| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.224503750C>A | CA350827504 | CUL3 | c.1279G>T (p.Val427Leu) c.1081G>T (p.Val361Leu) c.1207G>T (p.Val403Leu) n.575G>T c.3G>T (p.Met1Ile) c.1297G>T (p.Val433Leu) c.1246G>T (p.Val416Leu) c.1132G>T (p.Val378Leu) c.1237G>T (p.Val413Leu) c.1087G>T (p.Val363Leu) c.979G>T (p.Val327Leu) | |
| 2 | g.224503750C>G | CA350827506 | CUL3 | c.1279G>C (p.Val427Leu) c.1081G>C (p.Val361Leu) c.1207G>C (p.Val403Leu) n.575G>C c.3G>C (p.Met1Ile) c.1297G>C (p.Val433Leu) c.1246G>C (p.Val416Leu) c.1132G>C (p.Val378Leu) c.1237G>C (p.Val413Leu) c.1087G>C (p.Val363Leu) c.979G>C (p.Val327Leu) | dbSNP |
| 2 | g.224503750C>T | CA350827505 | CUL3 | c.1279G>A (p.Val427Ile) c.1081G>A (p.Val361Ile) c.1207G>A (p.Val403Ile) n.575G>A c.3G>A (p.Met1Ile) c.1297G>A (p.Val433Ile) c.1246G>A (p.Val416Ile) c.1132G>A (p.Val378Ile) c.1237G>A (p.Val413Ile) c.1087G>A (p.Val363Ile) c.979G>A (p.Val327Ile) | dbSNP |
| 2 | g.224503751A= | CA1331555948 | CUL3 | c.1278T= (p.Asp426=) c.1080T= (p.Asp360=) c.1206T= (p.Asp402=) n.574T= c.2T= (p.Met1=) c.1296T= (p.Asp432=) c.1245T= (p.Asp415=) c.1131T= (p.Asp377=) c.1236T= (p.Asp412=) c.1086T= (p.Asp362=) c.978T= (p.Asp326=) | |
| 2 | g.224503751A>C | CA350827508 | CUL3 | c.1278T>G (p.Asp426Glu) c.1080T>G (p.Asp360Glu) c.1206T>G (p.Asp402Glu) n.574T>G c.2T>G (p.Met1Arg) c.1296T>G (p.Asp432Glu) c.1245T>G (p.Asp415Glu) c.1131T>G (p.Asp377Glu) c.1236T>G (p.Asp412Glu) c.1086T>G (p.Asp362Glu) c.978T>G (p.Asp326Glu) | |
| 2 | g.224503751A>G | CA350827510 | CUL3 | c.1278T>C (p.Asp426=) c.1080T>C (p.Asp360=) c.1206T>C (p.Asp402=) n.574T>C c.2T>C (p.Met1Thr) c.1296T>C (p.Asp432=) c.1245T>C (p.Asp415=) c.1131T>C (p.Asp377=) c.1236T>C (p.Asp412=) c.1086T>C (p.Asp362=) c.978T>C (p.Asp326=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.224503751A>T | CA350827512 | CUL3 | c.1278T>A (p.Asp426Glu) c.1080T>A (p.Asp360Glu) c.1206T>A (p.Asp402Glu) n.574T>A c.2T>A (p.Met1Lys) c.1296T>A (p.Asp432Glu) c.1245T>A (p.Asp415Glu) c.1131T>A (p.Asp377Glu) c.1236T>A (p.Asp412Glu) c.1086T>A (p.Asp362Glu) c.978T>A (p.Asp326Glu) | dbSNP |
| 2 | g.224503752T>A | CA350827514 | CUL3 | c.1277A>T (p.Asp426Val) c.1079A>T (p.Asp360Val) c.1205A>T (p.Asp402Val) n.573A>T c.1A>T (p.Met1Leu) c.1295A>T (p.Asp432Val) c.1244A>T (p.Asp415Val) c.1130A>T (p.Asp377Val) c.1235A>T (p.Asp412Val) c.1085A>T (p.Asp362Val) c.977A>T (p.Asp326Val) | |
| 2 | g.224503752T>C | CA350827515 | CUL3 | c.1277A>G (p.Asp426Gly) c.1079A>G (p.Asp360Gly) c.1205A>G (p.Asp402Gly) n.573A>G c.1A>G (p.Met1Val) c.1295A>G (p.Asp432Gly) c.1244A>G (p.Asp415Gly) c.1130A>G (p.Asp377Gly) c.1235A>G (p.Asp412Gly) c.1085A>G (p.Asp362Gly) c.977A>G (p.Asp326Gly) | |
| 2 | g.224503752T>G | CA350827518 | CUL3 | c.1277A>C (p.Asp426Ala) c.1079A>C (p.Asp360Ala) c.1205A>C (p.Asp402Ala) n.573A>C c.1A>C (p.Met1Leu) c.1295A>C (p.Asp432Ala) c.1244A>C (p.Asp415Ala) c.1130A>C (p.Asp377Ala) c.1235A>C (p.Asp412Ala) c.1085A>C (p.Asp362Ala) c.977A>C (p.Asp326Ala) | |
| 2 | g.224503753C>A | CA350827521 | CUL3 | c.1276G>T (p.Asp426Tyr) c.1078G>T (p.Asp360Tyr) c.1204G>T (p.Asp402Tyr) n.572G>T c.-1G>T (n.-1G>T) c.1294G>T (p.Asp432Tyr) c.1243G>T (p.Asp415Tyr) c.1129G>T (p.Asp377Tyr) c.1234G>T (p.Asp412Tyr) c.1084G>T (p.Asp362Tyr) c.976G>T (p.Asp326Tyr) | gnomAD v4 |
| 2 | g.224503753C>G | CA350827519 | CUL3 | c.1276G>C (p.Asp426His) c.1078G>C (p.Asp360His) c.1204G>C (p.Asp402His) n.572G>C c.-1G>C (n.-1G>C) c.1294G>C (p.Asp432His) c.1243G>C (p.Asp415His) c.1129G>C (p.Asp377His) c.1234G>C (p.Asp412His) c.1084G>C (p.Asp362His) c.976G>C (p.Asp326His) | dbSNP COSMIC |
| 2 | g.224503753C>T | CA350827520 | CUL3 | c.1276G>A (p.Asp426Asn) c.1078G>A (p.Asp360Asn) c.1204G>A (p.Asp402Asn) n.572G>A c.-1G>A (n.-1G>A) c.1294G>A (p.Asp432Asn) c.1243G>A (p.Asp415Asn) c.1129G>A (p.Asp377Asn) c.1234G>A (p.Asp412Asn) c.1084G>A (p.Asp362Asn) c.976G>A (p.Asp326Asn) | dbSNP |
| 2 | g.224503754T>A | CA350827522 | CUL3 | c.1275A>T (p.Lys425Asn) c.1077A>T (p.Lys359Asn) c.1203A>T (p.Lys401Asn) n.571A>T c.-2A>T (n.-2A>T) c.1293A>T (p.Lys431Asn) c.1242A>T (p.Lys414Asn) c.1128A>T (p.Lys376Asn) c.1233A>T (p.Lys411Asn) c.1083A>T (p.Lys361Asn) c.975A>T (p.Lys325Asn) | |
| 2 | g.224503754T>C | CA431492701 | CUL3 | c.1275A>G (p.Lys425=) c.1077A>G (p.Lys359=) c.1203A>G (p.Lys401=) n.571A>G c.-2A>G (n.-2A>G) c.1293A>G (p.Lys431=) c.1242A>G (p.Lys414=) c.1128A>G (p.Lys376=) c.1233A>G (p.Lys411=) c.1083A>G (p.Lys361=) c.975A>G (p.Lys325=) | dbSNP |
| 2 | g.224503754T>G | CA350827523 | CUL3 | c.1275A>C (p.Lys425Asn) c.1077A>C (p.Lys359Asn) c.1203A>C (p.Lys401Asn) n.571A>C c.-2A>C (n.-2A>C) c.1293A>C (p.Lys431Asn) c.1242A>C (p.Lys414Asn) c.1128A>C (p.Lys376Asn) c.1233A>C (p.Lys411Asn) c.1083A>C (p.Lys361Asn) c.975A>C (p.Lys325Asn) | |
| 2 | g.224503755T>A | CA350827524 | CUL3 | c.1274A>T (p.Lys425Ile) c.1076A>T (p.Lys359Ile) c.1202A>T (p.Lys401Ile) n.570A>T c.-3A>T (n.-3A>T) c.1292A>T (p.Lys431Ile) c.1241A>T (p.Lys414Ile) c.1127A>T (p.Lys376Ile) c.1232A>T (p.Lys411Ile) c.1082A>T (p.Lys361Ile) c.974A>T (p.Lys325Ile) | |
| 2 | g.224503755T>C | CA350827525 | CUL3 | c.1274A>G (p.Lys425Arg) c.1076A>G (p.Lys359Arg) c.1202A>G (p.Lys401Arg) n.570A>G c.-3A>G (n.-3A>G) c.1292A>G (p.Lys431Arg) c.1241A>G (p.Lys414Arg) c.1127A>G (p.Lys376Arg) c.1232A>G (p.Lys411Arg) c.1082A>G (p.Lys361Arg) c.974A>G (p.Lys325Arg) | |
| 2 | g.224503755T>G | CA350827526 | CUL3 | c.1274A>C (p.Lys425Thr) c.1076A>C (p.Lys359Thr) c.1202A>C (p.Lys401Thr) n.570A>C c.-3A>C (n.-3A>C) c.1292A>C (p.Lys431Thr) c.1241A>C (p.Lys414Thr) c.1127A>C (p.Lys376Thr) c.1232A>C (p.Lys411Thr) c.1082A>C (p.Lys361Thr) c.974A>C (p.Lys325Thr) | |
| 2 | g.224503756T>A | CA350827527 | CUL3 | c.1273A>T (p.Lys425Ter) c.1075A>T (p.Lys359Ter) c.1201A>T (p.Lys401Ter) n.569A>T c.-4A>T (n.-4A>T) c.1291A>T (p.Lys431Ter) c.1240A>T (p.Lys414Ter) c.1126A>T (p.Lys376Ter) c.1231A>T (p.Lys411Ter) c.1081A>T (p.Lys361Ter) c.973A>T (p.Lys325Ter) | |
| 2 | g.224503756T>C | CA350827529 | CUL3 | c.1273A>G (p.Lys425Glu) c.1075A>G (p.Lys359Glu) c.1201A>G (p.Lys401Glu) n.569A>G c.-4A>G (n.-4A>G) c.1291A>G (p.Lys431Glu) c.1240A>G (p.Lys414Glu) c.1126A>G (p.Lys376Glu) c.1231A>G (p.Lys411Glu) c.1081A>G (p.Lys361Glu) c.973A>G (p.Lys325Glu) | |
| 2 | g.224503756T>G | CA350827528 | CUL3 | c.1273A>C (p.Lys425Gln) c.1075A>C (p.Lys359Gln) c.1201A>C (p.Lys401Gln) n.569A>C c.-4A>C (n.-4A>C) c.1291A>C (p.Lys431Gln) c.1240A>C (p.Lys414Gln) c.1126A>C (p.Lys376Gln) c.1231A>C (p.Lys411Gln) c.1081A>C (p.Lys361Gln) c.973A>C (p.Lys325Gln) | |
| 2 | g.224503757T>A | CA350827530 | CUL3 | c.1272A>T (p.Glu424Asp) c.1074A>T (p.Glu358Asp) c.1200A>T (p.Glu400Asp) n.568A>T c.-5A>T (n.-5A>T) c.1290A>T (p.Glu430Asp) c.1239A>T (p.Glu413Asp) c.1125A>T (p.Glu375Asp) c.1230A>T (p.Glu410Asp) c.1080A>T (p.Glu360Asp) c.972A>T (p.Glu324Asp) | |
| 2 | g.224503757T>C | CA431492702 | CUL3 | c.1272A>G (p.Glu424=) c.1074A>G (p.Glu358=) c.1200A>G (p.Glu400=) n.568A>G c.-5A>G (n.-5A>G) c.1290A>G (p.Glu430=) c.1239A>G (p.Glu413=) c.1125A>G (p.Glu375=) c.1230A>G (p.Glu410=) c.1080A>G (p.Glu360=) c.972A>G (p.Glu324=) | |
| 2 | g.224503757T>G | CA350827531 | CUL3 | c.1272A>C (p.Glu424Asp) c.1074A>C (p.Glu358Asp) c.1200A>C (p.Glu400Asp) n.568A>C c.-5A>C (n.-5A>C) c.1290A>C (p.Glu430Asp) c.1239A>C (p.Glu413Asp) c.1125A>C (p.Glu375Asp) c.1230A>C (p.Glu410Asp) c.1080A>C (p.Glu360Asp) c.972A>C (p.Glu324Asp) | |
| 2 | g.224503758T>A | CA350827532 | CUL3 | c.1271A>T (p.Glu424Val) c.1073A>T (p.Glu358Val) c.1199A>T (p.Glu400Val) n.567A>T c.-6A>T (n.-6A>T) c.1289A>T (p.Glu430Val) c.1238A>T (p.Glu413Val) c.1124A>T (p.Glu375Val) c.1229A>T (p.Glu410Val) c.1079A>T (p.Glu360Val) c.971A>T (p.Glu324Val) | dbSNP |
| 2 | g.224503758T>C | CA350827533 | CUL3 | c.1271A>G (p.Glu424Gly) c.1073A>G (p.Glu358Gly) c.1199A>G (p.Glu400Gly) n.567A>G c.-6A>G (n.-6A>G) c.1289A>G (p.Glu430Gly) c.1238A>G (p.Glu413Gly) c.1124A>G (p.Glu375Gly) c.1229A>G (p.Glu410Gly) c.1079A>G (p.Glu360Gly) c.971A>G (p.Glu324Gly) | dbSNP |
| 2 | g.224503758T>G | CA350827534 | CUL3 | c.1271A>C (p.Glu424Ala) c.1073A>C (p.Glu358Ala) c.1199A>C (p.Glu400Ala) n.567A>C c.-6A>C (n.-6A>C) c.1289A>C (p.Glu430Ala) c.1238A>C (p.Glu413Ala) c.1124A>C (p.Glu375Ala) c.1229A>C (p.Glu410Ala) c.1079A>C (p.Glu360Ala) c.971A>C (p.Glu324Ala) | |
| 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=) |