ser396=)
c.1152C>A (p.Ser384=)
c.1149C>A (p.Ser383=)
c.579C>A (p.Ser193=)
n.1772-2531G>T
c.1104C>A (p.Ser368=)
c.612C>A (p.Ser204=)
2g.27364894delCA2699012260EIF2B4,GTF3C2-AS2c.1197del (p.Lys400ArgfsTer15)
c.*463del (n.*463del)
c.1194del (p.Lys399ArgfsTer15)
c.1257del (p.Lys420ArgfsTer15)
n.190del
c.1260del (p.Lys421ArgfsTer15)
c.1188del (p.Lys397ArgfsTer15)
c.1152del (p.Lys385ArgfsTer15)
c.1149del (p.Lys384ArgfsTer15)
c.579del (p.Lys194ArgfsTer15)
n.1772-2530del
c.1104del (p.Lys369ArgfsTer15)
c.612del (p.Lys205ArgfsTer15)
 dbSNP
2g.27364894G>ACA1576620EIF2B4,GTF3C2-AS2c.1196C>T (p.Ser399Phe)
c.*462C>T (n.*462C>T)
c.1193C>T (p.Ser398Phe)
c.1256C>T (p.Ser419Phe)
n.189C>T
c.1259C>T (p.Ser420Phe)
c.1187C>T (p.Ser396Phe)
c.1151C>T (p.Ser384Phe)
c.1148C>T (p.Ser383Phe)
c.578C>T (p.Ser193Phe)
n.1772-2530G>A
c.1103C>T (p.Ser368Phe)
c.611C>T (p.Ser204Phe)
 dbSNP ExAC gnomAD v2
2g.27364894G>CCA346197393EIF2B4,GTF3C2-AS2c.1196C>G (p.Ser399Cys)
c.*462C>G (n.*462C>G)
c.1193C>G (p.Ser398Cys)
c.1256C>G (p.Ser419Cys)
n.189C>G
c.1259C>G (p.Ser420Cys)
c.1187C>G (p.Ser396Cys)
c.1151C>G (p.Ser384Cys)
c.1148C>G (p.Ser383Cys)
c.578C>G (p.Ser193Cys)
n.1772-2530G>C
c.1103C>G (p.Ser368Cys)
c.611C>G (p.Ser204Cys)
 dbSNP
2g.27364894G=CA1240242962EIF2B4,GTF3C2-AS2c.1196C= (p.Ser399=)
c.*462C= (n.*462C=)
c.1193C= (p.Ser398=)
c.1256C= (p.Ser419=)
n.189C=
c.1259C= (p.Ser420=)
c.1187C= (p.Ser396=)
c.1151C= (p.Ser384=)
c.1148C= (p.Ser383=)
c.578C= (p.Ser193=)
n.1772-2530G=
c.1103C= (p.Ser368=)
c.611C= (p.Ser204=)
2g.27364894G>TCA346197396EIF2B4,GTF3C2-AS2c.1196C>A (p.Ser399Tyr)
c.*462C>A (n.*462C>A)
c.1193C>A (p.Ser398Tyr)
c.1256C>A (p.Ser419Tyr)
n.189C>A
c.1259C>A (p.Ser420Tyr)
c.1187C>A (p.Ser396Tyr)
c.1151C>A (p.Ser384Tyr)
c.1148C>A (p.Ser383Tyr)
c.578C>A (p.Ser193Tyr)
n.1772-2530G>T
c.1103C>A (p.Ser368Tyr)
c.611C>A (p.Ser204Tyr)
2g.27364895A>CCA346197398EIF2B4,GTF3C2-AS2c.1195T>G (p.Ser399Ala)
c.*461T>G (n.*461T>G)
c.1192T>G (p.Ser398Ala)
c.1255T>G (p.Ser419Ala)
n.188T>G
c.1258T>G (p.Ser420Ala)
c.1186T>G (p.Ser396Ala)
c.1150T>G (p.Ser384Ala)
c.1147T>G (p.Ser383Ala)
c.577T>G (p.Ser193Ala)
n.1772-2529A>C
c.1102T>G (p.Ser368Ala)
c.610T>G (p.Ser204Ala)
2g.27364895A>GCA346197399EIF2B4,GTF3C2-AS2c.1195T>C (p.Ser399Pro)
c.*461T>C (n.*461T>C)
c.1192T>C (p.Ser398Pro)
c.1255T>C (p.Ser419Pro)
n.188T>C
c.1258T>C (p.Ser420Pro)
c.1186T>C (p.Ser396Pro)
c.1150T>C (p.Ser384Pro)
c.1147T>C (p.Ser383Pro)
c.577T>C (p.Ser193Pro)
n.1772-2529A>G
c.1102T>C (p.Ser368Pro)
c.610T>C (p.Ser204Pro)
2g.27364895A>TCA346197401EIF2B4,GTF3C2-AS2c.1195T>A (p.Ser399Thr)
c.*461T>A (n.*461T>A)
c.1192T>A (p.Ser398Thr)
c.1255T>A (p.Ser419Thr)
n.188T>A
c.1258T>A (p.Ser420Thr)
c.1186T>A (p.Ser396Thr)
c.1150T>A (p.Ser384Thr)
c.1147T>A (p.Ser383Thr)
c.577T>A (p.Ser193Thr)
n.1772-2529A>T
c.1102T>A (p.Ser368Thr)
c.610T>A (p.Ser204Thr)
2g.27364896A>CCA425410452EIF2B4,GTF3C2-AS2c.1194T>G (p.Val398=)
c.*460T>G (n.*460T>G)
c.1191T>G (p.Val397=)
c.1254T>G (p.Val418=)
n.187T>G
c.1257T>G (p.Val419=)
c.1185T>G (p.Val395=)
c.1149T>G (p.Val383=)
c.1146T>G (p.Val382=)
c.576T>G (p.Val192=)
n.1772-2528A>C
c.1101T>G (p.Val367=)
c.609T>G (p.Val203=)
2g.27364896A>GCA425410453EIF2B4,GTF3C2-AS2c.1194T>C (p.Val398=)
c.*460T>C (n.*460T>C)
c.1191T>C (p.Val397=)
c.1254T>C (p.Val418=)
n.187T>C
c.1257T>C (p.Val419=)
c.1185T>C (p.Val395=)
c.1149T>C (p.Val383=)
c.1146T>C (p.Val382=)
c.576T>C (p.Val192=)
n.1772-2528A>G
c.1101T>C (p.Val367=)
c.609T>C (p.Val203=)
 gnomAD v4
2g.27364896A>TCA425410454EIF2B4,GTF3C2-AS2c.1194T>A (p.Val398=)
c.*460T>A (n.*460T>A)
c.1191T>A (p.Val397=)
c.1254T>A (p.Val418=)
n.187T>A
c.1257T>A (p.Val419=)
c.1185T>A (p.Val395=)
c.1149T>A (p.Val383=)
c.1146T>A (p.Val382=)
c.576T>A (p.Val192=)
n.1772-2528A>T
c.1101T>A (p.Val367=)
c.609T>A (p.Val203=)
2g.27364897A>CCA346197405EIF2B4,GTF3C2-AS2c.1193T>G (p.Val398Gly)
c.*459T>G (n.*459T>G)
c.1190T>G (p.Val397Gly)
c.1253T>G (p.Val418Gly)
n.186T>G
c.1256T>G (p.Val419Gly)
c.1184T>G (p.Val395Gly)
c.1148T>G (p.Val383Gly)
c.1145T>G (p.Val382Gly)
c.575T>G (p.Val192Gly)
n.1772-2527A>C
c.1100T>G (p.Val367Gly)
c.608T>G (p.Val203Gly)
2g.27364897A>GCA346197404EIF2B4,GTF3C2-AS2c.1193T>C (p.Val398Ala)
c.*459T>C (n.*459T>C)
c.1190T>C (p.Val397Ala)
c.1253T>C (p.Val418Ala)
n.186T>C
c.1256T>C (p.Val419Ala)
c.1184T>C (p.Val395Ala)
c.1148T>C (p.Val383Ala)
c.1145T>C (p.Val382Ala)
c.575T>C (p.Val192Ala)
n.1772-2527A>G
c.1100T>C (p.Val367Ala)
c.608T>C (p.Val203Ala)
 gnomAD v4
2g.27364897A>TCA346197403EIF2B4,GTF3C2-AS2c.1193T>A (p.Val398Asp)
c.*459T>A (n.*459T>A)
c.1190T>A (p.Val397Asp)
c.1253T>A (p.Val418Asp)
n.186T>A
c.1256T>A (p.Val419Asp)
c.1184T>A (p.Val395Asp)
c.1148T>A (p.Val383Asp)
c.1145T>A (p.Val382Asp)
c.575T>A (p.Val192Asp)
n.1772-2527A>T
c.1100T>A (p.Val367Asp)
c.608T>A (p.Val203Asp)
2g.27364898C>ACA346197406EIF2B4,GTF3C2-AS2c.1192G>T (p.Val398Phe)
c.*458G>T (n.*458G>T)
c.1189G>T (p.Val397Phe)
c.1252G>T (p.Val418Phe)
n.185G>T
c.1255G>T (p.Val419Phe)
c.1183G>T (p.Val395Phe)
c.1147G>T (p.Val383Phe)
c.1144G>T (p.Val382Phe)
c.574G>T (p.Val192Phe)
n.1772-2526C>A
c.1099G>T (p.Val367Phe)
c.607G>T (p.Val203Phe)
2g.27364898C>GCA346197408EIF2B4,GTF3C2-AS2c.1192G>C (p.Val398Leu)
c.*458G>C (n.*458G>C)
c.1189G>C (p.Val397Leu)
c.1252G>C (p.Val418Leu)
n.185G>C
c.1255G>C (p.Val419Leu)
c.1183G>C (p.Val395Leu)
c.1147G>C (p.Val383Leu)
c.1144G>C (p.Val382Leu)
c.574G>C (p.Val192Leu)
n.1772-2526C>G
c.1099G>C (p.Val367Leu)
c.607G>C (p.Val203Leu)
 gnomAD v4
2g.27364898C>TCA346197407EIF2B4,GTF3C2-AS2c.1192G>A (p.Val398Ile)
c.*458G>A (n.*458G>A)
c.1189G>A (p.Val397Ile)
c.1252G>A (p.Val418Ile)
n.185G>A
c.1255G>A (p.Val419Ile)
c.1183G>A (p.Val395Ile)
c.1147G>A (p.Val383Ile)
c.1144G>A (p.Val382Ile)
c.574G>A (p.Val192Ile)
n.1772-2526C>T
c.1099G>A (p.Val367Ile)
c.607G>A (p.Val203Ile)
2g.27364899C>ACA346197409EIF2B4,GTF3C2-AS2c.1192-1G>T (n.1192-1G>T)
c.*458-1G>T (n.*458-1G>T)
c.1189-1G>T (n.1189-1G>T)
c.1252-1G>T (n.1252-1G>T)
n.184G>T
c.1255-1G>T (n.1255-1G>T)
c.1183-1G>T (n.1183-1G>T)
c.1147-1G>T (n.1147-1G>T)
c.1144-1G>T (n.1144-1G>T)
c.574-1G>T (n.574-1G>T)
n.1772-2525C>A
c.1099-1G>T (n.1099-1G>T)
c.607-1G>T (n.607-1G>T)
2g.27364899C>GCA346197413EIF2B4,GTF3C2-AS2c.1192-1G>C (n.1192-1G>C)
c.*458-1G>C (n.*458-1G>C)
c.1189-1G>C (n.1189-1G>C)
c.1252-1G>C (n.1252-1G>C)
n.184G>C
c.1255-1G>C (n.1255-1G>C)
c.1183-1G>C (n.1183-1G>C)
c.1147-1G>C (n.1147-1G>C)
c.1144-1G>C (n.1144-1G>C)
c.574-1G>C (n.574-1G>C)
n.1772-2525C>G
c.1099-1G>C (n.1099-1G>C)
c.607-1G>C (n.607-1G>C)
2g.27364899C>TCA346197411EIF2B4,GTF3C2-AS2c.1192-1G>A (n.1192-1G>A)
c.*458-1G>A (n.*458-1G>A)
c.1189-1G>A (n.1189-1G>A)
c.1252-1G>A (n.1252-1G>A)
n.184G>A
c.1255-1G>A (n.1255-1G>A)
c.1183-1G>A (n.1183-1G>A)
c.1147-1G>A (n.1147-1G>A)
c.1144-1G>A (n.1144-1G>A)
c.574-1G>A (n.574-1G>A)
n.1772-2525C>T
c.1099-1G>A (n.1099-1G>A)
c.607-1G>A (n.607-1G>A)
2g.27364900T>ACA346197414EIF2B4,GTF3C2-AS2c.1192-2A>T (n.1192-2A>T)
c.*458-2A>T (n.*458-2A>T)
c.1189-2A>T (n.1189-2A>T)
c.1252-2A>T (n.1252-2A>T)
n.183A>T
c.1255-2A>T (n.1255-2A>T)
c.1183-2A>T (n.1183-2A>T)
c.1147-2A>T (n.1147-2A>T)
c.1144-2A>T (n.1144-2A>T)
c.574-2A>T (n.574-2A>T)
n.1772-2524T>A
c.1099-2A>T (n.1099-2A>T)
c.607-2A>T (n.607-2A>T)
2g.27364900T>CCA346197420EIF2B4,GTF3C2-AS2c.1192-2A>G (n.1192-2A>G)
c.*458-2A>G (n.*458-2A>G)
c.1189-2A>G (n.1189-2A>G)
c.1252-2A>G (n.1252-2A>G)
n.183A>G
c.1255-2A>G (n.1255-2A>G)
c.1183-2A>G (n.1183-2A>G)
c.1147-2A>G (n.1147-2A>G)
c.1144-2A>G (n.1144-2A>G)
c.574-2A>G (n.574-2A>G)
n.1772-2524T>C
c.1099-2A>G (n.1099-2A>G)
c.607-2A>G (n.607-2A>G)
2g.27364900T>GCA346197416EIF2B4,GTF3C2-AS2c.1192-2A>C (n.1192-2A>C)
c.*458-2A>C (n.*458-2A>C)
c.1189-2A>C (n.1189-2A>C)
c.1252-2A>C (n.1252-2A>C)
n.183A>C
c.1255-2A>C (n.1255-2A>C)
c.1183-2A>C (n.1183-2A>C)
c.1147-2A>C (n.1147-2A>C)
c.1144-2A>C (n.1144-2A>C)
c.574-2A>C (n.574-2A>C)
n.1772-2524T>G
c.1099-2A>C (n.1099-2A>C)
c.607-2A>C (n.607-2A>C)
2g.27364900_27364901insCTGGGAGCACATAGGAGGCTGCAGGAATCAGCAGGTAGGAGGCTGGCA2699012475EIF2B4,GTF3C2-AS2c.1192-3_1192-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG (n.1192-3_1192-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG)
c.*458-3_*458-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG (n.*458-3_*458-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG)
c.1189-3_1189-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG (n.1189-3_1189-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG)
c.1252-3_1252-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG (n.1252-3_1252-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG)
n.182_183insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG
c.1255-3_1255-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG (n.1255-3_1255-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG)
c.1183-3_1183-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG (n.1183-3_1183-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG)
c.1147-3_1147-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG (n.1147-3_1147-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG)
c.1144-3_1144-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG (n.1144-3_1144-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG)
c.574-3_574-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG (n.574-3_574-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG)
n.1772-2524_1772-2523insCTGGGAGCACATAGGAGGCTGCAGGAATCAGCAGGTAGGAGGCTGG
c.1099-3_1099-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG (n.1099-3_1099-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG)
c.607-3_607-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG (n.607-3_607-2insCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAG)
 dbSNP
2g.27364902T>CCA2576977110EIF2B4,GTF3C2-AS2c.1192-4A>G (n.1192-4A>G)
c.*458-4A>G (n.*458-4A>G)
c.1189-4A>G (n.1189-4A>G)
c.1252-4A>G (n.1252-4A>G)
n.181A>G
c.1255-4A>G (n.1255-4A>G)
c.1183-4A>G (n.1183-4A>G)
c.1147-4A>G (n.1147-4A>G)
c.1144-4A>G (n.1144-4A>G)
c.574-4A>G (n.574-4A>G)
n.1772-2522T>C
c.1099-4A>G (n.1099-4A>G)
c.607-4A>G (n.607-4A>G)
2g.27364903T>GCA2739274255EIF2B4,GTF3C2-AS2c.1192-5A>C (n.1192-5A>C)
c.*458-5A>C (n.*458-5A>C)
c.1189-5A>C (n.1189-5A>C)
c.1252-5A>C (n.1252-5A>C)
n.180A>C
c.1255-5A>C (n.1255-5A>C)
c.1183-5A>C (n.1183-5A>C)
c.1147-5A>C (n.1147-5A>C)
c.1144-5A>C (n.1144-5A>C)
c.574-5A>C (n.574-5A>C)
n.1772-2521T>G
c.1099-5A>C (n.1099-5A>C)
c.607-5A>C (n.607-5A>C)
 ClinVar

Number of alleles fetched