Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89792156T>A | CA619544082 | ANPEP | c.2528+4A>T (n.2528+4A>T) n.432+4A>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89792156T= | CA2194794589 | ANPEP | c.2528+4A= (n.2528+4A=) n.432+4A= | |
15 | g.89792157C= | CA2194794592 | ANPEP | c.2528+3G= (n.2528+3G=) n.432+3G= | |
15 | g.89792157C>T | CA2194794593 | ANPEP | c.2528+3G>A (n.2528+3G>A) n.432+3G>A | dbSNP |
15 | g.89792158A>C | CA393782770 | ANPEP | c.2528+2T>G (n.2528+2T>G) n.432+2T>G | |
15 | g.89792158A>G | CA393782772 | ANPEP | c.2528+2T>C (n.2528+2T>C) n.432+2T>C | |
15 | g.89792158A>T | CA393782774 | ANPEP | c.2528+2T>A (n.2528+2T>A) n.432+2T>A | |
15 | g.89792159C>A | CA393782777 | ANPEP | c.2528+1G>T (n.2528+1G>T) n.432+1G>T | |
15 | g.89792159C>G | CA393782776 | ANPEP | c.2528+1G>C (n.2528+1G>C) n.432+1G>C | |
15 | g.89792159C>T | CA393782775 | ANPEP | c.2528+1G>A (n.2528+1G>A) n.432+1G>A | |
15 | g.89792160C>A | CA393782780 | ANPEP | c.2528G>T (p.Arg843Met) n.432G>T | |
15 | g.89792160C= | CA2194794596 | ANPEP | c.2528G= (p.Arg843=) n.432G= | |
15 | g.89792160C>G | CA393782779 | ANPEP | c.2528G>C (p.Arg843Thr) n.432G>C | gnomAD v4 |
15 | g.89792160C>T | CA274604555 | ANPEP | c.2528G>A (p.Arg843Lys) n.432G>A | dbSNP |
15 | g.89792161T>A | CA393782782 | ANPEP | c.2527A>T (p.Arg843Trp) n.431A>T | |
15 | g.89792161T>C | CA393782783 | ANPEP | c.2527A>G (p.Arg843Gly) n.431A>G | gnomAD v4 |
15 | g.89792161T>G | CA492105038 | ANPEP | c.2527A>C (p.Arg843=) n.431A>C | dbSNP gnomAD v4 |
15 | g.89792161T= | CA2194794598 | ANPEP | c.2527A= (p.Arg843=) n.431A= | |
15 | g.89792162G>A | CA7730784 | ANPEP | c.2526C>T (p.Asn842=) n.430C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89792162G>C | CA393782785 | ANPEP | c.2526C>G (p.Asn842Lys) n.430C>G | |
15 | g.89792162G= | CA2194794601 | ANPEP | c.2526C= (p.Asn842=) n.430C= | |
15 | g.89792162G>T | CA393782786 | ANPEP | c.2526C>A (p.Asn842Lys) n.430C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89792163T>A | CA393782793 | ANPEP | c.2525A>T (p.Asn842Ile) n.429A>T | |
15 | g.89792163T>C | CA393782796 | ANPEP | c.2525A>G (p.Asn842Ser) n.429A>G | |
15 | g.89792163T>G | CA393782797 | ANPEP | c.2525A>C (p.Asn842Thr) n.429A>C | |
15 | g.89792164T>A | CA393782798 | ANPEP | c.2524A>T (p.Asn842Tyr) n.428A>T | |
15 | g.89792164T>C | CA393782799 | ANPEP | c.2524A>G (p.Asn842Asp) n.428A>G | gnomAD v4 |
15 | g.89792164T>G | CA393782800 | ANPEP | c.2524A>C (p.Asn842His) n.428A>C | |
15 | g.89792165C>A | CA492105040 | ANPEP | c.2523G>T (p.Leu841=) n.427G>T | |
15 | g.89792165C>G | CA492105041 | ANPEP | c.2523G>C (p.Leu841=) n.427G>C | |
15 | g.89792165C>T | CA492105043 | ANPEP | c.2523G>A (p.Leu841=) n.427G>A | |
15 | g.89792166A>C | CA393782805 | ANPEP | c.2522T>G (p.Leu841Arg) n.426T>G | |
15 | g.89792166A>G | CA393782804 | ANPEP | c.2522T>C (p.Leu841Pro) n.426T>C | |
15 | g.89792166A>T | CA393782802 | ANPEP | c.2522T>A (p.Leu841Gln) n.426T>A | |
15 | g.89792167G>A | CA492105044 | ANPEP | c.2521C>T (p.Leu841=) n.425C>T | |
15 | g.89792167G>C | CA393782806 | ANPEP | c.2521C>G (p.Leu841Val) n.425C>G | |
15 | g.89792167G= | CA2194794603 | ANPEP | c.2521C= (p.Leu841=) n.425C= | |
15 | g.89792167G>T | CA393782808 | ANPEP | c.2521C>A (p.Leu841Met) n.425C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89792168G>A | CA492105045 | ANPEP | c.2520C>T (p.Ile840=) n.424C>T | dbSNP gnomAD v4 COSMIC |
15 | g.89792168G>C | CA7730785 | ANPEP | c.2520C>G (p.Ile840Met) n.424C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89792168G= | CA2194794606 | ANPEP | c.2520C= (p.Ile840=) n.424C= | |
15 | g.89792168G>T | CA492105047 | ANPEP | c.2520C>A (p.Ile840=) n.424C>A | |
15 | g.89792169A>C | CA393782809 | ANPEP | c.2519T>G (p.Ile840Ser) n.423T>G | |
15 | g.89792169A>G | CA393782810 | ANPEP | c.2519T>C (p.Ile840Thr) n.423T>C | |
15 | g.89792169A>T | CA393782812 | ANPEP | c.2519T>A (p.Ile840Asn) n.423T>A | |
15 | g.89792170T>A | CA393782816 | ANPEP | c.2518A>T (p.Ile840Phe) n.422A>T | |
15 | g.89792170T>C | CA393782817 | ANPEP | c.2518A>G (p.Ile840Val) n.422A>G | dbSNP gnomAD v4 |
15 | g.89792170T>G | CA393782819 | ANPEP | c.2518A>C (p.Ile840Leu) n.422A>C | |
15 | g.89792170T= | CA2194794612 | ANPEP | c.2518A= (p.Ile840=) n.422A= | |
15 | g.89792171C>A | CA393782823 | ANPEP | c.2517G>T (p.Trp839Cys) n.421G>T | |
15 | g.89792171C>G | CA393782825 | ANPEP | c.2517G>C (p.Trp839Cys) n.421G>C | |
15 | g.89792171C>T | CA393782830 | ANPEP | c.2517G>A (p.Trp839Ter) n.421G>A | gnomAD v4 |
15 | g.89792172C>A | CA393782832 | ANPEP | c.2516G>T (p.Trp839Leu) n.420G>T | |
15 | g.89792172C>G | CA393782833 | ANPEP | c.2516G>C (p.Trp839Ser) n.420G>C | |
15 | g.89792172C>T | CA393782831 | ANPEP | c.2516G>A (p.Trp839Ter) n.420G>A | |
15 | g.89792173A>C | CA393782835 | ANPEP | c.2515T>G (p.Trp839Gly) n.419T>G | |
15 | g.89792173A>G | CA393782836 | ANPEP | c.2515T>C (p.Trp839Arg) n.419T>C | gnomAD v4 |
15 | g.89792173A>T | CA393782838 | ANPEP | c.2515T>A (p.Trp839Arg) n.419T>A | |
15 | g.89792174C>A | CA393782840 | ANPEP | c.2514G>T (p.Leu838Phe) n.418G>T | |
15 | g.89792174C= | CA2194794616 | ANPEP | c.2514G= (p.Leu838=) n.418G= | |
15 | g.89792174C>G | CA393782842 | ANPEP | c.2514G>C (p.Leu838Phe) n.418G>C | |
15 | g.89792174C>T | CA7730786 | ANPEP | c.2514G>A (p.Leu838=) n.418G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89792175A>C | CA393782843 | ANPEP | c.2513T>G (p.Leu838Trp) n.417T>G | |
15 | g.89792175A>G | CA393782845 | ANPEP | c.2513T>C (p.Leu838Ser) n.417T>C | |
15 | g.89792175A>T | CA393782846 | ANPEP | c.2513T>A (p.Leu838Ter) n.417T>A | |
15 | g.89792176A= | CA2194794619 | ANPEP | c.2512T= (p.Leu838=) n.416T= | |
15 | g.89792176A>C | CA393782847 | ANPEP | c.2512T>G (p.Leu838Val) n.416T>G | |
15 | g.89792176A>G | CA492105051 | ANPEP | c.2512T>C (p.Leu838=) n.416T>C | |
15 | g.89792176A>T | CA393782850 | ANPEP | c.2512T>A (p.Leu838Met) n.416T>A | dbSNP |
15 | g.89792177C>A | CA393782851 | ANPEP | c.2511G>T (p.Glu837Asp) n.415G>T | |
15 | g.89792177C>G | CA393782853 | ANPEP | c.2511G>C (p.Glu837Asp) n.415G>C | gnomAD v4 |
15 | g.89792177C>T | CA492105053 | ANPEP | c.2511G>A (p.Glu837=) n.415G>A | |
15 | g.89792178T>A | CA393782856 | ANPEP | c.2510A>T (p.Glu837Val) n.414A>T | |
15 | g.89792178T>C | CA393782855 | ANPEP | c.2510A>G (p.Glu837Gly) n.414A>G | |
15 | g.89792178T>G | CA393782854 | ANPEP | c.2510A>C (p.Glu837Ala) n.414A>C | |
15 | g.89792179C>A | CA393782860 | ANPEP | c.2509G>T (p.Glu837Ter) n.413G>T | |
15 | g.89792179C= | CA2194794623 | ANPEP | c.2509G= (p.Glu837=) n.413G= | |
15 | g.89792179C>G | CA393782861 | ANPEP | c.2509G>C (p.Glu837Gln) n.413G>C | |
15 | g.89792179C>T | CA7730787 | ANPEP | c.2509G>A (p.Glu837Lys) n.413G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89792179_89792181delinsCTT | CA2194794622 | ANPEP | c.2507_2509delinsAAG (p.Lys836=) n.411_413delinsAAG | |
15 | g.89792180T>A | CA393782864 | ANPEP | c.2508A>T (p.Lys836Asn) n.412A>T | |
15 | g.89792180T>C | CA492105058 | ANPEP | c.2508A>G (p.Lys836=) n.412A>G | |
15 | g.89792180T>G | CA393782865 | ANPEP | c.2508A>C (p.Lys836Asn) n.412A>C | |
15 | g.89792182dup | CA492105057 | ANPEP | c.2508dup (p.Glu837ArgfsTer?) n.412dup | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89792181_89792182del | CA619544083 | ANPEP | c.2507_2508del (p.Lys836ArgfsTer?) n.411_412del | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89792181T>A | CA393782867 | ANPEP | c.2507A>T (p.Lys836Ile) n.411A>T | |
15 | g.89792181T>C | CA393782869 | ANPEP | c.2507A>G (p.Lys836Arg) n.411A>G | |
15 | g.89792181T>G | CA393782871 | ANPEP | c.2507A>C (p.Lys836Thr) n.411A>C | |
15 | g.89792182T>A | CA393782872 | ANPEP | c.2506A>T (p.Lys836Ter) n.410A>T | |
15 | g.89792182T>C | CA393782874 | ANPEP | c.2506A>G (p.Lys836Glu) n.410A>G | gnomAD v4 |
15 | g.89792182T>G | CA393782875 | ANPEP | c.2506A>C (p.Lys836Gln) n.410A>C | |
15 | g.89792183G>A | CA492105061 | ANPEP | c.2505C>T (p.Ser835=) n.409C>T | |
15 | g.89792183G>C | CA393782877 | ANPEP | c.2505C>G (p.Ser835Arg) n.409C>G | |
15 | g.89792183G>T | CA393782879 | ANPEP | c.2505C>A (p.Ser835Arg) n.409C>A | |
15 | g.89792184C>A | CA393782881 | ANPEP | c.2504G>T (p.Ser835Ile) n.408G>T | |
15 | g.89792184C>G | CA393782883 | ANPEP | c.2504G>C (p.Ser835Thr) n.408G>C | |
15 | g.89792184C>T | CA393782880 | ANPEP | c.2504G>A (p.Ser835Asn) n.408G>A | |
15 | g.89792185T>A | CA393782886 | ANPEP | c.2503A>T (p.Ser835Cys) n.407A>T | |
15 | g.89792185T>C | CA393782891 | ANPEP | c.2503A>G (p.Ser835Gly) n.407A>G | |
15 | g.89792185T>G | CA393782889 | ANPEP | c.2503A>C (p.Ser835Arg) n.407A>C | |
15 | g.89792186G>A | CA492105063 | ANPEP | c.2502C>T (p.Cys834=) n.406C>T | |
15 | g.89792186G>C | CA393782892 | ANPEP | c.2502C>G (p.Cys834Trp) n.406C>G | |
15 | g.89792186G>T | CA393782893 | ANPEP | c.2502C>A (p.Cys834Ter) n.406C>A | |
15 | g.89792187C>A | CA393782895 | ANPEP | c.2501G>T (p.Cys834Phe) n.405G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89792187C= | CA2194794632 | ANPEP | c.2501G= (p.Cys834=) n.405G= | |
15 | g.89792187C>G | CA393782897 | ANPEP | c.2501G>C (p.Cys834Ser) n.405G>C | |
15 | g.89792187C>T | CA393782899 | ANPEP | c.2501G>A (p.Cys834Tyr) n.405G>A | |
15 | g.89792188A>C | CA393782903 | ANPEP | c.2500T>G (p.Cys834Gly) n.404T>G | |
15 | g.89792188A>G | CA393782902 | ANPEP | c.2500T>C (p.Cys834Arg) n.404T>C | |
15 | g.89792188A>T | CA393782901 | ANPEP | c.2500T>A (p.Cys834Ser) n.404T>A | |
15 | g.89792189G>A | CA492105065 | ANPEP | c.2499C>T (p.Ala833=) n.403C>T | |
15 | g.89792189G>C | CA492105066 | ANPEP | c.2499C>G (p.Ala833=) n.403C>G | |
15 | g.89792189G>T | CA492105067 | ANPEP | c.2499C>A (p.Ala833=) n.403C>A | |
15 | g.89792190G>A | CA393782905 | ANPEP | c.2498C>T (p.Ala833Val) n.402C>T | |
15 | g.89792190G>C | CA393782906 | ANPEP | c.2498C>G (p.Ala833Gly) n.402C>G | |
15 | g.89792190G>T | CA393782908 | ANPEP | c.2498C>A (p.Ala833Asp) n.402C>A | |
15 | g.89792191C>A | CA393782910 | ANPEP | c.2497G>T (p.Ala833Ser) n.401G>T | gnomAD v4 |
15 | g.89792191C>G | CA393782911 | ANPEP | c.2497G>C (p.Ala833Pro) n.401G>C | |
15 | g.89792191C>T | CA393782913 | ANPEP | c.2497G>A (p.Ala833Thr) n.401G>A | gnomAD v4 |
15 | g.89792192C>A | CA492105072 | ANPEP | c.2496G>T (p.Leu832=) n.400G>T | |
15 | g.89792192C= | CA2194794636 | ANPEP | c.2496G= (p.Leu832=) n.400G= | |
15 | g.89792192C>G | CA492105073 | ANPEP | c.2496G>C (p.Leu832=) n.400G>C | |
15 | g.89792192C>T | CA492105074 | ANPEP | c.2496G>A (p.Leu832=) n.400G>A | dbSNP gnomAD v4 |
15 | g.89792193A>C | CA393782919 | ANPEP | c.2495T>G (p.Leu832Arg) n.399T>G | |
15 | g.89792193A>G | CA393782915 | ANPEP | c.2495T>C (p.Leu832Pro) n.399T>C | |
15 | g.89792193A>T | CA393782917 | ANPEP | c.2495T>A (p.Leu832Gln) n.399T>A | |
15 | g.89792194G>A | CA7730788 | ANPEP | c.2494C>T (p.Leu832=) n.398C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89792194G>C | CA393782921 | ANPEP | c.2494C>G (p.Leu832Val) n.398C>G | |
15 | g.89792194G= | CA2194794640 | ANPEP | c.2494C= (p.Leu832=) n.398C= | |
15 | g.89792194G>T | CA393782923 | ANPEP | c.2494C>A (p.Leu832Met) n.398C>A | |
15 | g.89792195G>A | CA492105075 | ANPEP | c.2493C>T (p.Ala831=) n.397C>T | |
15 | g.89792195G>C | CA492105076 | ANPEP | c.2493C>G (p.Ala831=) n.397C>G | |
15 | g.89792195G>T | CA492105078 | ANPEP | c.2493C>A (p.Ala831=) n.397C>A | |
15 | g.89792196G>A | CA393782925 | ANPEP | c.2492C>T (p.Ala831Val) n.396C>T | |
15 | g.89792196G>C | CA393782927 | ANPEP | c.2492C>G (p.Ala831Gly) n.396C>G | |
15 | g.89792196G>T | CA393782928 | ANPEP | c.2492C>A (p.Ala831Asp) n.396C>A | |
15 | g.89792197C>A | CA393782930 | ANPEP | c.2491G>T (p.Ala831Ser) n.395G>T | |
15 | g.89792197C>G | CA393782932 | ANPEP | c.2491G>C (p.Ala831Pro) n.395G>C | |
15 | g.89792197C>T | CA393782933 | ANPEP | c.2491G>A (p.Ala831Thr) n.395G>A | |
15 | g.89792198T>A | CA492105082 | ANPEP | c.2490A>T (p.Ala830=) n.394A>T | |
15 | g.89792198T>C | CA492105084 | ANPEP | c.2490A>G (p.Ala830=) n.394A>G | |
15 | g.89792198T>G | CA492105085 | ANPEP | c.2490A>C (p.Ala830=) n.394A>C | gnomAD v4 COSMIC |
15 | g.89792199G>A | CA393782935 | ANPEP | c.2489C>T (p.Ala830Val) n.393C>T | |
15 | g.89792199G>C | CA393782937 | ANPEP | c.2489C>G (p.Ala830Gly) n.393C>G | |
15 | g.89792199G>T | CA393782939 | ANPEP | c.2489C>A (p.Ala830Glu) n.393C>A | |
15 | g.89792200C>A | CA393782941 | ANPEP | c.2488G>T (p.Ala830Ser) n.392G>T | |
15 | g.89792200C= | CA2194794645 | ANPEP | c.2488G= (p.Ala830=) n.392G= | |
15 | g.89792200C>G | CA393782945 | ANPEP | c.2488G>C (p.Ala830Pro) n.392G>C | dbSNP gnomAD v2 |
15 | g.89792200C>T | CA393782943 | ANPEP | c.2488G>A (p.Ala830Thr) n.392G>A | |
15 | g.89792201C>A | CA492105087 | ANPEP | c.2487G>T (p.Arg829=) n.391G>T | dbSNP |
15 | g.89792201C= | CA2194794648 | ANPEP | c.2487G= (p.Arg829=) n.391G= | |
15 | g.89792201C>G | CA492105088 | ANPEP | c.2487G>C (p.Arg829=) n.391G>C | gnomAD v4 |
15 | g.89792201C>T | CA492105089 | ANPEP | c.2487G>A (p.Arg829=) n.391G>A | dbSNP |
15 | g.89792202C>A | CA393782946 | ANPEP | c.2486G>T (p.Arg829Leu) n.390G>T | dbSNP gnomAD v2 |
15 | g.89792202C= | CA2194794652 | ANPEP | c.2486G= (p.Arg829=) n.390G= | |
15 | g.89792202C>G | CA393782947 | ANPEP | c.2486G>C (p.Arg829Pro) n.390G>C | dbSNP gnomAD v4 |
15 | g.89792202C>T | CA7730789 | ANPEP | c.2486G>A (p.Arg829Gln) n.390G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89792203_89792204insCTCG | CA2630295614 | ANPEP | c.2486_2487insAGCG (p.Ala831GlyfsTer?) n.390_391insAGCG | gnomAD v4 |
15 | g.89792203G>A | CA7730790 | ANPEP | c.2485C>T (p.Arg829Trp) n.389C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89792203G>C | CA393782948 | ANPEP | c.2485C>G (p.Arg829Gly) n.389C>G | |
15 | g.89792203G= | CA2194794656 | ANPEP | c.2485C= (p.Arg829=) n.389C= | |
15 | g.89792203G>T | CA492105092 | ANPEP | c.2485C>A (p.Arg829=) n.389C>A | |
15 | g.89792204G>A | CA7730791 | ANPEP | c.2484C>T (p.Leu828=) n.388C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89792204G>C | CA492105095 | ANPEP | c.2484C>G (p.Leu828=) n.388C>G | |
15 | g.89792204G= | CA2194794659 | ANPEP | c.2484C= (p.Leu828=) n.388C= | |
15 | g.89792204G>T | CA492105096 | ANPEP | c.2484C>A (p.Leu828=) n.388C>A | |
15 | g.89792205A>C | CA393782951 | ANPEP | c.2483T>G (p.Leu828Arg) n.387T>G | |
15 | g.89792205A>G | CA393782952 | ANPEP | c.2483T>C (p.Leu828Pro) n.387T>C | gnomAD v4 |
15 | g.89792205A>T | CA393782954 | ANPEP | c.2483T>A (p.Leu828His) n.387T>A | |
15 | g.89792206G>A | CA393782956 | ANPEP | c.2482C>T (p.Leu828Phe) n.386C>T | dbSNP gnomAD v2 |
15 | g.89792206G>C | CA7730792 | ANPEP | c.2482C>G (p.Leu828Val) n.386C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89792206G= | CA2194794664 | ANPEP | c.2482C= (p.Leu828=) n.386C= | |
15 | g.89792206G>T | CA393782957 | ANPEP | c.2482C>A (p.Leu828Ile) n.386C>A | |
15 | g.89792207C>A | CA393782961 | ANPEP | c.2481G>T (p.Lys827Asn) n.385G>T | |
15 | g.89792207C>G | CA393782960 | ANPEP | c.2481G>C (p.Lys827Asn) n.385G>C | |
15 | g.89792207C>T | CA492105098 | ANPEP | c.2481G>A (p.Lys827=) n.385G>A | |
15 | g.89792208T>A | CA393782963 | ANPEP | c.2480A>T (p.Lys827Met) n.384A>T | |
15 | g.89792208T>C | CA393782965 | ANPEP | c.2480A>G (p.Lys827Arg) n.384A>G | |
15 | g.89792208T>G | CA393782967 | ANPEP | c.2480A>C (p.Lys827Thr) n.384A>C | |
15 | g.89792209T>A | CA393782968 | ANPEP | c.2479A>T (p.Lys827Ter) n.383A>T | |
15 | g.89792209T>C | CA393782970 | ANPEP | c.2479A>G (p.Lys827Glu) n.383A>G | |
15 | g.89792209T>G | CA393782971 | ANPEP | c.2479A>C (p.Lys827Gln) n.383A>C | |
15 | g.89792210G>A | CA492105099 | ANPEP | c.2478C>T (p.Asp826=) n.382C>T | |
15 | g.89792210G>C | CA274604586 | ANPEP | c.2478C>G (p.Asp826Glu) n.382C>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89792210G= | CA2194794666 | ANPEP | c.2478C= (p.Asp826=) n.382C= | |
15 | g.89792210G>T | CA393782975 | ANPEP | c.2478C>A (p.Asp826Glu) n.382C>A | |
15 | g.89792211T>A | CA393782977 | ANPEP | c.2477A>T (p.Asp826Val) n.381A>T | |
15 | g.89792211T>C | CA393782978 | ANPEP | c.2477A>G (p.Asp826Gly) n.381A>G | |
15 | g.89792211T>G | CA393782981 | ANPEP | c.2477A>C (p.Asp826Ala) n.381A>C | |
15 | g.89792212C>A | CA393782985 | ANPEP | c.2476G>T (p.Asp826Tyr) n.380G>T | |
15 | g.89792212C= | CA2194794668 | ANPEP | c.2476G= (p.Asp826=) n.380G= | |
15 | g.89792212C>G | CA393782984 | ANPEP | c.2476G>C (p.Asp826His) n.380G>C | |
15 | g.89792212C>T | CA393782982 | ANPEP | c.2476G>A (p.Asp826Asn) n.380G>A | dbSNP |
15 | g.89792213A>C | CA492105101 | ANPEP | c.2475T>G (p.Ala825=) n.379T>G | |
15 | g.89792213A>G | CA492105102 | ANPEP | c.2475T>C (p.Ala825=) n.379T>C | |
15 | g.89792213A>T | CA492105103 | ANPEP | c.2475T>A (p.Ala825=) n.379T>A | |
15 | g.89792214G>A | CA393782988 | ANPEP | c.2474C>T (p.Ala825Val) n.378C>T | |
15 | g.89792214G>C | CA393782991 | ANPEP | c.2474C>G (p.Ala825Gly) n.378C>G | |
15 | g.89792214G>T | CA393782989 | ANPEP | c.2474C>A (p.Ala825Asp) n.378C>A | |
15 | g.89792215C>A | CA393782993 | ANPEP | c.2473G>T (p.Ala825Ser) n.377G>T | |
15 | g.89792215C>G | CA393782995 | ANPEP | c.2473G>C (p.Ala825Pro) n.377G>C | |
15 | g.89792215C>T | CA393782996 | ANPEP | c.2473G>A (p.Ala825Thr) n.377G>A | |
15 | g.89792216C>A | CA393782999 | ANPEP | c.2472G>T (p.Glu824Asp) n.376G>T | |
15 | g.89792216C= | CA2194794673 | ANPEP | c.2472G= (p.Glu824=) n.376G= | |
15 | g.89792216C>G | CA393783000 | ANPEP | c.2472G>C (p.Glu824Asp) n.376G>C | |
15 | g.89792216C>T | CA7730793 | ANPEP | c.2472G>A (p.Glu824=) n.376G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89792217T>A | CA393783003 | ANPEP | c.2471A>T (p.Glu824Val) n.375A>T | |
15 | g.89792217T>C | CA393783004 | ANPEP | c.2471A>G (p.Glu824Gly) n.375A>G | |
15 | g.89792217T>G | CA393783006 | ANPEP | c.2471A>C (p.Glu824Ala) n.375A>C | |
15 | g.89792218C>A | CA393783007 | ANPEP | c.2470G>T (p.Glu824Ter) n.374G>T | |
15 | g.89792218C>G | CA393783009 | ANPEP | c.2470G>C (p.Glu824Gln) n.374G>C | |
15 | g.89792218C>T | CA393783010 | ANPEP | c.2470G>A (p.Glu824Lys) n.374G>A | |
15 | g.89792219A>C | CA393783012 | ANPEP | c.2469T>G (p.Asn823Lys) n.373T>G | |
15 | g.89792219A>G | CA492105111 | ANPEP | c.2469T>C (p.Asn823=) n.373T>C | |
15 | g.89792219A>T | CA393783014 | ANPEP | c.2469T>A (p.Asn823Lys) n.373T>A | |
15 | g.89792220T>A | CA393783015 | ANPEP | c.2468A>T (p.Asn823Ile) n.372A>T | |
15 | g.89792220T>C | CA393783017 | ANPEP | c.2468A>G (p.Asn823Ser) n.372A>G | |
15 | g.89792220T>G | CA393783019 | ANPEP | c.2468A>C (p.Asn823Thr) n.372A>C | |
15 | g.89792221T>A | CA393783021 | ANPEP | c.2467A>T (p.Asn823Tyr) n.371A>T | |
15 | g.89792221T>C | CA393783023 | ANPEP | c.2467A>G (p.Asn823Asp) n.371A>G | COSMIC |
15 | g.89792221T>G | CA393783025 | ANPEP | c.2467A>C (p.Asn823His) n.371A>C | |
15 | g.89792222G>A | CA492105116 | ANPEP | c.2466C>T (p.Val822=) n.370C>T | |
15 | g.89792222G>C | CA492105117 | ANPEP | c.2466C>G (p.Val822=) n.370C>G | |
15 | g.89792222G>T | CA492105118 | ANPEP | c.2466C>A (p.Val822=) n.370C>A | |
15 | g.89792223A= | CA2194794678 | ANPEP | c.2465T= (p.Val822=) n.369T= | |
15 | g.89792223A>C | CA393783027 | ANPEP | c.2465T>G (p.Val822Gly) n.369T>G | |
15 | g.89792223A>G | CA393783029 | ANPEP | c.2465T>C (p.Val822Ala) n.369T>C | dbSNP |
15 | g.89792223A>T | CA393783030 | ANPEP | c.2465T>A (p.Val822Asp) n.369T>A | |
15 | g.89792224C>A | CA393783032 | ANPEP | c.2464G>T (p.Val822Phe) n.368G>T | |
15 | g.89792224C>G | CA393783033 | ANPEP | c.2464G>C (p.Val822Leu) n.368G>C | |
15 | g.89792224C>T | CA393783035 | ANPEP | c.2464G>A (p.Val822Ile) n.368G>A | gnomAD v4 |
15 | g.89792225C>A | CA492105122 | ANPEP | c.2463G>T (p.Leu821=) n.367G>T | |
15 | g.89792225C= | CA2194794682 | ANPEP | c.2463G= (p.Leu821=) n.367G= | |
15 | g.89792225C>G | CA492105123 | ANPEP | c.2463G>C (p.Leu821=) n.367G>C | |
15 | g.89792225C>T | CA7730794 | ANPEP | c.2463G>A (p.Leu821=) n.367G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89792226A= | CA2194794686 | ANPEP | c.2462T= (p.Leu821=) n.366T= | |
15 | g.89792226A>C | CA393783037 | ANPEP | c.2462T>G (p.Leu821Arg) n.366T>G | |
15 | g.89792226A>G | CA393783041 | ANPEP | c.2462T>C (p.Leu821Pro) n.366T>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89792226A>T | CA393783039 | ANPEP | c.2462T>A (p.Leu821Gln) n.366T>A | |
15 | g.89792227G>A | CA492105126 | ANPEP | c.2461C>T (p.Leu821=) n.365C>T | |
15 | g.89792227G>C | CA7730795 | ANPEP | c.2461C>G (p.Leu821Val) n.365C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89792227G= | CA2194794690 | ANPEP | c.2461C= (p.Leu821=) n.365C= | |
15 | g.89792227G>T | CA393783043 | ANPEP | c.2461C>A (p.Leu821Met) n.365C>A | |
15 | g.89792228T>A | CA492105127 | ANPEP | c.2460A>T (p.Thr820=) n.364A>T | |
15 | g.89792228T>C | CA492105128 | ANPEP | c.2460A>G (p.Thr820=) n.364A>G | |
15 | g.89792228T>G | CA492105130 | ANPEP | c.2460A>C (p.Thr820=) n.364A>C | |
15 | g.89792229G>A | CA393783044 | ANPEP | c.2459C>T (p.Thr820Ile) n.363C>T | gnomAD v4 |
15 | g.89792229G>C | CA393783046 | ANPEP | c.2459C>G (p.Thr820Arg) n.363C>G | |
15 | g.89792229G>T | CA393783048 | ANPEP | c.2459C>A (p.Thr820Lys) n.363C>A | |
15 | g.89792230T>A | CA393783050 | ANPEP | c.2458A>T (p.Thr820Ser) n.362A>T | |
15 | g.89792230T>C | CA393783052 | ANPEP | c.2458A>G (p.Thr820Ala) n.362A>G | gnomAD v4 |
15 | g.89792230T>G | CA393783054 | ANPEP | c.2458A>C (p.Thr820Pro) n.362A>C | |
15 | g.89792231G>A | CA492105132 | ANPEP | c.2457C>T (p.Ala819=) n.361C>T | |
15 | g.89792231G>C | CA492105133 | ANPEP | c.2457C>G (p.Ala819=) n.361C>G | |
15 | g.89792231G>T | CA492105131 | ANPEP | c.2457C>A (p.Ala819=) n.361C>A | |
15 | g.89792232G>A | CA393783056 | ANPEP | c.2456C>T (p.Ala819Val) n.360C>T | |
15 | g.89792232G>C | CA393783058 | ANPEP | c.2456C>G (p.Ala819Gly) n.360C>G | |
15 | g.89792232G>T | CA393783059 | ANPEP | c.2456C>A (p.Ala819Asp) n.360C>A | |
15 | g.89792233C>A | CA7730797 | ANPEP | c.2455G>T (p.Ala819Ser) n.359G>T | dbSNP ExAC gnomAD v4 |
15 | g.89792233C= | CA2194794695 | ANPEP | c.2455G= (p.Ala819=) n.359G= | |
15 | g.89792233C>G | CA393783061 | ANPEP | c.2455G>C (p.Ala819Pro) n.359G>C | |
15 | g.89792233C>T | CA7730796 | ANPEP | c.2455G>A (p.Ala819Thr) n.359G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89792234A>C | CA393783064 | ANPEP | c.2454T>G (p.Asn818Lys) n.358T>G | |
15 | g.89792234A>G | CA492105137 | ANPEP | c.2454T>C (p.Asn818=) n.358T>C | |
15 | g.89792234A>T | CA393783065 | ANPEP | c.2454T>A (p.Asn818Lys) n.358T>A | |
15 | g.89792235T>A | CA393783067 | ANPEP | c.2453A>T (p.Asn818Ile) n.357A>T | |
15 | g.89792235T>C | CA393783068 | ANPEP | c.2453A>G (p.Asn818Ser) n.357A>G | dbSNP |
15 | g.89792235T>G | CA393783070 | ANPEP | c.2453A>C (p.Asn818Thr) n.357A>C | |
15 | g.89792235T= | CA2194794699 | ANPEP | c.2453A= (p.Asn818=) n.357A= | |
15 | g.89792237del | CA2630295900 | ANPEP | c.2453del (p.Asn818MetfsTer24) n.357del | gnomAD v4 |
15 | g.89792236T>A | CA393783071 | ANPEP | c.2452A>T (p.Asn818Tyr) n.356A>T | |
15 | g.89792236T>C | CA393783072 | ANPEP | c.2452A>G (p.Asn818Asp) n.356A>G | |
15 | g.89792236T>G | CA393783074 | ANPEP | c.2452A>C (p.Asn818His) n.356A>C | |
15 | g.89792237T>A | CA492105142 | ANPEP | c.2451A>T (p.Arg817=) n.355A>T | |
15 | g.89792237T>C | CA492105143 | ANPEP | c.2451A>G (p.Arg817=) n.355A>G | |
15 | g.89792237T>G | CA492105141 | ANPEP | c.2451A>C (p.Arg817=) n.355A>C | |
15 | g.89792238C>A | CA393783076 | ANPEP | c.2450G>T (p.Arg817Leu) n.354G>T | dbSNP |
15 | g.89792238C= | CA2194794705 | ANPEP | c.2450G= (p.Arg817=) n.354G= | |
15 | g.89792238C>G | CA393783078 | ANPEP | c.2450G>C (p.Arg817Pro) n.354G>C | |
15 | g.89792238C>T | CA7730798 | ANPEP | c.2450G>A (p.Arg817Gln) n.354G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89792239G>A | CA7730799 | ANPEP | c.2449C>T (p.Arg817Ter) n.353C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89792239G>C | CA393783081 | ANPEP | c.2449C>G (p.Arg817Gly) n.353C>G | |
15 | g.89792239G= | CA2194794709 | ANPEP | c.2449C= (p.Arg817=) n.353C= | |
15 | g.89792239G>T | CA492105147 | ANPEP | c.2449C>A (p.Arg817=) n.353C>A | |
15 | g.89792240G>A | CA492105148 | ANPEP | c.2448C>T (p.Phe816=) n.352C>T | |
15 | g.89792240G>C | CA393783082 | ANPEP | c.2448C>G (p.Phe816Leu) n.352C>G | |
15 | g.89792240G>T | CA393783083 | ANPEP | c.2448C>A (p.Phe816Leu) n.352C>A | |
15 | g.89792243_89792257del | CA2630295909 | ANPEP | c.2434_2448del (p.Ala812_Phe816del) n.338_352del | gnomAD v4 |
15 | g.89792241A= | CA2194794713 | ANPEP | c.2447T= (p.Phe816=) n.351T= | |
15 | g.89792241A>C | CA393783084 | ANPEP | c.2447T>G (p.Phe816Cys) n.351T>G | |
15 | g.89792241A>G | CA393783087 | ANPEP | c.2447T>C (p.Phe816Ser) n.351T>C | |
15 | g.89792241A>T | CA393783085 | ANPEP | c.2447T>A (p.Phe816Tyr) n.351T>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89792242A>C | CA393783089 | ANPEP | c.2446T>G (p.Phe816Val) n.350T>G | |
15 | g.89792242A>G | CA393783092 | ANPEP | c.2446T>C (p.Phe816Leu) n.350T>C | |
15 | g.89792242A>T | CA393783091 | ANPEP | c.2446T>A (p.Phe816Ile) n.350T>A | |
15 | g.89792243C>A | CA393783093 | ANPEP | c.2445G>T (p.Gln815His) n.349G>T | |
15 | g.89792243C>G | CA393783094 | ANPEP | c.2445G>C (p.Gln815His) n.349G>C | |
15 | g.89792243C>T | CA492105152 | ANPEP | c.2445G>A (p.Gln815=) n.349G>A | gnomAD v4 |
15 | g.89792244T>A | CA393783095 | ANPEP | c.2444A>T (p.Gln815Leu) n.348A>T | |
15 | g.89792244T>C | CA393783097 | ANPEP | c.2444A>G (p.Gln815Arg) n.348A>G | |
15 | g.89792244T>G | CA393783098 | ANPEP | c.2444A>C (p.Gln815Pro) n.348A>C | |
15 | g.89792245G>A | CA393783099 | ANPEP | c.2443C>T (p.Gln815Ter) n.347C>T | |
15 | g.89792245G>C | CA393783100 | ANPEP | c.2443C>G (p.Gln815Glu) n.347C>G | |
15 | g.89792245G= | CA2194794715 | ANPEP | c.2443C= (p.Gln815=) n.347C= | |
15 | g.89792245G>T | CA7730800 | ANPEP | c.2443C>A (p.Gln815Lys) n.347C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89792246C>A | CA393783103 | ANPEP | c.2442G>T (p.Glu814Asp) n.346G>T | |
15 | g.89792246C>G | CA393783105 | ANPEP | c.2442G>C (p.Glu814Asp) n.346G>C | |
15 | g.89792246C>T | CA492105156 | ANPEP | c.2442G>A (p.Glu814=) n.346G>A | |
15 | g.89792247T>A | CA393783106 | ANPEP | c.2441A>T (p.Glu814Val) n.345A>T | |
15 | g.89792247T>C | CA393783108 | ANPEP | c.2441A>G (p.Glu814Gly) n.345A>G | |
15 | g.89792247T>G | CA393783109 | ANPEP | c.2441A>C (p.Glu814Ala) n.345A>C | |
15 | g.89792248C>A | CA393783115 | ANPEP | c.2440G>T (p.Glu814Ter) n.344G>T | dbSNP |
15 | g.89792248C= | CA2194794717 | ANPEP | c.2440G= (p.Glu814=) n.344G= | |
15 | g.89792248C>G | CA393783112 | ANPEP | c.2440G>C (p.Glu814Gln) n.344G>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89792248C>T | CA393783113 | ANPEP | c.2440G>A (p.Glu814Lys) n.344G>A | |
15 | g.89792249C>A | CA393783116 | ANPEP | c.2439G>T (p.Trp813Cys) n.343G>T | |
15 | g.89792249C>G | CA393783118 | ANPEP | c.2439G>C (p.Trp813Cys) n.343G>C | |
15 | g.89792249C>T | CA393783120 | ANPEP | c.2439G>A (p.Trp813Ter) n.343G>A | |
15 | g.89792249_89792258delinsCCAGGCGAAG | CA2194794722 | ANPEP | c.2430_2439delinsCTTCGCCTGG (p.Asp810=) n.334_343delinsCTTCGCCTGG | |
15 | g.89792250C>A | CA393783122 | ANPEP | c.2438G>T (p.Trp813Leu) n.342G>T | |
15 | g.89792250C>G | CA393783123 | ANPEP | c.2438G>C (p.Trp813Ser) n.342G>C | |
15 | g.89792250C>T | CA393783124 | ANPEP | c.2438G>A (p.Trp813Ter) n.342G>A | |
15 | g.89792250_89792258del | CA2194794727 | ANPEP | c.2430_2438del (p.Asp810_Trp813delinsGlu) n.334_342del | dbSNP |
15 | g.89792251A>C | CA393783126 | ANPEP | c.2437T>G (p.Trp813Gly) n.341T>G | |
15 | g.89792251A>G | CA393783128 | ANPEP | c.2437T>C (p.Trp813Arg) n.341T>C | |
15 | g.89792251A>T | CA393783129 | ANPEP | c.2437T>A (p.Trp813Arg) n.341T>A | |
15 | g.89792252G>A | CA492105159 | ANPEP | c.2436C>T (p.Ala812=) n.340C>T | gnomAD v4 |
15 | g.89792252G>C | CA492105161 | ANPEP | c.2436C>G (p.Ala812=) n.340C>G | |
15 | g.89792252G>T | CA492105163 | ANPEP | c.2436C>A (p.Ala812=) n.340C>A | |
15 | g.89792253G>A | CA393783131 | ANPEP | c.2435C>T (p.Ala812Val) n.339C>T | gnomAD v4 |
15 | g.89792253G>C | CA393783133 | ANPEP | c.2435C>G (p.Ala812Gly) n.339C>G | |
15 | g.89792253G>T | CA393783134 | ANPEP | c.2435C>A (p.Ala812Asp) n.339C>A | |
15 | g.89792254_89792255del | CA2630295921 | ANPEP | c.2434_2435del (p.Ala812LeufsTer12) n.338_339del | gnomAD v4 |
15 | g.89792254C>A | CA393783135 | ANPEP | c.2434G>T (p.Ala812Ser) n.338G>T | gnomAD v4 |
15 | g.89792254C= | CA2194794731 | ANPEP | c.2434G= (p.Ala812=) n.338G= | |
15 | g.89792254C>G | CA393783137 | ANPEP | c.2434G>C (p.Ala812Pro) n.338G>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89792254C>T | CA7730801 | ANPEP | c.2434G>A (p.Ala812Thr) n.338G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89792255_89792260del | CA2630295927 | ANPEP | c.2429_2434del (p.Asp810_Phe811del) n.333_338del | gnomAD v4 |
15 | g.89792255G>A | CA7730802 | ANPEP | c.2433C>T (p.Phe811=) n.337C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89792255G>C | CA393783139 | ANPEP | c.2433C>G (p.Phe811Leu) n.337C>G | |
15 | g.89792255G= | CA2194794740 | ANPEP | c.2433C= (p.Phe811=) n.337C= | |
15 | g.89792255G>T | CA393783140 | ANPEP | c.2433C>A (p.Phe811Leu) n.337C>A | |
15 | g.89792255dup | CA2630295936 | ANPEP | c.2433dup (p.Ala812ArgfsTer13) n.337dup | gnomAD v4 |
15 | g.89792255_89792256del | CA2575831477 | ANPEP | c.2432_2433del (p.Phe811CysfsTer13) n.336_337del | gnomAD v4 |
15 | g.89792256A>C | CA393783142 | ANPEP | c.2432T>G (p.Phe811Cys) n.336T>G | |
15 | g.89792256A>G | CA393783144 | ANPEP | c.2432T>C (p.Phe811Ser) n.336T>C | |
15 | g.89792256A>T | CA393783145 | ANPEP | c.2432T>A (p.Phe811Tyr) n.336T>A |