Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.71392582C>ACA413524331TAF1c.2081C>A (p.Pro694His)
c.2795C>A (p.Pro932His)
c.2376C>A
c.2732C>A (p.Pro911His)
c.2855C>A (p.Pro952His)
c.2792C>A (p.Pro931His)
n.2931C>A
c.2474C>A (p.Pro825His)
n.2865C>A
n.2813C>A
Xg.71392582C>GCA413524336TAF1c.2081C>G (p.Pro694Arg)
c.2795C>G (p.Pro932Arg)
c.2376C>G
c.2732C>G (p.Pro911Arg)
c.2855C>G (p.Pro952Arg)
c.2792C>G (p.Pro931Arg)
n.2931C>G
c.2474C>G (p.Pro825Arg)
n.2865C>G
n.2813C>G
Xg.71392582C>TCA413524341TAF1c.2081C>T (p.Pro694Leu)
c.2795C>T (p.Pro932Leu)
c.2376C>T
c.2732C>T (p.Pro911Leu)
c.2855C>T (p.Pro952Leu)
c.2792C>T (p.Pro931Leu)
n.2931C>T
c.2474C>T (p.Pro825Leu)
n.2865C>T
n.2813C>T
Xg.71392583T>ACA516727836TAF1c.2082T>A (p.Pro694=)
c.2796T>A (p.Pro932=)
c.2377T>A
c.2733T>A (p.Pro911=)
c.2856T>A (p.Pro952=)
c.2793T>A (p.Pro931=)
n.2932T>A
c.2475T>A (p.Pro825=)
n.2866T>A
n.2814T>A
Xg.71392583T>CCA516727837TAF1c.2082T>C (p.Pro694=)
c.2796T>C (p.Pro932=)
c.2377T>C
c.2733T>C (p.Pro911=)
c.2856T>C (p.Pro952=)
c.2793T>C (p.Pro931=)
n.2932T>C
c.2475T>C (p.Pro825=)
n.2866T>C
n.2814T>C
gnomAD v4
Xg.71392583T>GCA516727838TAF1c.2082T>G (p.Pro694=)
c.2796T>G (p.Pro932=)
c.2377T>G
c.2733T>G (p.Pro911=)
c.2856T>G (p.Pro952=)
c.2793T>G (p.Pro931=)
n.2932T>G
c.2475T>G (p.Pro825=)
n.2866T>G
n.2814T>G
Xg.71392584T>ACA413524344TAF1c.2083T>A (p.Trp695Arg)
c.2797T>A (p.Trp933Arg)
c.2378T>A
c.2734T>A (p.Trp912Arg)
c.2857T>A (p.Trp953Arg)
c.2794T>A (p.Trp932Arg)
n.2933T>A
c.2476T>A (p.Trp826Arg)
n.2867T>A
n.2815T>A
Xg.71392584T>CCA413524370TAF1c.2083T>C (p.Trp695Arg)
c.2797T>C (p.Trp933Arg)
c.2378T>C
c.2734T>C (p.Trp912Arg)
c.2857T>C (p.Trp953Arg)
c.2794T>C (p.Trp932Arg)
n.2933T>C
c.2476T>C (p.Trp826Arg)
n.2867T>C
n.2815T>C
gnomAD v4
Xg.71392584T>GCA413524363TAF1c.2083T>G (p.Trp695Gly)
c.2797T>G (p.Trp933Gly)
c.2378T>G
c.2734T>G (p.Trp912Gly)
c.2857T>G (p.Trp953Gly)
c.2794T>G (p.Trp932Gly)
n.2933T>G
c.2476T>G (p.Trp826Gly)
n.2867T>G
n.2815T>G
Xg.71392585G>ACA413524374TAF1c.2084G>A (p.Trp695Ter)
c.2798G>A (p.Trp933Ter)
c.2379G>A
c.2735G>A (p.Trp912Ter)
c.2858G>A (p.Trp953Ter)
c.2795G>A (p.Trp932Ter)
n.2934G>A
c.2477G>A (p.Trp826Ter)
n.2868G>A
n.2816G>A
Xg.71392585G>CCA413524376TAF1c.2084G>C (p.Trp695Ser)
c.2798G>C (p.Trp933Ser)
c.2379G>C
c.2735G>C (p.Trp912Ser)
c.2858G>C (p.Trp953Ser)
c.2795G>C (p.Trp932Ser)
n.2934G>C
c.2477G>C (p.Trp826Ser)
n.2868G>C
n.2816G>C
Xg.71392585G>TCA413524380TAF1c.2084G>T (p.Trp695Leu)
c.2798G>T (p.Trp933Leu)
c.2379G>T
c.2735G>T (p.Trp912Leu)
c.2858G>T (p.Trp953Leu)
c.2795G>T (p.Trp932Leu)
n.2934G>T
c.2477G>T (p.Trp826Leu)
n.2868G>T
n.2816G>T
Xg.71392586G>ACA413524385TAF1c.2085G>A (p.Trp695Ter)
c.2799G>A (p.Trp933Ter)
c.2380G>A
c.2736G>A (p.Trp912Ter)
c.2859G>A (p.Trp953Ter)
c.2796G>A (p.Trp932Ter)
n.2935G>A
c.2478G>A (p.Trp826Ter)
n.2869G>A
n.2817G>A
Xg.71392586G>CCA413524387TAF1c.2085G>C (p.Trp695Cys)
c.2799G>C (p.Trp933Cys)
c.2380G>C
c.2736G>C (p.Trp912Cys)
c.2859G>C (p.Trp953Cys)
c.2796G>C (p.Trp932Cys)
n.2935G>C
c.2478G>C (p.Trp826Cys)
n.2869G>C
n.2817G>C
Xg.71392586G>TCA413524389TAF1c.2085G>T (p.Trp695Cys)
c.2799G>T (p.Trp933Cys)
c.2380G>T
c.2736G>T (p.Trp912Cys)
c.2859G>T (p.Trp953Cys)
c.2796G>T (p.Trp932Cys)
n.2935G>T
c.2478G>T (p.Trp826Cys)
n.2869G>T
n.2817G>T
COSMIC COSMIC COSMIC
Xg.71392587A>CCA413524401TAF1c.2086A>C (p.Asn696His)
c.2800A>C (p.Asn934His)
c.2381A>C
c.2737A>C (p.Asn913His)
c.2860A>C (p.Asn954His)
c.2797A>C (p.Asn933His)
n.2936A>C
c.2479A>C (p.Asn827His)
n.2870A>C
n.2818A>C
Xg.71392587A>GCA413524392TAF1c.2086A>G (p.Asn696Asp)
c.2800A>G (p.Asn934Asp)
c.2381A>G
c.2737A>G (p.Asn913Asp)
c.2860A>G (p.Asn954Asp)
c.2797A>G (p.Asn933Asp)
n.2936A>G
c.2479A>G (p.Asn827Asp)
n.2870A>G
n.2818A>G
Xg.71392587A>TCA413524399TAF1c.2086A>T (p.Asn696Tyr)
c.2800A>T (p.Asn934Tyr)
c.2381A>T
c.2737A>T (p.Asn913Tyr)
c.2860A>T (p.Asn954Tyr)
c.2797A>T (p.Asn933Tyr)
n.2936A>T
c.2479A>T (p.Asn827Tyr)
n.2870A>T
n.2818A>T
Xg.71392588A>CCA413524404TAF1c.2087A>C (p.Asn696Thr)
c.2801A>C (p.Asn934Thr)
c.2382A>C
c.2738A>C (p.Asn913Thr)
c.2861A>C (p.Asn954Thr)
c.2798A>C (p.Asn933Thr)
n.2937A>C
c.2480A>C (p.Asn827Thr)
n.2871A>C
n.2819A>C
Xg.71392588A>GCA413524405TAF1c.2087A>G (p.Asn696Ser)
c.2801A>G (p.Asn934Ser)
c.2382A>G
c.2738A>G (p.Asn913Ser)
c.2861A>G (p.Asn954Ser)
c.2798A>G (p.Asn933Ser)
n.2937A>G
c.2480A>G (p.Asn827Ser)
n.2871A>G
n.2819A>G
Xg.71392588A>TCA413524406TAF1c.2087A>T (p.Asn696Ile)
c.2801A>T (p.Asn934Ile)
c.2382A>T
c.2738A>T (p.Asn913Ile)
c.2861A>T (p.Asn954Ile)
c.2798A>T (p.Asn933Ile)
n.2937A>T
c.2480A>T (p.Asn827Ile)
n.2871A>T
n.2819A>T
Xg.71392589C>ACA413524407TAF1c.2088C>A (p.Asn696Lys)
c.2802C>A (p.Asn934Lys)
c.2383C>A
c.2739C>A (p.Asn913Lys)
c.2862C>A (p.Asn954Lys)
c.2799C>A (p.Asn933Lys)
n.2938C>A
c.2481C>A (p.Asn827Lys)
n.2872C>A
n.2820C>A
gnomAD v4
Xg.71392589C>GCA413524408TAF1c.2088C>G (p.Asn696Lys)
c.2802C>G (p.Asn934Lys)
c.2383C>G
c.2739C>G (p.Asn913Lys)
c.2862C>G (p.Asn954Lys)
c.2799C>G (p.Asn933Lys)
n.2938C>G
c.2481C>G (p.Asn827Lys)
n.2872C>G
n.2820C>G
Xg.71392589C>TCA516727839TAF1c.2088C>T (p.Asn696=)
c.2802C>T (p.Asn934=)
c.2383C>T
c.2739C>T (p.Asn913=)
c.2862C>T (p.Asn954=)
c.2799C>T (p.Asn933=)
n.2938C>T
c.2481C>T (p.Asn827=)
n.2872C>T
n.2820C>T
Xg.71392590A>CCA413524412TAF1c.2089A>C (p.Thr697Pro)
c.2803A>C (p.Thr935Pro)
c.2384A>C
c.2740A>C (p.Thr914Pro)
c.2863A>C (p.Thr955Pro)
c.2800A>C (p.Thr934Pro)
n.2939A>C
c.2482A>C (p.Thr828Pro)
n.2873A>C
n.2821A>C
Xg.71392590A>GCA413524415TAF1c.2089A>G (p.Thr697Ala)
c.2803A>G (p.Thr935Ala)
c.2384A>G
c.2740A>G (p.Thr914Ala)
c.2863A>G (p.Thr955Ala)
c.2800A>G (p.Thr934Ala)
n.2939A>G
c.2482A>G (p.Thr828Ala)
n.2873A>G
n.2821A>G
Xg.71392590A>TCA413524414TAF1c.2089A>T (p.Thr697Ser)
c.2803A>T (p.Thr935Ser)
c.2384A>T
c.2740A>T (p.Thr914Ser)
c.2863A>T (p.Thr955Ser)
c.2800A>T (p.Thr934Ser)
n.2939A>T
c.2482A>T (p.Thr828Ser)
n.2873A>T
n.2821A>T
Xg.71392591C>ACA413524420TAF1c.2090C>A (p.Thr697Asn)
c.2804C>A (p.Thr935Asn)
c.2385C>A
c.2741C>A (p.Thr914Asn)
c.2864C>A (p.Thr955Asn)
c.2801C>A (p.Thr934Asn)
n.2940C>A
c.2483C>A (p.Thr828Asn)
n.2874C>A
n.2822C>A
Xg.71392591C>GCA413524423TAF1c.2090C>G (p.Thr697Ser)
c.2804C>G (p.Thr935Ser)
c.2385C>G
c.2741C>G (p.Thr914Ser)
c.2864C>G (p.Thr955Ser)
c.2801C>G (p.Thr934Ser)
n.2940C>G
c.2483C>G (p.Thr828Ser)
n.2874C>G
n.2822C>G
Xg.71392591C>TCA413524427TAF1c.2090C>T (p.Thr697Ile)
c.2804C>T (p.Thr935Ile)
c.2385C>T
c.2741C>T (p.Thr914Ile)
c.2864C>T (p.Thr955Ile)
c.2801C>T (p.Thr934Ile)
n.2940C>T
c.2483C>T (p.Thr828Ile)
n.2874C>T
n.2822C>T
Xg.71392592C>ACA516727840TAF1c.2091C>A (p.Thr697=)
c.2805C>A (p.Thr935=)
c.2386C>A
c.2742C>A (p.Thr914=)
c.2865C>A (p.Thr955=)
c.2802C>A (p.Thr934=)
n.2941C>A
c.2484C>A (p.Thr828=)
n.2875C>A
n.2823C>A
Xg.71392592C>GCA516727841TAF1c.2091C>G (p.Thr697=)
c.2805C>G (p.Thr935=)
c.2386C>G
c.2742C>G (p.Thr914=)
c.2865C>G (p.Thr955=)
c.2802C>G (p.Thr934=)
n.2941C>G
c.2484C>G (p.Thr828=)
n.2875C>G
n.2823C>G
Xg.71392592C>TCA516727842TAF1c.2091C>T (p.Thr697=)
c.2805C>T (p.Thr935=)
c.2386C>T
c.2742C>T (p.Thr914=)
c.2865C>T (p.Thr955=)
c.2802C>T (p.Thr934=)
n.2941C>T
c.2484C>T (p.Thr828=)
n.2875C>T
n.2823C>T
Xg.71392593A=CA2436448091TAF1c.2092A= (p.Thr698=)
c.2806A= (p.Thr936=)
c.2387A=
c.2743A= (p.Thr915=)
c.2866A= (p.Thr956=)
c.2803A= (p.Thr935=)
n.2942A=
c.2485A= (p.Thr829=)
n.2876A=
n.2824A=
Xg.71392593A>CCA413524432TAF1c.2092A>C (p.Thr698Pro)
c.2806A>C (p.Thr936Pro)
c.2387A>C
c.2743A>C (p.Thr915Pro)
c.2866A>C (p.Thr956Pro)
c.2803A>C (p.Thr935Pro)
n.2942A>C
c.2485A>C (p.Thr829Pro)
n.2876A>C
n.2824A>C
Xg.71392593A>GCA413524441TAF1c.2092A>G (p.Thr698Ala)
c.2806A>G (p.Thr936Ala)
c.2387A>G
c.2743A>G (p.Thr915Ala)
c.2866A>G (p.Thr956Ala)
c.2803A>G (p.Thr935Ala)
n.2942A>G
c.2485A>G (p.Thr829Ala)
n.2876A>G
n.2824A>G
ClinVar dbSNP gnomAD v4
Xg.71392593A>TCA331017832TAF1c.2092A>T (p.Thr698Ser)
c.2806A>T (p.Thr936Ser)
c.2387A>T
c.2743A>T (p.Thr915Ser)
c.2866A>T (p.Thr956Ser)
c.2803A>T (p.Thr935Ser)
n.2942A>T
c.2485A>T (p.Thr829Ser)
n.2876A>T
n.2824A>T
dbSNP gnomAD v4
Xg.71392594C>ACA413524449TAF1c.2093C>A (p.Thr698Lys)
c.2807C>A (p.Thr936Lys)
c.2388C>A
c.2744C>A (p.Thr915Lys)
c.2867C>A (p.Thr956Lys)
c.2804C>A (p.Thr935Lys)
n.2943C>A
c.2486C>A (p.Thr829Lys)
n.2877C>A
n.2825C>A
gnomAD v4
Xg.71392594C>GCA413524457TAF1c.2093C>G (p.Thr698Arg)
c.2807C>G (p.Thr936Arg)
c.2388C>G
c.2744C>G (p.Thr915Arg)
c.2867C>G (p.Thr956Arg)
c.2804C>G (p.Thr935Arg)
n.2943C>G
c.2486C>G (p.Thr829Arg)
n.2877C>G
n.2825C>G
Xg.71392594C>TCA413524471TAF1c.2093C>T (p.Thr698Ile)
c.2807C>T (p.Thr936Ile)
c.2388C>T
c.2744C>T (p.Thr915Ile)
c.2867C>T (p.Thr956Ile)
c.2804C>T (p.Thr935Ile)
n.2943C>T
c.2486C>T (p.Thr829Ile)
n.2877C>T
n.2825C>T
Xg.71392595A>CCA516727844TAF1c.2094A>C (p.Thr698=)
c.2808A>C (p.Thr936=)
c.2389A>C
c.2745A>C (p.Thr915=)
c.2868A>C (p.Thr956=)
c.2805A>C (p.Thr935=)
n.2944A>C
c.2487A>C (p.Thr829=)
n.2878A>C
n.2826A>C
Xg.71392595A>GCA516727845TAF1c.2094A>G (p.Thr698=)
c.2808A>G (p.Thr936=)
c.2389A>G
c.2745A>G (p.Thr915=)
c.2868A>G (p.Thr956=)
c.2805A>G (p.Thr935=)
n.2944A>G
c.2487A>G (p.Thr829=)
n.2878A>G
n.2826A>G
Xg.71392595A>TCA516727846TAF1c.2094A>T (p.Thr698=)
c.2808A>T (p.Thr936=)
c.2389A>T
c.2745A>T (p.Thr915=)
c.2868A>T (p.Thr956=)
c.2805A>T (p.Thr935=)
n.2944A>T
c.2487A>T (p.Thr829=)
n.2878A>T
n.2826A>T
Xg.71392596delCA2541905701TAF1c.2095del (p.Arg699GlyfsTer7)
c.2809del (p.Arg937GlyfsTer7)
c.2390del
c.2746del (p.Arg916GlyfsTer7)
c.2869del (p.Arg957GlyfsTer7)
c.2806del (p.Arg936GlyfsTer7)
n.2945del
c.2488del (p.Arg830GlyfsTer7)
n.2879del
n.2827del
Xg.71392596A>CCA516727847TAF1c.2095A>C (p.Arg699=)
c.2809A>C (p.Arg937=)
c.2390A>C
c.2746A>C (p.Arg916=)
c.2869A>C (p.Arg957=)
c.2806A>C (p.Arg936=)
n.2945A>C
c.2488A>C (p.Arg830=)
n.2879A>C
n.2827A>C
Xg.71392596A>GCA413524473TAF1c.2095A>G (p.Arg699Gly)
c.2809A>G (p.Arg937Gly)
c.2390A>G
c.2746A>G (p.Arg916Gly)
c.2869A>G (p.Arg957Gly)
c.2806A>G (p.Arg936Gly)
n.2945A>G
c.2488A>G (p.Arg830Gly)
n.2879A>G
n.2827A>G
gnomAD v4
Xg.71392596A>TCA413524478TAF1c.2095A>T (p.Arg699Trp)
c.2809A>T (p.Arg937Trp)
c.2390A>T
c.2746A>T (p.Arg916Trp)
c.2869A>T (p.Arg957Trp)
c.2806A>T (p.Arg936Trp)
n.2945A>T
c.2488A>T (p.Arg830Trp)
n.2879A>T
n.2827A>T
Xg.71392597G>ACA413524488TAF1c.2096G>A (p.Arg699Lys)
c.2810G>A (p.Arg937Lys)
c.2391G>A
c.2747G>A (p.Arg916Lys)
c.2870G>A (p.Arg957Lys)
c.2807G>A (p.Arg936Lys)
n.2946G>A
c.2489G>A (p.Arg830Lys)
n.2880G>A
n.2828G>A
gnomAD v4
Xg.71392597G>CCA413524487TAF1c.2096G>C (p.Arg699Thr)
c.2810G>C (p.Arg937Thr)
c.2391G>C
c.2747G>C (p.Arg916Thr)
c.2870G>C (p.Arg957Thr)
c.2807G>C (p.Arg936Thr)
n.2946G>C
c.2489G>C (p.Arg830Thr)
n.2880G>C
n.2828G>C
Xg.71392597G>TCA413524484TAF1c.2096G>T (p.Arg699Met)
c.2810G>T (p.Arg937Met)
c.2391G>T
c.2747G>T (p.Arg916Met)
c.2870G>T (p.Arg957Met)
c.2807G>T (p.Arg936Met)
n.2946G>T
c.2489G>T (p.Arg830Met)
n.2880G>T
n.2828G>T
Xg.71392598G>ACA516727848TAF1c.2097G>A (p.Arg699=)
c.2811G>A (p.Arg937=)
c.2392G>A
c.2748G>A (p.Arg916=)
c.2871G>A (p.Arg957=)
c.2808G>A (p.Arg936=)
n.2947G>A
c.2490G>A (p.Arg830=)
n.2881G>A
n.2829G>A
ClinVar
Xg.71392598G>CCA413524490TAF1c.2097G>C (p.Arg699Ser)
c.2811G>C (p.Arg937Ser)
c.2392G>C
c.2748G>C (p.Arg916Ser)
c.2871G>C (p.Arg957Ser)
c.2808G>C (p.Arg936Ser)
n.2947G>C
c.2490G>C (p.Arg830Ser)
n.2881G>C
n.2829G>C
gnomAD v4
Xg.71392598G>TCA413524489TAF1c.2097G>T (p.Arg699Ser)
c.2811G>T (p.Arg937Ser)
c.2392G>T
c.2748G>T (p.Arg916Ser)
c.2871G>T (p.Arg957Ser)
c.2808G>T (p.Arg936Ser)
n.2947G>T
c.2490G>T (p.Arg830Ser)
n.2881G>T
n.2829G>T
Xg.71392599G>ACA413524500TAF1c.2098G>A (p.Ala700Thr)
c.2812G>A (p.Ala938Thr)
c.2393G>A
c.2749G>A (p.Ala917Thr)
c.2872G>A (p.Ala958Thr)
c.2809G>A (p.Ala937Thr)
n.2948G>A
c.2491G>A (p.Ala831Thr)
n.2882G>A
n.2830G>A
Xg.71392599G>CCA413524493TAF1c.2098G>C (p.Ala700Pro)
c.2812G>C (p.Ala938Pro)
c.2393G>C
c.2749G>C (p.Ala917Pro)
c.2872G>C (p.Ala958Pro)
c.2809G>C (p.Ala937Pro)
n.2948G>C
c.2491G>C (p.Ala831Pro)
n.2882G>C
n.2830G>C
Xg.71392599G>TCA413524496TAF1c.2098G>T (p.Ala700Ser)
c.2812G>T (p.Ala938Ser)
c.2393G>T
c.2749G>T (p.Ala917Ser)
c.2872G>T (p.Ala958Ser)
c.2809G>T (p.Ala937Ser)
n.2948G>T
c.2491G>T (p.Ala831Ser)
n.2882G>T
n.2830G>T
Xg.71392600C>ACA413524509TAF1c.2099C>A (p.Ala700Asp)
c.2813C>A (p.Ala938Asp)
c.2394C>A
c.2750C>A (p.Ala917Asp)
c.2873C>A (p.Ala958Asp)
c.2810C>A (p.Ala937Asp)
n.2949C>A
c.2492C>A (p.Ala831Asp)
n.2883C>A
n.2831C>A
Xg.71392600C>GCA413524511TAF1c.2099C>G (p.Ala700Gly)
c.2813C>G (p.Ala938Gly)
c.2394C>G
c.2750C>G (p.Ala917Gly)
c.2873C>G (p.Ala958Gly)
c.2810C>G (p.Ala937Gly)
n.2949C>G
c.2492C>G (p.Ala831Gly)
n.2883C>G
n.2831C>G
Xg.71392600C>TCA413524514TAF1c.2099C>T (p.Ala700Val)
c.2813C>T (p.Ala938Val)
c.2394C>T
c.2750C>T (p.Ala917Val)
c.2873C>T (p.Ala958Val)
c.2810C>T (p.Ala937Val)
n.2949C>T
c.2492C>T (p.Ala831Val)
n.2883C>T
n.2831C>T
gnomAD v4
Xg.71392601C>ACA516727849TAF1c.2100C>A (p.Ala700=)
c.2814C>A (p.Ala938=)
c.2395C>A
c.2751C>A (p.Ala917=)
c.2874C>A (p.Ala958=)
c.2811C>A (p.Ala937=)
n.2950C>A
c.2493C>A (p.Ala831=)
n.2884C>A
n.2832C>A
gnomAD v4
Xg.71392601C=CA2436448092TAF1c.2100C= (p.Ala700=)
c.2814C= (p.Ala938=)
c.2395C=
c.2751C= (p.Ala917=)
c.2874C= (p.Ala958=)
c.2811C= (p.Ala937=)
n.2950C=
c.2493C= (p.Ala831=)
n.2884C=
n.2832C=
Xg.71392601C>GCA516727850TAF1c.2100C>G (p.Ala700=)
c.2814C>G (p.Ala938=)
c.2395C>G
c.2751C>G (p.Ala917=)
c.2874C>G (p.Ala958=)
c.2811C>G (p.Ala937=)
n.2950C>G
c.2493C>G (p.Ala831=)
n.2884C>G
n.2832C>G
Xg.71392601C>TCA10446946TAF1c.2100C>T (p.Ala700=)
c.2814C>T (p.Ala938=)
c.2395C>T
c.2751C>T (p.Ala917=)
c.2874C>T (p.Ala958=)
c.2811C>T (p.Ala937=)
n.2950C>T
c.2493C>T (p.Ala831=)
n.2884C>T
n.2832C>T
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.71392602T>ACA413524536TAF1c.2101T>A (p.Phe701Ile)
c.2815T>A (p.Phe939Ile)
c.2396T>A
c.2752T>A (p.Phe918Ile)
c.2875T>A (p.Phe959Ile)
c.2812T>A (p.Phe938Ile)
n.2951T>A
c.2494T>A (p.Phe832Ile)
n.2885T>A
n.2833T>A
gnomAD v4
Xg.71392602T>CCA413524526TAF1c.2101T>C (p.Phe701Leu)
c.2815T>C (p.Phe939Leu)
c.2396T>C
c.2752T>C (p.Phe918Leu)
c.2875T>C (p.Phe959Leu)
c.2812T>C (p.Phe938Leu)
n.2951T>C
c.2494T>C (p.Phe832Leu)
n.2885T>C
n.2833T>C
Xg.71392602T>GCA413524531TAF1c.2101T>G (p.Phe701Val)
c.2815T>G (p.Phe939Val)
c.2396T>G
c.2752T>G (p.Phe918Val)
c.2875T>G (p.Phe959Val)
c.2812T>G (p.Phe938Val)
n.2951T>G
c.2494T>G (p.Phe832Val)
n.2885T>G
n.2833T>G
Xg.71392603T>ACA413524538TAF1c.2102T>A (p.Phe701Tyr)
c.2816T>A (p.Phe939Tyr)
c.2397T>A
c.2753T>A (p.Phe918Tyr)
c.2876T>A (p.Phe959Tyr)
c.2813T>A (p.Phe938Tyr)
n.2952T>A
c.2495T>A (p.Phe832Tyr)
n.2886T>A
n.2834T>A
Xg.71392603T>CCA413524539TAF1c.2102T>C (p.Phe701Ser)
c.2816T>C (p.Phe939Ser)
c.2397T>C
c.2753T>C (p.Phe918Ser)
c.2876T>C (p.Phe959Ser)
c.2813T>C (p.Phe938Ser)
n.2952T>C
c.2495T>C (p.Phe832Ser)
n.2886T>C
n.2834T>C
Xg.71392603T>GCA413524541TAF1c.2102T>G (p.Phe701Cys)
c.2816T>G (p.Phe939Cys)
c.2397T>G
c.2753T>G (p.Phe918Cys)
c.2876T>G (p.Phe959Cys)
c.2813T>G (p.Phe938Cys)
n.2952T>G
c.2495T>G (p.Phe832Cys)
n.2886T>G
n.2834T>G
Xg.71392604C>ACA413524542TAF1c.2103C>A (p.Phe701Leu)
c.2817C>A (p.Phe939Leu)
c.2398C>A
c.2754C>A (p.Phe918Leu)
c.2877C>A (p.Phe959Leu)
c.2814C>A (p.Phe938Leu)
n.2953C>A
c.2496C>A (p.Phe832Leu)
n.2887C>A
n.2835C>A
gnomAD v4
Xg.71392604C>GCA413524543TAF1c.2103C>G (p.Phe701Leu)
c.2817C>G (p.Phe939Leu)
c.2398C>G
c.2754C>G (p.Phe918Leu)
c.2877C>G (p.Phe959Leu)
c.2814C>G (p.Phe938Leu)
n.2953C>G
c.2496C>G (p.Phe832Leu)
n.2887C>G
n.2835C>G
Xg.71392604C>TCA516727852TAF1c.2103C>T (p.Phe701=)
c.2817C>T (p.Phe939=)
c.2398C>T
c.2754C>T (p.Phe918=)
c.2877C>T (p.Phe959=)
c.2814C>T (p.Phe938=)
n.2953C>T
c.2496C>T (p.Phe832=)
n.2887C>T
n.2835C>T
Xg.71392605A>CCA413524546TAF1c.2104A>C (p.Ile702Leu)
c.2818A>C (p.Ile940Leu)
c.2399A>C
c.2755A>C (p.Ile919Leu)
c.2878A>C (p.Ile960Leu)
c.2815A>C (p.Ile939Leu)
n.2954A>C
c.2497A>C (p.Ile833Leu)
n.2888A>C
n.2836A>C
Xg.71392605A>GCA413524544TAF1c.2104A>G (p.Ile702Val)
c.2818A>G (p.Ile940Val)
c.2399A>G
c.2755A>G (p.Ile919Val)
c.2878A>G (p.Ile960Val)
c.2815A>G (p.Ile939Val)
n.2954A>G
c.2497A>G (p.Ile833Val)
n.2888A>G
n.2836A>G
Xg.71392605A>TCA413524545TAF1c.2104A>T (p.Ile702Phe)
c.2818A>T (p.Ile940Phe)
c.2399A>T
c.2755A>T (p.Ile919Phe)
c.2878A>T (p.Ile960Phe)
c.2815A>T (p.Ile939Phe)
n.2954A>T
c.2497A>T (p.Ile833Phe)
n.2888A>T
n.2836A>T
Xg.71392606T>ACA413524547TAF1c.2105T>A (p.Ile702Asn)
c.2819T>A (p.Ile940Asn)
c.2400T>A
c.2756T>A (p.Ile919Asn)
c.2879T>A (p.Ile960Asn)
c.2816T>A (p.Ile939Asn)
n.2955T>A
c.2498T>A (p.Ile833Asn)
n.2889T>A
n.2837T>A
Xg.71392606T>CCA413524548TAF1c.2105T>C (p.Ile702Thr)
c.2819T>C (p.Ile940Thr)
c.2400T>C
c.2756T>C (p.Ile919Thr)
c.2879T>C (p.Ile960Thr)
c.2816T>C (p.Ile939Thr)
n.2955T>C
c.2498T>C (p.Ile833Thr)
n.2889T>C
n.2837T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.71392606T>GCA413524549TAF1c.2105T>G (p.Ile702Ser)
c.2819T>G (p.Ile940Ser)
c.2400T>G
c.2756T>G (p.Ile919Ser)
c.2879T>G (p.Ile960Ser)
c.2816T>G (p.Ile939Ser)
n.2955T>G
c.2498T>G (p.Ile833Ser)
n.2889T>G
n.2837T>G
Xg.71392606T=CA2436448093TAF1c.2105T= (p.Ile702=)
c.2819T= (p.Ile940=)
c.2400T=
c.2756T= (p.Ile919=)
c.2879T= (p.Ile960=)
c.2816T= (p.Ile939=)
n.2955T=
c.2498T= (p.Ile833=)
n.2889T=
n.2837T=
Xg.71392607T>ACA516727856TAF1c.2106T>A (p.Ile702=)
c.2820T>A (p.Ile940=)
c.2401T>A
c.2757T>A (p.Ile919=)
c.2880T>A (p.Ile960=)
c.2817T>A (p.Ile939=)
n.2956T>A
c.2499T>A (p.Ile833=)
n.2890T>A
n.2838T>A
Xg.71392607T>CCA516727858TAF1c.2106T>C (p.Ile702=)
c.2820T>C (p.Ile940=)
c.2401T>C
c.2757T>C (p.Ile919=)
c.2880T>C (p.Ile960=)
c.2817T>C (p.Ile939=)
n.2956T>C
c.2499T>C (p.Ile833=)
n.2890T>C
n.2838T>C
Xg.71392607T>GCA413524551TAF1c.2106T>G (p.Ile702Met)
c.2820T>G (p.Ile940Met)
c.2401T>G
c.2757T>G (p.Ile919Met)
c.2880T>G (p.Ile960Met)
c.2817T>G (p.Ile939Met)
n.2956T>G
c.2499T>G (p.Ile833Met)
n.2890T>G
n.2838T>G
Xg.71392608G>ACA413524553TAF1c.2107G>A (p.Ala703Thr)
c.2821G>A (p.Ala941Thr)
c.2402G>A
c.2758G>A (p.Ala920Thr)
c.2881G>A (p.Ala961Thr)
c.2818G>A (p.Ala940Thr)
n.2957G>A
c.2500G>A (p.Ala834Thr)
n.2891G>A
n.2839G>A
gnomAD v4
Xg.71392608G>CCA413524554TAF1c.2107G>C (p.Ala703Pro)
c.2821G>C (p.Ala941Pro)
c.2402G>C
c.2758G>C (p.Ala920Pro)
c.2881G>C (p.Ala961Pro)
c.2818G>C (p.Ala940Pro)
n.2957G>C
c.2500G>C (p.Ala834Pro)
n.2891G>C
n.2839G>C
Xg.71392608G>TCA413524555TAF1c.2107G>T (p.Ala703Ser)
c.2821G>T (p.Ala941Ser)
c.2402G>T
c.2758G>T (p.Ala920Ser)
c.2881G>T (p.Ala961Ser)
c.2818G>T (p.Ala940Ser)
n.2957G>T
c.2500G>T (p.Ala834Ser)
n.2891G>T
n.2839G>T
Xg.71392609C>ACA413524556TAF1c.2108C>A (p.Ala703Asp)
c.2822C>A (p.Ala941Asp)
c.2403C>A
c.2759C>A (p.Ala920Asp)
c.2882C>A (p.Ala961Asp)
c.2819C>A (p.Ala940Asp)
n.2958C>A
c.2501C>A (p.Ala834Asp)
n.2892C>A
n.2840C>A
gnomAD v4
Xg.71392609C>GCA413524558TAF1c.2108C>G (p.Ala703Gly)
c.2822C>G (p.Ala941Gly)
c.2403C>G
c.2759C>G (p.Ala920Gly)
c.2882C>G (p.Ala961Gly)
c.2819C>G (p.Ala940Gly)
n.2958C>G
c.2501C>G (p.Ala834Gly)
n.2892C>G
n.2840C>G
Xg.71392609C>TCA413524560TAF1c.2108C>T (p.Ala703Val)
c.2822C>T (p.Ala941Val)
c.2403C>T
c.2759C>T (p.Ala920Val)
c.2882C>T (p.Ala961Val)
c.2819C>T (p.Ala940Val)
n.2958C>T
c.2501C>T (p.Ala834Val)
n.2892C>T
n.2840C>T
gnomAD v4
Xg.71392610T>ACA516727862TAF1c.2109T>A (p.Ala703=)
c.2823T>A (p.Ala941=)
c.2404T>A
c.2760T>A (p.Ala920=)
c.2883T>A (p.Ala961=)
c.2820T>A (p.Ala940=)
n.2959T>A
c.2502T>A (p.Ala834=)
n.2893T>A
n.2841T>A
Xg.71392610T>CCA516727860TAF1c.2109T>C (p.Ala703=)
c.2823T>C (p.Ala941=)
c.2404T>C
c.2760T>C (p.Ala920=)
c.2883T>C (p.Ala961=)
c.2820T>C (p.Ala940=)
n.2959T>C
c.2502T>C (p.Ala834=)
n.2893T>C
n.2841T>C
Xg.71392610T>GCA516727861TAF1c.2109T>G (p.Ala703=)
c.2823T>G (p.Ala941=)
c.2404T>G
c.2760T>G (p.Ala920=)
c.2883T>G (p.Ala961=)
c.2820T>G (p.Ala940=)
n.2959T>G
c.2502T>G (p.Ala834=)
n.2893T>G
n.2841T>G
Xg.71392611G>ACA413524561TAF1c.2110G>A (p.Ala704Thr)
c.2824G>A (p.Ala942Thr)
c.2405G>A
c.2761G>A (p.Ala921Thr)
c.2884G>A (p.Ala962Thr)
c.2821G>A (p.Ala941Thr)
n.2960G>A
c.2503G>A (p.Ala835Thr)
n.2894G>A
n.2842G>A
Xg.71392611G>CCA413524562TAF1c.2110G>C (p.Ala704Pro)
c.2824G>C (p.Ala942Pro)
c.2405G>C
c.2761G>C (p.Ala921Pro)
c.2884G>C (p.Ala962Pro)
c.2821G>C (p.Ala941Pro)
n.2960G>C
c.2503G>C (p.Ala835Pro)
n.2894G>C
n.2842G>C
Xg.71392611G>TCA413524564TAF1c.2110G>T (p.Ala704Ser)
c.2824G>T (p.Ala942Ser)
c.2405G>T
c.2761G>T (p.Ala921Ser)
c.2884G>T (p.Ala962Ser)
c.2821G>T (p.Ala941Ser)
n.2960G>T
c.2503G>T (p.Ala835Ser)
n.2894G>T
n.2842G>T
Xg.71392612C>ACA413524565TAF1c.2111C>A (p.Ala704Asp)
c.2825C>A (p.Ala942Asp)
c.2406C>A
c.2762C>A (p.Ala921Asp)
c.2885C>A (p.Ala962Asp)
c.2822C>A (p.Ala941Asp)
n.2961C>A
c.2504C>A (p.Ala835Asp)
n.2895C>A
n.2843C>A
Xg.71392612C>GCA413524569TAF1c.2111C>G (p.Ala704Gly)
c.2825C>G (p.Ala942Gly)
c.2406C>G
c.2762C>G (p.Ala921Gly)
c.2885C>G (p.Ala962Gly)
c.2822C>G (p.Ala941Gly)
n.2961C>G
c.2504C>G (p.Ala835Gly)
n.2895C>G
n.2843C>G
Xg.71392612C>TCA413524567TAF1c.2111C>T (p.Ala704Val)
c.2825C>T (p.Ala942Val)
c.2406C>T
c.2762C>T (p.Ala921Val)
c.2885C>T (p.Ala962Val)
c.2822C>T (p.Ala941Val)
n.2961C>T
c.2504C>T (p.Ala835Val)
n.2895C>T
n.2843C>T
Xg.71392613C>ACA516727869TAF1c.2112C>A (p.Ala704=)
c.2826C>A (p.Ala942=)
c.2407C>A
c.2763C>A (p.Ala921=)
c.2886C>A (p.Ala962=)
c.2823C>A (p.Ala941=)
n.2962C>A
c.2505C>A (p.Ala835=)
n.2896C>A
n.2844C>A
dbSNP gnomAD v2 gnomAD v4
Xg.71392613C=CA2436448094TAF1c.2112C= (p.Ala704=)
c.2826C= (p.Ala942=)
c.2407C=
c.2763C= (p.Ala921=)
c.2886C= (p.Ala962=)
c.2823C= (p.Ala941=)
n.2962C=
c.2505C= (p.Ala835=)
n.2896C=
n.2844C=
Xg.71392613C>GCA516727871TAF1c.2112C>G (p.Ala704=)
c.2826C>G (p.Ala942=)
c.2407C>G
c.2763C>G (p.Ala921=)
c.2886C>G (p.Ala962=)
c.2823C>G (p.Ala941=)
n.2962C>G
c.2505C>G (p.Ala835=)
n.2896C>G
n.2844C>G
Xg.71392613C>TCA516727870TAF1c.2112C>T (p.Ala704=)
c.2826C>T (p.Ala942=)
c.2407C>T
c.2763C>T (p.Ala921=)
c.2886C>T (p.Ala962=)
c.2823C>T (p.Ala941=)
n.2962C>T
c.2505C>T (p.Ala835=)
n.2896C>T
n.2844C>T
Xg.71392614A>CCA413524572TAF1c.2113A>C (p.Met705Leu)
c.2827A>C (p.Met943Leu)
c.2408A>C
c.2764A>C (p.Met922Leu)
c.2887A>C (p.Met963Leu)
c.2824A>C (p.Met942Leu)
n.2963A>C
c.2506A>C (p.Met836Leu)
n.2897A>C
n.2845A>C
Xg.71392614A>GCA413524573TAF1c.2113A>G (p.Met705Val)
c.2827A>G (p.Met943Val)
c.2408A>G
c.2764A>G (p.Met922Val)
c.2887A>G (p.Met963Val)
c.2824A>G (p.Met942Val)
n.2963A>G
c.2506A>G (p.Met836Val)
n.2897A>G
n.2845A>G
Xg.71392614A>TCA413524576TAF1c.2113A>T (p.Met705Leu)
c.2827A>T (p.Met943Leu)
c.2408A>T
c.2764A>T (p.Met922Leu)
c.2887A>T (p.Met963Leu)
c.2824A>T (p.Met942Leu)
n.2963A>T
c.2506A>T (p.Met836Leu)
n.2897A>T
n.2845A>T
Xg.71392615T>ACA413524578TAF1c.2114T>A (p.Met705Lys)
c.2828T>A (p.Met943Lys)
c.2409T>A
c.2765T>A (p.Met922Lys)
c.2888T>A (p.Met963Lys)
c.2825T>A (p.Met942Lys)
n.2964T>A
c.2507T>A (p.Met836Lys)
n.2898T>A
n.2846T>A
Xg.71392615T>CCA413524580TAF1c.2114T>C (p.Met705Thr)
c.2828T>C (p.Met943Thr)
c.2409T>C
c.2765T>C (p.Met922Thr)
c.2888T>C (p.Met963Thr)
c.2825T>C (p.Met942Thr)
n.2964T>C
c.2507T>C (p.Met836Thr)
n.2898T>C
n.2846T>C
Xg.71392615T>GCA413524581TAF1c.2114T>G (p.Met705Arg)
c.2828T>G (p.Met943Arg)
c.2409T>G
c.2765T>G (p.Met922Arg)
c.2888T>G (p.Met963Arg)
c.2825T>G (p.Met942Arg)
n.2964T>G
c.2507T>G (p.Met836Arg)
n.2898T>G
n.2846T>G
Xg.71392616G>ACA413524582TAF1c.2115G>A (p.Met705Ile)
c.2829G>A (p.Met943Ile)
c.2410G>A
c.2766G>A (p.Met922Ile)
c.2889G>A (p.Met963Ile)
c.2826G>A (p.Met942Ile)
n.2965G>A
c.2508G>A (p.Met836Ile)
n.2899G>A
n.2847G>A
gnomAD v4
Xg.71392616G>CCA413524583TAF1c.2115G>C (p.Met705Ile)
c.2829G>C (p.Met943Ile)
c.2410G>C
c.2766G>C (p.Met922Ile)
c.2889G>C (p.Met963Ile)
c.2826G>C (p.Met942Ile)
n.2965G>C
c.2508G>C (p.Met836Ile)
n.2899G>C
n.2847G>C
Xg.71392616G>TCA413524584TAF1c.2115G>T (p.Met705Ile)
c.2829G>T (p.Met943Ile)
c.2410G>T
c.2766G>T (p.Met922Ile)
c.2889G>T (p.Met963Ile)
c.2826G>T (p.Met942Ile)
n.2965G>T
c.2508G>T (p.Met836Ile)
n.2899G>T
n.2847G>T
Xg.71392617A>CCA413524585TAF1c.2116A>C (p.Lys706Gln)
c.2830A>C (p.Lys944Gln)
c.2411A>C
c.2767A>C (p.Lys923Gln)
c.2890A>C (p.Lys964Gln)
c.2827A>C (p.Lys943Gln)
n.2966A>C
c.2509A>C (p.Lys837Gln)
n.2900A>C
n.2848A>C
Xg.71392617A>GCA413524586TAF1c.2116A>G (p.Lys706Glu)
c.2830A>G (p.Lys944Glu)
c.2411A>G
c.2767A>G (p.Lys923Glu)
c.2890A>G (p.Lys964Glu)
c.2827A>G (p.Lys943Glu)
n.2966A>G
c.2509A>G (p.Lys837Glu)
n.2900A>G
n.2848A>G
Xg.71392617A>TCA413524587TAF1c.2116A>T (p.Lys706Ter)
c.2830A>T (p.Lys944Ter)
c.2411A>T
c.2767A>T (p.Lys923Ter)
c.2890A>T (p.Lys964Ter)
c.2827A>T (p.Lys943Ter)
n.2966A>T
c.2509A>T (p.Lys837Ter)
n.2900A>T
n.2848A>T
Xg.71392618A>CCA413524591TAF1c.2117A>C (p.Lys706Thr)
c.2831A>C (p.Lys944Thr)
c.2412A>C
c.2768A>C (p.Lys923Thr)
c.2891A>C (p.Lys964Thr)
c.2828A>C (p.Lys943Thr)
n.2967A>C
c.2510A>C (p.Lys837Thr)
n.2901A>C
n.2849A>C
Xg.71392618A>GCA413524588TAF1c.2117A>G (p.Lys706Arg)
c.2831A>G (p.Lys944Arg)
c.2412A>G
c.2768A>G (p.Lys923Arg)
c.2891A>G (p.Lys964Arg)
c.2828A>G (p.Lys943Arg)
n.2967A>G
c.2510A>G (p.Lys837Arg)
n.2901A>G
n.2849A>G
Xg.71392618A>TCA413524589TAF1c.2117A>T (p.Lys706Met)
c.2831A>T (p.Lys944Met)
c.2412A>T
c.2768A>T (p.Lys923Met)
c.2891A>T (p.Lys964Met)
c.2828A>T (p.Lys943Met)
n.2967A>T
c.2510A>T (p.Lys837Met)
n.2901A>T
n.2849A>T
Xg.71392619G>ACA516727876TAF1c.2118G>A (p.Lys706=)
c.2832G>A (p.Lys944=)
c.2413G>A
c.2769G>A (p.Lys923=)
c.2892G>A (p.Lys964=)
c.2829G>A (p.Lys943=)
n.2968G>A
c.2511G>A (p.Lys837=)
n.2902G>A
n.2850G>A
gnomAD v4
Xg.71392619G>CCA413524594TAF1c.2118G>C (p.Lys706Asn)
c.2832G>C (p.Lys944Asn)
c.2413G>C
c.2769G>C (p.Lys923Asn)
c.2892G>C (p.Lys964Asn)
c.2829G>C (p.Lys943Asn)
n.2968G>C
c.2511G>C (p.Lys837Asn)
n.2902G>C
n.2850G>C
Xg.71392619G>TCA413524596TAF1c.2118G>T (p.Lys706Asn)
c.2832G>T (p.Lys944Asn)
c.2413G>T
c.2769G>T (p.Lys923Asn)
c.2892G>T (p.Lys964Asn)
c.2829G>T (p.Lys943Asn)
n.2968G>T
c.2511G>T (p.Lys837Asn)
n.2902G>T
n.2850G>T
Xg.71392620G>ACA413524599TAF1c.2119G>A (p.Gly707Ser)
c.2833G>A (p.Gly945Ser)
c.2414G>A
c.2770G>A (p.Gly924Ser)
c.2893G>A (p.Gly965Ser)
c.2830G>A (p.Gly944Ser)
n.2969G>A
c.2512G>A (p.Gly838Ser)
n.2903G>A
n.2851G>A
dbSNP
Xg.71392620G>CCA413524605TAF1c.2119G>C (p.Gly707Arg)
c.2833G>C (p.Gly945Arg)
c.2414G>C
c.2770G>C (p.Gly924Arg)
c.2893G>C (p.Gly965Arg)
c.2830G>C (p.Gly944Arg)
n.2969G>C
c.2512G>C (p.Gly838Arg)
n.2903G>C
n.2851G>C
Xg.71392620G=CA2436448095TAF1c.2119G= (p.Gly707=)
c.2833G= (p.Gly945=)
c.2414G=
c.2770G= (p.Gly924=)
c.2893G= (p.Gly965=)
c.2830G= (p.Gly944=)
n.2969G=
c.2512G= (p.Gly838=)
n.2903G=
n.2851G=
Xg.71392620G>TCA413524607TAF1c.2119G>T (p.Gly707Cys)
c.2833G>T (p.Gly945Cys)
c.2414G>T
c.2770G>T (p.Gly924Cys)
c.2893G>T (p.Gly965Cys)
c.2830G>T (p.Gly944Cys)
n.2969G>T
c.2512G>T (p.Gly838Cys)
n.2903G>T
n.2851G>T
Xg.71392621G>ACA413524611TAF1c.2120G>A (p.Gly707Asp)
c.2834G>A (p.Gly945Asp)
c.2415G>A
c.2771G>A (p.Gly924Asp)
c.2894G>A (p.Gly965Asp)
c.2831G>A (p.Gly944Asp)
n.2970G>A
c.2513G>A (p.Gly838Asp)
n.2904G>A
n.2852G>A
Xg.71392621G>CCA413524613TAF1c.2120G>C (p.Gly707Ala)
c.2834G>C (p.Gly945Ala)
c.2415G>C
c.2771G>C (p.Gly924Ala)
c.2894G>C (p.Gly965Ala)
c.2831G>C (p.Gly944Ala)
n.2970G>C
c.2513G>C (p.Gly838Ala)
n.2904G>C
n.2852G>C
Xg.71392621G>TCA413524616TAF1c.2120G>T (p.Gly707Val)
c.2834G>T (p.Gly945Val)
c.2415G>T
c.2771G>T (p.Gly924Val)
c.2894G>T (p.Gly965Val)
c.2831G>T (p.Gly944Val)
n.2970G>T
c.2513G>T (p.Gly838Val)
n.2904G>T
n.2852G>T
Xg.71392622C>ACA516727879TAF1c.2121C>A (p.Gly707=)
c.2835C>A (p.Gly945=)
c.2416C>A
c.2772C>A (p.Gly924=)
c.2895C>A (p.Gly965=)
c.2832C>A (p.Gly944=)
n.2971C>A
c.2514C>A (p.Gly838=)
n.2905C>A
n.2853C>A
Xg.71392622C>GCA516727880TAF1c.2121C>G (p.Gly707=)
c.2835C>G (p.Gly945=)
c.2416C>G
c.2772C>G (p.Gly924=)
c.2895C>G (p.Gly965=)
c.2832C>G (p.Gly944=)
n.2971C>G
c.2514C>G (p.Gly838=)
n.2905C>G
n.2853C>G
Xg.71392622C>TCA516727881TAF1c.2121C>T (p.Gly707=)
c.2835C>T (p.Gly945=)
c.2416C>T
c.2772C>T (p.Gly924=)
c.2895C>T (p.Gly965=)
c.2832C>T (p.Gly944=)
n.2971C>T
c.2514C>T (p.Gly838=)
n.2905C>T
n.2853C>T
Xg.71392623A>CCA413524619TAF1c.2122A>C (p.Lys708Gln)
c.2836A>C (p.Lys946Gln)
c.2417A>C
c.2773A>C (p.Lys925Gln)
c.2896A>C (p.Lys966Gln)
c.2833A>C (p.Lys945Gln)
n.2972A>C
c.2515A>C (p.Lys839Gln)
n.2906A>C
n.2854A>C
Xg.71392623A>GCA413524620TAF1c.2122A>G (p.Lys708Glu)
c.2836A>G (p.Lys946Glu)
c.2417A>G
c.2773A>G (p.Lys925Glu)
c.2896A>G (p.Lys966Glu)
c.2833A>G (p.Lys945Glu)
n.2972A>G
c.2515A>G (p.Lys839Glu)
n.2906A>G
n.2854A>G
gnomAD v4
Xg.71392623A>TCA413524621TAF1c.2122A>T (p.Lys708Ter)
c.2836A>T (p.Lys946Ter)
c.2417A>T
c.2773A>T (p.Lys925Ter)
c.2896A>T (p.Lys966Ter)
c.2833A>T (p.Lys945Ter)
n.2972A>T
c.2515A>T (p.Lys839Ter)
n.2906A>T
n.2854A>T
Xg.71392624A>CCA413524625TAF1c.2123A>C (p.Lys708Thr)
c.2837A>C (p.Lys946Thr)
c.2418A>C
c.2774A>C (p.Lys925Thr)
c.2897A>C (p.Lys966Thr)
c.2834A>C (p.Lys945Thr)
n.2973A>C
c.2516A>C (p.Lys839Thr)
n.2907A>C
n.2855A>C
Xg.71392624A>GCA413524623TAF1c.2123A>G (p.Lys708Arg)
c.2837A>G (p.Lys946Arg)
c.2418A>G
c.2774A>G (p.Lys925Arg)
c.2897A>G (p.Lys966Arg)
c.2834A>G (p.Lys945Arg)
n.2973A>G
c.2516A>G (p.Lys839Arg)
n.2907A>G
n.2855A>G
Xg.71392624A>TCA413524622TAF1c.2123A>T (p.Lys708Met)
c.2837A>T (p.Lys946Met)
c.2418A>T
c.2774A>T (p.Lys925Met)
c.2897A>T (p.Lys966Met)
c.2834A>T (p.Lys945Met)
n.2973A>T
c.2516A>T (p.Lys839Met)
n.2907A>T
n.2855A>T
COSMIC COSMIC COSMIC
Xg.71392625G>ACA516727883TAF1c.2124G>A (p.Lys708=)
c.2838G>A (p.Lys946=)
c.2419G>A
c.2775G>A (p.Lys925=)
c.2898G>A (p.Lys966=)
c.2835G>A (p.Lys945=)
n.2974G>A
c.2517G>A (p.Lys839=)
n.2908G>A
n.2856G>A
gnomAD v4
Xg.71392625G>CCA413524628TAF1c.2124G>C (p.Lys708Asn)
c.2838G>C (p.Lys946Asn)
c.2419G>C
c.2775G>C (p.Lys925Asn)
c.2898G>C (p.Lys966Asn)
c.2835G>C (p.Lys945Asn)
n.2974G>C
c.2517G>C (p.Lys839Asn)
n.2908G>C
n.2856G>C
Xg.71392625G>TCA413524633TAF1c.2124G>T (p.Lys708Asn)
c.2838G>T (p.Lys946Asn)
c.2419G>T
c.2775G>T (p.Lys925Asn)
c.2898G>T (p.Lys966Asn)
c.2835G>T (p.Lys945Asn)
n.2974G>T
c.2517G>T (p.Lys839Asn)
n.2908G>T
n.2856G>T
Xg.71392626T>ACA413524639TAF1c.2125T>A (p.Cys709Ser)
c.2839T>A (p.Cys947Ser)
c.2420T>A
c.2776T>A (p.Cys926Ser)
c.2899T>A (p.Cys967Ser)
c.2836T>A (p.Cys946Ser)
n.2975T>A
c.2518T>A (p.Cys840Ser)
n.2909T>A
n.2857T>A
Xg.71392626T>CCA413524642TAF1c.2125T>C (p.Cys709Arg)
c.2839T>C (p.Cys947Arg)
c.2420T>C
c.2776T>C (p.Cys926Arg)
c.2899T>C (p.Cys967Arg)
c.2836T>C (p.Cys946Arg)
n.2975T>C
c.2518T>C (p.Cys840Arg)
n.2909T>C
n.2857T>C
Xg.71392626T>GCA413524645TAF1c.2125T>G (p.Cys709Gly)
c.2839T>G (p.Cys947Gly)
c.2420T>G
c.2776T>G (p.Cys926Gly)
c.2899T>G (p.Cys967Gly)
c.2836T>G (p.Cys946Gly)
n.2975T>G
c.2518T>G (p.Cys840Gly)
n.2909T>G
n.2857T>G
Xg.71392627G>ACA413524646TAF1c.2126G>A (p.Cys709Tyr)
c.2840G>A (p.Cys947Tyr)
c.2421G>A
c.2777G>A (p.Cys926Tyr)
c.2900G>A (p.Cys967Tyr)
c.2837G>A (p.Cys946Tyr)
n.2976G>A
c.2519G>A (p.Cys840Tyr)
n.2910G>A
n.2858G>A
Xg.71392627G>CCA413524647TAF1c.2126G>C (p.Cys709Ser)
c.2840G>C (p.Cys947Ser)
c.2421G>C
c.2777G>C (p.Cys926Ser)
c.2900G>C (p.Cys967Ser)
c.2837G>C (p.Cys946Ser)
n.2976G>C
c.2519G>C (p.Cys840Ser)
n.2910G>C
n.2858G>C
Xg.71392627G>TCA413524648TAF1c.2126G>T (p.Cys709Phe)
c.2840G>T (p.Cys947Phe)
c.2421G>T
c.2777G>T (p.Cys926Phe)
c.2900G>T (p.Cys967Phe)
c.2837G>T (p.Cys946Phe)
n.2976G>T
c.2519G>T (p.Cys840Phe)
n.2910G>T
n.2858G>T
Xg.71392628T>ACA413524649TAF1c.2127T>A (p.Cys709Ter)
c.2841T>A (p.Cys947Ter)
c.2422T>A
c.2778T>A (p.Cys926Ter)
c.2901T>A (p.Cys967Ter)
c.2838T>A (p.Cys946Ter)
n.2977T>A
c.2520T>A (p.Cys840Ter)
n.2911T>A
n.2859T>A
Xg.71392628T>CCA516727888TAF1c.2127T>C (p.Cys709=)
c.2841T>C (p.Cys947=)
c.2422T>C
c.2778T>C (p.Cys926=)
c.2901T>C (p.Cys967=)
c.2838T>C (p.Cys946=)
n.2977T>C
c.2520T>C (p.Cys840=)
n.2911T>C
n.2859T>C
Xg.71392628T>GCA413524651TAF1c.2127T>G (p.Cys709Trp)
c.2841T>G (p.Cys947Trp)
c.2422T>G
c.2778T>G (p.Cys926Trp)
c.2901T>G (p.Cys967Trp)
c.2838T>G (p.Cys946Trp)
n.2977T>G
c.2520T>G (p.Cys840Trp)
n.2911T>G
n.2859T>G
Xg.71392629C>ACA413524654TAF1c.2128C>A (p.Leu710Met)
c.2842C>A (p.Leu948Met)
c.2423C>A
c.2779C>A (p.Leu927Met)
c.2902C>A (p.Leu968Met)
c.2839C>A (p.Leu947Met)
n.2978C>A
c.2521C>A (p.Leu841Met)
n.2912C>A
n.2860C>A
Xg.71392629C>GCA413524655TAF1c.2128C>G (p.Leu710Val)
c.2842C>G (p.Leu948Val)
c.2423C>G
c.2779C>G (p.Leu927Val)
c.2902C>G (p.Leu968Val)
c.2839C>G (p.Leu947Val)
n.2978C>G
c.2521C>G (p.Leu841Val)
n.2912C>G
n.2860C>G
Xg.71392629C>TCA516727894TAF1c.2128C>T (p.Leu710=)
c.2842C>T (p.Leu948=)
c.2423C>T
c.2779C>T (p.Leu927=)
c.2902C>T (p.Leu968=)
c.2839C>T (p.Leu947=)
n.2978C>T
c.2521C>T (p.Leu841=)
n.2912C>T
n.2860C>T
Xg.71392630T>ACA413524660TAF1c.2129T>A (p.Leu710Gln)
c.2843T>A (p.Leu948Gln)
c.2424T>A
c.2780T>A (p.Leu927Gln)
c.2903T>A (p.Leu968Gln)
c.2840T>A (p.Leu947Gln)
n.2979T>A
c.2522T>A (p.Leu841Gln)
n.2913T>A
n.2861T>A
Xg.71392630T>CCA413524664TAF1c.2129T>C (p.Leu710Pro)
c.2843T>C (p.Leu948Pro)
c.2424T>C
c.2780T>C (p.Leu927Pro)
c.2903T>C (p.Leu968Pro)
c.2840T>C (p.Leu947Pro)
n.2979T>C
c.2522T>C (p.Leu841Pro)
n.2913T>C
n.2861T>C
Xg.71392630T>GCA413524666TAF1c.2129T>G (p.Leu710Arg)
c.2843T>G (p.Leu948Arg)
c.2424T>G
c.2780T>G (p.Leu927Arg)
c.2903T>G (p.Leu968Arg)
c.2840T>G (p.Leu947Arg)
n.2979T>G
c.2522T>G (p.Leu841Arg)
n.2913T>G
n.2861T>G
Xg.71392631G>ACA516727895TAF1c.2130G>A (p.Leu710=)
c.2844G>A (p.Leu948=)
c.2425G>A
c.2781G>A (p.Leu927=)
c.2904G>A (p.Leu968=)
c.2841G>A (p.Leu947=)
n.2980G>A
c.2523G>A (p.Leu841=)
n.2914G>A
n.2862G>A
dbSNP gnomAD v4
Xg.71392631G>CCA516727896TAF1c.2130G>C (p.Leu710=)
c.2844G>C (p.Leu948=)
c.2425G>C
c.2781G>C (p.Leu927=)
c.2904G>C (p.Leu968=)
c.2841G>C (p.Leu947=)
n.2980G>C
c.2523G>C (p.Leu841=)
n.2914G>C
n.2862G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.71392631G=CA2436448096TAF1c.2130G= (p.Leu710=)
c.2844G= (p.Leu948=)
c.2425G=
c.2781G= (p.Leu927=)
c.2904G= (p.Leu968=)
c.2841G= (p.Leu947=)
n.2980G=
c.2523G= (p.Leu841=)
n.2914G=
n.2862G=
Xg.71392631G>TCA516727897TAF1c.2130G>T (p.Leu710=)
c.2844G>T (p.Leu948=)
c.2425G>T
c.2781G>T (p.Leu927=)
c.2904G>T (p.Leu968=)
c.2841G>T (p.Leu947=)
n.2980G>T
c.2523G>T (p.Leu841=)
n.2914G>T
n.2862G>T
Xg.71392632C>ACA413524670TAF1c.2131C>A (p.Leu711Ile)
c.2845C>A (p.Leu949Ile)
c.2426C>A
c.2782C>A (p.Leu928Ile)
c.2905C>A (p.Leu969Ile)
c.2842C>A (p.Leu948Ile)
n.2981C>A
c.2524C>A (p.Leu842Ile)
n.2915C>A
n.2863C>A
Xg.71392632C>GCA413524673TAF1c.2131C>G (p.Leu711Val)
c.2845C>G (p.Leu949Val)
c.2426C>G
c.2782C>G (p.Leu928Val)
c.2905C>G (p.Leu969Val)
c.2842C>G (p.Leu948Val)
n.2981C>G
c.2524C>G (p.Leu842Val)
n.2915C>G
n.2863C>G
Xg.71392632C>TCA516727900TAF1c.2131C>T (p.Leu711=)
c.2845C>T (p.Leu949=)
c.2426C>T
c.2782C>T (p.Leu928=)
c.2905C>T (p.Leu969=)
c.2842C>T (p.Leu948=)
n.2981C>T
c.2524C>T (p.Leu842=)
n.2915C>T
n.2863C>T
Xg.71392633T>ACA413524680TAF1c.2132T>A (p.Leu711Gln)
c.2846T>A (p.Leu949Gln)
c.2427T>A
c.2783T>A (p.Leu928Gln)
c.2906T>A (p.Leu969Gln)
c.2843T>A (p.Leu948Gln)
n.2982T>A
c.2525T>A (p.Leu842Gln)
n.2916T>A
n.2864T>A
Xg.71392633T>CCA413524682TAF1c.2132T>C (p.Leu711Pro)
c.2846T>C (p.Leu949Pro)
c.2427T>C
c.2783T>C (p.Leu928Pro)
c.2906T>C (p.Leu969Pro)
c.2843T>C (p.Leu948Pro)
n.2982T>C
c.2525T>C (p.Leu842Pro)
n.2916T>C
n.2864T>C
Xg.71392633T>GCA413524692TAF1c.2132T>G (p.Leu711Arg)
c.2846T>G (p.Leu949Arg)
c.2427T>G
c.2783T>G (p.Leu928Arg)
c.2906T>G (p.Leu969Arg)
c.2843T>G (p.Leu948Arg)
n.2982T>G
c.2525T>G (p.Leu842Arg)
n.2916T>G
n.2864T>G
COSMIC COSMIC COSMIC
Xg.71392634A>CCA516727905TAF1c.2133A>C (p.Leu711=)
c.2847A>C (p.Leu949=)
c.2428A>C
c.2784A>C (p.Leu928=)
c.2907A>C (p.Leu969=)
c.2844A>C (p.Leu948=)
n.2983A>C
c.2526A>C (p.Leu842=)
n.2917A>C
n.2865A>C
Xg.71392634A>GCA516727906TAF1c.2133A>G (p.Leu711=)
c.2847A>G (p.Leu949=)
c.2428A>G
c.2784A>G (p.Leu928=)
c.2907A>G (p.Leu969=)
c.2844A>G (p.Leu948=)
n.2983A>G
c.2526A>G (p.Leu842=)
n.2917A>G
n.2865A>G
Xg.71392634A>TCA516727907TAF1c.2133A>T (p.Leu711=)
c.2847A>T (p.Leu949=)
c.2428A>T
c.2784A>T (p.Leu928=)
c.2907A>T (p.Leu969=)
c.2844A>T (p.Leu948=)
n.2983A>T
c.2526A>T (p.Leu842=)
n.2917A>T
n.2865A>T
Xg.71392635G>ACA413524696TAF1c.2134G>A (p.Glu712Lys)
c.2848G>A (p.Glu950Lys)
c.2429G>A
c.2785G>A (p.Glu929Lys)
c.2908G>A (p.Glu970Lys)
c.2845G>A (p.Glu949Lys)
n.2984G>A
c.2527G>A (p.Glu843Lys)
n.2918G>A
n.2866G>A
Xg.71392635G>CCA413524700TAF1c.2134G>C (p.Glu712Gln)
c.2848G>C (p.Glu950Gln)
c.2429G>C
c.2785G>C (p.Glu929Gln)
c.2908G>C (p.Glu970Gln)
c.2845G>C (p.Glu949Gln)
n.2984G>C
c.2527G>C (p.Glu843Gln)
n.2918G>C
n.2866G>C
Xg.71392635G>TCA413524703TAF1c.2134G>T (p.Glu712Ter)
c.2848G>T (p.Glu950Ter)
c.2429G>T
c.2785G>T (p.Glu929Ter)
c.2908G>T (p.Glu970Ter)
c.2845G>T (p.Glu949Ter)
n.2984G>T
c.2527G>T (p.Glu843Ter)
n.2918G>T
n.2866G>T
Xg.71392636A>CCA413524705TAF1c.2135A>C (p.Glu712Ala)
c.2849A>C (p.Glu950Ala)
c.2430A>C
c.2786A>C (p.Glu929Ala)
c.2909A>C (p.Glu970Ala)
c.2846A>C (p.Glu949Ala)
n.2985A>C
c.2528A>C (p.Glu843Ala)
n.2919A>C
n.2867A>C
Xg.71392636A>GCA413524707TAF1c.2135A>G (p.Glu712Gly)
c.2849A>G (p.Glu950Gly)
c.2430A>G
c.2786A>G (p.Glu929Gly)
c.2909A>G (p.Glu970Gly)
c.2846A>G (p.Glu949Gly)
n.2985A>G
c.2528A>G (p.Glu843Gly)
n.2919A>G
n.2867A>G
Xg.71392636A>TCA413524709TAF1c.2135A>T (p.Glu712Val)
c.2849A>T (p.Glu950Val)
c.2430A>T
c.2786A>T (p.Glu929Val)
c.2909A>T (p.Glu970Val)
c.2846A>T (p.Glu949Val)
n.2985A>T
c.2528A>T (p.Glu843Val)
n.2919A>T
n.2867A>T
Xg.71392637G>ACA516727914TAF1c.2136G>A (p.Glu712=)
c.2850G>A (p.Glu950=)
c.2431G>A
c.2787G>A (p.Glu929=)
c.2910G>A (p.Glu970=)
c.2847G>A (p.Glu949=)
n.2986G>A
c.2529G>A (p.Glu843=)
n.2920G>A
n.2868G>A
Xg.71392637G>CCA413524712TAF1c.2136G>C (p.Glu712Asp)
c.2850G>C (p.Glu950Asp)
c.2431G>C
c.2787G>C (p.Glu929Asp)
c.2910G>C (p.Glu970Asp)
c.2847G>C (p.Glu949Asp)
n.2986G>C
c.2529G>C (p.Glu843Asp)
n.2920G>C
n.2868G>C
Xg.71392637G>TCA413524715TAF1c.2136G>T (p.Glu712Asp)
c.2850G>T (p.Glu950Asp)
c.2431G>T
c.2787G>T (p.Glu929Asp)
c.2910G>T (p.Glu970Asp)
c.2847G>T (p.Glu949Asp)
n.2986G>T
c.2529G>T (p.Glu843Asp)
n.2920G>T
n.2868G>T
Xg.71392638G>ACA413524731TAF1c.2137G>A (p.Val713Met)
c.2851G>A (p.Val951Met)
c.2432G>A
c.2788G>A (p.Val930Met)
c.2911G>A (p.Val971Met)
c.2848G>A (p.Val950Met)
n.2987G>A
c.2530G>A (p.Val844Met)
n.2921G>A
n.2869G>A
dbSNP gnomAD v3 gnomAD v4
Xg.71392638G>CCA413524747TAF1c.2137G>C (p.Val713Leu)
c.2851G>C (p.Val951Leu)
c.2432G>C
c.2788G>C (p.Val930Leu)
c.2911G>C (p.Val971Leu)
c.2848G>C (p.Val950Leu)
n.2987G>C
c.2530G>C (p.Val844Leu)
n.2921G>C
n.2869G>C
Xg.71392638G=CA2436448097TAF1c.2137G= (p.Val713=)
c.2851G= (p.Val951=)
c.2432G=
c.2788G= (p.Val930=)
c.2911G= (p.Val971=)
c.2848G= (p.Val950=)
n.2987G=
c.2530G= (p.Val844=)
n.2921G=
n.2869G=
Xg.71392638G>TCA413524727TAF1c.2137G>T (p.Val713Leu)
c.2851G>T (p.Val951Leu)
c.2432G>T
c.2788G>T (p.Val930Leu)
c.2911G>T (p.Val971Leu)
c.2848G>T (p.Val950Leu)
n.2987G>T
c.2530G>T (p.Val844Leu)
n.2921G>T
n.2869G>T
Xg.71392639T>ACA413524766TAF1c.2138T>A (p.Val713Glu)
c.2852T>A (p.Val951Glu)
c.2433T>A
c.2789T>A (p.Val930Glu)
c.2912T>A (p.Val971Glu)
c.2849T>A (p.Val950Glu)
n.2988T>A
c.2531T>A (p.Val844Glu)
n.2922T>A
n.2870T>A
Xg.71392639T>CCA413524768TAF1c.2138T>C (p.Val713Ala)
c.2852T>C (p.Val951Ala)
c.2433T>C
c.2789T>C (p.Val930Ala)
c.2912T>C (p.Val971Ala)
c.2849T>C (p.Val950Ala)
n.2988T>C
c.2531T>C (p.Val844Ala)
n.2922T>C
n.2870T>C
Xg.71392639T>GCA413524773TAF1c.2138T>G (p.Val713Gly)
c.2852T>G (p.Val951Gly)
c.2433T>G
c.2789T>G (p.Val930Gly)
c.2912T>G (p.Val971Gly)
c.2849T>G (p.Val950Gly)
n.2988T>G
c.2531T>G (p.Val844Gly)
n.2922T>G
n.2870T>G
Xg.71392640G>ACA516727919TAF1c.2139G>A (p.Val713=)
c.2853G>A (p.Val951=)
c.2434G>A
c.2790G>A (p.Val930=)
c.2913G>A (p.Val971=)
c.2850G>A (p.Val950=)
n.2989G>A
c.2532G>A (p.Val844=)
n.2923G>A
n.2871G>A
Xg.71392640G>CCA516727920TAF1c.2139G>C (p.Val713=)
c.2853G>C (p.Val951=)
c.2434G>C
c.2790G>C (p.Val930=)
c.2913G>C (p.Val971=)
c.2850G>C (p.Val950=)
n.2989G>C
c.2532G>C (p.Val844=)
n.2923G>C
n.2871G>C
Xg.71392640G>TCA516727921TAF1c.2139G>T (p.Val713=)
c.2853G>T (p.Val951=)
c.2434G>T
c.2790G>T (p.Val930=)
c.2913G>T (p.Val971=)
c.2850G>T (p.Val950=)
n.2989G>T
c.2532G>T (p.Val844=)
n.2923G>T
n.2871G>T
COSMIC COSMIC
Xg.71392641A>CCA413524776TAF1c.2140A>C (p.Thr714Pro)
c.2854A>C (p.Thr952Pro)
c.2435A>C
c.2791A>C (p.Thr931Pro)
c.2914A>C (p.Thr972Pro)
c.2851A>C (p.Thr951Pro)
n.2990A>C
c.2533A>C (p.Thr845Pro)
n.2924A>C
n.2872A>C
Xg.71392641A>GCA413524782TAF1c.2140A>G (p.Thr714Ala)
c.2854A>G (p.Thr952Ala)
c.2435A>G
c.2791A>G (p.Thr931Ala)
c.2914A>G (p.Thr972Ala)
c.2851A>G (p.Thr951Ala)
n.2990A>G
c.2533A>G (p.Thr845Ala)
n.2924A>G
n.2872A>G
Xg.71392641A>TCA413524786TAF1c.2140A>T (p.Thr714Ser)
c.2854A>T (p.Thr952Ser)
c.2435A>T
c.2791A>T (p.Thr931Ser)
c.2914A>T (p.Thr972Ser)
c.2851A>T (p.Thr951Ser)
n.2990A>T
c.2533A>T (p.Thr845Ser)
n.2924A>T
n.2872A>T
Xg.71392642C>ACA331017836TAF1c.2141C>A (p.Thr714Asn)
c.2855C>A (p.Thr952Asn)
c.2436C>A
c.2792C>A (p.Thr931Asn)
c.2915C>A (p.Thr972Asn)
c.2852C>A (p.Thr951Asn)
n.2991C>A
c.2534C>A (p.Thr845Asn)
n.2925C>A
n.2873C>A
dbSNP
Xg.71392642C=CA2436448098TAF1c.2141C= (p.Thr714=)
c.2855C= (p.Thr952=)
c.2436C=
c.2792C= (p.Thr931=)
c.2915C= (p.Thr972=)
c.2852C= (p.Thr951=)
n.2991C=
c.2534C= (p.Thr845=)
n.2925C=
n.2873C=
Xg.71392642C>GCA413524791TAF1c.2141C>G (p.Thr714Ser)
c.2855C>G (p.Thr952Ser)
c.2436C>G
c.2792C>G (p.Thr931Ser)
c.2915C>G (p.Thr972Ser)
c.2852C>G (p.Thr951Ser)
n.2991C>G
c.2534C>G (p.Thr845Ser)
n.2925C>G
n.2873C>G
Xg.71392642C>TCA413524797TAF1c.2141C>T (p.Thr714Ile)
c.2855C>T (p.Thr952Ile)
c.2436C>T
c.2792C>T (p.Thr931Ile)
c.2915C>T (p.Thr972Ile)
c.2852C>T (p.Thr951Ile)
n.2991C>T
c.2534C>T (p.Thr845Ile)
n.2925C>T
n.2873C>T
Xg.71392643T>ACA516727926TAF1c.2142T>A (p.Thr714=)
c.2856T>A (p.Thr952=)
c.2437T>A
c.2793T>A (p.Thr931=)
c.2916T>A (p.Thr972=)
c.2853T>A (p.Thr951=)
n.2992T>A
c.2535T>A (p.Thr845=)
n.2926T>A
n.2874T>A
Xg.71392643T>CCA516727928TAF1c.2142T>C (p.Thr714=)
c.2856T>C (p.Thr952=)
c.2437T>C
c.2793T>C (p.Thr931=)
c.2916T>C (p.Thr972=)
c.2853T>C (p.Thr951=)
n.2992T>C
c.2535T>C (p.Thr845=)
n.2926T>C
n.2874T>C
gnomAD v4
Xg.71392643T>GCA516727929TAF1c.2142T>G (p.Thr714=)
c.2856T>G (p.Thr952=)
c.2437T>G
c.2793T>G (p.Thr931=)
c.2916T>G (p.Thr972=)
c.2853T>G (p.Thr951=)
n.2992T>G
c.2535T>G (p.Thr845=)
n.2926T>G
n.2874T>G
Xg.71392644G>ACA413524799TAF1c.2143G>A (p.Gly715Arg)
c.2857G>A (p.Gly953Arg)
c.2438G>A
c.2794G>A (p.Gly932Arg)
c.2917G>A (p.Gly973Arg)
c.2854G>A (p.Gly952Arg)
n.2993G>A
c.2536G>A (p.Gly846Arg)
n.2927G>A
n.2875G>A
ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.71392644G>CCA413524800TAF1c.2143G>C (p.Gly715Arg)
c.2857G>C (p.Gly953Arg)
c.2438G>C
c.2794G>C (p.Gly932Arg)
c.2917G>C (p.Gly973Arg)
c.2854G>C (p.Gly952Arg)
n.2993G>C
c.2536G>C (p.Gly846Arg)
n.2927G>C
n.2875G>C
Xg.71392644G>TCA413524801TAF1c.2143G>T (p.Gly715Trp)
c.2857G>T (p.Gly953Trp)
c.2438G>T
c.2794G>T (p.Gly932Trp)
c.2917G>T (p.Gly973Trp)
c.2854G>T (p.Gly952Trp)
n.2993G>T
c.2536G>T (p.Gly846Trp)
n.2927G>T
n.2875G>T
Xg.71392647delCA2511198999TAF1c.2146del (p.Val716TrpfsTer14)
c.2860del (p.Val954TrpfsTer14)
c.2441del
c.2797del (p.Val933TrpfsTer14)
c.2920del (p.Val974TrpfsTer14)
c.2857del (p.Val953TrpfsTer14)
n.2996del
c.2539del (p.Val847TrpfsTer14)
n.2930del
n.2878del
Xg.71392645G>ACA413524804TAF1c.2144G>A (p.Gly715Glu)
c.2858G>A (p.Gly953Glu)
c.2439G>A
c.2795G>A (p.Gly932Glu)
c.2918G>A (p.Gly973Glu)
c.2855G>A (p.Gly952Glu)
n.2994G>A
c.2537G>A (p.Gly846Glu)
n.2928G>A
n.2876G>A
Xg.71392645G>CCA413524806TAF1c.2144G>C (p.Gly715Ala)
c.2858G>C (p.Gly953Ala)
c.2439G>C
c.2795G>C (p.Gly932Ala)
c.2918G>C (p.Gly973Ala)
c.2855G>C (p.Gly952Ala)
n.2994G>C
c.2537G>C (p.Gly846Ala)
n.2928G>C
n.2876G>C
Xg.71392645G>TCA413524802TAF1c.2144G>T (p.Gly715Val)
c.2858G>T (p.Gly953Val)
c.2439G>T
c.2795G>T (p.Gly932Val)
c.2918G>T (p.Gly973Val)
c.2855G>T (p.Gly952Val)
n.2994G>T
c.2537G>T (p.Gly846Val)
n.2928G>T
n.2876G>T
Xg.71392646G>ACA516727937TAF1c.2145G>A (p.Gly715=)
c.2859G>A (p.Gly953=)
c.2440G>A
c.2796G>A (p.Gly932=)
c.2919G>A (p.Gly973=)
c.2856G>A (p.Gly952=)
n.2995G>A
c.2538G>A (p.Gly846=)
n.2929G>A
n.2877G>A
Xg.71392646G>CCA516727936TAF1c.2145G>C (p.Gly715=)
c.2859G>C (p.Gly953=)
c.2440G>C
c.2796G>C (p.Gly932=)
c.2919G>C (p.Gly973=)
c.2856G>C (p.Gly952=)
n.2995G>C
c.2538G>C (p.Gly846=)
n.2929G>C
n.2877G>C
Xg.71392646G>TCA516727935TAF1c.2145G>T (p.Gly715=)
c.2859G>T (p.Gly953=)
c.2440G>T
c.2796G>T (p.Gly932=)
c.2919G>T (p.Gly973=)
c.2856G>T (p.Gly952=)
n.2995G>T
c.2538G>T (p.Gly846=)
n.2929G>T
n.2877G>T
Xg.71392647G>ACA413524812TAF1c.2146G>A (p.Val716Met)
c.2860G>A (p.Val954Met)
c.2441G>A
c.2797G>A (p.Val933Met)
c.2920G>A (p.Val974Met)
c.2857G>A (p.Val953Met)
n.2996G>A
c.2539G>A (p.Val847Met)
n.2930G>A
n.2878G>A
Xg.71392647G>CCA413524814TAF1c.2146G>C (p.Val716Leu)
c.2860G>C (p.Val954Leu)
c.2441G>C
c.2797G>C (p.Val933Leu)
c.2920G>C (p.Val974Leu)
c.2857G>C (p.Val953Leu)
n.2996G>C
c.2539G>C (p.Val847Leu)
n.2930G>C
n.2878G>C
Xg.71392647G>TCA413524818TAF1c.2146G>T (p.Val716Leu)
c.2860G>T (p.Val954Leu)
c.2441G>T
c.2797G>T (p.Val933Leu)
c.2920G>T (p.Val974Leu)
c.2857G>T (p.Val953Leu)
n.2996G>T
c.2539G>T (p.Val847Leu)
n.2930G>T
n.2878G>T
gnomAD v4
Xg.71392648T>ACA413524820TAF1c.2147T>A (p.Val716Glu)
c.2861T>A (p.Val954Glu)
c.2442T>A
c.2798T>A (p.Val933Glu)
c.2921T>A (p.Val974Glu)
c.2858T>A (p.Val953Glu)
n.2997T>A
c.2540T>A (p.Val847Glu)
n.2931T>A
n.2879T>A
Xg.71392648T>CCA413524822TAF1c.2147T>C (p.Val716Ala)
c.2861T>C (p.Val954Ala)
c.2442T>C
c.2798T>C (p.Val933Ala)
c.2921T>C (p.Val974Ala)
c.2858T>C (p.Val953Ala)
n.2997T>C
c.2540T>C (p.Val847Ala)
n.2931T>C
n.2879T>C
Xg.71392648T>GCA413524824TAF1c.2147T>G (p.Val716Gly)
c.2861T>G (p.Val954Gly)
c.2442T>G
c.2798T>G (p.Val933Gly)
c.2921T>G (p.Val974Gly)
c.2858T>G (p.Val953Gly)
n.2997T>G
c.2540T>G (p.Val847Gly)
n.2931T>G
n.2879T>G
Xg.71392649G>ACA516727944TAF1c.2148G>A (p.Val716=)
c.2862G>A (p.Val954=)
c.2443G>A
c.2799G>A (p.Val933=)
c.2922G>A (p.Val974=)
c.2859G>A (p.Val953=)
n.2998G>A
c.2541G>A (p.Val847=)
n.2932G>A
n.2880G>A
Xg.71392649G>CCA516727946TAF1c.2148G>C (p.Val716=)
c.2862G>C (p.Val954=)
c.2443G>C
c.2799G>C (p.Val933=)
c.2922G>C (p.Val974=)
c.2859G>C (p.Val953=)
n.2998G>C
c.2541G>C (p.Val847=)
n.2932G>C
n.2880G>C
Xg.71392649G>TCA516727947TAF1c.2148G>T (p.Val716=)
c.2862G>T (p.Val954=)
c.2443G>T
c.2799G>T (p.Val933=)
c.2922G>T (p.Val974=)
c.2859G>T (p.Val953=)
n.2998G>T
c.2541G>T (p.Val847=)
n.2932G>T
n.2880G>T
Xg.71392650G>ACA413524834TAF1c.2149G>A (p.Ala717Thr)
c.2863G>A (p.Ala955Thr)
c.2444G>A
c.2800G>A (p.Ala934Thr)
c.2923G>A (p.Ala975Thr)
c.2860G>A (p.Ala954Thr)
n.2999G>A
c.2542G>A (p.Ala848Thr)
n.2933G>A
n.2881G>A
Xg.71392650G>CCA413524827TAF1c.2149G>C (p.Ala717Pro)
c.2863G>C (p.Ala955Pro)
c.2444G>C
c.2800G>C (p.Ala934Pro)
c.2923G>C (p.Ala975Pro)
c.2860G>C (p.Ala954Pro)
n.2999G>C
c.2542G>C (p.Ala848Pro)
n.2933G>C
n.2881G>C
Xg.71392650G>TCA413524830TAF1c.2149G>T (p.Ala717Ser)
c.2863G>T (p.Ala955Ser)
c.2444G>T
c.2800G>T (p.Ala934Ser)
c.2923G>T (p.Ala975Ser)
c.2860G>T (p.Ala954Ser)
n.2999G>T
c.2542G>T (p.Ala848Ser)
n.2933G>T
n.2881G>T
Xg.71392651C>ACA413524844TAF1c.2150C>A (p.Ala717Glu)
c.2864C>A (p.Ala955Glu)
c.2445C>A
c.2801C>A (p.Ala934Glu)
c.2924C>A (p.Ala975Glu)
c.2861C>A (p.Ala954Glu)
n.3000C>A
c.2543C>A (p.Ala848Glu)
n.2934C>A
n.2882C>A
Xg.71392651C>GCA413524852TAF1c.2150C>G (p.Ala717Gly)
c.2864C>G (p.Ala955Gly)
c.2445C>G
c.2801C>G (p.Ala934Gly)
c.2924C>G (p.Ala975Gly)
c.2861C>G (p.Ala954Gly)
n.3000C>G
c.2543C>G (p.Ala848Gly)
n.2934C>G
n.2882C>G
Xg.71392651C>TCA413524854TAF1c.2150C>T (p.Ala717Val)
c.2864C>T (p.Ala955Val)
c.2445C>T
c.2801C>T (p.Ala934Val)
c.2924C>T (p.Ala975Val)
c.2861C>T (p.Ala954Val)
n.3000C>T
c.2543C>T (p.Ala848Val)
n.2934C>T
n.2882C>T
Xg.71392652A>CCA516727955TAF1c.2151A>C (p.Ala717=)
c.2865A>C (p.Ala955=)
c.2446A>C
c.2802A>C (p.Ala934=)
c.2925A>C (p.Ala975=)
c.2862A>C (p.Ala954=)
n.3001A>C
c.2544A>C (p.Ala848=)
n.2935A>C
n.2883A>C
gnomAD v4
Xg.71392652A>GCA516727960TAF1c.2151A>G (p.Ala717=)
c.2865A>G (p.Ala955=)
c.2446A>G
c.2802A>G (p.Ala934=)
c.2925A>G (p.Ala975=)
c.2862A>G (p.Ala954=)
n.3001A>G
c.2544A>G (p.Ala848=)
n.2935A>G
n.2883A>G
Xg.71392652A>TCA516727957TAF1c.2151A>T (p.Ala717=)
c.2865A>T (p.Ala955=)
c.2446A>T
c.2802A>T (p.Ala934=)
c.2925A>T (p.Ala975=)
c.2862A>T (p.Ala954=)
n.3001A>T
c.2544A>T (p.Ala848=)
n.2935A>T
n.2883A>T
Xg.71392653G>ACA413524863TAF1c.2152G>A (p.Asp718Asn)
c.2866G>A (p.Asp956Asn)
c.2447G>A
c.2803G>A (p.Asp935Asn)
c.2926G>A (p.Asp976Asn)
c.2863G>A (p.Asp955Asn)
n.3002G>A
c.2545G>A (p.Asp849Asn)
n.2936G>A
n.2884G>A
Xg.71392653G>CCA279942TAF1c.2152G>C (p.Asp718His)
c.2866G>C (p.Asp956His)
c.2447G>C
c.2803G>C (p.Asp935His)
c.2926G>C (p.Asp976His)
c.2863G>C (p.Asp955His)
n.3002G>C
c.2545G>C (p.Asp849His)
n.2936G>C
n.2884G>C
ClinVar dbSNP
Xg.71392653G=CA2436448099TAF1c.2152G= (p.Asp718=)
c.2866G= (p.Asp956=)
c.2447G=
c.2803G= (p.Asp935=)
c.2926G= (p.Asp976=)
c.2863G= (p.Asp955=)
n.3002G=
c.2545G= (p.Asp849=)
n.2936G=
n.2884G=
Xg.71392653G>TCA413524867TAF1c.2152G>T (p.Asp718Tyr)
c.2866G>T (p.Asp956Tyr)
c.2447G>T
c.2803G>T (p.Asp935Tyr)
c.2926G>T (p.Asp976Tyr)
c.2863G>T (p.Asp955Tyr)
n.3002G>T
c.2545G>T (p.Asp849Tyr)
n.2936G>T
n.2884G>T
Xg.71392654A>CCA413524875TAF1c.2153A>C (p.Asp718Ala)
c.2867A>C (p.Asp956Ala)
c.2448A>C
c.2804A>C (p.Asp935Ala)
c.2927A>C (p.Asp976Ala)
c.2864A>C (p.Asp955Ala)
n.3003A>C
c.2546A>C (p.Asp849Ala)
n.2937A>C
n.2885A>C
Xg.71392654A>GCA413524872TAF1c.2153A>G (p.Asp718Gly)
c.2867A>G (p.Asp956Gly)
c.2448A>G
c.2804A>G (p.Asp935Gly)
c.2927A>G (p.Asp976Gly)
c.2864A>G (p.Asp955Gly)
n.3003A>G
c.2546A>G (p.Asp849Gly)
n.2937A>G
n.2885A>G
Xg.71392654A>TCA413524871TAF1c.2153A>T (p.Asp718Val)
c.2867A>T (p.Asp956Val)
c.2448A>T
c.2804A>T (p.Asp935Val)
c.2927A>T (p.Asp976Val)
c.2864A>T (p.Asp955Val)
n.3003A>T
c.2546A>T (p.Asp849Val)
n.2937A>T
n.2885A>T
Xg.71392655T>ACA413524878TAF1c.2154T>A (p.Asp718Glu)
c.2868T>A (p.Asp956Glu)
c.2449T>A
c.2805T>A (p.Asp935Glu)
c.2928T>A (p.Asp976Glu)
c.2865T>A (p.Asp955Glu)
n.3004T>A
c.2547T>A (p.Asp849Glu)
n.2938T>A
n.2886T>A
Xg.71392655T>CCA516727967TAF1c.2154T>C (p.Asp718=)
c.2868T>C (p.Asp956=)
c.2449T>C
c.2805T>C (p.Asp935=)
c.2928T>C (p.Asp976=)
c.2865T>C (p.Asp955=)
n.3004T>C
c.2547T>C (p.Asp849=)
n.2938T>C
n.2886T>C
Xg.71392655T>GCA413524880TAF1c.2154T>G (p.Asp718Glu)
c.2868T>G (p.Asp956Glu)
c.2449T>G
c.2805T>G (p.Asp935Glu)
c.2928T>G (p.Asp976Glu)
c.2865T>G (p.Asp955Glu)
n.3004T>G
c.2547T>G (p.Asp849Glu)
n.2938T>G
n.2886T>G
Xg.71392656C>ACA413524888TAF1c.2155C>A (p.Pro719Thr)
c.2869C>A (p.Pro957Thr)
c.2450C>A
c.2806C>A (p.Pro936Thr)
c.2929C>A (p.Pro977Thr)
c.2866C>A (p.Pro956Thr)
n.3005C>A
c.2548C>A (p.Pro850Thr)
n.2939C>A
n.2887C>A
Xg.71392656C>GCA413524895TAF1c.2155C>G (p.Pro719Ala)
c.2869C>G (p.Pro957Ala)
c.2450C>G
c.2806C>G (p.Pro936Ala)
c.2929C>G (p.Pro977Ala)
c.2866C>G (p.Pro956Ala)
n.3005C>G
c.2548C>G (p.Pro850Ala)
n.2939C>G
n.2887C>G
Xg.71392656C>TCA413524892TAF1c.2155C>T (p.Pro719Ser)
c.2869C>T (p.Pro957Ser)
c.2450C>T
c.2806C>T (p.Pro936Ser)
c.2929C>T (p.Pro977Ser)
c.2866C>T (p.Pro956Ser)
n.3005C>T
c.2548C>T (p.Pro850Ser)
n.2939C>T
n.2887C>T
Xg.71392657C>ACA413524902TAF1c.2156C>A (p.Pro719His)
c.2870C>A (p.Pro957His)
c.2451C>A
c.2807C>A (p.Pro936His)
c.2930C>A (p.Pro977His)
c.2867C>A (p.Pro956His)
n.3006C>A
c.2549C>A (p.Pro850His)
n.2940C>A
n.2888C>A
Xg.71392657C>GCA413524910TAF1c.2156C>G (p.Pro719Arg)
c.2870C>G (p.Pro957Arg)
c.2451C>G
c.2807C>G (p.Pro936Arg)
c.2930C>G (p.Pro977Arg)
c.2867C>G (p.Pro956Arg)
n.3006C>G
c.2549C>G (p.Pro850Arg)
n.2940C>G
n.2888C>G
Xg.71392657C>TCA413524908TAF1c.2156C>T (p.Pro719Leu)
c.2870C>T (p.Pro957Leu)
c.2451C>T
c.2807C>T (p.Pro936Leu)
c.2930C>T (p.Pro977Leu)
c.2867C>T (p.Pro956Leu)
n.3006C>T
c.2549C>T (p.Pro850Leu)
n.2940C>T
n.2888C>T
Xg.71392658C>ACA516727973TAF1c.2157C>A (p.Pro719=)
c.2871C>A (p.Pro957=)
c.2452C>A
c.2808C>A (p.Pro936=)
c.2931C>A (p.Pro977=)
c.2868C>A (p.Pro956=)
n.3007C>A
c.2550C>A (p.Pro850=)
n.2941C>A
n.2889C>A
Xg.71392658C=CA2436448100TAF1c.2157C= (p.Pro719=)
c.2871C= (p.Pro957=)
c.2452C=
c.2808C= (p.Pro936=)
c.2931C= (p.Pro977=)
c.2868C= (p.Pro956=)
n.3007C=
c.2550C= (p.Pro850=)
n.2941C=
n.2889C=
Xg.71392658C>GCA516727976TAF1c.2157C>G (p.Pro719=)
c.2871C>G (p.Pro957=)
c.2452C>G
c.2808C>G (p.Pro936=)
c.2931C>G (p.Pro977=)
c.2868C>G (p.Pro956=)
n.3007C>G
c.2550C>G (p.Pro850=)
n.2941C>G
n.2889C>G
Xg.71392658C>TCA331017849TAF1c.2157C>T (p.Pro719=)
c.2871C>T (p.Pro957=)
c.2452C>T
c.2808C>T (p.Pro936=)
c.2931C>T (p.Pro977=)
c.2868C>T (p.Pro956=)
n.3007C>T
c.2550C>T (p.Pro850=)
n.2941C>T
n.2889C>T
ClinVar dbSNP gnomAD v4
Xg.71392659A=CA2436448101TAF1c.2158A= (p.Thr720=)
c.2872A= (p.Thr958=)
c.2453A=
c.2809A= (p.Thr937=)
c.2932A= (p.Thr978=)
c.2869A= (p.Thr957=)
n.3008A=
c.2551A= (p.Thr851=)
n.2942A=
n.2890A=
Xg.71392659A>CCA413524913TAF1c.2158A>C (p.Thr720Pro)
c.2872A>C (p.Thr958Pro)
c.2453A>C
c.2809A>C (p.Thr937Pro)
c.2932A>C (p.Thr978Pro)
c.2869A>C (p.Thr957Pro)
n.3008A>C
c.2551A>C (p.Thr851Pro)
n.2942A>C
n.2890A>C
Xg.71392659A>GCA413524914TAF1c.2158A>G (p.Thr720Ala)
c.2872A>G (p.Thr958Ala)
c.2453A>G
c.2809A>G (p.Thr937Ala)
c.2932A>G (p.Thr978Ala)
c.2869A>G (p.Thr957Ala)
n.3008A>G
c.2551A>G (p.Thr851Ala)
n.2942A>G
n.2890A>G
dbSNP
Xg.71392659A>TCA413524915TAF1c.2158A>T (p.Thr720Ser)
c.2872A>T (p.Thr958Ser)
c.2453A>T
c.2809A>T (p.Thr937Ser)
c.2932A>T (p.Thr978Ser)
c.2869A>T (p.Thr957Ser)
n.3008A>T
c.2551A>T (p.Thr851Ser)
n.2942A>T
n.2890A>T
Xg.71392660C>ACA413524919TAF1c.2159C>A (p.Thr720Lys)
c.2873C>A (p.Thr958Lys)
c.2454C>A
c.2810C>A (p.Thr937Lys)
c.2933C>A (p.Thr978Lys)
c.2870C>A (p.Thr957Lys)
n.3009C>A
c.2552C>A (p.Thr851Lys)
n.2943C>A
n.2891C>A
Xg.71392660C=CA2436448102TAF1c.2159C= (p.Thr720=)
c.2873C= (p.Thr958=)
c.2454C=
c.2810C= (p.Thr937=)
c.2933C= (p.Thr978=)
c.2870C= (p.Thr957=)
n.3009C=
c.2552C= (p.Thr851=)
n.2943C=
n.2891C=
Xg.71392660C>GCA413524924TAF1c.2159C>G (p.Thr720Arg)
c.2873C>G (p.Thr958Arg)
c.2454C>G
c.2810C>G (p.Thr937Arg)
c.2933C>G (p.Thr978Arg)
c.2870C>G (p.Thr957Arg)
n.3009C>G
c.2552C>G (p.Thr851Arg)
n.2943C>G
n.2891C>G
Xg.71392660C>TCA413524929TAF1c.2159C>T (p.Thr720Met)
c.2873C>T (p.Thr958Met)
c.2454C>T
c.2810C>T (p.Thr937Met)
c.2933C>T (p.Thr978Met)
c.2870C>T (p.Thr957Met)
n.3009C>T
c.2552C>T (p.Thr851Met)
n.2943C>T
n.2891C>T
ClinVar dbSNP
Xg.71392661G>ACA10446947TAF1c.2160G>A (p.Thr720=)
c.2874G>A (p.Thr958=)
c.2455G>A
c.2811G>A (p.Thr937=)
c.2934G>A (p.Thr978=)
c.2871G>A (p.Thr957=)
n.3010G>A
c.2553G>A (p.Thr851=)
n.2944G>A
n.2892G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.71392661G>CCA516727983TAF1c.2160G>C (p.Thr720=)
c.2874G>C (p.Thr958=)
c.2455G>C
c.2811G>C (p.Thr937=)
c.2934G>C (p.Thr978=)
c.2871G>C (p.Thr957=)
n.3010G>C
c.2553G>C (p.Thr851=)
n.2944G>C
n.2892G>C
gnomAD v4
Xg.71392661G=CA2436448103TAF1c.2160G= (p.Thr720=)
c.2874G= (p.Thr958=)
c.2455G=
c.2811G= (p.Thr937=)
c.2934G= (p.Thr978=)
c.2871G= (p.Thr957=)
n.3010G=
c.2553G= (p.Thr851=)
n.2944G=
n.2892G=
Xg.71392661G>TCA516727982TAF1c.2160G>T (p.Thr720=)
c.2874G>T (p.Thr958=)
c.2455G>T
c.2811G>T (p.Thr937=)
c.2934G>T (p.Thr978=)
c.2871G>T (p.Thr957=)
n.3010G>T
c.2553G>T (p.Thr851=)
n.2944G>T
n.2892G>T
COSMIC COSMIC COSMIC
Xg.71392662G>ACA413524935TAF1c.2161G>A (p.Gly721Arg)
c.2875G>A (p.Gly959Arg)
c.2456G>A
c.2812G>A (p.Gly938Arg)
c.2935G>A (p.Gly979Arg)
c.2872G>A (p.Gly958Arg)
n.3011G>A
c.2554G>A (p.Gly852Arg)
n.2945G>A
n.2893G>A
Xg.71392662G>CCA413524939TAF1c.2161G>C (p.Gly721Arg)
c.2875G>C (p.Gly959Arg)
c.2456G>C
c.2812G>C (p.Gly938Arg)
c.2935G>C (p.Gly979Arg)
c.2872G>C (p.Gly958Arg)
n.3011G>C
c.2554G>C (p.Gly852Arg)
n.2945G>C
n.2893G>C
Xg.71392662G>TCA413524942TAF1c.2161G>T (p.Gly721Trp)
c.2875G>T (p.Gly959Trp)
c.2456G>T
c.2812G>T (p.Gly938Trp)
c.2935G>T (p.Gly979Trp)
c.2872G>T (p.Gly958Trp)
n.3011G>T
c.2554G>T (p.Gly852Trp)
n.2945G>T
n.2893G>T
Xg.71392663G>ACA413524951TAF1c.2162G>A (p.Gly721Glu)
c.2876G>A (p.Gly959Glu)
c.2457G>A
c.2813G>A (p.Gly938Glu)
c.2936G>A (p.Gly979Glu)
c.2873G>A (p.Gly958Glu)
n.3012G>A
c.2555G>A (p.Gly852Glu)
n.2946G>A
n.2894G>A
Xg.71392663G>CCA413524950TAF1c.2162G>C (p.Gly721Ala)
c.2876G>C (p.Gly959Ala)
c.2457G>C
c.2813G>C (p.Gly938Ala)
c.2936G>C (p.Gly979Ala)
c.2873G>C (p.Gly958Ala)
n.3012G>C
c.2555G>C (p.Gly852Ala)
n.2946G>C
n.2894G>C
Xg.71392663G>TCA413524945TAF1c.2162G>T (p.Gly721Val)
c.2876G>T (p.Gly959Val)
c.2457G>T
c.2813G>T (p.Gly938Val)
c.2936G>T (p.Gly979Val)
c.2873G>T (p.Gly958Val)
n.3012G>T
c.2555G>T (p.Gly852Val)
n.2946G>T
n.2894G>T
Xg.71392664G>ACA516727987TAF1c.2163G>A (p.Gly721=)
c.2877G>A (p.Gly959=)
c.2458G>A
c.2814G>A (p.Gly938=)
c.2937G>A (p.Gly979=)
c.2874G>A (p.Gly958=)
n.3013G>A
c.2556G>A (p.Gly852=)
n.2947G>A
n.2895G>A
dbSNP gnomAD v2 gnomAD v4
Xg.71392664G>CCA516727988TAF1c.2163G>C (p.Gly721=)
c.2877G>C (p.Gly959=)
c.2458G>C
c.2814G>C (p.Gly938=)
c.2937G>C (p.Gly979=)
c.2874G>C (p.Gly958=)
n.3013G>C
c.2556G>C (p.Gly852=)
n.2947G>C
n.2895G>C
Xg.71392664G=CA2436448104TAF1c.2163G= (p.Gly721=)
c.2877G= (p.Gly959=)
c.2458G=
c.2814G= (p.Gly938=)
c.2937G= (p.Gly979=)
c.2874G= (p.Gly958=)
n.3013G=
c.2556G= (p.Gly852=)
n.2947G=
n.2895G=
Xg.71392664G>TCA516727989TAF1c.2163G>T (p.Gly721=)
c.2877G>T (p.Gly959=)
c.2458G>T
c.2814G>T (p.Gly938=)
c.2937G>T (p.Gly979=)
c.2874G>T (p.Gly958=)
n.3013G>T
c.2556G>T (p.Gly852=)
n.2947G>T
n.2895G>T
dbSNP gnomAD v2 gnomAD v4
Xg.71392665T>ACA413524952TAF1c.2164T>A (p.Cys722Ser)
c.2878T>A (p.Cys960Ser)
c.2459T>A
c.2815T>A (p.Cys939Ser)
c.2938T>A (p.Cys980Ser)
c.2875T>A (p.Cys959Ser)
n.3014T>A
c.2557T>A (p.Cys853Ser)
n.2948T>A
n.2896T>A
Xg.71392665T>CCA413524953TAF1c.2164T>C (p.Cys722Arg)
c.2878T>C (p.Cys960Arg)
c.2459T>C
c.2815T>C (p.Cys939Arg)
c.2938T>C (p.Cys980Arg)
c.2875T>C (p.Cys959Arg)
n.3014T>C
c.2557T>C (p.Cys853Arg)
n.2948T>C
n.2896T>C
Xg.71392665T>GCA413524956TAF1c.2164T>G (p.Cys722Gly)
c.2878T>G (p.Cys960Gly)
c.2459T>G
c.2815T>G (p.Cys939Gly)
c.2938T>G (p.Cys980Gly)
c.2875T>G (p.Cys959Gly)
n.3014T>G
c.2557T>G (p.Cys853Gly)
n.2948T>G
n.2896T>G
Xg.71392666G>ACA413524958TAF1c.2165G>A (p.Cys722Tyr)
c.2879G>A (p.Cys960Tyr)
c.2460G>A
c.2816G>A (p.Cys939Tyr)
c.2939G>A (p.Cys980Tyr)
c.2876G>A (p.Cys959Tyr)
n.3015G>A
c.2558G>A (p.Cys853Tyr)
n.2949G>A
n.2897G>A
Xg.71392666G>CCA413524964TAF1c.2165G>C (p.Cys722Ser)
c.2879G>C (p.Cys960Ser)
c.2460G>C
c.2816G>C (p.Cys939Ser)
c.2939G>C (p.Cys980Ser)
c.2876G>C (p.Cys959Ser)
n.3015G>C
c.2558G>C (p.Cys853Ser)
n.2949G>C
n.2897G>C
Xg.71392666G>TCA413524968TAF1c.2165G>T (p.Cys722Phe)
c.2879G>T (p.Cys960Phe)
c.2460G>T
c.2816G>T (p.Cys939Phe)
c.2939G>T (p.Cys980Phe)
c.2876G>T (p.Cys959Phe)
n.3015G>T
c.2558G>T (p.Cys853Phe)
n.2949G>T
n.2897G>T
Xg.71392667T>ACA413524972TAF1c.2166T>A (p.Cys722Ter)
c.2880T>A (p.Cys960Ter)
c.2461T>A
c.2817T>A (p.Cys939Ter)
c.2940T>A (p.Cys980Ter)
c.2877T>A (p.Cys959Ter)
n.3016T>A
c.2559T>A (p.Cys853Ter)
n.2950T>A
n.2898T>A
Xg.71392667T>CCA516727994TAF1c.2166T>C (p.Cys722=)
c.2880T>C (p.Cys960=)
c.2461T>C
c.2817T>C (p.Cys939=)
c.2940T>C (p.Cys980=)
c.2877T>C (p.Cys959=)
n.3016T>C
c.2559T>C (p.Cys853=)
n.2950T>C
n.2898T>C
Xg.71392667T>GCA413524973TAF1c.2166T>G (p.Cys722Trp)
c.2880T>G (p.Cys960Trp)
c.2461T>G
c.2817T>G (p.Cys939Trp)
c.2940T>G (p.Cys980Trp)
c.2877T>G (p.Cys959Trp)
n.3016T>G
c.2559T>G (p.Cys853Trp)
n.2950T>G
n.2898T>G
Xg.71392668G>ACA413524974TAF1c.2167G>A (p.Gly723Ser)
c.2881G>A (p.Gly961Ser)
c.2462G>A
c.2818G>A (p.Gly940Ser)
c.2941G>A (p.Gly981Ser)
c.2878G>A (p.Gly960Ser)
n.3017G>A
c.2560G>A (p.Gly854Ser)
n.2951G>A
n.2899G>A
Xg.71392668G>CCA413524975TAF1c.2167G>C (p.Gly723Arg)
c.2881G>C (p.Gly961Arg)
c.2462G>C
c.2818G>C (p.Gly940Arg)
c.2941G>C (p.Gly981Arg)
c.2878G>C (p.Gly960Arg)
n.3017G>C
c.2560G>C (p.Gly854Arg)
n.2951G>C
n.2899G>C
Xg.71392668G>TCA413524977TAF1c.2167G>T (p.Gly723Cys)
c.2881G>T (p.Gly961Cys)
c.2462G>T
c.2818G>T (p.Gly940Cys)
c.2941G>T (p.Gly981Cys)
c.2878G>T (p.Gly960Cys)
n.3017G>T
c.2560G>T (p.Gly854Cys)
n.2951G>T
n.2899G>T
COSMIC COSMIC
Xg.71392669G>ACA413524988TAF1c.2168G>A (p.Gly723Asp)
c.2882G>A (p.Gly961Asp)
c.2463G>A
c.2819G>A (p.Gly940Asp)
c.2942G>A (p.Gly981Asp)
c.2879G>A (p.Gly960Asp)
n.3018G>A
c.2561G>A (p.Gly854Asp)
n.2952G>A
n.2900G>A
Xg.71392669G>CCA413524983TAF1c.2168G>C (p.Gly723Ala)
c.2882G>C (p.Gly961Ala)
c.2463G>C
c.2819G>C (p.Gly940Ala)
c.2942G>C (p.Gly981Ala)
c.2879G>C (p.Gly960Ala)
n.3018G>C
c.2561G>C (p.Gly854Ala)
n.2952G>C
n.2900G>C
Xg.71392669G>TCA413524980TAF1c.2168G>T (p.Gly723Val)
c.2882G>T (p.Gly961Val)
c.2463G>T
c.2819G>T (p.Gly940Val)
c.2942G>T (p.Gly981Val)
c.2879G>T (p.Gly960Val)
n.3018G>T
c.2561G>T (p.Gly854Val)
n.2952G>T
n.2900G>T
COSMIC COSMIC
Xg.71392670T>ACA516728004TAF1c.2169T>A (p.Gly723=)
c.2883T>A (p.Gly961=)
c.2464T>A
c.2820T>A (p.Gly940=)
c.2943T>A (p.Gly981=)
c.2880T>A (p.Gly960=)
n.3019T>A
c.2562T>A (p.Gly854=)
n.2953T>A
n.2901T>A
gnomAD v4
Xg.71392670T>CCA516728005TAF1c.2169T>C (p.Gly723=)
c.2883T>C (p.Gly961=)
c.2464T>C
c.2820T>C (p.Gly940=)
c.2943T>C (p.Gly981=)
c.2880T>C (p.Gly960=)
n.3019T>C
c.2562T>C (p.Gly854=)
n.2953T>C
n.2901T>C
Xg.71392670T>GCA516728006TAF1c.2169T>G (p.Gly723=)
c.2883T>G (p.Gly961=)
c.2464T>G
c.2820T>G (p.Gly940=)
c.2943T>G (p.Gly981=)
c.2880T>G (p.Gly960=)
n.3019T>G
c.2562T>G (p.Gly854=)
n.2953T>G
n.2901T>G
gnomAD v4
Xg.71392671G>ACA413524992TAF1c.2170G>A (p.Glu724Lys)
c.2884G>A (p.Glu962Lys)
c.2465G>A
c.2821G>A (p.Glu941Lys)
c.2944G>A (p.Glu982Lys)
c.2881G>A (p.Glu961Lys)
n.3020G>A
c.2563G>A (p.Glu855Lys)
n.2954G>A
n.2902G>A
Xg.71392671G>CCA413524995TAF1c.2170G>C (p.Glu724Gln)
c.2884G>C (p.Glu962Gln)
c.2465G>C
c.2821G>C (p.Glu941Gln)
c.2944G>C (p.Glu982Gln)
c.2881G>C (p.Glu961Gln)
n.3020G>C
c.2563G>C (p.Glu855Gln)
n.2954G>C
n.2902G>C
Xg.71392671G>TCA413524998TAF1c.2170G>T (p.Glu724Ter)
c.2884G>T (p.Glu962Ter)
c.2465G>T
c.2821G>T (p.Glu941Ter)
c.2944G>T (p.Glu982Ter)
c.2881G>T (p.Glu961Ter)
n.3020G>T
c.2563G>T (p.Glu855Ter)
n.2954G>T
n.2902G>T
Xg.71392672A>CCA413525006TAF1c.2171A>C (p.Glu724Ala)
c.2885A>C (p.Glu962Ala)
c.2466A>C
c.2822A>C (p.Glu941Ala)
c.2945A>C (p.Glu982Ala)
c.2882A>C (p.Glu961Ala)
n.3021A>C
c.2564A>C (p.Glu855Ala)
n.2955A>C
n.2903A>C
Xg.71392672A>GCA413525008TAF1c.2171A>G (p.Glu724Gly)
c.2885A>G (p.Glu962Gly)
c.2466A>G
c.2822A>G (p.Glu941Gly)
c.2945A>G (p.Glu982Gly)
c.2882A>G (p.Glu961Gly)
n.3021A>G
c.2564A>G (p.Glu855Gly)
n.2955A>G
n.2903A>G
Xg.71392672A>TCA413525011TAF1c.2171A>T (p.Glu724Val)
c.2885A>T (p.Glu962Val)
c.2466A>T
c.2822A>T (p.Glu941Val)
c.2945A>T (p.Glu982Val)
c.2882A>T (p.Glu961Val)
n.3021A>T
c.2564A>T (p.Glu855Val)
n.2955A>T
n.2903A>T
Xg.71392673A=CA2436448105TAF1c.2172A= (p.Glu724=)
c.2886A= (p.Glu962=)
c.2467A=
c.2823A= (p.Glu941=)
c.2946A= (p.Glu982=)
c.2883A= (p.Glu961=)
n.3022A=
c.2565A= (p.Glu855=)
n.2956A=
n.2904A=
Xg.71392673A>CCA413525016TAF1c.2172A>C (p.Glu724Asp)
c.2886A>C (p.Glu962Asp)
c.2467A>C
c.2823A>C (p.Glu941Asp)
c.2946A>C (p.Glu982Asp)
c.2883A>C (p.Glu961Asp)
n.3022A>C
c.2565A>C (p.Glu855Asp)
n.2956A>C
n.2904A>C
Xg.71392673A>GCA331017855TAF1c.2172A>G (p.Glu724=)
c.2886A>G (p.Glu962=)
c.2467A>G
c.2823A>G (p.Glu941=)
c.2946A>G (p.Glu982=)
c.2883A>G (p.Glu961=)
n.3022A>G
c.2565A>G (p.Glu855=)
n.2956A>G
n.2904A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.71392673A>TCA413525019TAF1c.2172A>T (p.Glu724Asp)
c.2886A>T (p.Glu962Asp)
c.2467A>T
c.2823A>T (p.Glu941Asp)
c.2946A>T (p.Glu982Asp)
c.2883A>T (p.Glu961Asp)
n.3022A>T
c.2565A>T (p.Glu855Asp)
n.2956A>T
n.2904A>T
Xg.71392674G>ACA413525022TAF1c.2173G>A (p.Gly725Arg)
c.2887G>A (p.Gly963Arg)
c.2468G>A
c.2824G>A (p.Gly942Arg)
c.2947G>A (p.Gly983Arg)
c.2884G>A (p.Gly962Arg)
n.3023G>A
c.2566G>A (p.Gly856Arg)
n.2957G>A
n.2905G>A
Xg.71392674G>CCA413525025TAF1c.2173G>C (p.Gly725Arg)
c.2887G>C (p.Gly963Arg)
c.2468G>C
c.2824G>C (p.Gly942Arg)
c.2947G>C (p.Gly983Arg)
c.2884G>C (p.Gly962Arg)
n.3023G>C
c.2566G>C (p.Gly856Arg)
n.2957G>C
n.2905G>C
Xg.71392674G>TCA413525028TAF1c.2173G>T (p.Gly725Ter)
c.2887G>T (p.Gly963Ter)
c.2468G>T
c.2824G>T (p.Gly942Ter)
c.2947G>T (p.Gly983Ter)
c.2884G>T (p.Gly962Ter)
n.3023G>T
c.2566G>T (p.Gly856Ter)
n.2957G>T
n.2905G>T
Xg.71392675G>ACA413525040TAF1c.2174G>A (p.Gly725Glu)
c.2888G>A (p.Gly963Glu)
c.2469G>A
c.2825G>A (p.Gly942Glu)
c.2948G>A (p.Gly983Glu)
c.2885G>A (p.Gly962Glu)
n.3024G>A
c.2567G>A (p.Gly856Glu)
n.2958G>A
n.2906G>A
Xg.71392675G>CCA413525033TAF1c.2174G>C (p.Gly725Ala)
c.2888G>C (p.Gly963Ala)
c.2469G>C
c.2825G>C (p.Gly942Ala)
c.2948G>C (p.Gly983Ala)
c.2885G>C (p.Gly962Ala)
n.3024G>C
c.2567G>C (p.Gly856Ala)
n.2958G>C
n.2906G>C
gnomAD v4
Xg.71392675G>TCA413525036TAF1c.2174G>T (p.Gly725Val)
c.2888G>T (p.Gly963Val)
c.2469G>T
c.2825G>T (p.Gly942Val)
c.2948G>T (p.Gly983Val)
c.2885G>T (p.Gly962Val)
n.3024G>T
c.2567G>T (p.Gly856Val)
n.2958G>T
n.2906G>T
Xg.71392676A>CCA516728011TAF1c.2175A>C (p.Gly725=)
c.2889A>C (p.Gly963=)
c.2470A>C
c.2826A>C (p.Gly942=)
c.2949A>C (p.Gly983=)
c.2886A>C (p.Gly962=)
n.3025A>C
c.2568A>C (p.Gly856=)
n.2959A>C
n.2907A>C
Xg.71392676A>GCA516728012TAF1c.2175A>G (p.Gly725=)
c.2889A>G (p.Gly963=)
c.2470A>G
c.2826A>G (p.Gly942=)
c.2949A>G (p.Gly983=)
c.2886A>G (p.Gly962=)
n.3025A>G
c.2568A>G (p.Gly856=)
n.2959A>G
n.2907A>G
Xg.71392676A>TCA516728014TAF1c.2175A>T (p.Gly725=)
c.2889A>T (p.Gly963=)
c.2470A>T
c.2826A>T (p.Gly942=)
c.2949A>T (p.Gly983=)
c.2886A>T (p.Gly962=)
n.3025A>T
c.2568A>T (p.Gly856=)
n.2959A>T
n.2907A>T
Xg.71392677T>ACA413525045TAF1c.2176T>A (p.Phe726Ile)
c.2890T>A (p.Phe964Ile)
c.2471T>A
c.2827T>A (p.Phe943Ile)
c.2950T>A (p.Phe984Ile)
c.2887T>A (p.Phe963Ile)
n.3026T>A
c.2569T>A (p.Phe857Ile)
n.2960T>A
n.2908T>A
Xg.71392677T>CCA413525048TAF1c.2176T>C (p.Phe726Leu)
c.2890T>C (p.Phe964Leu)
c.2471T>C
c.2827T>C (p.Phe943Leu)
c.2950T>C (p.Phe984Leu)
c.2887T>C (p.Phe963Leu)
n.3026T>C
c.2569T>C (p.Phe857Leu)
n.2960T>C
n.2908T>C
Xg.71392677T>GCA413525052TAF1c.2176T>G (p.Phe726Val)
c.2890T>G (p.Phe964Val)
c.2471T>G
c.2827T>G (p.Phe943Val)
c.2950T>G (p.Phe984Val)
c.2887T>G (p.Phe963Val)
n.3026T>G
c.2569T>G (p.Phe857Val)
n.2960T>G
n.2908T>G
Xg.71392678T>ACA413525056TAF1c.2177T>A (p.Phe726Tyr)
c.2891T>A (p.Phe964Tyr)
c.2472T>A
c.2828T>A (p.Phe943Tyr)
c.2951T>A (p.Phe984Tyr)
c.2888T>A (p.Phe963Tyr)
n.3027T>A
c.2570T>A (p.Phe857Tyr)
n.2961T>A
n.2909T>A
Xg.71392678T>CCA413525058TAF1c.2177T>C (p.Phe726Ser)
c.2891T>C (p.Phe964Ser)
c.2472T>C
c.2828T>C (p.Phe943Ser)
c.2951T>C (p.Phe984Ser)
c.2888T>C (p.Phe963Ser)
n.3027T>C
c.2570T>C (p.Phe857Ser)
n.2961T>C
n.2909T>C
Xg.71392678T>GCA413525061TAF1c.2177T>G (p.Phe726Cys)
c.2891T>G (p.Phe964Cys)
c.2472T>G
c.2828T>G (p.Phe943Cys)
c.2951T>G (p.Phe984Cys)
c.2888T>G (p.Phe963Cys)
n.3027T>G
c.2570T>G (p.Phe857Cys)
n.2961T>G
n.2909T>G
ClinVar
Xg.71392679C>ACA413525066TAF1c.2178C>A (p.Phe726Leu)
c.2892C>A (p.Phe964Leu)
c.2473C>A
c.2829C>A (p.Phe943Leu)
c.2952C>A (p.Phe984Leu)
c.2889C>A (p.Phe963Leu)
n.3028C>A
c.2571C>A (p.Phe857Leu)
n.2962C>A
n.2910C>A
Xg.71392679C>GCA413525073TAF1c.2178C>G (p.Phe726Leu)
c.2892C>G (p.Phe964Leu)
c.2473C>G
c.2829C>G (p.Phe943Leu)
c.2952C>G (p.Phe984Leu)
c.2889C>G (p.Phe963Leu)
n.3028C>G
c.2571C>G (p.Phe857Leu)
n.2962C>G
n.2910C>G
Xg.71392679C>TCA516728020TAF1c.2178C>T (p.Phe726=)
c.2892C>T (p.Phe964=)
c.2473C>T
c.2829C>T (p.Phe943=)
c.2952C>T (p.Phe984=)
c.2889C>T (p.Phe963=)
n.3028C>T
c.2571C>T (p.Phe857=)
n.2962C>T
n.2910C>T
gnomAD v4
Xg.71392680T>ACA413525080TAF1c.2179T>A (p.Ser727Thr)
c.2893T>A (p.Ser965Thr)
c.2474T>A
c.2830T>A (p.Ser944Thr)
c.2953T>A (p.Ser985Thr)
c.2890T>A (p.Ser964Thr)
n.3029T>A
c.2572T>A (p.Ser858Thr)
n.2963T>A
n.2911T>A
Xg.71392680T>CCA413525083TAF1c.2179T>C (p.Ser727Pro)
c.2893T>C (p.Ser965Pro)
c.2474T>C
c.2830T>C (p.Ser944Pro)
c.2953T>C (p.Ser985Pro)
c.2890T>C (p.Ser964Pro)
n.3029T>C
c.2572T>C (p.Ser858Pro)
n.2963T>C
n.2911T>C
Xg.71392680T>GCA413525085TAF1c.2179T>G (p.Ser727Ala)
c.2893T>G (p.Ser965Ala)
c.2474T>G
c.2830T>G (p.Ser944Ala)
c.2953T>G (p.Ser985Ala)
c.2890T>G (p.Ser964Ala)
n.3029T>G
c.2572T>G (p.Ser858Ala)
n.2963T>G
n.2911T>G
Xg.71392681C>ACA413525094TAF1c.2180C>A (p.Ser727Tyr)
c.2894C>A (p.Ser965Tyr)
c.2475C>A
c.2831C>A (p.Ser944Tyr)
c.2954C>A (p.Ser985Tyr)
c.2891C>A (p.Ser964Tyr)
n.3030C>A
c.2573C>A (p.Ser858Tyr)
n.2964C>A
n.2912C>A
Xg.71392681C=CA2436448106TAF1c.2180C= (p.Ser727=)
c.2894C= (p.Ser965=)
c.2475C=
c.2831C= (p.Ser944=)
c.2954C= (p.Ser985=)
c.2891C= (p.Ser964=)
n.3030C=
c.2573C= (p.Ser858=)
n.2964C=
n.2912C=
Xg.71392681C>GCA413525091TAF1c.2180C>G (p.Ser727Cys)
c.2894C>G (p.Ser965Cys)
c.2475C>G
c.2831C>G (p.Ser944Cys)
c.2954C>G (p.Ser985Cys)
c.2891C>G (p.Ser964Cys)
n.3030C>G
c.2573C>G (p.Ser858Cys)
n.2964C>G
n.2912C>G
gnomAD v4
Xg.71392681C>TCA16043305TAF1c.2180C>T (p.Ser727Phe)
c.2894C>T (p.Ser965Phe)
c.2475C>T
c.2831C>T (p.Ser944Phe)
c.2954C>T (p.Ser985Phe)
c.2891C>T (p.Ser964Phe)
n.3030C>T
c.2573C>T (p.Ser858Phe)
n.2964C>T
n.2912C>T
ClinVar dbSNP
Xg.71392682C>ACA516728028TAF1c.2181C>A (p.Ser727=)
c.2895C>A (p.Ser965=)
c.2476C>A
c.2832C>A (p.Ser944=)
c.2955C>A (p.Ser985=)
c.2892C>A (p.Ser964=)
n.3031C>A
c.2574C>A (p.Ser858=)
n.2965C>A
n.2913C>A
Xg.71392682C=CA2436448107TAF1c.2181C= (p.Ser727=)
c.2895C= (p.Ser965=)
c.2476C=
c.2832C= (p.Ser944=)
c.2955C= (p.Ser985=)
c.2892C= (p.Ser964=)
n.3031C=
c.2574C= (p.Ser858=)
n.2965C=
n.2913C=
Xg.71392682C>GCA516728029TAF1c.2181C>G (p.Ser727=)
c.2895C>G (p.Ser965=)
c.2476C>G
c.2832C>G (p.Ser944=)
c.2955C>G (p.Ser985=)
c.2892C>G (p.Ser964=)
n.3031C>G
c.2574C>G (p.Ser858=)
n.2965C>G
n.2913C>G
gnomAD v4
Xg.71392682C>TCA516728027TAF1c.2181C>T (p.Ser727=)
c.2895C>T (p.Ser965=)
c.2476C>T
c.2832C>T (p.Ser944=)
c.2955C>T (p.Ser985=)
c.2892C>T (p.Ser964=)
n.3031C>T
c.2574C>T (p.Ser858=)
n.2965C>T
n.2913C>T
ClinVar dbSNP gnomAD v4

Number of alleles fetched