Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151406117A=CA2479570515POGZc.2966T= (p.Leu989=)
c.2759T= (p.Leu920=)
c.2918T= (p.Leu973=)
c.2939T= (p.Leu980=)
n.3066T=
c.2633T= (p.Leu878=)
c.2891T= (p.Leu964=)
c.2786T= (p.Leu929=)
c.2732T= (p.Leu911=)
c.2810T= (p.Leu937=)
c.2561T= (p.Leu854=)
c.2792T= (p.Leu931=)
c.1718T= (p.Leu573=)
n.2773T=
1g.151406117A>CCA341947512POGZc.2966T>G (p.Leu989Arg)
c.2759T>G (p.Leu920Arg)
c.2918T>G (p.Leu973Arg)
c.2939T>G (p.Leu980Arg)
n.3066T>G
c.2633T>G (p.Leu878Arg)
c.2891T>G (p.Leu964Arg)
c.2786T>G (p.Leu929Arg)
c.2732T>G (p.Leu911Arg)
c.2810T>G (p.Leu937Arg)
c.2561T>G (p.Leu854Arg)
c.2792T>G (p.Leu931Arg)
c.1718T>G (p.Leu573Arg)
n.2773T>G
1g.151406117A>GCA341947514POGZc.2966T>C (p.Leu989Pro)
c.2759T>C (p.Leu920Pro)
c.2918T>C (p.Leu973Pro)
c.2939T>C (p.Leu980Pro)
n.3066T>C
c.2633T>C (p.Leu878Pro)
c.2891T>C (p.Leu964Pro)
c.2786T>C (p.Leu929Pro)
c.2732T>C (p.Leu911Pro)
c.2810T>C (p.Leu937Pro)
c.2561T>C (p.Leu854Pro)
c.2792T>C (p.Leu931Pro)
c.1718T>C (p.Leu573Pro)
n.2773T>C
1g.151406117A>TCA341947517POGZc.2966T>A (p.Leu989Gln)
c.2759T>A (p.Leu920Gln)
c.2918T>A (p.Leu973Gln)
c.2939T>A (p.Leu980Gln)
n.3066T>A
c.2633T>A (p.Leu878Gln)
c.2891T>A (p.Leu964Gln)
c.2786T>A (p.Leu929Gln)
c.2732T>A (p.Leu911Gln)
c.2810T>A (p.Leu937Gln)
c.2561T>A (p.Leu854Gln)
c.2792T>A (p.Leu931Gln)
c.1718T>A (p.Leu573Gln)
n.2773T>A
 dbSNP gnomAD v2 gnomAD v4
1g.151406118G>ACA420909949POGZc.2965C>T (p.Leu989=)
c.2758C>T (p.Leu920=)
c.2917C>T (p.Leu973=)
c.2938C>T (p.Leu980=)
n.3065C>T
c.2632C>T (p.Leu878=)
c.2890C>T (p.Leu964=)
c.2785C>T (p.Leu929=)
c.2731C>T (p.Leu911=)
c.2809C>T (p.Leu937=)
c.2560C>T (p.Leu854=)
c.2791C>T (p.Leu931=)
c.1717C>T (p.Leu573=)
n.2772C>T
1g.151406118G>CCA341947521POGZc.2965C>G (p.Leu989Val)
c.2758C>G (p.Leu920Val)
c.2917C>G (p.Leu973Val)
c.2938C>G (p.Leu980Val)
n.3065C>G
c.2632C>G (p.Leu878Val)
c.2890C>G (p.Leu964Val)
c.2785C>G (p.Leu929Val)
c.2731C>G (p.Leu911Val)
c.2809C>G (p.Leu937Val)
c.2560C>G (p.Leu854Val)
c.2791C>G (p.Leu931Val)
c.1717C>G (p.Leu573Val)
n.2772C>G
1g.151406118G>TCA341947522POGZc.2965C>A (p.Leu989Met)
c.2758C>A (p.Leu920Met)
c.2917C>A (p.Leu973Met)
c.2938C>A (p.Leu980Met)
n.3065C>A
c.2632C>A (p.Leu878Met)
c.2890C>A (p.Leu964Met)
c.2785C>A (p.Leu929Met)
c.2731C>A (p.Leu911Met)
c.2809C>A (p.Leu937Met)
c.2560C>A (p.Leu854Met)
c.2791C>A (p.Leu931Met)
c.1717C>A (p.Leu573Met)
n.2772C>A
1g.151406119C>ACA341947526POGZc.2964G>T (p.Gln988His)
c.2757G>T (p.Gln919His)
c.2916G>T (p.Gln972His)
c.2937G>T (p.Gln979His)
n.3064G>T
c.2631G>T (p.Gln877His)
c.2889G>T (p.Gln963His)
c.2784G>T (p.Gln928His)
c.2730G>T (p.Gln910His)
c.2808G>T (p.Gln936His)
c.2559G>T (p.Gln853His)
c.2790G>T (p.Gln930His)
c.1716G>T (p.Gln572His)
n.2771G>T
1g.151406119C=CA2479570516POGZc.2964G= (p.Gln988=)
c.2757G= (p.Gln919=)
c.2916G= (p.Gln972=)
c.2937G= (p.Gln979=)
n.3064G=
c.2631G= (p.Gln877=)
c.2889G= (p.Gln963=)
c.2784G= (p.Gln928=)
c.2730G= (p.Gln910=)
c.2808G= (p.Gln936=)
c.2559G= (p.Gln853=)
c.2790G= (p.Gln930=)
c.1716G= (p.Gln572=)
n.2771G=
1g.151406119C>GCA341947529POGZc.2964G>C (p.Gln988His)
c.2757G>C (p.Gln919His)
c.2916G>C (p.Gln972His)
c.2937G>C (p.Gln979His)
n.3064G>C
c.2631G>C (p.Gln877His)
c.2889G>C (p.Gln963His)
c.2784G>C (p.Gln928His)
c.2730G>C (p.Gln910His)
c.2808G>C (p.Gln936His)
c.2559G>C (p.Gln853His)
c.2790G>C (p.Gln930His)
c.1716G>C (p.Gln572His)
n.2771G>C
1g.151406119C>TCA1091035POGZc.2964G>A (p.Gln988=)
c.2757G>A (p.Gln919=)
c.2916G>A (p.Gln972=)
c.2937G>A (p.Gln979=)
n.3064G>A
c.2631G>A (p.Gln877=)
c.2889G>A (p.Gln963=)
c.2784G>A (p.Gln928=)
c.2730G>A (p.Gln910=)
c.2808G>A (p.Gln936=)
c.2559G>A (p.Gln853=)
c.2790G>A (p.Gln930=)
c.1716G>A (p.Gln572=)
n.2771G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406120T>ACA341947546POGZc.2963A>T (p.Gln988Leu)
c.2756A>T (p.Gln919Leu)
c.2915A>T (p.Gln972Leu)
c.2936A>T (p.Gln979Leu)
n.3063A>T
c.2630A>T (p.Gln877Leu)
c.2888A>T (p.Gln963Leu)
c.2783A>T (p.Gln928Leu)
c.2729A>T (p.Gln910Leu)
c.2807A>T (p.Gln936Leu)
c.2558A>T (p.Gln853Leu)
c.2789A>T (p.Gln930Leu)
c.1715A>T (p.Gln572Leu)
n.2770A>T
1g.151406120T>CCA341947543POGZc.2963A>G (p.Gln988Arg)
c.2756A>G (p.Gln919Arg)
c.2915A>G (p.Gln972Arg)
c.2936A>G (p.Gln979Arg)
n.3063A>G
c.2630A>G (p.Gln877Arg)
c.2888A>G (p.Gln963Arg)
c.2783A>G (p.Gln928Arg)
c.2729A>G (p.Gln910Arg)
c.2807A>G (p.Gln936Arg)
c.2558A>G (p.Gln853Arg)
c.2789A>G (p.Gln930Arg)
c.1715A>G (p.Gln572Arg)
n.2770A>G
1g.151406120T>GCA341947539POGZc.2963A>C (p.Gln988Pro)
c.2756A>C (p.Gln919Pro)
c.2915A>C (p.Gln972Pro)
c.2936A>C (p.Gln979Pro)
n.3063A>C
c.2630A>C (p.Gln877Pro)
c.2888A>C (p.Gln963Pro)
c.2783A>C (p.Gln928Pro)
c.2729A>C (p.Gln910Pro)
c.2807A>C (p.Gln936Pro)
c.2558A>C (p.Gln853Pro)
c.2789A>C (p.Gln930Pro)
c.1715A>C (p.Gln572Pro)
n.2770A>C
1g.151406121G>ACA341947549POGZc.2962C>T (p.Gln988Ter)
c.2755C>T (p.Gln919Ter)
c.2914C>T (p.Gln972Ter)
c.2935C>T (p.Gln979Ter)
n.3062C>T
c.2629C>T (p.Gln877Ter)
c.2887C>T (p.Gln963Ter)
c.2782C>T (p.Gln928Ter)
c.2728C>T (p.Gln910Ter)
c.2806C>T (p.Gln936Ter)
c.2557C>T (p.Gln853Ter)
c.2788C>T (p.Gln930Ter)
c.1714C>T (p.Gln572Ter)
n.2769C>T
 ClinVar dbSNP
1g.151406121G>CCA341947550POGZc.2962C>G (p.Gln988Glu)
c.2755C>G (p.Gln919Glu)
c.2914C>G (p.Gln972Glu)
c.2935C>G (p.Gln979Glu)
n.3062C>G
c.2629C>G (p.Gln877Glu)
c.2887C>G (p.Gln963Glu)
c.2782C>G (p.Gln928Glu)
c.2728C>G (p.Gln910Glu)
c.2806C>G (p.Gln936Glu)
c.2557C>G (p.Gln853Glu)
c.2788C>G (p.Gln930Glu)
c.1714C>G (p.Gln572Glu)
n.2769C>G
1g.151406121G=CA2479570517POGZc.2962C= (p.Gln988=)
c.2755C= (p.Gln919=)
c.2914C= (p.Gln972=)
c.2935C= (p.Gln979=)
n.3062C=
c.2629C= (p.Gln877=)
c.2887C= (p.Gln963=)
c.2782C= (p.Gln928=)
c.2728C= (p.Gln910=)
c.2806C= (p.Gln936=)
c.2557C= (p.Gln853=)
c.2788C= (p.Gln930=)
c.1714C= (p.Gln572=)
n.2769C=
1g.151406121G>TCA341947551POGZc.2962C>A (p.Gln988Lys)
c.2755C>A (p.Gln919Lys)
c.2914C>A (p.Gln972Lys)
c.2935C>A (p.Gln979Lys)
n.3062C>A
c.2629C>A (p.Gln877Lys)
c.2887C>A (p.Gln963Lys)
c.2782C>A (p.Gln928Lys)
c.2728C>A (p.Gln910Lys)
c.2806C>A (p.Gln936Lys)
c.2557C>A (p.Gln853Lys)
c.2788C>A (p.Gln930Lys)
c.1714C>A (p.Gln572Lys)
n.2769C>A
1g.151406122C>ACA341947553POGZc.2961G>T (p.Glu987Asp)
c.2754G>T (p.Glu918Asp)
c.2913G>T (p.Glu971Asp)
c.2934G>T (p.Glu978Asp)
n.3061G>T
c.2628G>T (p.Glu876Asp)
c.2886G>T (p.Glu962Asp)
c.2781G>T (p.Glu927Asp)
c.2727G>T (p.Glu909Asp)
c.2805G>T (p.Glu935Asp)
c.2556G>T (p.Glu852Asp)
c.2787G>T (p.Glu929Asp)
c.1713G>T (p.Glu571Asp)
n.2768G>T
1g.151406122C=CA1141367361POGZc.2961G= (p.Glu987=)
c.2754G= (p.Glu918=)
c.2913G= (p.Glu971=)
c.2934G= (p.Glu978=)
n.3061G=
c.2628G= (p.Glu876=)
c.2886G= (p.Glu962=)
c.2781G= (p.Glu927=)
c.2727G= (p.Glu909=)
c.2805G= (p.Glu935=)
c.2556G= (p.Glu852=)
c.2787G= (p.Glu929=)
c.1713G= (p.Glu571=)
n.2768G=
1g.151406122C>GCA341947555POGZc.2961G>C (p.Glu987Asp)
c.2754G>C (p.Glu918Asp)
c.2913G>C (p.Glu971Asp)
c.2934G>C (p.Glu978Asp)
n.3061G>C
c.2628G>C (p.Glu876Asp)
c.2886G>C (p.Glu962Asp)
c.2781G>C (p.Glu927Asp)
c.2727G>C (p.Glu909Asp)
c.2805G>C (p.Glu935Asp)
c.2556G>C (p.Glu852Asp)
c.2787G>C (p.Glu929Asp)
c.1713G>C (p.Glu571Asp)
n.2768G>C
1g.151406122C>TCA1091036POGZc.2961G>A (p.Glu987=)
c.2754G>A (p.Glu918=)
c.2913G>A (p.Glu971=)
c.2934G>A (p.Glu978=)
n.3061G>A
c.2628G>A (p.Glu876=)
c.2886G>A (p.Glu962=)
c.2781G>A (p.Glu927=)
c.2727G>A (p.Glu909=)
c.2805G>A (p.Glu935=)
c.2556G>A (p.Glu852=)
c.2787G>A (p.Glu929=)
c.1713G>A (p.Glu571=)
n.2768G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406123T>ACA341947593POGZc.2960A>T (p.Glu987Val)
c.2753A>T (p.Glu918Val)
c.2912A>T (p.Glu971Val)
c.2933A>T (p.Glu978Val)
n.3060A>T
c.2627A>T (p.Glu876Val)
c.2885A>T (p.Glu962Val)
c.2780A>T (p.Glu927Val)
c.2726A>T (p.Glu909Val)
c.2804A>T (p.Glu935Val)
c.2555A>T (p.Glu852Val)
c.2786A>T (p.Glu929Val)
c.1712A>T (p.Glu571Val)
n.2767A>T
1g.151406123T>CCA341947596POGZc.2960A>G (p.Glu987Gly)
c.2753A>G (p.Glu918Gly)
c.2912A>G (p.Glu971Gly)
c.2933A>G (p.Glu978Gly)
n.3060A>G
c.2627A>G (p.Glu876Gly)
c.2885A>G (p.Glu962Gly)
c.2780A>G (p.Glu927Gly)
c.2726A>G (p.Glu909Gly)
c.2804A>G (p.Glu935Gly)
c.2555A>G (p.Glu852Gly)
c.2786A>G (p.Glu929Gly)
c.1712A>G (p.Glu571Gly)
n.2767A>G
1g.151406123T>GCA341947598POGZc.2960A>C (p.Glu987Ala)
c.2753A>C (p.Glu918Ala)
c.2912A>C (p.Glu971Ala)
c.2933A>C (p.Glu978Ala)
n.3060A>C
c.2627A>C (p.Glu876Ala)
c.2885A>C (p.Glu962Ala)
c.2780A>C (p.Glu927Ala)
c.2726A>C (p.Glu909Ala)
c.2804A>C (p.Glu935Ala)
c.2555A>C (p.Glu852Ala)
c.2786A>C (p.Glu929Ala)
c.1712A>C (p.Glu571Ala)
n.2767A>C
1g.151406124C>ACA341947606POGZc.2959G>T (p.Glu987Ter)
c.2752G>T (p.Glu918Ter)
c.2911G>T (p.Glu971Ter)
c.2932G>T (p.Glu978Ter)
n.3059G>T
c.2626G>T (p.Glu876Ter)
c.2884G>T (p.Glu962Ter)
c.2779G>T (p.Glu927Ter)
c.2725G>T (p.Glu909Ter)
c.2803G>T (p.Glu935Ter)
c.2554G>T (p.Glu852Ter)
c.2785G>T (p.Glu929Ter)
c.1711G>T (p.Glu571Ter)
n.2766G>T
1g.151406124C>GCA341947609POGZc.2959G>C (p.Glu987Gln)
c.2752G>C (p.Glu918Gln)
c.2911G>C (p.Glu971Gln)
c.2932G>C (p.Glu978Gln)
n.3059G>C
c.2626G>C (p.Glu876Gln)
c.2884G>C (p.Glu962Gln)
c.2779G>C (p.Glu927Gln)
c.2725G>C (p.Glu909Gln)
c.2803G>C (p.Glu935Gln)
c.2554G>C (p.Glu852Gln)
c.2785G>C (p.Glu929Gln)
c.1711G>C (p.Glu571Gln)
n.2766G>C
1g.151406124C>TCA341947623POGZc.2959G>A (p.Glu987Lys)
c.2752G>A (p.Glu918Lys)
c.2911G>A (p.Glu971Lys)
c.2932G>A (p.Glu978Lys)
n.3059G>A
c.2626G>A (p.Glu876Lys)
c.2884G>A (p.Glu962Lys)
c.2779G>A (p.Glu927Lys)
c.2725G>A (p.Glu909Lys)
c.2803G>A (p.Glu935Lys)
c.2554G>A (p.Glu852Lys)
c.2785G>A (p.Glu929Lys)
c.1711G>A (p.Glu571Lys)
n.2766G>A
1g.151406125C>ACA341947632POGZc.2958G>T (p.Lys986Asn)
c.2751G>T (p.Lys917Asn)
c.2910G>T (p.Lys970Asn)
c.2931G>T (p.Lys977Asn)
n.3058G>T
c.2625G>T (p.Lys875Asn)
c.2883G>T (p.Lys961Asn)
c.2778G>T (p.Lys926Asn)
c.2724G>T (p.Lys908Asn)
c.2802G>T (p.Lys934Asn)
c.2553G>T (p.Lys851Asn)
c.2784G>T (p.Lys928Asn)
c.1710G>T (p.Lys570Asn)
n.2765G>T
1g.151406125C=CA1143365921POGZc.2958G= (p.Lys986=)
c.2751G= (p.Lys917=)
c.2910G= (p.Lys970=)
c.2931G= (p.Lys977=)
n.3058G=
c.2625G= (p.Lys875=)
c.2883G= (p.Lys961=)
c.2778G= (p.Lys926=)
c.2724G= (p.Lys908=)
c.2802G= (p.Lys934=)
c.2553G= (p.Lys851=)
c.2784G= (p.Lys928=)
c.1710G= (p.Lys570=)
n.2765G=
1g.151406125C>GCA341947629POGZc.2958G>C (p.Lys986Asn)
c.2751G>C (p.Lys917Asn)
c.2910G>C (p.Lys970Asn)
c.2931G>C (p.Lys977Asn)
n.3058G>C
c.2625G>C (p.Lys875Asn)
c.2883G>C (p.Lys961Asn)
c.2778G>C (p.Lys926Asn)
c.2724G>C (p.Lys908Asn)
c.2802G>C (p.Lys934Asn)
c.2553G>C (p.Lys851Asn)
c.2784G>C (p.Lys928Asn)
c.1710G>C (p.Lys570Asn)
n.2765G>C
1g.151406125C>TCA1091037POGZc.2958G>A (p.Lys986=)
c.2751G>A (p.Lys917=)
c.2910G>A (p.Lys970=)
c.2931G>A (p.Lys977=)
n.3058G>A
c.2625G>A (p.Lys875=)
c.2883G>A (p.Lys961=)
c.2778G>A (p.Lys926=)
c.2724G>A (p.Lys908=)
c.2802G>A (p.Lys934=)
c.2553G>A (p.Lys851=)
c.2784G>A (p.Lys928=)
c.1710G>A (p.Lys570=)
n.2765G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406126T>ACA341947636POGZc.2957A>T (p.Lys986Met)
c.2750A>T (p.Lys917Met)
c.2909A>T (p.Lys970Met)
c.2930A>T (p.Lys977Met)
n.3057A>T
c.2624A>T (p.Lys875Met)
c.2882A>T (p.Lys961Met)
c.2777A>T (p.Lys926Met)
c.2723A>T (p.Lys908Met)
c.2801A>T (p.Lys934Met)
c.2552A>T (p.Lys851Met)
c.2783A>T (p.Lys928Met)
c.1709A>T (p.Lys570Met)
n.2764A>T
1g.151406126T>CCA341947641POGZc.2957A>G (p.Lys986Arg)
c.2750A>G (p.Lys917Arg)
c.2909A>G (p.Lys970Arg)
c.2930A>G (p.Lys977Arg)
n.3057A>G
c.2624A>G (p.Lys875Arg)
c.2882A>G (p.Lys961Arg)
c.2777A>G (p.Lys926Arg)
c.2723A>G (p.Lys908Arg)
c.2801A>G (p.Lys934Arg)
c.2552A>G (p.Lys851Arg)
c.2783A>G (p.Lys928Arg)
c.1709A>G (p.Lys570Arg)
n.2764A>G
1g.151406126T>GCA341947650POGZc.2957A>C (p.Lys986Thr)
c.2750A>C (p.Lys917Thr)
c.2909A>C (p.Lys970Thr)
c.2930A>C (p.Lys977Thr)
n.3057A>C
c.2624A>C (p.Lys875Thr)
c.2882A>C (p.Lys961Thr)
c.2777A>C (p.Lys926Thr)
c.2723A>C (p.Lys908Thr)
c.2801A>C (p.Lys934Thr)
c.2552A>C (p.Lys851Thr)
c.2783A>C (p.Lys928Thr)
c.1709A>C (p.Lys570Thr)
n.2764A>C
1g.151406127T>ACA341947655POGZc.2956A>T (p.Lys986Ter)
c.2749A>T (p.Lys917Ter)
c.2908A>T (p.Lys970Ter)
c.2929A>T (p.Lys977Ter)
n.3056A>T
c.2623A>T (p.Lys875Ter)
c.2881A>T (p.Lys961Ter)
c.2776A>T (p.Lys926Ter)
c.2722A>T (p.Lys908Ter)
c.2800A>T (p.Lys934Ter)
c.2551A>T (p.Lys851Ter)
c.2782A>T (p.Lys928Ter)
c.1708A>T (p.Lys570Ter)
n.2763A>T
1g.151406127T>CCA341947658POGZc.2956A>G (p.Lys986Glu)
c.2749A>G (p.Lys917Glu)
c.2908A>G (p.Lys970Glu)
c.2929A>G (p.Lys977Glu)
n.3056A>G
c.2623A>G (p.Lys875Glu)
c.2881A>G (p.Lys961Glu)
c.2776A>G (p.Lys926Glu)
c.2722A>G (p.Lys908Glu)
c.2800A>G (p.Lys934Glu)
c.2551A>G (p.Lys851Glu)
c.2782A>G (p.Lys928Glu)
c.1708A>G (p.Lys570Glu)
n.2763A>G
1g.151406127T>GCA341947661POGZc.2956A>C (p.Lys986Gln)
c.2749A>C (p.Lys917Gln)
c.2908A>C (p.Lys970Gln)
c.2929A>C (p.Lys977Gln)
n.3056A>C
c.2623A>C (p.Lys875Gln)
c.2881A>C (p.Lys961Gln)
c.2776A>C (p.Lys926Gln)
c.2722A>C (p.Lys908Gln)
c.2800A>C (p.Lys934Gln)
c.2551A>C (p.Lys851Gln)
c.2782A>C (p.Lys928Gln)
c.1708A>C (p.Lys570Gln)
n.2763A>C
1g.151406128T>ACA341947674POGZc.2955A>T (p.Lys985Asn)
c.2748A>T (p.Lys916Asn)
c.2907A>T (p.Lys969Asn)
c.2928A>T (p.Lys976Asn)
n.3055A>T
c.2622A>T (p.Lys874Asn)
c.2880A>T (p.Lys960Asn)
c.2775A>T (p.Lys925Asn)
c.2721A>T (p.Lys907Asn)
c.2799A>T (p.Lys933Asn)
c.2550A>T (p.Lys850Asn)
c.2781A>T (p.Lys927Asn)
c.1707A>T (p.Lys569Asn)
n.2762A>T
1g.151406128T>CCA420909959POGZc.2955A>G (p.Lys985=)
c.2748A>G (p.Lys916=)
c.2907A>G (p.Lys969=)
c.2928A>G (p.Lys976=)
n.3055A>G
c.2622A>G (p.Lys874=)
c.2880A>G (p.Lys960=)
c.2775A>G (p.Lys925=)
c.2721A>G (p.Lys907=)
c.2799A>G (p.Lys933=)
c.2550A>G (p.Lys850=)
c.2781A>G (p.Lys927=)
c.1707A>G (p.Lys569=)
n.2762A>G
1g.151406128T>GCA341947677POGZc.2955A>C (p.Lys985Asn)
c.2748A>C (p.Lys916Asn)
c.2907A>C (p.Lys969Asn)
c.2928A>C (p.Lys976Asn)
n.3055A>C
c.2622A>C (p.Lys874Asn)
c.2880A>C (p.Lys960Asn)
c.2775A>C (p.Lys925Asn)
c.2721A>C (p.Lys907Asn)
c.2799A>C (p.Lys933Asn)
c.2550A>C (p.Lys850Asn)
c.2781A>C (p.Lys927Asn)
c.1707A>C (p.Lys569Asn)
n.2762A>C
1g.151406129T>ACA341947684POGZc.2954A>T (p.Lys985Ile)
c.2747A>T (p.Lys916Ile)
c.2906A>T (p.Lys969Ile)
c.2927A>T (p.Lys976Ile)
n.3054A>T
c.2621A>T (p.Lys874Ile)
c.2879A>T (p.Lys960Ile)
c.2774A>T (p.Lys925Ile)
c.2720A>T (p.Lys907Ile)
c.2798A>T (p.Lys933Ile)
c.2549A>T (p.Lys850Ile)
c.2780A>T (p.Lys927Ile)
c.1706A>T (p.Lys569Ile)
n.2761A>T
1g.151406129T>CCA29569232POGZc.2954A>G (p.Lys985Arg)
c.2747A>G (p.Lys916Arg)
c.2906A>G (p.Lys969Arg)
c.2927A>G (p.Lys976Arg)
n.3054A>G
c.2621A>G (p.Lys874Arg)
c.2879A>G (p.Lys960Arg)
c.2774A>G (p.Lys925Arg)
c.2720A>G (p.Lys907Arg)
c.2798A>G (p.Lys933Arg)
c.2549A>G (p.Lys850Arg)
c.2780A>G (p.Lys927Arg)
c.1706A>G (p.Lys569Arg)
n.2761A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406129T>GCA341947689POGZc.2954A>C (p.Lys985Thr)
c.2747A>C (p.Lys916Thr)
c.2906A>C (p.Lys969Thr)
c.2927A>C (p.Lys976Thr)
n.3054A>C
c.2621A>C (p.Lys874Thr)
c.2879A>C (p.Lys960Thr)
c.2774A>C (p.Lys925Thr)
c.2720A>C (p.Lys907Thr)
c.2798A>C (p.Lys933Thr)
c.2549A>C (p.Lys850Thr)
c.2780A>C (p.Lys927Thr)
c.1706A>C (p.Lys569Thr)
n.2761A>C
1g.151406129T=CA1141960376POGZc.2954A= (p.Lys985=)
c.2747A= (p.Lys916=)
c.2906A= (p.Lys969=)
c.2927A= (p.Lys976=)
n.3054A=
c.2621A= (p.Lys874=)
c.2879A= (p.Lys960=)
c.2774A= (p.Lys925=)
c.2720A= (p.Lys907=)
c.2798A= (p.Lys933=)
c.2549A= (p.Lys850=)
c.2780A= (p.Lys927=)
c.1706A= (p.Lys569=)
n.2761A=
1g.151406130T>ACA341947700POGZc.2953A>T (p.Lys985Ter)
c.2746A>T (p.Lys916Ter)
c.2905A>T (p.Lys969Ter)
c.2926A>T (p.Lys976Ter)
n.3053A>T
c.2620A>T (p.Lys874Ter)
c.2878A>T (p.Lys960Ter)
c.2773A>T (p.Lys925Ter)
c.2719A>T (p.Lys907Ter)
c.2797A>T (p.Lys933Ter)
c.2548A>T (p.Lys850Ter)
c.2779A>T (p.Lys927Ter)
c.1705A>T (p.Lys569Ter)
n.2760A>T
1g.151406130T>CCA341947695POGZc.2953A>G (p.Lys985Glu)
c.2746A>G (p.Lys916Glu)
c.2905A>G (p.Lys969Glu)
c.2926A>G (p.Lys976Glu)
n.3053A>G
c.2620A>G (p.Lys874Glu)
c.2878A>G (p.Lys960Glu)
c.2773A>G (p.Lys925Glu)
c.2719A>G (p.Lys907Glu)
c.2797A>G (p.Lys933Glu)
c.2548A>G (p.Lys850Glu)
c.2779A>G (p.Lys927Glu)
c.1705A>G (p.Lys569Glu)
n.2760A>G
1g.151406130T>GCA341947693POGZc.2953A>C (p.Lys985Gln)
c.2746A>C (p.Lys916Gln)
c.2905A>C (p.Lys969Gln)
c.2926A>C (p.Lys976Gln)
n.3053A>C
c.2620A>C (p.Lys874Gln)
c.2878A>C (p.Lys960Gln)
c.2773A>C (p.Lys925Gln)
c.2719A>C (p.Lys907Gln)
c.2797A>C (p.Lys933Gln)
c.2548A>C (p.Lys850Gln)
c.2779A>C (p.Lys927Gln)
c.1705A>C (p.Lys569Gln)
n.2760A>C
1g.151406131G>ACA420909963POGZc.2952C>T (p.Gly984=)
c.2745C>T (p.Gly915=)
c.2904C>T (p.Gly968=)
c.2925C>T (p.Gly975=)
n.3052C>T
c.2619C>T (p.Gly873=)
c.2877C>T (p.Gly959=)
c.2772C>T (p.Gly924=)
c.2718C>T (p.Gly906=)
c.2796C>T (p.Gly932=)
c.2547C>T (p.Gly849=)
c.2778C>T (p.Gly926=)
c.1704C>T (p.Gly568=)
n.2759C>T
 gnomAD v4
1g.151406131G>CCA420909965POGZc.2952C>G (p.Gly984=)
c.2745C>G (p.Gly915=)
c.2904C>G (p.Gly968=)
c.2925C>G (p.Gly975=)
n.3052C>G
c.2619C>G (p.Gly873=)
c.2877C>G (p.Gly959=)
c.2772C>G (p.Gly924=)
c.2718C>G (p.Gly906=)
c.2796C>G (p.Gly932=)
c.2547C>G (p.Gly849=)
c.2778C>G (p.Gly926=)
c.1704C>G (p.Gly568=)
n.2759C>G

Number of alleles fetched