| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27366758C>A | CA346197447 | EIF2B4,GTF3C2-AS2 | c.1191+1G>T (n.1191+1G>T) c.*457+1G>T (n.*457+1G>T) c.1188+1G>T (n.1188+1G>T) c.1251+1G>T (n.1251+1G>T) n.3093G>T c.1254+1G>T (n.1254+1G>T) c.1182+1G>T (n.1182+1G>T) c.1146+1G>T (n.1146+1G>T) c.1143+1G>T (n.1143+1G>T) c.573+1G>T (n.573+1G>T) n.1772-666C>A c.1098+1G>T (n.1098+1G>T) c.606+1G>T (n.606+1G>T) | |
| 2 | g.27366758C= | CA1240244332 | EIF2B4,GTF3C2-AS2 | c.1191+1G= (n.1191+1G=) c.*457+1G= (n.*457+1G=) c.1188+1G= (n.1188+1G=) c.1251+1G= (n.1251+1G=) n.3093G= c.1254+1G= (n.1254+1G=) c.1182+1G= (n.1182+1G=) c.1146+1G= (n.1146+1G=) c.1143+1G= (n.1143+1G=) c.573+1G= (n.573+1G=) n.1772-666C= c.1098+1G= (n.1098+1G=) c.606+1G= (n.606+1G=) | |
| 2 | g.27366758C>G | CA346197448 | EIF2B4,GTF3C2-AS2 | c.1191+1G>C (n.1191+1G>C) c.*457+1G>C (n.*457+1G>C) c.1188+1G>C (n.1188+1G>C) c.1251+1G>C (n.1251+1G>C) n.3093G>C c.1254+1G>C (n.1254+1G>C) c.1182+1G>C (n.1182+1G>C) c.1146+1G>C (n.1146+1G>C) c.1143+1G>C (n.1143+1G>C) c.573+1G>C (n.573+1G>C) n.1772-666C>G c.1098+1G>C (n.1098+1G>C) c.606+1G>C (n.606+1G>C) | |
| 2 | g.27366758C>T | CA340163 | EIF2B4,GTF3C2-AS2 | c.1191+1G>A (n.1191+1G>A) c.*457+1G>A (n.*457+1G>A) c.1188+1G>A (n.1188+1G>A) c.1251+1G>A (n.1251+1G>A) n.3093G>A c.1254+1G>A (n.1254+1G>A) c.1182+1G>A (n.1182+1G>A) c.1146+1G>A (n.1146+1G>A) c.1143+1G>A (n.1143+1G>A) c.573+1G>A (n.573+1G>A) n.1772-666C>T c.1098+1G>A (n.1098+1G>A) c.606+1G>A (n.606+1G>A) | ClinVar dbSNP |
| 2 | g.27366759C>A | CA346197449 | EIF2B4,GTF3C2-AS2 | c.1191G>T (p.Glu397Asp) c.*457G>T (n.*457G>T) c.1188G>T (p.Glu396Asp) c.1251G>T (p.Glu417Asp) n.3092G>T c.1254G>T (p.Glu418Asp) c.1182G>T (p.Glu394Asp) c.1146G>T (p.Glu382Asp) c.1143G>T (p.Glu381Asp) c.573G>T (p.Glu191Asp) n.1772-665C>A c.1098G>T (p.Glu366Asp) c.606G>T (p.Glu202Asp) | gnomAD v4 |
| 2 | g.27366759C= | CA1240244336 | EIF2B4,GTF3C2-AS2 | c.1191G= (p.Glu397=) c.*457G= (n.*457G=) c.1188G= (p.Glu396=) c.1251G= (p.Glu417=) n.3092G= c.1254G= (p.Glu418=) c.1182G= (p.Glu394=) c.1146G= (p.Glu382=) c.1143G= (p.Glu381=) c.573G= (p.Glu191=) n.1772-665C= c.1098G= (p.Glu366=) c.606G= (p.Glu202=) | |
| 2 | g.27366759C>G | CA346197450 | EIF2B4,GTF3C2-AS2 | c.1191G>C (p.Glu397Asp) c.*457G>C (n.*457G>C) c.1188G>C (p.Glu396Asp) c.1251G>C (p.Glu417Asp) n.3092G>C c.1254G>C (p.Glu418Asp) c.1182G>C (p.Glu394Asp) c.1146G>C (p.Glu382Asp) c.1143G>C (p.Glu381Asp) c.573G>C (p.Glu191Asp) n.1772-665C>G c.1098G>C (p.Glu366Asp) c.606G>C (p.Glu202Asp) | |
| 2 | g.27366759C>T | CA425410504 | EIF2B4,GTF3C2-AS2 | c.1191G>A (p.Glu397=) c.*457G>A (n.*457G>A) c.1188G>A (p.Glu396=) c.1251G>A (p.Glu417=) n.3092G>A c.1254G>A (p.Glu418=) c.1182G>A (p.Glu394=) c.1146G>A (p.Glu382=) c.1143G>A (p.Glu381=) c.573G>A (p.Glu191=) n.1772-665C>T c.1098G>A (p.Glu366=) c.606G>A (p.Glu202=) | dbSNP gnomAD v4 |
| 2 | g.27366760T>A | CA346197451 | EIF2B4,GTF3C2-AS2 | c.1190A>T (p.Glu397Val) c.*456A>T (n.*456A>T) c.1187A>T (p.Glu396Val) c.1250A>T (p.Glu417Val) n.3091A>T c.1253A>T (p.Glu418Val) c.1181A>T (p.Glu394Val) c.1145A>T (p.Glu382Val) c.1142A>T (p.Glu381Val) c.572A>T (p.Glu191Val) n.1772-664T>A c.1097A>T (p.Glu366Val) c.605A>T (p.Glu202Val) | |
| 2 | g.27366760T>C | CA346197452 | EIF2B4,GTF3C2-AS2 | c.1190A>G (p.Glu397Gly) c.*456A>G (n.*456A>G) c.1187A>G (p.Glu396Gly) c.1250A>G (p.Glu417Gly) n.3091A>G c.1253A>G (p.Glu418Gly) c.1181A>G (p.Glu394Gly) c.1145A>G (p.Glu382Gly) c.1142A>G (p.Glu381Gly) c.572A>G (p.Glu191Gly) n.1772-664T>C c.1097A>G (p.Glu366Gly) c.605A>G (p.Glu202Gly) | |
| 2 | g.27366760T>G | CA346197453 | EIF2B4,GTF3C2-AS2 | c.1190A>C (p.Glu397Ala) c.*456A>C (n.*456A>C) c.1187A>C (p.Glu396Ala) c.1250A>C (p.Glu417Ala) n.3091A>C c.1253A>C (p.Glu418Ala) c.1181A>C (p.Glu394Ala) c.1145A>C (p.Glu382Ala) c.1142A>C (p.Glu381Ala) c.572A>C (p.Glu191Ala) n.1772-664T>G c.1097A>C (p.Glu366Ala) c.605A>C (p.Glu202Ala) | |
| 2 | g.27366761C>A | CA346197454 | EIF2B4,GTF3C2-AS2 | c.1189G>T (p.Glu397Ter) c.*455G>T (n.*455G>T) c.1186G>T (p.Glu396Ter) c.1249G>T (p.Glu417Ter) n.3090G>T c.1252G>T (p.Glu418Ter) c.1180G>T (p.Glu394Ter) c.1144G>T (p.Glu382Ter) c.1141G>T (p.Glu381Ter) c.571G>T (p.Glu191Ter) n.1772-663C>A c.1096G>T (p.Glu366Ter) c.604G>T (p.Glu202Ter) | |
| 2 | g.27366761C>G | CA346197455 | EIF2B4,GTF3C2-AS2 | c.1189G>C (p.Glu397Gln) c.*455G>C (n.*455G>C) c.1186G>C (p.Glu396Gln) c.1249G>C (p.Glu417Gln) n.3090G>C c.1252G>C (p.Glu418Gln) c.1180G>C (p.Glu394Gln) c.1144G>C (p.Glu382Gln) c.1141G>C (p.Glu381Gln) c.571G>C (p.Glu191Gln) n.1772-663C>G c.1096G>C (p.Glu366Gln) c.604G>C (p.Glu202Gln) | |
| 2 | g.27366761C>T | CA346197456 | EIF2B4,GTF3C2-AS2 | c.1189G>A (p.Glu397Lys) c.*455G>A (n.*455G>A) c.1186G>A (p.Glu396Lys) c.1249G>A (p.Glu417Lys) n.3090G>A c.1252G>A (p.Glu418Lys) c.1180G>A (p.Glu394Lys) c.1144G>A (p.Glu382Lys) c.1141G>A (p.Glu381Lys) c.571G>A (p.Glu191Lys) n.1772-663C>T c.1096G>A (p.Glu366Lys) c.604G>A (p.Glu202Lys) | |
| 2 | g.27366762T>A | CA425410506 | EIF2B4,GTF3C2-AS2 | c.1188A>T (p.Pro396=) c.*454A>T (n.*454A>T) c.1185A>T (p.Pro395=) c.1248A>T (p.Pro416=) n.3089A>T c.1251A>T (p.Pro417=) c.1179A>T (p.Pro393=) c.1143A>T (p.Pro381=) c.1140A>T (p.Pro380=) c.570A>T (p.Pro190=) n.1772-662T>A c.1095A>T (p.Pro365=) c.603A>T (p.Pro201=) | |
| 2 | g.27366762T>C | CA425410507 | EIF2B4,GTF3C2-AS2 | c.1188A>G (p.Pro396=) c.*454A>G (n.*454A>G) c.1185A>G (p.Pro395=) c.1248A>G (p.Pro416=) n.3089A>G c.1251A>G (p.Pro417=) c.1179A>G (p.Pro393=) c.1143A>G (p.Pro381=) c.1140A>G (p.Pro380=) c.570A>G (p.Pro190=) n.1772-662T>C c.1095A>G (p.Pro365=) c.603A>G (p.Pro201=) | ClinVar |
| 2 | g.27366762T>G | CA425410508 | EIF2B4,GTF3C2-AS2 | c.1188A>C (p.Pro396=) c.*454A>C (n.*454A>C) c.1185A>C (p.Pro395=) c.1248A>C (p.Pro416=) n.3089A>C c.1251A>C (p.Pro417=) c.1179A>C (p.Pro393=) c.1143A>C (p.Pro381=) c.1140A>C (p.Pro380=) c.570A>C (p.Pro190=) n.1772-662T>G c.1095A>C (p.Pro365=) c.603A>C (p.Pro201=) | |
| 2 | g.27366763G>A | CA346197457 | EIF2B4,GTF3C2-AS2 | c.1187C>T (p.Pro396Leu) c.*453C>T (n.*453C>T) c.761C>T c.1184C>T (p.Pro395Leu) c.1247C>T (p.Pro416Leu) n.3088C>T c.1250C>T (p.Pro417Leu) c.1178C>T (p.Pro393Leu) c.1142C>T (p.Pro381Leu) c.1139C>T (p.Pro380Leu) c.569C>T (p.Pro190Leu) n.1772-661G>A c.1094C>T (p.Pro365Leu) c.602C>T (p.Pro201Leu) | |
| 2 | g.27366763G>C | CA346197458 | EIF2B4,GTF3C2-AS2 | c.1187C>G (p.Pro396Arg) c.*453C>G (n.*453C>G) c.761C>G c.1184C>G (p.Pro395Arg) c.1247C>G (p.Pro416Arg) n.3088C>G c.1250C>G (p.Pro417Arg) c.1178C>G (p.Pro393Arg) c.1142C>G (p.Pro381Arg) c.1139C>G (p.Pro380Arg) c.569C>G (p.Pro190Arg) n.1772-661G>C c.1094C>G (p.Pro365Arg) c.602C>G (p.Pro201Arg) | |
| 2 | g.27366763G>T | CA346197459 | EIF2B4,GTF3C2-AS2 | c.1187C>A (p.Pro396Gln) c.*453C>A (n.*453C>A) c.761C>A c.1184C>A (p.Pro395Gln) c.1247C>A (p.Pro416Gln) n.3088C>A c.1250C>A (p.Pro417Gln) c.1178C>A (p.Pro393Gln) c.1142C>A (p.Pro381Gln) c.1139C>A (p.Pro380Gln) c.569C>A (p.Pro190Gln) n.1772-661G>T c.1094C>A (p.Pro365Gln) c.602C>A (p.Pro201Gln) | |
| 2 | g.27366763_27366764delinsAA | CA645539329 | EIF2B4,GTF3C2-AS2 | c.1186_1187delinsTT (p.Pro396Leu) c.*452_*453delinsTT (n.*452_*453delinsTT) c.760_761delinsTT c.1183_1184delinsTT (p.Pro395Leu) c.1246_1247delinsTT (p.Pro416Leu) n.3087_3088delinsTT c.1249_1250delinsTT (p.Pro417Leu) c.1177_1178delinsTT (p.Pro393Leu) c.1141_1142delinsTT (p.Pro381Leu) c.1138_1139delinsTT (p.Pro380Leu) c.568_569delinsTT (p.Pro190Leu) n.1772-661_1772-660delinsAA c.1093_1094delinsTT (p.Pro365Leu) c.601_602delinsTT (p.Pro201Leu) | COSMIC COSMIC |
| 2 | g.27366764G>A | CA346197462 | EIF2B4,GTF3C2-AS2 | c.1186C>T (p.Pro396Ser) c.*452C>T (n.*452C>T) c.760C>T c.1183C>T (p.Pro395Ser) c.1246C>T (p.Pro416Ser) n.3087C>T c.1249C>T (p.Pro417Ser) c.1177C>T (p.Pro393Ser) c.1141C>T (p.Pro381Ser) c.1138C>T (p.Pro380Ser) c.568C>T (p.Pro190Ser) n.1772-660G>A c.1093C>T (p.Pro365Ser) c.601C>T (p.Pro201Ser) | |
| 2 | g.27366764G>C | CA346197461 | EIF2B4,GTF3C2-AS2 | c.1186C>G (p.Pro396Ala) c.*452C>G (n.*452C>G) c.760C>G c.1183C>G (p.Pro395Ala) c.1246C>G (p.Pro416Ala) n.3087C>G c.1249C>G (p.Pro417Ala) c.1177C>G (p.Pro393Ala) c.1141C>G (p.Pro381Ala) c.1138C>G (p.Pro380Ala) c.568C>G (p.Pro190Ala) n.1772-660G>C c.1093C>G (p.Pro365Ala) c.601C>G (p.Pro201Ala) | |
| 2 | g.27366764G>T | CA346197460 | EIF2B4,GTF3C2-AS2 | c.1186C>A (p.Pro396Thr) c.*452C>A (n.*452C>A) c.760C>A c.1183C>A (p.Pro395Thr) c.1246C>A (p.Pro416Thr) n.3087C>A c.1249C>A (p.Pro417Thr) c.1177C>A (p.Pro393Thr) c.1141C>A (p.Pro381Thr) c.1138C>A (p.Pro380Thr) c.568C>A (p.Pro190Thr) n.1772-660G>T c.1093C>A (p.Pro365Thr) c.601C>A (p.Pro201Thr) | |
| 2 | g.27366765G>A | CA425410513 | EIF2B4,GTF3C2-AS2 | c.1185C>T (p.Leu395=) c.*451C>T (n.*451C>T) c.759C>T c.1182C>T (p.Leu394=) c.1245C>T (p.Leu415=) n.3086C>T c.1248C>T (p.Leu416=) c.1176C>T (p.Leu392=) c.1140C>T (p.Leu380=) c.1137C>T (p.Leu379=) c.567C>T (p.Leu189=) n.1772-659G>A c.1092C>T (p.Leu364=) c.600C>T (p.Leu200=) | gnomAD v4 |
| 2 | g.27366765G>C | CA425410512 | EIF2B4,GTF3C2-AS2 | c.1185C>G (p.Leu395=) c.*451C>G (n.*451C>G) c.759C>G c.1182C>G (p.Leu394=) c.1245C>G (p.Leu415=) n.3086C>G c.1248C>G (p.Leu416=) c.1176C>G (p.Leu392=) c.1140C>G (p.Leu380=) c.1137C>G (p.Leu379=) c.567C>G (p.Leu189=) n.1772-659G>C c.1092C>G (p.Leu364=) c.600C>G (p.Leu200=) | |
| 2 | g.27366765G>T | CA425410511 | EIF2B4,GTF3C2-AS2 | c.1185C>A (p.Leu395=) c.*451C>A (n.*451C>A) c.759C>A c.1182C>A (p.Leu394=) c.1245C>A (p.Leu415=) n.3086C>A c.1248C>A (p.Leu416=) c.1176C>A (p.Leu392=) c.1140C>A (p.Leu380=) c.1137C>A (p.Leu379=) c.567C>A (p.Leu189=) n.1772-659G>T c.1092C>A (p.Leu364=) c.600C>A (p.Leu200=) | |
| 2 | g.27366766A>C | CA346197463 | EIF2B4,GTF3C2-AS2 | c.1184T>G (p.Leu395Arg) c.*450T>G (n.*450T>G) c.758T>G c.1181T>G (p.Leu394Arg) c.1244T>G (p.Leu415Arg) n.3085T>G c.1247T>G (p.Leu416Arg) c.1175T>G (p.Leu392Arg) c.1139T>G (p.Leu380Arg) c.1136T>G (p.Leu379Arg) c.566T>G (p.Leu189Arg) n.1772-658A>C c.1091T>G (p.Leu364Arg) c.599T>G (p.Leu200Arg) | |
| 2 | g.27366766A>G | CA346197464 | EIF2B4,GTF3C2-AS2 | c.1184T>C (p.Leu395Pro) c.*450T>C (n.*450T>C) c.758T>C c.1181T>C (p.Leu394Pro) c.1244T>C (p.Leu415Pro) n.3085T>C c.1247T>C (p.Leu416Pro) c.1175T>C (p.Leu392Pro) c.1139T>C (p.Leu380Pro) c.1136T>C (p.Leu379Pro) c.566T>C (p.Leu189Pro) n.1772-658A>G c.1091T>C (p.Leu364Pro) c.599T>C (p.Leu200Pro) | |
| 2 | g.27366766A>T | CA346197465 | EIF2B4,GTF3C2-AS2 | c.1184T>A (p.Leu395His) c.*450T>A (n.*450T>A) c.758T>A c.1181T>A (p.Leu394His) c.1244T>A (p.Leu415His) n.3085T>A c.1247T>A (p.Leu416His) c.1175T>A (p.Leu392His) c.1139T>A (p.Leu380His) c.1136T>A (p.Leu379His) c.566T>A (p.Leu189His) n.1772-658A>T c.1091T>A (p.Leu364His) c.599T>A (p.Leu200His) | |
| 2 | g.27366767G>A | CA346197466 | EIF2B4,GTF3C2-AS2 | c.1183C>T (p.Leu395Phe) c.*449C>T (n.*449C>T) c.757C>T c.1180C>T (p.Leu394Phe) c.1243C>T (p.Leu415Phe) n.3084C>T c.1246C>T (p.Leu416Phe) c.1174C>T (p.Leu392Phe) c.1138C>T (p.Leu380Phe) c.1135C>T (p.Leu379Phe) c.565C>T (p.Leu189Phe) n.1772-657G>A c.1090C>T (p.Leu364Phe) c.598C>T (p.Leu200Phe) | |
| 2 | g.27366767G>C | CA346197467 | EIF2B4,GTF3C2-AS2 | c.1183C>G (p.Leu395Val) c.*449C>G (n.*449C>G) c.757C>G c.1180C>G (p.Leu394Val) c.1243C>G (p.Leu415Val) n.3084C>G c.1246C>G (p.Leu416Val) c.1174C>G (p.Leu392Val) c.1138C>G (p.Leu380Val) c.1135C>G (p.Leu379Val) c.565C>G (p.Leu189Val) n.1772-657G>C c.1090C>G (p.Leu364Val) c.598C>G (p.Leu200Val) | |
| 2 | g.27366767G>T | CA346197468 | EIF2B4,GTF3C2-AS2 | c.1183C>A (p.Leu395Ile) c.*449C>A (n.*449C>A) c.757C>A c.1180C>A (p.Leu394Ile) c.1243C>A (p.Leu415Ile) n.3084C>A c.1246C>A (p.Leu416Ile) c.1174C>A (p.Leu392Ile) c.1138C>A (p.Leu380Ile) c.1135C>A (p.Leu379Ile) c.565C>A (p.Leu189Ile) n.1772-657G>T c.1090C>A (p.Leu364Ile) c.598C>A (p.Leu200Ile) | |
| 2 | g.27366768C>A | CA425410515 | EIF2B4,GTF3C2-AS2 | c.1182G>T (p.Val394=) c.*448G>T (n.*448G>T) c.756G>T c.1179G>T (p.Val393=) c.1242G>T (p.Val414=) n.3083G>T c.1245G>T (p.Val415=) c.1173G>T (p.Val391=) c.1137G>T (p.Val379=) c.1134G>T (p.Val378=) c.564G>T (p.Val188=) n.1772-656C>A c.1089G>T (p.Val363=) c.597G>T (p.Val199=) | |
| 2 | g.27366768C>G | CA425410516 | EIF2B4,GTF3C2-AS2 | c.1182G>C (p.Val394=) c.*448G>C (n.*448G>C) c.756G>C c.1179G>C (p.Val393=) c.1242G>C (p.Val414=) n.3083G>C c.1245G>C (p.Val415=) c.1173G>C (p.Val391=) c.1137G>C (p.Val379=) c.1134G>C (p.Val378=) c.564G>C (p.Val188=) n.1772-656C>G c.1089G>C (p.Val363=) c.597G>C (p.Val199=) | |
| 2 | g.27366768C>T | CA425410517 | EIF2B4,GTF3C2-AS2 | c.1182G>A (p.Val394=) c.*448G>A (n.*448G>A) c.756G>A c.1179G>A (p.Val393=) c.1242G>A (p.Val414=) n.3083G>A c.1245G>A (p.Val415=) c.1173G>A (p.Val391=) c.1137G>A (p.Val379=) c.1134G>A (p.Val378=) c.564G>A (p.Val188=) n.1772-656C>T c.1089G>A (p.Val363=) c.597G>A (p.Val199=) | |
| 2 | g.27366769A= | CA1240244339 | EIF2B4,GTF3C2-AS2 | c.1181T= (p.Val394=) c.*447T= (n.*447T=) c.755T= c.1178T= (p.Val393=) c.1241T= (p.Val414=) n.3082T= c.1244T= (p.Val415=) c.1172T= (p.Val391=) c.1136T= (p.Val379=) c.1133T= (p.Val378=) c.563T= (p.Val188=) n.1772-655A= c.1088T= (p.Val363=) c.596T= (p.Val199=) | |
| 2 | g.27366769A>C | CA346197469 | EIF2B4,GTF3C2-AS2 | c.1181T>G (p.Val394Gly) c.*447T>G (n.*447T>G) c.755T>G c.1178T>G (p.Val393Gly) c.1241T>G (p.Val414Gly) n.3082T>G c.1244T>G (p.Val415Gly) c.1172T>G (p.Val391Gly) c.1136T>G (p.Val379Gly) c.1133T>G (p.Val378Gly) c.563T>G (p.Val188Gly) n.1772-655A>C c.1088T>G (p.Val363Gly) c.596T>G (p.Val199Gly) | |
| 2 | g.27366769A>G | CA1576642 | EIF2B4,GTF3C2-AS2 | c.1181T>C (p.Val394Ala) c.*447T>C (n.*447T>C) c.755T>C c.1178T>C (p.Val393Ala) c.1241T>C (p.Val414Ala) n.3082T>C c.1244T>C (p.Val415Ala) c.1172T>C (p.Val391Ala) c.1136T>C (p.Val379Ala) c.1133T>C (p.Val378Ala) c.563T>C (p.Val188Ala) n.1772-655A>G c.1088T>C (p.Val363Ala) c.596T>C (p.Val199Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.27366769A>T | CA346197470 | EIF2B4,GTF3C2-AS2 | c.1181T>A (p.Val394Glu) c.*447T>A (n.*447T>A) c.755T>A c.1178T>A (p.Val393Glu) c.1241T>A (p.Val414Glu) n.3082T>A c.1244T>A (p.Val415Glu) c.1172T>A (p.Val391Glu) c.1136T>A (p.Val379Glu) c.1133T>A (p.Val378Glu) c.563T>A (p.Val188Glu) n.1772-655A>T c.1088T>A (p.Val363Glu) c.596T>A (p.Val199Glu) | |
| 2 | g.27366770C>A | CA346197472 | EIF2B4,GTF3C2-AS2 | c.1180G>T (p.Val394Leu) c.*446G>T (n.*446G>T) c.754G>T c.1177G>T (p.Val393Leu) c.1240G>T (p.Val414Leu) n.3081G>T c.1243G>T (p.Val415Leu) c.1171G>T (p.Val391Leu) c.1135G>T (p.Val379Leu) c.1132G>T (p.Val378Leu) c.562G>T (p.Val188Leu) n.1772-654C>A c.1087G>T (p.Val363Leu) c.595G>T (p.Val199Leu) | |
| 2 | g.27366770C>G | CA346197473 | EIF2B4,GTF3C2-AS2 | c.1180G>C (p.Val394Leu) c.*446G>C (n.*446G>C) c.754G>C c.1177G>C (p.Val393Leu) c.1240G>C (p.Val414Leu) n.3081G>C c.1243G>C (p.Val415Leu) c.1171G>C (p.Val391Leu) c.1135G>C (p.Val379Leu) c.1132G>C (p.Val378Leu) c.562G>C (p.Val188Leu) n.1772-654C>G c.1087G>C (p.Val363Leu) c.595G>C (p.Val199Leu) | |
| 2 | g.27366770C>T | CA346197475 | EIF2B4,GTF3C2-AS2 | c.1180G>A (p.Val394Met) c.*446G>A (n.*446G>A) c.754G>A c.1177G>A (p.Val393Met) c.1240G>A (p.Val414Met) n.3081G>A c.1243G>A (p.Val415Met) c.1171G>A (p.Val391Met) c.1135G>A (p.Val379Met) c.1132G>A (p.Val378Met) c.562G>A (p.Val188Met) n.1772-654C>T c.1087G>A (p.Val363Met) c.595G>A (p.Val199Met) | ClinVar gnomAD v4 |
| 2 | g.27366771A>C | CA346197477 | EIF2B4,GTF3C2-AS2 | c.1179T>G (p.Tyr393Ter) c.*445T>G (n.*445T>G) c.753T>G c.1176T>G (p.Tyr392Ter) c.1239T>G (p.Tyr413Ter) n.3080T>G c.1242T>G (p.Tyr414Ter) c.1170T>G (p.Tyr390Ter) c.1134T>G (p.Tyr378Ter) c.1131T>G (p.Tyr377Ter) c.561T>G (p.Tyr187Ter) n.1772-653A>C c.1086T>G (p.Tyr362Ter) c.594T>G (p.Tyr198Ter) | |
| 2 | g.27366771A>G | CA425410519 | EIF2B4,GTF3C2-AS2 | c.1179T>C (p.Tyr393=) c.*445T>C (n.*445T>C) c.753T>C c.1176T>C (p.Tyr392=) c.1239T>C (p.Tyr413=) n.3080T>C c.1242T>C (p.Tyr414=) c.1170T>C (p.Tyr390=) c.1134T>C (p.Tyr378=) c.1131T>C (p.Tyr377=) c.561T>C (p.Tyr187=) n.1772-653A>G c.1086T>C (p.Tyr362=) c.594T>C (p.Tyr198=) | |
| 2 | g.27366771A>T | CA346197478 | EIF2B4,GTF3C2-AS2 | c.1179T>A (p.Tyr393Ter) c.*445T>A (n.*445T>A) c.753T>A c.1176T>A (p.Tyr392Ter) c.1239T>A (p.Tyr413Ter) n.3080T>A c.1242T>A (p.Tyr414Ter) c.1170T>A (p.Tyr390Ter) c.1134T>A (p.Tyr378Ter) c.1131T>A (p.Tyr377Ter) c.561T>A (p.Tyr187Ter) n.1772-653A>T c.1086T>A (p.Tyr362Ter) c.594T>A (p.Tyr198Ter) | |
| 2 | g.27366772T>A | CA346197480 | EIF2B4,GTF3C2-AS2 | c.1178A>T (p.Tyr393Phe) c.*444A>T (n.*444A>T) c.752A>T c.1175A>T (p.Tyr392Phe) c.1238A>T (p.Tyr413Phe) n.3079A>T c.1241A>T (p.Tyr414Phe) c.1169A>T (p.Tyr390Phe) c.1133A>T (p.Tyr378Phe) c.1130A>T (p.Tyr377Phe) c.560A>T (p.Tyr187Phe) n.1772-652T>A c.1085A>T (p.Tyr362Phe) c.593A>T (p.Tyr198Phe) | |
| 2 | g.27366772T>C | CA346197482 | EIF2B4,GTF3C2-AS2 | c.1178A>G (p.Tyr393Cys) c.*444A>G (n.*444A>G) c.752A>G c.1175A>G (p.Tyr392Cys) c.1238A>G (p.Tyr413Cys) n.3079A>G c.1241A>G (p.Tyr414Cys) c.1169A>G (p.Tyr390Cys) c.1133A>G (p.Tyr378Cys) c.1130A>G (p.Tyr377Cys) c.560A>G (p.Tyr187Cys) n.1772-652T>C c.1085A>G (p.Tyr362Cys) c.593A>G (p.Tyr198Cys) | dbSNP gnomAD v4 |
| 2 | g.27366772T>G | CA346197483 | EIF2B4,GTF3C2-AS2 | c.1178A>C (p.Tyr393Ser) c.*444A>C (n.*444A>C) c.752A>C c.1175A>C (p.Tyr392Ser) c.1238A>C (p.Tyr413Ser) n.3079A>C c.1241A>C (p.Tyr414Ser) c.1169A>C (p.Tyr390Ser) c.1133A>C (p.Tyr378Ser) c.1130A>C (p.Tyr377Ser) c.560A>C (p.Tyr187Ser) n.1772-652T>G c.1085A>C (p.Tyr362Ser) c.593A>C (p.Tyr198Ser) | dbSNP gnomAD v4 |
| 2 | g.27366772T= | CA1240244345 | EIF2B4,GTF3C2-AS2 | c.1178A= (p.Tyr393=) c.*444A= (n.*444A=) c.752A= c.1175A= (p.Tyr392=) c.1238A= (p.Tyr413=) n.3079A= c.1241A= (p.Tyr414=) c.1169A= (p.Tyr390=) c.1133A= (p.Tyr378=) c.1130A= (p.Tyr377=) c.560A= (p.Tyr187=) n.1772-652T= c.1085A= (p.Tyr362=) c.593A= (p.Tyr198=) |