| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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) | |
| 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) |