Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.125032251G>ACA372181001WASHC5c.3325C>T (p.Gln1109Ter)
c.2881C>T (p.Gln961Ter)
n.464C>T
dbSNP
8g.125032251G>CCA372181005WASHC5c.3325C>G (p.Gln1109Glu)
c.2881C>G (p.Gln961Glu)
n.464C>G
8g.125032251G=CA1817254834WASHC5c.3325C= (p.Gln1109=)
c.2881C= (p.Gln961=)
n.464C=
8g.125032251G>TCA372181008WASHC5c.3325C>A (p.Gln1109Lys)
c.2881C>A (p.Gln961Lys)
n.464C>A
8g.125032252C>ACA372181020WASHC5c.3324G>T (p.Glu1108Asp)
c.2880G>T (p.Glu960Asp)
n.463G>T
8g.125032252C>GCA372181012WASHC5c.3324G>C (p.Glu1108Asp)
c.2880G>C (p.Glu960Asp)
n.463G>C
8g.125032252C>TCA462766805WASHC5c.3324G>A (p.Glu1108=)
c.2880G>A (p.Glu960=)
n.463G>A
gnomAD v4
8g.125032253T>ACA372181039WASHC5c.3323A>T (p.Glu1108Val)
c.2879A>T (p.Glu960Val)
n.462A>T
8g.125032253T>CCA372181042WASHC5c.3323A>G (p.Glu1108Gly)
c.2879A>G (p.Glu960Gly)
n.462A>G
8g.125032253T>GCA372181044WASHC5c.3323A>C (p.Glu1108Ala)
c.2879A>C (p.Glu960Ala)
n.462A>C
8g.125032254C>ACA372181049WASHC5c.3322G>T (p.Glu1108Ter)
c.2878G>T (p.Glu960Ter)
n.461G>T
8g.125032254C=CA1817254835WASHC5c.3322G= (p.Glu1108=)
c.2878G= (p.Glu960=)
n.461G=
8g.125032254C>GCA372181053WASHC5c.3322G>C (p.Glu1108Gln)
c.2878G>C (p.Glu960Gln)
n.461G>C
dbSNP gnomAD v3 gnomAD v4
8g.125032254C>TCA372181055WASHC5c.3322G>A (p.Glu1108Lys)
c.2878G>A (p.Glu960Lys)
n.461G>A
8g.125032255C>ACA462766815WASHC5c.3321G>T (p.Val1107=)
c.2877G>T (p.Val959=)
n.460G>T
8g.125032255C=CA1817254836WASHC5c.3321G= (p.Val1107=)
c.2877G= (p.Val959=)
n.460G=
8g.125032255C>GCA462766817WASHC5c.3321G>C (p.Val1107=)
c.2877G>C (p.Val959=)
n.460G>C
8g.125032255C>TCA462766818WASHC5c.3321G>A (p.Val1107=)
c.2877G>A (p.Val959=)
n.460G>A
dbSNP gnomAD v2 gnomAD v4
8g.125032256A>CCA372181064WASHC5c.3320T>G (p.Val1107Gly)
c.2876T>G (p.Val959Gly)
n.459T>G
8g.125032256A>GCA372181068WASHC5c.3320T>C (p.Val1107Ala)
c.2876T>C (p.Val959Ala)
n.459T>C
8g.125032256A>TCA372181073WASHC5c.3320T>A (p.Val1107Glu)
c.2876T>A (p.Val959Glu)
n.459T>A
8g.125032257C>ACA4873255WASHC5c.3319G>T (p.Val1107Leu)
c.2875G>T (p.Val959Leu)
n.458G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125032257C=CA1817254837WASHC5c.3319G= (p.Val1107=)
c.2875G= (p.Val959=)
n.458G=
8g.125032257C>GCA372181077WASHC5c.3319G>C (p.Val1107Leu)
c.2875G>C (p.Val959Leu)
n.458G>C
8g.125032257C>TCA202092WASHC5c.3319G>A (p.Val1107Met)
c.2875G>A (p.Val959Met)
n.458G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.125032258C>ACA462766827WASHC5c.3318G>T (p.Thr1106=)
c.2874G>T (p.Thr958=)
n.457G>T
8g.125032258C=CA1817254838WASHC5c.3318G= (p.Thr1106=)
c.2874G= (p.Thr958=)
n.457G=
8g.125032258C>GCA462766829WASHC5c.3318G>C (p.Thr1106=)
c.2874G>C (p.Thr958=)
n.457G>C
dbSNP gnomAD v3 gnomAD v4
8g.125032258C>TCA4873256WASHC5c.3318G>A (p.Thr1106=)
c.2874G>A (p.Thr958=)
n.457G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125032259G>ACA4873257WASHC5c.3317C>T (p.Thr1106Met)
c.2873C>T (p.Thr958Met)
n.456C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125032259G>CCA372181094WASHC5c.3317C>G (p.Thr1106Arg)
c.2873C>G (p.Thr958Arg)
n.456C>G
8g.125032259G=CA1817254839WASHC5c.3317C= (p.Thr1106=)
c.2873C= (p.Thr958=)
n.456C=
8g.125032259G>TCA372181089WASHC5c.3317C>A (p.Thr1106Lys)
c.2873C>A (p.Thr958Lys)
n.456C>A
8g.125032260T>ACA372181095WASHC5c.3316A>T (p.Thr1106Ser)
c.2872A>T (p.Thr958Ser)
n.455A>T
8g.125032260T>CCA372181096WASHC5c.3316A>G (p.Thr1106Ala)
c.2872A>G (p.Thr958Ala)
n.455A>G
8g.125032260T>GCA372181098WASHC5c.3316A>C (p.Thr1106Pro)
c.2872A>C (p.Thr958Pro)
n.455A>C
8g.125032261G>ACA462766840WASHC5c.3315C>T (p.Ser1105=)
c.2871C>T (p.Ser957=)
n.454C>T
8g.125032261G>CCA462766842WASHC5c.3315C>G (p.Ser1105=)
c.2871C>G (p.Ser957=)
n.454C>G
8g.125032261G>TCA462766843WASHC5c.3315C>A (p.Ser1105=)
c.2871C>A (p.Ser957=)
n.454C>A
8g.125032262G>ACA4873258WASHC5c.3314C>T (p.Ser1105Phe)
c.2870C>T (p.Ser957Phe)
n.453C>T
dbSNP ExAC gnomAD v2 gnomAD v4
8g.125032262G>CCA372181106WASHC5c.3314C>G (p.Ser1105Cys)
c.2870C>G (p.Ser957Cys)
n.453C>G
8g.125032262G=CA1817254840WASHC5c.3314C= (p.Ser1105=)
c.2870C= (p.Ser957=)
n.453C=
8g.125032262G>TCA372181111WASHC5c.3314C>A (p.Ser1105Tyr)
c.2870C>A (p.Ser957Tyr)
n.453C>A
8g.125032263A>CCA372181116WASHC5c.3313T>G (p.Ser1105Ala)
c.2869T>G (p.Ser957Ala)
n.452T>G
8g.125032263A>GCA372181131WASHC5c.3313T>C (p.Ser1105Pro)
c.2869T>C (p.Ser957Pro)
n.452T>C
8g.125032263A>TCA372181135WASHC5c.3313T>A (p.Ser1105Thr)
c.2869T>A (p.Ser957Thr)
n.452T>A
8g.125032264G>ACA462766849WASHC5c.3312C>T (p.Cys1104=)
c.2868C>T (p.Cys956=)
n.451C>T
8g.125032264G>CCA372181141WASHC5c.3312C>G (p.Cys1104Trp)
c.2868C>G (p.Cys956Trp)
n.451C>G
8g.125032264G>TCA372181142WASHC5c.3312C>A (p.Cys1104Ter)
c.2868C>A (p.Cys956Ter)
n.451C>A
gnomAD v4
8g.125032265C>ACA372181158WASHC5c.3311G>T (p.Cys1104Phe)
c.2867G>T (p.Cys956Phe)
n.450G>T
8g.125032265C>GCA372181155WASHC5c.3311G>C (p.Cys1104Ser)
c.2867G>C (p.Cys956Ser)
n.450G>C
gnomAD v4
8g.125032265C>TCA372181144WASHC5c.3311G>A (p.Cys1104Tyr)
c.2867G>A (p.Cys956Tyr)
n.450G>A
8g.125032266A>CCA372181160WASHC5c.3310T>G (p.Cys1104Gly)
c.2866T>G (p.Cys956Gly)
n.449T>G
8g.125032266A>GCA372181162WASHC5c.3310T>C (p.Cys1104Arg)
c.2866T>C (p.Cys956Arg)
n.449T>C
8g.125032266A>TCA372181168WASHC5c.3310T>A (p.Cys1104Ser)
c.2866T>A (p.Cys956Ser)
n.449T>A
8g.125032267G>ACA462766858WASHC5c.3309C>T (p.Ile1103=)
c.2865C>T (p.Ile955=)
n.448C>T
gnomAD v4
8g.125032267G>CCA372181175WASHC5c.3309C>G (p.Ile1103Met)
c.2865C>G (p.Ile955Met)
n.448C>G
8g.125032267G>TCA462766862WASHC5c.3309C>A (p.Ile1103=)
c.2865C>A (p.Ile955=)
n.448C>A
8g.125032268A>CCA372181179WASHC5c.3308T>G (p.Ile1103Ser)
c.2864T>G (p.Ile955Ser)
n.447T>G
8g.125032268A>GCA372181184WASHC5c.3308T>C (p.Ile1103Thr)
c.2864T>C (p.Ile955Thr)
n.447T>C
8g.125032268A>TCA372181188WASHC5c.3308T>A (p.Ile1103Asn)
c.2864T>A (p.Ile955Asn)
n.447T>A
8g.125032269T>ACA372181194WASHC5c.3307A>T (p.Ile1103Phe)
c.2863A>T (p.Ile955Phe)
n.446A>T
8g.125032269T>CCA4873259WASHC5c.3307A>G (p.Ile1103Val)
c.2863A>G (p.Ile955Val)
n.446A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125032269T>GCA372181207WASHC5c.3307A>C (p.Ile1103Leu)
c.2863A>C (p.Ile955Leu)
n.446A>C
8g.125032269T=CA1817254841WASHC5c.3307A= (p.Ile1103=)
c.2863A= (p.Ile955=)
n.446A=
8g.125032270A>CCA372181208WASHC5c.3306T>G (p.Phe1102Leu)
c.2862T>G (p.Phe954Leu)
n.445T>G
8g.125032270A>GCA462766871WASHC5c.3306T>C (p.Phe1102=)
c.2862T>C (p.Phe954=)
n.445T>C
8g.125032270A>TCA372181209WASHC5c.3306T>A (p.Phe1102Leu)
c.2862T>A (p.Phe954Leu)
n.445T>A
8g.125032271A>CCA372181230WASHC5c.3305T>G (p.Phe1102Cys)
c.2861T>G (p.Phe954Cys)
n.444T>G
8g.125032271A>GCA372181219WASHC5c.3305T>C (p.Phe1102Ser)
c.2861T>C (p.Phe954Ser)
n.444T>C
8g.125032271A>TCA372181213WASHC5c.3305T>A (p.Phe1102Tyr)
c.2861T>A (p.Phe954Tyr)
n.444T>A
gnomAD v4
8g.125032272A>CCA372181238WASHC5c.3304T>G (p.Phe1102Val)
c.2860T>G (p.Phe954Val)
n.443T>G
8g.125032272A>GCA372181236WASHC5c.3304T>C (p.Phe1102Leu)
c.2860T>C (p.Phe954Leu)
n.443T>C
8g.125032272A>TCA372181237WASHC5c.3304T>A (p.Phe1102Ile)
c.2860T>A (p.Phe954Ile)
n.443T>A
8g.125032273C>ACA372181241WASHC5c.3303G>T (p.Gln1101His)
c.2859G>T (p.Gln953His)
n.442G>T
8g.125032273C>GCA372181243WASHC5c.3303G>C (p.Gln1101His)
c.2859G>C (p.Gln953His)
n.442G>C
8g.125032273C>TCA462766881WASHC5c.3303G>A (p.Gln1101=)
c.2859G>A (p.Gln953=)
n.442G>A
8g.125032274T>ACA372181249WASHC5c.3302A>T (p.Gln1101Leu)
c.2858A>T (p.Gln953Leu)
n.441A>T
8g.125032274T>CCA372181255WASHC5c.3302A>G (p.Gln1101Arg)
c.2858A>G (p.Gln953Arg)
n.441A>G
8g.125032274T>GCA372181257WASHC5c.3302A>C (p.Gln1101Pro)
c.2858A>C (p.Gln953Pro)
n.441A>C
8g.125032275G>ACA372181258WASHC5c.3301C>T (p.Gln1101Ter)
c.2857C>T (p.Gln953Ter)
n.440C>T
8g.125032275G>CCA372181263WASHC5c.3301C>G (p.Gln1101Glu)
c.2857C>G (p.Gln953Glu)
n.440C>G
8g.125032275G>TCA372181261WASHC5c.3301C>A (p.Gln1101Lys)
c.2857C>A (p.Gln953Lys)
n.440C>A
8g.125032276G>ACA4873260WASHC5c.3300C>T (p.Gly1100=)
c.2856C>T (p.Gly952=)
n.439C>T
dbSNP ExAC gnomAD v2 gnomAD v4
8g.125032276G>CCA462766890WASHC5c.3300C>G (p.Gly1100=)
c.2856C>G (p.Gly952=)
n.439C>G
8g.125032276G=CA1817254842WASHC5c.3300C= (p.Gly1100=)
c.2856C= (p.Gly952=)
n.439C=
8g.125032276G>TCA462766892WASHC5c.3300C>A (p.Gly1100=)
c.2856C>A (p.Gly952=)
n.439C>A
8g.125032277C>ACA372181275WASHC5c.3299G>T (p.Gly1100Val)
c.2855G>T (p.Gly952Val)
n.438G>T
gnomAD v4
8g.125032277C>GCA372181278WASHC5c.3299G>C (p.Gly1100Ala)
c.2855G>C (p.Gly952Ala)
n.438G>C
8g.125032277C>TCA372181282WASHC5c.3299G>A (p.Gly1100Asp)
c.2855G>A (p.Gly952Asp)
n.438G>A
8g.125032278C>ACA372181288WASHC5c.3298G>T (p.Gly1100Cys)
c.2854G>T (p.Gly952Cys)
n.437G>T
8g.125032278C>GCA372181283WASHC5c.3298G>C (p.Gly1100Arg)
c.2854G>C (p.Gly952Arg)
n.437G>C
8g.125032278C>TCA372181285WASHC5c.3298G>A (p.Gly1100Ser)
c.2854G>A (p.Gly952Ser)
n.437G>A
COSMIC
8g.125032279A>CCA372181295WASHC5c.3297T>G (p.Ile1099Met)
c.2853T>G (p.Ile951Met)
n.436T>G
8g.125032279A>GCA462766899WASHC5c.3297T>C (p.Ile1099=)
c.2853T>C (p.Ile951=)
n.436T>C
8g.125032279A>TCA462766902WASHC5c.3297T>A (p.Ile1099=)
c.2853T>A (p.Ile951=)
n.436T>A
8g.125032280A=CA1817254843WASHC5c.3296T= (p.Ile1099=)
c.2852T= (p.Ile951=)
n.435T=
8g.125032280A>CCA372181303WASHC5c.3296T>G (p.Ile1099Ser)
c.2852T>G (p.Ile951Ser)
n.435T>G
8g.125032280A>GCA242783WASHC5c.3296T>C (p.Ile1099Thr)
c.2852T>C (p.Ile951Thr)
n.435T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125032280A>TCA372181316WASHC5c.3296T>A (p.Ile1099Asn)
c.2852T>A (p.Ile951Asn)
n.435T>A
8g.125032281T>ACA372181319WASHC5c.3295A>T (p.Ile1099Phe)
c.2851A>T (p.Ile951Phe)
n.434A>T
8g.125032281T>CCA372181320WASHC5c.3295A>G (p.Ile1099Val)
c.2851A>G (p.Ile951Val)
n.434A>G
8g.125032281T>GCA372181321WASHC5c.3295A>C (p.Ile1099Leu)
c.2851A>C (p.Ile951Leu)
n.434A>C
8g.125032282C>ACA462766912WASHC5c.3294G>T (p.Leu1098=)
c.2850G>T (p.Leu950=)
n.433G>T
8g.125032282C>GCA462766913WASHC5c.3294G>C (p.Leu1098=)
c.2850G>C (p.Leu950=)
n.433G>C
8g.125032282C>TCA462766915WASHC5c.3294G>A (p.Leu1098=)
c.2850G>A (p.Leu950=)
n.433G>A
COSMIC
8g.125032283A>CCA372181323WASHC5c.3293T>G (p.Leu1098Arg)
c.2849T>G (p.Leu950Arg)
n.432T>G
8g.125032283A>GCA372181326WASHC5c.3293T>C (p.Leu1098Pro)
c.2849T>C (p.Leu950Pro)
n.432T>C
8g.125032283A>TCA372181328WASHC5c.3293T>A (p.Leu1098Gln)
c.2849T>A (p.Leu950Gln)
n.432T>A
8g.125032284G>ACA462766922WASHC5c.3292C>T (p.Leu1098=)
c.2848C>T (p.Leu950=)
n.431C>T
8g.125032284G>CCA372181332WASHC5c.3292C>G (p.Leu1098Val)
c.2848C>G (p.Leu950Val)
n.431C>G
8g.125032284G>TCA372181335WASHC5c.3292C>A (p.Leu1098Met)
c.2848C>A (p.Leu950Met)
n.431C>A
8g.125032285C>ACA462766923WASHC5c.3291G>T (p.Ala1097=)
c.2847G>T (p.Ala949=)
n.430G>T
8g.125032285C=CA1817254844WASHC5c.3291G= (p.Ala1097=)
c.2847G= (p.Ala949=)
n.430G=
8g.125032285C>GCA462766925WASHC5c.3291G>C (p.Ala1097=)
c.2847G>C (p.Ala949=)
n.430G>C
8g.125032285C>TCA153332WASHC5c.3291G>A (p.Ala1097=)
c.2847G>A (p.Ala949=)
n.430G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125032286G>ACA372181340WASHC5c.3290C>T (p.Ala1097Val)
c.2846C>T (p.Ala949Val)
n.429C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.125032286G>CCA372181372WASHC5c.3290C>G (p.Ala1097Gly)
c.2846C>G (p.Ala949Gly)
n.429C>G
8g.125032286G=CA1817254845WASHC5c.3290C= (p.Ala1097=)
c.2846C= (p.Ala949=)
n.429C=
8g.125032286G>TCA372181355WASHC5c.3290C>A (p.Ala1097Glu)
c.2846C>A (p.Ala949Glu)
n.429C>A
8g.125032287C>ACA372181380WASHC5c.3289G>T (p.Ala1097Ser)
c.2845G>T (p.Ala949Ser)
n.428G>T
8g.125032287C>GCA372181383WASHC5c.3289G>C (p.Ala1097Pro)
c.2845G>C (p.Ala949Pro)
n.428G>C
8g.125032287C>TCA372181386WASHC5c.3289G>A (p.Ala1097Thr)
c.2845G>A (p.Ala949Thr)
n.428G>A
8g.125032288C>ACA462766934WASHC5c.3288G>T (p.Leu1096=)
c.2844G>T (p.Leu948=)
n.427G>T
8g.125032288C=CA1817254846WASHC5c.3288G= (p.Leu1096=)
c.2844G= (p.Leu948=)
n.427G=
8g.125032288C>GCA462766935WASHC5c.3288G>C (p.Leu1096=)
c.2844G>C (p.Leu948=)
n.427G>C
8g.125032288C>TCA462766937WASHC5c.3288G>A (p.Leu1096=)
c.2844G>A (p.Leu948=)
n.427G>A
8g.125032288_125032289insCTAATCA1817254847WASHC5c.3287_3288insATTAG (p.Ala1097LeufsTer4)
c.2843_2844insATTAG (p.Ala949LeufsTer4)
n.426_427insATTAG
dbSNP
8g.125032289A>CCA372181389WASHC5c.3287T>G (p.Leu1096Arg)
c.2843T>G (p.Leu948Arg)
n.426T>G
8g.125032289A>GCA372181393WASHC5c.3287T>C (p.Leu1096Pro)
c.2843T>C (p.Leu948Pro)
n.426T>C
8g.125032289A>TCA372181396WASHC5c.3287T>A (p.Leu1096Gln)
c.2843T>A (p.Leu948Gln)
n.426T>A
8g.125032290G>ACA462766942WASHC5c.3286C>T (p.Leu1096=)
c.2842C>T (p.Leu948=)
n.425C>T
dbSNP gnomAD v3 gnomAD v4
8g.125032290G>CCA372181399WASHC5c.3286C>G (p.Leu1096Val)
c.2842C>G (p.Leu948Val)
n.425C>G
gnomAD v4
8g.125032290G=CA1817254848WASHC5c.3286C= (p.Leu1096=)
c.2842C= (p.Leu948=)
n.425C=
8g.125032290G>TCA372181401WASHC5c.3286C>A (p.Leu1096Met)
c.2842C>A (p.Leu948Met)
n.425C>A
8g.125032290_125032291insAGATCA1817254849WASHC5c.3285_3286insATCT (p.Leu1096IlefsTer23)
c.2841_2842insATCT (p.Leu948IlefsTer23)
n.424_425insATCT
dbSNP
8g.125032291G>ACA462766944WASHC5c.3285C>T (p.Phe1095=)
c.2841C>T (p.Phe947=)
n.424C>T
gnomAD v4
8g.125032291G>CCA372181403WASHC5c.3285C>G (p.Phe1095Leu)
c.2841C>G (p.Phe947Leu)
n.424C>G
gnomAD v4
8g.125032291G>TCA372181417WASHC5c.3285C>A (p.Phe1095Leu)
c.2841C>A (p.Phe947Leu)
n.424C>A
8g.125032292A>CCA372181419WASHC5c.3284T>G (p.Phe1095Cys)
c.2840T>G (p.Phe947Cys)
n.423T>G
8g.125032292A>GCA372181420WASHC5c.3284T>C (p.Phe1095Ser)
c.2840T>C (p.Phe947Ser)
n.423T>C
8g.125032292A>TCA372181421WASHC5c.3284T>A (p.Phe1095Tyr)
c.2840T>A (p.Phe947Tyr)
n.423T>A
8g.125032293A>CCA372181425WASHC5c.3283T>G (p.Phe1095Val)
c.2839T>G (p.Phe947Val)
n.422T>G
8g.125032293A>GCA372181427WASHC5c.3283T>C (p.Phe1095Leu)
c.2839T>C (p.Phe947Leu)
n.422T>C
8g.125032293A>TCA372181426WASHC5c.3283T>A (p.Phe1095Ile)
c.2839T>A (p.Phe947Ile)
n.422T>A
8g.125032294C>ACA372181429WASHC5c.3282G>T (p.Gln1094His)
c.2838G>T (p.Gln946His)
n.421G>T
8g.125032294C=CA1817254850WASHC5c.3282G= (p.Gln1094=)
c.2838G= (p.Gln946=)
n.421G=
8g.125032294C>GCA372181430WASHC5c.3282G>C (p.Gln1094His)
c.2838G>C (p.Gln946His)
n.421G>C
dbSNP gnomAD v4
8g.125032294C>TCA4873261WASHC5c.3282G>A (p.Gln1094=)
c.2838G>A (p.Gln946=)
n.421G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125032295T>ACA372181439WASHC5c.3281A>T (p.Gln1094Leu)
c.2837A>T (p.Gln946Leu)
n.420A>T
8g.125032295T>CCA372181440WASHC5c.3281A>G (p.Gln1094Arg)
c.2837A>G (p.Gln946Arg)
n.420A>G
8g.125032295T>GCA372181444WASHC5c.3281A>C (p.Gln1094Pro)
c.2837A>C (p.Gln946Pro)
n.420A>C
8g.125032296G>ACA372181448WASHC5c.3280C>T (p.Gln1094Ter)
c.2836C>T (p.Gln946Ter)
n.419C>T
8g.125032296G>CCA372181450WASHC5c.3280C>G (p.Gln1094Glu)
c.2836C>G (p.Gln946Glu)
n.419C>G
8g.125032296G>TCA372181451WASHC5c.3280C>A (p.Gln1094Lys)
c.2836C>A (p.Gln946Lys)
n.419C>A
8g.125032297C>ACA372181453WASHC5c.3279G>T (p.Glu1093Asp)
c.2835G>T (p.Glu945Asp)
n.418G>T
8g.125032297C>GCA372181455WASHC5c.3279G>C (p.Glu1093Asp)
c.2835G>C (p.Glu945Asp)
n.418G>C
8g.125032297C>TCA462766961WASHC5c.3279G>A (p.Glu1093=)
c.2835G>A (p.Glu945=)
n.418G>A
8g.125032298T>ACA372181465WASHC5c.3278A>T (p.Glu1093Val)
c.2834A>T (p.Glu945Val)
n.417A>T
8g.125032298T>CCA372181467WASHC5c.3278A>G (p.Glu1093Gly)
c.2834A>G (p.Glu945Gly)
n.417A>G
8g.125032298T>GCA372181460WASHC5c.3278A>C (p.Glu1093Ala)
c.2834A>C (p.Glu945Ala)
n.417A>C
8g.125032299C>ACA372181470WASHC5c.3277G>T (p.Glu1093Ter)
c.2833G>T (p.Glu945Ter)
n.416G>T
8g.125032299C=CA1817254851WASHC5c.3277G= (p.Glu1093=)
c.2833G= (p.Glu945=)
n.416G=
8g.125032299C>GCA372181473WASHC5c.3277G>C (p.Glu1093Gln)
c.2833G>C (p.Glu945Gln)
n.416G>C
gnomAD v4
8g.125032299C>TCA4873262WASHC5c.3277G>A (p.Glu1093Lys)
c.2833G>A (p.Glu945Lys)
n.416G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125032300G>ACA4873263WASHC5c.3276C>T (p.Thr1092=)
c.2832C>T (p.Thr944=)
n.415C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125032300G>CCA462766972WASHC5c.3276C>G (p.Thr1092=)
c.2832C>G (p.Thr944=)
n.415C>G
dbSNP gnomAD v2 gnomAD v4
8g.125032300G=CA1817254852WASHC5c.3276C= (p.Thr1092=)
c.2832C= (p.Thr944=)
n.415C=
8g.125032300G>TCA462766970WASHC5c.3276C>A (p.Thr1092=)
c.2832C>A (p.Thr944=)
n.415C>A
gnomAD v4
8g.125032301G>ACA372181479WASHC5c.3275C>T (p.Thr1092Ile)
c.2831C>T (p.Thr944Ile)
n.414C>T
gnomAD v4
8g.125032301G>CCA372181477WASHC5c.3275C>G (p.Thr1092Ser)
c.2831C>G (p.Thr944Ser)
n.414C>G
8g.125032301G>TCA372181482WASHC5c.3275C>A (p.Thr1092Asn)
c.2831C>A (p.Thr944Asn)
n.414C>A
8g.125032302T>ACA372181484WASHC5c.3274A>T (p.Thr1092Ser)
c.2830A>T (p.Thr944Ser)
n.413A>T
dbSNP gnomAD v2 gnomAD v4
8g.125032302T>CCA372181485WASHC5c.3274A>G (p.Thr1092Ala)
c.2830A>G (p.Thr944Ala)
n.413A>G
8g.125032302T>GCA372181487WASHC5c.3274A>C (p.Thr1092Pro)
c.2830A>C (p.Thr944Pro)
n.413A>C
gnomAD v4
8g.125032302T=CA1817254853WASHC5c.3274A= (p.Thr1092=)
c.2830A= (p.Thr944=)
n.413A=
8g.125032303G>ACA462766983WASHC5c.3273C>T (p.Tyr1091=)
c.2829C>T (p.Tyr943=)
n.412C>T
8g.125032303G>CCA372181491WASHC5c.3273C>G (p.Tyr1091Ter)
c.2829C>G (p.Tyr943Ter)
n.412C>G
8g.125032303G>TCA372181496WASHC5c.3273C>A (p.Tyr1091Ter)
c.2829C>A (p.Tyr943Ter)
n.412C>A
8g.125032304T>ACA372181500WASHC5c.3272A>T (p.Tyr1091Phe)
c.2828A>T (p.Tyr943Phe)
n.411A>T
8g.125032304T>CCA372181501WASHC5c.3272A>G (p.Tyr1091Cys)
c.2828A>G (p.Tyr943Cys)
n.411A>G
8g.125032304T>GCA372181502WASHC5c.3272A>C (p.Tyr1091Ser)
c.2828A>C (p.Tyr943Ser)
n.411A>C
8g.125032305A>CCA372181506WASHC5c.3271T>G (p.Tyr1091Asp)
c.2827T>G (p.Tyr943Asp)
n.410T>G
8g.125032305A>GCA372181514WASHC5c.3271T>C (p.Tyr1091His)
c.2827T>C (p.Tyr943His)
n.410T>C
8g.125032305A>TCA372181520WASHC5c.3271T>A (p.Tyr1091Asn)
c.2827T>A (p.Tyr943Asn)
n.410T>A
8g.125032306C>ACA462766991WASHC5c.3270G>T (p.Arg1090=)
c.2826G>T (p.Arg942=)
n.409G>T
8g.125032306C>GCA462766995WASHC5c.3270G>C (p.Arg1090=)
c.2826G>C (p.Arg942=)
n.409G>C
8g.125032306C>TCA462766993WASHC5c.3270G>A (p.Arg1090=)
c.2826G>A (p.Arg942=)
n.409G>A
gnomAD v4
8g.125032307delCA2782078416WASHC5c.3270del (p.Tyr1091ThrfsTer8)
c.2826del (p.Tyr943ThrfsTer8)
n.409del
8g.125032307C>ACA4873264WASHC5c.3269G>T (p.Arg1090Leu)
c.2825G>T (p.Arg942Leu)
n.408G>T
dbSNP ExAC gnomAD v2 gnomAD v4
8g.125032307C=CA1817254854WASHC5c.3269G= (p.Arg1090=)
c.2825G= (p.Arg942=)
n.408G=
8g.125032307C>GCA372181526WASHC5c.3269G>C (p.Arg1090Pro)
c.2825G>C (p.Arg942Pro)
n.408G>C
8g.125032307C>TCA4873265WASHC5c.3269G>A (p.Arg1090Gln)
c.2825G>A (p.Arg942Gln)
n.408G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125032308G>ACA4873266WASHC5c.3268C>T (p.Arg1090Trp)
c.2824C>T (p.Arg942Trp)
n.407C>T
dbSNP ExAC gnomAD v2 gnomAD v4
8g.125032308G>CCA4873267WASHC5c.3268C>G (p.Arg1090Gly)
c.2824C>G (p.Arg942Gly)
n.407C>G
dbSNP ExAC gnomAD v2 gnomAD v4
8g.125032308G=CA1817254855WASHC5c.3268C= (p.Arg1090=)
c.2824C= (p.Arg942=)
n.407C=
8g.125032308G>TCA462767003WASHC5c.3268C>A (p.Arg1090=)
c.2824C>A (p.Arg942=)
n.407C>A
8g.125032309G>ACA4873268WASHC5c.3267C>T (p.Ser1089=)
c.2823C>T (p.Ser941=)
n.406C>T
dbSNP ExAC gnomAD v2 gnomAD v4
8g.125032309G>CCA462767006WASHC5c.3267C>G (p.Ser1089=)
c.2823C>G (p.Ser941=)
n.406C>G
COSMIC
8g.125032309G=CA1817254856WASHC5c.3267C= (p.Ser1089=)
c.2823C= (p.Ser941=)
n.406C=
8g.125032309G>TCA462767008WASHC5c.3267C>A (p.Ser1089=)
c.2823C>A (p.Ser941=)
n.406C>A
8g.125032310G>ACA372181554WASHC5c.3266C>T (p.Ser1089Phe)
c.2822C>T (p.Ser941Phe)
n.405C>T
8g.125032310G>CCA372181556WASHC5c.3266C>G (p.Ser1089Cys)
c.2822C>G (p.Ser941Cys)
n.405C>G
8g.125032310G=CA1817254857WASHC5c.3266C= (p.Ser1089=)
c.2822C= (p.Ser941=)
n.405C=
8g.125032310G>TCA372181557WASHC5c.3266C>A (p.Ser1089Tyr)
c.2822C>A (p.Ser941Tyr)
n.405C>A
dbSNP gnomAD v3 gnomAD v4
8g.125032310_125032311delinsGACA1817254858WASHC5c.3265_3266delinsTC (p.Ser1089=)
c.2821_2822delinsTC (p.Ser941=)
n.404_405delinsTC
8g.125032311A>CCA372181558WASHC5c.3265T>G (p.Ser1089Ala)
c.2821T>G (p.Ser941Ala)
n.404T>G
8g.125032311A>GCA372181566WASHC5c.3265T>C (p.Ser1089Pro)
c.2821T>C (p.Ser941Pro)
n.404T>C
8g.125032311A>TCA372181571WASHC5c.3265T>A (p.Ser1089Thr)
c.2821T>A (p.Ser941Thr)
n.404T>A
gnomAD v4
8g.125032312delCA1817254859WASHC5c.3265del (p.Ser1089ProfsTer10)
c.2821del (p.Ser941ProfsTer10)
n.404del
dbSNP gnomAD v4
8g.125032312A>CCA372181581WASHC5c.3264T>G (p.His1088Gln)
c.2820T>G (p.His940Gln)
n.403T>G
8g.125032312A>GCA462767017WASHC5c.3264T>C (p.His1088=)
c.2820T>C (p.His940=)
n.403T>C
8g.125032312A>TCA372181583WASHC5c.3264T>A (p.His1088Gln)
c.2820T>A (p.His940Gln)
n.403T>A
8g.125032313T>ACA372181597WASHC5c.3263A>T (p.His1088Leu)
c.2819A>T (p.His940Leu)
n.402A>T
8g.125032313T>CCA372181599WASHC5c.3263A>G (p.His1088Arg)
c.2819A>G (p.His940Arg)
n.402A>G
gnomAD v4
8g.125032313T>GCA372181591WASHC5c.3263A>C (p.His1088Pro)
c.2819A>C (p.His940Pro)
n.402A>C
8g.125032314G>ACA372181601WASHC5c.3262C>T (p.His1088Tyr)
c.2818C>T (p.His940Tyr)
n.401C>T
8g.125032314G>CCA372181603WASHC5c.3262C>G (p.His1088Asp)
c.2818C>G (p.His940Asp)
n.401C>G
8g.125032314G>TCA372181607WASHC5c.3262C>A (p.His1088Asn)
c.2818C>A (p.His940Asn)
n.401C>A
8g.125032315dupCA2573052968WASHC5c.3262dup (p.His1088ProfsTer30)
c.2818dup (p.His940ProfsTer30)
n.401dup
ClinVar dbSNP gnomAD v4
8g.125032315G>ACA462767026WASHC5c.3261C>T (p.Phe1087=)
c.2817C>T (p.Phe939=)
n.400C>T
dbSNP gnomAD v4
8g.125032315G>CCA372181610WASHC5c.3261C>G (p.Phe1087Leu)
c.2817C>G (p.Phe939Leu)
n.400C>G
8g.125032315G=CA1817254860WASHC5c.3261C= (p.Phe1087=)
c.2817C= (p.Phe939=)
n.400C=
8g.125032315G>TCA372181613WASHC5c.3261C>A (p.Phe1087Leu)
c.2817C>A (p.Phe939Leu)
n.400C>A
dbSNP gnomAD v3 gnomAD v4
8g.125032316A>CCA372181619WASHC5c.3260T>G (p.Phe1087Cys)
c.2816T>G (p.Phe939Cys)
n.399T>G
8g.125032316A>GCA372181622WASHC5c.3260T>C (p.Phe1087Ser)
c.2816T>C (p.Phe939Ser)
n.399T>C
8g.125032316A>TCA372181625WASHC5c.3260T>A (p.Phe1087Tyr)
c.2816T>A (p.Phe939Tyr)
n.399T>A
8g.125032317A=CA1817254861WASHC5c.3259T= (p.Phe1087=)
c.2815T= (p.Phe939=)
n.398T=
8g.125032317A>CCA372181630WASHC5c.3259T>G (p.Phe1087Val)
c.2815T>G (p.Phe939Val)
n.398T>G
8g.125032317A>GCA372181633WASHC5c.3259T>C (p.Phe1087Leu)
c.2815T>C (p.Phe939Leu)
n.398T>C
dbSNP gnomAD v4
8g.125032317A>TCA372181635WASHC5c.3259T>A (p.Phe1087Ile)
c.2815T>A (p.Phe939Ile)
n.398T>A
8g.125032318C>ACA372181642WASHC5c.3258G>T (p.Gln1086His)
c.2814G>T (p.Gln938His)
n.397G>T
8g.125032318C=CA1817254862WASHC5c.3258G= (p.Gln1086=)
c.2814G= (p.Gln938=)
n.397G=
8g.125032318C>GCA372181643WASHC5c.3258G>C (p.Gln1086His)
c.2814G>C (p.Gln938His)
n.397G>C
8g.125032318C>TCA462767039WASHC5c.3258G>A (p.Gln1086=)
c.2814G>A (p.Gln938=)
n.397G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.125032319T>ACA372181649WASHC5c.3257A>T (p.Gln1086Leu)
c.2813A>T (p.Gln938Leu)
n.396A>T
8g.125032319T>CCA372181648WASHC5c.3257A>G (p.Gln1086Arg)
c.2813A>G (p.Gln938Arg)
n.396A>G
8g.125032319T>GCA372181644WASHC5c.3257A>C (p.Gln1086Pro)
c.2813A>C (p.Gln938Pro)
n.396A>C
8g.125032320G>ACA372181652WASHC5c.3256C>T (p.Gln1086Ter)
c.2812C>T (p.Gln938Ter)
n.395C>T
8g.125032320G>CCA372181653WASHC5c.3256C>G (p.Gln1086Glu)
c.2812C>G (p.Gln938Glu)
n.395C>G
8g.125032320G>TCA372181662WASHC5c.3256C>A (p.Gln1086Lys)
c.2812C>A (p.Gln938Lys)
n.395C>A
8g.125032321C>ACA372181667WASHC5c.3255G>T (p.Lys1085Asn)
c.2811G>T (p.Lys937Asn)
n.394G>T
8g.125032321C>GCA372181668WASHC5c.3255G>C (p.Lys1085Asn)
c.2811G>C (p.Lys937Asn)
n.394G>C
8g.125032321C>TCA462767047WASHC5c.3255G>A (p.Lys1085=)
c.2811G>A (p.Lys937=)
n.394G>A
8g.125032322T>ACA372181669WASHC5c.3254A>T (p.Lys1085Met)
c.2810A>T (p.Lys937Met)
n.393A>T
COSMIC
8g.125032322T>CCA372181674WASHC5c.3254A>G (p.Lys1085Arg)
c.2810A>G (p.Lys937Arg)
n.393A>G
8g.125032322T>GCA372181682WASHC5c.3254A>C (p.Lys1085Thr)
c.2810A>C (p.Lys937Thr)
n.393A>C
8g.125032323T>ACA372181688WASHC5c.3253A>T (p.Lys1085Ter)
c.2809A>T (p.Lys937Ter)
n.392A>T
8g.125032323T>CCA372181707WASHC5c.3253A>G (p.Lys1085Glu)
c.2809A>G (p.Lys937Glu)
n.392A>G
8g.125032323T>GCA372181720WASHC5c.3253A>C (p.Lys1085Gln)
c.2809A>C (p.Lys937Gln)
n.392A>C
8g.125032324C>ACA462767057WASHC5c.3252G>T (p.Leu1084=)
c.2808G>T (p.Leu936=)
n.391G>T
8g.125032324C=CA1817254863WASHC5c.3252G= (p.Leu1084=)
c.2808G= (p.Leu936=)
n.391G=
8g.125032324C>GCA462767059WASHC5c.3252G>C (p.Leu1084=)
c.2808G>C (p.Leu936=)
n.391G>C
8g.125032324C>TCA4873269WASHC5c.3252G>A (p.Leu1084=)
c.2808G>A (p.Leu936=)
n.391G>A
dbSNP ExAC gnomAD v2 gnomAD v4
8g.125032325A>CCA372181746WASHC5c.3251T>G (p.Leu1084Arg)
c.2807T>G (p.Leu936Arg)
n.390T>G
8g.125032325A>GCA372181745WASHC5c.3251T>C (p.Leu1084Pro)
c.2807T>C (p.Leu936Pro)
n.390T>C
8g.125032325A>TCA372181744WASHC5c.3251T>A (p.Leu1084Gln)
c.2807T>A (p.Leu936Gln)
n.390T>A
8g.125032326G>ACA462767065WASHC5c.3250C>T (p.Leu1084=)
c.2806C>T (p.Leu936=)
n.389C>T
8g.125032326G>CCA372181749WASHC5c.3250C>G (p.Leu1084Val)
c.2806C>G (p.Leu936Val)
n.389C>G
8g.125032326G>TCA372181753WASHC5c.3250C>A (p.Leu1084Met)
c.2806C>A (p.Leu936Met)
n.389C>A
8g.125032327C>ACA462767070WASHC5c.3249G>T (p.Leu1083=)
c.2805G>T (p.Leu935=)
n.388G>T
8g.125032327C>GCA462767072WASHC5c.3249G>C (p.Leu1083=)
c.2805G>C (p.Leu935=)
n.388G>C
8g.125032327C>TCA462767073WASHC5c.3249G>A (p.Leu1083=)
c.2805G>A (p.Leu935=)
n.388G>A
8g.125032328A>CCA372181760WASHC5c.3248T>G (p.Leu1083Arg)
c.2804T>G (p.Leu935Arg)
n.387T>G
8g.125032328A>GCA372181764WASHC5c.3248T>C (p.Leu1083Pro)
c.2804T>C (p.Leu935Pro)
n.387T>C
8g.125032328A>TCA372181769WASHC5c.3248T>A (p.Leu1083Gln)
c.2804T>A (p.Leu935Gln)
n.387T>A
gnomAD v4
8g.125032330_125032331delCA2782078417WASHC5c.3247_3248del (p.Leu1083AlafsTer?)
c.2803_2804del (p.Leu935AlafsTer?)
n.386_387del
8g.125032329G>ACA4873270WASHC5c.3247C>T (p.Leu1083=)
c.2803C>T (p.Leu935=)
n.386C>T
dbSNP ExAC gnomAD v2 gnomAD v4
8g.125032329G>CCA372181775WASHC5c.3247C>G (p.Leu1083Val)
c.2803C>G (p.Leu935Val)
n.386C>G
8g.125032329G=CA1817254864WASHC5c.3247C= (p.Leu1083=)
c.2803C= (p.Leu935=)
n.386C=
8g.125032329G>TCA372181776WASHC5c.3247C>A (p.Leu1083Met)
c.2803C>A (p.Leu935Met)
n.386C>A
8g.125032330A=CA1817254865WASHC5c.3246T= (p.Thr1082=)
c.2802T= (p.Thr934=)
n.385T=
8g.125032330A>CCA462767082WASHC5c.3246T>G (p.Thr1082=)
c.2802T>G (p.Thr934=)
n.385T>G
8g.125032330A>GCA462767084WASHC5c.3246T>C (p.Thr1082=)
c.2802T>C (p.Thr934=)
n.385T>C
8g.125032330A>TCA462767085WASHC5c.3246T>A (p.Thr1082=)
c.2802T>A (p.Thr934=)
n.385T>A
dbSNP
8g.125032331G>ACA372181778WASHC5c.3245C>T (p.Thr1082Ile)
c.2801C>T (p.Thr934Ile)
n.384C>T
gnomAD v4
8g.125032331G>CCA372181783WASHC5c.3245C>G (p.Thr1082Ser)
c.2801C>G (p.Thr934Ser)
n.384C>G
gnomAD v4
8g.125032331G>TCA372181789WASHC5c.3245C>A (p.Thr1082Asn)
c.2801C>A (p.Thr934Asn)
n.384C>A
8g.125032332T>ACA372181806WASHC5c.3244A>T (p.Thr1082Ser)
c.2800A>T (p.Thr934Ser)
n.383A>T
8g.125032332T>CCA372181807WASHC5c.3244A>G (p.Thr1082Ala)
c.2800A>G (p.Thr934Ala)
n.383A>G
8g.125032332T>GCA372181811WASHC5c.3244A>C (p.Thr1082Pro)
c.2800A>C (p.Thr934Pro)
n.383A>C
8g.125032333G>ACA462767094WASHC5c.3243C>T (p.Leu1081=)
c.2799C>T (p.Leu933=)
n.382C>T
8g.125032333G>CCA462767097WASHC5c.3243C>G (p.Leu1081=)
c.2799C>G (p.Leu933=)
n.382C>G
8g.125032333G>TCA462767096WASHC5c.3243C>A (p.Leu1081=)
c.2799C>A (p.Leu933=)
n.382C>A
gnomAD v4
8g.125032334A>CCA372181824WASHC5c.3242T>G (p.Leu1081Arg)
c.2798T>G (p.Leu933Arg)
n.381T>G
8g.125032334A>GCA372181813WASHC5c.3242T>C (p.Leu1081Pro)
c.2798T>C (p.Leu933Pro)
n.381T>C
8g.125032334A>TCA372181816WASHC5c.3242T>A (p.Leu1081His)
c.2798T>A (p.Leu933His)
n.381T>A
8g.125032335G>ACA372181829WASHC5c.3241C>T (p.Leu1081Phe)
c.2797C>T (p.Leu933Phe)
n.380C>T
8g.125032335G>CCA372181835WASHC5c.3241C>G (p.Leu1081Val)
c.2797C>G (p.Leu933Val)
n.380C>G
gnomAD v4
8g.125032335G>TCA372181839WASHC5c.3241C>A (p.Leu1081Ile)
c.2797C>A (p.Leu933Ile)
n.380C>A
8g.125032336C>ACA462767103WASHC5c.3240G>T (p.Leu1080=)
c.2796G>T (p.Leu932=)
n.379G>T
8g.125032336C=CA1817254866WASHC5c.3240G= (p.Leu1080=)
c.2796G= (p.Leu932=)
n.379G=
8g.125032336C>GCA462767104WASHC5c.3240G>C (p.Leu1080=)
c.2796G>C (p.Leu932=)
n.379G>C
8g.125032336C>TCA462767107WASHC5c.3240G>A (p.Leu1080=)
c.2796G>A (p.Leu932=)
n.379G>A
dbSNP gnomAD v2 gnomAD v4
8g.125032337A=CA1817254867WASHC5c.3239T= (p.Leu1080=)
c.2795T= (p.Leu932=)
n.378T=
8g.125032337A>CCA372181841WASHC5c.3239T>G (p.Leu1080Arg)
c.2795T>G (p.Leu932Arg)
n.378T>G
8g.125032337A>GCA185284593WASHC5c.3239T>C (p.Leu1080Pro)
c.2795T>C (p.Leu932Pro)
n.378T>C
dbSNP
8g.125032337A>TCA372181847WASHC5c.3239T>A (p.Leu1080Gln)
c.2795T>A (p.Leu932Gln)
n.378T>A
8g.125032338G>ACA462767113WASHC5c.3238C>T (p.Leu1080=)
c.2794C>T (p.Leu932=)
n.377C>T
dbSNP gnomAD v2 gnomAD v4
8g.125032338G>CCA372181852WASHC5c.3238C>G (p.Leu1080Val)
c.2794C>G (p.Leu932Val)
n.377C>G
8g.125032338G=CA1817254868WASHC5c.3238C= (p.Leu1080=)
c.2794C= (p.Leu932=)
n.377C=
8g.125032338G>TCA372181853WASHC5c.3238C>A (p.Leu1080Met)
c.2794C>A (p.Leu932Met)
n.377C>A
8g.125032339T>ACA462767115WASHC5c.3237A>T (p.Gly1079=)
c.2793A>T (p.Gly931=)
n.376A>T
8g.125032339T>CCA462767117WASHC5c.3237A>G (p.Gly1079=)
c.2793A>G (p.Gly931=)
n.376A>G
8g.125032339T>GCA462767118WASHC5c.3237A>C (p.Gly1079=)
c.2793A>C (p.Gly931=)
n.376A>C
8g.125032339T=CA1817254869WASHC5c.3237A= (p.Gly1079=)
c.2793A= (p.Gly931=)
n.376A=
8g.125032340C>ACA372181854WASHC5c.3236G>T (p.Gly1079Val)
c.2792G>T (p.Gly931Val)
n.375G>T
8g.125032340C>GCA372181862WASHC5c.3236G>C (p.Gly1079Ala)
c.2792G>C (p.Gly931Ala)
n.375G>C
8g.125032340C>TCA372181882WASHC5c.3236G>A (p.Gly1079Glu)
c.2792G>A (p.Gly931Glu)
n.375G>A
8g.125032342dupCA1817254870WASHC5c.3236dup (p.Leu1080ThrfsTer?)
c.2792dup (p.Leu932ThrfsTer?)
n.375dup
dbSNP
8g.125032341C>ACA372181889WASHC5c.3235G>T (p.Gly1079Ter)
c.2791G>T (p.Gly931Ter)
n.374G>T
8g.125032341C>GCA372181888WASHC5c.3235G>C (p.Gly1079Arg)
c.2791G>C (p.Gly931Arg)
n.374G>C
8g.125032341C>TCA372181887WASHC5c.3235G>A (p.Gly1079Arg)
c.2791G>A (p.Gly931Arg)
n.374G>A
8g.125032342C>ACA462767128WASHC5c.3234G>T (p.Leu1078=)
c.2790G>T (p.Leu930=)
n.373G>T
8g.125032342C=CA1817254871WASHC5c.3234G= (p.Leu1078=)
c.2790G= (p.Leu930=)
n.373G=
8g.125032342C>GCA462767129WASHC5c.3234G>C (p.Leu1078=)
c.2790G>C (p.Leu930=)
n.373G>C
8g.125032342C>TCA462767131WASHC5c.3234G>A (p.Leu1078=)
c.2790G>A (p.Leu930=)
n.373G>A
dbSNP gnomAD v2 gnomAD v4
8g.125032343A>CCA372181892WASHC5c.3233T>G (p.Leu1078Arg)
c.2789T>G (p.Leu930Arg)
n.372T>G
8g.125032343A>GCA372181895WASHC5c.3233T>C (p.Leu1078Pro)
c.2789T>C (p.Leu930Pro)
n.372T>C
8g.125032343A>TCA372181900WASHC5c.3233T>A (p.Leu1078Gln)
c.2789T>A (p.Leu930Gln)
n.372T>A
8g.125032344G>ACA462767137WASHC5c.3232C>T (p.Leu1078=)
c.2788C>T (p.Leu930=)
n.371C>T
8g.125032344G>CCA4873271WASHC5c.3232C>G (p.Leu1078Val)
c.2788C>G (p.Leu930Val)
n.371C>G
dbSNP ExAC gnomAD v2 gnomAD v4
8g.125032344G=CA1817254872WASHC5c.3232C= (p.Leu1078=)
c.2788C= (p.Leu930=)
n.371C=
8g.125032344G>TCA372181906WASHC5c.3232C>A (p.Leu1078Met)
c.2788C>A (p.Leu930Met)
n.371C>A
8g.125032345G>ACA462767141WASHC5c.3231C>T (p.Val1077=)
c.2787C>T (p.Val929=)
n.370C>T
8g.125032345G>CCA462767142WASHC5c.3231C>G (p.Val1077=)
c.2787C>G (p.Val929=)
n.370C>G
8g.125032345G>TCA462767144WASHC5c.3231C>A (p.Val1077=)
c.2787C>A (p.Val929=)
n.370C>A
8g.125032346A>CCA372181919WASHC5c.3230T>G (p.Val1077Gly)
c.2786T>G (p.Val929Gly)
n.369T>G
8g.125032346A>GCA372181916WASHC5c.3230T>C (p.Val1077Ala)
c.2786T>C (p.Val929Ala)
n.369T>C
8g.125032346A>TCA372181913WASHC5c.3230T>A (p.Val1077Asp)
c.2786T>A (p.Val929Asp)
n.369T>A
8g.125032347C>ACA372181922WASHC5c.3229G>T (p.Val1077Phe)
c.2785G>T (p.Val929Phe)
n.368G>T
8g.125032347C=CA1817254873WASHC5c.3229G= (p.Val1077=)
c.2785G= (p.Val929=)
n.368G=
8g.125032347C>GCA185284604WASHC5c.3229G>C (p.Val1077Leu)
c.2785G>C (p.Val929Leu)
n.368G>C
dbSNP gnomAD v4
8g.125032347C>TCA372181926WASHC5c.3229G>A (p.Val1077Ile)
c.2785G>A (p.Val929Ile)
n.368G>A
8g.125032348A>CCA462767152WASHC5c.3228T>G (p.Leu1076=)
c.2784T>G (p.Leu928=)
n.367T>G
8g.125032348A>GCA462767153WASHC5c.3228T>C (p.Leu1076=)
c.2784T>C (p.Leu928=)
n.367T>C
8g.125032348A>TCA462767155WASHC5c.3228T>A (p.Leu1076=)
c.2784T>A (p.Leu928=)
n.367T>A
8g.125032349A>CCA372181933WASHC5c.3227T>G (p.Leu1076Arg)
c.2783T>G (p.Leu928Arg)
n.366T>G
8g.125032349A>GCA372181935WASHC5c.3227T>C (p.Leu1076Pro)
c.2783T>C (p.Leu928Pro)
n.366T>C
8g.125032349A>TCA372181936WASHC5c.3227T>A (p.Leu1076His)
c.2783T>A (p.Leu928His)
n.366T>A
8g.125032350G>ACA372181939WASHC5c.3226C>T (p.Leu1076Phe)
c.2782C>T (p.Leu928Phe)
n.365C>T
8g.125032350G>CCA372181948WASHC5c.3226C>G (p.Leu1076Val)
c.2782C>G (p.Leu928Val)
n.365C>G
8g.125032350G>TCA372181944WASHC5c.3226C>A (p.Leu1076Ile)
c.2782C>A (p.Leu928Ile)
n.365C>A
8g.125032354_125032356delCA2782078418WASHC5c.3224_3226del (p.Pro1075del)
c.2780_2782del (p.Pro927del)
n.363_365del
8g.125032351T>ACA462767162WASHC5c.3225A>T (p.Pro1075=)
c.2781A>T (p.Pro927=)
n.364A>T
8g.125032351T>CCA4873272WASHC5c.3225A>G (p.Pro1075=)
c.2781A>G (p.Pro927=)
n.364A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125032351T>GCA462767164WASHC5c.3225A>C (p.Pro1075=)
c.2781A>C (p.Pro927=)
n.364A>C
8g.125032351T=CA1817254874WASHC5c.3225A= (p.Pro1075=)
c.2781A= (p.Pro927=)
n.364A=

Number of alleles fetched