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