Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116790620C>A | CA477047602 | APOA5 | c.609G>T (p.Gly203=) c.693G>T (p.Gly231=) | gnomAD v4 |
11 | g.116790620C= | CA2002740582 | APOA5 | c.609G= (p.Gly203=) c.693G= (p.Gly231=) | |
11 | g.116790620C>G | CA477047603 | APOA5 | c.609G>C (p.Gly203=) c.693G>C (p.Gly231=) | gnomAD v4 |
11 | g.116790620C>T | CA477047604 | APOA5 | c.609G>A (p.Gly203=) c.693G>A (p.Gly231=) | dbSNP |
11 | g.116790621C>A | CA382737834 | APOA5 | c.608G>T (p.Gly203Val) c.692G>T (p.Gly231Val) | |
11 | g.116790621C= | CA2002740586 | APOA5 | c.608G= (p.Gly203=) c.692G= (p.Gly231=) | |
11 | g.116790621C>G | CA382737836 | APOA5 | c.608G>C (p.Gly203Ala) c.692G>C (p.Gly231Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116790621C>T | CA382737838 | APOA5 | c.608G>A (p.Gly203Glu) c.692G>A (p.Gly231Glu) | |
11 | g.116790622C>A | CA6289041 | APOA5 | c.607G>T (p.Gly203Trp) c.691G>T (p.Gly231Trp) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.116790622C= | CA2002740589 | APOA5 | c.607G= (p.Gly203=) c.691G= (p.Gly231=) | |
11 | g.116790622C>G | CA229337786 | APOA5 | c.607G>C (p.Gly203Arg) c.691G>C (p.Gly231Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790622C>T | CA382737841 | APOA5 | c.607G>A (p.Gly203Arg) c.691G>A (p.Gly231Arg) | ClinVar gnomAD v4 |
11 | g.116790623del | CA2616086257 | APOA5 | c.606del (p.Ile202MetfsTer?) c.690del (p.Ile230MetfsTer?) | gnomAD v4 |
11 | g.116790623G>A | CA6289042 | APOA5 | c.606C>T (p.Ile202=) c.690C>T (p.Ile230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.116790623G>C | CA382737849 | APOA5 | c.606C>G (p.Ile202Met) c.690C>G (p.Ile230Met) | |
11 | g.116790623G= | CA2002740591 | APOA5 | c.606C= (p.Ile202=) c.690C= (p.Ile230=) | |
11 | g.116790623G>T | CA477047609 | APOA5 | c.606C>A (p.Ile202=) c.690C>A (p.Ile230=) | gnomAD v4 |
11 | g.116790624_116790637del | CA2695215433 | APOA5 | c.593_606del (p.Leu198ArgfsTer?) c.677_690del (p.Leu226ArgfsTer?) | |
11 | g.116790624A>C | CA382737852 | APOA5 | c.605T>G (p.Ile202Ser) c.689T>G (p.Ile230Ser) | |
11 | g.116790624A>G | CA382737854 | APOA5 | c.605T>C (p.Ile202Thr) c.689T>C (p.Ile230Thr) | |
11 | g.116790624A>T | CA382737856 | APOA5 | c.605T>A (p.Ile202Asn) c.689T>A (p.Ile230Asn) | |
11 | g.116790625T>A | CA382737859 | APOA5 | c.604A>T (p.Ile202Phe) c.688A>T (p.Ile230Phe) | |
11 | g.116790625T>C | CA382737861 | APOA5 | c.604A>G (p.Ile202Val) c.688A>G (p.Ile230Val) | |
11 | g.116790625T>G | CA382737864 | APOA5 | c.604A>C (p.Ile202Leu) c.688A>C (p.Ile230Leu) | |
11 | g.116790626G>A | CA477047614 | APOA5 | c.603C>T (p.Gly201=) c.687C>T (p.Gly229=) | gnomAD v4 |
11 | g.116790626G>C | CA477047615 | APOA5 | c.603C>G (p.Gly201=) c.687C>G (p.Gly229=) | |
11 | g.116790626G>T | CA477047621 | APOA5 | c.603C>A (p.Gly201=) c.687C>A (p.Gly229=) | gnomAD v4 |
11 | g.116790627C>A | CA382737867 | APOA5 | c.602G>T (p.Gly201Val) c.686G>T (p.Gly229Val) | |
11 | g.116790627C= | CA2002740594 | APOA5 | c.602G= (p.Gly201=) c.686G= (p.Gly229=) | |
11 | g.116790627C>G | CA382737869 | APOA5 | c.602G>C (p.Gly201Ala) c.686G>C (p.Gly229Ala) | gnomAD v4 |
11 | g.116790627C>T | CA382737871 | APOA5 | c.602G>A (p.Gly201Asp) c.686G>A (p.Gly229Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790628C>A | CA6289043 | APOA5 | c.601G>T (p.Gly201Cys) c.685G>T (p.Gly229Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116790628C= | CA2002740597 | APOA5 | c.601G= (p.Gly201=) c.685G= (p.Gly229=) | |
11 | g.116790628C>G | CA382737878 | APOA5 | c.601G>C (p.Gly201Arg) c.685G>C (p.Gly229Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790628C>T | CA382737875 | APOA5 | c.601G>A (p.Gly201Ser) c.685G>A (p.Gly229Ser) | |
11 | g.116790628_116790651del | CA2582342475 | APOA5 | c.578_601del (p.Pro193_Gly201delinsArg) c.662_685del (p.Pro221_Gly229delinsArg) | ClinVar |
11 | g.116790629G>A | CA477047628 | APOA5 | c.600C>T (p.Ser200=) c.684C>T (p.Ser228=) | gnomAD v4 |
11 | g.116790629G>C | CA382737881 | APOA5 | c.600C>G (p.Ser200Arg) c.684C>G (p.Ser228Arg) | |
11 | g.116790629G>T | CA382737883 | APOA5 | c.600C>A (p.Ser200Arg) c.684C>A (p.Ser228Arg) | gnomAD v4 |
11 | g.116790630C>A | CA382737886 | APOA5 | c.599G>T (p.Ser200Ile) c.683G>T (p.Ser228Ile) | gnomAD v4 |
11 | g.116790630C= | CA2002740602 | APOA5 | c.599G= (p.Ser200=) c.683G= (p.Ser228=) | |
11 | g.116790630C>G | CA382737888 | APOA5 | c.599G>C (p.Ser200Thr) c.683G>C (p.Ser228Thr) | |
11 | g.116790630C>T | CA6289044 | APOA5 | c.599G>A (p.Ser200Asn) c.683G>A (p.Ser228Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790631T>A | CA382737893 | APOA5 | c.598A>T (p.Ser200Cys) c.682A>T (p.Ser228Cys) | |
11 | g.116790631T>C | CA382737895 | APOA5 | c.598A>G (p.Ser200Gly) c.682A>G (p.Ser228Gly) | |
11 | g.116790631T>G | CA382737898 | APOA5 | c.598A>C (p.Ser200Arg) c.682A>C (p.Ser228Arg) | |
11 | g.116790632C>A | CA477047636 | APOA5 | c.597G>T (p.Val199=) c.681G>T (p.Val227=) | |
11 | g.116790632C= | CA2002740606 | APOA5 | c.597G= (p.Val199=) c.681G= (p.Val227=) | |
11 | g.116790632C>G | CA477047637 | APOA5 | c.597G>C (p.Val199=) c.681G>C (p.Val227=) | |
11 | g.116790632C>T | CA6289045 | APOA5 | c.597G>A (p.Val199=) c.681G>A (p.Val227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790633A>C | CA382737903 | APOA5 | c.596T>G (p.Val199Gly) c.680T>G (p.Val227Gly) | |
11 | g.116790633A>G | CA382737905 | APOA5 | c.596T>C (p.Val199Ala) c.680T>C (p.Val227Ala) | |
11 | g.116790633A>T | CA382737907 | APOA5 | c.596T>A (p.Val199Glu) c.680T>A (p.Val227Glu) | |
11 | g.116790634C>A | CA382737915 | APOA5 | c.595G>T (p.Val199Leu) c.679G>T (p.Val227Leu) | |
11 | g.116790634C= | CA2002740608 | APOA5 | c.595G= (p.Val199=) c.679G= (p.Val227=) | |
11 | g.116790634C>G | CA382737910 | APOA5 | c.595G>C (p.Val199Leu) c.679G>C (p.Val227Leu) | |
11 | g.116790634C>T | CA382737913 | APOA5 | c.595G>A (p.Val199Met) c.679G>A (p.Val227Met) | ClinVar dbSNP |
11 | g.116790635C>A | CA477047641 | APOA5 | c.594G>T (p.Leu198=) c.678G>T (p.Leu226=) | |
11 | g.116790635C= | CA2002740611 | APOA5 | c.594G= (p.Leu198=) c.678G= (p.Leu226=) | |
11 | g.116790635C>G | CA477047644 | APOA5 | c.594G>C (p.Leu198=) c.678G>C (p.Leu226=) | |
11 | g.116790635C>T | CA477047642 | APOA5 | c.594G>A (p.Leu198=) c.678G>A (p.Leu226=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790636A= | CA2002740616 | APOA5 | c.593T= (p.Leu198=) c.677T= (p.Leu226=) | |
11 | g.116790636A>C | CA382737917 | APOA5 | c.593T>G (p.Leu198Arg) c.677T>G (p.Leu226Arg) | |
11 | g.116790636A>G | CA382737920 | APOA5 | c.593T>C (p.Leu198Pro) c.677T>C (p.Leu226Pro) | ClinVar dbSNP gnomAD v2 |
11 | g.116790636A>T | CA382737922 | APOA5 | c.593T>A (p.Leu198Gln) c.677T>A (p.Leu226Gln) | |
11 | g.116790636_116790650delinsAGGCTCTCGGCGTAT | CA2002740618 | APOA5 | c.579_593delinsATACGCCGAGAGCCT (p.Pro193=) c.663_677delinsATACGCCGAGAGCCT (p.Pro221=) | |
11 | g.116790637G>A | CA477047651 | APOA5 | c.592C>T (p.Leu198=) c.676C>T (p.Leu226=) | |
11 | g.116790637G>C | CA382737925 | APOA5 | c.592C>G (p.Leu198Val) c.676C>G (p.Leu226Val) | |
11 | g.116790637G>T | CA382737927 | APOA5 | c.592C>A (p.Leu198Met) c.676C>A (p.Leu226Met) | |
11 | g.116790639_116790652del | CA1139662343 | APOA5 | c.579_592del (p.Tyr194GlyfsTer?) c.663_676del (p.Tyr222GlyfsTer?) | ClinVar dbSNP |
11 | g.116790638G>A | CA477047657 | APOA5 | c.591C>T (p.Ser197=) c.675C>T (p.Ser225=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.116790638G>C | CA382737930 | APOA5 | c.591C>G (p.Ser197Arg) c.675C>G (p.Ser225Arg) | |
11 | g.116790638G= | CA2002740626 | APOA5 | c.591C= (p.Ser197=) c.675C= (p.Ser225=) | |
11 | g.116790638G>T | CA382737933 | APOA5 | c.591C>A (p.Ser197Arg) c.675C>A (p.Ser225Arg) | gnomAD v4 |
11 | g.116790643_116790665del | CA2616086272 | APOA5 | c.569_591del (p.Leu190ProfsTer?) c.653_675del (p.Leu218ProfsTer?) | gnomAD v4 |
11 | g.116790639C>A | CA382737935 | APOA5 | c.590G>T (p.Ser197Ile) c.674G>T (p.Ser225Ile) | |
11 | g.116790639C= | CA2002740632 | APOA5 | c.590G= (p.Ser197=) c.674G= (p.Ser225=) | |
11 | g.116790639C>G | CA382737936 | APOA5 | c.590G>C (p.Ser197Thr) c.674G>C (p.Ser225Thr) | |
11 | g.116790639C>T | CA382737938 | APOA5 | c.590G>A (p.Ser197Asn) c.674G>A (p.Ser225Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116790642_116790643del | CA2616086277 | APOA5 | c.589_590del (p.Ser197ProfsTer?) c.673_674del (p.Ser225ProfsTer?) | gnomAD v4 |
11 | g.116790640T>A | CA382737941 | APOA5 | c.589A>T (p.Ser197Cys) c.673A>T (p.Ser225Cys) | |
11 | g.116790640T>C | CA382737943 | APOA5 | c.589A>G (p.Ser197Gly) c.673A>G (p.Ser225Gly) | |
11 | g.116790640T>G | CA382737945 | APOA5 | c.589A>C (p.Ser197Arg) c.673A>C (p.Ser225Arg) | |
11 | g.116790640T= | CA2002740635 | APOA5 | c.589A= (p.Ser197=) c.673A= (p.Ser225=) | |
11 | g.116790640_116790641insGGAAGAG | CA2002740638 | APOA5 | c.588_589insCTCTTCC (p.Ser197LeufsTer?) c.672_673insCTCTTCC (p.Ser225LeufsTer?) | dbSNP |
11 | g.116790641C>A | CA382737949 | APOA5 | c.588G>T (p.Glu196Asp) c.672G>T (p.Glu224Asp) | |
11 | g.116790641C= | CA2002740639 | APOA5 | c.588G= (p.Glu196=) c.672G= (p.Glu224=) | |
11 | g.116790641C>G | CA382737948 | APOA5 | c.588G>C (p.Glu196Asp) c.672G>C (p.Glu224Asp) | |
11 | g.116790641C>T | CA477047669 | APOA5 | c.588G>A (p.Glu196=) c.672G>A (p.Glu224=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790642T>A | CA382737952 | APOA5 | c.587A>T (p.Glu196Val) c.671A>T (p.Glu224Val) | |
11 | g.116790642T>C | CA382737954 | APOA5 | c.587A>G (p.Glu196Gly) c.671A>G (p.Glu224Gly) | |
11 | g.116790642T>G | CA382737956 | APOA5 | c.587A>C (p.Glu196Ala) c.671A>C (p.Glu224Ala) | |
11 | g.116790642T= | CA2002740644 | APOA5 | c.587A= (p.Glu196=) c.671A= (p.Glu224=) | |
11 | g.116790642_116790643insG | CA602136322 | APOA5 | c.586_587insC (p.Glu196AlafsTer?) c.670_671insC (p.Glu224AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790643C>A | CA382737959 | APOA5 | c.586G>T (p.Glu196Ter) c.670G>T (p.Glu224Ter) | |
11 | g.116790643C= | CA2002740650 | APOA5 | c.586G= (p.Glu196=) c.670G= (p.Glu224=) | |
11 | g.116790643C>G | CA382737962 | APOA5 | c.586G>C (p.Glu196Gln) c.670G>C (p.Glu224Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790643C>T | CA382737964 | APOA5 | c.586G>A (p.Glu196Lys) c.670G>A (p.Glu224Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790645_116790647dup | CA602136324 | APOA5 | c.584_586dup (p.Ala195_Glu196insAla) c.668_670dup (p.Ala223_Glu224insAla) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790643_116790644insTTTGA | CA2002740659 | APOA5 | c.585_586insTCAAA (p.Glu196SerfsTer6) c.669_670insTCAAA (p.Glu224SerfsTer6) | dbSNP |
11 | g.116790644G>A | CA477047679 | APOA5 | c.585C>T (p.Ala195=) c.669C>T (p.Ala223=) | dbSNP COSMIC |
11 | g.116790644G>C | CA477047681 | APOA5 | c.585C>G (p.Ala195=) c.669C>G (p.Ala223=) | |
11 | g.116790644G= | CA2002740662 | APOA5 | c.585C= (p.Ala195=) c.669C= (p.Ala223=) | |
11 | g.116790644G>T | CA477047678 | APOA5 | c.585C>A (p.Ala195=) c.669C>A (p.Ala223=) | gnomAD v4 |
11 | g.116790644_116790684delinsGGCGTATGGGTGGAAGAGCTCTTTGAAGCGGCCGGTGTGGT | CA2002740661 | APOA5 | c.545_585delinsACCACACCGGCCGCTTCAAAGAGCTCTTCCACCCATACGCC (p.His182=) c.629_669delinsACCACACCGGCCGCTTCAAAGAGCTCTTCCACCCATACGCC (p.His210=) | |
11 | g.116790645G>A | CA382737973 | APOA5 | c.584C>T (p.Ala195Val) c.668C>T (p.Ala223Val) | gnomAD v4 |
11 | g.116790645G>C | CA382737971 | APOA5 | c.584C>G (p.Ala195Gly) c.668C>G (p.Ala223Gly) | |
11 | g.116790645G>T | CA382737968 | APOA5 | c.584C>A (p.Ala195Asp) c.668C>A (p.Ala223Asp) | |
11 | g.116790647_116790686del | CA6289046 | APOA5 | c.545_584del (p.His182ProfsTer5) c.629_668del (p.His210ProfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790646C>A | CA382737976 | APOA5 | c.583G>T (p.Ala195Ser) c.667G>T (p.Ala223Ser) | gnomAD v4 |
11 | g.116790646C= | CA2002740666 | APOA5 | c.583G= (p.Ala195=) c.667G= (p.Ala223=) | |
11 | g.116790646C>G | CA382737978 | APOA5 | c.583G>C (p.Ala195Pro) c.667G>C (p.Ala223Pro) | |
11 | g.116790646C>T | CA382737980 | APOA5 | c.583G>A (p.Ala195Thr) c.667G>A (p.Ala223Thr) | dbSNP gnomAD v4 COSMIC |
11 | g.116790646_116790650delinsCGTAT | CA2002740668 | APOA5 | c.579_583delinsATACG (p.Pro193=) c.663_667delinsATACG (p.Pro221=) | |
11 | g.116790647G>A | CA477047690 | APOA5 | c.582C>T (p.Tyr194=) c.666C>T (p.Tyr222=) | gnomAD v4 |
11 | g.116790647G>C | CA382737983 | APOA5 | c.582C>G (p.Tyr194Ter) c.666C>G (p.Tyr222Ter) | |
11 | g.116790647G>T | CA382737985 | APOA5 | c.582C>A (p.Tyr194Ter) c.666C>A (p.Tyr222Ter) | gnomAD v4 |
11 | g.116790648_116790651del | CA2002740670 | APOA5 | c.579_582del (p.Tyr194ProfsTer5) c.663_666del (p.Tyr222ProfsTer5) | dbSNP |
11 | g.116790648T>A | CA382737988 | APOA5 | c.581A>T (p.Tyr194Phe) c.665A>T (p.Tyr222Phe) | |
11 | g.116790648T>C | CA382737992 | APOA5 | c.581A>G (p.Tyr194Cys) c.665A>G (p.Tyr222Cys) | |
11 | g.116790648T>G | CA382737989 | APOA5 | c.581A>C (p.Tyr194Ser) c.665A>C (p.Tyr222Ser) | |
11 | g.116790649A= | CA2002740673 | APOA5 | c.580T= (p.Tyr194=) c.664T= (p.Tyr222=) | |
11 | g.116790649A>C | CA382737995 | APOA5 | c.580T>G (p.Tyr194Asp) c.664T>G (p.Tyr222Asp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116790649A>G | CA6289047 | APOA5 | c.580T>C (p.Tyr194His) c.664T>C (p.Tyr222His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.116790649A>T | CA382737998 | APOA5 | c.580T>A (p.Tyr194Asn) c.664T>A (p.Tyr222Asn) | |
11 | g.116790650T>A | CA477047707 | APOA5 | c.579A>T (p.Pro193=) c.663A>T (p.Pro221=) | |
11 | g.116790650T>C | CA6289048 | APOA5 | c.579A>G (p.Pro193=) c.663A>G (p.Pro221=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790650T>G | CA477047709 | APOA5 | c.579A>C (p.Pro193=) c.663A>C (p.Pro221=) | |
11 | g.116790650T= | CA2002740676 | APOA5 | c.579A= (p.Pro193=) c.663A= (p.Pro221=) | |
11 | g.116790651G>A | CA6289049 | APOA5 | c.578C>T (p.Pro193Leu) c.662C>T (p.Pro221Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790651G>C | CA382738004 | APOA5 | c.578C>G (p.Pro193Arg) c.662C>G (p.Pro221Arg) | |
11 | g.116790651G= | CA2002740682 | APOA5 | c.578C= (p.Pro193=) c.662C= (p.Pro221=) | |
11 | g.116790651G>T | CA382738006 | APOA5 | c.578C>A (p.Pro193Gln) c.662C>A (p.Pro221Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.116790652G>A | CA382738009 | APOA5 | c.577C>T (p.Pro193Ser) c.661C>T (p.Pro221Ser) | |
11 | g.116790652G>C | CA382738011 | APOA5 | c.577C>G (p.Pro193Ala) c.661C>G (p.Pro221Ala) | |
11 | g.116790652G>T | CA382738013 | APOA5 | c.577C>A (p.Pro193Thr) c.661C>A (p.Pro221Thr) | gnomAD v4 |
11 | g.116790653G>A | CA477047716 | APOA5 | c.576C>T (p.His192=) c.660C>T (p.His220=) | ClinVar COSMIC |
11 | g.116790653G>C | CA382738015 | APOA5 | c.576C>G (p.His192Gln) c.660C>G (p.His220Gln) | |
11 | g.116790653G>T | CA382738017 | APOA5 | c.576C>A (p.His192Gln) c.660C>A (p.His220Gln) | |
11 | g.116790654T>A | CA382738019 | APOA5 | c.575A>T (p.His192Leu) c.659A>T (p.His220Leu) | |
11 | g.116790654T>C | CA382738024 | APOA5 | c.575A>G (p.His192Arg) c.659A>G (p.His220Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790654T>G | CA382738021 | APOA5 | c.575A>C (p.His192Pro) c.659A>C (p.His220Pro) | |
11 | g.116790654T= | CA2002740689 | APOA5 | c.575A= (p.His192=) c.659A= (p.His220=) | |
11 | g.116790655G>A | CA382738027 | APOA5 | c.574C>T (p.His192Tyr) c.658C>T (p.His220Tyr) | |
11 | g.116790655G>C | CA382738030 | APOA5 | c.574C>G (p.His192Asp) c.658C>G (p.His220Asp) | |
11 | g.116790655G>T | CA382738032 | APOA5 | c.574C>A (p.His192Asn) c.658C>A (p.His220Asn) | |
11 | g.116790656G>A | CA477047726 | APOA5 | c.573C>T (p.Phe191=) c.657C>T (p.Phe219=) | |
11 | g.116790656G>C | CA382738034 | APOA5 | c.573C>G (p.Phe191Leu) c.657C>G (p.Phe219Leu) | |
11 | g.116790656G>T | CA382738036 | APOA5 | c.573C>A (p.Phe191Leu) c.657C>A (p.Phe219Leu) | |
11 | g.116790657A>C | CA382738042 | APOA5 | c.572T>G (p.Phe191Cys) c.656T>G (p.Phe219Cys) | |
11 | g.116790657A>G | CA382738041 | APOA5 | c.572T>C (p.Phe191Ser) c.656T>C (p.Phe219Ser) | |
11 | g.116790657A>T | CA382738039 | APOA5 | c.572T>A (p.Phe191Tyr) c.656T>A (p.Phe219Tyr) | |
11 | g.116790658A= | CA2002740692 | APOA5 | c.571T= (p.Phe191=) c.655T= (p.Phe219=) | |
11 | g.116790658A>C | CA382738046 | APOA5 | c.571T>G (p.Phe191Val) c.655T>G (p.Phe219Val) | |
11 | g.116790658A>G | CA382738049 | APOA5 | c.571T>C (p.Phe191Leu) c.655T>C (p.Phe219Leu) | gnomAD v4 |
11 | g.116790658A>T | CA382738051 | APOA5 | c.571T>A (p.Phe191Ile) c.655T>A (p.Phe219Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.116790659G>A | CA477047736 | APOA5 | c.570C>T (p.Leu190=) c.654C>T (p.Leu218=) | |
11 | g.116790659G>C | CA477047741 | APOA5 | c.570C>G (p.Leu190=) c.654C>G (p.Leu218=) | |
11 | g.116790659G>T | CA477047742 | APOA5 | c.570C>A (p.Leu190=) c.654C>A (p.Leu218=) | |
11 | g.116790660A= | CA2002740695 | APOA5 | c.569T= (p.Leu190=) c.653T= (p.Leu218=) | |
11 | g.116790660A>C | CA382738053 | APOA5 | c.569T>G (p.Leu190Arg) c.653T>G (p.Leu218Arg) | |
11 | g.116790660A>G | CA6289050 | APOA5 | c.569T>C (p.Leu190Pro) c.653T>C (p.Leu218Pro) | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.116790660A>T | CA382738056 | APOA5 | c.569T>A (p.Leu190His) c.653T>A (p.Leu218His) | |
11 | g.116790661G>A | CA382738058 | APOA5 | c.568C>T (p.Leu190Phe) c.652C>T (p.Leu218Phe) | dbSNP |
11 | g.116790661G>C | CA382738062 | APOA5 | c.568C>G (p.Leu190Val) c.652C>G (p.Leu218Val) | |
11 | g.116790661G= | CA2002740698 | APOA5 | c.568C= (p.Leu190=) c.652C= (p.Leu218=) | |
11 | g.116790661G>T | CA382738060 | APOA5 | c.568C>A (p.Leu190Ile) c.652C>A (p.Leu218Ile) | gnomAD v4 |
11 | g.116790662C>A | CA382738064 | APOA5 | c.567G>T (p.Glu189Asp) c.651G>T (p.Glu217Asp) | |
11 | g.116790662C>G | CA382738066 | APOA5 | c.567G>C (p.Glu189Asp) c.651G>C (p.Glu217Asp) | |
11 | g.116790662C>T | CA477047750 | APOA5 | c.567G>A (p.Glu189=) c.651G>A (p.Glu217=) | |
11 | g.116790663T>A | CA382738068 | APOA5 | c.566A>T (p.Glu189Val) c.650A>T (p.Glu217Val) | |
11 | g.116790663T>C | CA382738069 | APOA5 | c.566A>G (p.Glu189Gly) c.650A>G (p.Glu217Gly) | |
11 | g.116790663T>G | CA382738071 | APOA5 | c.566A>C (p.Glu189Ala) c.650A>C (p.Glu217Ala) | |
11 | g.116790664C>A | CA382738074 | APOA5 | c.565G>T (p.Glu189Ter) c.649G>T (p.Glu217Ter) | |
11 | g.116790664C= | CA2002740701 | APOA5 | c.565G= (p.Glu189=) c.649G= (p.Glu217=) | |
11 | g.116790664C>G | CA382738077 | APOA5 | c.565G>C (p.Glu189Gln) c.649G>C (p.Glu217Gln) | dbSNP |
11 | g.116790664C>T | CA382738080 | APOA5 | c.565G>A (p.Glu189Lys) c.649G>A (p.Glu217Lys) | ClinVar |
11 | g.116790665T>A | CA382738084 | APOA5 | c.564A>T (p.Lys188Asn) c.648A>T (p.Lys216Asn) | |
11 | g.116790665T>C | CA477047762 | APOA5 | c.564A>G (p.Lys188=) c.648A>G (p.Lys216=) | gnomAD v4 |
11 | g.116790665T>G | CA382738086 | APOA5 | c.564A>C (p.Lys188Asn) c.648A>C (p.Lys216Asn) | |
11 | g.116790666T>A | CA382738093 | APOA5 | c.563A>T (p.Lys188Ile) c.647A>T (p.Lys216Ile) | |
11 | g.116790666T>C | CA382738091 | APOA5 | c.563A>G (p.Lys188Arg) c.647A>G (p.Lys216Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790666T>G | CA382738089 | APOA5 | c.563A>C (p.Lys188Thr) c.647A>C (p.Lys216Thr) | |
11 | g.116790666T= | CA2002740703 | APOA5 | c.563A= (p.Lys188=) c.647A= (p.Lys216=) | |
11 | g.116790667T>A | CA382738096 | APOA5 | c.562A>T (p.Lys188Ter) c.646A>T (p.Lys216Ter) | |
11 | g.116790667T>C | CA382738100 | APOA5 | c.562A>G (p.Lys188Glu) c.646A>G (p.Lys216Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116790667T>G | CA382738098 | APOA5 | c.562A>C (p.Lys188Gln) c.646A>C (p.Lys216Gln) | |
11 | g.116790667T= | CA2002740705 | APOA5 | c.562A= (p.Lys188=) c.646A= (p.Lys216=) | |
11 | g.116790668G>A | CA477047768 | APOA5 | c.561C>T (p.Phe187=) c.645C>T (p.Phe215=) | |
11 | g.116790668G>C | CA382738102 | APOA5 | c.561C>G (p.Phe187Leu) c.645C>G (p.Phe215Leu) | |
11 | g.116790668G>T | CA382738104 | APOA5 | c.561C>A (p.Phe187Leu) c.645C>A (p.Phe215Leu) | |
11 | g.116790669A>C | CA382738106 | APOA5 | c.560T>G (p.Phe187Cys) c.644T>G (p.Phe215Cys) | |
11 | g.116790669A>G | CA382738115 | APOA5 | c.560T>C (p.Phe187Ser) c.644T>C (p.Phe215Ser) | |
11 | g.116790669A>T | CA382738113 | APOA5 | c.560T>A (p.Phe187Tyr) c.644T>A (p.Phe215Tyr) | |
11 | g.116790670A>C | CA382738118 | APOA5 | c.559T>G (p.Phe187Val) c.643T>G (p.Phe215Val) | |
11 | g.116790670A>G | CA382738120 | APOA5 | c.559T>C (p.Phe187Leu) c.643T>C (p.Phe215Leu) | |
11 | g.116790670A>T | CA382738121 | APOA5 | c.559T>A (p.Phe187Ile) c.643T>A (p.Phe215Ile) | |
11 | g.116790671_116790687del | CA2574986397 | APOA5 | c.543_559del (p.His182GlnfsTer?) c.627_643del (p.His210GlnfsTer?) | |
11 | g.116790671G>A | CA477047772 | APOA5 | c.558C>T (p.Arg186=) c.642C>T (p.Arg214=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790671G>C | CA477047777 | APOA5 | c.558C>G (p.Arg186=) c.642C>G (p.Arg214=) | |
11 | g.116790671G= | CA2002740711 | APOA5 | c.558C= (p.Arg186=) c.642C= (p.Arg214=) | |
11 | g.116790671G>T | CA477047773 | APOA5 | c.558C>A (p.Arg186=) c.642C>A (p.Arg214=) | |
11 | g.116790672C>A | CA382738123 | APOA5 | c.557G>T (p.Arg186Leu) c.641G>T (p.Arg214Leu) | |
11 | g.116790672C= | CA2002740717 | APOA5 | c.557G= (p.Arg186=) c.641G= (p.Arg214=) | |
11 | g.116790672C>G | CA382738124 | APOA5 | c.557G>C (p.Arg186Pro) c.641G>C (p.Arg214Pro) | |
11 | g.116790672C>T | CA6289051 | APOA5 | c.557G>A (p.Arg186His) c.641G>A (p.Arg214His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.116790673G>A | CA382738128 | APOA5 | c.556C>T (p.Arg186Cys) c.640C>T (p.Arg214Cys) | gnomAD v4 |
11 | g.116790673G>C | CA382738129 | APOA5 | c.556C>G (p.Arg186Gly) c.640C>G (p.Arg214Gly) | dbSNP gnomAD v4 |
11 | g.116790673G= | CA2002740721 | APOA5 | c.556C= (p.Arg186=) c.640C= (p.Arg214=) | |
11 | g.116790673G>T | CA382738132 | APOA5 | c.556C>A (p.Arg186Ser) c.640C>A (p.Arg214Ser) | ClinVar dbSNP gnomAD v2 |
11 | g.116790674G>A | CA477047786 | APOA5 | c.555C>T (p.Gly185=) c.639C>T (p.Gly213=) | gnomAD v4 |
11 | g.116790674G>C | CA477047789 | APOA5 | c.555C>G (p.Gly185=) c.639C>G (p.Gly213=) | |
11 | g.116790674G>T | CA477047790 | APOA5 | c.555C>A (p.Gly185=) c.639C>A (p.Gly213=) | gnomAD v4 |
11 | g.116790675C>A | CA382738135 | APOA5 | c.554G>T (p.Gly185Val) c.638G>T (p.Gly213Val) | |
11 | g.116790675C= | CA2002740729 | APOA5 | c.554G= (p.Gly185=) c.638G= (p.Gly213=) | |
11 | g.116790675C>G | CA382738137 | APOA5 | c.554G>C (p.Gly185Ala) c.638G>C (p.Gly213Ala) | |
11 | g.116790675C>T | CA229337828 | APOA5 | c.554G>A (p.Gly185Asp) c.638G>A (p.Gly213Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790675_116790676delinsCC | CA2002740731 | APOA5 | c.553_554delinsGG (p.Gly185=) c.637_638delinsGG (p.Gly213=) | |
11 | g.116790676C>A | CA116843 | APOA5 | c.553G>T (p.Gly185Cys) c.637G>T (p.Gly213Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790676C= | CA2002740737 | APOA5 | c.553G= (p.Gly185=) c.637G= (p.Gly213=) | |
11 | g.116790676C>G | CA382738141 | APOA5 | c.553G>C (p.Gly185Arg) c.637G>C (p.Gly213Arg) | gnomAD v4 |
11 | g.116790676C>T | CA6289052 | APOA5 | c.553G>A (p.Gly185Ser) c.637G>A (p.Gly213Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.116790676delinsGT | CA918975684 | APOA5 | c.553delinsAC (p.Gly185ThrfsTer?) c.637delinsAC (p.Gly213ThrfsTer?) | dbSNP |
11 | g.116790677G>A | CA477047798 | APOA5 | c.552C>T (p.Thr184=) c.636C>T (p.Thr212=) | gnomAD v4 COSMIC |
11 | g.116790677G>C | CA477047800 | APOA5 | c.552C>G (p.Thr184=) c.636C>G (p.Thr212=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790677G= | CA2002740743 | APOA5 | c.552C= (p.Thr184=) c.636C= (p.Thr212=) | |
11 | g.116790677G>T | CA477047803 | APOA5 | c.552C>A (p.Thr184=) c.636C>A (p.Thr212=) | COSMIC |
11 | g.116790678G>A | CA382738145 | APOA5 | c.551C>T (p.Thr184Ile) c.635C>T (p.Thr212Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790678G>C | CA6289053 | APOA5 | c.551C>G (p.Thr184Ser) c.635C>G (p.Thr212Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790678G= | CA2002740747 | APOA5 | c.551C= (p.Thr184=) c.635C= (p.Thr212=) | |
11 | g.116790678G>T | CA382738149 | APOA5 | c.551C>A (p.Thr184Asn) c.635C>A (p.Thr212Asn) | gnomAD v4 COSMIC |
11 | g.116790679T>A | CA382738150 | APOA5 | c.550A>T (p.Thr184Ser) c.634A>T (p.Thr212Ser) | |
11 | g.116790679T>C | CA382738152 | APOA5 | c.550A>G (p.Thr184Ala) c.634A>G (p.Thr212Ala) | |
11 | g.116790679T>G | CA382738154 | APOA5 | c.550A>C (p.Thr184Pro) c.634A>C (p.Thr212Pro) | COSMIC |
11 | g.116790679dup | CA2741211929 | APOA5 | c.550dup (p.Thr184AsnfsTer?) c.634dup (p.Thr212AsnfsTer?) | |
11 | g.116790680G>A | CA477047808 | APOA5 | c.549C>T (p.His183=) c.633C>T (p.His211=) | |
11 | g.116790680G>C | CA382738157 | APOA5 | c.549C>G (p.His183Gln) c.633C>G (p.His211Gln) | |
11 | g.116790680G>T | CA382738159 | APOA5 | c.549C>A (p.His183Gln) c.633C>A (p.His211Gln) | |
11 | g.116790681T>A | CA6289054 | APOA5 | c.548A>T (p.His183Leu) c.632A>T (p.His211Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116790681T>C | CA382738163 | APOA5 | c.548A>G (p.His183Arg) c.632A>G (p.His211Arg) | |
11 | g.116790681T>G | CA382738165 | APOA5 | c.548A>C (p.His183Pro) c.632A>C (p.His211Pro) | |
11 | g.116790681T= | CA2002740751 | APOA5 | c.548A= (p.His183=) c.632A= (p.His211=) | |
11 | g.116790682G>A | CA382738172 | APOA5 | c.547C>T (p.His183Tyr) c.631C>T (p.His211Tyr) | |
11 | g.116790682G>C | CA229337848 | APOA5 | c.547C>G (p.His183Asp) c.631C>G (p.His211Asp) | dbSNP |
11 | g.116790682G= | CA2002740756 | APOA5 | c.547C= (p.His183=) c.631C= (p.His211=) | |
11 | g.116790682G>T | CA382738169 | APOA5 | c.547C>A (p.His183Asn) c.631C>A (p.His211Asn) | |
11 | g.116790683G>A | CA6289055 | APOA5 | c.546C>T (p.His182=) c.630C>T (p.His210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116790683G>C | CA382738176 | APOA5 | c.546C>G (p.His182Gln) c.630C>G (p.His210Gln) | |
11 | g.116790683G= | CA2002740758 | APOA5 | c.546C= (p.His182=) c.630C= (p.His210=) | |
11 | g.116790683G>T | CA382738178 | APOA5 | c.546C>A (p.His182Gln) c.630C>A (p.His210Gln) | |
11 | g.116790684T>A | CA382738181 | APOA5 | c.545A>T (p.His182Leu) c.629A>T (p.His210Leu) | |
11 | g.116790684T>C | CA382738183 | APOA5 | c.545A>G (p.His182Arg) c.629A>G (p.His210Arg) | |
11 | g.116790684T>G | CA382738186 | APOA5 | c.545A>C (p.His182Pro) c.629A>C (p.His210Pro) | gnomAD v4 |
11 | g.116790684T= | CA2002740762 | APOA5 | c.545A= (p.His182=) c.629A= (p.His210=) | |
11 | g.116790685G>A | CA382738192 | APOA5 | c.544C>T (p.His182Tyr) c.628C>T (p.His210Tyr) | gnomAD v4 |
11 | g.116790685G>C | CA382738191 | APOA5 | c.544C>G (p.His182Asp) c.628C>G (p.His210Asp) | |
11 | g.116790685G>T | CA382738189 | APOA5 | c.544C>A (p.His182Asn) c.628C>A (p.His210Asn) | gnomAD v4 |
11 | g.116790685_116790689dup | CA2002740764 | APOA5 | c.540_544dup (p.His182ArgfsTer20) c.624_628dup (p.His210ArgfsTer20) | dbSNP gnomAD v4 |
11 | g.116790686C>A | CA477047820 | APOA5 | c.543G>T (p.Val181=) c.627G>T (p.Val209=) | |
11 | g.116790686C>G | CA477047821 | APOA5 | c.543G>C (p.Val181=) c.627G>C (p.Val209=) | |
11 | g.116790686C>T | CA477047823 | APOA5 | c.543G>A (p.Val181=) c.627G>A (p.Val209=) | |
11 | g.116790687A= | CA2002740765 | APOA5 | c.542T= (p.Val181=) c.626T= (p.Val209=) | |
11 | g.116790687A>C | CA382738193 | APOA5 | c.542T>G (p.Val181Gly) c.626T>G (p.Val209Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116790687A>G | CA382738194 | APOA5 | c.542T>C (p.Val181Ala) c.626T>C (p.Val209Ala) | |
11 | g.116790687A>T | CA382738195 | APOA5 | c.542T>A (p.Val181Glu) c.626T>A (p.Val209Glu) | |
11 | g.116790688C>A | CA382738196 | APOA5 | c.541G>T (p.Val181Leu) c.625G>T (p.Val209Leu) | gnomAD v4 |
11 | g.116790688C>G | CA382738197 | APOA5 | c.541G>C (p.Val181Leu) c.625G>C (p.Val209Leu) | |
11 | g.116790688C>T | CA382738198 | APOA5 | c.541G>A (p.Val181Met) c.625G>A (p.Val209Met) | gnomAD v4 |
11 | g.116790689C>A | CA477047828 | APOA5 | c.540G>T (p.Val180=) c.624G>T (p.Val208=) | gnomAD v4 |
11 | g.116790689C>G | CA477047829 | APOA5 | c.540G>C (p.Val180=) c.624G>C (p.Val208=) | |
11 | g.116790689C>T | CA477047831 | APOA5 | c.540G>A (p.Val180=) c.624G>A (p.Val208=) | |
11 | g.116790690A= | CA2002740768 | APOA5 | c.539T= (p.Val180=) c.623T= (p.Val208=) | |
11 | g.116790690A>C | CA229337869 | APOA5 | c.539T>G (p.Val180Gly) c.623T>G (p.Val208Gly) | dbSNP |
11 | g.116790690A>G | CA382738199 | APOA5 | c.539T>C (p.Val180Ala) c.623T>C (p.Val208Ala) | |
11 | g.116790690A>T | CA229337863 | APOA5 | c.539T>A (p.Val180Glu) c.623T>A (p.Val208Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790691C>A | CA382738200 | APOA5 | c.538G>T (p.Val180Leu) c.622G>T (p.Val208Leu) | |
11 | g.116790691C= | CA2002740772 | APOA5 | c.538G= (p.Val180=) c.622G= (p.Val208=) | |
11 | g.116790691C>G | CA6289056 | APOA5 | c.538G>C (p.Val180Leu) c.622G>C (p.Val208Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.116790691C>T | CA382738201 | APOA5 | c.538G>A (p.Val180Met) c.622G>A (p.Val208Met) | COSMIC |
11 | g.116790692G>A | CA477047839 | APOA5 | c.537C>T (p.Arg179=) c.621C>T (p.Arg207=) | |
11 | g.116790692G>C | CA477047841 | APOA5 | c.537C>G (p.Arg179=) c.621C>G (p.Arg207=) | |
11 | g.116790692G>T | CA477047837 | APOA5 | c.537C>A (p.Arg179=) c.621C>A (p.Arg207=) | |
11 | g.116790693C>A | CA382738202 | APOA5 | c.536G>T (p.Arg179Leu) c.620G>T (p.Arg207Leu) | dbSNP gnomAD v4 |
11 | g.116790693C= | CA2002740775 | APOA5 | c.536G= (p.Arg179=) c.620G= (p.Arg207=) | |
11 | g.116790693C>G | CA382738203 | APOA5 | c.536G>C (p.Arg179Pro) c.620G>C (p.Arg207Pro) | gnomAD v4 |
11 | g.116790693C>T | CA382738204 | APOA5 | c.536G>A (p.Arg179His) c.620G>A (p.Arg207His) | COSMIC |
11 | g.116790694G>A | CA6289057 | APOA5 | c.535C>T (p.Arg179Cys) c.619C>T (p.Arg207Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116790694G>C | CA382738205 | APOA5 | c.535C>G (p.Arg179Gly) c.619C>G (p.Arg207Gly) | gnomAD v4 |
11 | g.116790694G= | CA2002740779 | APOA5 | c.535C= (p.Arg179=) c.619C= (p.Arg207=) | |
11 | g.116790694G>T | CA382738206 | APOA5 | c.535C>A (p.Arg179Ser) c.619C>A (p.Arg207Ser) | dbSNP gnomAD v4 |
11 | g.116790695G>A | CA6289058 | APOA5 | c.534C>T (p.Ser178=) c.618C>T (p.Ser206=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790695G>C | CA382738207 | APOA5 | c.534C>G (p.Ser178Arg) c.618C>G (p.Ser206Arg) | |
11 | g.116790695G= | CA2002740781 | APOA5 | c.534C= (p.Ser178=) c.618C= (p.Ser206=) | |
11 | g.116790695G>T | CA382738208 | APOA5 | c.534C>A (p.Ser178Arg) c.618C>A (p.Ser206Arg) | gnomAD v4 |
11 | g.116790696C>A | CA382738210 | APOA5 | c.533G>T (p.Ser178Ile) c.617G>T (p.Ser206Ile) | |
11 | g.116790696C= | CA2002740783 | APOA5 | c.533G= (p.Ser178=) c.617G= (p.Ser206=) | |
11 | g.116790696C>G | CA6289059 | APOA5 | c.533G>C (p.Ser178Thr) c.617G>C (p.Ser206Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116790696C>T | CA382738209 | APOA5 | c.533G>A (p.Ser178Asn) c.617G>A (p.Ser206Asn) | |
11 | g.116790697T>A | CA382738211 | APOA5 | c.532A>T (p.Ser178Cys) c.616A>T (p.Ser206Cys) | |
11 | g.116790697T>C | CA382738212 | APOA5 | c.532A>G (p.Ser178Gly) c.616A>G (p.Ser206Gly) | |
11 | g.116790697T>G | CA382738213 | APOA5 | c.532A>C (p.Ser178Arg) c.616A>C (p.Ser206Arg) | |
11 | g.116790698C>A | CA382738214 | APOA5 | c.531G>T (p.Gln177His) c.615G>T (p.Gln205His) | gnomAD v4 |
11 | g.116790698C= | CA2002740787 | APOA5 | c.531G= (p.Gln177=) c.615G= (p.Gln205=) | |
11 | g.116790698C>G | CA382738215 | APOA5 | c.531G>C (p.Gln177His) c.615G>C (p.Gln205His) | |
11 | g.116790698C>T | CA477047864 | APOA5 | c.531G>A (p.Gln177=) c.615G>A (p.Gln205=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790699T>A | CA382738216 | APOA5 | c.530A>T (p.Gln177Leu) c.614A>T (p.Gln205Leu) | |
11 | g.116790699T>C | CA382738217 | APOA5 | c.530A>G (p.Gln177Arg) c.614A>G (p.Gln205Arg) | |
11 | g.116790699T>G | CA382738218 | APOA5 | c.530A>C (p.Gln177Pro) c.614A>C (p.Gln205Pro) | |
11 | g.116790700G>A | CA382738219 | APOA5 | c.529C>T (p.Gln177Ter) c.613C>T (p.Gln205Ter) | gnomAD v4 |
11 | g.116790700G>C | CA382738220 | APOA5 | c.529C>G (p.Gln177Glu) c.613C>G (p.Gln205Glu) | |
11 | g.116790700G= | CA2002740789 | APOA5 | c.529C= (p.Gln177=) c.613C= (p.Gln205=) | |
11 | g.116790700G>T | CA6289060 | APOA5 | c.529C>A (p.Gln177Lys) c.613C>A (p.Gln205Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116790701C>A | CA477047872 | APOA5 | c.528G>T (p.Leu176=) c.612G>T (p.Leu204=) | |
11 | g.116790701C>G | CA477047874 | APOA5 | c.528G>C (p.Leu176=) c.612G>C (p.Leu204=) | |
11 | g.116790701C>T | CA477047875 | APOA5 | c.528G>A (p.Leu176=) c.612G>A (p.Leu204=) | gnomAD v4 |
11 | g.116790702A>C | CA382738221 | APOA5 | c.527T>G (p.Leu176Arg) c.611T>G (p.Leu204Arg) | |
11 | g.116790702A>G | CA382738222 | APOA5 | c.527T>C (p.Leu176Pro) c.611T>C (p.Leu204Pro) | |
11 | g.116790702A>T | CA382738223 | APOA5 | c.527T>A (p.Leu176Gln) c.611T>A (p.Leu204Gln) | |
11 | g.116790703G>A | CA477047878 | APOA5 | c.526C>T (p.Leu176=) c.610C>T (p.Leu204=) | gnomAD v4 |
11 | g.116790703G>C | CA382738224 | APOA5 | c.526C>G (p.Leu176Val) c.610C>G (p.Leu204Val) | |
11 | g.116790703G>T | CA382738225 | APOA5 | c.526C>A (p.Leu176Met) c.610C>A (p.Leu204Met) | |
11 | g.116790704T>A | CA477047881 | APOA5 | c.525A>T (p.Gly175=) c.609A>T (p.Gly203=) | |
11 | g.116790704T>C | CA477047882 | APOA5 | c.525A>G (p.Gly175=) c.609A>G (p.Gly203=) | |
11 | g.116790704T>G | CA477047883 | APOA5 | c.525A>C (p.Gly175=) c.609A>C (p.Gly203=) | gnomAD v4 |
11 | g.116790705C>A | CA382738226 | APOA5 | c.524G>T (p.Gly175Val) c.608G>T (p.Gly203Val) | |
11 | g.116790705C= | CA2002740790 | APOA5 | c.524G= (p.Gly175=) c.608G= (p.Gly203=) | |
11 | g.116790705C>G | CA6289061 | APOA5 | c.524G>C (p.Gly175Ala) c.608G>C (p.Gly203Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116790705C>T | CA382738227 | APOA5 | c.524G>A (p.Gly175Glu) c.608G>A (p.Gly203Glu) | |
11 | g.116790706C>A | CA382738228 | APOA5 | c.523G>T (p.Gly175Ter) c.607G>T (p.Gly203Ter) | |
11 | g.116790706C>G | CA382738229 | APOA5 | c.523G>C (p.Gly175Arg) c.607G>C (p.Gly203Arg) | |
11 | g.116790706C>T | CA382738230 | APOA5 | c.523G>A (p.Gly175Arg) c.607G>A (p.Gly203Arg) | gnomAD v4 |
11 | g.116790707C>A | CA382738231 | APOA5 | c.522G>T (p.Gln174His) c.606G>T (p.Gln202His) | |
11 | g.116790707C>G | CA382738232 | APOA5 | c.522G>C (p.Gln174His) c.606G>C (p.Gln202His) | |
11 | g.116790707C>T | CA477047889 | APOA5 | c.522G>A (p.Gln174=) c.606G>A (p.Gln202=) | |
11 | g.116790708T>A | CA382738233 | APOA5 | c.521A>T (p.Gln174Leu) c.605A>T (p.Gln202Leu) | |
11 | g.116790708T>C | CA6289062 | APOA5 | c.521A>G (p.Gln174Arg) c.605A>G (p.Gln202Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116790708T>G | CA382738234 | APOA5 | c.521A>C (p.Gln174Pro) c.605A>C (p.Gln202Pro) | dbSNP |
11 | g.116790708T= | CA2002740793 | APOA5 | c.521A= (p.Gln174=) c.605A= (p.Gln202=) | |
11 | g.116790709G>A | CA382738235 | APOA5 | c.520C>T (p.Gln174Ter) c.604C>T (p.Gln202Ter) | |
11 | g.116790709G>C | CA382738236 | APOA5 | c.520C>G (p.Gln174Glu) c.604C>G (p.Gln202Glu) | gnomAD v4 |
11 | g.116790709G>T | CA382738237 | APOA5 | c.520C>A (p.Gln174Lys) c.604C>A (p.Gln202Lys) | |
11 | g.116790710C>A | CA477047895 | APOA5 | c.519G>T (p.Leu173=) c.603G>T (p.Leu201=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790710C= | CA2002740800 | APOA5 | c.519G= (p.Leu173=) c.603G= (p.Leu201=) | |
11 | g.116790710C>G | CA477047896 | APOA5 | c.519G>C (p.Leu173=) c.603G>C (p.Leu201=) | |
11 | g.116790710C>T | CA6289063 | APOA5 | c.519G>A (p.Leu173=) c.603G>A (p.Leu201=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116790711A= | CA2002740802 | APOA5 | c.518T= (p.Leu173=) c.602T= (p.Leu201=) | |
11 | g.116790711A>C | CA382738238 | APOA5 | c.518T>G (p.Leu173Arg) c.602T>G (p.Leu201Arg) | dbSNP gnomAD v4 |
11 | g.116790711A>G | CA6289064 | APOA5 | c.518T>C (p.Leu173Pro) c.602T>C (p.Leu201Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116790711A>T | CA382738239 | APOA5 | c.518T>A (p.Leu173Gln) c.602T>A (p.Leu201Gln) | |
11 | g.116790712G>A | CA477047898 | APOA5 | c.517C>T (p.Leu173=) c.601C>T (p.Leu201=) | |
11 | g.116790712G>C | CA382738240 | APOA5 | c.517C>G (p.Leu173Val) c.601C>G (p.Leu201Val) | |
11 | g.116790712G>T | CA382738241 | APOA5 | c.517C>A (p.Leu173Met) c.601C>A (p.Leu201Met) | gnomAD v4 |
11 | g.116790713C>A | CA382738242 | APOA5 | c.516G>T (p.Leu172Phe) c.600G>T (p.Leu200Phe) | |
11 | g.116790713C>G | CA382738243 | APOA5 | c.516G>C (p.Leu172Phe) c.600G>C (p.Leu200Phe) | |
11 | g.116790713C>T | CA477047904 | APOA5 | c.516G>A (p.Leu172=) c.600G>A (p.Leu200=) | |
11 | g.116790714A>C | CA382738244 | APOA5 | c.515T>G (p.Leu172Trp) c.599T>G (p.Leu200Trp) | |
11 | g.116790714A>G | CA382738245 | APOA5 | c.515T>C (p.Leu172Ser) c.599T>C (p.Leu200Ser) | |
11 | g.116790714A>T | CA382738248 | APOA5 | c.515T>A (p.Leu172Ter) c.599T>A (p.Leu200Ter) | |
11 | g.116790715A>C | CA382738249 | APOA5 | c.514T>G (p.Leu172Val) c.598T>G (p.Leu200Val) | |
11 | g.116790715A>G | CA477047909 | APOA5 | c.514T>C (p.Leu172=) c.598T>C (p.Leu200=) | |
11 | g.116790715A>T | CA382738250 | APOA5 | c.514T>A (p.Leu172Met) c.598T>A (p.Leu200Met) | |
11 | g.116790720_116790725del | CA2697558959 | APOA5 | c.509_514del (p.Trp170_Ala171del) c.593_598del (p.Trp198_Ala199del) | ClinVar |
11 | g.116790716A>C | CA477047910 | APOA5 | c.513T>G (p.Ala171=) c.597T>G (p.Ala199=) | |
11 | g.116790716A>G | CA477047912 | APOA5 | c.513T>C (p.Ala171=) c.597T>C (p.Ala199=) | |
11 | g.116790716A>T | CA477047913 | APOA5 | c.513T>A (p.Ala171=) c.597T>A (p.Ala199=) | |
11 | g.116790717G>A | CA382738251 | APOA5 | c.512C>T (p.Ala171Val) c.596C>T (p.Ala199Val) | COSMIC |
11 | g.116790717G>C | CA382738252 | APOA5 | c.512C>G (p.Ala171Gly) c.596C>G (p.Ala199Gly) | |
11 | g.116790717G>T | CA382738253 | APOA5 | c.512C>A (p.Ala171Asp) c.596C>A (p.Ala199Asp) | gnomAD v4 COSMIC |
11 | g.116790718C>A | CA382738255 | APOA5 | c.511G>T (p.Ala171Ser) c.595G>T (p.Ala199Ser) | |
11 | g.116790718C= | CA2002740806 | APOA5 | c.511G= (p.Ala171=) c.595G= (p.Ala199=) | |
11 | g.116790718C>G | CA382738254 | APOA5 | c.511G>C (p.Ala171Pro) c.595G>C (p.Ala199Pro) | |
11 | g.116790718C>T | CA6289065 | APOA5 | c.511G>A (p.Ala171Thr) c.595G>A (p.Ala199Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116790719C>A | CA382738256 | APOA5 | c.510G>T (p.Trp170Cys) c.594G>T (p.Trp198Cys) | |
11 | g.116790719C>G | CA382738257 | APOA5 | c.510G>C (p.Trp170Cys) c.594G>C (p.Trp198Cys) | |
11 | g.116790719C>T | CA382738258 | APOA5 | c.510G>A (p.Trp170Ter) c.594G>A (p.Trp198Ter) | |
11 | g.116790720C>A | CA382738259 | APOA5 | c.509G>T (p.Trp170Leu) c.593G>T (p.Trp198Leu) | |
11 | g.116790720C>G | CA382738260 | APOA5 | c.509G>C (p.Trp170Ser) c.593G>C (p.Trp198Ser) | |
11 | g.116790720C>T | CA382738261 | APOA5 | c.509G>A (p.Trp170Ter) c.593G>A (p.Trp198Ter) |