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 |
|---|---|---|---|---|---|
| 11 | g.68784827G>A | CA381632649 | CPT1A | c.1151C>T (p.Thr384Ile) c.1247C>T (p.Thr416Ile) | gnomAD v4 |
| 11 | g.68784827G>C | CA381632652 | CPT1A | c.1151C>G (p.Thr384Ser) c.1247C>G (p.Thr416Ser) | |
| 11 | g.68784827G>T | CA381632650 | CPT1A | c.1151C>A (p.Thr384Asn) c.1247C>A (p.Thr416Asn) | |
| 11 | g.68784828T>A | CA381632654 | CPT1A | c.1150A>T (p.Thr384Ser) c.1246A>T (p.Thr416Ser) | |
| 11 | g.68784828T>C | CA381632657 | CPT1A | c.1150A>G (p.Thr384Ala) c.1246A>G (p.Thr416Ala) | |
| 11 | g.68784828T>G | CA381632659 | CPT1A | c.1150A>C (p.Thr384Pro) c.1246A>C (p.Thr416Pro) | |
| 11 | g.68784829G>A | CA475196609 | CPT1A | c.1149C>T (p.Leu383=) c.1245C>T (p.Leu415=) | dbSNP |
| 11 | g.68784829G>C | CA475196612 | CPT1A | c.1149C>G (p.Leu383=) c.1245C>G (p.Leu415=) | |
| 11 | g.68784829G>T | CA475196616 | CPT1A | c.1149C>A (p.Leu383=) c.1245C>A (p.Leu415=) | |
| 11 | g.68784830A>C | CA381632661 | CPT1A | c.1148T>G (p.Leu383Arg) c.1244T>G (p.Leu415Arg) | |
| 11 | g.68784830A>G | CA381632663 | CPT1A | c.1148T>C (p.Leu383Pro) c.1244T>C (p.Leu415Pro) | |
| 11 | g.68784830A>T | CA381632665 | CPT1A | c.1148T>A (p.Leu383His) c.1244T>A (p.Leu415His) | |
| 11 | g.68784831G>A | CA223375781 | CPT1A | c.1147C>T (p.Leu383Phe) c.1243C>T (p.Leu415Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68784831G>C | CA381632668 | CPT1A | c.1147C>G (p.Leu383Val) c.1243C>G (p.Leu415Val) | |
| 11 | g.68784831G>T | CA381632670 | CPT1A | c.1147C>A (p.Leu383Ile) c.1243C>A (p.Leu415Ile) | gnomAD v4 |
| 11 | g.68784832G>A | CA475196628 | CPT1A | c.1146C>T (p.Ala382=) c.1242C>T (p.Ala414=) | dbSNP gnomAD v2 |
| 11 | g.68784832G>C | CA475196636 | CPT1A | c.1146C>G (p.Ala382=) c.1242C>G (p.Ala414=) | |
| 11 | g.68784832G>T | CA475196637 | CPT1A | c.1146C>A (p.Ala382=) c.1242C>A (p.Ala414=) | |
| 11 | g.68784833G>A | CA6152409 | CPT1A | c.1145C>T (p.Ala382Val) c.1241C>T (p.Ala414Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784833G>C | CA381632673 | CPT1A | c.1145C>G (p.Ala382Gly) c.1241C>G (p.Ala414Gly) | |
| 11 | g.68784833G>T | CA381632675 | CPT1A | c.1145C>A (p.Ala382Asp) c.1241C>A (p.Ala414Asp) | gnomAD v4 |
| 11 | g.68784834C>A | CA381632681 | CPT1A | c.1144G>T (p.Ala382Ser) c.1240G>T (p.Ala414Ser) | |
| 11 | g.68784834C>G | CA381632679 | CPT1A | c.1144G>C (p.Ala382Pro) c.1240G>C (p.Ala414Pro) | |
| 11 | g.68784834C>T | CA381632677 | CPT1A | c.1144G>A (p.Ala382Thr) c.1240G>A (p.Ala414Thr) | dbSNP gnomAD v4 |
| 11 | g.68784835T>A | CA475196657 | CPT1A | c.1143A>T (p.Ala381=) c.1239A>T (p.Ala413=) | |
| 11 | g.68784835T>C | CA475196660 | CPT1A | c.1143A>G (p.Ala381=) c.1239A>G (p.Ala413=) | gnomAD v4 |
| 11 | g.68784835T>G | CA475196662 | CPT1A | c.1143A>C (p.Ala381=) c.1239A>C (p.Ala413=) | |
| 11 | g.68784836G>A | CA381632683 | CPT1A | c.1142C>T (p.Ala381Val) c.1238C>T (p.Ala413Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784836G>C | CA381632685 | CPT1A | c.1142C>G (p.Ala381Gly) c.1238C>G (p.Ala413Gly) | |
| 11 | g.68784836G>T | CA381632687 | CPT1A | c.1142C>A (p.Ala381Glu) c.1238C>A (p.Ala413Glu) | gnomAD v4 |
| 11 | g.68784837C>A | CA381632689 | CPT1A | c.1141G>T (p.Ala381Ser) c.1237G>T (p.Ala413Ser) | |
| 11 | g.68784837C>G | CA381632690 | CPT1A | c.1141G>C (p.Ala381Pro) c.1237G>C (p.Ala413Pro) | |
| 11 | g.68784837C>T | CA381632691 | CPT1A | c.1141G>A (p.Ala381Thr) c.1237G>A (p.Ala413Thr) | |
| 11 | g.68784838C>A | CA475196684 | CPT1A | c.1140G>T (p.Leu380=) c.1236G>T (p.Leu412=) | |
| 11 | g.68784838C>G | CA475196685 | CPT1A | c.1140G>C (p.Leu380=) c.1236G>C (p.Leu412=) | |
| 11 | g.68784838C>T | CA475196689 | CPT1A | c.1140G>A (p.Leu380=) c.1236G>A (p.Leu412=) | |
| 11 | g.68784839A>C | CA381632693 | CPT1A | c.1139T>G (p.Leu380Arg) c.1235T>G (p.Leu412Arg) | |
| 11 | g.68784839A>G | CA381632697 | CPT1A | c.1139T>C (p.Leu380Pro) c.1235T>C (p.Leu412Pro) | |
| 11 | g.68784839A>T | CA381632698 | CPT1A | c.1139T>A (p.Leu380Gln) c.1235T>A (p.Leu412Gln) | |
| 11 | g.68784840G>A | CA475196691 | CPT1A | c.1138C>T (p.Leu380=) c.1234C>T (p.Leu412=) | gnomAD v4 |
| 11 | g.68784840G>C | CA381632700 | CPT1A | c.1138C>G (p.Leu380Val) c.1234C>G (p.Leu412Val) | gnomAD v4 |
| 11 | g.68784840G>T | CA381632702 | CPT1A | c.1138C>A (p.Leu380Met) c.1234C>A (p.Leu412Met) | |
| 11 | g.68784841C>A | CA381632703 | CPT1A | c.1137G>T (p.Arg379Ser) c.1233G>T (p.Arg411Ser) | |
| 11 | g.68784841C>G | CA381632704 | CPT1A | c.1137G>C (p.Arg379Ser) c.1233G>C (p.Arg411Ser) | |
| 11 | g.68784841C>T | CA475196697 | CPT1A | c.1137G>A (p.Arg379=) c.1233G>A (p.Arg411=) | |
| 11 | g.68784842C>A | CA381632709 | CPT1A | c.1136G>T (p.Arg379Met) c.1232G>T (p.Arg411Met) | |
| 11 | g.68784842C>G | CA381632711 | CPT1A | c.1136G>C (p.Arg379Thr) c.1232G>C (p.Arg411Thr) | |
| 11 | g.68784842C>T | CA381632706 | CPT1A | c.1136G>A (p.Arg379Lys) c.1232G>A (p.Arg411Lys) | |
| 11 | g.68784843T>A | CA381632712 | CPT1A | c.1135A>T (p.Arg379Trp) c.1231A>T (p.Arg411Trp) | gnomAD v4 |
| 11 | g.68784843T>C | CA223375792 | CPT1A | c.1135A>G (p.Arg379Gly) c.1231A>G (p.Arg411Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784843T>G | CA475196720 | CPT1A | c.1135A>C (p.Arg379=) c.1231A>C (p.Arg411=) | |
| 11 | g.68784844G>A | CA475196726 | CPT1A | c.1134C>T (p.Ala378=) c.1230C>T (p.Ala410=) | |
| 11 | g.68784844G>C | CA475196724 | CPT1A | c.1134C>G (p.Ala378=) c.1230C>G (p.Ala410=) | |
| 11 | g.68784844G>T | CA475196721 | CPT1A | c.1134C>A (p.Ala378=) c.1230C>A (p.Ala410=) | |
| 11 | g.68784845G>A | CA381632714 | CPT1A | c.1133C>T (p.Ala378Val) c.1229C>T (p.Ala410Val) | |
| 11 | g.68784845G>C | CA381632716 | CPT1A | c.1133C>G (p.Ala378Gly) c.1229C>G (p.Ala410Gly) | |
| 11 | g.68784845G>T | CA381632718 | CPT1A | c.1133C>A (p.Ala378Asp) c.1229C>A (p.Ala410Asp) | gnomAD v4 |
| 11 | g.68784846C>A | CA381632720 | CPT1A | c.1132G>T (p.Ala378Ser) c.1228G>T (p.Ala410Ser) | gnomAD v4 |
| 11 | g.68784846C>G | CA381632722 | CPT1A | c.1132G>C (p.Ala378Pro) c.1228G>C (p.Ala410Pro) | |
| 11 | g.68784846C>T | CA381632724 | CPT1A | c.1132G>A (p.Ala378Thr) c.1228G>A (p.Ala410Thr) | gnomAD v4 |
| 11 | g.68784847C>A | CA381632726 | CPT1A | c.1131G>T (p.Glu377Asp) c.1227G>T (p.Glu409Asp) | gnomAD v4 |
| 11 | g.68784847C>G | CA381632728 | CPT1A | c.1131G>C (p.Glu377Asp) c.1227G>C (p.Glu409Asp) | |
| 11 | g.68784847C>T | CA475196743 | CPT1A | c.1131G>A (p.Glu377=) c.1227G>A (p.Glu409=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.68784848T>A | CA381632730 | CPT1A | c.1130A>T (p.Glu377Val) c.1226A>T (p.Glu409Val) | |
| 11 | g.68784848T>C | CA381632732 | CPT1A | c.1130A>G (p.Glu377Gly) c.1226A>G (p.Glu409Gly) | |
| 11 | g.68784848T>G | CA381632733 | CPT1A | c.1130A>C (p.Glu377Ala) c.1226A>C (p.Glu409Ala) | |
| 11 | g.68784849C>A | CA381632736 | CPT1A | c.1129G>T (p.Glu377Ter) c.1225G>T (p.Glu409Ter) | gnomAD v4 COSMIC COSMIC |
| 11 | g.68784849C>G | CA381632739 | CPT1A | c.1129G>C (p.Glu377Gln) c.1225G>C (p.Glu409Gln) | |
| 11 | g.68784849C>T | CA381632738 | CPT1A | c.1129G>A (p.Glu377Lys) c.1225G>A (p.Glu409Lys) | ClinVar dbSNP |
| 11 | g.68784852del | CA2614735500 | CPT1A | c.1129del (p.Glu377ArgfsTer?) c.1225del (p.Glu409ArgfsTer?) | gnomAD v4 |
| 11 | g.68784850C>A | CA475196755 | CPT1A | c.1128G>T (p.Gly376=) c.1224G>T (p.Gly408=) | |
| 11 | g.68784850C>G | CA475196757 | CPT1A | c.1128G>C (p.Gly376=) c.1224G>C (p.Gly408=) | |
| 11 | g.68784850C>T | CA475196760 | CPT1A | c.1128G>A (p.Gly376=) c.1224G>A (p.Gly408=) | |
| 11 | g.68784851C>A | CA381632742 | CPT1A | c.1127G>T (p.Gly376Val) c.1223G>T (p.Gly408Val) | |
| 11 | g.68784851C>G | CA381632743 | CPT1A | c.1127G>C (p.Gly376Ala) c.1223G>C (p.Gly408Ala) | |
| 11 | g.68784851C>T | CA381632745 | CPT1A | c.1127G>A (p.Gly376Glu) c.1223G>A (p.Gly408Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784852C>A | CA381632748 | CPT1A | c.1126G>T (p.Gly376Trp) c.1222G>T (p.Gly408Trp) | COSMIC COSMIC |
| 11 | g.68784852C>G | CA381632749 | CPT1A | c.1126G>C (p.Gly376Arg) c.1222G>C (p.Gly408Arg) | gnomAD v4 |
| 11 | g.68784852C>T | CA6152410 | CPT1A | c.1126G>A (p.Gly376Arg) c.1222G>A (p.Gly408Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68784853G>A | CA6152411 | CPT1A | c.1125C>T (p.Pro375=) c.1221C>T (p.Pro407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784853G>C | CA475196764 | CPT1A | c.1125C>G (p.Pro375=) c.1221C>G (p.Pro407=) | dbSNP |
| 11 | g.68784853G>T | CA475196766 | CPT1A | c.1125C>A (p.Pro375=) c.1221C>A (p.Pro407=) | gnomAD v4 |
| 11 | g.68784854G>A | CA6152412 | CPT1A | c.1124C>T (p.Pro375Leu) c.1220C>T (p.Pro407Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784854G>C | CA381632752 | CPT1A | c.1124C>G (p.Pro375Arg) c.1220C>G (p.Pro407Arg) | |
| 11 | g.68784854G>T | CA381632754 | CPT1A | c.1124C>A (p.Pro375His) c.1220C>A (p.Pro407His) | gnomAD v4 |
| 11 | g.68784855G>A | CA381632758 | CPT1A | c.1123C>T (p.Pro375Ser) c.1219C>T (p.Pro407Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784855G>C | CA381632760 | CPT1A | c.1123C>G (p.Pro375Ala) c.1219C>G (p.Pro407Ala) | |
| 11 | g.68784855G>T | CA381632757 | CPT1A | c.1123C>A (p.Pro375Thr) c.1219C>A (p.Pro407Thr) | gnomAD v4 |
| 11 | g.68784856C>A | CA381632762 | CPT1A | c.1122G>T (p.Gln374His) c.1218G>T (p.Gln406His) | |
| 11 | g.68784856C>G | CA381632764 | CPT1A | c.1122G>C (p.Gln374His) c.1218G>C (p.Gln406His) | |
| 11 | g.68784856C>T | CA475196799 | CPT1A | c.1122G>A (p.Gln374=) c.1218G>A (p.Gln406=) | |
| 11 | g.68784857T>A | CA381632765 | CPT1A | c.1121A>T (p.Gln374Leu) c.1217A>T (p.Gln406Leu) | |
| 11 | g.68784857T>C | CA381632766 | CPT1A | c.1121A>G (p.Gln374Arg) c.1217A>G (p.Gln406Arg) | |
| 11 | g.68784857T>G | CA381632767 | CPT1A | c.1121A>C (p.Gln374Pro) c.1217A>C (p.Gln406Pro) | |
| 11 | g.68784858G>A | CA381632768 | CPT1A | c.1120C>T (p.Gln374Ter) c.1216C>T (p.Gln406Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68784858G>C | CA381632769 | CPT1A | c.1120C>G (p.Gln374Glu) c.1216C>G (p.Gln406Glu) | |
| 11 | g.68784858G>T | CA381632770 | CPT1A | c.1120C>A (p.Gln374Lys) c.1216C>A (p.Gln406Lys) | gnomAD v4 |
| 11 | g.68784862_68784869del | CA2580084950 | CPT1A | c.1113_1120del (p.Glu372AlafsTer?) c.1209_1216del (p.Glu404AlafsTer?) | ClinVar |
| 11 | g.68784859A>C | CA475196812 | CPT1A | c.1119T>G (p.Pro373=) c.1215T>G (p.Pro405=) | |
| 11 | g.68784859A>G | CA475196814 | CPT1A | c.1119T>C (p.Pro373=) c.1215T>C (p.Pro405=) | |
| 11 | g.68784859A>T | CA475196816 | CPT1A | c.1119T>A (p.Pro373=) c.1215T>A (p.Pro405=) | |
| 11 | g.68784860G>A | CA381632771 | CPT1A | c.1118C>T (p.Pro373Leu) c.1214C>T (p.Pro405Leu) | dbSNP |
| 11 | g.68784860G>C | CA381632772 | CPT1A | c.1118C>G (p.Pro373Arg) c.1214C>G (p.Pro405Arg) | |
| 11 | g.68784860G>T | CA381632773 | CPT1A | c.1118C>A (p.Pro373His) c.1214C>A (p.Pro405His) | |
| 11 | g.68784861G>A | CA223375799 | CPT1A | c.1117C>T (p.Pro373Ser) c.1213C>T (p.Pro405Ser) | dbSNP |
| 11 | g.68784861G>C | CA381632774 | CPT1A | c.1117C>G (p.Pro373Ala) c.1213C>G (p.Pro405Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68784861G>T | CA381632775 | CPT1A | c.1117C>A (p.Pro373Thr) c.1213C>A (p.Pro405Thr) | |
| 11 | g.68784862C>A | CA381632777 | CPT1A | c.1116G>T (p.Glu372Asp) c.1212G>T (p.Glu404Asp) | |
| 11 | g.68784862C>G | CA381632776 | CPT1A | c.1116G>C (p.Glu372Asp) c.1212G>C (p.Glu404Asp) | |
| 11 | g.68784862C>T | CA475196843 | CPT1A | c.1116G>A (p.Glu372=) c.1212G>A (p.Glu404=) | |
| 11 | g.68784863T>A | CA381632778 | CPT1A | c.1115A>T (p.Glu372Val) c.1211A>T (p.Glu404Val) | |
| 11 | g.68784863T>C | CA381632779 | CPT1A | c.1115A>G (p.Glu372Gly) c.1211A>G (p.Glu404Gly) | |
| 11 | g.68784863T>G | CA381632780 | CPT1A | c.1115A>C (p.Glu372Ala) c.1211A>C (p.Glu404Ala) | |
| 11 | g.68784864C>A | CA381632781 | CPT1A | c.1114G>T (p.Glu372Ter) c.1210G>T (p.Glu404Ter) | |
| 11 | g.68784864C>G | CA381632782 | CPT1A | c.1114G>C (p.Glu372Gln) c.1210G>C (p.Glu404Gln) | |
| 11 | g.68784864C>T | CA381632783 | CPT1A | c.1114G>A (p.Glu372Lys) c.1210G>A (p.Glu404Lys) | |
| 11 | g.68784865C>A | CA475196874 | CPT1A | c.1113G>T (p.Ser371=) c.1209G>T (p.Ser403=) | gnomAD v4 |
| 11 | g.68784865C>G | CA475196876 | CPT1A | c.1113G>C (p.Ser371=) c.1209G>C (p.Ser403=) | dbSNP gnomAD v2 |
| 11 | g.68784865C>T | CA6152413 | CPT1A | c.1113G>A (p.Ser371=) c.1209G>A (p.Ser403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68784866G>A | CA6152414 | CPT1A | c.1112C>T (p.Ser371Leu) c.1208C>T (p.Ser403Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784866G>C | CA381632785 | CPT1A | c.1112C>G (p.Ser371Trp) c.1208C>G (p.Ser403Trp) | |
| 11 | g.68784866G>T | CA381632784 | CPT1A | c.1112C>A (p.Ser371Ter) c.1208C>A (p.Ser403Ter) | |
| 11 | g.68784867A>C | CA381632786 | CPT1A | c.1111T>G (p.Ser371Ala) c.1207T>G (p.Ser403Ala) | |
| 11 | g.68784867A>G | CA381632787 | CPT1A | c.1111T>C (p.Ser371Pro) c.1207T>C (p.Ser403Pro) | |
| 11 | g.68784867A>T | CA6152415 | CPT1A | c.1111T>A (p.Ser371Thr) c.1207T>A (p.Ser403Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784868G>A | CA6152416 | CPT1A | c.1110C>T (p.Thr370=) c.1206C>T (p.Thr402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784868G>C | CA475196892 | CPT1A | c.1110C>G (p.Thr370=) c.1206C>G (p.Thr402=) | |
| 11 | g.68784868G>T | CA475196896 | CPT1A | c.1110C>A (p.Thr370=) c.1206C>A (p.Thr402=) | |
| 11 | g.68784869G>A | CA381632788 | CPT1A | c.1109C>T (p.Thr370Ile) c.1205C>T (p.Thr402Ile) | gnomAD v4 |
| 11 | g.68784869G>C | CA381632790 | CPT1A | c.1109C>G (p.Thr370Ser) c.1205C>G (p.Thr402Ser) | |
| 11 | g.68784869G>T | CA381632789 | CPT1A | c.1109C>A (p.Thr370Asn) c.1205C>A (p.Thr402Asn) | |
| 11 | g.68784870T>A | CA381632791 | CPT1A | c.1108A>T (p.Thr370Ser) c.1204A>T (p.Thr402Ser) | |
| 11 | g.68784870T>C | CA381632792 | CPT1A | c.1108A>G (p.Thr370Ala) c.1204A>G (p.Thr402Ala) | |
| 11 | g.68784870T>G | CA381632793 | CPT1A | c.1108A>C (p.Thr370Pro) c.1204A>C (p.Thr402Pro) | dbSNP |
| 11 | g.68784871A>C | CA381632794 | CPT1A | c.1107T>G (p.Asn369Lys) c.1203T>G (p.Asn401Lys) | |
| 11 | g.68784871A>G | CA475196919 | CPT1A | c.1107T>C (p.Asn369=) c.1203T>C (p.Asn401=) | |
| 11 | g.68784871A>T | CA381632795 | CPT1A | c.1107T>A (p.Asn369Lys) c.1203T>A (p.Asn401Lys) | |
| 11 | g.68784872T>A | CA381632796 | CPT1A | c.1106A>T (p.Asn369Ile) c.1202A>T (p.Asn401Ile) | |
| 11 | g.68784872T>C | CA381632797 | CPT1A | c.1106A>G (p.Asn369Ser) c.1202A>G (p.Asn401Ser) | |
| 11 | g.68784872T>G | CA381632798 | CPT1A | c.1106A>C (p.Asn369Thr) c.1202A>C (p.Asn401Thr) | |
| 11 | g.68784873T>A | CA381632800 | CPT1A | c.1105A>T (p.Asn369Tyr) c.1201A>T (p.Asn401Tyr) | |
| 11 | g.68784873T>C | CA381632802 | CPT1A | c.1105A>G (p.Asn369Asp) c.1201A>G (p.Asn401Asp) | gnomAD v4 |
| 11 | g.68784873T>G | CA381632804 | CPT1A | c.1105A>C (p.Asn369His) c.1201A>C (p.Asn401His) | |
| 11 | g.68784874G>A | CA475197553 | CPT1A | c.1104C>T (p.Asp368=) c.1200C>T (p.Asp400=) | ClinVar dbSNP |
| 11 | g.68784874G>C | CA381633150 | CPT1A | c.1104C>G (p.Asp368Glu) c.1200C>G (p.Asp400Glu) | |
| 11 | g.68784874G>T | CA381633153 | CPT1A | c.1104C>A (p.Asp368Glu) c.1200C>A (p.Asp400Glu) | |
| 11 | g.68784875T>A | CA381633159 | CPT1A | c.1103A>T (p.Asp368Val) c.1199A>T (p.Asp400Val) | gnomAD v4 |
| 11 | g.68784875T>C | CA6152417 | CPT1A | c.1103A>G (p.Asp368Gly) c.1199A>G (p.Asp400Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784875T>G | CA381633156 | CPT1A | c.1103A>C (p.Asp368Ala) c.1199A>C (p.Asp400Ala) | |
| 11 | g.68784876C>A | CA223375819 | CPT1A | c.1102G>T (p.Asp368Tyr) c.1198G>T (p.Asp400Tyr) | dbSNP gnomAD v2 |
| 11 | g.68784876C>G | CA381633161 | CPT1A | c.1102G>C (p.Asp368His) c.1198G>C (p.Asp400His) | |
| 11 | g.68784876C>T | CA6152418 | CPT1A | c.1102G>A (p.Asp368Asn) c.1198G>A (p.Asp400Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784877del | CA679629356 | CPT1A | c.1102del (p.Asp368ThrfsTer?) c.1198del (p.Asp400ThrfsTer?) | dbSNP |
| 11 | g.68784877C>A | CA475197568 | CPT1A | c.1101G>T (p.Leu367=) c.1197G>T (p.Leu399=) | |
| 11 | g.68784877C>G | CA475197570 | CPT1A | c.1101G>C (p.Leu367=) c.1197G>C (p.Leu399=) | |
| 11 | g.68784877C>T | CA6152419 | CPT1A | c.1101G>A (p.Leu367=) c.1197G>A (p.Leu399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784878A>C | CA381633164 | CPT1A | c.1100T>G (p.Leu367Arg) c.1196T>G (p.Leu399Arg) | |
| 11 | g.68784878A>G | CA381633166 | CPT1A | c.1100T>C (p.Leu367Pro) c.1196T>C (p.Leu399Pro) | |
| 11 | g.68784878A>T | CA381633168 | CPT1A | c.1100T>A (p.Leu367Gln) c.1196T>A (p.Leu399Gln) | |
| 11 | g.68784879G>A | CA475197581 | CPT1A | c.1099C>T (p.Leu367=) c.1195C>T (p.Leu399=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784879G>C | CA381633169 | CPT1A | c.1099C>G (p.Leu367Val) c.1195C>G (p.Leu399Val) | |
| 11 | g.68784879G>T | CA381633172 | CPT1A | c.1099C>A (p.Leu367Met) c.1195C>A (p.Leu399Met) | |
| 11 | g.68784880G>A | CA475197584 | CPT1A | c.1098C>T (p.Ile366=) c.1194C>T (p.Ile398=) | ClinVar |
| 11 | g.68784880G>C | CA381633173 | CPT1A | c.1098C>G (p.Ile366Met) c.1194C>G (p.Ile398Met) | |
| 11 | g.68784880G>T | CA475197585 | CPT1A | c.1098C>A (p.Ile366=) c.1194C>A (p.Ile398=) | ClinVar dbSNP |
| 11 | g.68784881A>C | CA381633175 | CPT1A | c.1097T>G (p.Ile366Ser) c.1193T>G (p.Ile398Ser) | |
| 11 | g.68784881A>G | CA381633177 | CPT1A | c.1097T>C (p.Ile366Thr) c.1193T>C (p.Ile398Thr) | |
| 11 | g.68784881A>T | CA381633179 | CPT1A | c.1097T>A (p.Ile366Asn) c.1193T>A (p.Ile398Asn) | |
| 11 | g.68784882T>A | CA381633183 | CPT1A | c.1096A>T (p.Ile366Phe) c.1192A>T (p.Ile398Phe) | |
| 11 | g.68784882T>C | CA381633185 | CPT1A | c.1096A>G (p.Ile366Val) c.1192A>G (p.Ile398Val) | |
| 11 | g.68784882T>G | CA381633181 | CPT1A | c.1096A>C (p.Ile366Leu) c.1192A>C (p.Ile398Leu) | |
| 11 | g.68784883C>A | CA381633187 | CPT1A | c.1095G>T (p.Arg365Ser) c.1191G>T (p.Arg397Ser) | |
| 11 | g.68784883C>G | CA381633189 | CPT1A | c.1095G>C (p.Arg365Ser) c.1191G>C (p.Arg397Ser) | |
| 11 | g.68784883C>T | CA475197594 | CPT1A | c.1095G>A (p.Arg365=) c.1191G>A (p.Arg397=) | |
| 11 | g.68784884C>A | CA381633191 | CPT1A | c.1094G>T (p.Arg365Met) c.1190G>T (p.Arg397Met) | |
| 11 | g.68784884C>G | CA381633193 | CPT1A | c.1094G>C (p.Arg365Thr) c.1190G>C (p.Arg397Thr) | |
| 11 | g.68784884C>T | CA223375834 | CPT1A | c.1094G>A (p.Arg365Lys) c.1190G>A (p.Arg397Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784885T>A | CA381633195 | CPT1A | c.1093A>T (p.Arg365Trp) c.1189A>T (p.Arg397Trp) | |
| 11 | g.68784885T>C | CA381633197 | CPT1A | c.1093A>G (p.Arg365Gly) c.1189A>G (p.Arg397Gly) | |
| 11 | g.68784885T>G | CA475197602 | CPT1A | c.1093A>C (p.Arg365=) c.1189A>C (p.Arg397=) | |
| 11 | g.68784885dup | CA2697548766 | CPT1A | c.1093dup (p.Arg365LysfsTer?) c.1189dup (p.Arg397LysfsTer?) | ClinVar |
| 11 | g.68784886C>A | CA381633199 | CPT1A | c.1092G>T (p.Gln364His) c.1188G>T (p.Gln396His) | |
| 11 | g.68784886C>G | CA381633200 | CPT1A | c.1092G>C (p.Gln364His) c.1188G>C (p.Gln396His) | |
| 11 | g.68784886C>T | CA6152420 | CPT1A | c.1092G>A (p.Gln364=) c.1188G>A (p.Gln396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68784887T>A | CA381633207 | CPT1A | c.1091A>T (p.Gln364Leu) c.1187A>T (p.Gln396Leu) | |
| 11 | g.68784887T>C | CA381633205 | CPT1A | c.1091A>G (p.Gln364Arg) c.1187A>G (p.Gln396Arg) | |
| 11 | g.68784887T>G | CA381633204 | CPT1A | c.1091A>C (p.Gln364Pro) c.1187A>C (p.Gln396Pro) | gnomAD v4 |
| 11 | g.68784888G>A | CA381633210 | CPT1A | c.1090C>T (p.Gln364Ter) c.1186C>T (p.Gln396Ter) | |
| 11 | g.68784888G>C | CA381633212 | CPT1A | c.1090C>G (p.Gln364Glu) c.1186C>G (p.Gln396Glu) | |
| 11 | g.68784888G>T | CA381633214 | CPT1A | c.1090C>A (p.Gln364Lys) c.1186C>A (p.Gln396Lys) | |
| 11 | g.68784889C>A | CA381633216 | CPT1A | c.1089G>T (p.Met363Ile) c.1185G>T (p.Met395Ile) | |
| 11 | g.68784889C>G | CA381633217 | CPT1A | c.1089G>C (p.Met363Ile) c.1185G>C (p.Met395Ile) | |
| 11 | g.68784889C>T | CA381633220 | CPT1A | c.1089G>A (p.Met363Ile) c.1185G>A (p.Met395Ile) | |
| 11 | g.68784890A>C | CA381633222 | CPT1A | c.1088T>G (p.Met363Arg) c.1184T>G (p.Met395Arg) | |
| 11 | g.68784890A>G | CA381633226 | CPT1A | c.1088T>C (p.Met363Thr) c.1184T>C (p.Met395Thr) | |
| 11 | g.68784890A>T | CA381633224 | CPT1A | c.1088T>A (p.Met363Lys) c.1184T>A (p.Met395Lys) | |
| 11 | g.68784891T>A | CA381633228 | CPT1A | c.1087A>T (p.Met363Leu) c.1183A>T (p.Met395Leu) | gnomAD v4 |
| 11 | g.68784891T>C | CA381633230 | CPT1A | c.1087A>G (p.Met363Val) c.1183A>G (p.Met395Val) | |
| 11 | g.68784891T>G | CA381633231 | CPT1A | c.1087A>C (p.Met363Leu) c.1183A>C (p.Met395Leu) | |
| 11 | g.68784892C>A | CA381633233 | CPT1A | c.1086G>T (p.Gln362His) c.1182G>T (p.Gln394His) | |
| 11 | g.68784892C>G | CA381633235 | CPT1A | c.1086G>C (p.Gln362His) c.1182G>C (p.Gln394His) | |
| 11 | g.68784892C>T | CA475197635 | CPT1A | c.1086G>A (p.Gln362=) c.1182G>A (p.Gln394=) | |
| 11 | g.68784893T>A | CA381633237 | CPT1A | c.1085A>T (p.Gln362Leu) c.1181A>T (p.Gln394Leu) | |
| 11 | g.68784893T>C | CA381633240 | CPT1A | c.1085A>G (p.Gln362Arg) c.1181A>G (p.Gln394Arg) | |
| 11 | g.68784893T>G | CA381633241 | CPT1A | c.1085A>C (p.Gln362Pro) c.1181A>C (p.Gln394Pro) | |
| 11 | g.68784894G>A | CA381633243 | CPT1A | c.1084C>T (p.Gln362Ter) c.1180C>T (p.Gln394Ter) | |
| 11 | g.68784894G>C | CA381633245 | CPT1A | c.1084C>G (p.Gln362Glu) c.1180C>G (p.Gln394Glu) | |
| 11 | g.68784894G>T | CA381633247 | CPT1A | c.1084C>A (p.Gln362Lys) c.1180C>A (p.Gln394Lys) | |
| 11 | g.68784895C>A | CA381633249 | CPT1A | c.1083G>T (p.Gln361His) c.1179G>T (p.Gln393His) | |
| 11 | g.68784895C>G | CA381633252 | CPT1A | c.1083G>C (p.Gln361His) c.1179G>C (p.Gln393His) | |
| 11 | g.68784895C>T | CA6152421 | CPT1A | c.1083G>A (p.Gln361=) c.1179G>A (p.Gln393=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784896T>A | CA381633254 | CPT1A | c.1082A>T (p.Gln361Leu) c.1178A>T (p.Gln393Leu) | |
| 11 | g.68784896T>C | CA381633256 | CPT1A | c.1082A>G (p.Gln361Arg) c.1178A>G (p.Gln393Arg) | |
| 11 | g.68784896T>G | CA381633259 | CPT1A | c.1082A>C (p.Gln361Pro) c.1178A>C (p.Gln393Pro) | gnomAD v4 |
| 11 | g.68784897G>A | CA381633261 | CPT1A | c.1081C>T (p.Gln361Ter) c.1177C>T (p.Gln393Ter) | |
| 11 | g.68784897G>C | CA381633263 | CPT1A | c.1081C>G (p.Gln361Glu) c.1177C>G (p.Gln393Glu) | |
| 11 | g.68784897G>T | CA381633265 | CPT1A | c.1081C>A (p.Gln361Lys) c.1177C>A (p.Gln393Lys) | |
| 11 | g.68784898C>A | CA381633268 | CPT1A | c.1080G>T (p.Glu360Asp) c.1176G>T (p.Glu392Asp) | |
| 11 | g.68784898C>G | CA381633270 | CPT1A | c.1080G>C (p.Glu360Asp) c.1176G>C (p.Glu392Asp) | gnomAD v4 |
| 11 | g.68784898C>T | CA223375836 | CPT1A | c.1080G>A (p.Glu360=) c.1176G>A (p.Glu392=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68784899T>A | CA381633273 | CPT1A | c.1079A>T (p.Glu360Val) c.1175A>T (p.Glu392Val) | |
| 11 | g.68784899T>C | CA340850 | CPT1A | c.1079A>G (p.Glu360Gly) c.1175A>G (p.Glu392Gly) | ClinVar dbSNP |
| 11 | g.68784899T>G | CA381633274 | CPT1A | c.1079A>C (p.Glu360Ala) c.1175A>C (p.Glu392Ala) | |
| 11 | g.68784899T= | CA2581028852 | CPT1A | c.1079A= (p.Glu360=) c.1175A= (p.Glu392=) | |
| 11 | g.68784900C>A | CA381633279 | CPT1A | c.1078G>T (p.Glu360Ter) c.1174G>T (p.Glu392Ter) | |
| 11 | g.68784900C>G | CA381633276 | CPT1A | c.1078G>C (p.Glu360Gln) c.1174G>C (p.Glu392Gln) | |
| 11 | g.68784900C>T | CA6152422 | CPT1A | c.1078G>A (p.Glu360Lys) c.1174G>A (p.Glu392Lys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.68784901C>A | CA381633282 | CPT1A | c.1077G>T (p.Met359Ile) c.1173G>T (p.Met391Ile) | |
| 11 | g.68784901C>G | CA381633283 | CPT1A | c.1077G>C (p.Met359Ile) c.1173G>C (p.Met391Ile) | |
| 11 | g.68784901C>T | CA381633286 | CPT1A | c.1077G>A (p.Met359Ile) c.1173G>A (p.Met391Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784902A>C | CA381633288 | CPT1A | c.1076T>G (p.Met359Arg) c.1172T>G (p.Met391Arg) | |
| 11 | g.68784902A>G | CA381633290 | CPT1A | c.1076T>C (p.Met359Thr) c.1172T>C (p.Met391Thr) | gnomAD v4 |
| 11 | g.68784902A>T | CA381633292 | CPT1A | c.1076T>A (p.Met359Lys) c.1172T>A (p.Met391Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784903T>A | CA381633294 | CPT1A | c.1075A>T (p.Met359Leu) c.1171A>T (p.Met391Leu) | |
| 11 | g.68784903T>C | CA381633295 | CPT1A | c.1075A>G (p.Met359Val) c.1171A>G (p.Met391Val) | gnomAD v4 |
| 11 | g.68784903T>G | CA381633297 | CPT1A | c.1075A>C (p.Met359Leu) c.1171A>C (p.Met391Leu) | gnomAD v4 |
| 11 | g.68784904C>A | CA381633298 | CPT1A | c.1074G>T (p.Glu358Asp) c.1170G>T (p.Glu390Asp) | dbSNP |
| 11 | g.68784904C>G | CA381633300 | CPT1A | c.1074G>C (p.Glu358Asp) c.1170G>C (p.Glu390Asp) | |
| 11 | g.68784904C>T | CA475197686 | CPT1A | c.1074G>A (p.Glu358=) c.1170G>A (p.Glu390=) | |
| 11 | g.68784905T>A | CA381633304 | CPT1A | c.1073A>T (p.Glu358Val) c.1169A>T (p.Glu390Val) | |
| 11 | g.68784905T>C | CA381633306 | CPT1A | c.1073A>G (p.Glu358Gly) c.1169A>G (p.Glu390Gly) | |
| 11 | g.68784905T>G | CA381633303 | CPT1A | c.1073A>C (p.Glu358Ala) c.1169A>C (p.Glu390Ala) | |
| 11 | g.68784906C>A | CA381633311 | CPT1A | c.1072G>T (p.Glu358Ter) c.1168G>T (p.Glu390Ter) | gnomAD v4 |
| 11 | g.68784906C>G | CA381633308 | CPT1A | c.1072G>C (p.Glu358Gln) c.1168G>C (p.Glu390Gln) | |
| 11 | g.68784906C>T | CA381633309 | CPT1A | c.1072G>A (p.Glu358Lys) c.1168G>A (p.Glu390Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784907C>A | CA475197692 | CPT1A | c.1071G>T (p.Arg357=) c.1167G>T (p.Arg389=) | |
| 11 | g.68784907C>G | CA475197695 | CPT1A | c.1071G>C (p.Arg357=) c.1167G>C (p.Arg389=) | |
| 11 | g.68784907C>T | CA475197697 | CPT1A | c.1071G>A (p.Arg357=) c.1167G>A (p.Arg389=) | |
| 11 | g.68784908C>A | CA381633314 | CPT1A | c.1070G>T (p.Arg357Leu) c.1166G>T (p.Arg389Leu) | dbSNP |
| 11 | g.68784908C>G | CA381633315 | CPT1A | c.1070G>C (p.Arg357Pro) c.1166G>C (p.Arg389Pro) | |
| 11 | g.68784908C>T | CA6152423 | CPT1A | c.1070G>A (p.Arg357Gln) c.1166G>A (p.Arg389Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784909G>A | CA344960 | CPT1A | c.1069C>T (p.Arg357Trp) c.1165C>T (p.Arg389Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784909G>C | CA381633319 | CPT1A | c.1069C>G (p.Arg357Gly) c.1165C>G (p.Arg389Gly) | |
| 11 | g.68784909G= | CA2581028853 | CPT1A | c.1069C= (p.Arg357=) c.1165C= (p.Arg389=) | |
| 11 | g.68784909G>T | CA475197707 | CPT1A | c.1069C>A (p.Arg357=) c.1165C>A (p.Arg389=) | dbSNP gnomAD v4 |
| 11 | g.68784910G>A | CA475197713 | CPT1A | c.1068C>T (p.Pro356=) c.1164C>T (p.Pro388=) | |
| 11 | g.68784910G>C | CA475197715 | CPT1A | c.1068C>G (p.Pro356=) c.1164C>G (p.Pro388=) | |
| 11 | g.68784910G>T | CA475197717 | CPT1A | c.1068C>A (p.Pro356=) c.1164C>A (p.Pro388=) | |
| 11 | g.68784911G>A | CA381633322 | CPT1A | c.1067C>T (p.Pro356Leu) c.1163C>T (p.Pro388Leu) | |
| 11 | g.68784911G>C | CA381633324 | CPT1A | c.1067C>G (p.Pro356Arg) c.1163C>G (p.Pro388Arg) | |
| 11 | g.68784911G>T | CA381633326 | CPT1A | c.1067C>A (p.Pro356His) c.1163C>A (p.Pro388His) | |
| 11 | g.68784912G>A | CA381633328 | CPT1A | c.1066C>T (p.Pro356Ser) c.1162C>T (p.Pro388Ser) | |
| 11 | g.68784912G>C | CA381633330 | CPT1A | c.1066C>G (p.Pro356Ala) c.1162C>G (p.Pro388Ala) | |
| 11 | g.68784912G>T | CA381633332 | CPT1A | c.1066C>A (p.Pro356Thr) c.1162C>A (p.Pro388Thr) | |
| 11 | g.68784913C>A | CA223375844 | CPT1A | c.1065G>T (p.Lys355Asn) c.1161G>T (p.Lys387Asn) | dbSNP |
| 11 | g.68784913C>G | CA381633334 | CPT1A | c.1065G>C (p.Lys355Asn) c.1161G>C (p.Lys387Asn) | |
| 11 | g.68784913C>T | CA475197736 | CPT1A | c.1065G>A (p.Lys355=) c.1161G>A (p.Lys387=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68784914T>A | CA381633336 | CPT1A | c.1064A>T (p.Lys355Met) c.1160A>T (p.Lys387Met) | |
| 11 | g.68784914T>C | CA381633338 | CPT1A | c.1064A>G (p.Lys355Arg) c.1160A>G (p.Lys387Arg) | |
| 11 | g.68784914T>G | CA381633339 | CPT1A | c.1064A>C (p.Lys355Thr) c.1160A>C (p.Lys387Thr) | |
| 11 | g.68784915T>A | CA381633342 | CPT1A | c.1063A>T (p.Lys355Ter) c.1159A>T (p.Lys387Ter) | gnomAD v4 |
| 11 | g.68784915T>C | CA381633344 | CPT1A | c.1063A>G (p.Lys355Glu) c.1159A>G (p.Lys387Glu) | gnomAD v4 |
| 11 | g.68784915T>G | CA381633346 | CPT1A | c.1063A>C (p.Lys355Gln) c.1159A>C (p.Lys387Gln) | |
| 11 | g.68784916C>A | CA475197755 | CPT1A | c.1062G>T (p.Leu354=) c.1158G>T (p.Leu386=) | |
| 11 | g.68784916C>G | CA475197753 | CPT1A | c.1062G>C (p.Leu354=) c.1158G>C (p.Leu386=) | |
| 11 | g.68784916C>T | CA6152424 | CPT1A | c.1062G>A (p.Leu354=) c.1158G>A (p.Leu386=) | dbSNP ExAC gnomAD v2 |
| 11 | g.68784917A>C | CA381633348 | CPT1A | c.1061T>G (p.Leu354Arg) c.1157T>G (p.Leu386Arg) | |
| 11 | g.68784917A>G | CA381633350 | CPT1A | c.1061T>C (p.Leu354Pro) c.1157T>C (p.Leu386Pro) | |
| 11 | g.68784917A>T | CA381633352 | CPT1A | c.1061T>A (p.Leu354Gln) c.1157T>A (p.Leu386Gln) | |
| 11 | g.68784918G>A | CA475197763 | CPT1A | c.1060C>T (p.Leu354=) c.1156C>T (p.Leu386=) | dbSNP |
| 11 | g.68784918G>C | CA381633354 | CPT1A | c.1060C>G (p.Leu354Val) c.1156C>G (p.Leu386Val) | |
| 11 | g.68784918G>T | CA381633355 | CPT1A | c.1060C>A (p.Leu354Met) c.1156C>A (p.Leu386Met) | |
| 11 | g.68784919C>A | CA475197773 | CPT1A | c.1059G>T (p.Leu353=) c.1155G>T (p.Leu385=) | |
| 11 | g.68784919C>G | CA475197771 | CPT1A | c.1059G>C (p.Leu353=) c.1155G>C (p.Leu385=) | |
| 11 | g.68784919C>T | CA475197769 | CPT1A | c.1059G>A (p.Leu353=) c.1155G>A (p.Leu385=) | |
| 11 | g.68784920A>C | CA381633360 | CPT1A | c.1058T>G (p.Leu353Arg) c.1154T>G (p.Leu385Arg) | |
| 11 | g.68784920A>G | CA6152425 | CPT1A | c.1058T>C (p.Leu353Pro) c.1154T>C (p.Leu385Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784920A>T | CA381633358 | CPT1A | c.1058T>A (p.Leu353Gln) c.1154T>A (p.Leu385Gln) | |
| 11 | g.68784921G>A | CA475197782 | CPT1A | c.1057C>T (p.Leu353=) c.1153C>T (p.Leu385=) | ClinVar |
| 11 | g.68784921G>C | CA381633361 | CPT1A | c.1057C>G (p.Leu353Val) c.1153C>G (p.Leu385Val) | |
| 11 | g.68784921G>T | CA381633362 | CPT1A | c.1057C>A (p.Leu353Met) c.1153C>A (p.Leu385Met) | |
| 11 | g.68784922C>A | CA475197787 | CPT1A | c.1056G>T (p.Arg352=) c.1152G>T (p.Arg384=) | |
| 11 | g.68784922C>G | CA475197794 | CPT1A | c.1056G>C (p.Arg352=) c.1152G>C (p.Arg384=) | |
| 11 | g.68784922C>T | CA475197790 | CPT1A | c.1056G>A (p.Arg352=) c.1152G>A (p.Arg384=) | ClinVar dbSNP |
| 11 | g.68784923C>A | CA381633364 | CPT1A | c.1055G>T (p.Arg352Leu) c.1151G>T (p.Arg384Leu) | gnomAD v4 |
| 11 | g.68784923C>G | CA381633367 | CPT1A | c.1055G>C (p.Arg352Pro) c.1151G>C (p.Arg384Pro) | |
| 11 | g.68784923C>T | CA6152426 | CPT1A | c.1055G>A (p.Arg352Gln) c.1151G>A (p.Arg384Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784924G>A | CA6152427 | CPT1A | c.1054C>T (p.Arg352Trp) c.1150C>T (p.Arg384Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784924G>C | CA381633370 | CPT1A | c.1054C>G (p.Arg352Gly) c.1150C>G (p.Arg384Gly) | |
| 11 | g.68784924G>T | CA475197816 | CPT1A | c.1054C>A (p.Arg352=) c.1150C>A (p.Arg384=) | |
| 11 | g.68784925C>A | CA475197820 | CPT1A | c.1053G>T (p.Gly351=) c.1149G>T (p.Gly383=) | |
| 11 | g.68784925C>G | CA475197822 | CPT1A | c.1053G>C (p.Gly351=) c.1149G>C (p.Gly383=) | |
| 11 | g.68784925C>T | CA475197823 | CPT1A | c.1053G>A (p.Gly351=) c.1149G>A (p.Gly383=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.68784926C>A | CA381633372 | CPT1A | c.1052G>T (p.Gly351Val) c.1148G>T (p.Gly383Val) | |
| 11 | g.68784926C>G | CA381633373 | CPT1A | c.1052G>C (p.Gly351Ala) c.1148G>C (p.Gly383Ala) | |
| 11 | g.68784926C>T | CA381633374 | CPT1A | c.1052G>A (p.Gly351Glu) c.1148G>A (p.Gly383Glu) | |
| 11 | g.68784927C>A | CA381633375 | CPT1A | c.1051G>T (p.Gly351Trp) c.1147G>T (p.Gly383Trp) | |
| 11 | g.68784927C>G | CA381633376 | CPT1A | c.1051G>C (p.Gly351Arg) c.1147G>C (p.Gly383Arg) | |
| 11 | g.68784927C>T | CA381633377 | CPT1A | c.1051G>A (p.Gly351Arg) c.1147G>A (p.Gly383Arg) |