Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.27364809A>C | CA425410255 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364809A>G | CA425410259 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364809A>T | CA425410260 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364810G>A | CA346197119 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364810G>C | CA346197120 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364810G>T | CA346197117 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364811C>A | CA346197125 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364811C>G | CA346197122 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364811C>T | CA346197124 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364812C>A | CA425410263 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364812C>G | CA425410264 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364812C>T | CA425410265 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364813A= | CA1240242936 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364813A>C | CA346197126 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364813A>G | CA1576610 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364813A>T | CA346197128 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364814C>A | CA346197130 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364814C>G | CA346197132 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364814C>T | CA346197133 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364815C>A | CA425410268 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364815C= | CA1240242937 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364815C>G | CA425410269 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364815C>T | CA1576611 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364816A>C | CA346197136 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364816A>G | CA346197137 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364816A>T | CA346197139 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364817G>A | CA425410270 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364817G>C | CA346197142 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364817G>T | CA346197140 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364818G>A | CA425410279 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364818G>C | CA425410276 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364818G>T | CA425410274 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364819G>A | CA346197144 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364819G>C | CA346197145 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364819G>T | CA346197146 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364820C>A | CA346197148 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364820C>G | CA346197150 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364820C>T | CA346197151 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364821T>A | CA346197153 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364821T>C | CA425410285 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364821T>G | CA346197154 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364822A>C | CA346197155 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364822A>G | CA346197157 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364822A>T | CA346197159 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364823A>C | CA346197160 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364823A>G | CA425410291 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364823A>T | CA346197162 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364824C>A | CA346197166 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364824C= | CA1240242938 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364824C>G | CA346197164 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364824C>T | CA425410293 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364825T>A | CA346197167 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364825T>C | CA346197168 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364825T>G | CA346197170 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364827_27364828del | CA2658336180 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364826G>A | CA346197172 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364826G>C | CA346197173 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364826G= | CA1240242939 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364826G>T | CA346197174 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364827T>A | CA425410299 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364827T>C | CA425410298 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364827T>G | CA425410296 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364828G>A | CA346197178 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364828G>C | CA346197177 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364828G>T | CA346197175 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364829C>A | CA346197179 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364829C>G | CA346197180 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364829C>T | CA346197181 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364830T>A | CA425410304 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364830T>C | CA425410308 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364830T>G | CA425410306 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364830T= | CA1240242940 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364831G>A | CA346197182 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364831G>C | CA346197183 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364831G>T | CA346197184 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364832T>A | CA346197185 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364832T>C | CA346197187 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364832T>G | CA346197186 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364833C>A | CA425410310 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364833C= | CA1240242941 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364833C>G | CA425410314 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364833C>T | CA425410316 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364834C>A | CA346197189 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364834C>G | CA346197190 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364834C>T | CA346197191 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364835C>A | CA346197193 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364835C>G | CA346197194 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364835C>T | CA346197196 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364836T>A | CA425410320 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364836T>C | CA425410322 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364836T>G | CA425410323 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364837A= | CA1240242942 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364837A>C | CA346197198 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364837A>G | CA346197199 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364837A>T | CA346197201 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364838C>A | CA346197202 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364838C>G | CA346197204 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364838C>T | CA346197206 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364839C>A | CA425410325 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364839C= | CA1240242943 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364839C>G | CA425410326 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364839C>T | CA425410328 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364840C>A | CA346197208 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364840C>G | CA346197210 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364840C>T | CA346197207 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364841G>A | CA1576612 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364841G>C | CA346197213 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364841G= | CA1240242944 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364841G>T | CA1576613 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364842T>A | CA425410339 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364842T>C | CA425410340 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364842T>G | CA425410341 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364843G>A | CA346197215 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364843G>C | CA346197217 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364843G>T | CA346197218 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364844A>C | CA346197223 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364844A>G | CA346197220 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364844A>T | CA346197221 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364845C>A | CA346197225 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364845C>G | CA346197226 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364845C>T | CA346197227 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364846A>C | CA346197229 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364846A>G | CA346197230 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364846A>T | CA346197231 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364847T>A | CA346197234 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364847T>C | CA346197236 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364847T>G | CA346197235 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364848C>A | CA425410348 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364848C= | CA1240242945 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364848C>G | CA425410352 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364848C>T | CA425410353 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364849A>C | CA346197237 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364849A>G | CA346197238 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364849A>T | CA346197240 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364850C>A | CA346197242 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364850C= | CA1240242946 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364850C>G | CA346197243 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364850C>T | CA346197244 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364851A>C | CA425410357 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364851A>G | CA425410359 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364851A>T | CA425410358 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364851_27364852insTCACC | CA645539328 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364852G>A | CA346197246 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364852G>C | CA346197247 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364852G>T | CA346197248 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364853A>C | CA346197249 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364853A>G | CA346197250 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364853A>T | CA346197251 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364854C>A | CA425410364 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364854C= | CA1240242947 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364854C>G | CA425410367 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364854C>T | CA425410368 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364855C>A | CA346197254 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364855C>G | CA346197252 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364855C>T | CA346197253 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364856C>A | CA346197255 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364856C= | CA1240242948 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364856C>G | CA346197256 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364856C>T | CA346197257 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364857G>A | CA148784 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364857G>C | CA346197258 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364857G= | CA1240242949 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364857G>T | CA346197259 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364858T>A | CA346197260 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364858T>C | CA346197261 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364858T>G | CA346197262 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364859T>A | CA346197263 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364859T>C | CA346197265 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364859T>G | CA346197266 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364860G>A | CA1576614 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364860G>C | CA425410373 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364860G= | CA1240242950 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364860G>T | CA425410374 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364861G>A | CA346197270 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364861G>C | CA1576615 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364861G= | CA1240242951 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364861G>T | CA346197268 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364862C>A | CA346197271 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364862C>G | CA346197272 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364862C>T | CA346197273 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364863C>A | CA346197274 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364863C>G | CA346197276 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364863C>T | CA425410375 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364864A= | CA1240242952 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364864A>C | CA346197277 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364864A>G | CA346197279 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364864A>T | CA346197280 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364865A= | CA1240242953 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364865A>C | CA346197282 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364865A>G | CA44509722 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364865A>T | CA346197283 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364866G>A | CA425410385 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364866G>C | CA425410381 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364866G>T | CA425410382 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364867A>C | CA346197284 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364867A>G | CA346197286 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364867A>T | CA346197287 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364868G>A | CA346197290 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364868G>C | CA346197291 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364868G>T | CA346197289 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364869T>A | CA425410390 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364869T>C | CA425410391 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364869T>G | CA425410392 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364869T= | CA1240242954 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364870G>A | CA346197293 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364870G>C | CA346197296 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364870G= | CA1240242955 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364870G>T | CA346197295 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364871C>A | CA346197297 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364871C>G | CA346197298 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364871C>T | CA346197300 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364872A= | CA1240242956 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364872A>C | CA346197302 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364872A>G | CA1576616 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364872A>T | CA44509723 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364873T>A | CA346197306 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364873T>C | CA346197307 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364873T>G | CA346197309 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364874G>A | CA346197310 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364874G>C | CA346197312 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364874G>T | CA346197314 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364875A>C | CA425410400 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364875A>G | CA425410402 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364875A>T | CA425410403 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364876G>A | CA346197319 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364876G>C | CA346197316 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364876G>T | CA346197317 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364877C>A | CA346197321 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364877C>G | CA346197323 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364877C>T | CA346197324 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364878T>A | CA425410411 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364878T>C | CA425410413 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364878T>G | CA425410415 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364879C>A | CA346197326 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364879C>G | CA346197327 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364879C>T | CA346197329 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364880C>A | CA346197335 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364880C>G | CA346197336 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364880C>T | CA346197338 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364881C>A | CA346197341 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364881C>G | CA346197342 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364881C>T | CA425410417 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364882A>C | CA346197350 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364882A>G | CA346197347 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364882A>T | CA346197344 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364883A= | CA1240242957 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364883A>C | CA346197352 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364883A>G | CA425410421 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364883A>T | CA346197353 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364884T>A | CA425410424 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364884T>C | CA425410426 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364884T>G | CA425410429 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364884T= | CA1240242958 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364885A>C | CA346197354 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364885A>G | CA346197356 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364885A>T | CA346197358 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364886G>A | CA1576617 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364886G>C | CA346197361 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364886G= | CA1240242959 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364886G>T | CA346197363 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364887C>A | CA425410432 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364887C>G | CA425410433 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364887C>T | CA425410434 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364888A>C | CA346197365 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364888A>G | CA346197367 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364888A>T | CA346197368 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364889C>A | CA346197370 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364889C= | CA1240242960 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364889C>G | CA346197371 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364889C>T | CA1576618 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364890C>A | CA346197376 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364890C>G | CA346197378 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364890C>T | CA425410438 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364891T>A | CA346197380 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364891T>C | CA1576619 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364891T>G | CA346197383 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364891T= | CA1240242961 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364892T>A | CA346197384 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364892T>C | CA346197385 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364892T>G | CA346197387 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364893G>A | CA425410443 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364893G>C | CA425410444 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364893G>T | CA425410446 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364894del | CA2699012260 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364894G>A | CA1576620 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364894G>C | CA346197393 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364894G= | CA1240242962 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364894G>T | CA346197396 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364895A>C | CA346197398 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364895A>G | CA346197399 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364895A>T | CA346197401 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364896A>C | CA425410452 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364896A>G | CA425410453 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364896A>T | CA425410454 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364897A>C | CA346197405 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364897A>G | CA346197404 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364897A>T | CA346197403 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364898C>A | CA346197406 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364898C>G | CA346197408 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364898C>T | CA346197407 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364899C>A | CA346197409 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364899C>G | CA346197413 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364899C>T | CA346197411 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364900T>A | CA346197414 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364900T>C | CA346197420 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364900T>G | CA346197416 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364900_27364901insCTGGGAGCACATAGGAGGCTGCAGGAATCAGCAGGTAGGAGGCTGG | CA2699012475 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364902T>C | CA2576977110 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364903T>G | CA2739274255 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364907C>A | CA1240242965 | EIF2B4,GTF3C2-AS2 | c.1192-9G>T (n.1192-9G>T) c.*458-9G>T (n.*458-9G>T) c.1189-9G>T (n.1189-9G>T) c.1252-9G>T (n.1252-9G>T) n.176G>T c.1255-9G>T (n.1255-9G>T) c.1183-9G>T (n.1183-9G>T) c.1147-9G>T (n.1147-9G>T) c.1144-9G>T (n.1144-9G>T) c.574-9G>T (n.574-9G>T) n.1772-2517C>A c.1099-9G>T (n.1099-9G>T) c.607-9G>T (n.607-9G>T) | dbSNP |
2 | g.27364907C= | CA1240242964 | EIF2B4,GTF3C2-AS2 | c.1192-9G= (n.1192-9G=) c.*458-9G= (n.*458-9G=) c.1189-9G= (n.1189-9G=) c.1252-9G= (n.1252-9G=) n.176G= c.1255-9G= (n.1255-9G=) c.1183-9G= (n.1183-9G=) c.1147-9G= (n.1147-9G=) c.1144-9G= (n.1144-9G=) c.574-9G= (n.574-9G=) n.1772-2517C= c.1099-9G= (n.1099-9G=) c.607-9G= (n.607-9G=) | |
2 | g.27364907C>T | CA767375946 | EIF2B4,GTF3C2-AS2 | c.1192-9G>A (n.1192-9G>A) c.*458-9G>A (n.*458-9G>A) c.1189-9G>A (n.1189-9G>A) c.1252-9G>A (n.1252-9G>A) n.176G>A c.1255-9G>A (n.1255-9G>A) c.1183-9G>A (n.1183-9G>A) c.1147-9G>A (n.1147-9G>A) c.1144-9G>A (n.1144-9G>A) c.574-9G>A (n.574-9G>A) n.1772-2517C>T c.1099-9G>A (n.1099-9G>A) c.607-9G>A (n.607-9G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.27364907_27364910delinsCAGG | CA1240242963 | EIF2B4,GTF3C2-AS2 | c.1192-12_1192-9delinsCCTG (n.1192-12_1192-9delinsCCTG) c.*458-12_*458-9delinsCCTG (n.*458-12_*458-9delinsCCTG) c.1189-12_1189-9delinsCCTG (n.1189-12_1189-9delinsCCTG) c.1252-12_1252-9delinsCCTG (n.1252-12_1252-9delinsCCTG) n.173_176delinsCCTG c.1255-12_1255-9delinsCCTG (n.1255-12_1255-9delinsCCTG) c.1183-12_1183-9delinsCCTG (n.1183-12_1183-9delinsCCTG) c.1147-12_1147-9delinsCCTG (n.1147-12_1147-9delinsCCTG) c.1144-12_1144-9delinsCCTG (n.1144-12_1144-9delinsCCTG) c.574-12_574-9delinsCCTG (n.574-12_574-9delinsCCTG) n.1772-2517_1772-2514delinsCAGG c.1099-12_1099-9delinsCCTG (n.1099-12_1099-9delinsCCTG) c.607-12_607-9delinsCCTG (n.607-12_607-9delinsCCTG) | |
2 | g.27364908A>G | CA2658336182 | EIF2B4,GTF3C2-AS2 | c.1192-10T>C (n.1192-10T>C) c.*458-10T>C (n.*458-10T>C) c.1189-10T>C (n.1189-10T>C) c.1252-10T>C (n.1252-10T>C) n.175T>C c.1255-10T>C (n.1255-10T>C) c.1183-10T>C (n.1183-10T>C) c.1147-10T>C (n.1147-10T>C) c.1144-10T>C (n.1144-10T>C) c.574-10T>C (n.574-10T>C) n.1772-2516A>G c.1099-10T>C (n.1099-10T>C) c.607-10T>C (n.607-10T>C) | gnomAD v4 |
2 | g.27364910_27364912del | CA1576621 | EIF2B4,GTF3C2-AS2 | c.1192-12_1192-10del (n.1192-12_1192-10del) c.*458-12_*458-10del (n.*458-12_*458-10del) c.1189-12_1189-10del (n.1189-12_1189-10del) c.1252-12_1252-10del (n.1252-12_1252-10del) n.173_175del c.1255-12_1255-10del (n.1255-12_1255-10del) c.1183-12_1183-10del (n.1183-12_1183-10del) c.1147-12_1147-10del (n.1147-12_1147-10del) c.1144-12_1144-10del (n.1144-12_1144-10del) c.574-12_574-10del (n.574-12_574-10del) n.1772-2514_1772-2512del c.1099-12_1099-10del (n.1099-12_1099-10del) c.607-12_607-10del (n.607-12_607-10del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364909G>A | CA1576622 | EIF2B4,GTF3C2-AS2 | c.1192-11C>T (n.1192-11C>T) c.*458-11C>T (n.*458-11C>T) c.1189-11C>T (n.1189-11C>T) c.1252-11C>T (n.1252-11C>T) n.174C>T c.1255-11C>T (n.1255-11C>T) c.1183-11C>T (n.1183-11C>T) c.1147-11C>T (n.1147-11C>T) c.1144-11C>T (n.1144-11C>T) c.574-11C>T (n.574-11C>T) n.1772-2515G>A c.1099-11C>T (n.1099-11C>T) c.607-11C>T (n.607-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27364909G= | CA1240242966 | EIF2B4,GTF3C2-AS2 | c.1192-11C= (n.1192-11C=) c.*458-11C= (n.*458-11C=) c.1189-11C= (n.1189-11C=) c.1252-11C= (n.1252-11C=) n.174C= c.1255-11C= (n.1255-11C=) c.1183-11C= (n.1183-11C=) c.1147-11C= (n.1147-11C=) c.1144-11C= (n.1144-11C=) c.574-11C= (n.574-11C=) n.1772-2515G= c.1099-11C= (n.1099-11C=) c.607-11C= (n.607-11C=) |