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.116790130A>C | CA382733809 | APOA5 | c.1099T>G (p.Ter367Gly) c.1183T>G (p.Ter395Gly) | gnomAD v4 |
| 11 | g.116790130A>G | CA382733805 | APOA5 | c.1099T>C (p.Ter367Arg) c.1183T>C (p.Ter395Arg) | |
| 11 | g.116790130A>T | CA382733802 | APOA5 | c.1099T>A (p.Ter367Arg) c.1183T>A (p.Ter395Arg) | |
| 11 | g.116790131G>A | CA477046918 | APOA5 | c.1098C>T (p.Pro366=) c.1182C>T (p.Pro394=) | |
| 11 | g.116790131G>C | CA477046921 | APOA5 | c.1098C>G (p.Pro366=) c.1182C>G (p.Pro394=) | |
| 11 | g.116790131G>T | CA477046923 | APOA5 | c.1098C>A (p.Pro366=) c.1182C>A (p.Pro394=) | |
| 11 | g.116790132G>A | CA382733812 | APOA5 | c.1097C>T (p.Pro366Leu) c.1181C>T (p.Pro394Leu) | gnomAD v4 |
| 11 | g.116790132G>C | CA382733815 | APOA5 | c.1097C>G (p.Pro366Arg) c.1181C>G (p.Pro394Arg) | gnomAD v4 COSMIC |
| 11 | g.116790132G>T | CA382733816 | APOA5 | c.1097C>A (p.Pro366His) c.1181C>A (p.Pro394His) | |
| 11 | g.116790133G>A | CA382733820 | APOA5 | c.1096C>T (p.Pro366Ser) c.1180C>T (p.Pro394Ser) | |
| 11 | g.116790133G>C | CA382733822 | APOA5 | c.1096C>G (p.Pro366Ala) c.1180C>G (p.Pro394Ala) | |
| 11 | g.116790133G= | CA2002739824 | APOA5 | c.1096C= (p.Pro366=) c.1180C= (p.Pro394=) | |
| 11 | g.116790133G>T | CA382733825 | APOA5 | c.1096C>A (p.Pro366Thr) c.1180C>A (p.Pro394Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790134G>A | CA6288937 | APOA5 | c.1095C>T (p.Asp365=) c.1179C>T (p.Asp393=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790134G>C | CA382733834 | APOA5 | c.1095C>G (p.Asp365Glu) c.1179C>G (p.Asp393Glu) | |
| 11 | g.116790134G= | CA2002739825 | APOA5 | c.1095C= (p.Asp365=) c.1179C= (p.Asp393=) | |
| 11 | g.116790134G>T | CA229337080 | APOA5 | c.1095C>A (p.Asp365Glu) c.1179C>A (p.Asp393Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790135T>A | CA382733837 | APOA5 | c.1094A>T (p.Asp365Val) c.1178A>T (p.Asp393Val) | |
| 11 | g.116790135T>C | CA382733842 | APOA5 | c.1094A>G (p.Asp365Gly) c.1178A>G (p.Asp393Gly) | gnomAD v4 |
| 11 | g.116790135T>G | CA382733845 | APOA5 | c.1094A>C (p.Asp365Ala) c.1178A>C (p.Asp393Ala) | |
| 11 | g.116790136C>A | CA382733850 | APOA5 | c.1093G>T (p.Asp365Tyr) c.1177G>T (p.Asp393Tyr) | |
| 11 | g.116790136C>G | CA382733852 | APOA5 | c.1093G>C (p.Asp365His) c.1177G>C (p.Asp393His) | |
| 11 | g.116790136C>T | CA382733855 | APOA5 | c.1093G>A (p.Asp365Asn) c.1177G>A (p.Asp393Asn) | gnomAD v4 |
| 11 | g.116790137C>A | CA477046939 | APOA5 | c.1092G>T (p.Gly364=) c.1176G>T (p.Gly392=) | |
| 11 | g.116790137C= | CA2002739826 | APOA5 | c.1092G= (p.Gly364=) c.1176G= (p.Gly392=) | |
| 11 | g.116790137C>G | CA477046938 | APOA5 | c.1092G>C (p.Gly364=) c.1176G>C (p.Gly392=) | |
| 11 | g.116790137C>T | CA229337085 | APOA5 | c.1092G>A (p.Gly364=) c.1176G>A (p.Gly392=) | dbSNP gnomAD v4 |
| 11 | g.116790138C>A | CA382733860 | APOA5 | c.1091G>T (p.Gly364Val) c.1175G>T (p.Gly392Val) | |
| 11 | g.116790138C>G | CA382733863 | APOA5 | c.1091G>C (p.Gly364Ala) c.1175G>C (p.Gly392Ala) | |
| 11 | g.116790138C>T | CA382733867 | APOA5 | c.1091G>A (p.Gly364Glu) c.1175G>A (p.Gly392Glu) | COSMIC |
| 11 | g.116790139C>A | CA382733868 | APOA5 | c.1090G>T (p.Gly364Trp) c.1174G>T (p.Gly392Trp) | |
| 11 | g.116790139C>G | CA382733869 | APOA5 | c.1090G>C (p.Gly364Arg) c.1174G>C (p.Gly392Arg) | |
| 11 | g.116790139C>T | CA382733870 | APOA5 | c.1090G>A (p.Gly364Arg) c.1174G>A (p.Gly392Arg) | |
| 11 | g.116790140C>A | CA477046941 | APOA5 | c.1089G>T (p.Leu363=) c.1173G>T (p.Leu391=) | |
| 11 | g.116790140C>G | CA477046942 | APOA5 | c.1089G>C (p.Leu363=) c.1173G>C (p.Leu391=) | |
| 11 | g.116790140C>T | CA477046943 | APOA5 | c.1089G>A (p.Leu363=) c.1173G>A (p.Leu391=) | |
| 11 | g.116790141A= | CA2002739827 | APOA5 | c.1088T= (p.Leu363=) c.1172T= (p.Leu391=) | |
| 11 | g.116790141A>C | CA6288938 | APOA5 | c.1088T>G (p.Leu363Arg) c.1172T>G (p.Leu391Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790141A>G | CA382733875 | APOA5 | c.1088T>C (p.Leu363Pro) c.1172T>C (p.Leu391Pro) | |
| 11 | g.116790141A>T | CA229337091 | APOA5 | c.1088T>A (p.Leu363Gln) c.1172T>A (p.Leu391Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790142G>A | CA477046950 | APOA5 | c.1087C>T (p.Leu363=) c.1171C>T (p.Leu391=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790142G>C | CA382733878 | APOA5 | c.1087C>G (p.Leu363Val) c.1171C>G (p.Leu391Val) | dbSNP |
| 11 | g.116790142G= | CA2002739828 | APOA5 | c.1087C= (p.Leu363=) c.1171C= (p.Leu391=) | |
| 11 | g.116790142G>T | CA382733883 | APOA5 | c.1087C>A (p.Leu363Met) c.1171C>A (p.Leu391Met) | dbSNP |
| 11 | g.116790143A= | CA2002739829 | APOA5 | c.1086T= (p.His362=) c.1170T= (p.His390=) | |
| 11 | g.116790143A>C | CA382733888 | APOA5 | c.1086T>G (p.His362Gln) c.1170T>G (p.His390Gln) | gnomAD v4 |
| 11 | g.116790143A>G | CA477046951 | APOA5 | c.1086T>C (p.His362=) c.1170T>C (p.His390=) | |
| 11 | g.116790143A>T | CA382733892 | APOA5 | c.1086T>A (p.His362Gln) c.1170T>A (p.His390Gln) | dbSNP |
| 11 | g.116790144T>A | CA382733897 | APOA5 | c.1085A>T (p.His362Leu) c.1169A>T (p.His390Leu) | |
| 11 | g.116790144T>C | CA382733902 | APOA5 | c.1085A>G (p.His362Arg) c.1169A>G (p.His390Arg) | |
| 11 | g.116790144T>G | CA382733905 | APOA5 | c.1085A>C (p.His362Pro) c.1169A>C (p.His390Pro) | |
| 11 | g.116790145G>A | CA382733908 | APOA5 | c.1084C>T (p.His362Tyr) c.1168C>T (p.His390Tyr) | |
| 11 | g.116790145G>C | CA382733911 | APOA5 | c.1084C>G (p.His362Asp) c.1168C>G (p.His390Asp) | |
| 11 | g.116790145G>T | CA382733914 | APOA5 | c.1084C>A (p.His362Asn) c.1168C>A (p.His390Asn) | |
| 11 | g.116790146G>A | CA477046960 | APOA5 | c.1083C>T (p.Ser361=) c.1167C>T (p.Ser389=) | |
| 11 | g.116790146G>C | CA382733917 | APOA5 | c.1083C>G (p.Ser361Arg) c.1167C>G (p.Ser389Arg) | |
| 11 | g.116790146G>T | CA382733920 | APOA5 | c.1083C>A (p.Ser361Arg) c.1167C>A (p.Ser389Arg) | |
| 11 | g.116790147C>A | CA382733930 | APOA5 | c.1082G>T (p.Ser361Ile) c.1166G>T (p.Ser389Ile) | |
| 11 | g.116790147C>G | CA382733924 | APOA5 | c.1082G>C (p.Ser361Thr) c.1166G>C (p.Ser389Thr) | |
| 11 | g.116790147C>T | CA382733927 | APOA5 | c.1082G>A (p.Ser361Asn) c.1166G>A (p.Ser389Asn) | COSMIC |
| 11 | g.116790148T>A | CA382733932 | APOA5 | c.1081A>T (p.Ser361Cys) c.1165A>T (p.Ser389Cys) | |
| 11 | g.116790148T>C | CA382733935 | APOA5 | c.1081A>G (p.Ser361Gly) c.1165A>G (p.Ser389Gly) | |
| 11 | g.116790148T>G | CA382733939 | APOA5 | c.1081A>C (p.Ser361Arg) c.1165A>C (p.Ser389Arg) | ClinVar |
| 11 | g.116790148dup | CA2616085748 | APOA5 | c.1081dup (p.Ser361LysfsTer26) c.1165dup (p.Ser389LysfsTer?) | gnomAD v4 |
| 11 | g.116790149G>A | CA477046963 | APOA5 | c.1080C>T (p.His360=) c.1164C>T (p.His388=) | |
| 11 | g.116790149G>C | CA382733941 | APOA5 | c.1080C>G (p.His360Gln) c.1164C>G (p.His388Gln) | |
| 11 | g.116790149G>T | CA382733948 | APOA5 | c.1080C>A (p.His360Gln) c.1164C>A (p.His388Gln) | |
| 11 | g.116790150T>A | CA382733952 | APOA5 | c.1079A>T (p.His360Leu) c.1163A>T (p.His388Leu) | |
| 11 | g.116790150T>C | CA382733954 | APOA5 | c.1079A>G (p.His360Arg) c.1163A>G (p.His388Arg) | |
| 11 | g.116790150T>G | CA382733957 | APOA5 | c.1079A>C (p.His360Pro) c.1163A>C (p.His388Pro) | |
| 11 | g.116790151G>A | CA382733960 | APOA5 | c.1078C>T (p.His360Tyr) c.1162C>T (p.His388Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790151G>C | CA382733962 | APOA5 | c.1078C>G (p.His360Asp) c.1162C>G (p.His388Asp) | |
| 11 | g.116790151G= | CA2002739830 | APOA5 | c.1078C= (p.His360=) c.1162C= (p.His388=) | |
| 11 | g.116790151G>T | CA382733965 | APOA5 | c.1078C>A (p.His360Asn) c.1162C>A (p.His388Asn) | |
| 11 | g.116790152G>A | CA477046970 | APOA5 | c.1077C>T (p.Gly359=) c.1161C>T (p.Gly387=) | |
| 11 | g.116790152G>C | CA477046971 | APOA5 | c.1077C>G (p.Gly359=) c.1161C>G (p.Gly387=) | |
| 11 | g.116790152G>T | CA477046972 | APOA5 | c.1077C>A (p.Gly359=) c.1161C>A (p.Gly387=) | |
| 11 | g.116790153C>A | CA382733975 | APOA5 | c.1076G>T (p.Gly359Val) c.1160G>T (p.Gly387Val) | |
| 11 | g.116790153C>G | CA382733972 | APOA5 | c.1076G>C (p.Gly359Ala) c.1160G>C (p.Gly387Ala) | |
| 11 | g.116790153C>T | CA382733970 | APOA5 | c.1076G>A (p.Gly359Asp) c.1160G>A (p.Gly387Asp) | gnomAD v4 |
| 11 | g.116790154C>A | CA382733979 | APOA5 | c.1075G>T (p.Gly359Cys) c.1159G>T (p.Gly387Cys) | |
| 11 | g.116790154C= | CA2002739831 | APOA5 | c.1075G= (p.Gly359=) c.1159G= (p.Gly387=) | |
| 11 | g.116790154C>G | CA382733981 | APOA5 | c.1075G>C (p.Gly359Arg) c.1159G>C (p.Gly387Arg) | |
| 11 | g.116790154C>T | CA6288939 | APOA5 | c.1075G>A (p.Gly359Ser) c.1159G>A (p.Gly387Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790155C>A | CA382733991 | APOA5 | c.1074G>T (p.Gln358His) c.1158G>T (p.Gln386His) | |
| 11 | g.116790155C>G | CA382733994 | APOA5 | c.1074G>C (p.Gln358His) c.1158G>C (p.Gln386His) | |
| 11 | g.116790155C>T | CA477046977 | APOA5 | c.1074G>A (p.Gln358=) c.1158G>A (p.Gln386=) | COSMIC |
| 11 | g.116790156T>A | CA382733997 | APOA5 | c.1073A>T (p.Gln358Leu) c.1157A>T (p.Gln386Leu) | |
| 11 | g.116790156T>C | CA382733998 | APOA5 | c.1073A>G (p.Gln358Arg) c.1157A>G (p.Gln386Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790156T>G | CA382734002 | APOA5 | c.1073A>C (p.Gln358Pro) c.1157A>C (p.Gln386Pro) | |
| 11 | g.116790156T= | CA2002739832 | APOA5 | c.1073A= (p.Gln358=) c.1157A= (p.Gln386=) | |
| 11 | g.116790157G>A | CA382734006 | APOA5 | c.1072C>T (p.Gln358Ter) c.1156C>T (p.Gln386Ter) | |
| 11 | g.116790157G>C | CA382734007 | APOA5 | c.1072C>G (p.Gln358Glu) c.1156C>G (p.Gln386Glu) | |
| 11 | g.116790157G>T | CA382734009 | APOA5 | c.1072C>A (p.Gln358Lys) c.1156C>A (p.Gln386Lys) | |
| 11 | g.116790158G>A | CA477046980 | APOA5 | c.1071C>T (p.Asp357=) c.1155C>T (p.Asp385=) | gnomAD v4 |
| 11 | g.116790158G>C | CA382734011 | APOA5 | c.1071C>G (p.Asp357Glu) c.1155C>G (p.Asp385Glu) | |
| 11 | g.116790158G>T | CA382734012 | APOA5 | c.1071C>A (p.Asp357Glu) c.1155C>A (p.Asp385Glu) | |
| 11 | g.116790159T>A | CA382734018 | APOA5 | c.1070A>T (p.Asp357Val) c.1154A>T (p.Asp385Val) | |
| 11 | g.116790159T>C | CA382734016 | APOA5 | c.1070A>G (p.Asp357Gly) c.1154A>G (p.Asp385Gly) | |
| 11 | g.116790159T>G | CA382734014 | APOA5 | c.1070A>C (p.Asp357Ala) c.1154A>C (p.Asp385Ala) | |
| 11 | g.116790160C>A | CA382734020 | APOA5 | c.1069G>T (p.Asp357Tyr) c.1153G>T (p.Asp385Tyr) | |
| 11 | g.116790160C>G | CA382734022 | APOA5 | c.1069G>C (p.Asp357His) c.1153G>C (p.Asp385His) | |
| 11 | g.116790160C>T | CA382734024 | APOA5 | c.1069G>A (p.Asp357Asn) c.1153G>A (p.Asp385Asn) | |
| 11 | g.116790161A= | CA2002739833 | APOA5 | c.1068T= (p.His356=) c.1152T= (p.His384=) | |
| 11 | g.116790161A>C | CA382734026 | APOA5 | c.1068T>G (p.His356Gln) c.1152T>G (p.His384Gln) | |
| 11 | g.116790161A>G | CA477046985 | APOA5 | c.1068T>C (p.His356=) c.1152T>C (p.His384=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790161A>T | CA382734028 | APOA5 | c.1068T>A (p.His356Gln) c.1152T>A (p.His384Gln) | |
| 11 | g.116790162T>A | CA382734030 | APOA5 | c.1067A>T (p.His356Leu) c.1151A>T (p.His384Leu) | |
| 11 | g.116790162T>C | CA382734032 | APOA5 | c.1067A>G (p.His356Arg) c.1151A>G (p.His384Arg) | |
| 11 | g.116790162T>G | CA382734034 | APOA5 | c.1067A>C (p.His356Pro) c.1151A>C (p.His384Pro) | |
| 11 | g.116790163G>A | CA382734037 | APOA5 | c.1066C>T (p.His356Tyr) c.1150C>T (p.His384Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116790163G>C | CA382734039 | APOA5 | c.1066C>G (p.His356Asp) c.1150C>G (p.His384Asp) | |
| 11 | g.116790163G= | CA2002739834 | APOA5 | c.1066C= (p.His356=) c.1150C= (p.His384=) | |
| 11 | g.116790163G>T | CA382734041 | APOA5 | c.1066C>A (p.His356Asn) c.1150C>A (p.His384Asn) | gnomAD v4 |
| 11 | g.116790164A>C | CA477046993 | APOA5 | c.1065T>G (p.Leu355=) c.1149T>G (p.Leu383=) | |
| 11 | g.116790164A>G | CA477046992 | APOA5 | c.1065T>C (p.Leu355=) c.1149T>C (p.Leu383=) | |
| 11 | g.116790164A>T | CA477046994 | APOA5 | c.1065T>A (p.Leu355=) c.1149T>A (p.Leu383=) | |
| 11 | g.116790165A>C | CA382734044 | APOA5 | c.1064T>G (p.Leu355Arg) c.1148T>G (p.Leu383Arg) | |
| 11 | g.116790165A>G | CA382734046 | APOA5 | c.1064T>C (p.Leu355Pro) c.1148T>C (p.Leu383Pro) | |
| 11 | g.116790165A>T | CA382734048 | APOA5 | c.1064T>A (p.Leu355His) c.1148T>A (p.Leu383His) | |
| 11 | g.116790166G>A | CA229337096 | APOA5 | c.1063C>T (p.Leu355Phe) c.1147C>T (p.Leu383Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790166G>C | CA382734054 | APOA5 | c.1063C>G (p.Leu355Val) c.1147C>G (p.Leu383Val) | |
| 11 | g.116790166G= | CA2002739835 | APOA5 | c.1063C= (p.Leu355=) c.1147C= (p.Leu383=) | |
| 11 | g.116790166G>T | CA382734051 | APOA5 | c.1063C>A (p.Leu355Ile) c.1147C>A (p.Leu383Ile) | COSMIC |
| 11 | g.116790167G>A | CA477047001 | APOA5 | c.1062C>T (p.Ser354=) c.1146C>T (p.Ser382=) | |
| 11 | g.116790167G>C | CA382734056 | APOA5 | c.1062C>G (p.Ser354Arg) c.1146C>G (p.Ser382Arg) | gnomAD v4 |
| 11 | g.116790167G>T | CA382734058 | APOA5 | c.1062C>A (p.Ser354Arg) c.1146C>A (p.Ser382Arg) | |
| 11 | g.116790168C>A | CA382734061 | APOA5 | c.1061G>T (p.Ser354Ile) c.1145G>T (p.Ser382Ile) | |
| 11 | g.116790168C= | CA2002739837 | APOA5 | c.1061G= (p.Ser354=) c.1145G= (p.Ser382=) | |
| 11 | g.116790168C>G | CA382734063 | APOA5 | c.1061G>C (p.Ser354Thr) c.1145G>C (p.Ser382Thr) | |
| 11 | g.116790168C>T | CA382734065 | APOA5 | c.1061G>A (p.Ser354Asn) c.1145G>A (p.Ser382Asn) | dbSNP |
| 11 | g.116790169T>A | CA382734068 | APOA5 | c.1060A>T (p.Ser354Cys) c.1144A>T (p.Ser382Cys) | |
| 11 | g.116790169T>C | CA382734070 | APOA5 | c.1060A>G (p.Ser354Gly) c.1144A>G (p.Ser382Gly) | gnomAD v4 |
| 11 | g.116790169T>G | CA382734072 | APOA5 | c.1060A>C (p.Ser354Arg) c.1144A>C (p.Ser382Arg) | gnomAD v4 |
| 11 | g.116790170G>A | CA477047009 | APOA5 | c.1059C>T (p.His353=) c.1143C>T (p.His381=) | |
| 11 | g.116790170G>C | CA382734074 | APOA5 | c.1059C>G (p.His353Gln) c.1143C>G (p.His381Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790170G= | CA2002739840 | APOA5 | c.1059C= (p.His353=) c.1143C= (p.His381=) | |
| 11 | g.116790170G>T | CA382734076 | APOA5 | c.1059C>A (p.His353Gln) c.1143C>A (p.His381Gln) | |
| 11 | g.116790171T>A | CA382734078 | APOA5 | c.1058A>T (p.His353Leu) c.1142A>T (p.His381Leu) | |
| 11 | g.116790171T>C | CA382734080 | APOA5 | c.1058A>G (p.His353Arg) c.1142A>G (p.His381Arg) | |
| 11 | g.116790171T>G | CA382734083 | APOA5 | c.1058A>C (p.His353Pro) c.1142A>C (p.His381Pro) | |
| 11 | g.116790172G>A | CA382734086 | APOA5 | c.1057C>T (p.His353Tyr) c.1141C>T (p.His381Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790172G>C | CA382734089 | APOA5 | c.1057C>G (p.His353Asp) c.1141C>G (p.His381Asp) | COSMIC |
| 11 | g.116790172G= | CA2002739841 | APOA5 | c.1057C= (p.His353=) c.1141C= (p.His381=) | |
| 11 | g.116790172G>T | CA382734087 | APOA5 | c.1057C>A (p.His353Asn) c.1141C>A (p.His381Asn) | dbSNP |
| 11 | g.116790173A>C | CA477047014 | APOA5 | c.1056T>G (p.Thr352=) c.1140T>G (p.Thr380=) | |
| 11 | g.116790173A>G | CA477047016 | APOA5 | c.1056T>C (p.Thr352=) c.1140T>C (p.Thr380=) | |
| 11 | g.116790173A>T | CA477047018 | APOA5 | c.1056T>A (p.Thr352=) c.1140T>A (p.Thr380=) | |
| 11 | g.116790174G>A | CA6288940 | APOA5 | c.1055C>T (p.Thr352Ile) c.1139C>T (p.Thr380Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116790174G>C | CA382734093 | APOA5 | c.1055C>G (p.Thr352Ser) c.1139C>G (p.Thr380Ser) | gnomAD v4 |
| 11 | g.116790174G= | CA2002739842 | APOA5 | c.1055C= (p.Thr352=) c.1139C= (p.Thr380=) | |
| 11 | g.116790174G>T | CA382734095 | APOA5 | c.1055C>A (p.Thr352Asn) c.1139C>A (p.Thr380Asn) | gnomAD v4 |
| 11 | g.116790175T>A | CA382734097 | APOA5 | c.1054A>T (p.Thr352Ser) c.1138A>T (p.Thr380Ser) | |
| 11 | g.116790175T>C | CA382734099 | APOA5 | c.1054A>G (p.Thr352Ala) c.1138A>G (p.Thr380Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790175T>G | CA382734102 | APOA5 | c.1054A>C (p.Thr352Pro) c.1138A>C (p.Thr380Pro) | gnomAD v4 |
| 11 | g.116790175T= | CA2002739843 | APOA5 | c.1054A= (p.Thr352=) c.1138A= (p.Thr380=) | |
| 11 | g.116790176G>A | CA477047025 | APOA5 | c.1053C>T (p.Ile351=) c.1137C>T (p.Ile379=) | dbSNP gnomAD v4 |
| 11 | g.116790176G>C | CA382734104 | APOA5 | c.1053C>G (p.Ile351Met) c.1137C>G (p.Ile379Met) | |
| 11 | g.116790176G= | CA2002739844 | APOA5 | c.1053C= (p.Ile351=) c.1137C= (p.Ile379=) | |
| 11 | g.116790176G>T | CA477047029 | APOA5 | c.1053C>A (p.Ile351=) c.1137C>A (p.Ile379=) | |
| 11 | g.116790177A= | CA2002739845 | APOA5 | c.1052T= (p.Ile351=) c.1136T= (p.Ile379=) | |
| 11 | g.116790177A>C | CA382734106 | APOA5 | c.1052T>G (p.Ile351Ser) c.1136T>G (p.Ile379Ser) | |
| 11 | g.116790177A>G | CA6288941 | APOA5 | c.1052T>C (p.Ile351Thr) c.1136T>C (p.Ile379Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116790177A>T | CA382734109 | APOA5 | c.1052T>A (p.Ile351Asn) c.1136T>A (p.Ile379Asn) | |
| 11 | g.116790178T>A | CA382734116 | APOA5 | c.1051A>T (p.Ile351Phe) c.1135A>T (p.Ile379Phe) | |
| 11 | g.116790178T>C | CA382734114 | APOA5 | c.1051A>G (p.Ile351Val) c.1135A>G (p.Ile379Val) | |
| 11 | g.116790178T>G | CA382734112 | APOA5 | c.1051A>C (p.Ile351Leu) c.1135A>C (p.Ile379Leu) | |
| 11 | g.116790179G>A | CA477047037 | APOA5 | c.1050C>T (p.Asp350=) c.1134C>T (p.Asp378=) | |
| 11 | g.116790179G>C | CA382734119 | APOA5 | c.1050C>G (p.Asp350Glu) c.1134C>G (p.Asp378Glu) | gnomAD v4 |
| 11 | g.116790179G>T | CA382734121 | APOA5 | c.1050C>A (p.Asp350Glu) c.1134C>A (p.Asp378Glu) | |
| 11 | g.116790180T>A | CA382734125 | APOA5 | c.1049A>T (p.Asp350Val) c.1133A>T (p.Asp378Val) | |
| 11 | g.116790180T>C | CA382734127 | APOA5 | c.1049A>G (p.Asp350Gly) c.1133A>G (p.Asp378Gly) | |
| 11 | g.116790180T>G | CA382734130 | APOA5 | c.1049A>C (p.Asp350Ala) c.1133A>C (p.Asp378Ala) | gnomAD v4 |
| 11 | g.116790181C>A | CA382734134 | APOA5 | c.1048G>T (p.Asp350Tyr) c.1132G>T (p.Asp378Tyr) | |
| 11 | g.116790181C>G | CA382734139 | APOA5 | c.1048G>C (p.Asp350His) c.1132G>C (p.Asp378His) | |
| 11 | g.116790181C>T | CA382734142 | APOA5 | c.1048G>A (p.Asp350Asn) c.1132G>A (p.Asp378Asn) | COSMIC |
| 11 | g.116790182T>A | CA382734144 | APOA5 | c.1047A>T (p.Glu349Asp) c.1131A>T (p.Glu377Asp) | |
| 11 | g.116790182T>C | CA477047041 | APOA5 | c.1047A>G (p.Glu349=) c.1131A>G (p.Glu377=) | dbSNP gnomAD v4 |
| 11 | g.116790182T>G | CA382734146 | APOA5 | c.1047A>C (p.Glu349Asp) c.1131A>C (p.Glu377Asp) | |
| 11 | g.116790182T= | CA2002739846 | APOA5 | c.1047A= (p.Glu349=) c.1131A= (p.Glu377=) | |
| 11 | g.116790183T>A | CA382734148 | APOA5 | c.1046A>T (p.Glu349Val) c.1130A>T (p.Glu377Val) | |
| 11 | g.116790183T>C | CA382734150 | APOA5 | c.1046A>G (p.Glu349Gly) c.1130A>G (p.Glu377Gly) | |
| 11 | g.116790183T>G | CA382734153 | APOA5 | c.1046A>C (p.Glu349Ala) c.1130A>C (p.Glu377Ala) | |
| 11 | g.116790184C>A | CA382734162 | APOA5 | c.1045G>T (p.Glu349Ter) c.1129G>T (p.Glu377Ter) | |
| 11 | g.116790184C>G | CA382734160 | APOA5 | c.1045G>C (p.Glu349Gln) c.1129G>C (p.Glu377Gln) | COSMIC |
| 11 | g.116790184C>T | CA382734158 | APOA5 | c.1045G>A (p.Glu349Lys) c.1129G>A (p.Glu377Lys) | |
| 11 | g.116790185C>A | CA382734165 | APOA5 | c.1044G>T (p.Trp348Cys) c.1128G>T (p.Trp376Cys) | |
| 11 | g.116790185C= | CA2002739851 | APOA5 | c.1044G= (p.Trp348=) c.1128G= (p.Trp376=) | |
| 11 | g.116790185C>G | CA382734166 | APOA5 | c.1044G>C (p.Trp348Cys) c.1128G>C (p.Trp376Cys) | |
| 11 | g.116790185C>T | CA382734170 | APOA5 | c.1044G>A (p.Trp348Ter) c.1128G>A (p.Trp376Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116790186C>A | CA382734174 | APOA5 | c.1043G>T (p.Trp348Leu) c.1127G>T (p.Trp376Leu) | COSMIC |
| 11 | g.116790186C>G | CA382734177 | APOA5 | c.1043G>C (p.Trp348Ser) c.1127G>C (p.Trp376Ser) | |
| 11 | g.116790186C>T | CA382734180 | APOA5 | c.1043G>A (p.Trp348Ter) c.1127G>A (p.Trp376Ter) | |
| 11 | g.116790187A>C | CA382734184 | APOA5 | c.1042T>G (p.Trp348Gly) c.1126T>G (p.Trp376Gly) | |
| 11 | g.116790187A>G | CA382734186 | APOA5 | c.1042T>C (p.Trp348Arg) c.1126T>C (p.Trp376Arg) | |
| 11 | g.116790187A>T | CA382734190 | APOA5 | c.1042T>A (p.Trp348Arg) c.1126T>A (p.Trp376Arg) | |
| 11 | g.116790188C>A | CA477047051 | APOA5 | c.1041G>T (p.Leu347=) c.1125G>T (p.Leu375=) | |
| 11 | g.116790188C= | CA2002739855 | APOA5 | c.1041G= (p.Leu347=) c.1125G= (p.Leu375=) | |
| 11 | g.116790188C>G | CA477047052 | APOA5 | c.1041G>C (p.Leu347=) c.1125G>C (p.Leu375=) | |
| 11 | g.116790188C>T | CA477047053 | APOA5 | c.1041G>A (p.Leu347=) c.1125G>A (p.Leu375=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790189A>C | CA382734193 | APOA5 | c.1040T>G (p.Leu347Arg) c.1124T>G (p.Leu375Arg) | |
| 11 | g.116790189A>G | CA382734197 | APOA5 | c.1040T>C (p.Leu347Pro) c.1124T>C (p.Leu375Pro) | |
| 11 | g.116790189A>T | CA382734200 | APOA5 | c.1040T>A (p.Leu347Gln) c.1124T>A (p.Leu375Gln) | |
| 11 | g.116790190G>A | CA477047057 | APOA5 | c.1039C>T (p.Leu347=) c.1123C>T (p.Leu375=) | |
| 11 | g.116790190G>C | CA382734203 | APOA5 | c.1039C>G (p.Leu347Val) c.1123C>G (p.Leu375Val) | |
| 11 | g.116790190G= | CA2002739862 | APOA5 | c.1039C= (p.Leu347=) c.1123C= (p.Leu375=) | |
| 11 | g.116790190G>T | CA382734206 | APOA5 | c.1039C>A (p.Leu347Met) c.1123C>A (p.Leu375Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790191G>A | CA6288942 | APOA5 | c.1038C>T (p.Asp346=) c.1122C>T (p.Asp374=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790191G>C | CA382734212 | APOA5 | c.1038C>G (p.Asp346Glu) c.1122C>G (p.Asp374Glu) | |
| 11 | g.116790191G= | CA2002739863 | APOA5 | c.1038C= (p.Asp346=) c.1122C= (p.Asp374=) | |
| 11 | g.116790191G>T | CA382734209 | APOA5 | c.1038C>A (p.Asp346Glu) c.1122C>A (p.Asp374Glu) | |
| 11 | g.116790192T>A | CA382734218 | APOA5 | c.1037A>T (p.Asp346Val) c.1121A>T (p.Asp374Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790192T>C | CA382734219 | APOA5 | c.1037A>G (p.Asp346Gly) c.1121A>G (p.Asp374Gly) | |
| 11 | g.116790192T>G | CA382734220 | APOA5 | c.1037A>C (p.Asp346Ala) c.1121A>C (p.Asp374Ala) | |
| 11 | g.116790192T= | CA2002739864 | APOA5 | c.1037A= (p.Asp346=) c.1121A= (p.Asp374=) | |
| 11 | g.116790193C>A | CA382734222 | APOA5 | c.1036G>T (p.Asp346Tyr) c.1120G>T (p.Asp374Tyr) | |
| 11 | g.116790193C= | CA2002739866 | APOA5 | c.1036G= (p.Asp346=) c.1120G= (p.Asp374=) | |
| 11 | g.116790193C>G | CA229337112 | APOA5 | c.1036G>C (p.Asp346His) c.1120G>C (p.Asp374His) | dbSNP gnomAD v4 |
| 11 | g.116790193C>T | CA6288943 | APOA5 | c.1036G>A (p.Asp346Asn) c.1120G>A (p.Asp374Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790194A= | CA2002739868 | APOA5 | c.1035T= (p.Asp345=) c.1119T= (p.Asp373=) | |
| 11 | g.116790194A>C | CA382734231 | APOA5 | c.1035T>G (p.Asp345Glu) c.1119T>G (p.Asp373Glu) | |
| 11 | g.116790194A>G | CA477047062 | APOA5 | c.1035T>C (p.Asp345=) c.1119T>C (p.Asp373=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790194A>T | CA382734229 | APOA5 | c.1035T>A (p.Asp345Glu) c.1119T>A (p.Asp373Glu) | gnomAD v4 |
| 11 | g.116790195T>A | CA382734236 | APOA5 | c.1034A>T (p.Asp345Val) c.1118A>T (p.Asp373Val) | |
| 11 | g.116790195T>C | CA382734238 | APOA5 | c.1034A>G (p.Asp345Gly) c.1118A>G (p.Asp373Gly) | |
| 11 | g.116790195T>G | CA382734241 | APOA5 | c.1034A>C (p.Asp345Ala) c.1118A>C (p.Asp373Ala) | |
| 11 | g.116790195dup | CA2616085780 | APOA5 | c.1034dup (p.Asp345GlufsTer2) c.1118dup (p.Asp373GlufsTer2) | gnomAD v4 |
| 11 | g.116790196C>A | CA382734244 | APOA5 | c.1033G>T (p.Asp345Tyr) c.1117G>T (p.Asp373Tyr) | gnomAD v4 |
| 11 | g.116790196C>G | CA382734246 | APOA5 | c.1033G>C (p.Asp345His) c.1117G>C (p.Asp373His) | |
| 11 | g.116790196C>T | CA382734250 | APOA5 | c.1033G>A (p.Asp345Asn) c.1117G>A (p.Asp373Asn) | gnomAD v4 |
| 11 | g.116790197C>A | CA477047066 | APOA5 | c.1032G>T (p.Leu344=) c.1116G>T (p.Leu372=) | |
| 11 | g.116790197C>G | CA477047067 | APOA5 | c.1032G>C (p.Leu344=) c.1116G>C (p.Leu372=) | |
| 11 | g.116790197C>T | CA477047068 | APOA5 | c.1032G>A (p.Leu344=) c.1116G>A (p.Leu372=) | |
| 11 | g.116790198A>C | CA382734259 | APOA5 | c.1031T>G (p.Leu344Arg) c.1115T>G (p.Leu372Arg) | |
| 11 | g.116790198A>G | CA382734253 | APOA5 | c.1031T>C (p.Leu344Pro) c.1115T>C (p.Leu372Pro) | |
| 11 | g.116790198A>T | CA382734256 | APOA5 | c.1031T>A (p.Leu344Gln) c.1115T>A (p.Leu372Gln) | |
| 11 | g.116790199G>A | CA477047071 | APOA5 | c.1030C>T (p.Leu344=) c.1114C>T (p.Leu372=) | |
| 11 | g.116790199G>C | CA382734262 | APOA5 | c.1030C>G (p.Leu344Val) c.1114C>G (p.Leu372Val) | |
| 11 | g.116790199G>T | CA382734264 | APOA5 | c.1030C>A (p.Leu344Met) c.1114C>A (p.Leu372Met) | |
| 11 | g.116790200A= | CA2002739871 | APOA5 | c.1029T= (p.Arg343=) c.1113T= (p.Arg371=) | |
| 11 | g.116790200A>C | CA477047076 | APOA5 | c.1029T>G (p.Arg343=) c.1113T>G (p.Arg371=) | |
| 11 | g.116790200A>G | CA477047074 | APOA5 | c.1029T>C (p.Arg343=) c.1113T>C (p.Arg371=) | |
| 11 | g.116790200A>T | CA477047075 | APOA5 | c.1029T>A (p.Arg343=) c.1113T>A (p.Arg371=) | |
| 11 | g.116790201C>A | CA382734268 | APOA5 | c.1028G>T (p.Arg343Leu) c.1112G>T (p.Arg371Leu) | |
| 11 | g.116790201C= | CA2002739875 | APOA5 | c.1028G= (p.Arg343=) c.1112G= (p.Arg371=) | |
| 11 | g.116790201C>G | CA382734271 | APOA5 | c.1028G>C (p.Arg343Pro) c.1112G>C (p.Arg371Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116790201C>T | CA382734273 | APOA5 | c.1028G>A (p.Arg343His) c.1112G>A (p.Arg371His) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116790202_116790229dup | CA602136299 | APOA5 | c.1001_1028dup (p.Leu344GlnfsTer12) c.1085_1112dup (p.Leu372GlnfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790202G>A | CA6288944 | APOA5 | c.1027C>T (p.Arg343Cys) c.1111C>T (p.Arg371Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790202G>C | CA382734277 | APOA5 | c.1027C>G (p.Arg343Gly) c.1111C>G (p.Arg371Gly) | dbSNP gnomAD v4 |
| 11 | g.116790202G= | CA2002739879 | APOA5 | c.1027C= (p.Arg343=) c.1111C= (p.Arg371=) | |
| 11 | g.116790202G>T | CA382734280 | APOA5 | c.1027C>A (p.Arg343Ser) c.1111C>A (p.Arg371Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790203G>A | CA477047078 | APOA5 | c.1026C>T (p.Ala342=) c.1110C>T (p.Ala370=) | |
| 11 | g.116790203G>C | CA477047079 | APOA5 | c.1026C>G (p.Ala342=) c.1110C>G (p.Ala370=) | |
| 11 | g.116790203G= | CA2002739881 | APOA5 | c.1026C= (p.Ala342=) c.1110C= (p.Ala370=) | |
| 11 | g.116790203G>T | CA6288945 | APOA5 | c.1026C>A (p.Ala342=) c.1110C>A (p.Ala370=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116790204G>A | CA382734287 | APOA5 | c.1025C>T (p.Ala342Val) c.1109C>T (p.Ala370Val) | ClinVar |
| 11 | g.116790204G>C | CA382734290 | APOA5 | c.1025C>G (p.Ala342Gly) c.1109C>G (p.Ala370Gly) | |
| 11 | g.116790204G= | CA2002739885 | APOA5 | c.1025C= (p.Ala342=) c.1109C= (p.Ala370=) | |
| 11 | g.116790204G>T | CA382734293 | APOA5 | c.1025C>A (p.Ala342Asp) c.1109C>A (p.Ala370Asp) | |
| 11 | g.116790204_116790205insAATCCCTGAATC | CA2739291540 | APOA5 | c.1024_1025insGATTCAGGGATT (p.Ala342delinsGlyPheArgAspSer) c.1108_1109insGATTCAGGGATT (p.Ala370delinsGlyPheArgAspSer) | |
| 11 | g.116790205C>A | CA382734307 | APOA5 | c.1024G>T (p.Ala342Ser) c.1108G>T (p.Ala370Ser) | |
| 11 | g.116790205C= | CA2002739887 | APOA5 | c.1024G= (p.Ala342=) c.1108G= (p.Ala370=) | |
| 11 | g.116790205C>G | CA382734308 | APOA5 | c.1024G>C (p.Ala342Pro) c.1108G>C (p.Ala370Pro) | |
| 11 | g.116790205C>T | CA382734299 | APOA5 | c.1024G>A (p.Ala342Thr) c.1108G>A (p.Ala370Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790206_116790207insCACAATCCCTGAATCCC | CA6288946 | APOA5 | c.1024_1025insGATTCAGGGATTGTGGG (p.Ala342GlyfsTer?) c.1108_1109insGATTCAGGGATTGTGGG (p.Ala370GlyfsTer?) | dbSNP ExAC |
| 11 | g.116790206C>A | CA382734314 | APOA5 | c.1023G>T (p.Gln341His) c.1107G>T (p.Gln369His) | |
| 11 | g.116790206C= | CA2002739890 | APOA5 | c.1023G= (p.Gln341=) c.1107G= (p.Gln369=) | |
| 11 | g.116790206C>G | CA229337129 | APOA5 | c.1023G>C (p.Gln341His) c.1107G>C (p.Gln369His) | dbSNP |
| 11 | g.116790206C>T | CA477047083 | APOA5 | c.1023G>A (p.Gln341=) c.1107G>A (p.Gln369=) | |
| 11 | g.116790207T>A | CA382734317 | APOA5 | c.1022A>T (p.Gln341Leu) c.1106A>T (p.Gln369Leu) | |
| 11 | g.116790207T>C | CA382734319 | APOA5 | c.1022A>G (p.Gln341Arg) c.1106A>G (p.Gln369Arg) | |
| 11 | g.116790207T>G | CA382734323 | APOA5 | c.1022A>C (p.Gln341Pro) c.1106A>C (p.Gln369Pro) | |
| 11 | g.116790208G>A | CA382734326 | APOA5 | c.1021C>T (p.Gln341Ter) c.1105C>T (p.Gln369Ter) | |
| 11 | g.116790208G>C | CA382734327 | APOA5 | c.1021C>G (p.Gln341Glu) c.1105C>G (p.Gln369Glu) | |
| 11 | g.116790208G>T | CA382734330 | APOA5 | c.1021C>A (p.Gln341Lys) c.1105C>A (p.Gln369Lys) | |
| 11 | g.116790209C>A | CA477047085 | APOA5 | c.1020G>T (p.Leu340=) c.1104G>T (p.Leu368=) | gnomAD v4 |
| 11 | g.116790209C>G | CA477047086 | APOA5 | c.1020G>C (p.Leu340=) c.1104G>C (p.Leu368=) | |
| 11 | g.116790209C>T | CA477047087 | APOA5 | c.1020G>A (p.Leu340=) c.1104G>A (p.Leu368=) | |
| 11 | g.116790210A>C | CA382734336 | APOA5 | c.1019T>G (p.Leu340Arg) c.1103T>G (p.Leu368Arg) | |
| 11 | g.116790210A>G | CA382734338 | APOA5 | c.1019T>C (p.Leu340Pro) c.1103T>C (p.Leu368Pro) | gnomAD v4 |
| 11 | g.116790210A>T | CA382734340 | APOA5 | c.1019T>A (p.Leu340Gln) c.1103T>A (p.Leu368Gln) | |
| 11 | g.116790211G>A | CA477047091 | APOA5 | c.1018C>T (p.Leu340=) c.1102C>T (p.Leu368=) | |
| 11 | g.116790211G>C | CA382734342 | APOA5 | c.1018C>G (p.Leu340Val) c.1102C>G (p.Leu368Val) | |
| 11 | g.116790211G>T | CA382734344 | APOA5 | c.1018C>A (p.Leu340Met) c.1102C>A (p.Leu368Met) | |
| 11 | g.116790212C>A | CA382734350 | APOA5 | c.1017G>T (p.Lys339Asn) c.1101G>T (p.Lys367Asn) | |
| 11 | g.116790212C= | CA2002739895 | APOA5 | c.1017G= (p.Lys339=) c.1101G= (p.Lys367=) | |
| 11 | g.116790212C>G | CA382734352 | APOA5 | c.1017G>C (p.Lys339Asn) c.1101G>C (p.Lys367Asn) | |
| 11 | g.116790212C>T | CA477047092 | APOA5 | c.1017G>A (p.Lys339=) c.1101G>A (p.Lys367=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790213T>A | CA382734355 | APOA5 | c.1016A>T (p.Lys339Met) c.1100A>T (p.Lys367Met) | |
| 11 | g.116790213T>C | CA382734356 | APOA5 | c.1016A>G (p.Lys339Arg) c.1100A>G (p.Lys367Arg) | |
| 11 | g.116790213T>G | CA382734359 | APOA5 | c.1016A>C (p.Lys339Thr) c.1100A>C (p.Lys367Thr) | gnomAD v4 |
| 11 | g.116790214T>A | CA382734360 | APOA5 | c.1015A>T (p.Lys339Ter) c.1099A>T (p.Lys367Ter) | |
| 11 | g.116790214T>C | CA382734361 | APOA5 | c.1015A>G (p.Lys339Glu) c.1099A>G (p.Lys367Glu) | |
| 11 | g.116790214T>G | CA382734362 | APOA5 | c.1015A>C (p.Lys339Gln) c.1099A>C (p.Lys367Gln) | |
| 11 | g.116790215G>A | CA477047094 | APOA5 | c.1014C>T (p.Ser338=) c.1098C>T (p.Ser366=) | |
| 11 | g.116790215G>C | CA382734364 | APOA5 | c.1014C>G (p.Ser338Arg) c.1098C>G (p.Ser366Arg) | |
| 11 | g.116790215G>T | CA382734366 | APOA5 | c.1014C>A (p.Ser338Arg) c.1098C>A (p.Ser366Arg) | gnomAD v4 |
| 11 | g.116790216C>A | CA382734370 | APOA5 | c.1013G>T (p.Ser338Ile) c.1097G>T (p.Ser366Ile) | |
| 11 | g.116790216C>G | CA382734371 | APOA5 | c.1013G>C (p.Ser338Thr) c.1097G>C (p.Ser366Thr) | |
| 11 | g.116790216C>T | CA382734372 | APOA5 | c.1013G>A (p.Ser338Asn) c.1097G>A (p.Ser366Asn) | gnomAD v4 |
| 11 | g.116790217T>A | CA382734374 | APOA5 | c.1012A>T (p.Ser338Cys) c.1096A>T (p.Ser366Cys) | |
| 11 | g.116790217T>C | CA229337135 | APOA5 | c.1012A>G (p.Ser338Gly) c.1096A>G (p.Ser366Gly) | dbSNP |
| 11 | g.116790217T>G | CA382734373 | APOA5 | c.1012A>C (p.Ser338Arg) c.1096A>C (p.Ser366Arg) | |
| 11 | g.116790217T= | CA2002739897 | APOA5 | c.1012A= (p.Ser338=) c.1096A= (p.Ser366=) | |
| 11 | g.116790218C>A | CA477047099 | APOA5 | c.1011G>T (p.Leu337=) c.1095G>T (p.Leu365=) | |
| 11 | g.116790218C>G | CA477047101 | APOA5 | c.1011G>C (p.Leu337=) c.1095G>C (p.Leu365=) | |
| 11 | g.116790218C>T | CA477047103 | APOA5 | c.1011G>A (p.Leu337=) c.1095G>A (p.Leu365=) | |
| 11 | g.116790219A>C | CA382734378 | APOA5 | c.1010T>G (p.Leu337Arg) c.1094T>G (p.Leu365Arg) | |
| 11 | g.116790219A>G | CA382734381 | APOA5 | c.1010T>C (p.Leu337Pro) c.1094T>C (p.Leu365Pro) | |
| 11 | g.116790219A>T | CA382734385 | APOA5 | c.1010T>A (p.Leu337Gln) c.1094T>A (p.Leu365Gln) | |
| 11 | g.116790220G>A | CA477047104 | APOA5 | c.1009C>T (p.Leu337=) c.1093C>T (p.Leu365=) | |
| 11 | g.116790220G>C | CA382734389 | APOA5 | c.1009C>G (p.Leu337Val) c.1093C>G (p.Leu365Val) | |
| 11 | g.116790220G>T | CA382734391 | APOA5 | c.1009C>A (p.Leu337Met) c.1093C>A (p.Leu365Met) | |
| 11 | g.116790221A>C | CA477047108 | APOA5 | c.1008T>G (p.Val336=) c.1092T>G (p.Val364=) | |
| 11 | g.116790221A>G | CA477047106 | APOA5 | c.1008T>C (p.Val336=) c.1092T>C (p.Val364=) | |
| 11 | g.116790221A>T | CA477047107 | APOA5 | c.1008T>A (p.Val336=) c.1092T>A (p.Val364=) | |
| 11 | g.116790222A>C | CA382734394 | APOA5 | c.1007T>G (p.Val336Gly) c.1091T>G (p.Val364Gly) | |
| 11 | g.116790222A>G | CA382734396 | APOA5 | c.1007T>C (p.Val336Ala) c.1091T>C (p.Val364Ala) | |
| 11 | g.116790222A>T | CA382734398 | APOA5 | c.1007T>A (p.Val336Asp) c.1091T>A (p.Val364Asp) | |
| 11 | g.116790223C>A | CA382734402 | APOA5 | c.1006G>T (p.Val336Phe) c.1090G>T (p.Val364Phe) | |
| 11 | g.116790223C= | CA2002739903 | APOA5 | c.1006G= (p.Val336=) c.1090G= (p.Val364=) | |
| 11 | g.116790223C>G | CA382734405 | APOA5 | c.1006G>C (p.Val336Leu) c.1090G>C (p.Val364Leu) | |
| 11 | g.116790223C>T | CA382734406 | APOA5 | c.1006G>A (p.Val336Ile) c.1090G>A (p.Val364Ile) | dbSNP gnomAD v4 |
| 11 | g.116790224C>A | CA382734407 | APOA5 | c.1005G>T (p.Lys335Asn) c.1089G>T (p.Lys363Asn) | |
| 11 | g.116790224C= | CA2002739906 | APOA5 | c.1005G= (p.Lys335=) c.1089G= (p.Lys363=) | |
| 11 | g.116790224C>G | CA382734408 | APOA5 | c.1005G>C (p.Lys335Asn) c.1089G>C (p.Lys363Asn) | dbSNP gnomAD v4 |
| 11 | g.116790224C>T | CA477047110 | APOA5 | c.1005G>A (p.Lys335=) c.1089G>A (p.Lys363=) | |
| 11 | g.116790225T>A | CA382734416 | APOA5 | c.1004A>T (p.Lys335Met) c.1088A>T (p.Lys363Met) | |
| 11 | g.116790225T>C | CA382734413 | APOA5 | c.1004A>G (p.Lys335Arg) c.1088A>G (p.Lys363Arg) | gnomAD v4 |
| 11 | g.116790225T>G | CA382734410 | APOA5 | c.1004A>C (p.Lys335Thr) c.1088A>C (p.Lys363Thr) | |
| 11 | g.116790226T>A | CA382734417 | APOA5 | c.1003A>T (p.Lys335Ter) c.1087A>T (p.Lys363Ter) | |
| 11 | g.116790226T>C | CA382734420 | APOA5 | c.1003A>G (p.Lys335Glu) c.1087A>G (p.Lys363Glu) | |
| 11 | g.116790226T>G | CA382734423 | APOA5 | c.1003A>C (p.Lys335Gln) c.1087A>C (p.Lys363Gln) | |
| 11 | g.116790227G>A | CA477047114 | APOA5 | c.1002C>T (p.Gly334=) c.1086C>T (p.Gly362=) | |
| 11 | g.116790227G>C | CA477047113 | APOA5 | c.1002C>G (p.Gly334=) c.1086C>G (p.Gly362=) | gnomAD v4 |
| 11 | g.116790227G= | CA2002739910 | APOA5 | c.1002C= (p.Gly334=) c.1086C= (p.Gly362=) | |
| 11 | g.116790227G>T | CA6288947 | APOA5 | c.1002C>A (p.Gly334=) c.1086C>A (p.Gly362=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790227_116790234delinsGCCACTGT | CA2002739912 | APOA5 | c.995_1002delinsACAGTGGC (p.Asp332=) c.1079_1086delinsACAGTGGC (p.Asp360=) | |
| 11 | g.116790228C>A | CA6288948 | APOA5 | c.1001G>T (p.Gly334Val) c.1085G>T (p.Gly362Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790228C= | CA2002739916 | APOA5 | c.1001G= (p.Gly334=) c.1085G= (p.Gly362=) | |
| 11 | g.116790228C>G | CA382734430 | APOA5 | c.1001G>C (p.Gly334Ala) c.1085G>C (p.Gly362Ala) | |
| 11 | g.116790228C>T | CA382734434 | APOA5 | c.1001G>A (p.Gly334Asp) c.1085G>A (p.Gly362Asp) | |
| 11 | g.116790229dup | CA229337149 | APOA5 | c.1001dup (p.Lys335GlnfsTer12) c.1085dup (p.Lys363GlnfsTer12) | dbSNP gnomAD v4 |
| 11 | g.116790229_116790235del | CA942582940 | APOA5 | c.995_1001del (p.Asp332AlafsTer4) c.1079_1085del (p.Asp360AlafsTer4) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790229C>A | CA382734437 | APOA5 | c.1000G>T (p.Gly334Cys) c.1084G>T (p.Gly362Cys) | |
| 11 | g.116790229C= | CA2002739921 | APOA5 | c.1000G= (p.Gly334=) c.1084G= (p.Gly362=) | |
| 11 | g.116790229C>G | CA382734440 | APOA5 | c.1000G>C (p.Gly334Arg) c.1084G>C (p.Gly362Arg) | |
| 11 | g.116790229C>T | CA229337152 | APOA5 | c.1000G>A (p.Gly334Ser) c.1084G>A (p.Gly362Ser) | dbSNP |
| 11 | g.116790230A>C | CA382734445 | APOA5 | c.999T>G (p.Ser333Arg) c.1083T>G (p.Ser361Arg) | |
| 11 | g.116790230A>G | CA477047118 | APOA5 | c.999T>C (p.Ser333=) c.1083T>C (p.Ser361=) | |
| 11 | g.116790230A>T | CA382734455 | APOA5 | c.999T>A (p.Ser333Arg) c.1083T>A (p.Ser361Arg) |