Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48756329T>ACA392343133CEP152c.2919A>T (p.Glu973Asp)
c.2640A>T (p.Glu880Asp)
c.960A>T (p.Glu320Asp)
c.954A>T (p.Glu318Asp)
n.3884A>T
n.3870A>T
15g.48756329T>CCA7548447CEP152c.2919A>G (p.Glu973=)
c.2640A>G (p.Glu880=)
c.960A>G (p.Glu320=)
c.954A>G (p.Glu318=)
n.3884A>G
n.3870A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756329T>GCA392343134CEP152c.2919A>C (p.Glu973Asp)
c.2640A>C (p.Glu880Asp)
c.960A>C (p.Glu320Asp)
c.954A>C (p.Glu318Asp)
n.3884A>C
n.3870A>C
15g.48756329T=CA2175629083CEP152c.2919A= (p.Glu973=)
c.2640A= (p.Glu880=)
c.960A= (p.Glu320=)
c.954A= (p.Glu318=)
n.3884A=
n.3870A=
15g.48756330T>ACA392343135CEP152c.2918A>T (p.Glu973Val)
c.2639A>T (p.Glu880Val)
c.959A>T (p.Glu320Val)
c.953A>T (p.Glu318Val)
n.3883A>T
n.3869A>T
15g.48756330T>CCA392343136CEP152c.2918A>G (p.Glu973Gly)
c.2639A>G (p.Glu880Gly)
c.959A>G (p.Glu320Gly)
c.953A>G (p.Glu318Gly)
n.3883A>G
n.3869A>G
15g.48756330T>GCA392343137CEP152c.2918A>C (p.Glu973Ala)
c.2639A>C (p.Glu880Ala)
c.959A>C (p.Glu320Ala)
c.953A>C (p.Glu318Ala)
n.3883A>C
n.3869A>C
15g.48756331C>ACA392343138CEP152c.2917G>T (p.Glu973Ter)
c.2638G>T (p.Glu880Ter)
c.958G>T (p.Glu320Ter)
c.952G>T (p.Glu318Ter)
n.3882G>T
n.3868G>T
15g.48756331C>GCA392343139CEP152c.2917G>C (p.Glu973Gln)
c.2638G>C (p.Glu880Gln)
c.958G>C (p.Glu320Gln)
c.952G>C (p.Glu318Gln)
n.3882G>C
n.3868G>C
15g.48756331C>TCA392343140CEP152c.2917G>A (p.Glu973Lys)
c.2638G>A (p.Glu880Lys)
c.958G>A (p.Glu320Lys)
c.952G>A (p.Glu318Lys)
n.3882G>A
n.3868G>A
 COSMIC
15g.48756332T>ACA392343142CEP152c.2916A>T (p.Gln972His)
c.2637A>T (p.Gln879His)
c.957A>T (p.Gln319His)
c.951A>T (p.Gln317His)
n.3881A>T
n.3867A>T
15g.48756332T>CCA490311324CEP152c.2916A>G (p.Gln972=)
c.2637A>G (p.Gln879=)
c.957A>G (p.Gln319=)
c.951A>G (p.Gln317=)
n.3881A>G
n.3867A>G
15g.48756332T>GCA392343141CEP152c.2916A>C (p.Gln972His)
c.2637A>C (p.Gln879His)
c.957A>C (p.Gln319His)
c.951A>C (p.Gln317His)
n.3881A>C
n.3867A>C
15g.48756333T>ACA392343143CEP152c.2915A>T (p.Gln972Leu)
c.2636A>T (p.Gln879Leu)
c.956A>T (p.Gln319Leu)
c.950A>T (p.Gln317Leu)
n.3880A>T
n.3866A>T
15g.48756333T>CCA392343144CEP152c.2915A>G (p.Gln972Arg)
c.2636A>G (p.Gln879Arg)
c.956A>G (p.Gln319Arg)
c.950A>G (p.Gln317Arg)
n.3880A>G
n.3866A>G
15g.48756333T>GCA392343145CEP152c.2915A>C (p.Gln972Pro)
c.2636A>C (p.Gln879Pro)
c.956A>C (p.Gln319Pro)
c.950A>C (p.Gln317Pro)
n.3880A>C
n.3866A>C
 gnomAD v4
15g.48756334G>ACA392343146CEP152c.2914C>T (p.Gln972Ter)
c.2635C>T (p.Gln879Ter)
c.955C>T (p.Gln319Ter)
c.949C>T (p.Gln317Ter)
n.3879C>T
n.3865C>T
15g.48756334G>CCA392343147CEP152c.2914C>G (p.Gln972Glu)
c.2635C>G (p.Gln879Glu)
c.955C>G (p.Gln319Glu)
c.949C>G (p.Gln317Glu)
n.3879C>G
n.3865C>G
15g.48756334G>TCA392343148CEP152c.2914C>A (p.Gln972Lys)
c.2635C>A (p.Gln879Lys)
c.955C>A (p.Gln319Lys)
c.949C>A (p.Gln317Lys)
n.3879C>A
n.3865C>A
15g.48756335G>ACA490311325CEP152c.2913C>T (p.Ile971=)
c.2634C>T (p.Ile878=)
c.954C>T (p.Ile318=)
c.948C>T (p.Ile316=)
n.3878C>T
n.3864C>T
15g.48756335G>CCA392343149CEP152c.2913C>G (p.Ile971Met)
c.2634C>G (p.Ile878Met)
c.954C>G (p.Ile318Met)
c.948C>G (p.Ile316Met)
n.3878C>G
n.3864C>G
 COSMIC COSMIC
15g.48756335G>TCA490311326CEP152c.2913C>A (p.Ile971=)
c.2634C>A (p.Ile878=)
c.954C>A (p.Ile318=)
c.948C>A (p.Ile316=)
n.3878C>A
n.3864C>A
15g.48756336A>CCA392343150CEP152c.2912T>G (p.Ile971Ser)
c.2633T>G (p.Ile878Ser)
c.953T>G (p.Ile318Ser)
c.947T>G (p.Ile316Ser)
n.3877T>G
n.3863T>G
15g.48756336A>GCA392343151CEP152c.2912T>C (p.Ile971Thr)
c.2633T>C (p.Ile878Thr)
c.953T>C (p.Ile318Thr)
c.947T>C (p.Ile316Thr)
n.3877T>C
n.3863T>C
15g.48756336A>TCA392343152CEP152c.2912T>A (p.Ile971Asn)
c.2633T>A (p.Ile878Asn)
c.953T>A (p.Ile318Asn)
c.947T>A (p.Ile316Asn)
n.3877T>A
n.3863T>A
15g.48756337T>ACA392343153CEP152c.2911A>T (p.Ile971Phe)
c.2632A>T (p.Ile878Phe)
c.952A>T (p.Ile318Phe)
c.946A>T (p.Ile316Phe)
n.3876A>T
n.3862A>T
15g.48756337T>CCA392343154CEP152c.2911A>G (p.Ile971Val)
c.2632A>G (p.Ile878Val)
c.952A>G (p.Ile318Val)
c.946A>G (p.Ile316Val)
n.3876A>G
n.3862A>G
15g.48756337T>GCA269538028CEP152c.2911A>C (p.Ile971Leu)
c.2632A>C (p.Ile878Leu)
c.952A>C (p.Ile318Leu)
c.946A>C (p.Ile316Leu)
n.3876A>C
n.3862A>C
 dbSNP gnomAD v2 gnomAD v4
15g.48756337T=CA2175629085CEP152c.2911A= (p.Ile971=)
c.2632A= (p.Ile878=)
c.952A= (p.Ile318=)
c.946A= (p.Ile316=)
n.3876A=
n.3862A=
15g.48756338T>ACA392343155CEP152c.2910A>T (p.Arg970Ser)
c.2631A>T (p.Arg877Ser)
c.951A>T (p.Arg317Ser)
c.945A>T (p.Arg315Ser)
n.3875A>T
n.3861A>T
 gnomAD v4
15g.48756338T>CCA490311327CEP152c.2910A>G (p.Arg970=)
c.2631A>G (p.Arg877=)
c.951A>G (p.Arg317=)
c.945A>G (p.Arg315=)
n.3875A>G
n.3861A>G
15g.48756338T>GCA392343156CEP152c.2910A>C (p.Arg970Ser)
c.2631A>C (p.Arg877Ser)
c.951A>C (p.Arg317Ser)
c.945A>C (p.Arg315Ser)
n.3875A>C
n.3861A>C
15g.48756339C>ACA392343157CEP152c.2909G>T (p.Arg970Ile)
c.2630G>T (p.Arg877Ile)
c.950G>T (p.Arg317Ile)
c.944G>T (p.Arg315Ile)
n.3874G>T
n.3860G>T
15g.48756339C>GCA392343159CEP152c.2909G>C (p.Arg970Thr)
c.2630G>C (p.Arg877Thr)
c.950G>C (p.Arg317Thr)
c.944G>C (p.Arg315Thr)
n.3874G>C
n.3860G>C
15g.48756339C>TCA392343158CEP152c.2909G>A (p.Arg970Lys)
c.2630G>A (p.Arg877Lys)
c.950G>A (p.Arg317Lys)
c.944G>A (p.Arg315Lys)
n.3874G>A
n.3860G>A
15g.48756340T>ACA392343160CEP152c.2908A>T (p.Arg970Ter)
c.2629A>T (p.Arg877Ter)
c.949A>T (p.Arg317Ter)
c.943A>T (p.Arg315Ter)
n.3873A>T
n.3859A>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756340T>CCA392343161CEP152c.2908A>G (p.Arg970Gly)
c.2629A>G (p.Arg877Gly)
c.949A>G (p.Arg317Gly)
c.943A>G (p.Arg315Gly)
n.3873A>G
n.3859A>G
15g.48756340T>GCA490311328CEP152c.2908A>C (p.Arg970=)
c.2629A>C (p.Arg877=)
c.949A>C (p.Arg317=)
c.943A>C (p.Arg315=)
n.3873A>C
n.3859A>C
15g.48756340T=CA2175629088CEP152c.2908A= (p.Arg970=)
c.2629A= (p.Arg877=)
c.949A= (p.Arg317=)
c.943A= (p.Arg315=)
n.3873A=
n.3859A=
15g.48756341G>ACA490311329CEP152c.2907C>T (p.His969=)
c.2628C>T (p.His876=)
c.948C>T (p.His316=)
c.942C>T (p.His314=)
n.3872C>T
n.3858C>T
15g.48756341G>CCA392343162CEP152c.2907C>G (p.His969Gln)
c.2628C>G (p.His876Gln)
c.948C>G (p.His316Gln)
c.942C>G (p.His314Gln)
n.3872C>G
n.3858C>G
15g.48756341G>TCA392343163CEP152c.2907C>A (p.His969Gln)
c.2628C>A (p.His876Gln)
c.948C>A (p.His316Gln)
c.942C>A (p.His314Gln)
n.3872C>A
n.3858C>A
15g.48756342T>ACA392343164CEP152c.2906A>T (p.His969Leu)
c.2627A>T (p.His876Leu)
c.947A>T (p.His316Leu)
c.941A>T (p.His314Leu)
n.3871A>T
n.3857A>T
15g.48756342T>CCA392343165CEP152c.2906A>G (p.His969Arg)
c.2627A>G (p.His876Arg)
c.947A>G (p.His316Arg)
c.941A>G (p.His314Arg)
n.3871A>G
n.3857A>G
15g.48756342T>GCA392343166CEP152c.2906A>C (p.His969Pro)
c.2627A>C (p.His876Pro)
c.947A>C (p.His316Pro)
c.941A>C (p.His314Pro)
n.3871A>C
n.3857A>C
15g.48756343G>ACA7548448CEP152c.2905C>T (p.His969Tyr)
c.2626C>T (p.His876Tyr)
c.946C>T (p.His316Tyr)
c.940C>T (p.His314Tyr)
n.3870C>T
n.3856C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756343G>CCA392343167CEP152c.2905C>G (p.His969Asp)
c.2626C>G (p.His876Asp)
c.946C>G (p.His316Asp)
c.940C>G (p.His314Asp)
n.3870C>G
n.3856C>G
15g.48756343G=CA2175629091CEP152c.2905C= (p.His969=)
c.2626C= (p.His876=)
c.946C= (p.His316=)
c.940C= (p.His314=)
n.3870C=
n.3856C=
15g.48756343G>TCA392343168CEP152c.2905C>A (p.His969Asn)
c.2626C>A (p.His876Asn)
c.946C>A (p.His316Asn)
c.940C>A (p.His314Asn)
n.3870C>A
n.3856C>A
15g.48756344G>ACA490311330CEP152c.2904C>T (p.Ile968=)
c.2625C>T (p.Ile875=)
c.945C>T (p.Ile315=)
c.939C>T (p.Ile313=)
n.3869C>T
n.3855C>T
 gnomAD v4
15g.48756344G>CCA392343169CEP152c.2904C>G (p.Ile968Met)
c.2625C>G (p.Ile875Met)
c.945C>G (p.Ile315Met)
c.939C>G (p.Ile313Met)
n.3869C>G
n.3855C>G
15g.48756344G=CA2175629095CEP152c.2904C= (p.Ile968=)
c.2625C= (p.Ile875=)
c.945C= (p.Ile315=)
c.939C= (p.Ile313=)
n.3869C=
n.3855C=
15g.48756344G>TCA490311331CEP152c.2904C>A (p.Ile968=)
c.2625C>A (p.Ile875=)
c.945C>A (p.Ile315=)
c.939C>A (p.Ile313=)
n.3869C>A
n.3855C>A
 dbSNP
15g.48756345A>CCA392343170CEP152c.2903T>G (p.Ile968Ser)
c.2624T>G (p.Ile875Ser)
c.944T>G (p.Ile315Ser)
c.938T>G (p.Ile313Ser)
n.3868T>G
n.3854T>G
15g.48756345A>GCA392343171CEP152c.2903T>C (p.Ile968Thr)
c.2624T>C (p.Ile875Thr)
c.944T>C (p.Ile315Thr)
c.938T>C (p.Ile313Thr)
n.3868T>C
n.3854T>C
15g.48756345A>TCA392343172CEP152c.2903T>A (p.Ile968Asn)
c.2624T>A (p.Ile875Asn)
c.944T>A (p.Ile315Asn)
c.938T>A (p.Ile313Asn)
n.3868T>A
n.3854T>A
15g.48756346T>ACA392343173CEP152c.2902A>T (p.Ile968Phe)
c.2623A>T (p.Ile875Phe)
c.943A>T (p.Ile315Phe)
c.937A>T (p.Ile313Phe)
n.3867A>T
n.3853A>T
15g.48756346T>CCA269538035CEP152c.2902A>G (p.Ile968Val)
c.2623A>G (p.Ile875Val)
c.943A>G (p.Ile315Val)
c.937A>G (p.Ile313Val)
n.3867A>G
n.3853A>G
 dbSNP
15g.48756346T>GCA392343174CEP152c.2902A>C (p.Ile968Leu)
c.2623A>C (p.Ile875Leu)
c.943A>C (p.Ile315Leu)
c.937A>C (p.Ile313Leu)
n.3867A>C
n.3853A>C
15g.48756346T=CA2175629098CEP152c.2902A= (p.Ile968=)
c.2623A= (p.Ile875=)
c.943A= (p.Ile315=)
c.937A= (p.Ile313=)
n.3867A=
n.3853A=
15g.48756347T>ACA392343176CEP152c.2901A>T (p.Glu967Asp)
c.2622A>T (p.Glu874Asp)
c.942A>T (p.Glu314Asp)
c.936A>T (p.Glu312Asp)
n.3866A>T
n.3852A>T
15g.48756347T>CCA10647104CEP152c.2901A>G (p.Glu967=)
c.2622A>G (p.Glu874=)
c.942A>G (p.Glu314=)
c.936A>G (p.Glu312=)
n.3866A>G
n.3852A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48756347T>GCA392343175CEP152c.2901A>C (p.Glu967Asp)
c.2622A>C (p.Glu874Asp)
c.942A>C (p.Glu314Asp)
c.936A>C (p.Glu312Asp)
n.3866A>C
n.3852A>C
15g.48756347T=CA2175629107CEP152c.2901A= (p.Glu967=)
c.2622A= (p.Glu874=)
c.942A= (p.Glu314=)
c.936A= (p.Glu312=)
n.3866A=
n.3852A=
15g.48756348T>ACA392343177CEP152c.2900A>T (p.Glu967Val)
c.2621A>T (p.Glu874Val)
c.941A>T (p.Glu314Val)
c.935A>T (p.Glu312Val)
n.3865A>T
n.3851A>T
15g.48756348T>CCA392343178CEP152c.2900A>G (p.Glu967Gly)
c.2621A>G (p.Glu874Gly)
c.941A>G (p.Glu314Gly)
c.935A>G (p.Glu312Gly)
n.3865A>G
n.3851A>G
15g.48756348T>GCA392343179CEP152c.2900A>C (p.Glu967Ala)
c.2621A>C (p.Glu874Ala)
c.941A>C (p.Glu314Ala)
c.935A>C (p.Glu312Ala)
n.3865A>C
n.3851A>C
15g.48756349C>ACA392343180CEP152c.2899G>T (p.Glu967Ter)
c.2620G>T (p.Glu874Ter)
c.940G>T (p.Glu314Ter)
c.934G>T (p.Glu312Ter)
n.3864G>T
n.3850G>T
15g.48756349C=CA2175629111CEP152c.2899G= (p.Glu967=)
c.2620G= (p.Glu874=)
c.940G= (p.Glu314=)
c.934G= (p.Glu312=)
n.3864G=
n.3850G=
15g.48756349C>GCA392343181CEP152c.2899G>C (p.Glu967Gln)
c.2620G>C (p.Glu874Gln)
c.940G>C (p.Glu314Gln)
c.934G>C (p.Glu312Gln)
n.3864G>C
n.3850G>C
15g.48756349C>TCA392343182CEP152c.2899G>A (p.Glu967Lys)
c.2620G>A (p.Glu874Lys)
c.940G>A (p.Glu314Lys)
c.934G>A (p.Glu312Lys)
n.3864G>A
n.3850G>A
 dbSNP gnomAD v4
15g.48756350T>ACA392343183CEP152c.2898A>T (p.Glu966Asp)
c.2619A>T (p.Glu873Asp)
c.939A>T (p.Glu313Asp)
c.933A>T (p.Glu311Asp)
n.3863A>T
n.3849A>T
15g.48756350T>CCA269538042CEP152c.2898A>G (p.Glu966=)
c.2619A>G (p.Glu873=)
c.939A>G (p.Glu313=)
c.933A>G (p.Glu311=)
n.3863A>G
n.3849A>G
 dbSNP gnomAD v4
15g.48756350T>GCA392343184CEP152c.2898A>C (p.Glu966Asp)
c.2619A>C (p.Glu873Asp)
c.939A>C (p.Glu313Asp)
c.933A>C (p.Glu311Asp)
n.3863A>C
n.3849A>C
15g.48756350T=CA2175629114CEP152c.2898A= (p.Glu966=)
c.2619A= (p.Glu873=)
c.939A= (p.Glu313=)
c.933A= (p.Glu311=)
n.3863A=
n.3849A=
15g.48756351T>ACA392343185CEP152c.2897A>T (p.Glu966Val)
c.2618A>T (p.Glu873Val)
c.938A>T (p.Glu313Val)
c.932A>T (p.Glu311Val)
n.3862A>T
n.3848A>T
15g.48756351T>CCA269538046CEP152c.2897A>G (p.Glu966Gly)
c.2618A>G (p.Glu873Gly)
c.938A>G (p.Glu313Gly)
c.932A>G (p.Glu311Gly)
n.3862A>G
n.3848A>G
 dbSNP gnomAD v4
15g.48756351T>GCA392343186CEP152c.2897A>C (p.Glu966Ala)
c.2618A>C (p.Glu873Ala)
c.938A>C (p.Glu313Ala)
c.932A>C (p.Glu311Ala)
n.3862A>C
n.3848A>C
15g.48756351T=CA2175629120CEP152c.2897A= (p.Glu966=)
c.2618A= (p.Glu873=)
c.938A= (p.Glu313=)
c.932A= (p.Glu311=)
n.3862A=
n.3848A=
15g.48756352C>ACA392343187CEP152c.2896G>T (p.Glu966Ter)
c.2617G>T (p.Glu873Ter)
c.937G>T (p.Glu313Ter)
c.931G>T (p.Glu311Ter)
n.3861G>T
n.3847G>T
 gnomAD v4
15g.48756352C=CA2175629123CEP152c.2896G= (p.Glu966=)
c.2617G= (p.Glu873=)
c.937G= (p.Glu313=)
c.931G= (p.Glu311=)
n.3861G=
n.3847G=
15g.48756352C>GCA392343189CEP152c.2896G>C (p.Glu966Gln)
c.2617G>C (p.Glu873Gln)
c.937G>C (p.Glu313Gln)
c.931G>C (p.Glu311Gln)
n.3861G>C
n.3847G>C
 gnomAD v4
15g.48756352C>TCA392343188CEP152c.2896G>A (p.Glu966Lys)
c.2617G>A (p.Glu873Lys)
c.937G>A (p.Glu313Lys)
c.931G>A (p.Glu311Lys)
n.3861G>A
n.3847G>A
 dbSNP gnomAD v3 gnomAD v4
15g.48756355_48756358delCA2575718055CEP152c.2893_2896del (p.Gln965LysfsTer18)
c.2614_2617del (p.Gln872LysfsTer18)
c.934_937del (p.Gln312LysfsTer18)
c.928_931del (p.Gln310LysfsTer18)
n.3858_3861del
n.3844_3847del
 gnomAD v4
15g.48756353T>ACA392343190CEP152c.2895A>T (p.Gln965His)
c.2616A>T (p.Gln872His)
c.936A>T (p.Gln312His)
c.930A>T (p.Gln310His)
n.3860A>T
n.3846A>T
15g.48756353T>CCA490311332CEP152c.2895A>G (p.Gln965=)
c.2616A>G (p.Gln872=)
c.936A>G (p.Gln312=)
c.930A>G (p.Gln310=)
n.3860A>G
n.3846A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756353T>GCA392343191CEP152c.2895A>C (p.Gln965His)
c.2616A>C (p.Gln872His)
c.936A>C (p.Gln312His)
c.930A>C (p.Gln310His)
n.3860A>C
n.3846A>C
15g.48756353T=CA2175629127CEP152c.2895A= (p.Gln965=)
c.2616A= (p.Gln872=)
c.936A= (p.Gln312=)
c.930A= (p.Gln310=)
n.3860A=
n.3846A=
15g.48756354T>ACA392343192CEP152c.2894A>T (p.Gln965Leu)
c.2615A>T (p.Gln872Leu)
c.935A>T (p.Gln312Leu)
c.929A>T (p.Gln310Leu)
n.3859A>T
n.3845A>T
15g.48756354T>CCA269538051CEP152c.2894A>G (p.Gln965Arg)
c.2615A>G (p.Gln872Arg)
c.935A>G (p.Gln312Arg)
c.929A>G (p.Gln310Arg)
n.3859A>G
n.3845A>G
 dbSNP
15g.48756354T>GCA392343193CEP152c.2894A>C (p.Gln965Pro)
c.2615A>C (p.Gln872Pro)
c.935A>C (p.Gln312Pro)
c.929A>C (p.Gln310Pro)
n.3859A>C
n.3845A>C
15g.48756354T=CA2175629132CEP152c.2894A= (p.Gln965=)
c.2615A= (p.Gln872=)
c.935A= (p.Gln312=)
c.929A= (p.Gln310=)
n.3859A=
n.3845A=
15g.48756355G>ACA392343194CEP152c.2893C>T (p.Gln965Ter)
c.2614C>T (p.Gln872Ter)
c.934C>T (p.Gln312Ter)
c.928C>T (p.Gln310Ter)
n.3858C>T
n.3844C>T
 dbSNP
15g.48756355G>CCA7548449CEP152c.2893C>G (p.Gln965Glu)
c.2614C>G (p.Gln872Glu)
c.934C>G (p.Gln312Glu)
c.928C>G (p.Gln310Glu)
n.3858C>G
n.3844C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756355G=CA2175629138CEP152c.2893C= (p.Gln965=)
c.2614C= (p.Gln872=)
c.934C= (p.Gln312=)
c.928C= (p.Gln310=)
n.3858C=
n.3844C=
15g.48756355G>TCA392343195CEP152c.2893C>A (p.Gln965Lys)
c.2614C>A (p.Gln872Lys)
c.934C>A (p.Gln312Lys)
c.928C>A (p.Gln310Lys)
n.3858C>A
n.3844C>A
15g.48756356C>ACA392343196CEP152c.2892G>T (p.Lys964Asn)
c.2613G>T (p.Lys871Asn)
c.933G>T (p.Lys311Asn)
c.927G>T (p.Lys309Asn)
n.3857G>T
n.3843G>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756356C=CA2175629141CEP152c.2892G= (p.Lys964=)
c.2613G= (p.Lys871=)
c.933G= (p.Lys311=)
c.927G= (p.Lys309=)
n.3857G=
n.3843G=
15g.48756356C>GCA392343197CEP152c.2892G>C (p.Lys964Asn)
c.2613G>C (p.Lys871Asn)
c.933G>C (p.Lys311Asn)
c.927G>C (p.Lys309Asn)
n.3857G>C
n.3843G>C
15g.48756356C>TCA490311333CEP152c.2892G>A (p.Lys964=)
c.2613G>A (p.Lys871=)
c.933G>A (p.Lys311=)
c.927G>A (p.Lys309=)
n.3857G>A
n.3843G>A
 dbSNP gnomAD v4
15g.48756357T>ACA392343198CEP152c.2891A>T (p.Lys964Met)
c.2612A>T (p.Lys871Met)
c.932A>T (p.Lys311Met)
c.926A>T (p.Lys309Met)
n.3856A>T
n.3842A>T
15g.48756357T>CCA392343199CEP152c.2891A>G (p.Lys964Arg)
c.2612A>G (p.Lys871Arg)
c.932A>G (p.Lys311Arg)
c.926A>G (p.Lys309Arg)
n.3856A>G
n.3842A>G
15g.48756357T>GCA392343200CEP152c.2891A>C (p.Lys964Thr)
c.2612A>C (p.Lys871Thr)
c.932A>C (p.Lys311Thr)
c.926A>C (p.Lys309Thr)
n.3856A>C
n.3842A>C
15g.48756358T>ACA392343201CEP152c.2890A>T (p.Lys964Ter)
c.2611A>T (p.Lys871Ter)
c.931A>T (p.Lys311Ter)
c.925A>T (p.Lys309Ter)
n.3855A>T
n.3841A>T
15g.48756358T>CCA392343203CEP152c.2890A>G (p.Lys964Glu)
c.2611A>G (p.Lys871Glu)
c.931A>G (p.Lys311Glu)
c.925A>G (p.Lys309Glu)
n.3855A>G
n.3841A>G
 gnomAD v4
15g.48756358T>GCA392343202CEP152c.2890A>C (p.Lys964Gln)
c.2611A>C (p.Lys871Gln)
c.931A>C (p.Lys311Gln)
c.925A>C (p.Lys309Gln)
n.3855A>C
n.3841A>C
15g.48756359T>ACA392343204CEP152c.2889A>T (p.Glu963Asp)
c.2610A>T (p.Glu870Asp)
c.930A>T (p.Glu310Asp)
c.924A>T (p.Glu308Asp)
n.3854A>T
n.3840A>T
15g.48756359T>CCA490311334CEP152c.2889A>G (p.Glu963=)
c.2610A>G (p.Glu870=)
c.930A>G (p.Glu310=)
c.924A>G (p.Glu308=)
n.3854A>G
n.3840A>G
15g.48756359T>GCA392343205CEP152c.2889A>C (p.Glu963Asp)
c.2610A>C (p.Glu870Asp)
c.930A>C (p.Glu310Asp)
c.924A>C (p.Glu308Asp)
n.3854A>C
n.3840A>C
15g.48756360T>ACA392343206CEP152c.2888A>T (p.Glu963Val)
c.2609A>T (p.Glu870Val)
c.929A>T (p.Glu310Val)
c.923A>T (p.Glu308Val)
n.3853A>T
n.3839A>T
15g.48756360T>CCA392343207CEP152c.2888A>G (p.Glu963Gly)
c.2609A>G (p.Glu870Gly)
c.929A>G (p.Glu310Gly)
c.923A>G (p.Glu308Gly)
n.3853A>G
n.3839A>G
 gnomAD v4
15g.48756360T>GCA392343208CEP152c.2888A>C (p.Glu963Ala)
c.2609A>C (p.Glu870Ala)
c.929A>C (p.Glu310Ala)
c.923A>C (p.Glu308Ala)
n.3853A>C
n.3839A>C
15g.48756361C>ACA392343209CEP152c.2887G>T (p.Glu963Ter)
c.2608G>T (p.Glu870Ter)
c.928G>T (p.Glu310Ter)
c.922G>T (p.Glu308Ter)
n.3852G>T
n.3838G>T
 COSMIC
15g.48756361C>GCA392343210CEP152c.2887G>C (p.Glu963Gln)
c.2608G>C (p.Glu870Gln)
c.928G>C (p.Glu310Gln)
c.922G>C (p.Glu308Gln)
n.3852G>C
n.3838G>C
15g.48756361C>TCA392343211CEP152c.2887G>A (p.Glu963Lys)
c.2608G>A (p.Glu870Lys)
c.928G>A (p.Glu310Lys)
c.922G>A (p.Glu308Lys)
n.3852G>A
n.3838G>A
15g.48756362T>ACA392343212CEP152c.2886A>T (p.Lys962Asn)
c.2607A>T (p.Lys869Asn)
c.927A>T (p.Lys309Asn)
c.921A>T (p.Lys307Asn)
n.3851A>T
n.3837A>T
15g.48756362T>CCA490311336CEP152c.2886A>G (p.Lys962=)
c.2607A>G (p.Lys869=)
c.927A>G (p.Lys309=)
c.921A>G (p.Lys307=)
n.3851A>G
n.3837A>G
 ClinVar
15g.48756362T>GCA392343213CEP152c.2886A>C (p.Lys962Asn)
c.2607A>C (p.Lys869Asn)
c.927A>C (p.Lys309Asn)
c.921A>C (p.Lys307Asn)
n.3851A>C
n.3837A>C
 COSMIC COSMIC
15g.48756363T>ACA392343215CEP152c.2885A>T (p.Lys962Ile)
c.2606A>T (p.Lys869Ile)
c.926A>T (p.Lys309Ile)
c.920A>T (p.Lys307Ile)
n.3850A>T
n.3836A>T
15g.48756363T>CCA392343216CEP152c.2885A>G (p.Lys962Arg)
c.2606A>G (p.Lys869Arg)
c.926A>G (p.Lys309Arg)
c.920A>G (p.Lys307Arg)
n.3850A>G
n.3836A>G
15g.48756363T>GCA392343214CEP152c.2885A>C (p.Lys962Thr)
c.2606A>C (p.Lys869Thr)
c.926A>C (p.Lys309Thr)
c.920A>C (p.Lys307Thr)
n.3850A>C
n.3836A>C
15g.48756364T>ACA392343217CEP152c.2884A>T (p.Lys962Ter)
c.2605A>T (p.Lys869Ter)
c.925A>T (p.Lys309Ter)
c.919A>T (p.Lys307Ter)
n.3849A>T
n.3835A>T
15g.48756364T>CCA392343218CEP152c.2884A>G (p.Lys962Glu)
c.2605A>G (p.Lys869Glu)
c.925A>G (p.Lys309Glu)
c.919A>G (p.Lys307Glu)
n.3849A>G
n.3835A>G
15g.48756364T>GCA392343219CEP152c.2884A>C (p.Lys962Gln)
c.2605A>C (p.Lys869Gln)
c.925A>C (p.Lys309Gln)
c.919A>C (p.Lys307Gln)
n.3849A>C
n.3835A>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756364T=CA2175629143CEP152c.2884A= (p.Lys962=)
c.2605A= (p.Lys869=)
c.925A= (p.Lys309=)
c.919A= (p.Lys307=)
n.3849A=
n.3835A=
15g.48756365G>ACA490311337CEP152c.2883C>T (p.Asn961=)
c.2604C>T (p.Asn868=)
c.924C>T (p.Asn308=)
c.918C>T (p.Asn306=)
n.3848C>T
n.3834C>T
15g.48756365G>CCA392343220CEP152c.2883C>G (p.Asn961Lys)
c.2604C>G (p.Asn868Lys)
c.924C>G (p.Asn308Lys)
c.918C>G (p.Asn306Lys)
n.3848C>G
n.3834C>G
15g.48756365G=CA2175629146CEP152c.2883C= (p.Asn961=)
c.2604C= (p.Asn868=)
c.924C= (p.Asn308=)
c.918C= (p.Asn306=)
n.3848C=
n.3834C=
15g.48756365G>TCA392343221CEP152c.2883C>A (p.Asn961Lys)
c.2604C>A (p.Asn868Lys)
c.924C>A (p.Asn308Lys)
c.918C>A (p.Asn306Lys)
n.3848C>A
n.3834C>A
 dbSNP gnomAD v3 gnomAD v4
15g.48756366T>ACA392343223CEP152c.2882A>T (p.Asn961Ile)
c.2603A>T (p.Asn868Ile)
c.923A>T (p.Asn308Ile)
c.917A>T (p.Asn306Ile)
n.3847A>T
n.3833A>T
15g.48756366T>CCA7548450CEP152c.2882A>G (p.Asn961Ser)
c.2603A>G (p.Asn868Ser)
c.923A>G (p.Asn308Ser)
c.917A>G (p.Asn306Ser)
n.3847A>G
n.3833A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756366T>GCA392343222CEP152c.2882A>C (p.Asn961Thr)
c.2603A>C (p.Asn868Thr)
c.923A>C (p.Asn308Thr)
c.917A>C (p.Asn306Thr)
n.3847A>C
n.3833A>C
15g.48756366T=CA2175629150CEP152c.2882A= (p.Asn961=)
c.2603A= (p.Asn868=)
c.923A= (p.Asn308=)
c.917A= (p.Asn306=)
n.3847A=
n.3833A=
15g.48756367T>ACA392343224CEP152c.2881A>T (p.Asn961Tyr)
c.2602A>T (p.Asn868Tyr)
c.922A>T (p.Asn308Tyr)
c.916A>T (p.Asn306Tyr)
n.3846A>T
n.3832A>T
15g.48756367T>CCA392343225CEP152c.2881A>G (p.Asn961Asp)
c.2602A>G (p.Asn868Asp)
c.922A>G (p.Asn308Asp)
c.916A>G (p.Asn306Asp)
n.3846A>G
n.3832A>G
15g.48756367T>GCA392343226CEP152c.2881A>C (p.Asn961His)
c.2602A>C (p.Asn868His)
c.922A>C (p.Asn308His)
c.916A>C (p.Asn306His)
n.3846A>C
n.3832A>C
15g.48756368C>ACA392343227CEP152c.2880G>T (p.Trp960Cys)
c.2601G>T (p.Trp867Cys)
c.921G>T (p.Trp307Cys)
c.915G>T (p.Trp305Cys)
n.3845G>T
n.3831G>T
15g.48756368C>GCA392343228CEP152c.2880G>C (p.Trp960Cys)
c.2601G>C (p.Trp867Cys)
c.921G>C (p.Trp307Cys)
c.915G>C (p.Trp305Cys)
n.3845G>C
n.3831G>C
15g.48756368C>TCA392343229CEP152c.2880G>A (p.Trp960Ter)
c.2601G>A (p.Trp867Ter)
c.921G>A (p.Trp307Ter)
c.915G>A (p.Trp305Ter)
n.3845G>A
n.3831G>A
 ClinVar gnomAD v4
15g.48756369C>ACA392343232CEP152c.2879G>T (p.Trp960Leu)
c.2600G>T (p.Trp867Leu)
c.920G>T (p.Trp307Leu)
c.914G>T (p.Trp305Leu)
n.3844G>T
n.3830G>T
15g.48756369C>GCA392343230CEP152c.2879G>C (p.Trp960Ser)
c.2600G>C (p.Trp867Ser)
c.920G>C (p.Trp307Ser)
c.914G>C (p.Trp305Ser)
n.3844G>C
n.3830G>C
15g.48756369C>TCA392343231CEP152c.2879G>A (p.Trp960Ter)
c.2600G>A (p.Trp867Ter)
c.920G>A (p.Trp307Ter)
c.914G>A (p.Trp305Ter)
n.3844G>A
n.3830G>A
 gnomAD v4
15g.48756370A=CA2175629154CEP152c.2878T= (p.Trp960=)
c.2599T= (p.Trp867=)
c.919T= (p.Trp307=)
c.913T= (p.Trp305=)
n.3843T=
n.3829T=
15g.48756370A>CCA392343233CEP152c.2878T>G (p.Trp960Gly)
c.2599T>G (p.Trp867Gly)
c.919T>G (p.Trp307Gly)
c.913T>G (p.Trp305Gly)
n.3843T>G
n.3829T>G
15g.48756370A>GCA211044CEP152c.2878T>C (p.Trp960Arg)
c.2599T>C (p.Trp867Arg)
c.919T>C (p.Trp307Arg)
c.913T>C (p.Trp305Arg)
n.3843T>C
n.3829T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756370A>TCA392343234CEP152c.2878T>A (p.Trp960Arg)
c.2599T>A (p.Trp867Arg)
c.919T>A (p.Trp307Arg)
c.913T>A (p.Trp305Arg)
n.3843T>A
n.3829T>A
15g.48756371T>ACA392343235CEP152c.2877A>T (p.Glu959Asp)
c.2598A>T (p.Glu866Asp)
c.918A>T (p.Glu306Asp)
c.912A>T (p.Glu304Asp)
n.3842A>T
n.3828A>T
15g.48756371T>CCA490311338CEP152c.2877A>G (p.Glu959=)
c.2598A>G (p.Glu866=)
c.918A>G (p.Glu306=)
c.912A>G (p.Glu304=)
n.3842A>G
n.3828A>G
15g.48756371T>GCA392343236CEP152c.2877A>C (p.Glu959Asp)
c.2598A>C (p.Glu866Asp)
c.918A>C (p.Glu306Asp)
c.912A>C (p.Glu304Asp)
n.3842A>C
n.3828A>C
15g.48756372T>ACA392343237CEP152c.2876A>T (p.Glu959Val)
c.2597A>T (p.Glu866Val)
c.917A>T (p.Glu306Val)
c.911A>T (p.Glu304Val)
n.3841A>T
n.3827A>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756372T>CCA392343238CEP152c.2876A>G (p.Glu959Gly)
c.2597A>G (p.Glu866Gly)
c.917A>G (p.Glu306Gly)
c.911A>G (p.Glu304Gly)
n.3841A>G
n.3827A>G
15g.48756372T>GCA392343239CEP152c.2876A>C (p.Glu959Ala)
c.2597A>C (p.Glu866Ala)
c.917A>C (p.Glu306Ala)
c.911A>C (p.Glu304Ala)
n.3841A>C
n.3827A>C
15g.48756372T=CA2175629158CEP152c.2876A= (p.Glu959=)
c.2597A= (p.Glu866=)
c.917A= (p.Glu306=)
c.911A= (p.Glu304=)
n.3841A=
n.3827A=
15g.48756373C>ACA392343240CEP152c.2875G>T (p.Glu959Ter)
c.2596G>T (p.Glu866Ter)
c.916G>T (p.Glu306Ter)
c.910G>T (p.Glu304Ter)
n.3840G>T
n.3826G>T
15g.48756373C>GCA392343241CEP152c.2875G>C (p.Glu959Gln)
c.2596G>C (p.Glu866Gln)
c.916G>C (p.Glu306Gln)
c.910G>C (p.Glu304Gln)
n.3840G>C
n.3826G>C
15g.48756373C>TCA392343242CEP152c.2875G>A (p.Glu959Lys)
c.2596G>A (p.Glu866Lys)
c.916G>A (p.Glu306Lys)
c.910G>A (p.Glu304Lys)
n.3840G>A
n.3826G>A
15g.48756374A=CA2175629161CEP152c.2874T= (p.Ser958=)
c.2595T= (p.Ser865=)
c.915T= (p.Ser305=)
c.909T= (p.Ser303=)
n.3839T=
n.3825T=
15g.48756374A>CCA392343243CEP152c.2874T>G (p.Ser958Arg)
c.2595T>G (p.Ser865Arg)
c.915T>G (p.Ser305Arg)
c.909T>G (p.Ser303Arg)
n.3839T>G
n.3825T>G
15g.48756374A>GCA490311339CEP152c.2874T>C (p.Ser958=)
c.2595T>C (p.Ser865=)
c.915T>C (p.Ser305=)
c.909T>C (p.Ser303=)
n.3839T>C
n.3825T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756374A>TCA392343244CEP152c.2874T>A (p.Ser958Arg)
c.2595T>A (p.Ser865Arg)
c.915T>A (p.Ser305Arg)
c.909T>A (p.Ser303Arg)
n.3839T>A
n.3825T>A
15g.48756375C>ACA392343245CEP152c.2873G>T (p.Ser958Ile)
c.2594G>T (p.Ser865Ile)
c.914G>T (p.Ser305Ile)
c.908G>T (p.Ser303Ile)
n.3838G>T
n.3824G>T
15g.48756375C>GCA392343247CEP152c.2873G>C (p.Ser958Thr)
c.2594G>C (p.Ser865Thr)
c.914G>C (p.Ser305Thr)
c.908G>C (p.Ser303Thr)
n.3838G>C
n.3824G>C
15g.48756375C>TCA392343246CEP152c.2873G>A (p.Ser958Asn)
c.2594G>A (p.Ser865Asn)
c.914G>A (p.Ser305Asn)
c.908G>A (p.Ser303Asn)
n.3838G>A
n.3824G>A
15g.48756376T>ACA392343248CEP152c.2872A>T (p.Ser958Cys)
c.2593A>T (p.Ser865Cys)
c.913A>T (p.Ser305Cys)
c.907A>T (p.Ser303Cys)
n.3837A>T
n.3823A>T
15g.48756376T>CCA392343249CEP152c.2872A>G (p.Ser958Gly)
c.2593A>G (p.Ser865Gly)
c.913A>G (p.Ser305Gly)
c.907A>G (p.Ser303Gly)
n.3837A>G
n.3823A>G
15g.48756376T>GCA392343250CEP152c.2872A>C (p.Ser958Arg)
c.2593A>C (p.Ser865Arg)
c.913A>C (p.Ser305Arg)
c.907A>C (p.Ser303Arg)
n.3837A>C
n.3823A>C
 gnomAD v4
15g.48756377C>ACA490311341CEP152c.2871G>T (p.Arg957=)
c.2592G>T (p.Arg864=)
c.912G>T (p.Arg304=)
c.906G>T (p.Arg302=)
n.3836G>T
n.3822G>T
15g.48756377C=CA2175629165CEP152c.2871G= (p.Arg957=)
c.2592G= (p.Arg864=)
c.912G= (p.Arg304=)
c.906G= (p.Arg302=)
n.3836G=
n.3822G=
15g.48756377C>GCA490311340CEP152c.2871G>C (p.Arg957=)
c.2592G>C (p.Arg864=)
c.912G>C (p.Arg304=)
c.906G>C (p.Arg302=)
n.3836G>C
n.3822G>C
 COSMIC COSMIC
15g.48756377C>TCA7548451CEP152c.2871G>A (p.Arg957=)
c.2592G>A (p.Arg864=)
c.912G>A (p.Arg304=)
c.906G>A (p.Arg302=)
n.3836G>A
n.3822G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756378C>ACA392343251CEP152c.2870G>T (p.Arg957Leu)
c.2591G>T (p.Arg864Leu)
c.911G>T (p.Arg304Leu)
c.905G>T (p.Arg302Leu)
n.3835G>T
n.3821G>T
15g.48756378C=CA2175629168CEP152c.2870G= (p.Arg957=)
c.2591G= (p.Arg864=)
c.911G= (p.Arg304=)
c.905G= (p.Arg302=)
n.3835G=
n.3821G=
15g.48756378C>GCA392343252CEP152c.2870G>C (p.Arg957Pro)
c.2591G>C (p.Arg864Pro)
c.911G>C (p.Arg304Pro)
c.905G>C (p.Arg302Pro)
n.3835G>C
n.3821G>C
15g.48756378C>TCA7548452CEP152c.2870G>A (p.Arg957Gln)
c.2591G>A (p.Arg864Gln)
c.911G>A (p.Arg304Gln)
c.905G>A (p.Arg302Gln)
n.3835G>A
n.3821G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756379G>ACA7548453CEP152c.2869C>T (p.Arg957Trp)
c.2590C>T (p.Arg864Trp)
c.910C>T (p.Arg304Trp)
c.904C>T (p.Arg302Trp)
n.3834C>T
n.3820C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756379G>CCA7548454CEP152c.2869C>G (p.Arg957Gly)
c.2590C>G (p.Arg864Gly)
c.910C>G (p.Arg304Gly)
c.904C>G (p.Arg302Gly)
n.3834C>G
n.3820C>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.48756379G=CA2175629172CEP152c.2869C= (p.Arg957=)
c.2590C= (p.Arg864=)
c.910C= (p.Arg304=)
c.904C= (p.Arg302=)
n.3834C=
n.3820C=
15g.48756379G>TCA490311342CEP152c.2869C>A (p.Arg957=)
c.2590C>A (p.Arg864=)
c.910C>A (p.Arg304=)
c.904C>A (p.Arg302=)
n.3834C>A
n.3820C>A
15g.48756380A>CCA490311343CEP152c.2868T>G (p.Ala956=)
c.2589T>G (p.Ala863=)
c.909T>G (p.Ala303=)
c.903T>G (p.Ala301=)
n.3833T>G
n.3819T>G
15g.48756380A>GCA490311345CEP152c.2868T>C (p.Ala956=)
c.2589T>C (p.Ala863=)
c.909T>C (p.Ala303=)
c.903T>C (p.Ala301=)
n.3833T>C
n.3819T>C
15g.48756380A>TCA490311344CEP152c.2868T>A (p.Ala956=)
c.2589T>A (p.Ala863=)
c.909T>A (p.Ala303=)
c.903T>A (p.Ala301=)
n.3833T>A
n.3819T>A
15g.48756381G>ACA7548455CEP152c.2867C>T (p.Ala956Val)
c.2588C>T (p.Ala863Val)
c.908C>T (p.Ala303Val)
c.902C>T (p.Ala301Val)
n.3832C>T
n.3818C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756381G>CCA392343253CEP152c.2867C>G (p.Ala956Gly)
c.2588C>G (p.Ala863Gly)
c.908C>G (p.Ala303Gly)
c.902C>G (p.Ala301Gly)
n.3832C>G
n.3818C>G
15g.48756381G=CA2175629179CEP152c.2867C= (p.Ala956=)
c.2588C= (p.Ala863=)
c.908C= (p.Ala303=)
c.902C= (p.Ala301=)
n.3832C=
n.3818C=
15g.48756381G>TCA392343254CEP152c.2867C>A (p.Ala956Asp)
c.2588C>A (p.Ala863Asp)
c.908C>A (p.Ala303Asp)
c.902C>A (p.Ala301Asp)
n.3832C>A
n.3818C>A
15g.48756382C>ACA7548456CEP152c.2866G>T (p.Ala956Ser)
c.2587G>T (p.Ala863Ser)
c.907G>T (p.Ala303Ser)
c.901G>T (p.Ala301Ser)
n.3831G>T
n.3817G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756382C=CA2175629184CEP152c.2866G= (p.Ala956=)
c.2587G= (p.Ala863=)
c.907G= (p.Ala303=)
c.901G= (p.Ala301=)
n.3831G=
n.3817G=
15g.48756382C>GCA392343256CEP152c.2866G>C (p.Ala956Pro)
c.2587G>C (p.Ala863Pro)
c.907G>C (p.Ala303Pro)
c.901G>C (p.Ala301Pro)
n.3831G>C
n.3817G>C
15g.48756382C>TCA392343255CEP152c.2866G>A (p.Ala956Thr)
c.2587G>A (p.Ala863Thr)
c.907G>A (p.Ala303Thr)
c.901G>A (p.Ala301Thr)
n.3831G>A
n.3817G>A
15g.48756383C>ACA392343257CEP152c.2865G>T (p.Lys955Asn)
c.2586G>T (p.Lys862Asn)
c.906G>T (p.Lys302Asn)
c.900G>T (p.Lys300Asn)
n.3830G>T
n.3816G>T
15g.48756383C>GCA392343258CEP152c.2865G>C (p.Lys955Asn)
c.2586G>C (p.Lys862Asn)
c.906G>C (p.Lys302Asn)
c.900G>C (p.Lys300Asn)
n.3830G>C
n.3816G>C
15g.48756383C>TCA490311346CEP152c.2865G>A (p.Lys955=)
c.2586G>A (p.Lys862=)
c.906G>A (p.Lys302=)
c.900G>A (p.Lys300=)
n.3830G>A
n.3816G>A
15g.48756384T>ACA7548457CEP152c.2864A>T (p.Lys955Met)
c.2585A>T (p.Lys862Met)
c.905A>T (p.Lys302Met)
c.899A>T (p.Lys300Met)
n.3829A>T
n.3815A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756384T>CCA392343259CEP152c.2864A>G (p.Lys955Arg)
c.2585A>G (p.Lys862Arg)
c.905A>G (p.Lys302Arg)
c.899A>G (p.Lys300Arg)
n.3829A>G
n.3815A>G
15g.48756384T>GCA269538144CEP152c.2864A>C (p.Lys955Thr)
c.2585A>C (p.Lys862Thr)
c.905A>C (p.Lys302Thr)
c.899A>C (p.Lys300Thr)
n.3829A>C
n.3815A>C
 dbSNP gnomAD v4
15g.48756384T=CA2175629188CEP152c.2864A= (p.Lys955=)
c.2585A= (p.Lys862=)
c.905A= (p.Lys302=)
c.899A= (p.Lys300=)
n.3829A=
n.3815A=
15g.48756385T>ACA392343260CEP152c.2863A>T (p.Lys955Ter)
c.2584A>T (p.Lys862Ter)
c.904A>T (p.Lys302Ter)
c.898A>T (p.Lys300Ter)
n.3828A>T
n.3814A>T
15g.48756385T>CCA392343261CEP152c.2863A>G (p.Lys955Glu)
c.2584A>G (p.Lys862Glu)
c.904A>G (p.Lys302Glu)
c.898A>G (p.Lys300Glu)
n.3828A>G
n.3814A>G
15g.48756385T>GCA392343262CEP152c.2863A>C (p.Lys955Gln)
c.2584A>C (p.Lys862Gln)
c.904A>C (p.Lys302Gln)
c.898A>C (p.Lys300Gln)
n.3828A>C
n.3814A>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756385T=CA2175629194CEP152c.2863A= (p.Lys955=)
c.2584A= (p.Lys862=)
c.904A= (p.Lys302=)
c.898A= (p.Lys300=)
n.3828A=
n.3814A=
15g.48756385_48756388delinsTAGCCA2175629196CEP152c.2860_2863delinsGCTA (p.Ala954=)
c.2581_2584delinsGCTA (p.Ala861=)
c.901_904delinsGCTA (p.Ala301=)
c.895_898delinsGCTA (p.Ala299=)
n.3825_3828delinsGCTA
n.3811_3814delinsGCTA
15g.48756386A>CCA490311347CEP152c.2862T>G (p.Ala954=)
c.2583T>G (p.Ala861=)
c.903T>G (p.Ala301=)
c.897T>G (p.Ala299=)
n.3827T>G
n.3813T>G
15g.48756386A>GCA490311348CEP152c.2862T>C (p.Ala954=)
c.2583T>C (p.Ala861=)
c.903T>C (p.Ala301=)
c.897T>C (p.Ala299=)
n.3827T>C
n.3813T>C
 ClinVar
15g.48756386A>TCA490311349CEP152c.2862T>A (p.Ala954=)
c.2583T>A (p.Ala861=)
c.903T>A (p.Ala301=)
c.897T>A (p.Ala299=)
n.3827T>A
n.3813T>A
15g.48756386_48756388delCA7548458CEP152c.2860_2862del (p.Ala954del)
c.2581_2583del (p.Ala861del)
c.901_903del (p.Ala301del)
c.895_897del (p.Ala299del)
n.3825_3827del
n.3811_3813del
 dbSNP ExAC gnomAD v2
15g.48756387G>ACA392343263CEP152c.2861C>T (p.Ala954Val)
c.2582C>T (p.Ala861Val)
c.902C>T (p.Ala301Val)
c.896C>T (p.Ala299Val)
n.3826C>T
n.3812C>T
15g.48756387G>CCA392343264CEP152c.2861C>G (p.Ala954Gly)
c.2582C>G (p.Ala861Gly)
c.902C>G (p.Ala301Gly)
c.896C>G (p.Ala299Gly)
n.3826C>G
n.3812C>G
15g.48756387G>TCA392343265CEP152c.2861C>A (p.Ala954Asp)
c.2582C>A (p.Ala861Asp)
c.902C>A (p.Ala301Asp)
c.896C>A (p.Ala299Asp)
n.3826C>A
n.3812C>A
15g.48756388C>ACA392343268CEP152c.2860G>T (p.Ala954Ser)
c.2581G>T (p.Ala861Ser)
c.901G>T (p.Ala301Ser)
c.895G>T (p.Ala299Ser)
n.3825G>T
n.3811G>T
 gnomAD v4
15g.48756388C>GCA392343267CEP152c.2860G>C (p.Ala954Pro)
c.2581G>C (p.Ala861Pro)
c.901G>C (p.Ala301Pro)
c.895G>C (p.Ala299Pro)
n.3825G>C
n.3811G>C
15g.48756388C>TCA392343266CEP152c.2860G>A (p.Ala954Thr)
c.2581G>A (p.Ala861Thr)
c.901G>A (p.Ala301Thr)
c.895G>A (p.Ala299Thr)
n.3825G>A
n.3811G>A
15g.48756389T>ACA392343269CEP152c.2859A>T (p.Leu953Phe)
c.2580A>T (p.Leu860Phe)
c.900A>T (p.Leu300Phe)
c.894A>T (p.Leu298Phe)
n.3824A>T
n.3810A>T
15g.48756389T>CCA490311350CEP152c.2859A>G (p.Leu953=)
c.2580A>G (p.Leu860=)
c.900A>G (p.Leu300=)
c.894A>G (p.Leu298=)
n.3824A>G
n.3810A>G
15g.48756389T>GCA392343270CEP152c.2859A>C (p.Leu953Phe)
c.2580A>C (p.Leu860Phe)
c.900A>C (p.Leu300Phe)
c.894A>C (p.Leu298Phe)
n.3824A>C
n.3810A>C
15g.48756390A>CCA392343271CEP152c.2858T>G (p.Leu953Ter)
c.2579T>G (p.Leu860Ter)
c.899T>G (p.Leu300Ter)
c.893T>G (p.Leu298Ter)
n.3823T>G
n.3809T>G
15g.48756390A>GCA392343272CEP152c.2858T>C (p.Leu953Ser)
c.2579T>C (p.Leu860Ser)
c.899T>C (p.Leu300Ser)
c.893T>C (p.Leu298Ser)
n.3823T>C
n.3809T>C
 gnomAD v4
15g.48756390A>TCA392343273CEP152c.2858T>A (p.Leu953Ter)
c.2579T>A (p.Leu860Ter)
c.899T>A (p.Leu300Ter)
c.893T>A (p.Leu298Ter)
n.3823T>A
n.3809T>A
15g.48756391A=CA2175629203CEP152c.2857T= (p.Leu953=)
c.2578T= (p.Leu860=)
c.898T= (p.Leu300=)
c.892T= (p.Leu298=)
n.3822T=
n.3808T=
15g.48756391A>CCA392343274CEP152c.2857T>G (p.Leu953Val)
c.2578T>G (p.Leu860Val)
c.898T>G (p.Leu300Val)
c.892T>G (p.Leu298Val)
n.3822T>G
n.3808T>G
15g.48756391A>GCA7548459CEP152c.2857T>C (p.Leu953=)
c.2578T>C (p.Leu860=)
c.898T>C (p.Leu300=)
c.892T>C (p.Leu298=)
n.3822T>C
n.3808T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756391A>TCA392343275CEP152c.2857T>A (p.Leu953Ile)
c.2578T>A (p.Leu860Ile)
c.898T>A (p.Leu300Ile)
c.892T>A (p.Leu298Ile)
n.3822T>A
n.3808T>A
15g.48756392C>ACA392343277CEP152c.2856G>T (p.Glu952Asp)
c.2577G>T (p.Glu859Asp)
c.897G>T (p.Glu299Asp)
c.891G>T (p.Glu297Asp)
n.3821G>T
n.3807G>T
15g.48756392C>GCA392343276CEP152c.2856G>C (p.Glu952Asp)
c.2577G>C (p.Glu859Asp)
c.897G>C (p.Glu299Asp)
c.891G>C (p.Glu297Asp)
n.3821G>C
n.3807G>C
15g.48756392C>TCA490311351CEP152c.2856G>A (p.Glu952=)
c.2577G>A (p.Glu859=)
c.897G>A (p.Glu299=)
c.891G>A (p.Glu297=)
n.3821G>A
n.3807G>A
 gnomAD v4
15g.48756393T>ACA7548460CEP152c.2855A>T (p.Glu952Val)
c.2576A>T (p.Glu859Val)
c.896A>T (p.Glu299Val)
c.890A>T (p.Glu297Val)
n.3820A>T
n.3806A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756393T>CCA392343278CEP152c.2855A>G (p.Glu952Gly)
c.2576A>G (p.Glu859Gly)
c.896A>G (p.Glu299Gly)
c.890A>G (p.Glu297Gly)
n.3820A>G
n.3806A>G
15g.48756393T>GCA392343279CEP152c.2855A>C (p.Glu952Ala)
c.2576A>C (p.Glu859Ala)
c.896A>C (p.Glu299Ala)
c.890A>C (p.Glu297Ala)
n.3820A>C
n.3806A>C
15g.48756393T=CA2175629206CEP152c.2855A= (p.Glu952=)
c.2576A= (p.Glu859=)
c.896A= (p.Glu299=)
c.890A= (p.Glu297=)
n.3820A=
n.3806A=
15g.48756394C>ACA392343280CEP152c.2854G>T (p.Glu952Ter)
c.2575G>T (p.Glu859Ter)
c.895G>T (p.Glu299Ter)
c.889G>T (p.Glu297Ter)
n.3819G>T
n.3805G>T
15g.48756394C>GCA392343281CEP152c.2854G>C (p.Glu952Gln)
c.2575G>C (p.Glu859Gln)
c.895G>C (p.Glu299Gln)
c.889G>C (p.Glu297Gln)
n.3819G>C
n.3805G>C
15g.48756394C>TCA392343282CEP152c.2854G>A (p.Glu952Lys)
c.2575G>A (p.Glu859Lys)
c.895G>A (p.Glu299Lys)
c.889G>A (p.Glu297Lys)
n.3819G>A
n.3805G>A
 gnomAD v4
15g.48756395A>CCA490311352CEP152c.2853T>G (p.Ala951=)
c.2574T>G (p.Ala858=)
c.894T>G (p.Ala298=)
c.888T>G (p.Ala296=)
n.3818T>G
n.3804T>G
15g.48756395A>GCA490311353CEP152c.2853T>C (p.Ala951=)
c.2574T>C (p.Ala858=)
c.894T>C (p.Ala298=)
c.888T>C (p.Ala296=)
n.3818T>C
n.3804T>C
15g.48756395A>TCA490311354CEP152c.2853T>A (p.Ala951=)
c.2574T>A (p.Ala858=)
c.894T>A (p.Ala298=)
c.888T>A (p.Ala296=)
n.3818T>A
n.3804T>A
15g.48756396G>ACA392343283CEP152c.2852C>T (p.Ala951Val)
c.2573C>T (p.Ala858Val)
c.893C>T (p.Ala298Val)
c.887C>T (p.Ala296Val)
n.3817C>T
n.3803C>T
15g.48756396G>CCA392343285CEP152c.2852C>G (p.Ala951Gly)
c.2573C>G (p.Ala858Gly)
c.893C>G (p.Ala298Gly)
c.887C>G (p.Ala296Gly)
n.3817C>G
n.3803C>G
15g.48756396G>TCA392343284CEP152c.2852C>A (p.Ala951Asp)
c.2573C>A (p.Ala858Asp)
c.893C>A (p.Ala298Asp)
c.887C>A (p.Ala296Asp)
n.3817C>A
n.3803C>A
15g.48756397C>ACA392343286CEP152c.2851G>T (p.Ala951Ser)
c.2572G>T (p.Ala858Ser)
c.892G>T (p.Ala298Ser)
c.886G>T (p.Ala296Ser)
n.3816G>T
n.3802G>T
 gnomAD v4
15g.48756397C=CA2175629208CEP152c.2851G= (p.Ala951=)
c.2572G= (p.Ala858=)
c.892G= (p.Ala298=)
c.886G= (p.Ala296=)
n.3816G=
n.3802G=
15g.48756397C>GCA392343287CEP152c.2851G>C (p.Ala951Pro)
c.2572G>C (p.Ala858Pro)
c.892G>C (p.Ala298Pro)
c.886G>C (p.Ala296Pro)
n.3816G>C
n.3802G>C
15g.48756397C>TCA7548461CEP152c.2851G>A (p.Ala951Thr)
c.2572G>A (p.Ala858Thr)
c.892G>A (p.Ala298Thr)
c.886G>A (p.Ala296Thr)
n.3816G>A
n.3802G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756398C>ACA392343288CEP152c.2850G>T (p.Arg950Ser)
c.2571G>T (p.Arg857Ser)
c.891G>T (p.Arg297Ser)
c.885G>T (p.Arg295Ser)
n.3815G>T
n.3801G>T
15g.48756398C>GCA392343289CEP152c.2850G>C (p.Arg950Ser)
c.2571G>C (p.Arg857Ser)
c.891G>C (p.Arg297Ser)
c.885G>C (p.Arg295Ser)
n.3815G>C
n.3801G>C
15g.48756398C>TCA490311355CEP152c.2850G>A (p.Arg950=)
c.2571G>A (p.Arg857=)
c.891G>A (p.Arg297=)
c.885G>A (p.Arg295=)
n.3815G>A
n.3801G>A
 gnomAD v4
15g.48756399C>ACA7548462CEP152c.2849G>T (p.Arg950Met)
c.2570G>T (p.Arg857Met)
c.890G>T (p.Arg297Met)
c.884G>T (p.Arg295Met)
n.3814G>T
n.3800G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756399C=CA2175629211CEP152c.2849G= (p.Arg950=)
c.2570G= (p.Arg857=)
c.890G= (p.Arg297=)
c.884G= (p.Arg295=)
n.3814G=
n.3800G=
15g.48756399C>GCA392343290CEP152c.2849G>C (p.Arg950Thr)
c.2570G>C (p.Arg857Thr)
c.890G>C (p.Arg297Thr)
c.884G>C (p.Arg295Thr)
n.3814G>C
n.3800G>C
15g.48756399C>TCA392343291CEP152c.2849G>A (p.Arg950Lys)
c.2570G>A (p.Arg857Lys)
c.890G>A (p.Arg297Lys)
c.884G>A (p.Arg295Lys)
n.3814G>A
n.3800G>A
 dbSNP gnomAD v2 gnomAD v4
15g.48756400T>ACA392343292CEP152c.2848A>T (p.Arg950Trp)
c.2569A>T (p.Arg857Trp)
c.889A>T (p.Arg297Trp)
c.883A>T (p.Arg295Trp)
n.3813A>T
n.3799A>T
15g.48756400T>CCA392343293CEP152c.2848A>G (p.Arg950Gly)
c.2569A>G (p.Arg857Gly)
c.889A>G (p.Arg297Gly)
c.883A>G (p.Arg295Gly)
n.3813A>G
n.3799A>G
15g.48756400T>GCA490311358CEP152c.2848A>C (p.Arg950=)
c.2569A>C (p.Arg857=)
c.889A>C (p.Arg297=)
c.883A>C (p.Arg295=)
n.3813A>C
n.3799A>C
15g.48756401G>ACA490311359CEP152c.2847C>T (p.Ile949=)
c.2568C>T (p.Ile856=)
c.888C>T (p.Ile296=)
c.882C>T (p.Ile294=)
n.3812C>T
n.3798C>T
 dbSNP
15g.48756401G>CCA392343294CEP152c.2847C>G (p.Ile949Met)
c.2568C>G (p.Ile856Met)
c.888C>G (p.Ile296Met)
c.882C>G (p.Ile294Met)
n.3812C>G
n.3798C>G
15g.48756401G>TCA490311360CEP152c.2847C>A (p.Ile949=)
c.2568C>A (p.Ile856=)
c.888C>A (p.Ile296=)
c.882C>A (p.Ile294=)
n.3812C>A
n.3798C>A
15g.48756402A>CCA392343295CEP152c.2846T>G (p.Ile949Ser)
c.2567T>G (p.Ile856Ser)
c.887T>G (p.Ile296Ser)
c.881T>G (p.Ile294Ser)
n.3811T>G
n.3797T>G
15g.48756402A>GCA392343297CEP152c.2846T>C (p.Ile949Thr)
c.2567T>C (p.Ile856Thr)
c.887T>C (p.Ile296Thr)
c.881T>C (p.Ile294Thr)
n.3811T>C
n.3797T>C
15g.48756402A>TCA392343296CEP152c.2846T>A (p.Ile949Asn)
c.2567T>A (p.Ile856Asn)
c.887T>A (p.Ile296Asn)
c.881T>A (p.Ile294Asn)
n.3811T>A
n.3797T>A
15g.48756403T>ACA392343298CEP152c.2845A>T (p.Ile949Phe)
c.2566A>T (p.Ile856Phe)
c.886A>T (p.Ile296Phe)
c.880A>T (p.Ile294Phe)
n.3810A>T
n.3796A>T
 dbSNP gnomAD v4
15g.48756403T>CCA392343299CEP152c.2845A>G (p.Ile949Val)
c.2566A>G (p.Ile856Val)
c.886A>G (p.Ile296Val)
c.880A>G (p.Ile294Val)
n.3810A>G
n.3796A>G
15g.48756403T>GCA392343300CEP152c.2845A>C (p.Ile949Leu)
c.2566A>C (p.Ile856Leu)
c.886A>C (p.Ile296Leu)
c.880A>C (p.Ile294Leu)
n.3810A>C
n.3796A>C
15g.48756403T=CA2175629214CEP152c.2845A= (p.Ile949=)
c.2566A= (p.Ile856=)
c.886A= (p.Ile296=)
c.880A= (p.Ile294=)
n.3810A=
n.3796A=
15g.48756404G>ACA490311361CEP152c.2844C>T (p.Val948=)
c.2565C>T (p.Val855=)
c.885C>T (p.Val295=)
c.879C>T (p.Val293=)
n.3809C>T
n.3795C>T
15g.48756404G>CCA490311362CEP152c.2844C>G (p.Val948=)
c.2565C>G (p.Val855=)
c.885C>G (p.Val295=)
c.879C>G (p.Val293=)
n.3809C>G
n.3795C>G
15g.48756404G>TCA490311363CEP152c.2844C>A (p.Val948=)
c.2565C>A (p.Val855=)
c.885C>A (p.Val295=)
c.879C>A (p.Val293=)
n.3809C>A
n.3795C>A
 gnomAD v4 COSMIC COSMIC
15g.48756405A>CCA392343301CEP152c.2843T>G (p.Val948Gly)
c.2564T>G (p.Val855Gly)
c.884T>G (p.Val295Gly)
c.878T>G (p.Val293Gly)
n.3808T>G
n.3794T>G
15g.48756405A>GCA392343302CEP152c.2843T>C (p.Val948Ala)
c.2564T>C (p.Val855Ala)
c.884T>C (p.Val295Ala)
c.878T>C (p.Val293Ala)
n.3808T>C
n.3794T>C
15g.48756405A>TCA392343303CEP152c.2843T>A (p.Val948Asp)
c.2564T>A (p.Val855Asp)
c.884T>A (p.Val295Asp)
c.878T>A (p.Val293Asp)
n.3808T>A
n.3794T>A
15g.48756406C>ACA392343304CEP152c.2842G>T (p.Val948Phe)
c.2563G>T (p.Val855Phe)
c.883G>T (p.Val295Phe)
c.877G>T (p.Val293Phe)
n.3807G>T
n.3793G>T
15g.48756406C=CA2175629218CEP152c.2842G= (p.Val948=)
c.2563G= (p.Val855=)
c.883G= (p.Val295=)
c.877G= (p.Val293=)
n.3807G=
n.3793G=
15g.48756406C>GCA7548463CEP152c.2842G>C (p.Val948Leu)
c.2563G>C (p.Val855Leu)
c.883G>C (p.Val295Leu)
c.877G>C (p.Val293Leu)
n.3807G>C
n.3793G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756406C>TCA392343305CEP152c.2842G>A (p.Val948Ile)
c.2563G>A (p.Val855Ile)
c.883G>A (p.Val295Ile)
c.877G>A (p.Val293Ile)
n.3807G>A
n.3793G>A
 dbSNP
15g.48756407C>ACA490311365CEP152c.2841G>T (p.Val947=)
c.2562G>T (p.Val854=)
c.882G>T (p.Val294=)
c.876G>T (p.Val292=)
n.3806G>T
n.3792G>T
15g.48756407C=CA2175629223CEP152c.2841G= (p.Val947=)
c.2562G= (p.Val854=)
c.882G= (p.Val294=)
c.876G= (p.Val292=)
n.3806G=
n.3792G=
15g.48756407C>GCA490311364CEP152c.2841G>C (p.Val947=)
c.2562G>C (p.Val854=)
c.882G>C (p.Val294=)
c.876G>C (p.Val292=)
n.3806G>C
n.3792G>C
15g.48756407C>TCA7548464CEP152c.2841G>A (p.Val947=)
c.2562G>A (p.Val854=)
c.882G>A (p.Val294=)
c.876G>A (p.Val292=)
n.3806G>A
n.3792G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756409_48756410dupCA2628343513CEP152c.2840_2841dup (p.Val948TrpfsTer7)
c.2561_2562dup (p.Val855TrpfsTer7)
c.881_882dup (p.Val295TrpfsTer7)
c.875_876dup (p.Val293TrpfsTer7)
n.3805_3806dup
n.3791_3792dup
 gnomAD v4
15g.48756408A>CCA392343306CEP152c.2840T>G (p.Val947Gly)
c.2561T>G (p.Val854Gly)
c.881T>G (p.Val294Gly)
c.875T>G (p.Val292Gly)
n.3805T>G
n.3791T>G
15g.48756408A>GCA392343307CEP152c.2840T>C (p.Val947Ala)
c.2561T>C (p.Val854Ala)
c.881T>C (p.Val294Ala)
c.875T>C (p.Val292Ala)
n.3805T>C
n.3791T>C
15g.48756408A>TCA392343308CEP152c.2840T>A (p.Val947Glu)
c.2561T>A (p.Val854Glu)
c.881T>A (p.Val294Glu)
c.875T>A (p.Val292Glu)
n.3805T>A
n.3791T>A
15g.48756409C>ACA392343309CEP152c.2839G>T (p.Val947Leu)
c.2560G>T (p.Val854Leu)
c.880G>T (p.Val294Leu)
c.874G>T (p.Val292Leu)
n.3804G>T
n.3790G>T
15g.48756409C>GCA392343311CEP152c.2839G>C (p.Val947Leu)
c.2560G>C (p.Val854Leu)
c.880G>C (p.Val294Leu)
c.874G>C (p.Val292Leu)
n.3804G>C
n.3790G>C
15g.48756409C>TCA392343310CEP152c.2839G>A (p.Val947Met)
c.2560G>A (p.Val854Met)
c.880G>A (p.Val294Met)
c.874G>A (p.Val292Met)
n.3804G>A
n.3790G>A
15g.48756410A>CCA490311368CEP152c.2838T>G (p.Pro946=)
c.2559T>G (p.Pro853=)
c.879T>G (p.Pro293=)
c.873T>G (p.Pro291=)
n.3803T>G
n.3789T>G
15g.48756410A>GCA490311367CEP152c.2838T>C (p.Pro946=)
c.2559T>C (p.Pro853=)
c.879T>C (p.Pro293=)
c.873T>C (p.Pro291=)
n.3803T>C
n.3789T>C
15g.48756410A>TCA490311366CEP152c.2838T>A (p.Pro946=)
c.2559T>A (p.Pro853=)
c.879T>A (p.Pro293=)
c.873T>A (p.Pro291=)
n.3803T>A
n.3789T>A
15g.48756411G>ACA392343312CEP152c.2837C>T (p.Pro946Leu)
c.2558C>T (p.Pro853Leu)
c.878C>T (p.Pro293Leu)
c.872C>T (p.Pro291Leu)
n.3802C>T
n.3788C>T
15g.48756411G>CCA392343313CEP152c.2837C>G (p.Pro946Arg)
c.2558C>G (p.Pro853Arg)
c.878C>G (p.Pro293Arg)
c.872C>G (p.Pro291Arg)
n.3802C>G
n.3788C>G
15g.48756411G>TCA392343314CEP152c.2837C>A (p.Pro946His)
c.2558C>A (p.Pro853His)
c.878C>A (p.Pro293His)
c.872C>A (p.Pro291His)
n.3802C>A
n.3788C>A
15g.48756412G>ACA392343315CEP152c.2836C>T (p.Pro946Ser)
c.2557C>T (p.Pro853Ser)
c.877C>T (p.Pro293Ser)
c.871C>T (p.Pro291Ser)
n.3801C>T
n.3787C>T
15g.48756412G>CCA7548465CEP152c.2836C>G (p.Pro946Ala)
c.2557C>G (p.Pro853Ala)
c.877C>G (p.Pro293Ala)
c.871C>G (p.Pro291Ala)
n.3801C>G
n.3787C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756412G=CA2175629226CEP152c.2836C= (p.Pro946=)
c.2557C= (p.Pro853=)
c.877C= (p.Pro293=)
c.871C= (p.Pro291=)
n.3801C=
n.3787C=
15g.48756412G>TCA392343316CEP152c.2836C>A (p.Pro946Thr)
c.2557C>A (p.Pro853Thr)
c.877C>A (p.Pro293Thr)
c.871C>A (p.Pro291Thr)
n.3801C>A
n.3787C>A
15g.48756413G>ACA490311371CEP152c.2835C>T (p.Val945=)
c.2556C>T (p.Val852=)
c.876C>T (p.Val292=)
c.870C>T (p.Val290=)
n.3800C>T
n.3786C>T
15g.48756413G>CCA490311369CEP152c.2835C>G (p.Val945=)
c.2556C>G (p.Val852=)
c.876C>G (p.Val292=)
c.870C>G (p.Val290=)
n.3800C>G
n.3786C>G
 ClinVar dbSNP gnomAD v4
15g.48756413G=CA2175629230CEP152c.2835C= (p.Val945=)
c.2556C= (p.Val852=)
c.876C= (p.Val292=)
c.870C= (p.Val290=)
n.3800C=
n.3786C=
15g.48756413G>TCA490311370CEP152c.2835C>A (p.Val945=)
c.2556C>A (p.Val852=)
c.876C>A (p.Val292=)
c.870C>A (p.Val290=)
n.3800C>A
n.3786C>A
15g.48756414A>CCA392343317CEP152c.2834T>G (p.Val945Gly)
c.2555T>G (p.Val852Gly)
c.875T>G (p.Val292Gly)
c.869T>G (p.Val290Gly)
n.3799T>G
n.3785T>G
15g.48756414A>GCA392343318CEP152c.2834T>C (p.Val945Ala)
c.2555T>C (p.Val852Ala)
c.875T>C (p.Val292Ala)
c.869T>C (p.Val290Ala)
n.3799T>C
n.3785T>C
15g.48756414A>TCA392343319CEP152c.2834T>A (p.Val945Asp)
c.2555T>A (p.Val852Asp)
c.875T>A (p.Val292Asp)
c.869T>A (p.Val290Asp)
n.3799T>A
n.3785T>A
 gnomAD v4
15g.48756414_48756417delinsACTTCA2175629232CEP152c.2831_2834delinsAAGT (p.Glu944=)
c.2552_2555delinsAAGT (p.Glu851=)
c.872_875delinsAAGT (p.Glu291=)
c.866_869delinsAAGT (p.Glu289=)
n.3796_3799delinsAAGT
n.3782_3785delinsAAGT
15g.48756415C>ACA392343322CEP152c.2833G>T (p.Val945Phe)
c.2554G>T (p.Val852Phe)
c.874G>T (p.Val292Phe)
c.868G>T (p.Val290Phe)
n.3798G>T
n.3784G>T
15g.48756415C>GCA392343320CEP152c.2833G>C (p.Val945Leu)
c.2554G>C (p.Val852Leu)
c.874G>C (p.Val292Leu)
c.868G>C (p.Val290Leu)
n.3798G>C
n.3784G>C
15g.48756415C>TCA392343321CEP152c.2833G>A (p.Val945Ile)
c.2554G>A (p.Val852Ile)
c.874G>A (p.Val292Ile)
c.868G>A (p.Val290Ile)
n.3798G>A
n.3784G>A
15g.48756419_48756421delCA7548466CEP152c.2831_2833del (p.Glu944del)
c.2552_2554del (p.Glu851del)
c.872_874del (p.Glu291del)
c.866_868del (p.Glu289del)
n.3796_3798del
n.3782_3784del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756416T>ACA392343323CEP152c.2832A>T (p.Glu944Asp)
c.2553A>T (p.Glu851Asp)
c.873A>T (p.Glu291Asp)
c.867A>T (p.Glu289Asp)
n.3797A>T
n.3783A>T
15g.48756416T>CCA490311372CEP152c.2832A>G (p.Glu944=)
c.2553A>G (p.Glu851=)
c.873A>G (p.Glu291=)
c.867A>G (p.Glu289=)
n.3797A>G
n.3783A>G
 gnomAD v4
15g.48756416T>GCA392343324CEP152c.2832A>C (p.Glu944Asp)
c.2553A>C (p.Glu851Asp)
c.873A>C (p.Glu291Asp)
c.867A>C (p.Glu289Asp)
n.3797A>C
n.3783A>C
15g.48756417T>ACA392343325CEP152c.2831A>T (p.Glu944Val)
c.2552A>T (p.Glu851Val)
c.872A>T (p.Glu291Val)
c.866A>T (p.Glu289Val)
n.3796A>T
n.3782A>T
15g.48756417T>CCA392343326CEP152c.2831A>G (p.Glu944Gly)
c.2552A>G (p.Glu851Gly)
c.872A>G (p.Glu291Gly)
c.866A>G (p.Glu289Gly)
n.3796A>G
n.3782A>G
15g.48756417T>GCA392343327CEP152c.2831A>C (p.Glu944Ala)
c.2552A>C (p.Glu851Ala)
c.872A>C (p.Glu291Ala)
c.866A>C (p.Glu289Ala)
n.3796A>C
n.3782A>C
 dbSNP gnomAD v4
15g.48756417T=CA2175629237CEP152c.2831A= (p.Glu944=)
c.2552A= (p.Glu851=)
c.872A= (p.Glu291=)
c.866A= (p.Glu289=)
n.3796A=
n.3782A=
15g.48756418C>ACA392343328CEP152c.2830G>T (p.Glu944Ter)
c.2551G>T (p.Glu851Ter)
c.871G>T (p.Glu291Ter)
c.865G>T (p.Glu289Ter)
n.3795G>T
n.3781G>T
15g.48756418C=CA2175629240CEP152c.2830G= (p.Glu944=)
c.2551G= (p.Glu851=)
c.871G= (p.Glu291=)
c.865G= (p.Glu289=)
n.3795G=
n.3781G=
15g.48756418C>GCA392343329CEP152c.2830G>C (p.Glu944Gln)
c.2551G>C (p.Glu851Gln)
c.871G>C (p.Glu291Gln)
c.865G>C (p.Glu289Gln)
n.3795G>C
n.3781G>C
15g.48756418C>TCA392343330CEP152c.2830G>A (p.Glu944Lys)
c.2551G>A (p.Glu851Lys)
c.871G>A (p.Glu291Lys)
c.865G>A (p.Glu289Lys)
n.3795G>A
n.3781G>A
 dbSNP gnomAD v2 gnomAD v4
15g.48756419T>ACA392343331CEP152c.2829A>T (p.Glu943Asp)
c.2550A>T (p.Glu850Asp)
c.870A>T (p.Glu290Asp)
c.864A>T (p.Glu288Asp)
n.3794A>T
n.3780A>T
15g.48756419T>CCA490311373CEP152c.2829A>G (p.Glu943=)
c.2550A>G (p.Glu850=)
c.870A>G (p.Glu290=)
c.864A>G (p.Glu288=)
n.3794A>G
n.3780A>G
 gnomAD v4
15g.48756419T>GCA392343332CEP152c.2829A>C (p.Glu943Asp)
c.2550A>C (p.Glu850Asp)
c.870A>C (p.Glu290Asp)
c.864A>C (p.Glu288Asp)
n.3794A>C
n.3780A>C
15g.48756420T>ACA392343333CEP152c.2828A>T (p.Glu943Val)
c.2549A>T (p.Glu850Val)
c.869A>T (p.Glu290Val)
c.863A>T (p.Glu288Val)
n.3793A>T
n.3779A>T
15g.48756420T>CCA7548467CEP152c.2828A>G (p.Glu943Gly)
c.2549A>G (p.Glu850Gly)
c.869A>G (p.Glu290Gly)
c.863A>G (p.Glu288Gly)
n.3793A>G
n.3779A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756420T>GCA392343334CEP152c.2828A>C (p.Glu943Ala)
c.2549A>C (p.Glu850Ala)
c.869A>C (p.Glu290Ala)
c.863A>C (p.Glu288Ala)
n.3793A>C
n.3779A>C
 COSMIC COSMIC
15g.48756420T=CA2175629244CEP152c.2828A= (p.Glu943=)
c.2549A= (p.Glu850=)
c.869A= (p.Glu290=)
c.863A= (p.Glu288=)
n.3793A=
n.3779A=
15g.48756421C>ACA392343336CEP152c.2827G>T (p.Glu943Ter)
c.2548G>T (p.Glu850Ter)
c.868G>T (p.Glu290Ter)
c.862G>T (p.Glu288Ter)
n.3792G>T
n.3778G>T
15g.48756421C=CA2175629251CEP152c.2827G= (p.Glu943=)
c.2548G= (p.Glu850=)
c.868G= (p.Glu290=)
c.862G= (p.Glu288=)
n.3792G=
n.3778G=
15g.48756421C>GCA392343335CEP152c.2827G>C (p.Glu943Gln)
c.2548G>C (p.Glu850Gln)
c.868G>C (p.Glu290Gln)
c.862G>C (p.Glu288Gln)
n.3792G>C
n.3778G>C
15g.48756421C>TCA211041CEP152c.2827G>A (p.Glu943Lys)
c.2548G>A (p.Glu850Lys)
c.868G>A (p.Glu290Lys)
c.862G>A (p.Glu288Lys)
n.3792G>A
n.3778G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756422G>ACA7548468CEP152c.2826C>T (p.Asn942=)
c.2547C>T (p.Asn849=)
c.867C>T (p.Asn289=)
c.861C>T (p.Asn287=)
n.3791C>T
n.3777C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756422G>CCA392343337CEP152c.2826C>G (p.Asn942Lys)
c.2547C>G (p.Asn849Lys)
c.867C>G (p.Asn289Lys)
c.861C>G (p.Asn287Lys)
n.3791C>G
n.3777C>G
15g.48756422G=CA2175629261CEP152c.2826C= (p.Asn942=)
c.2547C= (p.Asn849=)
c.867C= (p.Asn289=)
c.861C= (p.Asn287=)
n.3791C=
n.3777C=
15g.48756422G>TCA269538211CEP152c.2826C>A (p.Asn942Lys)
c.2547C>A (p.Asn849Lys)
c.867C>A (p.Asn289Lys)
c.861C>A (p.Asn287Lys)
n.3791C>A
n.3777C>A
 dbSNP gnomAD v2 gnomAD v4
15g.48756423T>ACA392343338CEP152c.2825A>T (p.Asn942Ile)
c.2546A>T (p.Asn849Ile)
c.866A>T (p.Asn289Ile)
c.860A>T (p.Asn287Ile)
n.3790A>T
n.3776A>T
15g.48756423T>CCA392343339CEP152c.2825A>G (p.Asn942Ser)
c.2546A>G (p.Asn849Ser)
c.866A>G (p.Asn289Ser)
c.860A>G (p.Asn287Ser)
n.3790A>G
n.3776A>G
15g.48756423T>GCA7548469CEP152c.2825A>C (p.Asn942Thr)
c.2546A>C (p.Asn849Thr)
c.866A>C (p.Asn289Thr)
c.860A>C (p.Asn287Thr)
n.3790A>C
n.3776A>C
 dbSNP ExAC gnomAD v2
15g.48756423T=CA2175629267CEP152c.2825A= (p.Asn942=)
c.2546A= (p.Asn849=)
c.866A= (p.Asn289=)
c.860A= (p.Asn287=)
n.3790A=
n.3776A=
15g.48756424T>ACA392343340CEP152c.2824A>T (p.Asn942Tyr)
c.2545A>T (p.Asn849Tyr)
c.865A>T (p.Asn289Tyr)
c.859A>T (p.Asn287Tyr)
n.3789A>T
n.3775A>T
15g.48756424T>CCA392343341CEP152c.2824A>G (p.Asn942Asp)
c.2545A>G (p.Asn849Asp)
c.865A>G (p.Asn289Asp)
c.859A>G (p.Asn287Asp)
n.3789A>G
n.3775A>G
15g.48756424T>GCA392343342CEP152c.2824A>C (p.Asn942His)
c.2545A>C (p.Asn849His)
c.865A>C (p.Asn289His)
c.859A>C (p.Asn287His)
n.3789A>C
n.3775A>C
15g.48756425C>ACA392343343CEP152c.2823G>T (p.Lys941Asn)
c.2544G>T (p.Lys848Asn)
c.864G>T (p.Lys288Asn)
c.858G>T (p.Lys286Asn)
n.3788G>T
n.3774G>T
 dbSNP gnomAD v3 gnomAD v4
15g.48756425C=CA2175629269CEP152c.2823G= (p.Lys941=)
c.2544G= (p.Lys848=)
c.864G= (p.Lys288=)
c.858G= (p.Lys286=)
n.3788G=
n.3774G=
15g.48756425C>GCA392343344CEP152c.2823G>C (p.Lys941Asn)
c.2544G>C (p.Lys848Asn)
c.864G>C (p.Lys288Asn)
c.858G>C (p.Lys286Asn)
n.3788G>C
n.3774G>C
15g.48756425C>TCA490311374CEP152c.2823G>A (p.Lys941=)
c.2544G>A (p.Lys848=)
c.864G>A (p.Lys288=)
c.858G>A (p.Lys286=)
n.3788G>A
n.3774G>A
15g.48756426T>ACA392343346CEP152c.2822A>T (p.Lys941Met)
c.2543A>T (p.Lys848Met)
c.863A>T (p.Lys288Met)
c.857A>T (p.Lys286Met)
n.3787A>T
n.3773A>T
15g.48756426T>CCA392343347CEP152c.2822A>G (p.Lys941Arg)
c.2543A>G (p.Lys848Arg)
c.863A>G (p.Lys288Arg)
c.857A>G (p.Lys286Arg)
n.3787A>G
n.3773A>G
15g.48756426T>GCA392343345CEP152c.2822A>C (p.Lys941Thr)
c.2543A>C (p.Lys848Thr)
c.863A>C (p.Lys288Thr)
c.857A>C (p.Lys286Thr)
n.3787A>C
n.3773A>C
15g.48756427T>ACA392343348CEP152c.2821A>T (p.Lys941Ter)
c.2542A>T (p.Lys848Ter)
c.862A>T (p.Lys288Ter)
c.856A>T (p.Lys286Ter)
n.3786A>T
n.3772A>T
15g.48756427T>CCA392343349CEP152c.2821A>G (p.Lys941Glu)
c.2542A>G (p.Lys848Glu)
c.862A>G (p.Lys288Glu)
c.856A>G (p.Lys286Glu)
n.3786A>G
n.3772A>G
15g.48756427T>GCA392343350CEP152c.2821A>C (p.Lys941Gln)
c.2542A>C (p.Lys848Gln)
c.862A>C (p.Lys288Gln)
c.856A>C (p.Lys286Gln)
n.3786A>C
n.3772A>C
 COSMIC
15g.48756428T>ACA392343351CEP152c.2820A>T (p.Leu940Phe)
c.2541A>T (p.Leu847Phe)
c.861A>T (p.Leu287Phe)
c.855A>T (p.Leu285Phe)
n.3785A>T
n.3771A>T
15g.48756428T>CCA490311375CEP152c.2820A>G (p.Leu940=)
c.2541A>G (p.Leu847=)
c.861A>G (p.Leu287=)
c.855A>G (p.Leu285=)
n.3785A>G
n.3771A>G
 dbSNP gnomAD v4
15g.48756428T>GCA392343352CEP152c.2820A>C (p.Leu940Phe)
c.2541A>C (p.Leu847Phe)
c.861A>C (p.Leu287Phe)
c.855A>C (p.Leu285Phe)
n.3785A>C
n.3771A>C
15g.48756428T=CA2175629272CEP152c.2820A= (p.Leu940=)
c.2541A= (p.Leu847=)
c.861A= (p.Leu287=)
c.855A= (p.Leu285=)
n.3785A=
n.3771A=
15g.48756429A>CCA392343353CEP152c.2819T>G (p.Leu940Ter)
c.2540T>G (p.Leu847Ter)
c.860T>G (p.Leu287Ter)
c.854T>G (p.Leu285Ter)
n.3784T>G
n.3770T>G
15g.48756429A>GCA392343354CEP152c.2819T>C (p.Leu940Ser)
c.2540T>C (p.Leu847Ser)
c.860T>C (p.Leu287Ser)
c.854T>C (p.Leu285Ser)
n.3784T>C
n.3770T>C
15g.48756429A>TCA392343355CEP152c.2819T>A (p.Leu940Ter)
c.2540T>A (p.Leu847Ter)
c.860T>A (p.Leu287Ter)
c.854T>A (p.Leu285Ter)
n.3784T>A
n.3770T>A

Number of alleles fetched