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 |
|---|---|---|---|---|---|
| 15 | g.58563543_58563565dup | CA2180393418 | LIPC | c.1208_1230dup (p.Gly411LeufsTer11) c.1025_1047dup (p.Gly350LeufsTer11) n.1065_1087dup c.1145_1167dup (p.Gly390LeufsTer11) c.1067_1089dup (p.Gly364LeufsTer11) c.1244_1266dup (p.Gly423LeufsTer11) | dbSNP |
| 15 | g.58563549C>A | CA392611772 | LIPC | c.1214C>A (p.Thr405Lys) c.1031C>A (p.Thr344Lys) n.1071C>A c.1151C>A (p.Thr384Lys) c.1073C>A (p.Thr358Lys) c.1250C>A (p.Thr417Lys) | |
| 15 | g.58563549C= | CA2180393430 | LIPC | c.1214C= (p.Thr405=) c.1031C= (p.Thr344=) n.1071C= c.1151C= (p.Thr384=) c.1073C= (p.Thr358=) c.1250C= (p.Thr417=) | |
| 15 | g.58563549C>G | CA392611773 | LIPC | c.1214C>G (p.Thr405Arg) c.1031C>G (p.Thr344Arg) n.1071C>G c.1151C>G (p.Thr384Arg) c.1073C>G (p.Thr358Arg) c.1250C>G (p.Thr417Arg) | |
| 15 | g.58563549C>T | CA210843 | LIPC | c.1214C>T (p.Thr405Met) c.1031C>T (p.Thr344Met) n.1071C>T c.1151C>T (p.Thr384Met) c.1073C>T (p.Thr358Met) c.1250C>T (p.Thr417Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563550G>A | CA7585165 | LIPC | c.1215G>A (p.Thr405=) c.1032G>A (p.Thr344=) n.1072G>A c.1152G>A (p.Thr384=) c.1074G>A (p.Thr358=) c.1251G>A (p.Thr417=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563550G>C | CA490611884 | LIPC | c.1215G>C (p.Thr405=) c.1032G>C (p.Thr344=) n.1072G>C c.1152G>C (p.Thr384=) c.1074G>C (p.Thr358=) c.1251G>C (p.Thr417=) | |
| 15 | g.58563550G= | CA2180393438 | LIPC | c.1215G= (p.Thr405=) c.1032G= (p.Thr344=) n.1072G= c.1152G= (p.Thr384=) c.1074G= (p.Thr358=) c.1251G= (p.Thr417=) | |
| 15 | g.58563550G>T | CA7585166 | LIPC | c.1215G>T (p.Thr405=) c.1032G>T (p.Thr344=) n.1072G>T c.1152G>T (p.Thr384=) c.1074G>T (p.Thr358=) c.1251G>T (p.Thr417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563551C>A | CA392611775 | LIPC | c.1216C>A (p.Leu406Met) c.1033C>A (p.Leu345Met) n.1073C>A c.1153C>A (p.Leu385Met) c.1075C>A (p.Leu359Met) c.1252C>A (p.Leu418Met) | |
| 15 | g.58563551C= | CA2180393439 | LIPC | c.1216C= (p.Leu406=) c.1033C= (p.Leu345=) n.1073C= c.1153C= (p.Leu385=) c.1075C= (p.Leu359=) c.1252C= (p.Leu418=) | |
| 15 | g.58563551C>G | CA392611774 | LIPC | c.1216C>G (p.Leu406Val) c.1033C>G (p.Leu345Val) n.1073C>G c.1153C>G (p.Leu385Val) c.1075C>G (p.Leu359Val) c.1252C>G (p.Leu418Val) | |
| 15 | g.58563551C>T | CA490611885 | LIPC | c.1216C>T (p.Leu406=) c.1033C>T (p.Leu345=) n.1073C>T c.1153C>T (p.Leu385=) c.1075C>T (p.Leu359=) c.1252C>T (p.Leu418=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58563552T>A | CA392611776 | LIPC | c.1217T>A (p.Leu406Gln) c.1034T>A (p.Leu345Gln) n.1074T>A c.1154T>A (p.Leu385Gln) c.1076T>A (p.Leu359Gln) c.1253T>A (p.Leu418Gln) | |
| 15 | g.58563552T>C | CA392611777 | LIPC | c.1217T>C (p.Leu406Pro) c.1034T>C (p.Leu345Pro) n.1074T>C c.1154T>C (p.Leu385Pro) c.1076T>C (p.Leu359Pro) c.1253T>C (p.Leu418Pro) | gnomAD v4 |
| 15 | g.58563552T>G | CA392611778 | LIPC | c.1217T>G (p.Leu406Arg) c.1034T>G (p.Leu345Arg) n.1074T>G c.1154T>G (p.Leu385Arg) c.1076T>G (p.Leu359Arg) c.1253T>G (p.Leu418Arg) | |
| 15 | g.58563553G>A | CA490611890 | LIPC | c.1218G>A (p.Leu406=) c.1035G>A (p.Leu345=) n.1075G>A c.1155G>A (p.Leu385=) c.1077G>A (p.Leu359=) c.1254G>A (p.Leu418=) | |
| 15 | g.58563553G>C | CA490611888 | LIPC | c.1218G>C (p.Leu406=) c.1035G>C (p.Leu345=) n.1075G>C c.1155G>C (p.Leu385=) c.1077G>C (p.Leu359=) c.1254G>C (p.Leu418=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58563553G= | CA2180393441 | LIPC | c.1218G= (p.Leu406=) c.1035G= (p.Leu345=) n.1075G= c.1155G= (p.Leu385=) c.1077G= (p.Leu359=) c.1254G= (p.Leu418=) | |
| 15 | g.58563553G>T | CA490611889 | LIPC | c.1218G>T (p.Leu406=) c.1035G>T (p.Leu345=) n.1075G>T c.1155G>T (p.Leu385=) c.1077G>T (p.Leu359=) c.1254G>T (p.Leu418=) | |
| 15 | g.58563554G>A | CA7585167 | LIPC | c.1219G>A (p.Asp407Asn) c.1036G>A (p.Asp346Asn) n.1076G>A c.1156G>A (p.Asp386Asn) c.1078G>A (p.Asp360Asn) c.1255G>A (p.Asp419Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.58563554G>C | CA392611779 | LIPC | c.1219G>C (p.Asp407His) c.1036G>C (p.Asp346His) n.1076G>C c.1156G>C (p.Asp386His) c.1078G>C (p.Asp360His) c.1255G>C (p.Asp419His) | |
| 15 | g.58563554G= | CA2180393443 | LIPC | c.1219G= (p.Asp407=) c.1036G= (p.Asp346=) n.1076G= c.1156G= (p.Asp386=) c.1078G= (p.Asp360=) c.1255G= (p.Asp419=) | |
| 15 | g.58563554G>T | CA392611780 | LIPC | c.1219G>T (p.Asp407Tyr) c.1036G>T (p.Asp346Tyr) n.1076G>T c.1156G>T (p.Asp386Tyr) c.1078G>T (p.Asp360Tyr) c.1255G>T (p.Asp419Tyr) | |
| 15 | g.58563555A= | CA2180393450 | LIPC | c.1220A= (p.Asp407=) c.1037A= (p.Asp346=) n.1077A= c.1157A= (p.Asp386=) c.1079A= (p.Asp360=) c.1256A= (p.Asp419=) | |
| 15 | g.58563555A>C | CA392611783 | LIPC | c.1220A>C (p.Asp407Ala) c.1037A>C (p.Asp346Ala) n.1077A>C c.1157A>C (p.Asp386Ala) c.1079A>C (p.Asp360Ala) c.1256A>C (p.Asp419Ala) | gnomAD v4 |
| 15 | g.58563555A>G | CA392611781 | LIPC | c.1220A>G (p.Asp407Gly) c.1037A>G (p.Asp346Gly) n.1077A>G c.1157A>G (p.Asp386Gly) c.1079A>G (p.Asp360Gly) c.1256A>G (p.Asp419Gly) | |
| 15 | g.58563555A>T | CA392611782 | LIPC | c.1220A>T (p.Asp407Val) c.1037A>T (p.Asp346Val) n.1077A>T c.1157A>T (p.Asp386Val) c.1079A>T (p.Asp360Val) c.1256A>T (p.Asp419Val) | dbSNP gnomAD v4 |
| 15 | g.58563556T>A | CA392611784 | LIPC | c.1221T>A (p.Asp407Glu) c.1038T>A (p.Asp346Glu) n.1078T>A c.1158T>A (p.Asp386Glu) c.1080T>A (p.Asp360Glu) c.1257T>A (p.Asp419Glu) | |
| 15 | g.58563556T>C | CA490611895 | LIPC | c.1221T>C (p.Asp407=) c.1038T>C (p.Asp346=) n.1078T>C c.1158T>C (p.Asp386=) c.1080T>C (p.Asp360=) c.1257T>C (p.Asp419=) | dbSNP |
| 15 | g.58563556T>G | CA392611785 | LIPC | c.1221T>G (p.Asp407Glu) c.1038T>G (p.Asp346Glu) n.1078T>G c.1158T>G (p.Asp386Glu) c.1080T>G (p.Asp360Glu) c.1257T>G (p.Asp419Glu) | |
| 15 | g.58563556T= | CA2180393451 | LIPC | c.1221T= (p.Asp407=) c.1038T= (p.Asp346=) n.1078T= c.1158T= (p.Asp386=) c.1080T= (p.Asp360=) c.1257T= (p.Asp419=) | |
| 15 | g.58563557G>A | CA7585168 | LIPC | c.1222G>A (p.Val408Met) c.1039G>A (p.Val347Met) n.1079G>A c.1159G>A (p.Val387Met) c.1081G>A (p.Val361Met) c.1258G>A (p.Val420Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563557G>C | CA392611786 | LIPC | c.1222G>C (p.Val408Leu) c.1039G>C (p.Val347Leu) n.1079G>C c.1159G>C (p.Val387Leu) c.1081G>C (p.Val361Leu) c.1258G>C (p.Val420Leu) | |
| 15 | g.58563557G= | CA2180393453 | LIPC | c.1222G= (p.Val408=) c.1039G= (p.Val347=) n.1079G= c.1159G= (p.Val387=) c.1081G= (p.Val361=) c.1258G= (p.Val420=) | |
| 15 | g.58563557G>T | CA392611787 | LIPC | c.1222G>T (p.Val408Leu) c.1039G>T (p.Val347Leu) n.1079G>T c.1159G>T (p.Val387Leu) c.1081G>T (p.Val361Leu) c.1258G>T (p.Val420Leu) | dbSNP |
| 15 | g.58563558T>A | CA392611788 | LIPC | c.1223T>A (p.Val408Glu) c.1040T>A (p.Val347Glu) n.1080T>A c.1160T>A (p.Val387Glu) c.1082T>A (p.Val361Glu) c.1259T>A (p.Val420Glu) | |
| 15 | g.58563558T>C | CA392611790 | LIPC | c.1223T>C (p.Val408Ala) c.1040T>C (p.Val347Ala) n.1080T>C c.1160T>C (p.Val387Ala) c.1082T>C (p.Val361Ala) c.1259T>C (p.Val420Ala) | |
| 15 | g.58563558T>G | CA392611789 | LIPC | c.1223T>G (p.Val408Gly) c.1040T>G (p.Val347Gly) n.1080T>G c.1160T>G (p.Val387Gly) c.1082T>G (p.Val361Gly) c.1259T>G (p.Val420Gly) | |
| 15 | g.58563559G>A | CA7585169 | LIPC | c.1224G>A (p.Val408=) c.1041G>A (p.Val347=) n.1081G>A c.1161G>A (p.Val387=) c.1083G>A (p.Val361=) c.1260G>A (p.Val420=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58563559G>C | CA490611904 | LIPC | c.1224G>C (p.Val408=) c.1041G>C (p.Val347=) n.1081G>C c.1161G>C (p.Val387=) c.1083G>C (p.Val361=) c.1260G>C (p.Val420=) | dbSNP |
| 15 | g.58563559G= | CA2180393456 | LIPC | c.1224G= (p.Val408=) c.1041G= (p.Val347=) n.1081G= c.1161G= (p.Val387=) c.1083G= (p.Val361=) c.1260G= (p.Val420=) | |
| 15 | g.58563559G>T | CA490611903 | LIPC | c.1224G>T (p.Val408=) c.1041G>T (p.Val347=) n.1081G>T c.1161G>T (p.Val387=) c.1083G>T (p.Val361=) c.1260G>T (p.Val420=) | |
| 15 | g.58563560G>A | CA392611791 | LIPC | c.1225G>A (p.Asp409Asn) c.1042G>A (p.Asp348Asn) n.1082G>A c.1162G>A (p.Asp388Asn) c.1084G>A (p.Asp362Asn) c.1261G>A (p.Asp421Asn) | gnomAD v4 |
| 15 | g.58563560G>C | CA392611792 | LIPC | c.1225G>C (p.Asp409His) c.1042G>C (p.Asp348His) n.1082G>C c.1162G>C (p.Asp388His) c.1084G>C (p.Asp362His) c.1261G>C (p.Asp421His) | COSMIC |
| 15 | g.58563560G>T | CA392611793 | LIPC | c.1225G>T (p.Asp409Tyr) c.1042G>T (p.Asp348Tyr) n.1082G>T c.1162G>T (p.Asp388Tyr) c.1084G>T (p.Asp362Tyr) c.1261G>T (p.Asp421Tyr) | |
| 15 | g.58563560_58563561delinsGA | CA2180393461 | LIPC | c.1225_1226delinsGA (p.Asp409=) c.1042_1043delinsGA (p.Asp348=) n.1082_1083delinsGA c.1162_1163delinsGA (p.Asp388=) c.1084_1085delinsGA (p.Asp362=) c.1261_1262delinsGA (p.Asp421=) | |
| 15 | g.58563561del | CA7585170 | LIPC | c.1226del (p.Asp409ValfsTer5) c.1043del (p.Asp348ValfsTer5) n.1083del c.1163del (p.Asp388ValfsTer5) c.1085del (p.Asp362ValfsTer5) c.1262del (p.Asp421ValfsTer5) | dbSNP ExAC gnomAD v2 |
| 15 | g.58563561A= | CA2180393463 | LIPC | c.1226A= (p.Asp409=) c.1043A= (p.Asp348=) n.1083A= c.1163A= (p.Asp388=) c.1085A= (p.Asp362=) c.1262A= (p.Asp421=) | |
| 15 | g.58563561A>C | CA7585171 | LIPC | c.1226A>C (p.Asp409Ala) c.1043A>C (p.Asp348Ala) n.1083A>C c.1163A>C (p.Asp388Ala) c.1085A>C (p.Asp362Ala) c.1262A>C (p.Asp421Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563561A>G | CA392611794 | LIPC | c.1226A>G (p.Asp409Gly) c.1043A>G (p.Asp348Gly) n.1083A>G c.1163A>G (p.Asp388Gly) c.1085A>G (p.Asp362Gly) c.1262A>G (p.Asp421Gly) | |
| 15 | g.58563561A>T | CA392611795 | LIPC | c.1226A>T (p.Asp409Val) c.1043A>T (p.Asp348Val) n.1083A>T c.1163A>T (p.Asp388Val) c.1085A>T (p.Asp362Val) c.1262A>T (p.Asp421Val) | |
| 15 | g.58563562del | CA392611798 | LIPC | c.1227del (p.Asp409GlufsTer5) c.1044del (p.Asp348GlufsTer5) n.1084del c.1164del (p.Asp388GlufsTer5) c.1086del (p.Asp362GlufsTer5) c.1263del (p.Asp421GlufsTer5) | |
| 15 | g.58563562T>A | CA392611796 | LIPC | c.1227T>A (p.Asp409Glu) c.1044T>A (p.Asp348Glu) n.1084T>A c.1164T>A (p.Asp388Glu) c.1086T>A (p.Asp362Glu) c.1263T>A (p.Asp421Glu) | |
| 15 | g.58563562T>C | CA490611910 | LIPC | c.1227T>C (p.Asp409=) c.1044T>C (p.Asp348=) n.1084T>C c.1164T>C (p.Asp388=) c.1086T>C (p.Asp362=) c.1263T>C (p.Asp421=) | dbSNP |
| 15 | g.58563562T>G | CA392611797 | LIPC | c.1227T>G (p.Asp409Glu) c.1044T>G (p.Asp348Glu) n.1084T>G c.1164T>G (p.Asp388Glu) c.1086T>G (p.Asp362Glu) c.1263T>G (p.Asp421Glu) | |
| 15 | g.58563563A>C | CA392611801 | LIPC | c.1228A>C (p.Ile410Leu) c.1045A>C (p.Ile349Leu) n.1085A>C c.1165A>C (p.Ile389Leu) c.1087A>C (p.Ile363Leu) c.1264A>C (p.Ile422Leu) | |
| 15 | g.58563563A>G | CA392611800 | LIPC | c.1228A>G (p.Ile410Val) c.1045A>G (p.Ile349Val) n.1085A>G c.1165A>G (p.Ile389Val) c.1087A>G (p.Ile363Val) c.1264A>G (p.Ile422Val) | |
| 15 | g.58563563A>T | CA392611799 | LIPC | c.1228A>T (p.Ile410Phe) c.1045A>T (p.Ile349Phe) n.1085A>T c.1165A>T (p.Ile389Phe) c.1087A>T (p.Ile363Phe) c.1264A>T (p.Ile422Phe) | |
| 15 | g.58563564T>A | CA392611802 | LIPC | c.1229T>A (p.Ile410Asn) c.1046T>A (p.Ile349Asn) n.1086T>A c.1166T>A (p.Ile389Asn) c.1088T>A (p.Ile363Asn) c.1265T>A (p.Ile422Asn) | |
| 15 | g.58563564T>C | CA392611804 | LIPC | c.1229T>C (p.Ile410Thr) c.1046T>C (p.Ile349Thr) n.1086T>C c.1166T>C (p.Ile389Thr) c.1088T>C (p.Ile363Thr) c.1265T>C (p.Ile422Thr) | |
| 15 | g.58563564T>G | CA392611803 | LIPC | c.1229T>G (p.Ile410Ser) c.1046T>G (p.Ile349Ser) n.1086T>G c.1166T>G (p.Ile389Ser) c.1088T>G (p.Ile363Ser) c.1265T>G (p.Ile422Ser) | |
| 15 | g.58563565C>A | CA490611914 | LIPC | c.1230C>A (p.Ile410=) c.1047C>A (p.Ile349=) n.1087C>A c.1167C>A (p.Ile389=) c.1089C>A (p.Ile363=) c.1266C>A (p.Ile422=) | |
| 15 | g.58563565C= | CA2180393468 | LIPC | c.1230C= (p.Ile410=) c.1047C= (p.Ile349=) n.1087C= c.1167C= (p.Ile389=) c.1089C= (p.Ile363=) c.1266C= (p.Ile422=) | |
| 15 | g.58563565C>G | CA392611805 | LIPC | c.1230C>G (p.Ile410Met) c.1047C>G (p.Ile349Met) n.1087C>G c.1167C>G (p.Ile389Met) c.1089C>G (p.Ile363Met) c.1266C>G (p.Ile422Met) | |
| 15 | g.58563565C>T | CA7585172 | LIPC | c.1230C>T (p.Ile410=) c.1047C>T (p.Ile349=) n.1087C>T c.1167C>T (p.Ile389=) c.1089C>T (p.Ile363=) c.1266C>T (p.Ile422=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.58563566G>A | CA7585174 | LIPC | c.1231G>A (p.Gly411Ser) c.1048G>A (p.Gly350Ser) n.1088G>A c.1168G>A (p.Gly390Ser) c.1090G>A (p.Gly364Ser) c.1267G>A (p.Gly423Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.58563566G>C | CA7585173 | LIPC | c.1231G>C (p.Gly411Arg) c.1048G>C (p.Gly350Arg) n.1088G>C c.1168G>C (p.Gly390Arg) c.1090G>C (p.Gly364Arg) c.1267G>C (p.Gly423Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.58563566G= | CA2180393472 | LIPC | c.1231G= (p.Gly411=) c.1048G= (p.Gly350=) n.1088G= c.1168G= (p.Gly390=) c.1090G= (p.Gly364=) c.1267G= (p.Gly423=) | |
| 15 | g.58563566G>T | CA392611806 | LIPC | c.1231G>T (p.Gly411Cys) c.1048G>T (p.Gly350Cys) n.1088G>T c.1168G>T (p.Gly390Cys) c.1090G>T (p.Gly364Cys) c.1267G>T (p.Gly423Cys) | |
| 15 | g.58563567G>A | CA392611807 | LIPC | c.1232G>A (p.Gly411Asp) c.1049G>A (p.Gly350Asp) n.1089G>A c.1169G>A (p.Gly390Asp) c.1091G>A (p.Gly364Asp) c.1268G>A (p.Gly423Asp) | gnomAD v4 COSMIC |
| 15 | g.58563567G>C | CA392611809 | LIPC | c.1232G>C (p.Gly411Ala) c.1049G>C (p.Gly350Ala) n.1089G>C c.1169G>C (p.Gly390Ala) c.1091G>C (p.Gly364Ala) c.1268G>C (p.Gly423Ala) | |
| 15 | g.58563567G= | CA2180393478 | LIPC | c.1232G= (p.Gly411=) c.1049G= (p.Gly350=) n.1089G= c.1169G= (p.Gly390=) c.1091G= (p.Gly364=) c.1268G= (p.Gly423=) | |
| 15 | g.58563567G>T | CA392611808 | LIPC | c.1232G>T (p.Gly411Val) c.1049G>T (p.Gly350Val) n.1089G>T c.1169G>T (p.Gly390Val) c.1091G>T (p.Gly364Val) c.1268G>T (p.Gly423Val) | ClinVar dbSNP |
| 15 | g.58563567_58563568insTGGT | CA2512164383 | LIPC | c.1232_1233insTGGT (p.Glu412GlyfsTer?) c.1049_1050insTGGT (p.Glu351GlyfsTer?) n.1089_1090insTGGT c.1169_1170insTGGT (p.Glu391GlyfsTer?) c.1091_1092insTGGT (p.Glu365GlyfsTer?) c.1268_1269insTGGT (p.Glu424GlyfsTer?) | |
| 15 | g.58563568C>A | CA490611921 | LIPC | c.1233C>A (p.Gly411=) c.1050C>A (p.Gly350=) n.1090C>A c.1170C>A (p.Gly390=) c.1092C>A (p.Gly364=) c.1269C>A (p.Gly423=) | gnomAD v4 |
| 15 | g.58563568C= | CA2180393484 | LIPC | c.1233C= (p.Gly411=) c.1050C= (p.Gly350=) n.1090C= c.1170C= (p.Gly390=) c.1092C= (p.Gly364=) c.1269C= (p.Gly423=) | |
| 15 | g.58563568C>G | CA490611919 | LIPC | c.1233C>G (p.Gly411=) c.1050C>G (p.Gly350=) n.1090C>G c.1170C>G (p.Gly390=) c.1092C>G (p.Gly364=) c.1269C>G (p.Gly423=) | gnomAD v4 |
| 15 | g.58563568C>T | CA7585175 | LIPC | c.1233C>T (p.Gly411=) c.1050C>T (p.Gly350=) n.1090C>T c.1170C>T (p.Gly390=) c.1092C>T (p.Gly364=) c.1269C>T (p.Gly423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563569G>A | CA392611810 | LIPC | c.1234G>A (p.Glu412Lys) c.1051G>A (p.Glu351Lys) n.1091G>A c.1171G>A (p.Glu391Lys) c.1093G>A (p.Glu365Lys) c.1270G>A (p.Glu424Lys) | dbSNP gnomAD v4 COSMIC |
| 15 | g.58563569G>C | CA7585176 | LIPC | c.1234G>C (p.Glu412Gln) c.1051G>C (p.Glu351Gln) n.1091G>C c.1171G>C (p.Glu391Gln) c.1093G>C (p.Glu365Gln) c.1270G>C (p.Glu424Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563569G= | CA2180393491 | LIPC | c.1234G= (p.Glu412=) c.1051G= (p.Glu351=) n.1091G= c.1171G= (p.Glu391=) c.1093G= (p.Glu365=) c.1270G= (p.Glu424=) | |
| 15 | g.58563569G>T | CA392611811 | LIPC | c.1234G>T (p.Glu412Ter) c.1051G>T (p.Glu351Ter) n.1091G>T c.1171G>T (p.Glu391Ter) c.1093G>T (p.Glu365Ter) c.1270G>T (p.Glu424Ter) | COSMIC |
| 15 | g.58563570_58563571del | CA2501080401 | LIPC | c.1235_1236del (p.Glu412AlafsTer?) c.1052_1053del (p.Glu351AlafsTer?) n.1092_1093del c.1172_1173del (p.Glu391AlafsTer?) c.1094_1095del (p.Glu365AlafsTer?) c.1271_1272del (p.Glu424AlafsTer?) | |
| 15 | g.58563570A>C | CA392611812 | LIPC | c.1235A>C (p.Glu412Ala) c.1052A>C (p.Glu351Ala) n.1092A>C c.1172A>C (p.Glu391Ala) c.1094A>C (p.Glu365Ala) c.1271A>C (p.Glu424Ala) | |
| 15 | g.58563570A>G | CA392611813 | LIPC | c.1235A>G (p.Glu412Gly) c.1052A>G (p.Glu351Gly) n.1092A>G c.1172A>G (p.Glu391Gly) c.1094A>G (p.Glu365Gly) c.1271A>G (p.Glu424Gly) | |
| 15 | g.58563570A>T | CA392611814 | LIPC | c.1235A>T (p.Glu412Val) c.1052A>T (p.Glu351Val) n.1092A>T c.1172A>T (p.Glu391Val) c.1094A>T (p.Glu365Val) c.1271A>T (p.Glu424Val) | |
| 15 | g.58563571G>A | CA490611924 | LIPC | c.1236G>A (p.Glu412=) c.1053G>A (p.Glu351=) n.1093G>A c.1173G>A (p.Glu391=) c.1095G>A (p.Glu365=) c.1272G>A (p.Glu424=) | gnomAD v4 |
| 15 | g.58563571G>C | CA392611815 | LIPC | c.1236G>C (p.Glu412Asp) c.1053G>C (p.Glu351Asp) n.1093G>C c.1173G>C (p.Glu391Asp) c.1095G>C (p.Glu365Asp) c.1272G>C (p.Glu424Asp) | |
| 15 | g.58563571G>T | CA392611816 | LIPC | c.1236G>T (p.Glu412Asp) c.1053G>T (p.Glu351Asp) n.1093G>T c.1173G>T (p.Glu391Asp) c.1095G>T (p.Glu365Asp) c.1272G>T (p.Glu424Asp) | COSMIC |
| 15 | g.58563572C>A | CA392611817 | LIPC | c.1237C>A (p.Leu413Met) c.1054C>A (p.Leu352Met) n.1094C>A c.1174C>A (p.Leu392Met) c.1096C>A (p.Leu366Met) c.1273C>A (p.Leu425Met) | gnomAD v4 |
| 15 | g.58563572C>G | CA392611818 | LIPC | c.1237C>G (p.Leu413Val) c.1054C>G (p.Leu352Val) n.1094C>G c.1174C>G (p.Leu392Val) c.1096C>G (p.Leu366Val) c.1273C>G (p.Leu425Val) | |
| 15 | g.58563572C>T | CA490611928 | LIPC | c.1237C>T (p.Leu413=) c.1054C>T (p.Leu352=) n.1094C>T c.1174C>T (p.Leu392=) c.1096C>T (p.Leu366=) c.1273C>T (p.Leu425=) | |
| 15 | g.58563572_58563578delinsCTGATCA | CA2180393494 | LIPC | c.1237_1243delinsCTGATCA (p.Leu413=) c.1054_1060delinsCTGATCA (p.Leu352=) n.1094_1100delinsCTGATCA c.1174_1180delinsCTGATCA (p.Leu392=) c.1096_1102delinsCTGATCA (p.Leu366=) c.1273_1279delinsCTGATCA (p.Leu425=) | |
| 15 | g.58563573T>A | CA392611820 | LIPC | c.1238T>A (p.Leu413Gln) c.1055T>A (p.Leu352Gln) n.1095T>A c.1175T>A (p.Leu392Gln) c.1097T>A (p.Leu366Gln) c.1274T>A (p.Leu425Gln) | |
| 15 | g.58563573T>C | CA7585177 | LIPC | c.1238T>C (p.Leu413Pro) c.1055T>C (p.Leu352Pro) n.1095T>C c.1175T>C (p.Leu392Pro) c.1097T>C (p.Leu366Pro) c.1274T>C (p.Leu425Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563573T>G | CA392611819 | LIPC | c.1238T>G (p.Leu413Arg) c.1055T>G (p.Leu352Arg) n.1095T>G c.1175T>G (p.Leu392Arg) c.1097T>G (p.Leu366Arg) c.1274T>G (p.Leu425Arg) | |
| 15 | g.58563573T= | CA2180393497 | LIPC | c.1238T= (p.Leu413=) c.1055T= (p.Leu352=) n.1095T= c.1175T= (p.Leu392=) c.1097T= (p.Leu366=) c.1274T= (p.Leu425=) | |
| 15 | g.58563579_58563584del | CA618505938 | LIPC | c.1244_1249del (p.Met415_Ile416del) c.1061_1066del (p.Met354_Ile355del) n.1101_1106del c.1181_1186del (p.Met394_Ile395del) c.1103_1108del (p.Met368_Ile369del) c.1280_1285del (p.Met427_Ile428del) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58563574G>A | CA7585178 | LIPC | c.1239G>A (p.Leu413=) c.1056G>A (p.Leu352=) n.1096G>A c.1176G>A (p.Leu392=) c.1098G>A (p.Leu366=) c.1275G>A (p.Leu425=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58563574G>C | CA490611931 | LIPC | c.1239G>C (p.Leu413=) c.1056G>C (p.Leu352=) n.1096G>C c.1176G>C (p.Leu392=) c.1098G>C (p.Leu366=) c.1275G>C (p.Leu425=) | |
| 15 | g.58563574G= | CA2180393500 | LIPC | c.1239G= (p.Leu413=) c.1056G= (p.Leu352=) n.1096G= c.1176G= (p.Leu392=) c.1098G= (p.Leu366=) c.1275G= (p.Leu425=) | |
| 15 | g.58563574G>T | CA490611932 | LIPC | c.1239G>T (p.Leu413=) c.1056G>T (p.Leu352=) n.1096G>T c.1176G>T (p.Leu392=) c.1098G>T (p.Leu366=) c.1275G>T (p.Leu425=) | |
| 15 | g.58563574_58563575insT | CA2546812652 | LIPC | c.1239_1240insT (p.Ile414TyrfsTer?) c.1056_1057insT (p.Ile353TyrfsTer?) n.1096_1097insT c.1176_1177insT (p.Ile393TyrfsTer?) c.1098_1099insT (p.Ile367TyrfsTer?) c.1275_1276insT (p.Ile426TyrfsTer?) | |
| 15 | g.58563575A= | CA2180393504 | LIPC | c.1240A= (p.Ile414=) c.1057A= (p.Ile353=) n.1097A= c.1177A= (p.Ile393=) c.1099A= (p.Ile367=) c.1276A= (p.Ile426=) | |
| 15 | g.58563575A>C | CA392611821 | LIPC | c.1240A>C (p.Ile414Leu) c.1057A>C (p.Ile353Leu) n.1097A>C c.1177A>C (p.Ile393Leu) c.1099A>C (p.Ile367Leu) c.1276A>C (p.Ile426Leu) | |
| 15 | g.58563575A>G | CA392611822 | LIPC | c.1240A>G (p.Ile414Val) c.1057A>G (p.Ile353Val) n.1097A>G c.1177A>G (p.Ile393Val) c.1099A>G (p.Ile367Val) c.1276A>G (p.Ile426Val) | dbSNP |
| 15 | g.58563575A>T | CA392611823 | LIPC | c.1240A>T (p.Ile414Phe) c.1057A>T (p.Ile353Phe) n.1097A>T c.1177A>T (p.Ile393Phe) c.1099A>T (p.Ile367Phe) c.1276A>T (p.Ile426Phe) | |
| 15 | g.58563576T>A | CA392611824 | LIPC | c.1241T>A (p.Ile414Asn) c.1058T>A (p.Ile353Asn) n.1098T>A c.1178T>A (p.Ile393Asn) c.1100T>A (p.Ile367Asn) c.1277T>A (p.Ile426Asn) | |
| 15 | g.58563576T>C | CA7585179 | LIPC | c.1241T>C (p.Ile414Thr) c.1058T>C (p.Ile353Thr) n.1098T>C c.1178T>C (p.Ile393Thr) c.1100T>C (p.Ile367Thr) c.1277T>C (p.Ile426Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563576T>G | CA392611825 | LIPC | c.1241T>G (p.Ile414Ser) c.1058T>G (p.Ile353Ser) n.1098T>G c.1178T>G (p.Ile393Ser) c.1100T>G (p.Ile367Ser) c.1277T>G (p.Ile426Ser) | |
| 15 | g.58563576T= | CA2180393507 | LIPC | c.1241T= (p.Ile414=) c.1058T= (p.Ile353=) n.1098T= c.1178T= (p.Ile393=) c.1100T= (p.Ile367=) c.1277T= (p.Ile426=) | |
| 15 | g.58563577C>A | CA490611937 | LIPC | c.1242C>A (p.Ile414=) c.1059C>A (p.Ile353=) n.1099C>A c.1179C>A (p.Ile393=) c.1101C>A (p.Ile367=) c.1278C>A (p.Ile426=) | |
| 15 | g.58563577C= | CA2180393510 | LIPC | c.1242C= (p.Ile414=) c.1059C= (p.Ile353=) n.1099C= c.1179C= (p.Ile393=) c.1101C= (p.Ile367=) c.1278C= (p.Ile426=) | |
| 15 | g.58563577C>G | CA392611826 | LIPC | c.1242C>G (p.Ile414Met) c.1059C>G (p.Ile353Met) n.1099C>G c.1179C>G (p.Ile393Met) c.1101C>G (p.Ile367Met) c.1278C>G (p.Ile426Met) | |
| 15 | g.58563577C>T | CA490611939 | LIPC | c.1242C>T (p.Ile414=) c.1059C>T (p.Ile353=) n.1099C>T c.1179C>T (p.Ile393=) c.1101C>T (p.Ile367=) c.1278C>T (p.Ile426=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58563578A= | CA2180393514 | LIPC | c.1243A= (p.Met415=) c.1060A= (p.Met354=) n.1100A= c.1180A= (p.Met394=) c.1102A= (p.Met368=) c.1279A= (p.Met427=) | |
| 15 | g.58563578A>C | CA392611827 | LIPC | c.1243A>C (p.Met415Leu) c.1060A>C (p.Met354Leu) n.1100A>C c.1180A>C (p.Met394Leu) c.1102A>C (p.Met368Leu) c.1279A>C (p.Met427Leu) | |
| 15 | g.58563578A>G | CA392611828 | LIPC | c.1243A>G (p.Met415Val) c.1060A>G (p.Met354Val) n.1100A>G c.1180A>G (p.Met394Val) c.1102A>G (p.Met368Val) c.1279A>G (p.Met427Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563578A>T | CA392611829 | LIPC | c.1243A>T (p.Met415Leu) c.1060A>T (p.Met354Leu) n.1100A>T c.1180A>T (p.Met394Leu) c.1102A>T (p.Met368Leu) c.1279A>T (p.Met427Leu) | |
| 15 | g.58563579T>A | CA392611831 | LIPC | c.1244T>A (p.Met415Lys) c.1061T>A (p.Met354Lys) n.1101T>A c.1181T>A (p.Met394Lys) c.1103T>A (p.Met368Lys) c.1280T>A (p.Met427Lys) | dbSNP gnomAD v4 |
| 15 | g.58563579T>C | CA7585180 | LIPC | c.1244T>C (p.Met415Thr) c.1061T>C (p.Met354Thr) n.1101T>C c.1181T>C (p.Met394Thr) c.1103T>C (p.Met368Thr) c.1280T>C (p.Met427Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58563579T>G | CA392611830 | LIPC | c.1244T>G (p.Met415Arg) c.1061T>G (p.Met354Arg) n.1101T>G c.1181T>G (p.Met394Arg) c.1103T>G (p.Met368Arg) c.1280T>G (p.Met427Arg) | |
| 15 | g.58563579T= | CA2180393518 | LIPC | c.1244T= (p.Met415=) c.1061T= (p.Met354=) n.1101T= c.1181T= (p.Met394=) c.1103T= (p.Met368=) c.1280T= (p.Met427=) | |
| 15 | g.58563580G>A | CA392611832 | LIPC | c.1245G>A (p.Met415Ile) c.1062G>A (p.Met354Ile) n.1102G>A c.1182G>A (p.Met394Ile) c.1104G>A (p.Met368Ile) c.1281G>A (p.Met427Ile) | dbSNP |
| 15 | g.58563580G>C | CA392611833 | LIPC | c.1245G>C (p.Met415Ile) c.1062G>C (p.Met354Ile) n.1102G>C c.1182G>C (p.Met394Ile) c.1104G>C (p.Met368Ile) c.1281G>C (p.Met427Ile) | |
| 15 | g.58563580G= | CA2180393520 | LIPC | c.1245G= (p.Met415=) c.1062G= (p.Met354=) n.1102G= c.1182G= (p.Met394=) c.1104G= (p.Met368=) c.1281G= (p.Met427=) | |
| 15 | g.58563580G>T | CA392611834 | LIPC | c.1245G>T (p.Met415Ile) c.1062G>T (p.Met354Ile) n.1102G>T c.1182G>T (p.Met394Ile) c.1104G>T (p.Met368Ile) c.1281G>T (p.Met427Ile) | |
| 15 | g.58563581A>C | CA392611835 | LIPC | c.1246A>C (p.Ile416Leu) c.1063A>C (p.Ile355Leu) n.1103A>C c.1183A>C (p.Ile395Leu) c.1105A>C (p.Ile369Leu) c.1282A>C (p.Ile428Leu) | |
| 15 | g.58563581A>G | CA392611836 | LIPC | c.1246A>G (p.Ile416Val) c.1063A>G (p.Ile355Val) n.1103A>G c.1183A>G (p.Ile395Val) c.1105A>G (p.Ile369Val) c.1282A>G (p.Ile428Val) | |
| 15 | g.58563581A>T | CA392611837 | LIPC | c.1246A>T (p.Ile416Phe) c.1063A>T (p.Ile355Phe) n.1103A>T c.1183A>T (p.Ile395Phe) c.1105A>T (p.Ile369Phe) c.1282A>T (p.Ile428Phe) | |
| 15 | g.58563582T>A | CA392611838 | LIPC | c.1247T>A (p.Ile416Asn) c.1064T>A (p.Ile355Asn) n.1104T>A c.1184T>A (p.Ile395Asn) c.1106T>A (p.Ile369Asn) c.1283T>A (p.Ile428Asn) | |
| 15 | g.58563582T>C | CA392611839 | LIPC | c.1247T>C (p.Ile416Thr) c.1064T>C (p.Ile355Thr) n.1104T>C c.1184T>C (p.Ile395Thr) c.1106T>C (p.Ile369Thr) c.1283T>C (p.Ile428Thr) | |
| 15 | g.58563582T>G | CA392611840 | LIPC | c.1247T>G (p.Ile416Ser) c.1064T>G (p.Ile355Ser) n.1104T>G c.1184T>G (p.Ile395Ser) c.1106T>G (p.Ile369Ser) c.1283T>G (p.Ile428Ser) | |
| 15 | g.58563583C>A | CA490611946 | LIPC | c.1248C>A (p.Ile416=) c.1065C>A (p.Ile355=) n.1105C>A c.1185C>A (p.Ile395=) c.1107C>A (p.Ile369=) c.1284C>A (p.Ile428=) | |
| 15 | g.58563583C>G | CA392611841 | LIPC | c.1248C>G (p.Ile416Met) c.1065C>G (p.Ile355Met) n.1105C>G c.1185C>G (p.Ile395Met) c.1107C>G (p.Ile369Met) c.1284C>G (p.Ile428Met) | |
| 15 | g.58563583C>T | CA490611950 | LIPC | c.1248C>T (p.Ile416=) c.1065C>T (p.Ile355=) n.1105C>T c.1185C>T (p.Ile395=) c.1107C>T (p.Ile369=) c.1284C>T (p.Ile428=) | |
| 15 | g.58563584A>C | CA392611842 | LIPC | c.1249A>C (p.Lys417Gln) c.1066A>C (p.Lys356Gln) n.1106A>C c.1186A>C (p.Lys396Gln) c.1108A>C (p.Lys370Gln) c.1285A>C (p.Lys429Gln) | |
| 15 | g.58563584A>G | CA392611843 | LIPC | c.1249A>G (p.Lys417Glu) c.1066A>G (p.Lys356Glu) n.1106A>G c.1186A>G (p.Lys396Glu) c.1108A>G (p.Lys370Glu) c.1285A>G (p.Lys429Glu) | |
| 15 | g.58563584A>T | CA392611844 | LIPC | c.1249A>T (p.Lys417Ter) c.1066A>T (p.Lys356Ter) n.1106A>T c.1186A>T (p.Lys396Ter) c.1108A>T (p.Lys370Ter) c.1285A>T (p.Lys429Ter) | |
| 15 | g.58563585A>C | CA392611845 | LIPC | c.1250A>C (p.Lys417Thr) c.1067A>C (p.Lys356Thr) n.1107A>C c.1187A>C (p.Lys396Thr) c.1109A>C (p.Lys370Thr) c.1286A>C (p.Lys429Thr) | |
| 15 | g.58563585A>G | CA392611847 | LIPC | c.1250A>G (p.Lys417Arg) c.1067A>G (p.Lys356Arg) n.1107A>G c.1187A>G (p.Lys396Arg) c.1109A>G (p.Lys370Arg) c.1286A>G (p.Lys429Arg) | |
| 15 | g.58563585A>T | CA392611846 | LIPC | c.1250A>T (p.Lys417Met) c.1067A>T (p.Lys356Met) n.1107A>T c.1187A>T (p.Lys396Met) c.1109A>T (p.Lys370Met) c.1286A>T (p.Lys429Met) | |
| 15 | g.58563586G>A | CA490611957 | LIPC | c.1251G>A (p.Lys417=) c.1068G>A (p.Lys356=) n.1108G>A c.1188G>A (p.Lys396=) c.1110G>A (p.Lys370=) c.1287G>A (p.Lys429=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58563586G>C | CA392611848 | LIPC | c.1251G>C (p.Lys417Asn) c.1068G>C (p.Lys356Asn) n.1108G>C c.1188G>C (p.Lys396Asn) c.1110G>C (p.Lys370Asn) c.1287G>C (p.Lys429Asn) | dbSNP COSMIC |
| 15 | g.58563586G= | CA2180393522 | LIPC | c.1251G= (p.Lys417=) c.1068G= (p.Lys356=) n.1108G= c.1188G= (p.Lys396=) c.1110G= (p.Lys370=) c.1287G= (p.Lys429=) | |
| 15 | g.58563586G>T | CA392611849 | LIPC | c.1251G>T (p.Lys417Asn) c.1068G>T (p.Lys356Asn) n.1108G>T c.1188G>T (p.Lys396Asn) c.1110G>T (p.Lys370Asn) c.1287G>T (p.Lys429Asn) | |
| 15 | g.58563586_58563588del | CA2560513229 | LIPC | c.1251_1253del (p.Lys417_Phe418delinsAsn) c.1068_1070del (p.Lys356_Phe357delinsAsn) n.1108_1110del c.1188_1190del (p.Lys396_Phe397delinsAsn) c.1110_1112del (p.Lys370_Phe371delinsAsn) c.1287_1289del (p.Lys429_Phe430delinsAsn) | |
| 15 | g.58563587T>A | CA392611850 | LIPC | c.1252T>A (p.Phe418Ile) c.1069T>A (p.Phe357Ile) n.1109T>A c.1189T>A (p.Phe397Ile) c.1111T>A (p.Phe371Ile) c.1288T>A (p.Phe430Ile) | |
| 15 | g.58563587T>C | CA7585181 | LIPC | c.1252T>C (p.Phe418Leu) c.1069T>C (p.Phe357Leu) n.1109T>C c.1189T>C (p.Phe397Leu) c.1111T>C (p.Phe371Leu) c.1288T>C (p.Phe430Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58563587T>G | CA392611851 | LIPC | c.1252T>G (p.Phe418Val) c.1069T>G (p.Phe357Val) n.1109T>G c.1189T>G (p.Phe397Val) c.1111T>G (p.Phe371Val) c.1288T>G (p.Phe430Val) | |
| 15 | g.58563587T= | CA2180393527 | LIPC | c.1252T= (p.Phe418=) c.1069T= (p.Phe357=) n.1109T= c.1189T= (p.Phe397=) c.1111T= (p.Phe371=) c.1288T= (p.Phe430=) | |
| 15 | g.58563588T>A | CA392611852 | LIPC | c.1253T>A (p.Phe418Tyr) c.1070T>A (p.Phe357Tyr) n.1110T>A c.1190T>A (p.Phe397Tyr) c.1112T>A (p.Phe371Tyr) c.1289T>A (p.Phe430Tyr) | |
| 15 | g.58563588T>C | CA392611853 | LIPC | c.1253T>C (p.Phe418Ser) c.1070T>C (p.Phe357Ser) n.1110T>C c.1190T>C (p.Phe397Ser) c.1112T>C (p.Phe371Ser) c.1289T>C (p.Phe430Ser) | |
| 15 | g.58563588T>G | CA392611854 | LIPC | c.1253T>G (p.Phe418Cys) c.1070T>G (p.Phe357Cys) n.1110T>G c.1190T>G (p.Phe397Cys) c.1112T>G (p.Phe371Cys) c.1289T>G (p.Phe430Cys) | |
| 15 | g.58563589C>A | CA392611855 | LIPC | c.1254C>A (p.Phe418Leu) c.1071C>A (p.Phe357Leu) n.1111C>A c.1191C>A (p.Phe397Leu) c.1113C>A (p.Phe371Leu) c.1290C>A (p.Phe430Leu) | |
| 15 | g.58563589C>G | CA392611856 | LIPC | c.1254C>G (p.Phe418Leu) c.1071C>G (p.Phe357Leu) n.1111C>G c.1191C>G (p.Phe397Leu) c.1113C>G (p.Phe371Leu) c.1290C>G (p.Phe430Leu) | |
| 15 | g.58563589C>T | CA490611962 | LIPC | c.1254C>T (p.Phe418=) c.1071C>T (p.Phe357=) n.1111C>T c.1191C>T (p.Phe397=) c.1113C>T (p.Phe371=) c.1290C>T (p.Phe430=) | |
| 15 | g.58563590A>C | CA392611859 | LIPC | c.1255A>C (p.Lys419Gln) c.1072A>C (p.Lys358Gln) n.1112A>C c.1192A>C (p.Lys398Gln) c.1114A>C (p.Lys372Gln) c.1291A>C (p.Lys431Gln) | |
| 15 | g.58563590A>G | CA392611858 | LIPC | c.1255A>G (p.Lys419Glu) c.1072A>G (p.Lys358Glu) n.1112A>G c.1192A>G (p.Lys398Glu) c.1114A>G (p.Lys372Glu) c.1291A>G (p.Lys431Glu) | |
| 15 | g.58563590A>T | CA392611857 | LIPC | c.1255A>T (p.Lys419Ter) c.1072A>T (p.Lys358Ter) n.1112A>T c.1192A>T (p.Lys398Ter) c.1114A>T (p.Lys372Ter) c.1291A>T (p.Lys431Ter) | |
| 15 | g.58563591A>C | CA392611860 | LIPC | c.1256A>C (p.Lys419Thr) c.1073A>C (p.Lys358Thr) n.1113A>C c.1193A>C (p.Lys398Thr) c.1115A>C (p.Lys372Thr) c.1292A>C (p.Lys431Thr) | |
| 15 | g.58563591A>G | CA392611862 | LIPC | c.1256A>G (p.Lys419Arg) c.1073A>G (p.Lys358Arg) n.1113A>G c.1193A>G (p.Lys398Arg) c.1115A>G (p.Lys372Arg) c.1292A>G (p.Lys431Arg) | COSMIC |
| 15 | g.58563591A>T | CA392611861 | LIPC | c.1256A>T (p.Lys419Met) c.1073A>T (p.Lys358Met) n.1113A>T c.1193A>T (p.Lys398Met) c.1115A>T (p.Lys372Met) c.1292A>T (p.Lys431Met) | |
| 15 | g.58563592G>A | CA7585182 | LIPC | c.1257G>A (p.Lys419=) c.1074G>A (p.Lys358=) n.1114G>A c.1194G>A (p.Lys398=) c.1116G>A (p.Lys372=) c.1293G>A (p.Lys431=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563592G>C | CA392611863 | LIPC | c.1257G>C (p.Lys419Asn) c.1074G>C (p.Lys358Asn) n.1114G>C c.1194G>C (p.Lys398Asn) c.1116G>C (p.Lys372Asn) c.1293G>C (p.Lys431Asn) | |
| 15 | g.58563592G= | CA2180393529 | LIPC | c.1257G= (p.Lys419=) c.1074G= (p.Lys358=) n.1114G= c.1194G= (p.Lys398=) c.1116G= (p.Lys372=) c.1293G= (p.Lys431=) | |
| 15 | g.58563592G>T | CA392611864 | LIPC | c.1257G>T (p.Lys419Asn) c.1074G>T (p.Lys358Asn) n.1114G>T c.1194G>T (p.Lys398Asn) c.1116G>T (p.Lys372Asn) c.1293G>T (p.Lys431Asn) | dbSNP |
| 15 | g.58563593T>A | CA392611865 | LIPC | c.1258T>A (p.Trp420Arg) c.1075T>A (p.Trp359Arg) n.1115T>A c.1195T>A (p.Trp399Arg) c.1117T>A (p.Trp373Arg) c.1294T>A (p.Trp432Arg) | dbSNP |
| 15 | g.58563593T>C | CA392611866 | LIPC | c.1258T>C (p.Trp420Arg) c.1075T>C (p.Trp359Arg) n.1115T>C c.1195T>C (p.Trp399Arg) c.1117T>C (p.Trp373Arg) c.1294T>C (p.Trp432Arg) | dbSNP |
| 15 | g.58563593T>G | CA392611867 | LIPC | c.1258T>G (p.Trp420Gly) c.1075T>G (p.Trp359Gly) n.1115T>G c.1195T>G (p.Trp399Gly) c.1117T>G (p.Trp373Gly) c.1294T>G (p.Trp432Gly) | |
| 15 | g.58563593T= | CA2180393532 | LIPC | c.1258T= (p.Trp420=) c.1075T= (p.Trp359=) n.1115T= c.1195T= (p.Trp399=) c.1117T= (p.Trp373=) c.1294T= (p.Trp432=) | |
| 15 | g.58563594G>A | CA392611868 | LIPC | c.1259G>A (p.Trp420Ter) c.1076G>A (p.Trp359Ter) n.1116G>A c.1196G>A (p.Trp399Ter) c.1118G>A (p.Trp373Ter) c.1295G>A (p.Trp432Ter) | gnomAD v4 |
| 15 | g.58563594G>C | CA392611869 | LIPC | c.1259G>C (p.Trp420Ser) c.1076G>C (p.Trp359Ser) n.1116G>C c.1196G>C (p.Trp399Ser) c.1118G>C (p.Trp373Ser) c.1295G>C (p.Trp432Ser) | |
| 15 | g.58563594G>T | CA392611870 | LIPC | c.1259G>T (p.Trp420Leu) c.1076G>T (p.Trp359Leu) n.1116G>T c.1196G>T (p.Trp399Leu) c.1118G>T (p.Trp373Leu) c.1295G>T (p.Trp432Leu) | |
| 15 | g.58563595G>A | CA392611871 | LIPC | c.1260G>A (p.Trp420Ter) c.1077G>A (p.Trp359Ter) n.1117G>A c.1197G>A (p.Trp399Ter) c.1119G>A (p.Trp373Ter) c.1296G>A (p.Trp432Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58563595G>C | CA392611872 | LIPC | c.1260G>C (p.Trp420Cys) c.1077G>C (p.Trp359Cys) n.1117G>C c.1197G>C (p.Trp399Cys) c.1119G>C (p.Trp373Cys) c.1296G>C (p.Trp432Cys) | |
| 15 | g.58563595G= | CA2180393536 | LIPC | c.1260G= (p.Trp420=) c.1077G= (p.Trp359=) n.1117G= c.1197G= (p.Trp399=) c.1119G= (p.Trp373=) c.1296G= (p.Trp432=) | |
| 15 | g.58563595G>T | CA392611873 | LIPC | c.1260G>T (p.Trp420Cys) c.1077G>T (p.Trp359Cys) n.1117G>T c.1197G>T (p.Trp399Cys) c.1119G>T (p.Trp373Cys) c.1296G>T (p.Trp432Cys) | gnomAD v3 gnomAD v4 |
| 15 | g.58563596G>A | CA392611876 | LIPC | c.1261G>A (p.Glu421Lys) c.1078G>A (p.Glu360Lys) n.1118G>A c.1198G>A (p.Glu400Lys) c.1120G>A (p.Glu374Lys) c.1297G>A (p.Glu433Lys) | gnomAD v4 |
| 15 | g.58563596G>C | CA392611874 | LIPC | c.1261G>C (p.Glu421Gln) c.1078G>C (p.Glu360Gln) n.1118G>C c.1198G>C (p.Glu400Gln) c.1120G>C (p.Glu374Gln) c.1297G>C (p.Glu433Gln) | |
| 15 | g.58563596G= | CA2180393541 | LIPC | c.1261G= (p.Glu421=) c.1078G= (p.Glu360=) n.1118G= c.1198G= (p.Glu400=) c.1120G= (p.Glu374=) c.1297G= (p.Glu433=) | |
| 15 | g.58563596G>T | CA392611875 | LIPC | c.1261G>T (p.Glu421Ter) c.1078G>T (p.Glu360Ter) n.1118G>T c.1198G>T (p.Glu400Ter) c.1120G>T (p.Glu374Ter) c.1297G>T (p.Glu433Ter) | dbSNP |
| 15 | g.58563597A>C | CA392611877 | LIPC | c.1262A>C (p.Glu421Ala) c.1079A>C (p.Glu360Ala) n.1119A>C c.1199A>C (p.Glu400Ala) c.1121A>C (p.Glu374Ala) c.1298A>C (p.Glu433Ala) | |
| 15 | g.58563597A>G | CA392611878 | LIPC | c.1262A>G (p.Glu421Gly) c.1079A>G (p.Glu360Gly) n.1119A>G c.1199A>G (p.Glu400Gly) c.1121A>G (p.Glu374Gly) c.1298A>G (p.Glu433Gly) | |
| 15 | g.58563597A>T | CA392611879 | LIPC | c.1262A>T (p.Glu421Val) c.1079A>T (p.Glu360Val) n.1119A>T c.1199A>T (p.Glu400Val) c.1121A>T (p.Glu374Val) c.1298A>T (p.Glu433Val) | |
| 15 | g.58563598A>C | CA392611880 | LIPC | c.1263A>C (p.Glu421Asp) c.1080A>C (p.Glu360Asp) n.1120A>C c.1200A>C (p.Glu400Asp) c.1122A>C (p.Glu374Asp) c.1299A>C (p.Glu433Asp) | |
| 15 | g.58563598A>G | CA490611575 | LIPC | c.1263A>G (p.Glu421=) c.1080A>G (p.Glu360=) n.1120A>G c.1200A>G (p.Glu400=) c.1122A>G (p.Glu374=) c.1299A>G (p.Glu433=) | |
| 15 | g.58563598A>T | CA392611881 | LIPC | c.1263A>T (p.Glu421Asp) c.1080A>T (p.Glu360Asp) n.1120A>T c.1200A>T (p.Glu400Asp) c.1122A>T (p.Glu374Asp) c.1299A>T (p.Glu433Asp) | |
| 15 | g.58563599A>C | CA392611882 | LIPC | c.1264A>C (p.Asn422His) c.1081A>C (p.Asn361His) n.1121A>C c.1201A>C (p.Asn401His) c.1123A>C (p.Asn375His) c.1300A>C (p.Asn434His) | |
| 15 | g.58563599A>G | CA392611883 | LIPC | c.1264A>G (p.Asn422Asp) c.1081A>G (p.Asn361Asp) n.1121A>G c.1201A>G (p.Asn401Asp) c.1123A>G (p.Asn375Asp) c.1300A>G (p.Asn434Asp) | |
| 15 | g.58563599A>T | CA392611884 | LIPC | c.1264A>T (p.Asn422Tyr) c.1081A>T (p.Asn361Tyr) n.1121A>T c.1201A>T (p.Asn401Tyr) c.1123A>T (p.Asn375Tyr) c.1300A>T (p.Asn434Tyr) | |
| 15 | g.58563600A= | CA2180393545 | LIPC | c.1265A= (p.Asn422=) c.1082A= (p.Asn361=) n.1122A= c.1202A= (p.Asn401=) c.1124A= (p.Asn375=) c.1301A= (p.Asn434=) | |
| 15 | g.58563600A>C | CA392611885 | LIPC | c.1265A>C (p.Asn422Thr) c.1082A>C (p.Asn361Thr) n.1122A>C c.1202A>C (p.Asn401Thr) c.1124A>C (p.Asn375Thr) c.1301A>C (p.Asn434Thr) | |
| 15 | g.58563600A>G | CA271701579 | LIPC | c.1265A>G (p.Asn422Ser) c.1082A>G (p.Asn361Ser) n.1122A>G c.1202A>G (p.Asn401Ser) c.1124A>G (p.Asn375Ser) c.1301A>G (p.Asn434Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563600A>T | CA392611886 | LIPC | c.1265A>T (p.Asn422Ile) c.1082A>T (p.Asn361Ile) n.1122A>T c.1202A>T (p.Asn401Ile) c.1124A>T (p.Asn375Ile) c.1301A>T (p.Asn434Ile) | |
| 15 | g.58563600_58563605delinsACAGTG | CA2180393544 | LIPC | c.1265_1270delinsACAGTG (p.Asn422=) c.1082_1087delinsACAGTG (p.Asn361=) n.1122_1127delinsACAGTG c.1202_1207delinsACAGTG (p.Asn401=) c.1124_1129delinsACAGTG (p.Asn375=) c.1301_1306delinsACAGTG (p.Asn434=) | |
| 15 | g.58563601C>A | CA392611888 | LIPC | c.1266C>A (p.Asn422Lys) c.1083C>A (p.Asn361Lys) n.1123C>A c.1203C>A (p.Asn401Lys) c.1125C>A (p.Asn375Lys) c.1302C>A (p.Asn434Lys) | |
| 15 | g.58563601C= | CA2180393549 | LIPC | c.1266C= (p.Asn422=) c.1083C= (p.Asn361=) n.1123C= c.1203C= (p.Asn401=) c.1125C= (p.Asn375=) c.1302C= (p.Asn434=) | |
| 15 | g.58563601C>G | CA392611887 | LIPC | c.1266C>G (p.Asn422Lys) c.1083C>G (p.Asn361Lys) n.1123C>G c.1203C>G (p.Asn401Lys) c.1125C>G (p.Asn375Lys) c.1302C>G (p.Asn434Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58563601C>T | CA490611577 | LIPC | c.1266C>T (p.Asn422=) c.1083C>T (p.Asn361=) n.1123C>T c.1203C>T (p.Asn401=) c.1125C>T (p.Asn375=) c.1302C>T (p.Asn434=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58563606_58563610del | CA7585183 | LIPC | c.1271_1275del (p.Ala424ValfsTer?) c.1088_1092del (p.Ala363ValfsTer?) n.1128_1132del c.1208_1212del (p.Ala403ValfsTer?) c.1130_1134del (p.Ala377ValfsTer?) c.1307_1311del (p.Ala436ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58563602A= | CA2180393553 | LIPC | c.1267A= (p.Ser423=) c.1084A= (p.Ser362=) n.1124A= c.1204A= (p.Ser402=) c.1126A= (p.Ser376=) c.1303A= (p.Ser435=) | |
| 15 | g.58563602A>C | CA392611889 | LIPC | c.1267A>C (p.Ser423Arg) c.1084A>C (p.Ser362Arg) n.1124A>C c.1204A>C (p.Ser402Arg) c.1126A>C (p.Ser376Arg) c.1303A>C (p.Ser435Arg) | |
| 15 | g.58563602A>G | CA392611890 | LIPC | c.1267A>G (p.Ser423Gly) c.1084A>G (p.Ser362Gly) n.1124A>G c.1204A>G (p.Ser402Gly) c.1126A>G (p.Ser376Gly) c.1303A>G (p.Ser435Gly) | gnomAD v4 |
| 15 | g.58563602A>T | CA271701586 | LIPC | c.1267A>T (p.Ser423Cys) c.1084A>T (p.Ser362Cys) n.1124A>T c.1204A>T (p.Ser402Cys) c.1126A>T (p.Ser376Cys) c.1303A>T (p.Ser435Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563603G>A | CA392611891 | LIPC | c.1268G>A (p.Ser423Asn) c.1085G>A (p.Ser362Asn) n.1125G>A c.1205G>A (p.Ser402Asn) c.1127G>A (p.Ser376Asn) c.1304G>A (p.Ser435Asn) | gnomAD v4 |
| 15 | g.58563603G>C | CA392611892 | LIPC | c.1268G>C (p.Ser423Thr) c.1085G>C (p.Ser362Thr) n.1125G>C c.1205G>C (p.Ser402Thr) c.1127G>C (p.Ser376Thr) c.1304G>C (p.Ser435Thr) | |
| 15 | g.58563603G= | CA2180393556 | LIPC | c.1268G= (p.Ser423=) c.1085G= (p.Ser362=) n.1125G= c.1205G= (p.Ser402=) c.1127G= (p.Ser376=) c.1304G= (p.Ser435=) | |
| 15 | g.58563603G>T | CA392611893 | LIPC | c.1268G>T (p.Ser423Ile) c.1085G>T (p.Ser362Ile) n.1125G>T c.1205G>T (p.Ser402Ile) c.1127G>T (p.Ser376Ile) c.1304G>T (p.Ser435Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58563604T>A | CA392611894 | LIPC | c.1269T>A (p.Ser423Arg) c.1086T>A (p.Ser362Arg) n.1126T>A c.1206T>A (p.Ser402Arg) c.1128T>A (p.Ser376Arg) c.1305T>A (p.Ser435Arg) | |
| 15 | g.58563604T>C | CA490611585 | LIPC | c.1269T>C (p.Ser423=) c.1086T>C (p.Ser362=) n.1126T>C c.1206T>C (p.Ser402=) c.1128T>C (p.Ser376=) c.1305T>C (p.Ser435=) | |
| 15 | g.58563604T>G | CA392611895 | LIPC | c.1269T>G (p.Ser423Arg) c.1086T>G (p.Ser362Arg) n.1126T>G c.1206T>G (p.Ser402Arg) c.1128T>G (p.Ser376Arg) c.1305T>G (p.Ser435Arg) | |
| 15 | g.58563605G>A | CA392611896 | LIPC | c.1270G>A (p.Ala424Thr) c.1087G>A (p.Ala363Thr) n.1127G>A c.1207G>A (p.Ala403Thr) c.1129G>A (p.Ala377Thr) c.1306G>A (p.Ala436Thr) | |
| 15 | g.58563605G>C | CA392611897 | LIPC | c.1270G>C (p.Ala424Pro) c.1087G>C (p.Ala363Pro) n.1127G>C c.1207G>C (p.Ala403Pro) c.1129G>C (p.Ala377Pro) c.1306G>C (p.Ala436Pro) | |
| 15 | g.58563605G>T | CA392611898 | LIPC | c.1270G>T (p.Ala424Ser) c.1087G>T (p.Ala363Ser) n.1127G>T c.1207G>T (p.Ala403Ser) c.1129G>T (p.Ala377Ser) c.1306G>T (p.Ala436Ser) | gnomAD v4 |
| 15 | g.58563606C>A | CA392611899 | LIPC | c.1271C>A (p.Ala424Glu) c.1088C>A (p.Ala363Glu) n.1128C>A c.1208C>A (p.Ala403Glu) c.1130C>A (p.Ala377Glu) c.1307C>A (p.Ala436Glu) | |
| 15 | g.58563606C>G | CA392611900 | LIPC | c.1271C>G (p.Ala424Gly) c.1088C>G (p.Ala363Gly) n.1128C>G c.1208C>G (p.Ala403Gly) c.1130C>G (p.Ala377Gly) c.1307C>G (p.Ala436Gly) | |
| 15 | g.58563606C>T | CA392611901 | LIPC | c.1271C>T (p.Ala424Val) c.1088C>T (p.Ala363Val) n.1128C>T c.1208C>T (p.Ala403Val) c.1130C>T (p.Ala377Val) c.1307C>T (p.Ala436Val) | gnomAD v4 |
| 15 | g.58563607A= | CA2180393558 | LIPC | c.1272A= (p.Ala424=) c.1089A= (p.Ala363=) n.1129A= c.1209A= (p.Ala403=) c.1131A= (p.Ala377=) c.1308A= (p.Ala436=) | |
| 15 | g.58563607A>C | CA490611590 | LIPC | c.1272A>C (p.Ala424=) c.1089A>C (p.Ala363=) n.1129A>C c.1209A>C (p.Ala403=) c.1131A>C (p.Ala377=) c.1308A>C (p.Ala436=) | |
| 15 | g.58563607A>G | CA7585184 | LIPC | c.1272A>G (p.Ala424=) c.1089A>G (p.Ala363=) n.1129A>G c.1209A>G (p.Ala403=) c.1131A>G (p.Ala377=) c.1308A>G (p.Ala436=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58563607A>T | CA490611593 | LIPC | c.1272A>T (p.Ala424=) c.1089A>T (p.Ala363=) n.1129A>T c.1209A>T (p.Ala403=) c.1131A>T (p.Ala377=) c.1308A>T (p.Ala436=) | |
| 15 | g.58563608G>A | CA392611902 | LIPC | c.1273G>A (p.Val425Met) c.1090G>A (p.Val364Met) n.1130G>A c.1210G>A (p.Val404Met) c.1132G>A (p.Val378Met) c.1309G>A (p.Val437Met) | |
| 15 | g.58563608G>C | CA271701594 | LIPC | c.1273G>C (p.Val425Leu) c.1090G>C (p.Val364Leu) n.1130G>C c.1210G>C (p.Val404Leu) c.1132G>C (p.Val378Leu) c.1309G>C (p.Val437Leu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.58563608G= | CA2180393563 | LIPC | c.1273G= (p.Val425=) c.1090G= (p.Val364=) n.1130G= c.1210G= (p.Val404=) c.1132G= (p.Val378=) c.1309G= (p.Val437=) | |
| 15 | g.58563608G>T | CA392611903 | LIPC | c.1273G>T (p.Val425Leu) c.1090G>T (p.Val364Leu) n.1130G>T c.1210G>T (p.Val404Leu) c.1132G>T (p.Val378Leu) c.1309G>T (p.Val437Leu) | |
| 15 | g.58563609T>A | CA392611904 | LIPC | c.1274T>A (p.Val425Glu) c.1091T>A (p.Val364Glu) n.1131T>A c.1211T>A (p.Val404Glu) c.1133T>A (p.Val378Glu) c.1310T>A (p.Val437Glu) | |
| 15 | g.58563609T>C | CA392611905 | LIPC | c.1274T>C (p.Val425Ala) c.1091T>C (p.Val364Ala) n.1131T>C c.1211T>C (p.Val404Ala) c.1133T>C (p.Val378Ala) c.1310T>C (p.Val437Ala) | dbSNP gnomAD v4 |
| 15 | g.58563609T>G | CA7585185 | LIPC | c.1274T>G (p.Val425Gly) c.1091T>G (p.Val364Gly) n.1131T>G c.1211T>G (p.Val404Gly) c.1133T>G (p.Val378Gly) c.1310T>G (p.Val437Gly) | dbSNP ExAC gnomAD v2 |
| 15 | g.58563609T= | CA2180393568 | LIPC | c.1274T= (p.Val425=) c.1091T= (p.Val364=) n.1131T= c.1211T= (p.Val404=) c.1133T= (p.Val378=) c.1310T= (p.Val437=) | |
| 15 | g.58563610G>A | CA490611595 | LIPC | c.1275G>A (p.Val425=) c.1092G>A (p.Val364=) n.1132G>A c.1212G>A (p.Val404=) c.1134G>A (p.Val378=) c.1311G>A (p.Val437=) | gnomAD v4 |
| 15 | g.58563610G>C | CA490611596 | LIPC | c.1275G>C (p.Val425=) c.1092G>C (p.Val364=) n.1132G>C c.1212G>C (p.Val404=) c.1134G>C (p.Val378=) c.1311G>C (p.Val437=) | |
| 15 | g.58563610G>T | CA490611597 | LIPC | c.1275G>T (p.Val425=) c.1092G>T (p.Val364=) n.1132G>T c.1212G>T (p.Val404=) c.1134G>T (p.Val378=) c.1311G>T (p.Val437=) | |
| 15 | g.58563611T>A | CA392611906 | LIPC | c.1276T>A (p.Trp426Arg) c.1093T>A (p.Trp365Arg) n.1133T>A c.1213T>A (p.Trp405Arg) c.1135T>A (p.Trp379Arg) c.1312T>A (p.Trp438Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58563611T>C | CA392611907 | LIPC | c.1276T>C (p.Trp426Arg) c.1093T>C (p.Trp365Arg) n.1133T>C c.1213T>C (p.Trp405Arg) c.1135T>C (p.Trp379Arg) c.1312T>C (p.Trp438Arg) | gnomAD v4 |
| 15 | g.58563611T>G | CA392611908 | LIPC | c.1276T>G (p.Trp426Gly) c.1093T>G (p.Trp365Gly) n.1133T>G c.1213T>G (p.Trp405Gly) c.1135T>G (p.Trp379Gly) c.1312T>G (p.Trp438Gly) | |
| 15 | g.58563611T= | CA2180393571 | LIPC | c.1276T= (p.Trp426=) c.1093T= (p.Trp365=) n.1133T= c.1213T= (p.Trp405=) c.1135T= (p.Trp379=) c.1312T= (p.Trp438=) | |
| 15 | g.58563612G>A | CA392611909 | LIPC | c.1277G>A (p.Trp426Ter) c.1094G>A (p.Trp365Ter) n.1134G>A c.1214G>A (p.Trp405Ter) c.1136G>A (p.Trp379Ter) c.1313G>A (p.Trp438Ter) | |
| 15 | g.58563612G>C | CA392611910 | LIPC | c.1277G>C (p.Trp426Ser) c.1094G>C (p.Trp365Ser) n.1134G>C c.1214G>C (p.Trp405Ser) c.1136G>C (p.Trp379Ser) c.1313G>C (p.Trp438Ser) | gnomAD v4 |
| 15 | g.58563612G>T | CA392611911 | LIPC | c.1277G>T (p.Trp426Leu) c.1094G>T (p.Trp365Leu) n.1134G>T c.1214G>T (p.Trp405Leu) c.1136G>T (p.Trp379Leu) c.1313G>T (p.Trp438Leu) | |
| 15 | g.58563613G>A | CA392611914 | LIPC | c.1278G>A (p.Trp426Ter) c.1095G>A (p.Trp365Ter) n.1135G>A c.1215G>A (p.Trp405Ter) c.1137G>A (p.Trp379Ter) c.1314G>A (p.Trp438Ter) | |
| 15 | g.58563613G>C | CA392611913 | LIPC | c.1278G>C (p.Trp426Cys) c.1095G>C (p.Trp365Cys) n.1135G>C c.1215G>C (p.Trp405Cys) c.1137G>C (p.Trp379Cys) c.1314G>C (p.Trp438Cys) | |
| 15 | g.58563613G>T | CA392611912 | LIPC | c.1278G>T (p.Trp426Cys) c.1095G>T (p.Trp365Cys) n.1135G>T c.1215G>T (p.Trp405Cys) c.1137G>T (p.Trp379Cys) c.1314G>T (p.Trp438Cys) | |
| 15 | g.58563614G>A | CA271701596 | LIPC | c.1279G>A (p.Ala427Thr) c.1096G>A (p.Ala366Thr) n.1136G>A c.1216G>A (p.Ala406Thr) c.1138G>A (p.Ala380Thr) c.1315G>A (p.Ala439Thr) | dbSNP |
| 15 | g.58563614G>C | CA392611916 | LIPC | c.1279G>C (p.Ala427Pro) c.1096G>C (p.Ala366Pro) n.1136G>C c.1216G>C (p.Ala406Pro) c.1138G>C (p.Ala380Pro) c.1315G>C (p.Ala439Pro) | |
| 15 | g.58563614G= | CA2180393574 | LIPC | c.1279G= (p.Ala427=) c.1096G= (p.Ala366=) n.1136G= c.1216G= (p.Ala406=) c.1138G= (p.Ala380=) c.1315G= (p.Ala439=) | |
| 15 | g.58563614G>T | CA392611915 | LIPC | c.1279G>T (p.Ala427Ser) c.1096G>T (p.Ala366Ser) n.1136G>T c.1216G>T (p.Ala406Ser) c.1138G>T (p.Ala380Ser) c.1315G>T (p.Ala439Ser) | |
| 15 | g.58563615C>A | CA392611917 | LIPC | c.1280C>A (p.Ala427Asp) c.1097C>A (p.Ala366Asp) n.1137C>A c.1217C>A (p.Ala406Asp) c.1139C>A (p.Ala380Asp) c.1316C>A (p.Ala439Asp) | |
| 15 | g.58563615C= | CA2180393576 | LIPC | c.1280C= (p.Ala427=) c.1097C= (p.Ala366=) n.1137C= c.1217C= (p.Ala406=) c.1139C= (p.Ala380=) c.1316C= (p.Ala439=) | |
| 15 | g.58563615C>G | CA392611918 | LIPC | c.1280C>G (p.Ala427Gly) c.1097C>G (p.Ala366Gly) n.1137C>G c.1217C>G (p.Ala406Gly) c.1139C>G (p.Ala380Gly) c.1316C>G (p.Ala439Gly) | |
| 15 | g.58563615C>T | CA392611919 | LIPC | c.1280C>T (p.Ala427Val) c.1097C>T (p.Ala366Val) n.1137C>T c.1217C>T (p.Ala406Val) c.1139C>T (p.Ala380Val) c.1316C>T (p.Ala439Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.58563616C>A | CA490611614 | LIPC | c.1281C>A (p.Ala427=) c.1098C>A (p.Ala366=) n.1138C>A c.1218C>A (p.Ala406=) c.1140C>A (p.Ala380=) c.1317C>A (p.Ala439=) | |
| 15 | g.58563616C= | CA2180393579 | LIPC | c.1281C= (p.Ala427=) c.1098C= (p.Ala366=) n.1138C= c.1218C= (p.Ala406=) c.1140C= (p.Ala380=) c.1317C= (p.Ala439=) | |
| 15 | g.58563616C>G | CA490611615 | LIPC | c.1281C>G (p.Ala427=) c.1098C>G (p.Ala366=) n.1138C>G c.1218C>G (p.Ala406=) c.1140C>G (p.Ala380=) c.1317C>G (p.Ala439=) | |
| 15 | g.58563616C>T | CA7585186 | LIPC | c.1281C>T (p.Ala427=) c.1098C>T (p.Ala366=) n.1138C>T c.1218C>T (p.Ala406=) c.1140C>T (p.Ala380=) c.1317C>T (p.Ala439=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563617A>C | CA392611920 | LIPC | c.1282A>C (p.Asn428His) c.1099A>C (p.Asn367His) n.1139A>C c.1219A>C (p.Asn407His) c.1141A>C (p.Asn381His) c.1318A>C (p.Asn440His) | |
| 15 | g.58563617A>G | CA392611921 | LIPC | c.1282A>G (p.Asn428Asp) c.1099A>G (p.Asn367Asp) n.1139A>G c.1219A>G (p.Asn407Asp) c.1141A>G (p.Asn381Asp) c.1318A>G (p.Asn440Asp) | |
| 15 | g.58563617A>T | CA392611922 | LIPC | c.1282A>T (p.Asn428Tyr) c.1099A>T (p.Asn367Tyr) n.1139A>T c.1219A>T (p.Asn407Tyr) c.1141A>T (p.Asn381Tyr) c.1318A>T (p.Asn440Tyr) | |
| 15 | g.58563618A= | CA2180393581 | LIPC | c.1283A= (p.Asn428=) c.1100A= (p.Asn367=) n.1140A= c.1220A= (p.Asn407=) c.1142A= (p.Asn381=) c.1319A= (p.Asn440=) | |
| 15 | g.58563618A>C | CA7585187 | LIPC | c.1283A>C (p.Asn428Thr) c.1100A>C (p.Asn367Thr) n.1140A>C c.1220A>C (p.Asn407Thr) c.1142A>C (p.Asn381Thr) c.1319A>C (p.Asn440Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563618A>G | CA392611923 | LIPC | c.1283A>G (p.Asn428Ser) c.1100A>G (p.Asn367Ser) n.1140A>G c.1220A>G (p.Asn407Ser) c.1142A>G (p.Asn381Ser) c.1319A>G (p.Asn440Ser) | |
| 15 | g.58563618A>T | CA392611924 | LIPC | c.1283A>T (p.Asn428Ile) c.1100A>T (p.Asn367Ile) n.1140A>T c.1220A>T (p.Asn407Ile) c.1142A>T (p.Asn381Ile) c.1319A>T (p.Asn440Ile) | |
| 15 | g.58563619T>A | CA392611925 | LIPC | c.1284T>A (p.Asn428Lys) c.1101T>A (p.Asn367Lys) n.1141T>A c.1221T>A (p.Asn407Lys) c.1143T>A (p.Asn381Lys) c.1320T>A (p.Asn440Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58563619T>C | CA7585188 | LIPC | c.1284T>C (p.Asn428=) c.1101T>C (p.Asn367=) n.1141T>C c.1221T>C (p.Asn407=) c.1143T>C (p.Asn381=) c.1320T>C (p.Asn440=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563619T>G | CA392611926 | LIPC | c.1284T>G (p.Asn428Lys) c.1101T>G (p.Asn367Lys) n.1141T>G c.1221T>G (p.Asn407Lys) c.1143T>G (p.Asn381Lys) c.1320T>G (p.Asn440Lys) | |
| 15 | g.58563619T= | CA2180393585 | LIPC | c.1284T= (p.Asn428=) c.1101T= (p.Asn367=) n.1141T= c.1221T= (p.Asn407=) c.1143T= (p.Asn381=) c.1320T= (p.Asn440=) | |
| 15 | g.58563620G>A | CA392611929 | LIPC | c.1285G>A (p.Val429Ile) c.1102G>A (p.Val368Ile) n.1142G>A c.1222G>A (p.Val408Ile) c.1144G>A (p.Val382Ile) c.1321G>A (p.Val441Ile) | |
| 15 | g.58563620G>C | CA392611927 | LIPC | c.1285G>C (p.Val429Leu) c.1102G>C (p.Val368Leu) n.1142G>C c.1222G>C (p.Val408Leu) c.1144G>C (p.Val382Leu) c.1321G>C (p.Val441Leu) | |
| 15 | g.58563620G>T | CA392611928 | LIPC | c.1285G>T (p.Val429Phe) c.1102G>T (p.Val368Phe) n.1142G>T c.1222G>T (p.Val408Phe) c.1144G>T (p.Val382Phe) c.1321G>T (p.Val441Phe) | |
| 15 | g.58563621T>A | CA392611930 | LIPC | c.1286T>A (p.Val429Asp) c.1103T>A (p.Val368Asp) n.1143T>A c.1223T>A (p.Val408Asp) c.1145T>A (p.Val382Asp) c.1322T>A (p.Val441Asp) | gnomAD v4 |
| 15 | g.58563621T>C | CA392611931 | LIPC | c.1286T>C (p.Val429Ala) c.1103T>C (p.Val368Ala) n.1143T>C c.1223T>C (p.Val408Ala) c.1145T>C (p.Val382Ala) c.1322T>C (p.Val441Ala) | gnomAD v4 |
| 15 | g.58563621T>G | CA392611932 | LIPC | c.1286T>G (p.Val429Gly) c.1103T>G (p.Val368Gly) n.1143T>G c.1223T>G (p.Val408Gly) c.1145T>G (p.Val382Gly) c.1322T>G (p.Val441Gly) | |
| 15 | g.58563622C>A | CA490611622 | LIPC | c.1287C>A (p.Val429=) c.1104C>A (p.Val368=) n.1144C>A c.1224C>A (p.Val408=) c.1146C>A (p.Val382=) c.1323C>A (p.Val441=) | |
| 15 | g.58563622C= | CA2180393592 | LIPC | c.1287C= (p.Val429=) c.1104C= (p.Val368=) n.1144C= c.1224C= (p.Val408=) c.1146C= (p.Val382=) c.1323C= (p.Val441=) | |
| 15 | g.58563622C>G | CA490611624 | LIPC | c.1287C>G (p.Val429=) c.1104C>G (p.Val368=) n.1144C>G c.1224C>G (p.Val408=) c.1146C>G (p.Val382=) c.1323C>G (p.Val441=) | dbSNP |
| 15 | g.58563622C>T | CA490611623 | LIPC | c.1287C>T (p.Val429=) c.1104C>T (p.Val368=) n.1144C>T c.1224C>T (p.Val408=) c.1146C>T (p.Val382=) c.1323C>T (p.Val441=) | |
| 15 | g.58563623T>A | CA392611933 | LIPC | c.1288T>A (p.Trp430Arg) c.1105T>A (p.Trp369Arg) n.1145T>A c.1225T>A (p.Trp409Arg) c.1147T>A (p.Trp383Arg) c.1324T>A (p.Trp442Arg) | |
| 15 | g.58563623T>C | CA392611934 | LIPC | c.1288T>C (p.Trp430Arg) c.1105T>C (p.Trp369Arg) n.1145T>C c.1225T>C (p.Trp409Arg) c.1147T>C (p.Trp383Arg) c.1324T>C (p.Trp442Arg) | |
| 15 | g.58563623T>G | CA392611935 | LIPC | c.1288T>G (p.Trp430Gly) c.1105T>G (p.Trp369Gly) n.1145T>G c.1225T>G (p.Trp409Gly) c.1147T>G (p.Trp383Gly) c.1324T>G (p.Trp442Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58563623T= | CA2180393596 | LIPC | c.1288T= (p.Trp430=) c.1105T= (p.Trp369=) n.1145T= c.1225T= (p.Trp409=) c.1147T= (p.Trp383=) c.1324T= (p.Trp442=) | |
| 15 | g.58563624G>A | CA392611936 | LIPC | c.1289G>A (p.Trp430Ter) c.1106G>A (p.Trp369Ter) n.1146G>A c.1226G>A (p.Trp409Ter) c.1148G>A (p.Trp383Ter) c.1325G>A (p.Trp442Ter) | gnomAD v4 |
| 15 | g.58563624G>C | CA271701632 | LIPC | c.1289G>C (p.Trp430Ser) c.1106G>C (p.Trp369Ser) n.1146G>C c.1226G>C (p.Trp409Ser) c.1148G>C (p.Trp383Ser) c.1325G>C (p.Trp442Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58563624G= | CA2180393600 | LIPC | c.1289G= (p.Trp430=) c.1106G= (p.Trp369=) n.1146G= c.1226G= (p.Trp409=) c.1148G= (p.Trp383=) c.1325G= (p.Trp442=) | |
| 15 | g.58563624G>T | CA392611937 | LIPC | c.1289G>T (p.Trp430Leu) c.1106G>T (p.Trp369Leu) n.1146G>T c.1226G>T (p.Trp409Leu) c.1148G>T (p.Trp383Leu) c.1325G>T (p.Trp442Leu) | |
| 15 | g.58563625G>A | CA392611938 | LIPC | c.1290G>A (p.Trp430Ter) c.1107G>A (p.Trp369Ter) n.1147G>A c.1227G>A (p.Trp409Ter) c.1149G>A (p.Trp383Ter) c.1326G>A (p.Trp442Ter) | gnomAD v4 |
| 15 | g.58563625G>C | CA392611939 | LIPC | c.1290G>C (p.Trp430Cys) c.1107G>C (p.Trp369Cys) n.1147G>C c.1227G>C (p.Trp409Cys) c.1149G>C (p.Trp383Cys) c.1326G>C (p.Trp442Cys) | |
| 15 | g.58563625G>T | CA392611940 | LIPC | c.1290G>T (p.Trp430Cys) c.1107G>T (p.Trp369Cys) n.1147G>T c.1227G>T (p.Trp409Cys) c.1149G>T (p.Trp383Cys) c.1326G>T (p.Trp442Cys) | |
| 15 | g.58563626G>A | CA392611941 | LIPC | c.1291G>A (p.Asp431Asn) c.1108G>A (p.Asp370Asn) n.1148G>A c.1228G>A (p.Asp410Asn) c.1150G>A (p.Asp384Asn) c.1327G>A (p.Asp443Asn) | dbSNP |
| 15 | g.58563626G>C | CA392611943 | LIPC | c.1291G>C (p.Asp431His) c.1108G>C (p.Asp370His) n.1148G>C c.1228G>C (p.Asp410His) c.1150G>C (p.Asp384His) c.1327G>C (p.Asp443His) | |
| 15 | g.58563626G= | CA2180393603 | LIPC | c.1291G= (p.Asp431=) c.1108G= (p.Asp370=) n.1148G= c.1228G= (p.Asp410=) c.1150G= (p.Asp384=) c.1327G= (p.Asp443=) | |
| 15 | g.58563626G>T | CA392611942 | LIPC | c.1291G>T (p.Asp431Tyr) c.1108G>T (p.Asp370Tyr) n.1148G>T c.1228G>T (p.Asp410Tyr) c.1150G>T (p.Asp384Tyr) c.1327G>T (p.Asp443Tyr) | |
| 15 | g.58563627A>C | CA392611944 | LIPC | c.1292A>C (p.Asp431Ala) c.1109A>C (p.Asp370Ala) n.1149A>C c.1229A>C (p.Asp410Ala) c.1151A>C (p.Asp384Ala) c.1328A>C (p.Asp443Ala) | |
| 15 | g.58563627A>G | CA392611945 | LIPC | c.1292A>G (p.Asp431Gly) c.1109A>G (p.Asp370Gly) n.1149A>G c.1229A>G (p.Asp410Gly) c.1151A>G (p.Asp384Gly) c.1328A>G (p.Asp443Gly) | |
| 15 | g.58563627A>T | CA392611946 | LIPC | c.1292A>T (p.Asp431Val) c.1109A>T (p.Asp370Val) n.1149A>T c.1229A>T (p.Asp410Val) c.1151A>T (p.Asp384Val) c.1328A>T (p.Asp443Val) | |
| 15 | g.58563628C>A | CA392611947 | LIPC | c.1293C>A (p.Asp431Glu) c.1110C>A (p.Asp370Glu) n.1150C>A c.1230C>A (p.Asp410Glu) c.1152C>A (p.Asp384Glu) c.1329C>A (p.Asp443Glu) | |
| 15 | g.58563628C>G | CA392611948 | LIPC | c.1293C>G (p.Asp431Glu) c.1110C>G (p.Asp370Glu) n.1150C>G c.1230C>G (p.Asp410Glu) c.1152C>G (p.Asp384Glu) c.1329C>G (p.Asp443Glu) | gnomAD v4 |
| 15 | g.58563628C>T | CA490611630 | LIPC | c.1293C>T (p.Asp431=) c.1110C>T (p.Asp370=) n.1150C>T c.1230C>T (p.Asp410=) c.1152C>T (p.Asp384=) c.1329C>T (p.Asp443=) | |
| 15 | g.58563629A>C | CA392611949 | LIPC | c.1294A>C (p.Thr432Pro) c.1111A>C (p.Thr371Pro) n.1151A>C c.1231A>C (p.Thr411Pro) c.1153A>C (p.Thr385Pro) c.1330A>C (p.Thr444Pro) | |
| 15 | g.58563629A>G | CA392611950 | LIPC | c.1294A>G (p.Thr432Ala) c.1111A>G (p.Thr371Ala) n.1151A>G c.1231A>G (p.Thr411Ala) c.1153A>G (p.Thr385Ala) c.1330A>G (p.Thr444Ala) | |
| 15 | g.58563629A>T | CA392611951 | LIPC | c.1294A>T (p.Thr432Ser) c.1111A>T (p.Thr371Ser) n.1151A>T c.1231A>T (p.Thr411Ser) c.1153A>T (p.Thr385Ser) c.1330A>T (p.Thr444Ser) | |
| 15 | g.58563630C>A | CA392611952 | LIPC | c.1295C>A (p.Thr432Lys) c.1112C>A (p.Thr371Lys) n.1152C>A c.1232C>A (p.Thr411Lys) c.1154C>A (p.Thr385Lys) c.1331C>A (p.Thr444Lys) | |
| 15 | g.58563630C= | CA2180393606 | LIPC | c.1295C= (p.Thr432=) c.1112C= (p.Thr371=) n.1152C= c.1232C= (p.Thr411=) c.1154C= (p.Thr385=) c.1331C= (p.Thr444=) | |
| 15 | g.58563630C>G | CA392611953 | LIPC | c.1295C>G (p.Thr432Arg) c.1112C>G (p.Thr371Arg) n.1152C>G c.1232C>G (p.Thr411Arg) c.1154C>G (p.Thr385Arg) c.1331C>G (p.Thr444Arg) | COSMIC |
| 15 | g.58563630C>T | CA7585189 | LIPC | c.1295C>T (p.Thr432Met) c.1112C>T (p.Thr371Met) n.1152C>T c.1232C>T (p.Thr411Met) c.1154C>T (p.Thr385Met) c.1331C>T (p.Thr444Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563631G>A | CA7585190 | LIPC | c.1296G>A (p.Thr432=) c.1113G>A (p.Thr371=) n.1153G>A c.1233G>A (p.Thr411=) c.1155G>A (p.Thr385=) c.1332G>A (p.Thr444=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563631G>C | CA490611637 | LIPC | c.1296G>C (p.Thr432=) c.1113G>C (p.Thr371=) n.1153G>C c.1233G>C (p.Thr411=) c.1155G>C (p.Thr385=) c.1332G>C (p.Thr444=) | |
| 15 | g.58563631G= | CA2180393615 | LIPC | c.1296G= (p.Thr432=) c.1113G= (p.Thr371=) n.1153G= c.1233G= (p.Thr411=) c.1155G= (p.Thr385=) c.1332G= (p.Thr444=) | |
| 15 | g.58563631G>T | CA490611638 | LIPC | c.1296G>T (p.Thr432=) c.1113G>T (p.Thr371=) n.1153G>T c.1233G>T (p.Thr411=) c.1155G>T (p.Thr385=) c.1332G>T (p.Thr444=) | |
| 15 | g.58563632G>A | CA392611956 | LIPC | c.1297G>A (p.Val433Ile) c.1114G>A (p.Val372Ile) n.1154G>A c.1234G>A (p.Val412Ile) c.1156G>A (p.Val386Ile) c.1333G>A (p.Val445Ile) | gnomAD v4 COSMIC |
| 15 | g.58563632G>C | CA392611954 | LIPC | c.1297G>C (p.Val433Leu) c.1114G>C (p.Val372Leu) n.1154G>C c.1234G>C (p.Val412Leu) c.1156G>C (p.Val386Leu) c.1333G>C (p.Val445Leu) | |
| 15 | g.58563632G>T | CA392611955 | LIPC | c.1297G>T (p.Val433Phe) c.1114G>T (p.Val372Phe) n.1154G>T c.1234G>T (p.Val412Phe) c.1156G>T (p.Val386Phe) c.1333G>T (p.Val445Phe) | gnomAD v4 |
| 15 | g.58563633T>A | CA392611957 | LIPC | c.1298T>A (p.Val433Asp) c.1115T>A (p.Val372Asp) n.1155T>A c.1235T>A (p.Val412Asp) c.1157T>A (p.Val386Asp) c.1334T>A (p.Val445Asp) | |
| 15 | g.58563633T>C | CA392611958 | LIPC | c.1298T>C (p.Val433Ala) c.1115T>C (p.Val372Ala) n.1155T>C c.1235T>C (p.Val412Ala) c.1157T>C (p.Val386Ala) c.1334T>C (p.Val445Ala) | |
| 15 | g.58563633T>G | CA392611959 | LIPC | c.1298T>G (p.Val433Gly) c.1115T>G (p.Val372Gly) n.1155T>G c.1235T>G (p.Val412Gly) c.1157T>G (p.Val386Gly) c.1334T>G (p.Val445Gly) | |
| 15 | g.58563634C>A | CA490611645 | LIPC | c.1299C>A (p.Val433=) c.1116C>A (p.Val372=) n.1156C>A c.1236C>A (p.Val412=) c.1158C>A (p.Val386=) c.1335C>A (p.Val445=) | |
| 15 | g.58563634C= | CA2180393618 | LIPC | c.1299C= (p.Val433=) c.1116C= (p.Val372=) n.1156C= c.1236C= (p.Val412=) c.1158C= (p.Val386=) c.1335C= (p.Val445=) | |
| 15 | g.58563634C>G | CA490611649 | LIPC | c.1299C>G (p.Val433=) c.1116C>G (p.Val372=) n.1156C>G c.1236C>G (p.Val412=) c.1158C>G (p.Val386=) c.1335C>G (p.Val445=) | dbSNP |
| 15 | g.58563634C>T | CA490611646 | LIPC | c.1299C>T (p.Val433=) c.1116C>T (p.Val372=) n.1156C>T c.1236C>T (p.Val412=) c.1158C>T (p.Val386=) c.1335C>T (p.Val445=) | gnomAD v4 |
| 15 | g.58563635C>A | CA392611960 | LIPC | c.1300C>A (p.Gln434Lys) c.1117C>A (p.Gln373Lys) n.1157C>A c.1237C>A (p.Gln413Lys) c.1159C>A (p.Gln387Lys) c.1336C>A (p.Gln446Lys) | |
| 15 | g.58563635C>G | CA392611961 | LIPC | c.1300C>G (p.Gln434Glu) c.1117C>G (p.Gln373Glu) n.1157C>G c.1237C>G (p.Gln413Glu) c.1159C>G (p.Gln387Glu) c.1336C>G (p.Gln446Glu) | |
| 15 | g.58563635C>T | CA392611962 | LIPC | c.1300C>T (p.Gln434Ter) c.1117C>T (p.Gln373Ter) n.1157C>T c.1237C>T (p.Gln413Ter) c.1159C>T (p.Gln387Ter) c.1336C>T (p.Gln446Ter) | |
| 15 | g.58563636A>C | CA392611963 | LIPC | c.1301A>C (p.Gln434Pro) c.1118A>C (p.Gln373Pro) n.1158A>C c.1238A>C (p.Gln413Pro) c.1160A>C (p.Gln387Pro) c.1337A>C (p.Gln446Pro) | |
| 15 | g.58563636A>G | CA392611964 | LIPC | c.1301A>G (p.Gln434Arg) c.1118A>G (p.Gln373Arg) n.1158A>G c.1238A>G (p.Gln413Arg) c.1160A>G (p.Gln387Arg) c.1337A>G (p.Gln446Arg) | |
| 15 | g.58563636A>T | CA392611965 | LIPC | c.1301A>T (p.Gln434Leu) c.1118A>T (p.Gln373Leu) n.1158A>T c.1238A>T (p.Gln413Leu) c.1160A>T (p.Gln387Leu) c.1337A>T (p.Gln446Leu) | |
| 15 | g.58563637G>A | CA490611656 | LIPC | c.1302G>A (p.Gln434=) c.1119G>A (p.Gln373=) n.1159G>A c.1239G>A (p.Gln413=) c.1161G>A (p.Gln387=) c.1338G>A (p.Gln446=) | gnomAD v4 |
| 15 | g.58563637G>C | CA392611966 | LIPC | c.1302G>C (p.Gln434His) c.1119G>C (p.Gln373His) n.1159G>C c.1239G>C (p.Gln413His) c.1161G>C (p.Gln387His) c.1338G>C (p.Gln446His) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58563637G= | CA2180393621 | LIPC | c.1302G= (p.Gln434=) c.1119G= (p.Gln373=) n.1159G= c.1239G= (p.Gln413=) c.1161G= (p.Gln387=) c.1338G= (p.Gln446=) | |
| 15 | g.58563637G>T | CA392611967 | LIPC | c.1302G>T (p.Gln434His) c.1119G>T (p.Gln373His) n.1159G>T c.1239G>T (p.Gln413His) c.1161G>T (p.Gln387His) c.1338G>T (p.Gln446His) | |
| 15 | g.58563638A>C | CA392611969 | LIPC | c.1303A>C (p.Thr435Pro) c.1120A>C (p.Thr374Pro) n.1160A>C c.1240A>C (p.Thr414Pro) c.1162A>C (p.Thr388Pro) c.1339A>C (p.Thr447Pro) | |
| 15 | g.58563638A>G | CA392611970 | LIPC | c.1303A>G (p.Thr435Ala) c.1120A>G (p.Thr374Ala) n.1160A>G c.1240A>G (p.Thr414Ala) c.1162A>G (p.Thr388Ala) c.1339A>G (p.Thr447Ala) | |
| 15 | g.58563638A>T | CA392611968 | LIPC | c.1303A>T (p.Thr435Ser) c.1120A>T (p.Thr374Ser) n.1160A>T c.1240A>T (p.Thr414Ser) c.1162A>T (p.Thr388Ser) c.1339A>T (p.Thr447Ser) | |
| 15 | g.58563639C>A | CA392611973 | LIPC | c.1304C>A (p.Thr435Asn) c.1121C>A (p.Thr374Asn) n.1161C>A c.1241C>A (p.Thr414Asn) c.1163C>A (p.Thr388Asn) c.1340C>A (p.Thr447Asn) | |
| 15 | g.58563639C>G | CA392611971 | LIPC | c.1304C>G (p.Thr435Ser) c.1121C>G (p.Thr374Ser) n.1161C>G c.1241C>G (p.Thr414Ser) c.1163C>G (p.Thr388Ser) c.1340C>G (p.Thr447Ser) | |
| 15 | g.58563639C>T | CA392611972 | LIPC | c.1304C>T (p.Thr435Ile) c.1121C>T (p.Thr374Ile) n.1161C>T c.1241C>T (p.Thr414Ile) c.1163C>T (p.Thr388Ile) c.1340C>T (p.Thr447Ile) | |
| 15 | g.58563640C>A | CA490611663 | LIPC | c.1305C>A (p.Thr435=) c.1122C>A (p.Thr374=) n.1162C>A c.1242C>A (p.Thr414=) c.1164C>A (p.Thr388=) c.1341C>A (p.Thr447=) | |
| 15 | g.58563640C>G | CA490611666 | LIPC | c.1305C>G (p.Thr435=) c.1122C>G (p.Thr374=) n.1162C>G c.1242C>G (p.Thr414=) c.1164C>G (p.Thr388=) c.1341C>G (p.Thr447=) | |
| 15 | g.58563640C>T | CA490611667 | LIPC | c.1305C>T (p.Thr435=) c.1122C>T (p.Thr374=) n.1162C>T c.1242C>T (p.Thr414=) c.1164C>T (p.Thr388=) c.1341C>T (p.Thr447=) | dbSNP |
| 15 | g.58563641del | CA2628683221 | LIPC | c.1306del (p.Ile436SerfsTer15) c.1123del (p.Ile375SerfsTer15) n.1163del c.1243del (p.Ile415SerfsTer15) c.1165del (p.Ile389SerfsTer15) c.1342del (p.Ile448SerfsTer15) | gnomAD v4 |
| 15 | g.58563641A= | CA2180393623 | LIPC | c.1306A= (p.Ile436=) c.1123A= (p.Ile375=) n.1163A= c.1243A= (p.Ile415=) c.1165A= (p.Ile389=) c.1342A= (p.Ile448=) | |
| 15 | g.58563641A>C | CA392611974 | LIPC | c.1306A>C (p.Ile436Leu) c.1123A>C (p.Ile375Leu) n.1163A>C c.1243A>C (p.Ile415Leu) c.1165A>C (p.Ile389Leu) c.1342A>C (p.Ile448Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58563641A>G | CA392611975 | LIPC | c.1306A>G (p.Ile436Val) c.1123A>G (p.Ile375Val) n.1163A>G c.1243A>G (p.Ile415Val) c.1165A>G (p.Ile389Val) c.1342A>G (p.Ile448Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58563641A>T | CA392611976 | LIPC | c.1306A>T (p.Ile436Phe) c.1123A>T (p.Ile375Phe) n.1163A>T c.1243A>T (p.Ile415Phe) c.1165A>T (p.Ile389Phe) c.1342A>T (p.Ile448Phe) | |
| 15 | g.58563642T>A | CA392611977 | LIPC | c.1307T>A (p.Ile436Asn) c.1124T>A (p.Ile375Asn) n.1164T>A c.1244T>A (p.Ile415Asn) c.1166T>A (p.Ile389Asn) c.1343T>A (p.Ile448Asn) | |
| 15 | g.58563642T>C | CA392611978 | LIPC | c.1307T>C (p.Ile436Thr) c.1124T>C (p.Ile375Thr) n.1164T>C c.1244T>C (p.Ile415Thr) c.1166T>C (p.Ile389Thr) c.1343T>C (p.Ile448Thr) | |
| 15 | g.58563642T>G | CA392611979 | LIPC | c.1307T>G (p.Ile436Ser) c.1124T>G (p.Ile375Ser) n.1164T>G c.1244T>G (p.Ile415Ser) c.1166T>G (p.Ile389Ser) c.1343T>G (p.Ile448Ser) | |
| 15 | g.58563643C>A | CA490611672 | LIPC | c.1308C>A (p.Ile436=) c.1125C>A (p.Ile375=) n.1165C>A c.1245C>A (p.Ile415=) c.1167C>A (p.Ile389=) c.1344C>A (p.Ile448=) | |
| 15 | g.58563643C>G | CA392611980 | LIPC | c.1308C>G (p.Ile436Met) c.1125C>G (p.Ile375Met) n.1165C>G c.1245C>G (p.Ile415Met) c.1167C>G (p.Ile389Met) c.1344C>G (p.Ile448Met) | gnomAD v4 |
| 15 | g.58563643C>T | CA490611677 | LIPC | c.1308C>T (p.Ile436=) c.1125C>T (p.Ile375=) n.1165C>T c.1245C>T (p.Ile415=) c.1167C>T (p.Ile389=) c.1344C>T (p.Ile448=) | |
| 15 | g.58563644A>C | CA392611981 | LIPC | c.1309A>C (p.Ile437Leu) c.1126A>C (p.Ile376Leu) n.1166A>C c.1246A>C (p.Ile416Leu) c.1168A>C (p.Ile390Leu) c.1345A>C (p.Ile449Leu) | |
| 15 | g.58563644A>G | CA392611982 | LIPC | c.1309A>G (p.Ile437Val) c.1126A>G (p.Ile376Val) n.1166A>G c.1246A>G (p.Ile416Val) c.1168A>G (p.Ile390Val) c.1345A>G (p.Ile449Val) | |
| 15 | g.58563644A>T | CA392611983 | LIPC | c.1309A>T (p.Ile437Phe) c.1126A>T (p.Ile376Phe) n.1166A>T c.1246A>T (p.Ile416Phe) c.1168A>T (p.Ile390Phe) c.1345A>T (p.Ile449Phe) | |
| 15 | g.58563645T>A | CA392611986 | LIPC | c.1310T>A (p.Ile437Asn) c.1127T>A (p.Ile376Asn) n.1167T>A c.1247T>A (p.Ile416Asn) c.1169T>A (p.Ile390Asn) c.1346T>A (p.Ile449Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58563645T>C | CA392611984 | LIPC | c.1310T>C (p.Ile437Thr) c.1127T>C (p.Ile376Thr) n.1167T>C c.1247T>C (p.Ile416Thr) c.1169T>C (p.Ile390Thr) c.1346T>C (p.Ile449Thr) | |
| 15 | g.58563645T>G | CA392611985 | LIPC | c.1310T>G (p.Ile437Ser) c.1127T>G (p.Ile376Ser) n.1167T>G c.1247T>G (p.Ile416Ser) c.1169T>G (p.Ile390Ser) c.1346T>G (p.Ile449Ser) | |
| 15 | g.58563645T= | CA2180393626 | LIPC | c.1310T= (p.Ile437=) c.1127T= (p.Ile376=) n.1167T= c.1247T= (p.Ile416=) c.1169T= (p.Ile390=) c.1346T= (p.Ile449=) | |
| 15 | g.58563646C>A | CA490611679 | LIPC | c.1311C>A (p.Ile437=) c.1128C>A (p.Ile376=) n.1168C>A c.1248C>A (p.Ile416=) c.1170C>A (p.Ile390=) c.1347C>A (p.Ile449=) | |
| 15 | g.58563646C= | CA2180393629 | LIPC | c.1311C= (p.Ile437=) c.1128C= (p.Ile376=) n.1168C= c.1248C= (p.Ile416=) c.1170C= (p.Ile390=) c.1347C= (p.Ile449=) | |
| 15 | g.58563646C>G | CA392611987 | LIPC | c.1311C>G (p.Ile437Met) c.1128C>G (p.Ile376Met) n.1168C>G c.1248C>G (p.Ile416Met) c.1170C>G (p.Ile390Met) c.1347C>G (p.Ile449Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563646C>T | CA490611681 | LIPC | c.1311C>T (p.Ile437=) c.1128C>T (p.Ile376=) n.1168C>T c.1248C>T (p.Ile416=) c.1170C>T (p.Ile390=) c.1347C>T (p.Ile449=) | COSMIC |
| 15 | g.58563647C>A | CA392611988 | LIPC | c.1312C>A (p.Pro438Thr) c.1129C>A (p.Pro377Thr) n.1169C>A c.1249C>A (p.Pro417Thr) c.1171C>A (p.Pro391Thr) c.1348C>A (p.Pro450Thr) | |
| 15 | g.58563647C>G | CA392611989 | LIPC | c.1312C>G (p.Pro438Ala) c.1129C>G (p.Pro377Ala) n.1169C>G c.1249C>G (p.Pro417Ala) c.1171C>G (p.Pro391Ala) c.1348C>G (p.Pro450Ala) | |
| 15 | g.58563647C>T | CA392611990 | LIPC | c.1312C>T (p.Pro438Ser) c.1129C>T (p.Pro377Ser) n.1169C>T c.1249C>T (p.Pro417Ser) c.1171C>T (p.Pro391Ser) c.1348C>T (p.Pro450Ser) | |
| 15 | g.58563648C>A | CA392611991 | LIPC | c.1313C>A (p.Pro438Gln) c.1130C>A (p.Pro377Gln) n.1170C>A c.1250C>A (p.Pro417Gln) c.1172C>A (p.Pro391Gln) c.1349C>A (p.Pro450Gln) | gnomAD v4 |
| 15 | g.58563648C= | CA2180393633 | LIPC | c.1313C= (p.Pro438=) c.1130C= (p.Pro377=) n.1170C= c.1250C= (p.Pro417=) c.1172C= (p.Pro391=) c.1349C= (p.Pro450=) | |
| 15 | g.58563648C>G | CA392611992 | LIPC | c.1313C>G (p.Pro438Arg) c.1130C>G (p.Pro377Arg) n.1170C>G c.1250C>G (p.Pro417Arg) c.1172C>G (p.Pro391Arg) c.1349C>G (p.Pro450Arg) | |
| 15 | g.58563648C>T | CA392611993 | LIPC | c.1313C>T (p.Pro438Leu) c.1130C>T (p.Pro377Leu) n.1170C>T c.1250C>T (p.Pro417Leu) c.1172C>T (p.Pro391Leu) c.1349C>T (p.Pro450Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58563649A= | CA2180393638 | LIPC | c.1314A= (p.Pro438=) c.1131A= (p.Pro377=) n.1171A= c.1251A= (p.Pro417=) c.1173A= (p.Pro391=) c.1350A= (p.Pro450=) | |
| 15 | g.58563649A>C | CA490611688 | LIPC | c.1314A>C (p.Pro438=) c.1131A>C (p.Pro377=) n.1171A>C c.1251A>C (p.Pro417=) c.1173A>C (p.Pro391=) c.1350A>C (p.Pro450=) | |
| 15 | g.58563649A>G | CA7585191 | LIPC | c.1314A>G (p.Pro438=) c.1131A>G (p.Pro377=) n.1171A>G c.1251A>G (p.Pro417=) c.1173A>G (p.Pro391=) c.1350A>G (p.Pro450=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58563649A>T | CA7585192 | LIPC | c.1314A>T (p.Pro438=) c.1131A>T (p.Pro377=) n.1171A>T c.1251A>T (p.Pro417=) c.1173A>T (p.Pro391=) c.1350A>T (p.Pro450=) | dbSNP ExAC gnomAD v2 gnomAD v4 |