Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.125032251G>A | CA372181001 | WASHC5 | c.3325C>T (p.Gln1109Ter) c.2881C>T (p.Gln961Ter) n.464C>T | dbSNP |
8 | g.125032251G>C | CA372181005 | WASHC5 | c.3325C>G (p.Gln1109Glu) c.2881C>G (p.Gln961Glu) n.464C>G | |
8 | g.125032251G= | CA1817254834 | WASHC5 | c.3325C= (p.Gln1109=) c.2881C= (p.Gln961=) n.464C= | |
8 | g.125032251G>T | CA372181008 | WASHC5 | c.3325C>A (p.Gln1109Lys) c.2881C>A (p.Gln961Lys) n.464C>A | |
8 | g.125032252C>A | CA372181020 | WASHC5 | c.3324G>T (p.Glu1108Asp) c.2880G>T (p.Glu960Asp) n.463G>T | |
8 | g.125032252C>G | CA372181012 | WASHC5 | c.3324G>C (p.Glu1108Asp) c.2880G>C (p.Glu960Asp) n.463G>C | |
8 | g.125032252C>T | CA462766805 | WASHC5 | c.3324G>A (p.Glu1108=) c.2880G>A (p.Glu960=) n.463G>A | gnomAD v4 |
8 | g.125032253T>A | CA372181039 | WASHC5 | c.3323A>T (p.Glu1108Val) c.2879A>T (p.Glu960Val) n.462A>T | |
8 | g.125032253T>C | CA372181042 | WASHC5 | c.3323A>G (p.Glu1108Gly) c.2879A>G (p.Glu960Gly) n.462A>G | |
8 | g.125032253T>G | CA372181044 | WASHC5 | c.3323A>C (p.Glu1108Ala) c.2879A>C (p.Glu960Ala) n.462A>C | |
8 | g.125032254C>A | CA372181049 | WASHC5 | c.3322G>T (p.Glu1108Ter) c.2878G>T (p.Glu960Ter) n.461G>T | |
8 | g.125032254C= | CA1817254835 | WASHC5 | c.3322G= (p.Glu1108=) c.2878G= (p.Glu960=) n.461G= | |
8 | g.125032254C>G | CA372181053 | WASHC5 | c.3322G>C (p.Glu1108Gln) c.2878G>C (p.Glu960Gln) n.461G>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125032254C>T | CA372181055 | WASHC5 | c.3322G>A (p.Glu1108Lys) c.2878G>A (p.Glu960Lys) n.461G>A | |
8 | g.125032255C>A | CA462766815 | WASHC5 | c.3321G>T (p.Val1107=) c.2877G>T (p.Val959=) n.460G>T | |
8 | g.125032255C= | CA1817254836 | WASHC5 | c.3321G= (p.Val1107=) c.2877G= (p.Val959=) n.460G= | |
8 | g.125032255C>G | CA462766817 | WASHC5 | c.3321G>C (p.Val1107=) c.2877G>C (p.Val959=) n.460G>C | |
8 | g.125032255C>T | CA462766818 | WASHC5 | c.3321G>A (p.Val1107=) c.2877G>A (p.Val959=) n.460G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125032256A>C | CA372181064 | WASHC5 | c.3320T>G (p.Val1107Gly) c.2876T>G (p.Val959Gly) n.459T>G | |
8 | g.125032256A>G | CA372181068 | WASHC5 | c.3320T>C (p.Val1107Ala) c.2876T>C (p.Val959Ala) n.459T>C | |
8 | g.125032256A>T | CA372181073 | WASHC5 | c.3320T>A (p.Val1107Glu) c.2876T>A (p.Val959Glu) n.459T>A | |
8 | g.125032257C>A | CA4873255 | WASHC5 | c.3319G>T (p.Val1107Leu) c.2875G>T (p.Val959Leu) n.458G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032257C= | CA1817254837 | WASHC5 | c.3319G= (p.Val1107=) c.2875G= (p.Val959=) n.458G= | |
8 | g.125032257C>G | CA372181077 | WASHC5 | c.3319G>C (p.Val1107Leu) c.2875G>C (p.Val959Leu) n.458G>C | |
8 | g.125032257C>T | CA202092 | WASHC5 | c.3319G>A (p.Val1107Met) c.2875G>A (p.Val959Met) n.458G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.125032258C>A | CA462766827 | WASHC5 | c.3318G>T (p.Thr1106=) c.2874G>T (p.Thr958=) n.457G>T | |
8 | g.125032258C= | CA1817254838 | WASHC5 | c.3318G= (p.Thr1106=) c.2874G= (p.Thr958=) n.457G= | |
8 | g.125032258C>G | CA462766829 | WASHC5 | c.3318G>C (p.Thr1106=) c.2874G>C (p.Thr958=) n.457G>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125032258C>T | CA4873256 | WASHC5 | c.3318G>A (p.Thr1106=) c.2874G>A (p.Thr958=) n.457G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032259G>A | CA4873257 | WASHC5 | c.3317C>T (p.Thr1106Met) c.2873C>T (p.Thr958Met) n.456C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032259G>C | CA372181094 | WASHC5 | c.3317C>G (p.Thr1106Arg) c.2873C>G (p.Thr958Arg) n.456C>G | |
8 | g.125032259G= | CA1817254839 | WASHC5 | c.3317C= (p.Thr1106=) c.2873C= (p.Thr958=) n.456C= | |
8 | g.125032259G>T | CA372181089 | WASHC5 | c.3317C>A (p.Thr1106Lys) c.2873C>A (p.Thr958Lys) n.456C>A | |
8 | g.125032260T>A | CA372181095 | WASHC5 | c.3316A>T (p.Thr1106Ser) c.2872A>T (p.Thr958Ser) n.455A>T | |
8 | g.125032260T>C | CA372181096 | WASHC5 | c.3316A>G (p.Thr1106Ala) c.2872A>G (p.Thr958Ala) n.455A>G | |
8 | g.125032260T>G | CA372181098 | WASHC5 | c.3316A>C (p.Thr1106Pro) c.2872A>C (p.Thr958Pro) n.455A>C | |
8 | g.125032261G>A | CA462766840 | WASHC5 | c.3315C>T (p.Ser1105=) c.2871C>T (p.Ser957=) n.454C>T | |
8 | g.125032261G>C | CA462766842 | WASHC5 | c.3315C>G (p.Ser1105=) c.2871C>G (p.Ser957=) n.454C>G | |
8 | g.125032261G>T | CA462766843 | WASHC5 | c.3315C>A (p.Ser1105=) c.2871C>A (p.Ser957=) n.454C>A | |
8 | g.125032262G>A | CA4873258 | WASHC5 | c.3314C>T (p.Ser1105Phe) c.2870C>T (p.Ser957Phe) n.453C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125032262G>C | CA372181106 | WASHC5 | c.3314C>G (p.Ser1105Cys) c.2870C>G (p.Ser957Cys) n.453C>G | |
8 | g.125032262G= | CA1817254840 | WASHC5 | c.3314C= (p.Ser1105=) c.2870C= (p.Ser957=) n.453C= | |
8 | g.125032262G>T | CA372181111 | WASHC5 | c.3314C>A (p.Ser1105Tyr) c.2870C>A (p.Ser957Tyr) n.453C>A | |
8 | g.125032263A>C | CA372181116 | WASHC5 | c.3313T>G (p.Ser1105Ala) c.2869T>G (p.Ser957Ala) n.452T>G | |
8 | g.125032263A>G | CA372181131 | WASHC5 | c.3313T>C (p.Ser1105Pro) c.2869T>C (p.Ser957Pro) n.452T>C | |
8 | g.125032263A>T | CA372181135 | WASHC5 | c.3313T>A (p.Ser1105Thr) c.2869T>A (p.Ser957Thr) n.452T>A | |
8 | g.125032264G>A | CA462766849 | WASHC5 | c.3312C>T (p.Cys1104=) c.2868C>T (p.Cys956=) n.451C>T | |
8 | g.125032264G>C | CA372181141 | WASHC5 | c.3312C>G (p.Cys1104Trp) c.2868C>G (p.Cys956Trp) n.451C>G | |
8 | g.125032264G>T | CA372181142 | WASHC5 | c.3312C>A (p.Cys1104Ter) c.2868C>A (p.Cys956Ter) n.451C>A | gnomAD v4 |
8 | g.125032265C>A | CA372181158 | WASHC5 | c.3311G>T (p.Cys1104Phe) c.2867G>T (p.Cys956Phe) n.450G>T | |
8 | g.125032265C>G | CA372181155 | WASHC5 | c.3311G>C (p.Cys1104Ser) c.2867G>C (p.Cys956Ser) n.450G>C | gnomAD v4 |
8 | g.125032265C>T | CA372181144 | WASHC5 | c.3311G>A (p.Cys1104Tyr) c.2867G>A (p.Cys956Tyr) n.450G>A | |
8 | g.125032266A>C | CA372181160 | WASHC5 | c.3310T>G (p.Cys1104Gly) c.2866T>G (p.Cys956Gly) n.449T>G | |
8 | g.125032266A>G | CA372181162 | WASHC5 | c.3310T>C (p.Cys1104Arg) c.2866T>C (p.Cys956Arg) n.449T>C | |
8 | g.125032266A>T | CA372181168 | WASHC5 | c.3310T>A (p.Cys1104Ser) c.2866T>A (p.Cys956Ser) n.449T>A | |
8 | g.125032267G>A | CA462766858 | WASHC5 | c.3309C>T (p.Ile1103=) c.2865C>T (p.Ile955=) n.448C>T | gnomAD v4 |
8 | g.125032267G>C | CA372181175 | WASHC5 | c.3309C>G (p.Ile1103Met) c.2865C>G (p.Ile955Met) n.448C>G | |
8 | g.125032267G>T | CA462766862 | WASHC5 | c.3309C>A (p.Ile1103=) c.2865C>A (p.Ile955=) n.448C>A | |
8 | g.125032268A>C | CA372181179 | WASHC5 | c.3308T>G (p.Ile1103Ser) c.2864T>G (p.Ile955Ser) n.447T>G | |
8 | g.125032268A>G | CA372181184 | WASHC5 | c.3308T>C (p.Ile1103Thr) c.2864T>C (p.Ile955Thr) n.447T>C | |
8 | g.125032268A>T | CA372181188 | WASHC5 | c.3308T>A (p.Ile1103Asn) c.2864T>A (p.Ile955Asn) n.447T>A | |
8 | g.125032269T>A | CA372181194 | WASHC5 | c.3307A>T (p.Ile1103Phe) c.2863A>T (p.Ile955Phe) n.446A>T | |
8 | g.125032269T>C | CA4873259 | WASHC5 | c.3307A>G (p.Ile1103Val) c.2863A>G (p.Ile955Val) n.446A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032269T>G | CA372181207 | WASHC5 | c.3307A>C (p.Ile1103Leu) c.2863A>C (p.Ile955Leu) n.446A>C | |
8 | g.125032269T= | CA1817254841 | WASHC5 | c.3307A= (p.Ile1103=) c.2863A= (p.Ile955=) n.446A= | |
8 | g.125032270A>C | CA372181208 | WASHC5 | c.3306T>G (p.Phe1102Leu) c.2862T>G (p.Phe954Leu) n.445T>G | |
8 | g.125032270A>G | CA462766871 | WASHC5 | c.3306T>C (p.Phe1102=) c.2862T>C (p.Phe954=) n.445T>C | |
8 | g.125032270A>T | CA372181209 | WASHC5 | c.3306T>A (p.Phe1102Leu) c.2862T>A (p.Phe954Leu) n.445T>A | |
8 | g.125032271A>C | CA372181230 | WASHC5 | c.3305T>G (p.Phe1102Cys) c.2861T>G (p.Phe954Cys) n.444T>G | |
8 | g.125032271A>G | CA372181219 | WASHC5 | c.3305T>C (p.Phe1102Ser) c.2861T>C (p.Phe954Ser) n.444T>C | |
8 | g.125032271A>T | CA372181213 | WASHC5 | c.3305T>A (p.Phe1102Tyr) c.2861T>A (p.Phe954Tyr) n.444T>A | gnomAD v4 |
8 | g.125032272A>C | CA372181238 | WASHC5 | c.3304T>G (p.Phe1102Val) c.2860T>G (p.Phe954Val) n.443T>G | |
8 | g.125032272A>G | CA372181236 | WASHC5 | c.3304T>C (p.Phe1102Leu) c.2860T>C (p.Phe954Leu) n.443T>C | |
8 | g.125032272A>T | CA372181237 | WASHC5 | c.3304T>A (p.Phe1102Ile) c.2860T>A (p.Phe954Ile) n.443T>A | |
8 | g.125032273C>A | CA372181241 | WASHC5 | c.3303G>T (p.Gln1101His) c.2859G>T (p.Gln953His) n.442G>T | |
8 | g.125032273C>G | CA372181243 | WASHC5 | c.3303G>C (p.Gln1101His) c.2859G>C (p.Gln953His) n.442G>C | |
8 | g.125032273C>T | CA462766881 | WASHC5 | c.3303G>A (p.Gln1101=) c.2859G>A (p.Gln953=) n.442G>A | |
8 | g.125032274T>A | CA372181249 | WASHC5 | c.3302A>T (p.Gln1101Leu) c.2858A>T (p.Gln953Leu) n.441A>T | |
8 | g.125032274T>C | CA372181255 | WASHC5 | c.3302A>G (p.Gln1101Arg) c.2858A>G (p.Gln953Arg) n.441A>G | |
8 | g.125032274T>G | CA372181257 | WASHC5 | c.3302A>C (p.Gln1101Pro) c.2858A>C (p.Gln953Pro) n.441A>C | |
8 | g.125032275G>A | CA372181258 | WASHC5 | c.3301C>T (p.Gln1101Ter) c.2857C>T (p.Gln953Ter) n.440C>T | |
8 | g.125032275G>C | CA372181263 | WASHC5 | c.3301C>G (p.Gln1101Glu) c.2857C>G (p.Gln953Glu) n.440C>G | |
8 | g.125032275G>T | CA372181261 | WASHC5 | c.3301C>A (p.Gln1101Lys) c.2857C>A (p.Gln953Lys) n.440C>A | |
8 | g.125032276G>A | CA4873260 | WASHC5 | c.3300C>T (p.Gly1100=) c.2856C>T (p.Gly952=) n.439C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125032276G>C | CA462766890 | WASHC5 | c.3300C>G (p.Gly1100=) c.2856C>G (p.Gly952=) n.439C>G | |
8 | g.125032276G= | CA1817254842 | WASHC5 | c.3300C= (p.Gly1100=) c.2856C= (p.Gly952=) n.439C= | |
8 | g.125032276G>T | CA462766892 | WASHC5 | c.3300C>A (p.Gly1100=) c.2856C>A (p.Gly952=) n.439C>A | |
8 | g.125032277C>A | CA372181275 | WASHC5 | c.3299G>T (p.Gly1100Val) c.2855G>T (p.Gly952Val) n.438G>T | gnomAD v4 |
8 | g.125032277C>G | CA372181278 | WASHC5 | c.3299G>C (p.Gly1100Ala) c.2855G>C (p.Gly952Ala) n.438G>C | |
8 | g.125032277C>T | CA372181282 | WASHC5 | c.3299G>A (p.Gly1100Asp) c.2855G>A (p.Gly952Asp) n.438G>A | |
8 | g.125032278C>A | CA372181288 | WASHC5 | c.3298G>T (p.Gly1100Cys) c.2854G>T (p.Gly952Cys) n.437G>T | |
8 | g.125032278C>G | CA372181283 | WASHC5 | c.3298G>C (p.Gly1100Arg) c.2854G>C (p.Gly952Arg) n.437G>C | |
8 | g.125032278C>T | CA372181285 | WASHC5 | c.3298G>A (p.Gly1100Ser) c.2854G>A (p.Gly952Ser) n.437G>A | COSMIC |
8 | g.125032279A>C | CA372181295 | WASHC5 | c.3297T>G (p.Ile1099Met) c.2853T>G (p.Ile951Met) n.436T>G | |
8 | g.125032279A>G | CA462766899 | WASHC5 | c.3297T>C (p.Ile1099=) c.2853T>C (p.Ile951=) n.436T>C | |
8 | g.125032279A>T | CA462766902 | WASHC5 | c.3297T>A (p.Ile1099=) c.2853T>A (p.Ile951=) n.436T>A | |
8 | g.125032280A= | CA1817254843 | WASHC5 | c.3296T= (p.Ile1099=) c.2852T= (p.Ile951=) n.435T= | |
8 | g.125032280A>C | CA372181303 | WASHC5 | c.3296T>G (p.Ile1099Ser) c.2852T>G (p.Ile951Ser) n.435T>G | |
8 | g.125032280A>G | CA242783 | WASHC5 | c.3296T>C (p.Ile1099Thr) c.2852T>C (p.Ile951Thr) n.435T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032280A>T | CA372181316 | WASHC5 | c.3296T>A (p.Ile1099Asn) c.2852T>A (p.Ile951Asn) n.435T>A | |
8 | g.125032281T>A | CA372181319 | WASHC5 | c.3295A>T (p.Ile1099Phe) c.2851A>T (p.Ile951Phe) n.434A>T | |
8 | g.125032281T>C | CA372181320 | WASHC5 | c.3295A>G (p.Ile1099Val) c.2851A>G (p.Ile951Val) n.434A>G | |
8 | g.125032281T>G | CA372181321 | WASHC5 | c.3295A>C (p.Ile1099Leu) c.2851A>C (p.Ile951Leu) n.434A>C | |
8 | g.125032282C>A | CA462766912 | WASHC5 | c.3294G>T (p.Leu1098=) c.2850G>T (p.Leu950=) n.433G>T | |
8 | g.125032282C>G | CA462766913 | WASHC5 | c.3294G>C (p.Leu1098=) c.2850G>C (p.Leu950=) n.433G>C | |
8 | g.125032282C>T | CA462766915 | WASHC5 | c.3294G>A (p.Leu1098=) c.2850G>A (p.Leu950=) n.433G>A | COSMIC |
8 | g.125032283A>C | CA372181323 | WASHC5 | c.3293T>G (p.Leu1098Arg) c.2849T>G (p.Leu950Arg) n.432T>G | |
8 | g.125032283A>G | CA372181326 | WASHC5 | c.3293T>C (p.Leu1098Pro) c.2849T>C (p.Leu950Pro) n.432T>C | |
8 | g.125032283A>T | CA372181328 | WASHC5 | c.3293T>A (p.Leu1098Gln) c.2849T>A (p.Leu950Gln) n.432T>A | |
8 | g.125032284G>A | CA462766922 | WASHC5 | c.3292C>T (p.Leu1098=) c.2848C>T (p.Leu950=) n.431C>T | |
8 | g.125032284G>C | CA372181332 | WASHC5 | c.3292C>G (p.Leu1098Val) c.2848C>G (p.Leu950Val) n.431C>G | |
8 | g.125032284G>T | CA372181335 | WASHC5 | c.3292C>A (p.Leu1098Met) c.2848C>A (p.Leu950Met) n.431C>A | |
8 | g.125032285C>A | CA462766923 | WASHC5 | c.3291G>T (p.Ala1097=) c.2847G>T (p.Ala949=) n.430G>T | |
8 | g.125032285C= | CA1817254844 | WASHC5 | c.3291G= (p.Ala1097=) c.2847G= (p.Ala949=) n.430G= | |
8 | g.125032285C>G | CA462766925 | WASHC5 | c.3291G>C (p.Ala1097=) c.2847G>C (p.Ala949=) n.430G>C | |
8 | g.125032285C>T | CA153332 | WASHC5 | c.3291G>A (p.Ala1097=) c.2847G>A (p.Ala949=) n.430G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032286G>A | CA372181340 | WASHC5 | c.3290C>T (p.Ala1097Val) c.2846C>T (p.Ala949Val) n.429C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032286G>C | CA372181372 | WASHC5 | c.3290C>G (p.Ala1097Gly) c.2846C>G (p.Ala949Gly) n.429C>G | |
8 | g.125032286G= | CA1817254845 | WASHC5 | c.3290C= (p.Ala1097=) c.2846C= (p.Ala949=) n.429C= | |
8 | g.125032286G>T | CA372181355 | WASHC5 | c.3290C>A (p.Ala1097Glu) c.2846C>A (p.Ala949Glu) n.429C>A | |
8 | g.125032287C>A | CA372181380 | WASHC5 | c.3289G>T (p.Ala1097Ser) c.2845G>T (p.Ala949Ser) n.428G>T | |
8 | g.125032287C>G | CA372181383 | WASHC5 | c.3289G>C (p.Ala1097Pro) c.2845G>C (p.Ala949Pro) n.428G>C | |
8 | g.125032287C>T | CA372181386 | WASHC5 | c.3289G>A (p.Ala1097Thr) c.2845G>A (p.Ala949Thr) n.428G>A | |
8 | g.125032288C>A | CA462766934 | WASHC5 | c.3288G>T (p.Leu1096=) c.2844G>T (p.Leu948=) n.427G>T | |
8 | g.125032288C= | CA1817254846 | WASHC5 | c.3288G= (p.Leu1096=) c.2844G= (p.Leu948=) n.427G= | |
8 | g.125032288C>G | CA462766935 | WASHC5 | c.3288G>C (p.Leu1096=) c.2844G>C (p.Leu948=) n.427G>C | |
8 | g.125032288C>T | CA462766937 | WASHC5 | c.3288G>A (p.Leu1096=) c.2844G>A (p.Leu948=) n.427G>A | |
8 | g.125032288_125032289insCTAAT | CA1817254847 | WASHC5 | c.3287_3288insATTAG (p.Ala1097LeufsTer4) c.2843_2844insATTAG (p.Ala949LeufsTer4) n.426_427insATTAG | dbSNP |
8 | g.125032289A>C | CA372181389 | WASHC5 | c.3287T>G (p.Leu1096Arg) c.2843T>G (p.Leu948Arg) n.426T>G | |
8 | g.125032289A>G | CA372181393 | WASHC5 | c.3287T>C (p.Leu1096Pro) c.2843T>C (p.Leu948Pro) n.426T>C | |
8 | g.125032289A>T | CA372181396 | WASHC5 | c.3287T>A (p.Leu1096Gln) c.2843T>A (p.Leu948Gln) n.426T>A | |
8 | g.125032290G>A | CA462766942 | WASHC5 | c.3286C>T (p.Leu1096=) c.2842C>T (p.Leu948=) n.425C>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125032290G>C | CA372181399 | WASHC5 | c.3286C>G (p.Leu1096Val) c.2842C>G (p.Leu948Val) n.425C>G | gnomAD v4 |
8 | g.125032290G= | CA1817254848 | WASHC5 | c.3286C= (p.Leu1096=) c.2842C= (p.Leu948=) n.425C= | |
8 | g.125032290G>T | CA372181401 | WASHC5 | c.3286C>A (p.Leu1096Met) c.2842C>A (p.Leu948Met) n.425C>A | |
8 | g.125032290_125032291insAGAT | CA1817254849 | WASHC5 | c.3285_3286insATCT (p.Leu1096IlefsTer23) c.2841_2842insATCT (p.Leu948IlefsTer23) n.424_425insATCT | dbSNP |
8 | g.125032291G>A | CA462766944 | WASHC5 | c.3285C>T (p.Phe1095=) c.2841C>T (p.Phe947=) n.424C>T | gnomAD v4 |
8 | g.125032291G>C | CA372181403 | WASHC5 | c.3285C>G (p.Phe1095Leu) c.2841C>G (p.Phe947Leu) n.424C>G | gnomAD v4 |
8 | g.125032291G>T | CA372181417 | WASHC5 | c.3285C>A (p.Phe1095Leu) c.2841C>A (p.Phe947Leu) n.424C>A | |
8 | g.125032292A>C | CA372181419 | WASHC5 | c.3284T>G (p.Phe1095Cys) c.2840T>G (p.Phe947Cys) n.423T>G | |
8 | g.125032292A>G | CA372181420 | WASHC5 | c.3284T>C (p.Phe1095Ser) c.2840T>C (p.Phe947Ser) n.423T>C | |
8 | g.125032292A>T | CA372181421 | WASHC5 | c.3284T>A (p.Phe1095Tyr) c.2840T>A (p.Phe947Tyr) n.423T>A | |
8 | g.125032293A>C | CA372181425 | WASHC5 | c.3283T>G (p.Phe1095Val) c.2839T>G (p.Phe947Val) n.422T>G | |
8 | g.125032293A>G | CA372181427 | WASHC5 | c.3283T>C (p.Phe1095Leu) c.2839T>C (p.Phe947Leu) n.422T>C | |
8 | g.125032293A>T | CA372181426 | WASHC5 | c.3283T>A (p.Phe1095Ile) c.2839T>A (p.Phe947Ile) n.422T>A | |
8 | g.125032294C>A | CA372181429 | WASHC5 | c.3282G>T (p.Gln1094His) c.2838G>T (p.Gln946His) n.421G>T | |
8 | g.125032294C= | CA1817254850 | WASHC5 | c.3282G= (p.Gln1094=) c.2838G= (p.Gln946=) n.421G= | |
8 | g.125032294C>G | CA372181430 | WASHC5 | c.3282G>C (p.Gln1094His) c.2838G>C (p.Gln946His) n.421G>C | dbSNP gnomAD v4 |
8 | g.125032294C>T | CA4873261 | WASHC5 | c.3282G>A (p.Gln1094=) c.2838G>A (p.Gln946=) n.421G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032295T>A | CA372181439 | WASHC5 | c.3281A>T (p.Gln1094Leu) c.2837A>T (p.Gln946Leu) n.420A>T | |
8 | g.125032295T>C | CA372181440 | WASHC5 | c.3281A>G (p.Gln1094Arg) c.2837A>G (p.Gln946Arg) n.420A>G | |
8 | g.125032295T>G | CA372181444 | WASHC5 | c.3281A>C (p.Gln1094Pro) c.2837A>C (p.Gln946Pro) n.420A>C | |
8 | g.125032296G>A | CA372181448 | WASHC5 | c.3280C>T (p.Gln1094Ter) c.2836C>T (p.Gln946Ter) n.419C>T | |
8 | g.125032296G>C | CA372181450 | WASHC5 | c.3280C>G (p.Gln1094Glu) c.2836C>G (p.Gln946Glu) n.419C>G | |
8 | g.125032296G>T | CA372181451 | WASHC5 | c.3280C>A (p.Gln1094Lys) c.2836C>A (p.Gln946Lys) n.419C>A | |
8 | g.125032297C>A | CA372181453 | WASHC5 | c.3279G>T (p.Glu1093Asp) c.2835G>T (p.Glu945Asp) n.418G>T | |
8 | g.125032297C>G | CA372181455 | WASHC5 | c.3279G>C (p.Glu1093Asp) c.2835G>C (p.Glu945Asp) n.418G>C | |
8 | g.125032297C>T | CA462766961 | WASHC5 | c.3279G>A (p.Glu1093=) c.2835G>A (p.Glu945=) n.418G>A | |
8 | g.125032298T>A | CA372181465 | WASHC5 | c.3278A>T (p.Glu1093Val) c.2834A>T (p.Glu945Val) n.417A>T | |
8 | g.125032298T>C | CA372181467 | WASHC5 | c.3278A>G (p.Glu1093Gly) c.2834A>G (p.Glu945Gly) n.417A>G | |
8 | g.125032298T>G | CA372181460 | WASHC5 | c.3278A>C (p.Glu1093Ala) c.2834A>C (p.Glu945Ala) n.417A>C | |
8 | g.125032299C>A | CA372181470 | WASHC5 | c.3277G>T (p.Glu1093Ter) c.2833G>T (p.Glu945Ter) n.416G>T | |
8 | g.125032299C= | CA1817254851 | WASHC5 | c.3277G= (p.Glu1093=) c.2833G= (p.Glu945=) n.416G= | |
8 | g.125032299C>G | CA372181473 | WASHC5 | c.3277G>C (p.Glu1093Gln) c.2833G>C (p.Glu945Gln) n.416G>C | gnomAD v4 |
8 | g.125032299C>T | CA4873262 | WASHC5 | c.3277G>A (p.Glu1093Lys) c.2833G>A (p.Glu945Lys) n.416G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032300G>A | CA4873263 | WASHC5 | c.3276C>T (p.Thr1092=) c.2832C>T (p.Thr944=) n.415C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032300G>C | CA462766972 | WASHC5 | c.3276C>G (p.Thr1092=) c.2832C>G (p.Thr944=) n.415C>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125032300G= | CA1817254852 | WASHC5 | c.3276C= (p.Thr1092=) c.2832C= (p.Thr944=) n.415C= | |
8 | g.125032300G>T | CA462766970 | WASHC5 | c.3276C>A (p.Thr1092=) c.2832C>A (p.Thr944=) n.415C>A | gnomAD v4 |
8 | g.125032301G>A | CA372181479 | WASHC5 | c.3275C>T (p.Thr1092Ile) c.2831C>T (p.Thr944Ile) n.414C>T | gnomAD v4 |
8 | g.125032301G>C | CA372181477 | WASHC5 | c.3275C>G (p.Thr1092Ser) c.2831C>G (p.Thr944Ser) n.414C>G | |
8 | g.125032301G>T | CA372181482 | WASHC5 | c.3275C>A (p.Thr1092Asn) c.2831C>A (p.Thr944Asn) n.414C>A | |
8 | g.125032302T>A | CA372181484 | WASHC5 | c.3274A>T (p.Thr1092Ser) c.2830A>T (p.Thr944Ser) n.413A>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125032302T>C | CA372181485 | WASHC5 | c.3274A>G (p.Thr1092Ala) c.2830A>G (p.Thr944Ala) n.413A>G | |
8 | g.125032302T>G | CA372181487 | WASHC5 | c.3274A>C (p.Thr1092Pro) c.2830A>C (p.Thr944Pro) n.413A>C | gnomAD v4 |
8 | g.125032302T= | CA1817254853 | WASHC5 | c.3274A= (p.Thr1092=) c.2830A= (p.Thr944=) n.413A= | |
8 | g.125032303G>A | CA462766983 | WASHC5 | c.3273C>T (p.Tyr1091=) c.2829C>T (p.Tyr943=) n.412C>T | |
8 | g.125032303G>C | CA372181491 | WASHC5 | c.3273C>G (p.Tyr1091Ter) c.2829C>G (p.Tyr943Ter) n.412C>G | |
8 | g.125032303G>T | CA372181496 | WASHC5 | c.3273C>A (p.Tyr1091Ter) c.2829C>A (p.Tyr943Ter) n.412C>A | |
8 | g.125032304T>A | CA372181500 | WASHC5 | c.3272A>T (p.Tyr1091Phe) c.2828A>T (p.Tyr943Phe) n.411A>T | |
8 | g.125032304T>C | CA372181501 | WASHC5 | c.3272A>G (p.Tyr1091Cys) c.2828A>G (p.Tyr943Cys) n.411A>G | |
8 | g.125032304T>G | CA372181502 | WASHC5 | c.3272A>C (p.Tyr1091Ser) c.2828A>C (p.Tyr943Ser) n.411A>C | |
8 | g.125032305A>C | CA372181506 | WASHC5 | c.3271T>G (p.Tyr1091Asp) c.2827T>G (p.Tyr943Asp) n.410T>G | |
8 | g.125032305A>G | CA372181514 | WASHC5 | c.3271T>C (p.Tyr1091His) c.2827T>C (p.Tyr943His) n.410T>C | |
8 | g.125032305A>T | CA372181520 | WASHC5 | c.3271T>A (p.Tyr1091Asn) c.2827T>A (p.Tyr943Asn) n.410T>A | |
8 | g.125032306C>A | CA462766991 | WASHC5 | c.3270G>T (p.Arg1090=) c.2826G>T (p.Arg942=) n.409G>T | |
8 | g.125032306C>G | CA462766995 | WASHC5 | c.3270G>C (p.Arg1090=) c.2826G>C (p.Arg942=) n.409G>C | |
8 | g.125032306C>T | CA462766993 | WASHC5 | c.3270G>A (p.Arg1090=) c.2826G>A (p.Arg942=) n.409G>A | gnomAD v4 |
8 | g.125032307del | CA2782078416 | WASHC5 | c.3270del (p.Tyr1091ThrfsTer8) c.2826del (p.Tyr943ThrfsTer8) n.409del | |
8 | g.125032307C>A | CA4873264 | WASHC5 | c.3269G>T (p.Arg1090Leu) c.2825G>T (p.Arg942Leu) n.408G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125032307C= | CA1817254854 | WASHC5 | c.3269G= (p.Arg1090=) c.2825G= (p.Arg942=) n.408G= | |
8 | g.125032307C>G | CA372181526 | WASHC5 | c.3269G>C (p.Arg1090Pro) c.2825G>C (p.Arg942Pro) n.408G>C | |
8 | g.125032307C>T | CA4873265 | WASHC5 | c.3269G>A (p.Arg1090Gln) c.2825G>A (p.Arg942Gln) n.408G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032308G>A | CA4873266 | WASHC5 | c.3268C>T (p.Arg1090Trp) c.2824C>T (p.Arg942Trp) n.407C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125032308G>C | CA4873267 | WASHC5 | c.3268C>G (p.Arg1090Gly) c.2824C>G (p.Arg942Gly) n.407C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125032308G= | CA1817254855 | WASHC5 | c.3268C= (p.Arg1090=) c.2824C= (p.Arg942=) n.407C= | |
8 | g.125032308G>T | CA462767003 | WASHC5 | c.3268C>A (p.Arg1090=) c.2824C>A (p.Arg942=) n.407C>A | |
8 | g.125032309G>A | CA4873268 | WASHC5 | c.3267C>T (p.Ser1089=) c.2823C>T (p.Ser941=) n.406C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125032309G>C | CA462767006 | WASHC5 | c.3267C>G (p.Ser1089=) c.2823C>G (p.Ser941=) n.406C>G | COSMIC |
8 | g.125032309G= | CA1817254856 | WASHC5 | c.3267C= (p.Ser1089=) c.2823C= (p.Ser941=) n.406C= | |
8 | g.125032309G>T | CA462767008 | WASHC5 | c.3267C>A (p.Ser1089=) c.2823C>A (p.Ser941=) n.406C>A | |
8 | g.125032310G>A | CA372181554 | WASHC5 | c.3266C>T (p.Ser1089Phe) c.2822C>T (p.Ser941Phe) n.405C>T | |
8 | g.125032310G>C | CA372181556 | WASHC5 | c.3266C>G (p.Ser1089Cys) c.2822C>G (p.Ser941Cys) n.405C>G | |
8 | g.125032310G= | CA1817254857 | WASHC5 | c.3266C= (p.Ser1089=) c.2822C= (p.Ser941=) n.405C= | |
8 | g.125032310G>T | CA372181557 | WASHC5 | c.3266C>A (p.Ser1089Tyr) c.2822C>A (p.Ser941Tyr) n.405C>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125032310_125032311delinsGA | CA1817254858 | WASHC5 | c.3265_3266delinsTC (p.Ser1089=) c.2821_2822delinsTC (p.Ser941=) n.404_405delinsTC | |
8 | g.125032311A>C | CA372181558 | WASHC5 | c.3265T>G (p.Ser1089Ala) c.2821T>G (p.Ser941Ala) n.404T>G | |
8 | g.125032311A>G | CA372181566 | WASHC5 | c.3265T>C (p.Ser1089Pro) c.2821T>C (p.Ser941Pro) n.404T>C | |
8 | g.125032311A>T | CA372181571 | WASHC5 | c.3265T>A (p.Ser1089Thr) c.2821T>A (p.Ser941Thr) n.404T>A | gnomAD v4 |
8 | g.125032312del | CA1817254859 | WASHC5 | c.3265del (p.Ser1089ProfsTer10) c.2821del (p.Ser941ProfsTer10) n.404del | dbSNP gnomAD v4 |
8 | g.125032312A>C | CA372181581 | WASHC5 | c.3264T>G (p.His1088Gln) c.2820T>G (p.His940Gln) n.403T>G | |
8 | g.125032312A>G | CA462767017 | WASHC5 | c.3264T>C (p.His1088=) c.2820T>C (p.His940=) n.403T>C | |
8 | g.125032312A>T | CA372181583 | WASHC5 | c.3264T>A (p.His1088Gln) c.2820T>A (p.His940Gln) n.403T>A | |
8 | g.125032313T>A | CA372181597 | WASHC5 | c.3263A>T (p.His1088Leu) c.2819A>T (p.His940Leu) n.402A>T | |
8 | g.125032313T>C | CA372181599 | WASHC5 | c.3263A>G (p.His1088Arg) c.2819A>G (p.His940Arg) n.402A>G | gnomAD v4 |
8 | g.125032313T>G | CA372181591 | WASHC5 | c.3263A>C (p.His1088Pro) c.2819A>C (p.His940Pro) n.402A>C | |
8 | g.125032314G>A | CA372181601 | WASHC5 | c.3262C>T (p.His1088Tyr) c.2818C>T (p.His940Tyr) n.401C>T | |
8 | g.125032314G>C | CA372181603 | WASHC5 | c.3262C>G (p.His1088Asp) c.2818C>G (p.His940Asp) n.401C>G | |
8 | g.125032314G>T | CA372181607 | WASHC5 | c.3262C>A (p.His1088Asn) c.2818C>A (p.His940Asn) n.401C>A | |
8 | g.125032315dup | CA2573052968 | WASHC5 | c.3262dup (p.His1088ProfsTer30) c.2818dup (p.His940ProfsTer30) n.401dup | ClinVar dbSNP gnomAD v4 |
8 | g.125032315G>A | CA462767026 | WASHC5 | c.3261C>T (p.Phe1087=) c.2817C>T (p.Phe939=) n.400C>T | dbSNP gnomAD v4 |
8 | g.125032315G>C | CA372181610 | WASHC5 | c.3261C>G (p.Phe1087Leu) c.2817C>G (p.Phe939Leu) n.400C>G | |
8 | g.125032315G= | CA1817254860 | WASHC5 | c.3261C= (p.Phe1087=) c.2817C= (p.Phe939=) n.400C= | |
8 | g.125032315G>T | CA372181613 | WASHC5 | c.3261C>A (p.Phe1087Leu) c.2817C>A (p.Phe939Leu) n.400C>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125032316A>C | CA372181619 | WASHC5 | c.3260T>G (p.Phe1087Cys) c.2816T>G (p.Phe939Cys) n.399T>G | |
8 | g.125032316A>G | CA372181622 | WASHC5 | c.3260T>C (p.Phe1087Ser) c.2816T>C (p.Phe939Ser) n.399T>C | |
8 | g.125032316A>T | CA372181625 | WASHC5 | c.3260T>A (p.Phe1087Tyr) c.2816T>A (p.Phe939Tyr) n.399T>A | |
8 | g.125032317A= | CA1817254861 | WASHC5 | c.3259T= (p.Phe1087=) c.2815T= (p.Phe939=) n.398T= | |
8 | g.125032317A>C | CA372181630 | WASHC5 | c.3259T>G (p.Phe1087Val) c.2815T>G (p.Phe939Val) n.398T>G | |
8 | g.125032317A>G | CA372181633 | WASHC5 | c.3259T>C (p.Phe1087Leu) c.2815T>C (p.Phe939Leu) n.398T>C | dbSNP gnomAD v4 |
8 | g.125032317A>T | CA372181635 | WASHC5 | c.3259T>A (p.Phe1087Ile) c.2815T>A (p.Phe939Ile) n.398T>A | |
8 | g.125032318C>A | CA372181642 | WASHC5 | c.3258G>T (p.Gln1086His) c.2814G>T (p.Gln938His) n.397G>T | |
8 | g.125032318C= | CA1817254862 | WASHC5 | c.3258G= (p.Gln1086=) c.2814G= (p.Gln938=) n.397G= | |
8 | g.125032318C>G | CA372181643 | WASHC5 | c.3258G>C (p.Gln1086His) c.2814G>C (p.Gln938His) n.397G>C | |
8 | g.125032318C>T | CA462767039 | WASHC5 | c.3258G>A (p.Gln1086=) c.2814G>A (p.Gln938=) n.397G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032319T>A | CA372181649 | WASHC5 | c.3257A>T (p.Gln1086Leu) c.2813A>T (p.Gln938Leu) n.396A>T | |
8 | g.125032319T>C | CA372181648 | WASHC5 | c.3257A>G (p.Gln1086Arg) c.2813A>G (p.Gln938Arg) n.396A>G | |
8 | g.125032319T>G | CA372181644 | WASHC5 | c.3257A>C (p.Gln1086Pro) c.2813A>C (p.Gln938Pro) n.396A>C | |
8 | g.125032320G>A | CA372181652 | WASHC5 | c.3256C>T (p.Gln1086Ter) c.2812C>T (p.Gln938Ter) n.395C>T | |
8 | g.125032320G>C | CA372181653 | WASHC5 | c.3256C>G (p.Gln1086Glu) c.2812C>G (p.Gln938Glu) n.395C>G | |
8 | g.125032320G>T | CA372181662 | WASHC5 | c.3256C>A (p.Gln1086Lys) c.2812C>A (p.Gln938Lys) n.395C>A | |
8 | g.125032321C>A | CA372181667 | WASHC5 | c.3255G>T (p.Lys1085Asn) c.2811G>T (p.Lys937Asn) n.394G>T | |
8 | g.125032321C>G | CA372181668 | WASHC5 | c.3255G>C (p.Lys1085Asn) c.2811G>C (p.Lys937Asn) n.394G>C | |
8 | g.125032321C>T | CA462767047 | WASHC5 | c.3255G>A (p.Lys1085=) c.2811G>A (p.Lys937=) n.394G>A | |
8 | g.125032322T>A | CA372181669 | WASHC5 | c.3254A>T (p.Lys1085Met) c.2810A>T (p.Lys937Met) n.393A>T | COSMIC |
8 | g.125032322T>C | CA372181674 | WASHC5 | c.3254A>G (p.Lys1085Arg) c.2810A>G (p.Lys937Arg) n.393A>G | |
8 | g.125032322T>G | CA372181682 | WASHC5 | c.3254A>C (p.Lys1085Thr) c.2810A>C (p.Lys937Thr) n.393A>C | |
8 | g.125032323T>A | CA372181688 | WASHC5 | c.3253A>T (p.Lys1085Ter) c.2809A>T (p.Lys937Ter) n.392A>T | |
8 | g.125032323T>C | CA372181707 | WASHC5 | c.3253A>G (p.Lys1085Glu) c.2809A>G (p.Lys937Glu) n.392A>G | |
8 | g.125032323T>G | CA372181720 | WASHC5 | c.3253A>C (p.Lys1085Gln) c.2809A>C (p.Lys937Gln) n.392A>C | |
8 | g.125032324C>A | CA462767057 | WASHC5 | c.3252G>T (p.Leu1084=) c.2808G>T (p.Leu936=) n.391G>T | |
8 | g.125032324C= | CA1817254863 | WASHC5 | c.3252G= (p.Leu1084=) c.2808G= (p.Leu936=) n.391G= | |
8 | g.125032324C>G | CA462767059 | WASHC5 | c.3252G>C (p.Leu1084=) c.2808G>C (p.Leu936=) n.391G>C | |
8 | g.125032324C>T | CA4873269 | WASHC5 | c.3252G>A (p.Leu1084=) c.2808G>A (p.Leu936=) n.391G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125032325A>C | CA372181746 | WASHC5 | c.3251T>G (p.Leu1084Arg) c.2807T>G (p.Leu936Arg) n.390T>G | |
8 | g.125032325A>G | CA372181745 | WASHC5 | c.3251T>C (p.Leu1084Pro) c.2807T>C (p.Leu936Pro) n.390T>C | |
8 | g.125032325A>T | CA372181744 | WASHC5 | c.3251T>A (p.Leu1084Gln) c.2807T>A (p.Leu936Gln) n.390T>A | |
8 | g.125032326G>A | CA462767065 | WASHC5 | c.3250C>T (p.Leu1084=) c.2806C>T (p.Leu936=) n.389C>T | |
8 | g.125032326G>C | CA372181749 | WASHC5 | c.3250C>G (p.Leu1084Val) c.2806C>G (p.Leu936Val) n.389C>G | |
8 | g.125032326G>T | CA372181753 | WASHC5 | c.3250C>A (p.Leu1084Met) c.2806C>A (p.Leu936Met) n.389C>A | |
8 | g.125032327C>A | CA462767070 | WASHC5 | c.3249G>T (p.Leu1083=) c.2805G>T (p.Leu935=) n.388G>T | |
8 | g.125032327C>G | CA462767072 | WASHC5 | c.3249G>C (p.Leu1083=) c.2805G>C (p.Leu935=) n.388G>C | |
8 | g.125032327C>T | CA462767073 | WASHC5 | c.3249G>A (p.Leu1083=) c.2805G>A (p.Leu935=) n.388G>A | |
8 | g.125032328A>C | CA372181760 | WASHC5 | c.3248T>G (p.Leu1083Arg) c.2804T>G (p.Leu935Arg) n.387T>G | |
8 | g.125032328A>G | CA372181764 | WASHC5 | c.3248T>C (p.Leu1083Pro) c.2804T>C (p.Leu935Pro) n.387T>C | |
8 | g.125032328A>T | CA372181769 | WASHC5 | c.3248T>A (p.Leu1083Gln) c.2804T>A (p.Leu935Gln) n.387T>A | gnomAD v4 |
8 | g.125032330_125032331del | CA2782078417 | WASHC5 | c.3247_3248del (p.Leu1083AlafsTer?) c.2803_2804del (p.Leu935AlafsTer?) n.386_387del | |
8 | g.125032329G>A | CA4873270 | WASHC5 | c.3247C>T (p.Leu1083=) c.2803C>T (p.Leu935=) n.386C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125032329G>C | CA372181775 | WASHC5 | c.3247C>G (p.Leu1083Val) c.2803C>G (p.Leu935Val) n.386C>G | |
8 | g.125032329G= | CA1817254864 | WASHC5 | c.3247C= (p.Leu1083=) c.2803C= (p.Leu935=) n.386C= | |
8 | g.125032329G>T | CA372181776 | WASHC5 | c.3247C>A (p.Leu1083Met) c.2803C>A (p.Leu935Met) n.386C>A | |
8 | g.125032330A= | CA1817254865 | WASHC5 | c.3246T= (p.Thr1082=) c.2802T= (p.Thr934=) n.385T= | |
8 | g.125032330A>C | CA462767082 | WASHC5 | c.3246T>G (p.Thr1082=) c.2802T>G (p.Thr934=) n.385T>G | |
8 | g.125032330A>G | CA462767084 | WASHC5 | c.3246T>C (p.Thr1082=) c.2802T>C (p.Thr934=) n.385T>C | |
8 | g.125032330A>T | CA462767085 | WASHC5 | c.3246T>A (p.Thr1082=) c.2802T>A (p.Thr934=) n.385T>A | dbSNP |
8 | g.125032331G>A | CA372181778 | WASHC5 | c.3245C>T (p.Thr1082Ile) c.2801C>T (p.Thr934Ile) n.384C>T | gnomAD v4 |
8 | g.125032331G>C | CA372181783 | WASHC5 | c.3245C>G (p.Thr1082Ser) c.2801C>G (p.Thr934Ser) n.384C>G | gnomAD v4 |
8 | g.125032331G>T | CA372181789 | WASHC5 | c.3245C>A (p.Thr1082Asn) c.2801C>A (p.Thr934Asn) n.384C>A | |
8 | g.125032332T>A | CA372181806 | WASHC5 | c.3244A>T (p.Thr1082Ser) c.2800A>T (p.Thr934Ser) n.383A>T | |
8 | g.125032332T>C | CA372181807 | WASHC5 | c.3244A>G (p.Thr1082Ala) c.2800A>G (p.Thr934Ala) n.383A>G | |
8 | g.125032332T>G | CA372181811 | WASHC5 | c.3244A>C (p.Thr1082Pro) c.2800A>C (p.Thr934Pro) n.383A>C | |
8 | g.125032333G>A | CA462767094 | WASHC5 | c.3243C>T (p.Leu1081=) c.2799C>T (p.Leu933=) n.382C>T | |
8 | g.125032333G>C | CA462767097 | WASHC5 | c.3243C>G (p.Leu1081=) c.2799C>G (p.Leu933=) n.382C>G | |
8 | g.125032333G>T | CA462767096 | WASHC5 | c.3243C>A (p.Leu1081=) c.2799C>A (p.Leu933=) n.382C>A | gnomAD v4 |
8 | g.125032334A>C | CA372181824 | WASHC5 | c.3242T>G (p.Leu1081Arg) c.2798T>G (p.Leu933Arg) n.381T>G | |
8 | g.125032334A>G | CA372181813 | WASHC5 | c.3242T>C (p.Leu1081Pro) c.2798T>C (p.Leu933Pro) n.381T>C | |
8 | g.125032334A>T | CA372181816 | WASHC5 | c.3242T>A (p.Leu1081His) c.2798T>A (p.Leu933His) n.381T>A | |
8 | g.125032335G>A | CA372181829 | WASHC5 | c.3241C>T (p.Leu1081Phe) c.2797C>T (p.Leu933Phe) n.380C>T | |
8 | g.125032335G>C | CA372181835 | WASHC5 | c.3241C>G (p.Leu1081Val) c.2797C>G (p.Leu933Val) n.380C>G | gnomAD v4 |
8 | g.125032335G>T | CA372181839 | WASHC5 | c.3241C>A (p.Leu1081Ile) c.2797C>A (p.Leu933Ile) n.380C>A | |
8 | g.125032336C>A | CA462767103 | WASHC5 | c.3240G>T (p.Leu1080=) c.2796G>T (p.Leu932=) n.379G>T | |
8 | g.125032336C= | CA1817254866 | WASHC5 | c.3240G= (p.Leu1080=) c.2796G= (p.Leu932=) n.379G= | |
8 | g.125032336C>G | CA462767104 | WASHC5 | c.3240G>C (p.Leu1080=) c.2796G>C (p.Leu932=) n.379G>C | |
8 | g.125032336C>T | CA462767107 | WASHC5 | c.3240G>A (p.Leu1080=) c.2796G>A (p.Leu932=) n.379G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125032337A= | CA1817254867 | WASHC5 | c.3239T= (p.Leu1080=) c.2795T= (p.Leu932=) n.378T= | |
8 | g.125032337A>C | CA372181841 | WASHC5 | c.3239T>G (p.Leu1080Arg) c.2795T>G (p.Leu932Arg) n.378T>G | |
8 | g.125032337A>G | CA185284593 | WASHC5 | c.3239T>C (p.Leu1080Pro) c.2795T>C (p.Leu932Pro) n.378T>C | dbSNP |
8 | g.125032337A>T | CA372181847 | WASHC5 | c.3239T>A (p.Leu1080Gln) c.2795T>A (p.Leu932Gln) n.378T>A | |
8 | g.125032338G>A | CA462767113 | WASHC5 | c.3238C>T (p.Leu1080=) c.2794C>T (p.Leu932=) n.377C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125032338G>C | CA372181852 | WASHC5 | c.3238C>G (p.Leu1080Val) c.2794C>G (p.Leu932Val) n.377C>G | |
8 | g.125032338G= | CA1817254868 | WASHC5 | c.3238C= (p.Leu1080=) c.2794C= (p.Leu932=) n.377C= | |
8 | g.125032338G>T | CA372181853 | WASHC5 | c.3238C>A (p.Leu1080Met) c.2794C>A (p.Leu932Met) n.377C>A | |
8 | g.125032339T>A | CA462767115 | WASHC5 | c.3237A>T (p.Gly1079=) c.2793A>T (p.Gly931=) n.376A>T | |
8 | g.125032339T>C | CA462767117 | WASHC5 | c.3237A>G (p.Gly1079=) c.2793A>G (p.Gly931=) n.376A>G | |
8 | g.125032339T>G | CA462767118 | WASHC5 | c.3237A>C (p.Gly1079=) c.2793A>C (p.Gly931=) n.376A>C | |
8 | g.125032339T= | CA1817254869 | WASHC5 | c.3237A= (p.Gly1079=) c.2793A= (p.Gly931=) n.376A= | |
8 | g.125032340C>A | CA372181854 | WASHC5 | c.3236G>T (p.Gly1079Val) c.2792G>T (p.Gly931Val) n.375G>T | |
8 | g.125032340C>G | CA372181862 | WASHC5 | c.3236G>C (p.Gly1079Ala) c.2792G>C (p.Gly931Ala) n.375G>C | |
8 | g.125032340C>T | CA372181882 | WASHC5 | c.3236G>A (p.Gly1079Glu) c.2792G>A (p.Gly931Glu) n.375G>A | |
8 | g.125032342dup | CA1817254870 | WASHC5 | c.3236dup (p.Leu1080ThrfsTer?) c.2792dup (p.Leu932ThrfsTer?) n.375dup | dbSNP |
8 | g.125032341C>A | CA372181889 | WASHC5 | c.3235G>T (p.Gly1079Ter) c.2791G>T (p.Gly931Ter) n.374G>T | |
8 | g.125032341C>G | CA372181888 | WASHC5 | c.3235G>C (p.Gly1079Arg) c.2791G>C (p.Gly931Arg) n.374G>C | |
8 | g.125032341C>T | CA372181887 | WASHC5 | c.3235G>A (p.Gly1079Arg) c.2791G>A (p.Gly931Arg) n.374G>A | |
8 | g.125032342C>A | CA462767128 | WASHC5 | c.3234G>T (p.Leu1078=) c.2790G>T (p.Leu930=) n.373G>T | |
8 | g.125032342C= | CA1817254871 | WASHC5 | c.3234G= (p.Leu1078=) c.2790G= (p.Leu930=) n.373G= | |
8 | g.125032342C>G | CA462767129 | WASHC5 | c.3234G>C (p.Leu1078=) c.2790G>C (p.Leu930=) n.373G>C | |
8 | g.125032342C>T | CA462767131 | WASHC5 | c.3234G>A (p.Leu1078=) c.2790G>A (p.Leu930=) n.373G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125032343A>C | CA372181892 | WASHC5 | c.3233T>G (p.Leu1078Arg) c.2789T>G (p.Leu930Arg) n.372T>G | |
8 | g.125032343A>G | CA372181895 | WASHC5 | c.3233T>C (p.Leu1078Pro) c.2789T>C (p.Leu930Pro) n.372T>C | |
8 | g.125032343A>T | CA372181900 | WASHC5 | c.3233T>A (p.Leu1078Gln) c.2789T>A (p.Leu930Gln) n.372T>A | |
8 | g.125032344G>A | CA462767137 | WASHC5 | c.3232C>T (p.Leu1078=) c.2788C>T (p.Leu930=) n.371C>T | |
8 | g.125032344G>C | CA4873271 | WASHC5 | c.3232C>G (p.Leu1078Val) c.2788C>G (p.Leu930Val) n.371C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125032344G= | CA1817254872 | WASHC5 | c.3232C= (p.Leu1078=) c.2788C= (p.Leu930=) n.371C= | |
8 | g.125032344G>T | CA372181906 | WASHC5 | c.3232C>A (p.Leu1078Met) c.2788C>A (p.Leu930Met) n.371C>A | |
8 | g.125032345G>A | CA462767141 | WASHC5 | c.3231C>T (p.Val1077=) c.2787C>T (p.Val929=) n.370C>T | |
8 | g.125032345G>C | CA462767142 | WASHC5 | c.3231C>G (p.Val1077=) c.2787C>G (p.Val929=) n.370C>G | |
8 | g.125032345G>T | CA462767144 | WASHC5 | c.3231C>A (p.Val1077=) c.2787C>A (p.Val929=) n.370C>A | |
8 | g.125032346A>C | CA372181919 | WASHC5 | c.3230T>G (p.Val1077Gly) c.2786T>G (p.Val929Gly) n.369T>G | |
8 | g.125032346A>G | CA372181916 | WASHC5 | c.3230T>C (p.Val1077Ala) c.2786T>C (p.Val929Ala) n.369T>C | |
8 | g.125032346A>T | CA372181913 | WASHC5 | c.3230T>A (p.Val1077Asp) c.2786T>A (p.Val929Asp) n.369T>A | |
8 | g.125032347C>A | CA372181922 | WASHC5 | c.3229G>T (p.Val1077Phe) c.2785G>T (p.Val929Phe) n.368G>T | |
8 | g.125032347C= | CA1817254873 | WASHC5 | c.3229G= (p.Val1077=) c.2785G= (p.Val929=) n.368G= | |
8 | g.125032347C>G | CA185284604 | WASHC5 | c.3229G>C (p.Val1077Leu) c.2785G>C (p.Val929Leu) n.368G>C | dbSNP gnomAD v4 |
8 | g.125032347C>T | CA372181926 | WASHC5 | c.3229G>A (p.Val1077Ile) c.2785G>A (p.Val929Ile) n.368G>A | |
8 | g.125032348A>C | CA462767152 | WASHC5 | c.3228T>G (p.Leu1076=) c.2784T>G (p.Leu928=) n.367T>G | |
8 | g.125032348A>G | CA462767153 | WASHC5 | c.3228T>C (p.Leu1076=) c.2784T>C (p.Leu928=) n.367T>C | |
8 | g.125032348A>T | CA462767155 | WASHC5 | c.3228T>A (p.Leu1076=) c.2784T>A (p.Leu928=) n.367T>A | |
8 | g.125032349A>C | CA372181933 | WASHC5 | c.3227T>G (p.Leu1076Arg) c.2783T>G (p.Leu928Arg) n.366T>G | |
8 | g.125032349A>G | CA372181935 | WASHC5 | c.3227T>C (p.Leu1076Pro) c.2783T>C (p.Leu928Pro) n.366T>C | |
8 | g.125032349A>T | CA372181936 | WASHC5 | c.3227T>A (p.Leu1076His) c.2783T>A (p.Leu928His) n.366T>A | |
8 | g.125032350G>A | CA372181939 | WASHC5 | c.3226C>T (p.Leu1076Phe) c.2782C>T (p.Leu928Phe) n.365C>T | |
8 | g.125032350G>C | CA372181948 | WASHC5 | c.3226C>G (p.Leu1076Val) c.2782C>G (p.Leu928Val) n.365C>G | |
8 | g.125032350G>T | CA372181944 | WASHC5 | c.3226C>A (p.Leu1076Ile) c.2782C>A (p.Leu928Ile) n.365C>A | |
8 | g.125032354_125032356del | CA2782078418 | WASHC5 | c.3224_3226del (p.Pro1075del) c.2780_2782del (p.Pro927del) n.363_365del | |
8 | g.125032351T>A | CA462767162 | WASHC5 | c.3225A>T (p.Pro1075=) c.2781A>T (p.Pro927=) n.364A>T | |
8 | g.125032351T>C | CA4873272 | WASHC5 | c.3225A>G (p.Pro1075=) c.2781A>G (p.Pro927=) n.364A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125032351T>G | CA462767164 | WASHC5 | c.3225A>C (p.Pro1075=) c.2781A>C (p.Pro927=) n.364A>C | |
8 | g.125032351T= | CA1817254874 | WASHC5 | c.3225A= (p.Pro1075=) c.2781A= (p.Pro927=) n.364A= |