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.116790227_116790234delinsGCCACTGT | CA2002739912 | APOA5 | c.995_1002delinsACAGTGGC (p.Asp332=) c.1079_1086delinsACAGTGGC (p.Asp360=) | |
| 11 | g.116790229_116790235del | CA942582940 | APOA5 | c.995_1001del (p.Asp332AlafsTer4) c.1079_1085del (p.Asp360AlafsTer4) | dbSNP gnomAD v3 gnomAD v4 |
| 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) | |
| 11 | g.116790231C>A | CA382734465 | APOA5 | c.998G>T (p.Ser333Ile) c.1082G>T (p.Ser361Ile) | |
| 11 | g.116790231C= | CA2002739926 | APOA5 | c.998G= (p.Ser333=) c.1082G= (p.Ser361=) | |
| 11 | g.116790231C>G | CA382734467 | APOA5 | c.998G>C (p.Ser333Thr) c.1082G>C (p.Ser361Thr) | |
| 11 | g.116790231C>T | CA6288949 | APOA5 | c.998G>A (p.Ser333Asn) c.1082G>A (p.Ser361Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.116790235_116790238del | CA645571760 | APOA5 | c.995_998del (p.Asp332ValfsTer5) c.1079_1082del (p.Asp360ValfsTer5) | gnomAD v4 COSMIC |
| 11 | g.116790232T>A | CA382734473 | APOA5 | c.997A>T (p.Ser333Cys) c.1081A>T (p.Ser361Cys) | |
| 11 | g.116790232T>C | CA382734471 | APOA5 | c.997A>G (p.Ser333Gly) c.1081A>G (p.Ser361Gly) | |
| 11 | g.116790232T>G | CA382734474 | APOA5 | c.997A>C (p.Ser333Arg) c.1081A>C (p.Ser361Arg) | |
| 11 | g.116790233G>A | CA477047125 | APOA5 | c.996C>T (p.Asp332=) c.1080C>T (p.Asp360=) | gnomAD v4 |
| 11 | g.116790233G>C | CA382734475 | APOA5 | c.996C>G (p.Asp332Glu) c.1080C>G (p.Asp360Glu) | ClinVar gnomAD v4 |
| 11 | g.116790233G>T | CA382734476 | APOA5 | c.996C>A (p.Asp332Glu) c.1080C>A (p.Asp360Glu) | |
| 11 | g.116790234T>A | CA382734478 | APOA5 | c.995A>T (p.Asp332Val) c.1079A>T (p.Asp360Val) | |
| 11 | g.116790234T>C | CA382734489 | APOA5 | c.995A>G (p.Asp332Gly) c.1079A>G (p.Asp360Gly) | |
| 11 | g.116790234T>G | CA382734481 | APOA5 | c.995A>C (p.Asp332Ala) c.1079A>C (p.Asp360Ala) | |
| 11 | g.116790235C>A | CA382734492 | APOA5 | c.994G>T (p.Asp332Tyr) c.1078G>T (p.Asp360Tyr) | |
| 11 | g.116790235C>G | CA382734497 | APOA5 | c.994G>C (p.Asp332His) c.1078G>C (p.Asp360His) | |
| 11 | g.116790235C>T | CA382734495 | APOA5 | c.994G>A (p.Asp332Asn) c.1078G>A (p.Asp360Asn) | |
| 11 | g.116790235_116790239delinsCTGTT | CA2002739929 | APOA5 | c.990_994delinsAACAG (p.Gln330=) c.1074_1078delinsAACAG (p.Gln358=) | |
| 11 | g.116790236T>A | CA477047133 | APOA5 | c.993A>T (p.Thr331=) c.1077A>T (p.Thr359=) | |
| 11 | g.116790236T>C | CA477047134 | APOA5 | c.993A>G (p.Thr331=) c.1077A>G (p.Thr359=) | dbSNP |
| 11 | g.116790236T>G | CA477047132 | APOA5 | c.993A>C (p.Thr331=) c.1077A>C (p.Thr359=) | |
| 11 | g.116790236dup | CA2616085821 | APOA5 | c.993dup (p.Asp332ArgfsTer15) c.1077dup (p.Asp360ArgfsTer15) | gnomAD v4 |
| 11 | g.116790240_116790243del | CA6288950 | APOA5 | c.990_993del (p.Asp332ValfsTer5) c.1074_1077del (p.Asp360ValfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790237G>A | CA382734502 | APOA5 | c.992C>T (p.Thr331Ile) c.1076C>T (p.Thr359Ile) | |
| 11 | g.116790237G>C | CA382734504 | APOA5 | c.992C>G (p.Thr331Arg) c.1076C>G (p.Thr359Arg) | |
| 11 | g.116790237G>T | CA382734507 | APOA5 | c.992C>A (p.Thr331Lys) c.1076C>A (p.Thr359Lys) | |
| 11 | g.116790238T>A | CA382734509 | APOA5 | c.991A>T (p.Thr331Ser) c.1075A>T (p.Thr359Ser) | |
| 11 | g.116790238T>C | CA382734510 | APOA5 | c.991A>G (p.Thr331Ala) c.1075A>G (p.Thr359Ala) | |
| 11 | g.116790238T>G | CA382734511 | APOA5 | c.991A>C (p.Thr331Pro) c.1075A>C (p.Thr359Pro) | |
| 11 | g.116790239T>A | CA382734512 | APOA5 | c.990A>T (p.Gln330His) c.1074A>T (p.Gln358His) | |
| 11 | g.116790239T>C | CA477047138 | APOA5 | c.990A>G (p.Gln330=) c.1074A>G (p.Gln358=) | |
| 11 | g.116790239T>G | CA382734513 | APOA5 | c.990A>C (p.Gln330His) c.1074A>C (p.Gln358His) | |
| 11 | g.116790240T>A | CA382734525 | APOA5 | c.989A>T (p.Gln330Leu) c.1073A>T (p.Gln358Leu) | |
| 11 | g.116790240T>C | CA382734529 | APOA5 | c.989A>G (p.Gln330Arg) c.1073A>G (p.Gln358Arg) | |
| 11 | g.116790240T>G | CA382734531 | APOA5 | c.989A>C (p.Gln330Pro) c.1073A>C (p.Gln358Pro) | |
| 11 | g.116790241G>A | CA382734545 | APOA5 | c.988C>T (p.Gln330Ter) c.1072C>T (p.Gln358Ter) | |
| 11 | g.116790241G>C | CA382734536 | APOA5 | c.988C>G (p.Gln330Glu) c.1072C>G (p.Gln358Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790241G= | CA2002739933 | APOA5 | c.988C= (p.Gln330=) c.1072C= (p.Gln358=) | |
| 11 | g.116790241G>T | CA382734541 | APOA5 | c.988C>A (p.Gln330Lys) c.1072C>A (p.Gln358Lys) | |
| 11 | g.116790242T>A | CA382734549 | APOA5 | c.987A>T (p.Gln329His) c.1071A>T (p.Gln357His) | gnomAD v4 |
| 11 | g.116790242T>C | CA477047140 | APOA5 | c.987A>G (p.Gln329=) c.1071A>G (p.Gln357=) | |
| 11 | g.116790242T>G | CA382734552 | APOA5 | c.987A>C (p.Gln329His) c.1071A>C (p.Gln357His) | |
| 11 | g.116790243T>A | CA382734558 | APOA5 | c.986A>T (p.Gln329Leu) c.1070A>T (p.Gln357Leu) | |
| 11 | g.116790243T>C | CA382734561 | APOA5 | c.986A>G (p.Gln329Arg) c.1070A>G (p.Gln357Arg) | |
| 11 | g.116790243T>G | CA382734564 | APOA5 | c.986A>C (p.Gln329Pro) c.1070A>C (p.Gln357Pro) | |
| 11 | g.116790244G>A | CA382734569 | APOA5 | c.985C>T (p.Gln329Ter) c.1069C>T (p.Gln357Ter) | COSMIC |
| 11 | g.116790244G>C | CA382734571 | APOA5 | c.985C>G (p.Gln329Glu) c.1069C>G (p.Gln357Glu) | |
| 11 | g.116790244G>T | CA382734573 | APOA5 | c.985C>A (p.Gln329Lys) c.1069C>A (p.Gln357Lys) | |
| 11 | g.116790245A>C | CA382734576 | APOA5 | c.984T>G (p.Phe328Leu) c.1068T>G (p.Phe356Leu) | |
| 11 | g.116790245A>G | CA477047148 | APOA5 | c.984T>C (p.Phe328=) c.1068T>C (p.Phe356=) | gnomAD v4 |
| 11 | g.116790245A>T | CA382734581 | APOA5 | c.984T>A (p.Phe328Leu) c.1068T>A (p.Phe356Leu) | |
| 11 | g.116790246A>C | CA382734587 | APOA5 | c.983T>G (p.Phe328Cys) c.1067T>G (p.Phe356Cys) | |
| 11 | g.116790246A>G | CA382734586 | APOA5 | c.983T>C (p.Phe328Ser) c.1067T>C (p.Phe356Ser) | |
| 11 | g.116790246A>T | CA382734585 | APOA5 | c.983T>A (p.Phe328Tyr) c.1067T>A (p.Phe356Tyr) | |
| 11 | g.116790247A= | CA2002739937 | APOA5 | c.982T= (p.Phe328=) c.1066T= (p.Phe356=) | |
| 11 | g.116790247A>C | CA382734592 | APOA5 | c.982T>G (p.Phe328Val) c.1066T>G (p.Phe356Val) | dbSNP |
| 11 | g.116790247A>G | CA382734603 | APOA5 | c.982T>C (p.Phe328Leu) c.1066T>C (p.Phe356Leu) | |
| 11 | g.116790247A>T | CA382734605 | APOA5 | c.982T>A (p.Phe328Ile) c.1066T>A (p.Phe356Ile) | |
| 11 | g.116790247_116790249delinsACT | CA2002739938 | APOA5 | c.980_982delinsAGT (p.Glu327=) c.1064_1066delinsAGT (p.Glu355=) | |
| 11 | g.116790248C>A | CA382734607 | APOA5 | c.981G>T (p.Glu327Asp) c.1065G>T (p.Glu355Asp) | |
| 11 | g.116790248C= | CA2002739941 | APOA5 | c.981G= (p.Glu327=) c.1065G= (p.Glu355=) | |
| 11 | g.116790248C>G | CA382734609 | APOA5 | c.981G>C (p.Glu327Asp) c.1065G>C (p.Glu355Asp) | |
| 11 | g.116790248C>T | CA6288951 | APOA5 | c.981G>A (p.Glu327=) c.1065G>A (p.Glu355=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116790250_116790251del | CA2002739942 | APOA5 | c.980_981del (p.Glu327ValfsTer19) c.1064_1065del (p.Glu355ValfsTer19) | dbSNP |
| 11 | g.116790249T>A | CA382734616 | APOA5 | c.980A>T (p.Glu327Val) c.1064A>T (p.Glu355Val) | |
| 11 | g.116790249T>C | CA382734628 | APOA5 | c.980A>G (p.Glu327Gly) c.1064A>G (p.Glu355Gly) | gnomAD v4 |
| 11 | g.116790249T>G | CA382734632 | APOA5 | c.980A>C (p.Glu327Ala) c.1064A>C (p.Glu355Ala) | |
| 11 | g.116790250C>A | CA382734639 | APOA5 | c.979G>T (p.Glu327Ter) c.1063G>T (p.Glu355Ter) | |
| 11 | g.116790250C= | CA2002739944 | APOA5 | c.979G= (p.Glu327=) c.1063G= (p.Glu355=) | |
| 11 | g.116790250C>G | CA382734642 | APOA5 | c.979G>C (p.Glu327Gln) c.1063G>C (p.Glu355Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790250C>T | CA382734646 | APOA5 | c.979G>A (p.Glu327Lys) c.1063G>A (p.Glu355Lys) | dbSNP |
| 11 | g.116790251T>A | CA477047321 | APOA5 | c.978A>T (p.Pro326=) c.1062A>T (p.Pro354=) | |
| 11 | g.116790251T>C | CA477047322 | APOA5 | c.978A>G (p.Pro326=) c.1062A>G (p.Pro354=) | |
| 11 | g.116790251T>G | CA229337168 | APOA5 | c.978A>C (p.Pro326=) c.1062A>C (p.Pro354=) | dbSNP |
| 11 | g.116790251T= | CA2002739946 | APOA5 | c.978A= (p.Pro326=) c.1062A= (p.Pro354=) | |
| 11 | g.116790252G>A | CA382734660 | APOA5 | c.977C>T (p.Pro326Leu) c.1061C>T (p.Pro354Leu) | |
| 11 | g.116790252G>C | CA382734657 | APOA5 | c.977C>G (p.Pro326Arg) c.1061C>G (p.Pro354Arg) | |
| 11 | g.116790252G>T | CA382734653 | APOA5 | c.977C>A (p.Pro326Gln) c.1061C>A (p.Pro354Gln) | COSMIC |
| 11 | g.116790253G>A | CA382734662 | APOA5 | c.976C>T (p.Pro326Ser) c.1060C>T (p.Pro354Ser) | |
| 11 | g.116790253G>C | CA382734665 | APOA5 | c.976C>G (p.Pro326Ala) c.1060C>G (p.Pro354Ala) | |
| 11 | g.116790253G>T | CA382734673 | APOA5 | c.976C>A (p.Pro326Thr) c.1060C>A (p.Pro354Thr) | |
| 11 | g.116790254G>A | CA6288952 | APOA5 | c.975C>T (p.Ala325=) c.1059C>T (p.Ala353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790254G>C | CA477047323 | APOA5 | c.975C>G (p.Ala325=) c.1059C>G (p.Ala353=) | |
| 11 | g.116790254G= | CA2002739950 | APOA5 | c.975C= (p.Ala325=) c.1059C= (p.Ala353=) | |
| 11 | g.116790254G>T | CA477047324 | APOA5 | c.975C>A (p.Ala325=) c.1059C>A (p.Ala353=) | |
| 11 | g.116790255G>A | CA382734681 | APOA5 | c.974C>T (p.Ala325Val) c.1058C>T (p.Ala353Val) | dbSNP |
| 11 | g.116790255G>C | CA382734683 | APOA5 | c.974C>G (p.Ala325Gly) c.1058C>G (p.Ala353Gly) | |
| 11 | g.116790255G= | CA2002739953 | APOA5 | c.974C= (p.Ala325=) c.1058C= (p.Ala353=) | |
| 11 | g.116790255G>T | CA382734685 | APOA5 | c.974C>A (p.Ala325Asp) c.1058C>A (p.Ala353Asp) | |
| 11 | g.116790256C>A | CA382734690 | APOA5 | c.973G>T (p.Ala325Ser) c.1057G>T (p.Ala353Ser) | gnomAD v4 |
| 11 | g.116790256C= | CA2002739956 | APOA5 | c.973G= (p.Ala325=) c.1057G= (p.Ala353=) | |
| 11 | g.116790256C>G | CA382734697 | APOA5 | c.973G>C (p.Ala325Pro) c.1057G>C (p.Ala353Pro) | |
| 11 | g.116790256C>T | CA6288953 | APOA5 | c.973G>A (p.Ala325Thr) c.1057G>A (p.Ala353Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.116790257G>A | CA477047325 | APOA5 | c.972C>T (p.Phe324=) c.1056C>T (p.Phe352=) | dbSNP gnomAD v4 COSMIC |
| 11 | g.116790257G>C | CA382734701 | APOA5 | c.972C>G (p.Phe324Leu) c.1056C>G (p.Phe352Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790257G= | CA2002739960 | APOA5 | c.972C= (p.Phe324=) c.1056C= (p.Phe352=) | |
| 11 | g.116790257G>T | CA382734703 | APOA5 | c.972C>A (p.Phe324Leu) c.1056C>A (p.Phe352Leu) | |
| 11 | g.116790258A>C | CA382734720 | APOA5 | c.971T>G (p.Phe324Cys) c.1055T>G (p.Phe352Cys) | |
| 11 | g.116790258A>G | CA382734718 | APOA5 | c.971T>C (p.Phe324Ser) c.1055T>C (p.Phe352Ser) | |
| 11 | g.116790258A>T | CA382734709 | APOA5 | c.971T>A (p.Phe324Tyr) c.1055T>A (p.Phe352Tyr) | |
| 11 | g.116790259A>C | CA382734722 | APOA5 | c.970T>G (p.Phe324Val) c.1054T>G (p.Phe352Val) | |
| 11 | g.116790259A>G | CA382734726 | APOA5 | c.970T>C (p.Phe324Leu) c.1054T>C (p.Phe352Leu) | |
| 11 | g.116790259A>T | CA382734724 | APOA5 | c.970T>A (p.Phe324Ile) c.1054T>A (p.Phe352Ile) | |
| 11 | g.116790260G>A | CA477047329 | APOA5 | c.969C>T (p.Ala323=) c.1053C>T (p.Ala351=) | dbSNP |
| 11 | g.116790260G>C | CA477047330 | APOA5 | c.969C>G (p.Ala323=) c.1053C>G (p.Ala351=) | |
| 11 | g.116790260G= | CA2002739964 | APOA5 | c.969C= (p.Ala323=) c.1053C= (p.Ala351=) | |
| 11 | g.116790260G>T | CA477047331 | APOA5 | c.969C>A (p.Ala323=) c.1053C>A (p.Ala351=) | |
| 11 | g.116790261G>A | CA382734730 | APOA5 | c.968C>T (p.Ala323Val) c.1052C>T (p.Ala351Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790261G>C | CA382734736 | APOA5 | c.968C>G (p.Ala323Gly) c.1052C>G (p.Ala351Gly) | |
| 11 | g.116790261G= | CA2002739968 | APOA5 | c.968C= (p.Ala323=) c.1052C= (p.Ala351=) | |
| 11 | g.116790261G>T | CA382734738 | APOA5 | c.968C>A (p.Ala323Asp) c.1052C>A (p.Ala351Asp) | |
| 11 | g.116790262C>A | CA382734742 | APOA5 | c.967G>T (p.Ala323Ser) c.1051G>T (p.Ala351Ser) | |
| 11 | g.116790262C>G | CA382734747 | APOA5 | c.967G>C (p.Ala323Pro) c.1051G>C (p.Ala351Pro) | |
| 11 | g.116790262C>T | CA382734749 | APOA5 | c.967G>A (p.Ala323Thr) c.1051G>A (p.Ala351Thr) | |
| 11 | g.116790263A>C | CA382734753 | APOA5 | c.966T>G (p.Ser322Arg) c.1050T>G (p.Ser350Arg) | |
| 11 | g.116790263A>G | CA477047333 | APOA5 | c.966T>C (p.Ser322=) c.1050T>C (p.Ser350=) | |
| 11 | g.116790263A>T | CA382734755 | APOA5 | c.966T>A (p.Ser322Arg) c.1050T>A (p.Ser350Arg) | |
| 11 | g.116790264C>A | CA382734757 | APOA5 | c.965G>T (p.Ser322Ile) c.1049G>T (p.Ser350Ile) | |
| 11 | g.116790264C>G | CA382734761 | APOA5 | c.965G>C (p.Ser322Thr) c.1049G>C (p.Ser350Thr) | |
| 11 | g.116790264C>T | CA382734763 | APOA5 | c.965G>A (p.Ser322Asn) c.1049G>A (p.Ser350Asn) | |
| 11 | g.116790265T>A | CA382734766 | APOA5 | c.964A>T (p.Ser322Cys) c.1048A>T (p.Ser350Cys) | |
| 11 | g.116790265T>C | CA382734764 | APOA5 | c.964A>G (p.Ser322Gly) c.1048A>G (p.Ser350Gly) | |
| 11 | g.116790265T>G | CA382734765 | APOA5 | c.964A>C (p.Ser322Arg) c.1048A>C (p.Ser350Arg) | |
| 11 | g.116790266G>A | CA477047337 | APOA5 | c.963C>T (p.His321=) c.1047C>T (p.His349=) | |
| 11 | g.116790266G>C | CA382734767 | APOA5 | c.963C>G (p.His321Gln) c.1047C>G (p.His349Gln) | |
| 11 | g.116790266G>T | CA382734770 | APOA5 | c.963C>A (p.His321Gln) c.1047C>A (p.His349Gln) | |
| 11 | g.116790267T>A | CA6288954 | APOA5 | c.962A>T (p.His321Leu) c.1046A>T (p.His349Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790267T>C | CA382734776 | APOA5 | c.962A>G (p.His321Arg) c.1046A>G (p.His349Arg) | |
| 11 | g.116790267T>G | CA382734778 | APOA5 | c.962A>C (p.His321Pro) c.1046A>C (p.His349Pro) | |
| 11 | g.116790267T= | CA2002739973 | APOA5 | c.962A= (p.His321=) c.1046A= (p.His349=) | |
| 11 | g.116790268G>A | CA382734781 | APOA5 | c.961C>T (p.His321Tyr) c.1045C>T (p.His349Tyr) | |
| 11 | g.116790268G>C | CA382734782 | APOA5 | c.961C>G (p.His321Asp) c.1045C>G (p.His349Asp) | |
| 11 | g.116790268G>T | CA382734783 | APOA5 | c.961C>A (p.His321Asn) c.1045C>A (p.His349Asn) | |
| 11 | g.116790269G>A | CA477047340 | APOA5 | c.960C>T (p.Gly320=) c.1044C>T (p.Gly348=) | |
| 11 | g.116790269G>C | CA477047342 | APOA5 | c.960C>G (p.Gly320=) c.1044C>G (p.Gly348=) | |
| 11 | g.116790269G>T | CA477047339 | APOA5 | c.960C>A (p.Gly320=) c.1044C>A (p.Gly348=) | |
| 11 | g.116790270C>A | CA382734786 | APOA5 | c.959G>T (p.Gly320Val) c.1043G>T (p.Gly348Val) | |
| 11 | g.116790270C>G | CA382734789 | APOA5 | c.959G>C (p.Gly320Ala) c.1043G>C (p.Gly348Ala) | |
| 11 | g.116790270C>T | CA382734793 | APOA5 | c.959G>A (p.Gly320Asp) c.1043G>A (p.Gly348Asp) | |
| 11 | g.116790271C>A | CA382734799 | APOA5 | c.958G>T (p.Gly320Cys) c.1042G>T (p.Gly348Cys) | |
| 11 | g.116790271C>G | CA382734801 | APOA5 | c.958G>C (p.Gly320Arg) c.1042G>C (p.Gly348Arg) | gnomAD v4 |
| 11 | g.116790271C>T | CA382734796 | APOA5 | c.958G>A (p.Gly320Ser) c.1042G>A (p.Gly348Ser) | |
| 11 | g.116790272T>A | CA477047349 | APOA5 | c.957A>T (p.Pro319=) c.1041A>T (p.Pro347=) | |
| 11 | g.116790272T>C | CA477047347 | APOA5 | c.957A>G (p.Pro319=) c.1041A>G (p.Pro347=) | gnomAD v4 |
| 11 | g.116790272T>G | CA477047345 | APOA5 | c.957A>C (p.Pro319=) c.1041A>C (p.Pro347=) | |
| 11 | g.116790273G>A | CA6288955 | APOA5 | c.956C>T (p.Pro319Leu) c.1040C>T (p.Pro347Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790273G>C | CA382734804 | APOA5 | c.956C>G (p.Pro319Arg) c.1040C>G (p.Pro347Arg) | |
| 11 | g.116790273G= | CA2002739979 | APOA5 | c.956C= (p.Pro319=) c.1040C= (p.Pro347=) | |
| 11 | g.116790273G>T | CA382734805 | APOA5 | c.956C>A (p.Pro319Gln) c.1040C>A (p.Pro347Gln) | |
| 11 | g.116790274G>A | CA382734807 | APOA5 | c.955C>T (p.Pro319Ser) c.1039C>T (p.Pro347Ser) | |
| 11 | g.116790274G>C | CA382734809 | APOA5 | c.955C>G (p.Pro319Ala) c.1039C>G (p.Pro347Ala) | |
| 11 | g.116790274G>T | CA382734812 | APOA5 | c.955C>A (p.Pro319Thr) c.1039C>A (p.Pro347Thr) | gnomAD v4 |
| 11 | g.116790275T>A | CA477047350 | APOA5 | c.954A>T (p.Pro318=) c.1038A>T (p.Pro346=) | |
| 11 | g.116790275T>C | CA477047353 | APOA5 | c.954A>G (p.Pro318=) c.1038A>G (p.Pro346=) | |
| 11 | g.116790275T>G | CA229337184 | APOA5 | c.954A>C (p.Pro318=) c.1038A>C (p.Pro346=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790275T= | CA2002739981 | APOA5 | c.954A= (p.Pro318=) c.1038A= (p.Pro346=) | |
| 11 | g.116790276G>A | CA382734814 | APOA5 | c.953C>T (p.Pro318Leu) c.1037C>T (p.Pro346Leu) | |
| 11 | g.116790276G>C | CA382734816 | APOA5 | c.953C>G (p.Pro318Arg) c.1037C>G (p.Pro346Arg) | |
| 11 | g.116790276G>T | CA382734819 | APOA5 | c.953C>A (p.Pro318Gln) c.1037C>A (p.Pro346Gln) | |
| 11 | g.116790277G>A | CA382734822 | APOA5 | c.952C>T (p.Pro318Ser) c.1036C>T (p.Pro346Ser) | |
| 11 | g.116790277G>C | CA382734825 | APOA5 | c.952C>G (p.Pro318Ala) c.1036C>G (p.Pro346Ala) | |
| 11 | g.116790277G>T | CA382734827 | APOA5 | c.952C>A (p.Pro318Thr) c.1036C>A (p.Pro346Thr) | |
| 11 | g.116790278A>C | CA477047355 | APOA5 | c.951T>G (p.Pro317=) c.1035T>G (p.Pro345=) | |
| 11 | g.116790278A>G | CA477047356 | APOA5 | c.951T>C (p.Pro317=) c.1035T>C (p.Pro345=) | |
| 11 | g.116790278A>T | CA477047357 | APOA5 | c.951T>A (p.Pro317=) c.1035T>A (p.Pro345=) | |
| 11 | g.116790279G>A | CA382734833 | APOA5 | c.950C>T (p.Pro317Leu) c.1034C>T (p.Pro345Leu) | |
| 11 | g.116790279G>C | CA382734836 | APOA5 | c.950C>G (p.Pro317Arg) c.1034C>G (p.Pro345Arg) | |
| 11 | g.116790279G>T | CA382734829 | APOA5 | c.950C>A (p.Pro317His) c.1034C>A (p.Pro345His) | |
| 11 | g.116790280G>A | CA229337191 | APOA5 | c.949C>T (p.Pro317Ser) c.1033C>T (p.Pro345Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790280G>C | CA382734842 | APOA5 | c.949C>G (p.Pro317Ala) c.1033C>G (p.Pro345Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790280G= | CA2002739984 | APOA5 | c.949C= (p.Pro317=) c.1033C= (p.Pro345=) | |
| 11 | g.116790280G>T | CA382734846 | APOA5 | c.949C>A (p.Pro317Thr) c.1033C>A (p.Pro345Thr) | |
| 11 | g.116790281T>A | CA477047360 | APOA5 | c.948A>T (p.Pro316=) c.1032A>T (p.Pro344=) | |
| 11 | g.116790281T>C | CA477047362 | APOA5 | c.948A>G (p.Pro316=) c.1032A>G (p.Pro344=) | |
| 11 | g.116790281T>G | CA477047364 | APOA5 | c.948A>C (p.Pro316=) c.1032A>C (p.Pro344=) | |
| 11 | g.116790282G>A | CA382734849 | APOA5 | c.947C>T (p.Pro316Leu) c.1031C>T (p.Pro344Leu) | |
| 11 | g.116790282G>C | CA382734851 | APOA5 | c.947C>G (p.Pro316Arg) c.1031C>G (p.Pro344Arg) | |
| 11 | g.116790282G>T | CA382734853 | APOA5 | c.947C>A (p.Pro316Gln) c.1031C>A (p.Pro344Gln) | |
| 11 | g.116790283G>A | CA382734855 | APOA5 | c.946C>T (p.Pro316Ser) c.1030C>T (p.Pro344Ser) | |
| 11 | g.116790283G>C | CA382734858 | APOA5 | c.946C>G (p.Pro316Ala) c.1030C>G (p.Pro344Ala) | |
| 11 | g.116790283G>T | CA382734857 | APOA5 | c.946C>A (p.Pro316Thr) c.1030C>A (p.Pro344Thr) | |
| 11 | g.116790284C>A | CA477047367 | APOA5 | c.945G>T (p.Ala315=) c.1029G>T (p.Ala343=) | |
| 11 | g.116790284C= | CA2002739989 | APOA5 | c.945G= (p.Ala315=) c.1029G= (p.Ala343=) | |
| 11 | g.116790284C>G | CA477047368 | APOA5 | c.945G>C (p.Ala315=) c.1029G>C (p.Ala343=) | |
| 11 | g.116790284C>T | CA6288956 | APOA5 | c.945G>A (p.Ala315=) c.1029G>A (p.Ala343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790285G>A | CA6288957 | APOA5 | c.944C>T (p.Ala315Val) c.1028C>T (p.Ala343Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116790285G>C | CA382734864 | APOA5 | c.944C>G (p.Ala315Gly) c.1028C>G (p.Ala343Gly) | |
| 11 | g.116790285G= | CA2002739993 | APOA5 | c.944C= (p.Ala315=) c.1028C= (p.Ala343=) | |
| 11 | g.116790285G>T | CA382734869 | APOA5 | c.944C>A (p.Ala315Glu) c.1028C>A (p.Ala343Glu) | |
| 11 | g.116790286C>A | CA382734873 | APOA5 | c.943G>T (p.Ala315Ser) c.1027G>T (p.Ala343Ser) | |
| 11 | g.116790286C>G | CA382734872 | APOA5 | c.943G>C (p.Ala315Pro) c.1027G>C (p.Ala343Pro) | |
| 11 | g.116790286C>T | CA382734870 | APOA5 | c.943G>A (p.Ala315Thr) c.1027G>A (p.Ala343Thr) | |
| 11 | g.116790287C>A | CA477047371 | APOA5 | c.942G>T (p.Leu314=) c.1026G>T (p.Leu342=) | |
| 11 | g.116790287C>G | CA477047372 | APOA5 | c.942G>C (p.Leu314=) c.1026G>C (p.Leu342=) | |
| 11 | g.116790287C>T | CA477047373 | APOA5 | c.942G>A (p.Leu314=) c.1026G>A (p.Leu342=) | |
| 11 | g.116790288A>C | CA382734875 | APOA5 | c.941T>G (p.Leu314Arg) c.1025T>G (p.Leu342Arg) | |
| 11 | g.116790288A>G | CA382734878 | APOA5 | c.941T>C (p.Leu314Pro) c.1025T>C (p.Leu342Pro) | |
| 11 | g.116790288A>T | CA382734876 | APOA5 | c.941T>A (p.Leu314Gln) c.1025T>A (p.Leu342Gln) | gnomAD v4 |
| 11 | g.116790289G>A | CA6288958 | APOA5 | c.940C>T (p.Leu314=) c.1024C>T (p.Leu342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790289G>C | CA382734882 | APOA5 | c.940C>G (p.Leu314Val) c.1024C>G (p.Leu342Val) | gnomAD v4 |
| 11 | g.116790289G= | CA2002739998 | APOA5 | c.940C= (p.Leu314=) c.1024C= (p.Leu342=) | |
| 11 | g.116790289G>T | CA382734880 | APOA5 | c.940C>A (p.Leu314Met) c.1024C>A (p.Leu342Met) | |
| 11 | g.116790290C>A | CA382734884 | APOA5 | c.939G>T (p.Gln313His) c.1023G>T (p.Gln341His) | |
| 11 | g.116790290C>G | CA382734887 | APOA5 | c.939G>C (p.Gln313His) c.1023G>C (p.Gln341His) | |
| 11 | g.116790290C>T | CA477047377 | APOA5 | c.939G>A (p.Gln313=) c.1023G>A (p.Gln341=) | |
| 11 | g.116790291T>A | CA382734888 | APOA5 | c.938A>T (p.Gln313Leu) c.1022A>T (p.Gln341Leu) | |
| 11 | g.116790291T>C | CA382734890 | APOA5 | c.938A>G (p.Gln313Arg) c.1022A>G (p.Gln341Arg) | |
| 11 | g.116790291T>G | CA382734892 | APOA5 | c.938A>C (p.Gln313Pro) c.1022A>C (p.Gln341Pro) | |
| 11 | g.116790292G>A | CA6288959 | APOA5 | c.937C>T (p.Gln313Ter) c.1021C>T (p.Gln341Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790292G>C | CA382734895 | APOA5 | c.937C>G (p.Gln313Glu) c.1021C>G (p.Gln341Glu) | |
| 11 | g.116790292G= | CA2002740007 | APOA5 | c.937C= (p.Gln313=) c.1021C= (p.Gln341=) | |
| 11 | g.116790292G>T | CA382734897 | APOA5 | c.937C>A (p.Gln313Lys) c.1021C>A (p.Gln341Lys) | |
| 11 | g.116790293C>A | CA382734900 | APOA5 | c.936G>T (p.Gln312His) c.1020G>T (p.Gln340His) | |
| 11 | g.116790293C>G | CA382734906 | APOA5 | c.936G>C (p.Gln312His) c.1020G>C (p.Gln340His) | |
| 11 | g.116790293C>T | CA477047381 | APOA5 | c.936G>A (p.Gln312=) c.1020G>A (p.Gln340=) | |
| 11 | g.116790294T>A | CA382734914 | APOA5 | c.935A>T (p.Gln312Leu) c.1019A>T (p.Gln340Leu) | |
| 11 | g.116790294T>C | CA382734912 | APOA5 | c.935A>G (p.Gln312Arg) c.1019A>G (p.Gln340Arg) | |
| 11 | g.116790294T>G | CA382734910 | APOA5 | c.935A>C (p.Gln312Pro) c.1019A>C (p.Gln340Pro) | |
| 11 | g.116790295G>A | CA382734918 | APOA5 | c.934C>T (p.Gln312Ter) c.1018C>T (p.Gln340Ter) | |
| 11 | g.116790295G>C | CA382734920 | APOA5 | c.934C>G (p.Gln312Glu) c.1018C>G (p.Gln340Glu) | |
| 11 | g.116790295G>T | CA382734922 | APOA5 | c.934C>A (p.Gln312Lys) c.1018C>A (p.Gln340Lys) | |
| 11 | g.116790296C>A | CA382734925 | APOA5 | c.933G>T (p.Gln311His) c.1017G>T (p.Gln339His) | |
| 11 | g.116790296C>G | CA382734928 | APOA5 | c.933G>C (p.Gln311His) c.1017G>C (p.Gln339His) | |
| 11 | g.116790296C>T | CA477047387 | APOA5 | c.933G>A (p.Gln311=) c.1017G>A (p.Gln339=) | |
| 11 | g.116790297T>A | CA382734930 | APOA5 | c.932A>T (p.Gln311Leu) c.1016A>T (p.Gln339Leu) | |
| 11 | g.116790297T>C | CA382734932 | APOA5 | c.932A>G (p.Gln311Arg) c.1016A>G (p.Gln339Arg) | ClinVar |
| 11 | g.116790297T>G | CA382734935 | APOA5 | c.932A>C (p.Gln311Pro) c.1016A>C (p.Gln339Pro) | |
| 11 | g.116790298G>A | CA382734945 | APOA5 | c.931C>T (p.Gln311Ter) c.1015C>T (p.Gln339Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790298G>C | CA382734947 | APOA5 | c.931C>G (p.Gln311Glu) c.1015C>G (p.Gln339Glu) | |
| 11 | g.116790298G= | CA2002740012 | APOA5 | c.931C= (p.Gln311=) c.1015C= (p.Gln339=) | |
| 11 | g.116790298G>T | CA382734949 | APOA5 | c.931C>A (p.Gln311Lys) c.1015C>A (p.Gln339Lys) | |
| 11 | g.116790299G>A | CA477047393 | APOA5 | c.930C>T (p.Val310=) c.1014C>T (p.Val338=) | |
| 11 | g.116790299G>C | CA477047394 | APOA5 | c.930C>G (p.Val310=) c.1014C>G (p.Val338=) | dbSNP gnomAD v4 |
| 11 | g.116790299G= | CA2002740016 | APOA5 | c.930C= (p.Val310=) c.1014C= (p.Val338=) | |
| 11 | g.116790299G>T | CA477047395 | APOA5 | c.930C>A (p.Val310=) c.1014C>A (p.Val338=) | |
| 11 | g.116790300A>C | CA382734962 | APOA5 | c.929T>G (p.Val310Gly) c.1013T>G (p.Val338Gly) | |
| 11 | g.116790300A>G | CA382734959 | APOA5 | c.929T>C (p.Val310Ala) c.1013T>C (p.Val338Ala) | |
| 11 | g.116790300A>T | CA382734951 | APOA5 | c.929T>A (p.Val310Asp) c.1013T>A (p.Val338Asp) | |
| 11 | g.116790301C>A | CA382734965 | APOA5 | c.928G>T (p.Val310Phe) c.1012G>T (p.Val338Phe) | |
| 11 | g.116790301C= | CA2002740021 | APOA5 | c.928G= (p.Val310=) c.1012G= (p.Val338=) | |
| 11 | g.116790301C>G | CA382734968 | APOA5 | c.928G>C (p.Val310Leu) c.1012G>C (p.Val338Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790301C>T | CA382734970 | APOA5 | c.928G>A (p.Val310Ile) c.1012G>A (p.Val338Ile) | |
| 11 | g.116790305_116790307del | CA2695215427 | APOA5 | c.926_928del (p.Glu309del) c.1010_1012del (p.Glu337del) | |
| 11 | g.116790302C>A | CA382734977 | APOA5 | c.927G>T (p.Glu309Asp) c.1011G>T (p.Glu337Asp) | |
| 11 | g.116790302C>G | CA382734979 | APOA5 | c.927G>C (p.Glu309Asp) c.1011G>C (p.Glu337Asp) | |
| 11 | g.116790302C>T | CA477047405 | APOA5 | c.927G>A (p.Glu309=) c.1011G>A (p.Glu337=) | |
| 11 | g.116790303T>A | CA382734983 | APOA5 | c.926A>T (p.Glu309Val) c.1010A>T (p.Glu337Val) | |
| 11 | g.116790303T>C | CA382734986 | APOA5 | c.926A>G (p.Glu309Gly) c.1010A>G (p.Glu337Gly) | |
| 11 | g.116790303T>G | CA382734990 | APOA5 | c.926A>C (p.Glu309Ala) c.1010A>C (p.Glu337Ala) | |
| 11 | g.116790304C>A | CA382734995 | APOA5 | c.925G>T (p.Glu309Ter) c.1009G>T (p.Glu337Ter) | |
| 11 | g.116790304C>G | CA382734998 | APOA5 | c.925G>C (p.Glu309Gln) c.1009G>C (p.Glu337Gln) | |
| 11 | g.116790304C>T | CA382735000 | APOA5 | c.925G>A (p.Glu309Lys) c.1009G>A (p.Glu337Lys) | |
| 11 | g.116790305C>A | CA382735002 | APOA5 | c.924G>T (p.Glu308Asp) c.1008G>T (p.Glu336Asp) | |
| 11 | g.116790305C>G | CA382735004 | APOA5 | c.924G>C (p.Glu308Asp) c.1008G>C (p.Glu336Asp) | |
| 11 | g.116790305C>T | CA477047407 | APOA5 | c.924G>A (p.Glu308=) c.1008G>A (p.Glu336=) | |
| 11 | g.116790306T>A | CA382735006 | APOA5 | c.923A>T (p.Glu308Val) c.1007A>T (p.Glu336Val) | |
| 11 | g.116790306T>C | CA382735010 | APOA5 | c.923A>G (p.Glu308Gly) c.1007A>G (p.Glu336Gly) | |
| 11 | g.116790306T>G | CA382735008 | APOA5 | c.923A>C (p.Glu308Ala) c.1007A>C (p.Glu336Ala) | |
| 11 | g.116790307C>A | CA382735013 | APOA5 | c.922G>T (p.Glu308Ter) c.1006G>T (p.Glu336Ter) | |
| 11 | g.116790307C>G | CA382735016 | APOA5 | c.922G>C (p.Glu308Gln) c.1006G>C (p.Glu336Gln) | gnomAD v4 |
| 11 | g.116790307C>T | CA382735018 | APOA5 | c.922G>A (p.Glu308Lys) c.1006G>A (p.Glu336Lys) | gnomAD v4 |
| 11 | g.116790308A= | CA2002740023 | APOA5 | c.921T= (p.Thr307=) c.1005T= (p.Thr335=) | |
| 11 | g.116790308A>C | CA477047412 | APOA5 | c.921T>G (p.Thr307=) c.1005T>G (p.Thr335=) | |
| 11 | g.116790308A>G | CA477047414 | APOA5 | c.921T>C (p.Thr307=) c.1005T>C (p.Thr335=) | dbSNP |
| 11 | g.116790308A>T | CA477047416 | APOA5 | c.921T>A (p.Thr307=) c.1005T>A (p.Thr335=) | gnomAD v4 |
| 11 | g.116790309G>A | CA382735022 | APOA5 | c.920C>T (p.Thr307Ile) c.1004C>T (p.Thr335Ile) | |
| 11 | g.116790309G>C | CA382735024 | APOA5 | c.920C>G (p.Thr307Ser) c.1004C>G (p.Thr335Ser) | |
| 11 | g.116790309G>T | CA382735027 | APOA5 | c.920C>A (p.Thr307Asn) c.1004C>A (p.Thr335Asn) | |
| 11 | g.116790310T>A | CA382735031 | APOA5 | c.919A>T (p.Thr307Ser) c.1003A>T (p.Thr335Ser) | |
| 11 | g.116790310T>C | CA6288960 | APOA5 | c.919A>G (p.Thr307Ala) c.1003A>G (p.Thr335Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790310T>G | CA382735032 | APOA5 | c.919A>C (p.Thr307Pro) c.1003A>C (p.Thr335Pro) | |
| 11 | g.116790310T= | CA2002740025 | APOA5 | c.919A= (p.Thr307=) c.1003A= (p.Thr335=) | |
| 11 | g.116790311C>A | CA382735033 | APOA5 | c.918G>T (p.Glu306Asp) c.1002G>T (p.Glu334Asp) | |
| 11 | g.116790311C>G | CA382735036 | APOA5 | c.918G>C (p.Glu306Asp) c.1002G>C (p.Glu334Asp) | |
| 11 | g.116790311C>T | CA477047420 | APOA5 | c.918G>A (p.Glu306=) c.1002G>A (p.Glu334=) | gnomAD v4 |
| 11 | g.116790312T>A | CA382735041 | APOA5 | c.917A>T (p.Glu306Val) c.1001A>T (p.Glu334Val) | |
| 11 | g.116790312T>C | CA382735047 | APOA5 | c.917A>G (p.Glu306Gly) c.1001A>G (p.Glu334Gly) | |
| 11 | g.116790312T>G | CA382735037 | APOA5 | c.917A>C (p.Glu306Ala) c.1001A>C (p.Glu334Ala) | |
| 11 | g.116790313C>A | CA382735056 | APOA5 | c.916G>T (p.Glu306Ter) c.1000G>T (p.Glu334Ter) | |
| 11 | g.116790313C= | CA2002740030 | APOA5 | c.916G= (p.Glu306=) c.1000G= (p.Glu334=) | |
| 11 | g.116790313C>G | CA382735051 | APOA5 | c.916G>C (p.Glu306Gln) c.1000G>C (p.Glu334Gln) | |
| 11 | g.116790313C>T | CA229337236 | APOA5 | c.916G>A (p.Glu306Lys) c.1000G>A (p.Glu334Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116790314C>A | CA382735060 | APOA5 | c.915G>T (p.Gln305His) c.999G>T (p.Gln333His) | |
| 11 | g.116790314C= | CA2002740034 | APOA5 | c.915G= (p.Gln305=) c.999G= (p.Gln333=) | |
| 11 | g.116790314C>G | CA382735062 | APOA5 | c.915G>C (p.Gln305His) c.999G>C (p.Gln333His) | |
| 11 | g.116790314C>T | CA477047426 | APOA5 | c.915G>A (p.Gln305=) c.999G>A (p.Gln333=) | dbSNP |
| 11 | g.116790315T>A | CA382735065 | APOA5 | c.914A>T (p.Gln305Leu) c.998A>T (p.Gln333Leu) | |
| 11 | g.116790315T>C | CA382735069 | APOA5 | c.914A>G (p.Gln305Arg) c.998A>G (p.Gln333Arg) | |
| 11 | g.116790315T>G | CA382735072 | APOA5 | c.914A>C (p.Gln305Pro) c.998A>C (p.Gln333Pro) | |
| 11 | g.116790316G>A | CA382735075 | APOA5 | c.913C>T (p.Gln305Ter) c.997C>T (p.Gln333Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790316G>C | CA382735076 | APOA5 | c.913C>G (p.Gln305Glu) c.997C>G (p.Gln333Glu) | |
| 11 | g.116790316G= | CA2002740036 | APOA5 | c.913C= (p.Gln305=) c.997C= (p.Gln333=) | |
| 11 | g.116790316G>T | CA382735078 | APOA5 | c.913C>A (p.Gln305Lys) c.997C>A (p.Gln333Lys) | |
| 11 | g.116790317G>A | CA477047430 | APOA5 | c.912C>T (p.Asp304=) c.996C>T (p.Asp332=) | gnomAD v4 |
| 11 | g.116790317G>C | CA382735082 | APOA5 | c.912C>G (p.Asp304Glu) c.996C>G (p.Asp332Glu) | |
| 11 | g.116790317G>T | CA382735085 | APOA5 | c.912C>A (p.Asp304Glu) c.996C>A (p.Asp332Glu) | |
| 11 | g.116790318T>A | CA382735092 | APOA5 | c.911A>T (p.Asp304Val) c.995A>T (p.Asp332Val) | |
| 11 | g.116790318T>C | CA382735094 | APOA5 | c.911A>G (p.Asp304Gly) c.995A>G (p.Asp332Gly) | gnomAD v4 |
| 11 | g.116790318T>G | CA382735089 | APOA5 | c.911A>C (p.Asp304Ala) c.995A>C (p.Asp332Ala) | |
| 11 | g.116790319C>A | CA382735100 | APOA5 | c.910G>T (p.Asp304Tyr) c.994G>T (p.Asp332Tyr) | |
| 11 | g.116790319C>G | CA382735102 | APOA5 | c.910G>C (p.Asp304His) c.994G>C (p.Asp332His) | |
| 11 | g.116790319C>T | CA382735104 | APOA5 | c.910G>A (p.Asp304Asn) c.994G>A (p.Asp332Asn) | gnomAD v4 |
| 11 | g.116790320G>A | CA477047432 | APOA5 | c.909C>T (p.Ile303=) c.993C>T (p.Ile331=) | COSMIC |
| 11 | g.116790320G>C | CA382735107 | APOA5 | c.909C>G (p.Ile303Met) c.993C>G (p.Ile331Met) | |
| 11 | g.116790320G>T | CA477047434 | APOA5 | c.909C>A (p.Ile303=) c.993C>A (p.Ile331=) | |
| 11 | g.116790321A>C | CA382735110 | APOA5 | c.908T>G (p.Ile303Ser) c.992T>G (p.Ile331Ser) | |
| 11 | g.116790321A>G | CA382735109 | APOA5 | c.908T>C (p.Ile303Thr) c.992T>C (p.Ile331Thr) | |
| 11 | g.116790321A>T | CA382735108 | APOA5 | c.908T>A (p.Ile303Asn) c.992T>A (p.Ile331Asn) | |
| 11 | g.116790322T>A | CA382735113 | APOA5 | c.907A>T (p.Ile303Phe) c.991A>T (p.Ile331Phe) | |
| 11 | g.116790322T>C | CA382735114 | APOA5 | c.907A>G (p.Ile303Val) c.991A>G (p.Ile331Val) | |
| 11 | g.116790322T>G | CA382735115 | APOA5 | c.907A>C (p.Ile303Leu) c.991A>C (p.Ile331Leu) | |
| 11 | g.116790323G>A | CA477047438 | APOA5 | c.906C>T (p.Ala302=) c.990C>T (p.Ala330=) | |
| 11 | g.116790323G>C | CA477047439 | APOA5 | c.906C>G (p.Ala302=) c.990C>G (p.Ala330=) | |
| 11 | g.116790323G>T | CA477047440 | APOA5 | c.906C>A (p.Ala302=) c.990C>A (p.Ala330=) | |
| 11 | g.116790324G>A | CA6288961 | APOA5 | c.905C>T (p.Ala302Val) c.989C>T (p.Ala330Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790324G>C | CA382735117 | APOA5 | c.905C>G (p.Ala302Gly) c.989C>G (p.Ala330Gly) | |
| 11 | g.116790324G= | CA2002740039 | APOA5 | c.905C= (p.Ala302=) c.989C= (p.Ala330=) | |
| 11 | g.116790324G>T | CA382735119 | APOA5 | c.905C>A (p.Ala302Asp) c.989C>A (p.Ala330Asp) | |
| 11 | g.116790325C>A | CA382735126 | APOA5 | c.904G>T (p.Ala302Ser) c.988G>T (p.Ala330Ser) | |
| 11 | g.116790325C= | CA2002740042 | APOA5 | c.904G= (p.Ala302=) c.988G= (p.Ala330=) | |
| 11 | g.116790325C>G | CA382735123 | APOA5 | c.904G>C (p.Ala302Pro) c.988G>C (p.Ala330Pro) | gnomAD v4 |
| 11 | g.116790325C>T | CA229337240 | APOA5 | c.904G>A (p.Ala302Thr) c.988G>A (p.Ala330Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790326G>A | CA477047445 | APOA5 | c.903C>T (p.Arg301=) c.987C>T (p.Arg329=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790326G>C | CA477047446 | APOA5 | c.903C>G (p.Arg301=) c.987C>G (p.Arg329=) | |
| 11 | g.116790326G= | CA2002740045 | APOA5 | c.903C= (p.Arg301=) c.987C= (p.Arg329=) | |
| 11 | g.116790326G>T | CA477047447 | APOA5 | c.903C>A (p.Arg301=) c.987C>A (p.Arg329=) | |
| 11 | g.116790327C>A | CA382735128 | APOA5 | c.902G>T (p.Arg301Leu) c.986G>T (p.Arg329Leu) | |
| 11 | g.116790327C= | CA2002740047 | APOA5 | c.902G= (p.Arg301=) c.986G= (p.Arg329=) | |
| 11 | g.116790327C>G | CA382735130 | APOA5 | c.902G>C (p.Arg301Pro) c.986G>C (p.Arg329Pro) | |
| 11 | g.116790327C>T | CA229337251 | APOA5 | c.902G>A (p.Arg301His) c.986G>A (p.Arg329His) | ClinVar dbSNP gnomAD v4 |
| 11 | g.116790328G>A | CA229337257 | APOA5 | c.901C>T (p.Arg301Cys) c.985C>T (p.Arg329Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116790328G>C | CA382735135 | APOA5 | c.901C>G (p.Arg301Gly) c.985C>G (p.Arg329Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790328G= | CA2002740049 | APOA5 | c.901C= (p.Arg301=) c.985C= (p.Arg329=) | |
| 11 | g.116790328G>T | CA382735137 | APOA5 | c.901C>A (p.Arg301Ser) c.985C>A (p.Arg329Ser) | gnomAD v4 |
| 11 | g.116790329A>C | CA477047454 | APOA5 | c.900T>G (p.Thr300=) c.984T>G (p.Thr328=) | |
| 11 | g.116790329A>G | CA477047456 | APOA5 | c.900T>C (p.Thr300=) c.984T>C (p.Thr328=) | |
| 11 | g.116790329A>T | CA477047458 | APOA5 | c.900T>A (p.Thr300=) c.984T>A (p.Thr328=) | |
| 11 | g.116790330G>A | CA382735150 | APOA5 | c.899C>T (p.Thr300Ile) c.983C>T (p.Thr328Ile) | |
| 11 | g.116790330G>C | CA382735143 | APOA5 | c.899C>G (p.Thr300Ser) c.983C>G (p.Thr328Ser) | COSMIC |
| 11 | g.116790330G>T | CA382735147 | APOA5 | c.899C>A (p.Thr300Asn) c.983C>A (p.Thr328Asn) | gnomAD v4 |