UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.224503759C>A | CA350827535 | CUL3 | c.1270G>T (p.Glu424Ter) c.1072G>T (p.Glu358Ter) c.1198G>T (p.Glu400Ter) n.566G>T c.-7G>T (n.-7G>T) c.1288G>T (p.Glu430Ter) c.1237G>T (p.Glu413Ter) c.1123G>T (p.Glu375Ter) c.1228G>T (p.Glu410Ter) c.1078G>T (p.Glu360Ter) c.970G>T (p.Glu324Ter) | dbSNP |
| 2 | g.224503759C>G | CA350827536 | CUL3 | c.1270G>C (p.Glu424Gln) c.1072G>C (p.Glu358Gln) c.1198G>C (p.Glu400Gln) n.566G>C c.-7G>C (n.-7G>C) c.1288G>C (p.Glu430Gln) c.1237G>C (p.Glu413Gln) c.1123G>C (p.Glu375Gln) c.1228G>C (p.Glu410Gln) c.1078G>C (p.Glu360Gln) c.970G>C (p.Glu324Gln) | dbSNP |
| 2 | g.224503759C>T | CA350827537 | CUL3 | c.1270G>A (p.Glu424Lys) c.1072G>A (p.Glu358Lys) c.1198G>A (p.Glu400Lys) n.566G>A c.-7G>A (n.-7G>A) c.1288G>A (p.Glu430Lys) c.1237G>A (p.Glu413Lys) c.1123G>A (p.Glu375Lys) c.1228G>A (p.Glu410Lys) c.1078G>A (p.Glu360Lys) c.970G>A (p.Glu324Lys) | dbSNP |
| 2 | g.224503760T>A | CA350827538 | CUL3 | c.1269A>T (p.Gln423His) c.1071A>T (p.Gln357His) c.1197A>T (p.Gln399His) n.565A>T c.-8A>T (n.-8A>T) c.1287A>T (p.Gln429His) c.1236A>T (p.Gln412His) c.1122A>T (p.Gln374His) c.1227A>T (p.Gln409His) c.1077A>T (p.Gln359His) c.969A>T (p.Gln323His) | |
| 2 | g.224503760T>C | CA431492703 | CUL3 | c.1269A>G (p.Gln423=) c.1071A>G (p.Gln357=) c.1197A>G (p.Gln399=) n.565A>G c.-8A>G (n.-8A>G) c.1287A>G (p.Gln429=) c.1236A>G (p.Gln412=) c.1122A>G (p.Gln374=) c.1227A>G (p.Gln409=) c.1077A>G (p.Gln359=) c.969A>G (p.Gln323=) | |
| 2 | g.224503760T>G | CA350827539 | CUL3 | c.1269A>C (p.Gln423His) c.1071A>C (p.Gln357His) c.1197A>C (p.Gln399His) n.565A>C c.-8A>C (n.-8A>C) c.1287A>C (p.Gln429His) c.1236A>C (p.Gln412His) c.1122A>C (p.Gln374His) c.1227A>C (p.Gln409His) c.1077A>C (p.Gln359His) c.969A>C (p.Gln323His) | |
| 2 | g.224503761T>A | CA350827540 | CUL3 | c.1268A>T (p.Gln423Leu) c.1070A>T (p.Gln357Leu) c.1196A>T (p.Gln399Leu) n.564A>T c.-9A>T (n.-9A>T) c.1286A>T (p.Gln429Leu) c.1235A>T (p.Gln412Leu) c.1121A>T (p.Gln374Leu) c.1226A>T (p.Gln409Leu) c.1076A>T (p.Gln359Leu) c.968A>T (p.Gln323Leu) | dbSNP |
| 2 | g.224503761T>C | CA350827542 | CUL3 | c.1268A>G (p.Gln423Arg) c.1070A>G (p.Gln357Arg) c.1196A>G (p.Gln399Arg) n.564A>G c.-9A>G (n.-9A>G) c.1286A>G (p.Gln429Arg) c.1235A>G (p.Gln412Arg) c.1121A>G (p.Gln374Arg) c.1226A>G (p.Gln409Arg) c.1076A>G (p.Gln359Arg) c.968A>G (p.Gln323Arg) | dbSNP |
| 2 | g.224503761T>G | CA350827541 | CUL3 | c.1268A>C (p.Gln423Pro) c.1070A>C (p.Gln357Pro) c.1196A>C (p.Gln399Pro) n.564A>C c.-9A>C (n.-9A>C) c.1286A>C (p.Gln429Pro) c.1235A>C (p.Gln412Pro) c.1121A>C (p.Gln374Pro) c.1226A>C (p.Gln409Pro) c.1076A>C (p.Gln359Pro) c.968A>C (p.Gln323Pro) | |
| 2 | g.224503762G>A | CA350827543 | CUL3 | c.1267C>T (p.Gln423Ter) c.1069C>T (p.Gln357Ter) c.1195C>T (p.Gln399Ter) n.563C>T c.-10C>T (n.-10C>T) c.1285C>T (p.Gln429Ter) c.1234C>T (p.Gln412Ter) c.1120C>T (p.Gln374Ter) c.1225C>T (p.Gln409Ter) c.1075C>T (p.Gln359Ter) c.967C>T (p.Gln323Ter) | dbSNP gnomAD v4 |
| 2 | g.224503762G>C | CA350827545 | CUL3 | c.1267C>G (p.Gln423Glu) c.1069C>G (p.Gln357Glu) c.1195C>G (p.Gln399Glu) n.563C>G c.-10C>G (n.-10C>G) c.1285C>G (p.Gln429Glu) c.1234C>G (p.Gln412Glu) c.1120C>G (p.Gln374Glu) c.1225C>G (p.Gln409Glu) c.1075C>G (p.Gln359Glu) c.967C>G (p.Gln323Glu) | dbSNP |
| 2 | g.224503762G>T | CA350827544 | CUL3 | c.1267C>A (p.Gln423Lys) c.1069C>A (p.Gln357Lys) c.1195C>A (p.Gln399Lys) n.563C>A c.-10C>A (n.-10C>A) c.1285C>A (p.Gln429Lys) c.1234C>A (p.Gln412Lys) c.1120C>A (p.Gln374Lys) c.1225C>A (p.Gln409Lys) c.1075C>A (p.Gln359Lys) c.967C>A (p.Gln323Lys) | gnomAD v4 |
| 2 | g.224503763C>A | CA350827546 | CUL3 | c.1266G>T (p.Met422Ile) c.1068G>T (p.Met356Ile) c.1194G>T (p.Met398Ile) n.562G>T c.-11G>T (n.-11G>T) c.1284G>T (p.Met428Ile) c.1233G>T (p.Met411Ile) c.1119G>T (p.Met373Ile) c.1224G>T (p.Met408Ile) c.1074G>T (p.Met358Ile) c.966G>T (p.Met322Ile) | dbSNP |
| 2 | g.224503763C>G | CA350827547 | CUL3 | c.1266G>C (p.Met422Ile) c.1068G>C (p.Met356Ile) c.1194G>C (p.Met398Ile) n.562G>C c.-11G>C (n.-11G>C) c.1284G>C (p.Met428Ile) c.1233G>C (p.Met411Ile) c.1119G>C (p.Met373Ile) c.1224G>C (p.Met408Ile) c.1074G>C (p.Met358Ile) c.966G>C (p.Met322Ile) | dbSNP |
| 2 | g.224503763C>T | CA350827548 | CUL3 | c.1266G>A (p.Met422Ile) c.1068G>A (p.Met356Ile) c.1194G>A (p.Met398Ile) n.562G>A c.-11G>A (n.-11G>A) c.1284G>A (p.Met428Ile) c.1233G>A (p.Met411Ile) c.1119G>A (p.Met373Ile) c.1224G>A (p.Met408Ile) c.1074G>A (p.Met358Ile) c.966G>A (p.Met322Ile) | dbSNP gnomAD v4 |
| 2 | g.224503764A>C | CA350827549 | CUL3 | c.1265T>G (p.Met422Arg) c.1067T>G (p.Met356Arg) c.1193T>G (p.Met398Arg) n.561T>G c.-12T>G (n.-12T>G) c.1283T>G (p.Met428Arg) c.1232T>G (p.Met411Arg) c.1118T>G (p.Met373Arg) c.1223T>G (p.Met408Arg) c.1073T>G (p.Met358Arg) c.965T>G (p.Met322Arg) | |
| 2 | g.224503764A>G | CA350827550 | CUL3 | c.1265T>C (p.Met422Thr) c.1067T>C (p.Met356Thr) c.1193T>C (p.Met398Thr) n.561T>C c.-12T>C (n.-12T>C) c.1283T>C (p.Met428Thr) c.1232T>C (p.Met411Thr) c.1118T>C (p.Met373Thr) c.1223T>C (p.Met408Thr) c.1073T>C (p.Met358Thr) c.965T>C (p.Met322Thr) | |
| 2 | g.224503764A>T | CA350827551 | CUL3 | c.1265T>A (p.Met422Lys) c.1067T>A (p.Met356Lys) c.1193T>A (p.Met398Lys) n.561T>A c.-12T>A (n.-12T>A) c.1283T>A (p.Met428Lys) c.1232T>A (p.Met411Lys) c.1118T>A (p.Met373Lys) c.1223T>A (p.Met408Lys) c.1073T>A (p.Met358Lys) c.965T>A (p.Met322Lys) | dbSNP |
| 2 | g.224503765T>A | CA350827552 | CUL3 | c.1264A>T (p.Met422Leu) c.1066A>T (p.Met356Leu) c.1192A>T (p.Met398Leu) n.560A>T c.-13A>T (n.-13A>T) c.1282A>T (p.Met428Leu) c.1231A>T (p.Met411Leu) c.1117A>T (p.Met373Leu) c.1222A>T (p.Met408Leu) c.1072A>T (p.Met358Leu) c.964A>T (p.Met322Leu) | |
| 2 | g.224503765T>C | CA350827553 | CUL3 | c.1264A>G (p.Met422Val) c.1066A>G (p.Met356Val) c.1192A>G (p.Met398Val) n.560A>G c.-13A>G (n.-13A>G) c.1282A>G (p.Met428Val) c.1231A>G (p.Met411Val) c.1117A>G (p.Met373Val) c.1222A>G (p.Met408Val) c.1072A>G (p.Met358Val) c.964A>G (p.Met322Val) | |
| 2 | g.224503765T>G | CA350827554 | CUL3 | c.1264A>C (p.Met422Leu) c.1066A>C (p.Met356Leu) c.1192A>C (p.Met398Leu) n.560A>C c.-13A>C (n.-13A>C) c.1282A>C (p.Met428Leu) c.1231A>C (p.Met411Leu) c.1117A>C (p.Met373Leu) c.1222A>C (p.Met408Leu) c.1072A>C (p.Met358Leu) c.964A>C (p.Met322Leu) | ClinVar |
| 2 | g.224503766A= | CA1331555949 | CUL3 | c.1263T= (p.Phe421=) c.1065T= (p.Phe355=) c.1191T= (p.Phe397=) n.559T= c.-14T= (n.-14T=) c.1281T= (p.Phe427=) c.1230T= (p.Phe410=) c.1116T= (p.Phe372=) c.1221T= (p.Phe407=) c.1071T= (p.Phe357=) c.963T= (p.Phe321=) | |
| 2 | g.224503766A>C | CA2140020 | CUL3 | c.1263T>G (p.Phe421Leu) c.1065T>G (p.Phe355Leu) c.1191T>G (p.Phe397Leu) n.559T>G c.-14T>G (n.-14T>G) c.1281T>G (p.Phe427Leu) c.1230T>G (p.Phe410Leu) c.1116T>G (p.Phe372Leu) c.1221T>G (p.Phe407Leu) c.1071T>G (p.Phe357Leu) c.963T>G (p.Phe321Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.224503766A>G | CA431492707 | CUL3 | c.1263T>C (p.Phe421=) c.1065T>C (p.Phe355=) c.1191T>C (p.Phe397=) n.559T>C c.-14T>C (n.-14T>C) c.1281T>C (p.Phe427=) c.1230T>C (p.Phe410=) c.1116T>C (p.Phe372=) c.1221T>C (p.Phe407=) c.1071T>C (p.Phe357=) c.963T>C (p.Phe321=) | dbSNP |
| 2 | g.224503766A>T | CA350827555 | CUL3 | c.1263T>A (p.Phe421Leu) c.1065T>A (p.Phe355Leu) c.1191T>A (p.Phe397Leu) n.559T>A c.-14T>A (n.-14T>A) c.1281T>A (p.Phe427Leu) c.1230T>A (p.Phe410Leu) c.1116T>A (p.Phe372Leu) c.1221T>A (p.Phe407Leu) c.1071T>A (p.Phe357Leu) c.963T>A (p.Phe321Leu) | dbSNP COSMIC |
| 2 | g.224503767A= | CA1331555950 | CUL3 | c.1262T= (p.Phe421=) c.1064T= (p.Phe355=) c.1190T= (p.Phe397=) n.558T= c.-15T= (n.-15T=) c.1280T= (p.Phe427=) c.1229T= (p.Phe410=) c.1115T= (p.Phe372=) c.1220T= (p.Phe407=) c.1070T= (p.Phe357=) c.962T= (p.Phe321=) | |
| 2 | g.224503767A>C | CA350827558 | CUL3 | c.1262T>G (p.Phe421Cys) c.1064T>G (p.Phe355Cys) c.1190T>G (p.Phe397Cys) n.558T>G c.-15T>G (n.-15T>G) c.1280T>G (p.Phe427Cys) c.1229T>G (p.Phe410Cys) c.1115T>G (p.Phe372Cys) c.1220T>G (p.Phe407Cys) c.1070T>G (p.Phe357Cys) c.962T>G (p.Phe321Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.224503767A>G | CA350827556 | CUL3 | c.1262T>C (p.Phe421Ser) c.1064T>C (p.Phe355Ser) c.1190T>C (p.Phe397Ser) n.558T>C c.-15T>C (n.-15T>C) c.1280T>C (p.Phe427Ser) c.1229T>C (p.Phe410Ser) c.1115T>C (p.Phe372Ser) c.1220T>C (p.Phe407Ser) c.1070T>C (p.Phe357Ser) c.962T>C (p.Phe321Ser) | dbSNP |
| 2 | g.224503767A>T | CA350827557 | CUL3 | c.1262T>A (p.Phe421Tyr) c.1064T>A (p.Phe355Tyr) c.1190T>A (p.Phe397Tyr) n.558T>A c.-15T>A (n.-15T>A) c.1280T>A (p.Phe427Tyr) c.1229T>A (p.Phe410Tyr) c.1115T>A (p.Phe372Tyr) c.1220T>A (p.Phe407Tyr) c.1070T>A (p.Phe357Tyr) c.962T>A (p.Phe321Tyr) | dbSNP |
| 2 | g.224503768A>C | CA350827561 | CUL3 | c.1261T>G (p.Phe421Val) c.1063T>G (p.Phe355Val) c.1189T>G (p.Phe397Val) n.557T>G c.-16T>G (n.-16T>G) c.1279T>G (p.Phe427Val) c.1228T>G (p.Phe410Val) c.1114T>G (p.Phe372Val) c.1219T>G (p.Phe407Val) c.1069T>G (p.Phe357Val) c.961T>G (p.Phe321Val) | dbSNP |
| 2 | g.224503768A>G | CA350827562 | CUL3 | c.1261T>C (p.Phe421Leu) c.1063T>C (p.Phe355Leu) c.1189T>C (p.Phe397Leu) n.557T>C c.-16T>C (n.-16T>C) c.1279T>C (p.Phe427Leu) c.1228T>C (p.Phe410Leu) c.1114T>C (p.Phe372Leu) c.1219T>C (p.Phe407Leu) c.1069T>C (p.Phe357Leu) c.961T>C (p.Phe321Leu) | dbSNP |
| 2 | g.224503768A>T | CA350827564 | CUL3 | c.1261T>A (p.Phe421Ile) c.1063T>A (p.Phe355Ile) c.1189T>A (p.Phe397Ile) n.557T>A c.-16T>A (n.-16T>A) c.1279T>A (p.Phe427Ile) c.1228T>A (p.Phe410Ile) c.1114T>A (p.Phe372Ile) c.1219T>A (p.Phe407Ile) c.1069T>A (p.Phe357Ile) c.961T>A (p.Phe321Ile) | dbSNP |
| 2 | g.224503769C>A | CA350827565 | CUL3 | c.1260G>T (p.Arg420Ser) c.1062G>T (p.Arg354Ser) c.1188G>T (p.Arg396Ser) n.556G>T c.-17G>T (n.-17G>T) c.1278G>T (p.Arg426Ser) c.1227G>T (p.Arg409Ser) c.1113G>T (p.Arg371Ser) c.1218G>T (p.Arg406Ser) c.1068G>T (p.Arg356Ser) c.960G>T (p.Arg320Ser) | dbSNP |
| 2 | g.224503769C>G | CA350827567 | CUL3 | c.1260G>C (p.Arg420Ser) c.1062G>C (p.Arg354Ser) c.1188G>C (p.Arg396Ser) n.556G>C c.-17G>C (n.-17G>C) c.1278G>C (p.Arg426Ser) c.1227G>C (p.Arg409Ser) c.1113G>C (p.Arg371Ser) c.1218G>C (p.Arg406Ser) c.1068G>C (p.Arg356Ser) c.960G>C (p.Arg320Ser) | dbSNP |
| 2 | g.224503769C>T | CA431492708 | CUL3 | c.1260G>A (p.Arg420=) c.1062G>A (p.Arg354=) c.1188G>A (p.Arg396=) n.556G>A c.-17G>A (n.-17G>A) c.1278G>A (p.Arg426=) c.1227G>A (p.Arg409=) c.1113G>A (p.Arg371=) c.1218G>A (p.Arg406=) c.1068G>A (p.Arg356=) c.960G>A (p.Arg320=) | dbSNP gnomAD v4 |
| 2 | g.224503770C>A | CA350827570 | CUL3 | c.1259G>T (p.Arg420Met) c.1061G>T (p.Arg354Met) c.1187G>T (p.Arg396Met) n.555G>T c.-18G>T (n.-18G>T) c.1277G>T (p.Arg426Met) c.1226G>T (p.Arg409Met) c.1112G>T (p.Arg371Met) c.1217G>T (p.Arg406Met) c.1067G>T (p.Arg356Met) c.959G>T (p.Arg320Met) | dbSNP |
| 2 | g.224503770C>G | CA350827571 | CUL3 | c.1259G>C (p.Arg420Thr) c.1061G>C (p.Arg354Thr) c.1187G>C (p.Arg396Thr) n.555G>C c.-18G>C (n.-18G>C) c.1277G>C (p.Arg426Thr) c.1226G>C (p.Arg409Thr) c.1112G>C (p.Arg371Thr) c.1217G>C (p.Arg406Thr) c.1067G>C (p.Arg356Thr) c.959G>C (p.Arg320Thr) | dbSNP |
| 2 | g.224503770C>T | CA350827573 | CUL3 | c.1259G>A (p.Arg420Lys) c.1061G>A (p.Arg354Lys) c.1187G>A (p.Arg396Lys) n.555G>A c.-18G>A (n.-18G>A) c.1277G>A (p.Arg426Lys) c.1226G>A (p.Arg409Lys) c.1112G>A (p.Arg371Lys) c.1217G>A (p.Arg406Lys) c.1067G>A (p.Arg356Lys) c.959G>A (p.Arg320Lys) | dbSNP |
| 2 | g.224503771T>A | CA350827575 | CUL3 | c.1258A>T (p.Arg420Trp) c.1060A>T (p.Arg354Trp) c.1186A>T (p.Arg396Trp) n.554A>T c.-19A>T (n.-19A>T) c.1276A>T (p.Arg426Trp) c.1225A>T (p.Arg409Trp) c.1111A>T (p.Arg371Trp) c.1216A>T (p.Arg406Trp) c.1066A>T (p.Arg356Trp) c.958A>T (p.Arg320Trp) | |
| 2 | g.224503771T>C | CA350827577 | CUL3 | c.1258A>G (p.Arg420Gly) c.1060A>G (p.Arg354Gly) c.1186A>G (p.Arg396Gly) n.554A>G c.-19A>G (n.-19A>G) c.1276A>G (p.Arg426Gly) c.1225A>G (p.Arg409Gly) c.1111A>G (p.Arg371Gly) c.1216A>G (p.Arg406Gly) c.1066A>G (p.Arg356Gly) c.958A>G (p.Arg320Gly) | gnomAD v4 |
| 2 | g.224503771T>G | CA431492710 | CUL3 | c.1258A>C (p.Arg420=) c.1060A>C (p.Arg354=) c.1186A>C (p.Arg396=) n.554A>C c.-19A>C (n.-19A>C) c.1276A>C (p.Arg426=) c.1225A>C (p.Arg409=) c.1111A>C (p.Arg371=) c.1216A>C (p.Arg406=) c.1066A>C (p.Arg356=) c.958A>C (p.Arg320=) | |
| 2 | g.224503772A= | CA1331555951 | CUL3 | c.1257T= (p.Phe419=) c.1059T= (p.Phe353=) c.1185T= (p.Phe395=) n.553T= c.-20T= (n.-20T=) c.1275T= (p.Phe425=) c.1224T= (p.Phe408=) c.1110T= (p.Phe370=) c.1215T= (p.Phe405=) c.1065T= (p.Phe355=) c.957T= (p.Phe319=) | |
| 2 | g.224503772A>C | CA350827583 | CUL3 | c.1257T>G (p.Phe419Leu) c.1059T>G (p.Phe353Leu) c.1185T>G (p.Phe395Leu) n.553T>G c.-20T>G (n.-20T>G) c.1275T>G (p.Phe425Leu) c.1224T>G (p.Phe408Leu) c.1110T>G (p.Phe370Leu) c.1215T>G (p.Phe405Leu) c.1065T>G (p.Phe355Leu) c.957T>G (p.Phe319Leu) | |
| 2 | g.224503772A>G | CA66534323 | CUL3 | c.1257T>C (p.Phe419=) c.1059T>C (p.Phe353=) c.1185T>C (p.Phe395=) n.553T>C c.-20T>C (n.-20T>C) c.1275T>C (p.Phe425=) c.1224T>C (p.Phe408=) c.1110T>C (p.Phe370=) c.1215T>C (p.Phe405=) c.1065T>C (p.Phe355=) c.957T>C (p.Phe319=) | dbSNP gnomAD v4 |
| 2 | g.224503772A>T | CA350827580 | CUL3 | c.1257T>A (p.Phe419Leu) c.1059T>A (p.Phe353Leu) c.1185T>A (p.Phe395Leu) n.553T>A c.-20T>A (n.-20T>A) c.1275T>A (p.Phe425Leu) c.1224T>A (p.Phe408Leu) c.1110T>A (p.Phe370Leu) c.1215T>A (p.Phe405Leu) c.1065T>A (p.Phe355Leu) c.957T>A (p.Phe319Leu) | |
| 2 | g.224503776del | CA2663372489 | CUL3 | c.1257del (p.Phe419LeufsTer?) c.1059del (p.Phe353LeufsTer?) c.1185del (p.Phe395LeufsTer?) n.553del c.-20del (n.-20del) c.1275del (p.Phe425LeufsTer?) c.1224del (p.Phe408LeufsTer?) c.1110del (p.Phe370LeufsTer?) c.1215del (p.Phe405LeufsTer?) c.1065del (p.Phe355LeufsTer?) c.957del (p.Phe319LeufsTer?) | gnomAD v4 |
| 2 | g.224503775_224503776del | CA2701739853 | CUL3 | c.1256_1257del (p.Phe419Ter) c.1058_1059del (p.Phe353Ter) c.1184_1185del (p.Phe395Ter) n.552_553del c.-21_-20del (n.-21_-20del) c.1274_1275del (p.Phe425Ter) c.1223_1224del (p.Phe408Ter) c.1109_1110del (p.Phe370Ter) c.1214_1215del (p.Phe405Ter) c.1064_1065del (p.Phe355Ter) c.956_957del (p.Phe319Ter) | dbSNP |
| 2 | g.224503773A>C | CA350827586 | CUL3 | c.1256T>G (p.Phe419Cys) c.1058T>G (p.Phe353Cys) c.1184T>G (p.Phe395Cys) n.552T>G c.-21T>G (n.-21T>G) c.1274T>G (p.Phe425Cys) c.1223T>G (p.Phe408Cys) c.1109T>G (p.Phe370Cys) c.1214T>G (p.Phe405Cys) c.1064T>G (p.Phe355Cys) c.956T>G (p.Phe319Cys) | |
| 2 | g.224503773A>G | CA350827587 | CUL3 | c.1256T>C (p.Phe419Ser) c.1058T>C (p.Phe353Ser) c.1184T>C (p.Phe395Ser) n.552T>C c.-21T>C (n.-21T>C) c.1274T>C (p.Phe425Ser) c.1223T>C (p.Phe408Ser) c.1109T>C (p.Phe370Ser) c.1214T>C (p.Phe405Ser) c.1064T>C (p.Phe355Ser) c.956T>C (p.Phe319Ser) | |
| 2 | g.224503773A>T | CA350827589 | CUL3 | c.1256T>A (p.Phe419Tyr) c.1058T>A (p.Phe353Tyr) c.1184T>A (p.Phe395Tyr) n.552T>A c.-21T>A (n.-21T>A) c.1274T>A (p.Phe425Tyr) c.1223T>A (p.Phe408Tyr) c.1109T>A (p.Phe370Tyr) c.1214T>A (p.Phe405Tyr) c.1064T>A (p.Phe355Tyr) c.956T>A (p.Phe319Tyr) |