Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153955436T>ACA415126818HCFC1c.2963A>T (p.Glu988Val)
c.2765A>T (p.Glu922Val)
c.2054A>T (p.Glu685Val)
Xg.153955436T>CCA415126822HCFC1c.2963A>G (p.Glu988Gly)
c.2765A>G (p.Glu922Gly)
c.2054A>G (p.Glu685Gly)
Xg.153955436T>GCA415126820HCFC1c.2963A>C (p.Glu988Ala)
c.2765A>C (p.Glu922Ala)
c.2054A>C (p.Glu685Ala)
Xg.153955437C>ACA415126824HCFC1c.2962G>T (p.Glu988Ter)
c.2764G>T (p.Glu922Ter)
c.2053G>T (p.Glu685Ter)
Xg.153955437C>GCA415126825HCFC1c.2962G>C (p.Glu988Gln)
c.2764G>C (p.Glu922Gln)
c.2053G>C (p.Glu685Gln)
Xg.153955437C>TCA415126827HCFC1c.2962G>A (p.Glu988Lys)
c.2764G>A (p.Glu922Lys)
c.2053G>A (p.Glu685Lys)
Xg.153955438T>ACA519702787HCFC1c.2961A>T (p.Thr987=)
c.2763A>T (p.Thr921=)
c.2052A>T (p.Thr684=)
Xg.153955438T>CCA519702786HCFC1c.2961A>G (p.Thr987=)
c.2763A>G (p.Thr921=)
c.2052A>G (p.Thr684=)
Xg.153955438T>GCA519702785HCFC1c.2961A>C (p.Thr987=)
c.2763A>C (p.Thr921=)
c.2052A>C (p.Thr684=)
Xg.153955439G>ACA415126829HCFC1c.2960C>T (p.Thr987Ile)
c.2762C>T (p.Thr921Ile)
c.2051C>T (p.Thr684Ile)
Xg.153955439G>CCA415126831HCFC1c.2960C>G (p.Thr987Arg)
c.2762C>G (p.Thr921Arg)
c.2051C>G (p.Thr684Arg)
Xg.153955439G>TCA415126832HCFC1c.2960C>A (p.Thr987Lys)
c.2762C>A (p.Thr921Lys)
c.2051C>A (p.Thr684Lys)
Xg.153955440T>ACA415126835HCFC1c.2959A>T (p.Thr987Ser)
c.2761A>T (p.Thr921Ser)
c.2050A>T (p.Thr684Ser)
Xg.153955440T>CCA415126837HCFC1c.2959A>G (p.Thr987Ala)
c.2761A>G (p.Thr921Ala)
c.2050A>G (p.Thr684Ala)
 gnomAD v4
Xg.153955440T>GCA415126838HCFC1c.2959A>C (p.Thr987Pro)
c.2761A>C (p.Thr921Pro)
c.2050A>C (p.Thr684Pro)
Xg.153955441A>CCA519702788HCFC1c.2958T>G (p.Thr986=)
c.2760T>G (p.Thr920=)
c.2049T>G (p.Thr683=)
Xg.153955441A>GCA519702789HCFC1c.2958T>C (p.Thr986=)
c.2760T>C (p.Thr920=)
c.2049T>C (p.Thr683=)
Xg.153955441A>TCA519702790HCFC1c.2958T>A (p.Thr986=)
c.2760T>A (p.Thr920=)
c.2049T>A (p.Thr683=)
Xg.153955442G>ACA415126840HCFC1c.2957C>T (p.Thr986Ile)
c.2759C>T (p.Thr920Ile)
c.2048C>T (p.Thr683Ile)
 gnomAD v4
Xg.153955442G>CCA415126841HCFC1c.2957C>G (p.Thr986Ser)
c.2759C>G (p.Thr920Ser)
c.2048C>G (p.Thr683Ser)
Xg.153955442G>TCA415126842HCFC1c.2957C>A (p.Thr986Asn)
c.2759C>A (p.Thr920Asn)
c.2048C>A (p.Thr683Asn)
Xg.153955443T>ACA415126849HCFC1c.2956A>T (p.Thr986Ser)
c.2758A>T (p.Thr920Ser)
c.2047A>T (p.Thr683Ser)
Xg.153955443T>CCA415126847HCFC1c.2956A>G (p.Thr986Ala)
c.2758A>G (p.Thr920Ala)
c.2047A>G (p.Thr683Ala)
 gnomAD v4
Xg.153955443T>GCA415126845HCFC1c.2956A>C (p.Thr986Pro)
c.2758A>C (p.Thr920Pro)
c.2047A>C (p.Thr683Pro)
Xg.153955444C>ACA519702791HCFC1c.2955G>T (p.Pro985=)
c.2757G>T (p.Pro919=)
c.2046G>T (p.Pro682=)
Xg.153955444C=CA2466540523HCFC1c.2955G= (p.Pro985=)
c.2757G= (p.Pro919=)
c.2046G= (p.Pro682=)
Xg.153955444C>GCA519702792HCFC1c.2955G>C (p.Pro985=)
c.2757G>C (p.Pro919=)
c.2046G>C (p.Pro682=)
Xg.153955444C>TCA10557254HCFC1c.2955G>A (p.Pro985=)
c.2757G>A (p.Pro919=)
c.2046G>A (p.Pro682=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955445G>ACA415126853HCFC1c.2954C>T (p.Pro985Leu)
c.2756C>T (p.Pro919Leu)
c.2045C>T (p.Pro682Leu)
 COSMIC COSMIC
Xg.153955445G>CCA415126855HCFC1c.2954C>G (p.Pro985Arg)
c.2756C>G (p.Pro919Arg)
c.2045C>G (p.Pro682Arg)
 gnomAD v4
Xg.153955445G>TCA415126857HCFC1c.2954C>A (p.Pro985Gln)
c.2756C>A (p.Pro919Gln)
c.2045C>A (p.Pro682Gln)
Xg.153955446G>ACA415126859HCFC1c.2953C>T (p.Pro985Ser)
c.2755C>T (p.Pro919Ser)
c.2044C>T (p.Pro682Ser)
Xg.153955446G>CCA415126861HCFC1c.2953C>G (p.Pro985Ala)
c.2755C>G (p.Pro919Ala)
c.2044C>G (p.Pro682Ala)
Xg.153955446G>TCA415126862HCFC1c.2953C>A (p.Pro985Thr)
c.2755C>A (p.Pro919Thr)
c.2044C>A (p.Pro682Thr)
 COSMIC COSMIC
Xg.153955447G>ACA519702793HCFC1c.2952C>T (p.Ser984=)
c.2754C>T (p.Ser918=)
c.2043C>T (p.Ser681=)
 ClinVar gnomAD v4
Xg.153955447G>CCA519702794HCFC1c.2952C>G (p.Ser984=)
c.2754C>G (p.Ser918=)
c.2043C>G (p.Ser681=)
Xg.153955447G>TCA519702795HCFC1c.2952C>A (p.Ser984=)
c.2754C>A (p.Ser918=)
c.2043C>A (p.Ser681=)
Xg.153955448G>ACA415126865HCFC1c.2951C>T (p.Ser984Phe)
c.2753C>T (p.Ser918Phe)
c.2042C>T (p.Ser681Phe)
Xg.153955448G>CCA415126866HCFC1c.2951C>G (p.Ser984Cys)
c.2753C>G (p.Ser918Cys)
c.2042C>G (p.Ser681Cys)
Xg.153955448G>TCA415126867HCFC1c.2951C>A (p.Ser984Tyr)
c.2753C>A (p.Ser918Tyr)
c.2042C>A (p.Ser681Tyr)
Xg.153955449A>CCA415126870HCFC1c.2950T>G (p.Ser984Ala)
c.2752T>G (p.Ser918Ala)
c.2041T>G (p.Ser681Ala)
Xg.153955449A>GCA415126872HCFC1c.2950T>C (p.Ser984Pro)
c.2752T>C (p.Ser918Pro)
c.2041T>C (p.Ser681Pro)
Xg.153955449A>TCA415126873HCFC1c.2950T>A (p.Ser984Thr)
c.2752T>A (p.Ser918Thr)
c.2041T>A (p.Ser681Thr)
Xg.153955450G>ACA519702796HCFC1c.2949C>T (p.Ala983=)
c.2751C>T (p.Ala917=)
c.2040C>T (p.Ala680=)
Xg.153955450G>CCA519702797HCFC1c.2949C>G (p.Ala983=)
c.2751C>G (p.Ala917=)
c.2040C>G (p.Ala680=)
Xg.153955450G>TCA519702798HCFC1c.2949C>A (p.Ala983=)
c.2751C>A (p.Ala917=)
c.2040C>A (p.Ala680=)
Xg.153955451delCA2739239694HCFC1c.2949del (p.Ser984ProfsTer?)
c.2751del (p.Ser918ProfsTer?)
c.2040del (p.Ser681ProfsTer?)
 dbSNP
Xg.153955451G>ACA415126878HCFC1c.2948C>T (p.Ala983Val)
c.2750C>T (p.Ala917Val)
c.2039C>T (p.Ala680Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.153955451G>CCA415126879HCFC1c.2948C>G (p.Ala983Gly)
c.2750C>G (p.Ala917Gly)
c.2039C>G (p.Ala680Gly)
Xg.153955451G=CA2466540524HCFC1c.2948C= (p.Ala983=)
c.2750C= (p.Ala917=)
c.2039C= (p.Ala680=)
Xg.153955451G>TCA415126876HCFC1c.2948C>A (p.Ala983Asp)
c.2750C>A (p.Ala917Asp)
c.2039C>A (p.Ala680Asp)
Xg.153955452C>ACA415126882HCFC1c.2947G>T (p.Ala983Ser)
c.2749G>T (p.Ala917Ser)
c.2038G>T (p.Ala680Ser)
Xg.153955452C>GCA415126884HCFC1c.2947G>C (p.Ala983Pro)
c.2749G>C (p.Ala917Pro)
c.2038G>C (p.Ala680Pro)
Xg.153955452C>TCA415126885HCFC1c.2947G>A (p.Ala983Thr)
c.2749G>A (p.Ala917Thr)
c.2038G>A (p.Ala680Thr)
 gnomAD v4
Xg.153955453C>ACA519702799HCFC1c.2946G>T (p.Leu982=)
c.2748G>T (p.Leu916=)
c.2037G>T (p.Leu679=)
Xg.153955453C>GCA519702800HCFC1c.2946G>C (p.Leu982=)
c.2748G>C (p.Leu916=)
c.2037G>C (p.Leu679=)
Xg.153955453C>TCA519702801HCFC1c.2946G>A (p.Leu982=)
c.2748G>A (p.Leu916=)
c.2037G>A (p.Leu679=)
Xg.153955454A>CCA415126886HCFC1c.2945T>G (p.Leu982Arg)
c.2747T>G (p.Leu916Arg)
c.2036T>G (p.Leu679Arg)
Xg.153955454A>GCA415126888HCFC1c.2945T>C (p.Leu982Pro)
c.2747T>C (p.Leu916Pro)
c.2036T>C (p.Leu679Pro)
 ClinVar
Xg.153955454A>TCA415126890HCFC1c.2945T>A (p.Leu982Gln)
c.2747T>A (p.Leu916Gln)
c.2036T>A (p.Leu679Gln)
Xg.153955455G>ACA519702802HCFC1c.2944C>T (p.Leu982=)
c.2746C>T (p.Leu916=)
c.2035C>T (p.Leu679=)
 ClinVar gnomAD v4
Xg.153955455G>CCA415126891HCFC1c.2944C>G (p.Leu982Val)
c.2746C>G (p.Leu916Val)
c.2035C>G (p.Leu679Val)
 COSMIC COSMIC
Xg.153955455G>TCA415126893HCFC1c.2944C>A (p.Leu982Met)
c.2746C>A (p.Leu916Met)
c.2035C>A (p.Leu679Met)
Xg.153955456A>CCA415126894HCFC1c.2943T>G (p.Ile981Met)
c.2745T>G (p.Ile915Met)
c.2034T>G (p.Ile678Met)
Xg.153955456A>GCA519702803HCFC1c.2943T>C (p.Ile981=)
c.2745T>C (p.Ile915=)
c.2034T>C (p.Ile678=)
Xg.153955456A>TCA519702804HCFC1c.2943T>A (p.Ile981=)
c.2745T>A (p.Ile915=)
c.2034T>A (p.Ile678=)
Xg.153955457A>CCA415126896HCFC1c.2942T>G (p.Ile981Ser)
c.2744T>G (p.Ile915Ser)
c.2033T>G (p.Ile678Ser)
Xg.153955457A>GCA415126898HCFC1c.2942T>C (p.Ile981Thr)
c.2744T>C (p.Ile915Thr)
c.2033T>C (p.Ile678Thr)
 gnomAD v4
Xg.153955457A>TCA415126900HCFC1c.2942T>A (p.Ile981Asn)
c.2744T>A (p.Ile915Asn)
c.2033T>A (p.Ile678Asn)
Xg.153955458T>ACA415126902HCFC1c.2941A>T (p.Ile981Phe)
c.2743A>T (p.Ile915Phe)
c.2032A>T (p.Ile678Phe)
Xg.153955458T>CCA415126906HCFC1c.2941A>G (p.Ile981Val)
c.2743A>G (p.Ile915Val)
c.2032A>G (p.Ile678Val)
Xg.153955458T>GCA415126904HCFC1c.2941A>C (p.Ile981Leu)
c.2743A>C (p.Ile915Leu)
c.2032A>C (p.Ile678Leu)
Xg.153955459G>ACA519702805HCFC1c.2940C>T (p.Ser980=)
c.2742C>T (p.Ser914=)
c.2031C>T (p.Ser677=)
 dbSNP gnomAD v2 gnomAD v4
Xg.153955459G>CCA519702807HCFC1c.2940C>G (p.Ser980=)
c.2742C>G (p.Ser914=)
c.2031C>G (p.Ser677=)
 dbSNP gnomAD v2
Xg.153955459G=CA2466540525HCFC1c.2940C= (p.Ser980=)
c.2742C= (p.Ser914=)
c.2031C= (p.Ser677=)
Xg.153955459G>TCA519702806HCFC1c.2940C>A (p.Ser980=)
c.2742C>A (p.Ser914=)
c.2031C>A (p.Ser677=)
 gnomAD v4
Xg.153955460G>ACA415126909HCFC1c.2939C>T (p.Ser980Phe)
c.2741C>T (p.Ser914Phe)
c.2030C>T (p.Ser677Phe)
 COSMIC COSMIC
Xg.153955460G>CCA415126910HCFC1c.2939C>G (p.Ser980Cys)
c.2741C>G (p.Ser914Cys)
c.2030C>G (p.Ser677Cys)
Xg.153955460G>TCA415126911HCFC1c.2939C>A (p.Ser980Tyr)
c.2741C>A (p.Ser914Tyr)
c.2030C>A (p.Ser677Tyr)
Xg.153955461A>CCA415126914HCFC1c.2938T>G (p.Ser980Ala)
c.2740T>G (p.Ser914Ala)
c.2029T>G (p.Ser677Ala)
Xg.153955461A>GCA415126915HCFC1c.2938T>C (p.Ser980Pro)
c.2740T>C (p.Ser914Pro)
c.2029T>C (p.Ser677Pro)
Xg.153955461A>TCA415126917HCFC1c.2938T>A (p.Ser980Thr)
c.2740T>A (p.Ser914Thr)
c.2029T>A (p.Ser677Thr)
Xg.153955462C>ACA519702808HCFC1c.2937G>T (p.Val979=)
c.2739G>T (p.Val913=)
c.2028G>T (p.Val676=)
 gnomAD v4
Xg.153955462C>GCA519702809HCFC1c.2937G>C (p.Val979=)
c.2739G>C (p.Val913=)
c.2028G>C (p.Val676=)
Xg.153955462C>TCA519702810HCFC1c.2937G>A (p.Val979=)
c.2739G>A (p.Val913=)
c.2028G>A (p.Val676=)
 gnomAD v4
Xg.153955463A>CCA415126919HCFC1c.2936T>G (p.Val979Gly)
c.2738T>G (p.Val913Gly)
c.2027T>G (p.Val676Gly)
Xg.153955463A>GCA415126921HCFC1c.2936T>C (p.Val979Ala)
c.2738T>C (p.Val913Ala)
c.2027T>C (p.Val676Ala)
Xg.153955463A>TCA415126923HCFC1c.2936T>A (p.Val979Glu)
c.2738T>A (p.Val913Glu)
c.2027T>A (p.Val676Glu)
Xg.153955464C>ACA415126925HCFC1c.2935G>T (p.Val979Leu)
c.2737G>T (p.Val913Leu)
c.2026G>T (p.Val676Leu)
 gnomAD v4
Xg.153955464C>GCA415126929HCFC1c.2935G>C (p.Val979Leu)
c.2737G>C (p.Val913Leu)
c.2026G>C (p.Val676Leu)
Xg.153955464C>TCA415126927HCFC1c.2935G>A (p.Val979Met)
c.2737G>A (p.Val913Met)
c.2026G>A (p.Val676Met)
 gnomAD v4
Xg.153955465A>CCA519702811HCFC1c.2934T>G (p.Pro978=)
c.2736T>G (p.Pro912=)
c.2025T>G (p.Pro675=)
Xg.153955465A>GCA519702812HCFC1c.2934T>C (p.Pro978=)
c.2736T>C (p.Pro912=)
c.2025T>C (p.Pro675=)
Xg.153955465A>TCA519702813HCFC1c.2934T>A (p.Pro978=)
c.2736T>A (p.Pro912=)
c.2025T>A (p.Pro675=)
Xg.153955466G>ACA415126931HCFC1c.2933C>T (p.Pro978Leu)
c.2735C>T (p.Pro912Leu)
c.2024C>T (p.Pro675Leu)
Xg.153955466G>CCA415126935HCFC1c.2933C>G (p.Pro978Arg)
c.2735C>G (p.Pro912Arg)
c.2024C>G (p.Pro675Arg)
Xg.153955466G>TCA415126933HCFC1c.2933C>A (p.Pro978His)
c.2735C>A (p.Pro912His)
c.2024C>A (p.Pro675His)
Xg.153955467G>ACA415126937HCFC1c.2932C>T (p.Pro978Ser)
c.2734C>T (p.Pro912Ser)
c.2023C>T (p.Pro675Ser)
Xg.153955467G>CCA415126941HCFC1c.2932C>G (p.Pro978Ala)
c.2734C>G (p.Pro912Ala)
c.2023C>G (p.Pro675Ala)
Xg.153955467G>TCA415126939HCFC1c.2932C>A (p.Pro978Thr)
c.2734C>A (p.Pro912Thr)
c.2023C>A (p.Pro675Thr)
Xg.153955468G>ACA519702814HCFC1c.2931C>T (p.Leu977=)
c.2733C>T (p.Leu911=)
c.2022C>T (p.Leu674=)
 ClinVar gnomAD v4
Xg.153955468G>CCA519702815HCFC1c.2931C>G (p.Leu977=)
c.2733C>G (p.Leu911=)
c.2022C>G (p.Leu674=)
 gnomAD v4
Xg.153955468G>TCA519702816HCFC1c.2931C>A (p.Leu977=)
c.2733C>A (p.Leu911=)
c.2022C>A (p.Leu674=)
Xg.153955469A>CCA415126942HCFC1c.2930T>G (p.Leu977Arg)
c.2732T>G (p.Leu911Arg)
c.2021T>G (p.Leu674Arg)
Xg.153955469A>GCA415126944HCFC1c.2930T>C (p.Leu977Pro)
c.2732T>C (p.Leu911Pro)
c.2021T>C (p.Leu674Pro)
Xg.153955469A>TCA415126946HCFC1c.2930T>A (p.Leu977His)
c.2732T>A (p.Leu911His)
c.2021T>A (p.Leu674His)
Xg.153955470G>ACA415126949HCFC1c.2929C>T (p.Leu977Phe)
c.2731C>T (p.Leu911Phe)
c.2020C>T (p.Leu674Phe)
 gnomAD v4
Xg.153955470G>CCA415126951HCFC1c.2929C>G (p.Leu977Val)
c.2731C>G (p.Leu911Val)
c.2020C>G (p.Leu674Val)
Xg.153955470G>TCA415126952HCFC1c.2929C>A (p.Leu977Ile)
c.2731C>A (p.Leu911Ile)
c.2020C>A (p.Leu674Ile)
Xg.153955471G>ACA519702817HCFC1c.2928C>T (p.Asp976=)
c.2730C>T (p.Asp910=)
c.2019C>T (p.Asp673=)
 gnomAD v4
Xg.153955471G>CCA415126955HCFC1c.2928C>G (p.Asp976Glu)
c.2730C>G (p.Asp910Glu)
c.2019C>G (p.Asp673Glu)
 gnomAD v4
Xg.153955471G=CA2466540526HCFC1c.2928C= (p.Asp976=)
c.2730C= (p.Asp910=)
c.2019C= (p.Asp673=)
Xg.153955471G>TCA337254226HCFC1c.2928C>A (p.Asp976Glu)
c.2730C>A (p.Asp910Glu)
c.2019C>A (p.Asp673Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955472T>ACA415126958HCFC1c.2927A>T (p.Asp976Val)
c.2729A>T (p.Asp910Val)
c.2018A>T (p.Asp673Val)
Xg.153955472T>CCA415126960HCFC1c.2927A>G (p.Asp976Gly)
c.2729A>G (p.Asp910Gly)
c.2018A>G (p.Asp673Gly)
Xg.153955472T>GCA415126962HCFC1c.2927A>C (p.Asp976Ala)
c.2729A>C (p.Asp910Ala)
c.2018A>C (p.Asp673Ala)
Xg.153955473C>ACA415126964HCFC1c.2926G>T (p.Asp976Tyr)
c.2728G>T (p.Asp910Tyr)
c.2017G>T (p.Asp673Tyr)
Xg.153955473C>GCA415126968HCFC1c.2926G>C (p.Asp976His)
c.2728G>C (p.Asp910His)
c.2017G>C (p.Asp673His)
Xg.153955473C>TCA415126966HCFC1c.2926G>A (p.Asp976Asn)
c.2728G>A (p.Asp910Asn)
c.2017G>A (p.Asp673Asn)
Xg.153955474A>CCA415126969HCFC1c.2925T>G (p.His975Gln)
c.2727T>G (p.His909Gln)
c.2016T>G (p.His672Gln)
Xg.153955474A>GCA519702818HCFC1c.2925T>C (p.His975=)
c.2727T>C (p.His909=)
c.2016T>C (p.His672=)
Xg.153955474A>TCA415126971HCFC1c.2925T>A (p.His975Gln)
c.2727T>A (p.His909Gln)
c.2016T>A (p.His672Gln)
Xg.153955475T>ACA415126973HCFC1c.2924A>T (p.His975Leu)
c.2726A>T (p.His909Leu)
c.2015A>T (p.His672Leu)
Xg.153955475T>CCA415126976HCFC1c.2924A>G (p.His975Arg)
c.2726A>G (p.His909Arg)
c.2015A>G (p.His672Arg)
 dbSNP gnomAD v3 gnomAD v4
Xg.153955475T>GCA415126977HCFC1c.2924A>C (p.His975Pro)
c.2726A>C (p.His909Pro)
c.2015A>C (p.His672Pro)
Xg.153955475T=CA2466540527HCFC1c.2924A= (p.His975=)
c.2726A= (p.His909=)
c.2015A= (p.His672=)
Xg.153955476G>ACA415126980HCFC1c.2923C>T (p.His975Tyr)
c.2725C>T (p.His909Tyr)
c.2014C>T (p.His672Tyr)
 gnomAD v4
Xg.153955476G>CCA415126981HCFC1c.2923C>G (p.His975Asp)
c.2725C>G (p.His909Asp)
c.2014C>G (p.His672Asp)
Xg.153955476G>TCA415126982HCFC1c.2923C>A (p.His975Asn)
c.2725C>A (p.His909Asn)
c.2014C>A (p.His672Asn)
Xg.153955477C>ACA519702819HCFC1c.2922G>T (p.Val974=)
c.2724G>T (p.Val908=)
c.2013G>T (p.Val671=)
 gnomAD v4
Xg.153955477C>GCA519702820HCFC1c.2922G>C (p.Val974=)
c.2724G>C (p.Val908=)
c.2013G>C (p.Val671=)
Xg.153955477C>TCA519702821HCFC1c.2922G>A (p.Val974=)
c.2724G>A (p.Val908=)
c.2013G>A (p.Val671=)
 gnomAD v4
Xg.153955478A>CCA415126988HCFC1c.2921T>G (p.Val974Gly)
c.2723T>G (p.Val908Gly)
c.2012T>G (p.Val671Gly)
Xg.153955478A>GCA415126987HCFC1c.2921T>C (p.Val974Ala)
c.2723T>C (p.Val908Ala)
c.2012T>C (p.Val671Ala)
Xg.153955478A>TCA415126985HCFC1c.2921T>A (p.Val974Glu)
c.2723T>A (p.Val908Glu)
c.2012T>A (p.Val671Glu)
Xg.153955479C>ACA415126991HCFC1c.2920G>T (p.Val974Leu)
c.2722G>T (p.Val908Leu)
c.2011G>T (p.Val671Leu)
 gnomAD v4
Xg.153955479C=CA2466540528HCFC1c.2920G= (p.Val974=)
c.2722G= (p.Val908=)
c.2011G= (p.Val671=)
Xg.153955479C>GCA415126993HCFC1c.2920G>C (p.Val974Leu)
c.2722G>C (p.Val908Leu)
c.2011G>C (p.Val671Leu)
Xg.153955479C>TCA415126995HCFC1c.2920G>A (p.Val974Met)
c.2722G>A (p.Val908Met)
c.2011G>A (p.Val671Met)
 dbSNP
Xg.153955480A=CA2466540529HCFC1c.2919T= (p.Pro973=)
c.2721T= (p.Pro907=)
c.2010T= (p.Pro670=)
Xg.153955480A>CCA519702822HCFC1c.2919T>G (p.Pro973=)
c.2721T>G (p.Pro907=)
c.2010T>G (p.Pro670=)
Xg.153955480A>GCA10557255HCFC1c.2919T>C (p.Pro973=)
c.2721T>C (p.Pro907=)
c.2010T>C (p.Pro670=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955480A>TCA519702823HCFC1c.2919T>A (p.Pro973=)
c.2721T>A (p.Pro907=)
c.2010T>A (p.Pro670=)
Xg.153955481G>ACA415126998HCFC1c.2918C>T (p.Pro973Leu)
c.2720C>T (p.Pro907Leu)
c.2009C>T (p.Pro670Leu)
Xg.153955481G>CCA415126999HCFC1c.2918C>G (p.Pro973Arg)
c.2720C>G (p.Pro907Arg)
c.2009C>G (p.Pro670Arg)
Xg.153955481G>TCA415127001HCFC1c.2918C>A (p.Pro973His)
c.2720C>A (p.Pro907His)
c.2009C>A (p.Pro670His)
Xg.153955482G>ACA415127003HCFC1c.2917C>T (p.Pro973Ser)
c.2719C>T (p.Pro907Ser)
c.2008C>T (p.Pro670Ser)
 gnomAD v4
Xg.153955482G>CCA415127005HCFC1c.2917C>G (p.Pro973Ala)
c.2719C>G (p.Pro907Ala)
c.2008C>G (p.Pro670Ala)
 dbSNP
Xg.153955482G=CA2466540530HCFC1c.2917C= (p.Pro973=)
c.2719C= (p.Pro907=)
c.2008C= (p.Pro670=)
Xg.153955482G>TCA415127007HCFC1c.2917C>A (p.Pro973Thr)
c.2719C>A (p.Pro907Thr)
c.2008C>A (p.Pro670Thr)
Xg.153955483C>ACA415127009HCFC1c.2916G>T (p.Gln972His)
c.2718G>T (p.Gln906His)
c.2007G>T (p.Gln669His)
 gnomAD v4
Xg.153955483C=CA2466540531HCFC1c.2916G= (p.Gln972=)
c.2718G= (p.Gln906=)
c.2007G= (p.Gln669=)
Xg.153955483C>GCA415127014HCFC1c.2916G>C (p.Gln972His)
c.2718G>C (p.Gln906His)
c.2007G>C (p.Gln669His)
Xg.153955483C>TCA519702824HCFC1c.2916G>A (p.Gln972=)
c.2718G>A (p.Gln906=)
c.2007G>A (p.Gln669=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153955484T>ACA415127017HCFC1c.2915A>T (p.Gln972Leu)
c.2717A>T (p.Gln906Leu)
c.2006A>T (p.Gln669Leu)
Xg.153955484T>CCA415127020HCFC1c.2915A>G (p.Gln972Arg)
c.2717A>G (p.Gln906Arg)
c.2006A>G (p.Gln669Arg)
 gnomAD v4
Xg.153955484T>GCA415127019HCFC1c.2915A>C (p.Gln972Pro)
c.2717A>C (p.Gln906Pro)
c.2006A>C (p.Gln669Pro)
Xg.153955485G>ACA415127023HCFC1c.2914C>T (p.Gln972Ter)
c.2716C>T (p.Gln906Ter)
c.2005C>T (p.Gln669Ter)
Xg.153955485G>CCA415127025HCFC1c.2914C>G (p.Gln972Glu)
c.2716C>G (p.Gln906Glu)
c.2005C>G (p.Gln669Glu)
 dbSNP gnomAD v2
Xg.153955485G=CA2466540532HCFC1c.2914C= (p.Gln972=)
c.2716C= (p.Gln906=)
c.2005C= (p.Gln669=)
Xg.153955485G>TCA415127027HCFC1c.2914C>A (p.Gln972Lys)
c.2716C>A (p.Gln906Lys)
c.2005C>A (p.Gln669Lys)
Xg.153955486G>ACA519702825HCFC1c.2913C>T (p.Ala971=)
c.2715C>T (p.Ala905=)
c.2004C>T (p.Ala668=)
Xg.153955486G>CCA519702826HCFC1c.2913C>G (p.Ala971=)
c.2715C>G (p.Ala905=)
c.2004C>G (p.Ala668=)
Xg.153955486G>TCA519702827HCFC1c.2913C>A (p.Ala971=)
c.2715C>A (p.Ala905=)
c.2004C>A (p.Ala668=)
 gnomAD v4
Xg.153955487G>ACA415127030HCFC1c.2912C>T (p.Ala971Val)
c.2714C>T (p.Ala905Val)
c.2003C>T (p.Ala668Val)
Xg.153955487G>CCA415127031HCFC1c.2912C>G (p.Ala971Gly)
c.2714C>G (p.Ala905Gly)
c.2003C>G (p.Ala668Gly)
Xg.153955487G>TCA415127034HCFC1c.2912C>A (p.Ala971Asp)
c.2714C>A (p.Ala905Asp)
c.2003C>A (p.Ala668Asp)
Xg.153955488C>ACA415127035HCFC1c.2911G>T (p.Ala971Ser)
c.2713G>T (p.Ala905Ser)
c.2002G>T (p.Ala668Ser)
 gnomAD v4
Xg.153955488C>GCA415127037HCFC1c.2911G>C (p.Ala971Pro)
c.2713G>C (p.Ala905Pro)
c.2002G>C (p.Ala668Pro)
Xg.153955488C>TCA415127039HCFC1c.2911G>A (p.Ala971Thr)
c.2713G>A (p.Ala905Thr)
c.2002G>A (p.Ala668Thr)
Xg.153955489C>ACA415127043HCFC1c.2910G>T (p.Glu970Asp)
c.2712G>T (p.Glu904Asp)
c.2001G>T (p.Glu667Asp)
 gnomAD v4
Xg.153955489C>GCA415127041HCFC1c.2910G>C (p.Glu970Asp)
c.2712G>C (p.Glu904Asp)
c.2001G>C (p.Glu667Asp)
Xg.153955489C>TCA519702828HCFC1c.2910G>A (p.Glu970=)
c.2712G>A (p.Glu904=)
c.2001G>A (p.Glu667=)
Xg.153955490T>ACA415127046HCFC1c.2909A>T (p.Glu970Val)
c.2711A>T (p.Glu904Val)
c.2000A>T (p.Glu667Val)
Xg.153955490T>CCA415127049HCFC1c.2909A>G (p.Glu970Gly)
c.2711A>G (p.Glu904Gly)
c.2000A>G (p.Glu667Gly)
 gnomAD v4
Xg.153955490T>GCA415127047HCFC1c.2909A>C (p.Glu970Ala)
c.2711A>C (p.Glu904Ala)
c.2000A>C (p.Glu667Ala)
Xg.153955491C>ACA415127051HCFC1c.2908G>T (p.Glu970Ter)
c.2710G>T (p.Glu904Ter)
c.1999G>T (p.Glu667Ter)
 gnomAD v4
Xg.153955491C>GCA415127053HCFC1c.2908G>C (p.Glu970Gln)
c.2710G>C (p.Glu904Gln)
c.1999G>C (p.Glu667Gln)
Xg.153955491C>TCA415127055HCFC1c.2908G>A (p.Glu970Lys)
c.2710G>A (p.Glu904Lys)
c.1999G>A (p.Glu667Lys)
Xg.153955492C>ACA519702829HCFC1c.2907G>T (p.Val969=)
c.2709G>T (p.Val903=)
c.1998G>T (p.Val666=)
Xg.153955492C>GCA519702830HCFC1c.2907G>C (p.Val969=)
c.2709G>C (p.Val903=)
c.1998G>C (p.Val666=)
Xg.153955492C>TCA519702831HCFC1c.2907G>A (p.Val969=)
c.2709G>A (p.Val903=)
c.1998G>A (p.Val666=)
Xg.153955493A=CA2466540533HCFC1c.2906T= (p.Val969=)
c.2708T= (p.Val903=)
c.1997T= (p.Val666=)
Xg.153955493A>CCA415127057HCFC1c.2906T>G (p.Val969Gly)
c.2708T>G (p.Val903Gly)
c.1997T>G (p.Val666Gly)
Xg.153955493A>GCA415127059HCFC1c.2906T>C (p.Val969Ala)
c.2708T>C (p.Val903Ala)
c.1997T>C (p.Val666Ala)
 dbSNP gnomAD v4
Xg.153955493A>TCA415127061HCFC1c.2906T>A (p.Val969Glu)
c.2708T>A (p.Val903Glu)
c.1997T>A (p.Val666Glu)
Xg.153955494C>ACA415127063HCFC1c.2905G>T (p.Val969Leu)
c.2707G>T (p.Val903Leu)
c.1996G>T (p.Val666Leu)
Xg.153955494C>GCA415127065HCFC1c.2905G>C (p.Val969Leu)
c.2707G>C (p.Val903Leu)
c.1996G>C (p.Val666Leu)
Xg.153955494C>TCA415127067HCFC1c.2905G>A (p.Val969Met)
c.2707G>A (p.Val903Met)
c.1996G>A (p.Val666Met)
 gnomAD v4 COSMIC COSMIC
Xg.153955495C>ACA519702832HCFC1c.2904G>T (p.Gly968=)
c.2706G>T (p.Gly902=)
c.1995G>T (p.Gly665=)
Xg.153955495C>GCA519702833HCFC1c.2904G>C (p.Gly968=)
c.2706G>C (p.Gly902=)
c.1995G>C (p.Gly665=)
Xg.153955495C>TCA519702834HCFC1c.2904G>A (p.Gly968=)
c.2706G>A (p.Gly902=)
c.1995G>A (p.Gly665=)
 gnomAD v4
Xg.153955496C>ACA415127069HCFC1c.2903G>T (p.Gly968Val)
c.2705G>T (p.Gly902Val)
c.1994G>T (p.Gly665Val)
 dbSNP
Xg.153955496C=CA2466540534HCFC1c.2903G= (p.Gly968=)
c.2705G= (p.Gly902=)
c.1994G= (p.Gly665=)
Xg.153955496C>GCA415127071HCFC1c.2903G>C (p.Gly968Ala)
c.2705G>C (p.Gly902Ala)
c.1994G>C (p.Gly665Ala)
Xg.153955496C>TCA415127073HCFC1c.2903G>A (p.Gly968Glu)
c.2705G>A (p.Gly902Glu)
c.1994G>A (p.Gly665Glu)
 gnomAD v4
Xg.153955497C>ACA415127074HCFC1c.2902G>T (p.Gly968Trp)
c.2704G>T (p.Gly902Trp)
c.1993G>T (p.Gly665Trp)
 gnomAD v4
Xg.153955497C>GCA415127076HCFC1c.2902G>C (p.Gly968Arg)
c.2704G>C (p.Gly902Arg)
c.1993G>C (p.Gly665Arg)
 gnomAD v4
Xg.153955497C>TCA415127075HCFC1c.2902G>A (p.Gly968Arg)
c.2704G>A (p.Gly902Arg)
c.1993G>A (p.Gly665Arg)
Xg.153955498A=CA2466540535HCFC1c.2901T= (p.Ser967=)
c.2703T= (p.Ser901=)
c.1992T= (p.Ser664=)
Xg.153955498A>CCA415127079HCFC1c.2901T>G (p.Ser967Arg)
c.2703T>G (p.Ser901Arg)
c.1992T>G (p.Ser664Arg)
Xg.153955498A>GCA10557256HCFC1c.2901T>C (p.Ser967=)
c.2703T>C (p.Ser901=)
c.1992T>C (p.Ser664=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955498A>TCA415127083HCFC1c.2901T>A (p.Ser967Arg)
c.2703T>A (p.Ser901Arg)
c.1992T>A (p.Ser664Arg)
Xg.153955499C>ACA415127085HCFC1c.2900G>T (p.Ser967Ile)
c.2702G>T (p.Ser901Ile)
c.1991G>T (p.Ser664Ile)
Xg.153955499C>GCA415127087HCFC1c.2900G>C (p.Ser967Thr)
c.2702G>C (p.Ser901Thr)
c.1991G>C (p.Ser664Thr)
 gnomAD v4
Xg.153955499C>TCA415127089HCFC1c.2900G>A (p.Ser967Asn)
c.2702G>A (p.Ser901Asn)
c.1991G>A (p.Ser664Asn)
 COSMIC COSMIC
Xg.153955500T>ACA415127091HCFC1c.2899A>T (p.Ser967Cys)
c.2701A>T (p.Ser901Cys)
c.1990A>T (p.Ser664Cys)
 gnomAD v4
Xg.153955500T>CCA415127092HCFC1c.2899A>G (p.Ser967Gly)
c.2701A>G (p.Ser901Gly)
c.1990A>G (p.Ser664Gly)
 gnomAD v4
Xg.153955500T>GCA415127093HCFC1c.2899A>C (p.Ser967Arg)
c.2701A>C (p.Ser901Arg)
c.1990A>C (p.Ser664Arg)
Xg.153955501A>CCA519702835HCFC1c.2898T>G (p.Pro966=)
c.2700T>G (p.Pro900=)
c.1989T>G (p.Pro663=)
Xg.153955501A>GCA519702836HCFC1c.2898T>C (p.Pro966=)
c.2700T>C (p.Pro900=)
c.1989T>C (p.Pro663=)
 ClinVar
Xg.153955501A>TCA519702837HCFC1c.2898T>A (p.Pro966=)
c.2700T>A (p.Pro900=)
c.1989T>A (p.Pro663=)
Xg.153955502G>ACA415127096HCFC1c.2897C>T (p.Pro966Leu)
c.2699C>T (p.Pro900Leu)
c.1988C>T (p.Pro663Leu)
Xg.153955502G>CCA415127095HCFC1c.2897C>G (p.Pro966Arg)
c.2699C>G (p.Pro900Arg)
c.1988C>G (p.Pro663Arg)
Xg.153955502G>TCA415127094HCFC1c.2897C>A (p.Pro966His)
c.2699C>A (p.Pro900His)
c.1988C>A (p.Pro663His)
Xg.153955503G>ACA415127097HCFC1c.2896C>T (p.Pro966Ser)
c.2698C>T (p.Pro900Ser)
c.1987C>T (p.Pro663Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.153955503G>CCA415127098HCFC1c.2896C>G (p.Pro966Ala)
c.2698C>G (p.Pro900Ala)
c.1987C>G (p.Pro663Ala)
 gnomAD v4
Xg.153955503G=CA2466540536HCFC1c.2896C= (p.Pro966=)
c.2698C= (p.Pro900=)
c.1987C= (p.Pro663=)
Xg.153955503G>TCA415127099HCFC1c.2896C>A (p.Pro966Thr)
c.2698C>A (p.Pro900Thr)
c.1987C>A (p.Pro663Thr)
Xg.153955504T>ACA519702838HCFC1c.2895A>T (p.Ala965=)
c.2697A>T (p.Ala899=)
c.1986A>T (p.Ala662=)
Xg.153955504T>CCA519702839HCFC1c.2895A>G (p.Ala965=)
c.2697A>G (p.Ala899=)
c.1986A>G (p.Ala662=)
Xg.153955504T>GCA519702840HCFC1c.2895A>C (p.Ala965=)
c.2697A>C (p.Ala899=)
c.1986A>C (p.Ala662=)
Xg.153955505G>ACA415127100HCFC1c.2894C>T (p.Ala965Val)
c.2696C>T (p.Ala899Val)
c.1985C>T (p.Ala662Val)
Xg.153955505G>CCA415127101HCFC1c.2894C>G (p.Ala965Gly)
c.2696C>G (p.Ala899Gly)
c.1985C>G (p.Ala662Gly)
Xg.153955505G>TCA415127102HCFC1c.2894C>A (p.Ala965Glu)
c.2696C>A (p.Ala899Glu)
c.1985C>A (p.Ala662Glu)
 gnomAD v4
Xg.153955506C>ACA415127103HCFC1c.2893G>T (p.Ala965Ser)
c.2695G>T (p.Ala899Ser)
c.1984G>T (p.Ala662Ser)
Xg.153955506C=CA2466540537HCFC1c.2893G= (p.Ala965=)
c.2695G= (p.Ala899=)
c.1984G= (p.Ala662=)
Xg.153955506C>GCA415127104HCFC1c.2893G>C (p.Ala965Pro)
c.2695G>C (p.Ala899Pro)
c.1984G>C (p.Ala662Pro)
Xg.153955506C>TCA415127105HCFC1c.2893G>A (p.Ala965Thr)
c.2695G>A (p.Ala899Thr)
c.1984G>A (p.Ala662Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.153955507C>ACA519702841HCFC1c.2892G>T (p.Thr964=)
c.2694G>T (p.Thr898=)
c.1983G>T (p.Thr661=)
Xg.153955507C=CA2466540538HCFC1c.2892G= (p.Thr964=)
c.2694G= (p.Thr898=)
c.1983G= (p.Thr661=)
Xg.153955507C>GCA10557257HCFC1c.2892G>C (p.Thr964=)
c.2694G>C (p.Thr898=)
c.1983G>C (p.Thr661=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153955507C>TCA10557258HCFC1c.2892G>A (p.Thr964=)
c.2694G>A (p.Thr898=)
c.1983G>A (p.Thr661=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955508G>ACA415127113HCFC1c.2891C>T (p.Thr964Met)
c.2693C>T (p.Thr898Met)
c.1982C>T (p.Thr661Met)
Xg.153955508G>CCA415127111HCFC1c.2891C>G (p.Thr964Arg)
c.2693C>G (p.Thr898Arg)
c.1982C>G (p.Thr661Arg)
Xg.153955508G>TCA415127109HCFC1c.2891C>A (p.Thr964Lys)
c.2693C>A (p.Thr898Lys)
c.1982C>A (p.Thr661Lys)
Xg.153955509T>ACA415127115HCFC1c.2890A>T (p.Thr964Ser)
c.2692A>T (p.Thr898Ser)
c.1981A>T (p.Thr661Ser)
Xg.153955509T>CCA415127117HCFC1c.2890A>G (p.Thr964Ala)
c.2692A>G (p.Thr898Ala)
c.1981A>G (p.Thr661Ala)
Xg.153955509T>GCA415127119HCFC1c.2890A>C (p.Thr964Pro)
c.2692A>C (p.Thr898Pro)
c.1981A>C (p.Thr661Pro)
Xg.153955510G>ACA519702842HCFC1c.2889C>T (p.Ile963=)
c.2691C>T (p.Ile897=)
c.1980C>T (p.Ile660=)
Xg.153955510G>CCA415127121HCFC1c.2889C>G (p.Ile963Met)
c.2691C>G (p.Ile897Met)
c.1980C>G (p.Ile660Met)
Xg.153955510G>TCA519702843HCFC1c.2889C>A (p.Ile963=)
c.2691C>A (p.Ile897=)
c.1980C>A (p.Ile660=)
Xg.153955511A>CCA415127123HCFC1c.2888T>G (p.Ile963Ser)
c.2690T>G (p.Ile897Ser)
c.1979T>G (p.Ile660Ser)
Xg.153955511A>GCA415127125HCFC1c.2888T>C (p.Ile963Thr)
c.2690T>C (p.Ile897Thr)
c.1979T>C (p.Ile660Thr)
Xg.153955511A>TCA415127127HCFC1c.2888T>A (p.Ile963Asn)
c.2690T>A (p.Ile897Asn)
c.1979T>A (p.Ile660Asn)
Xg.153955512T>ACA415127128HCFC1c.2887A>T (p.Ile963Phe)
c.2689A>T (p.Ile897Phe)
c.1978A>T (p.Ile660Phe)
Xg.153955512T>CCA415127130HCFC1c.2887A>G (p.Ile963Val)
c.2689A>G (p.Ile897Val)
c.1978A>G (p.Ile660Val)
Xg.153955512T>GCA415127132HCFC1c.2887A>C (p.Ile963Leu)
c.2689A>C (p.Ile897Leu)
c.1978A>C (p.Ile660Leu)
Xg.153955513C>ACA10557259HCFC1c.2886G>T (p.Leu962=)
c.2688G>T (p.Leu896=)
c.1977G>T (p.Leu659=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153955513C=CA2466540539HCFC1c.2886G= (p.Leu962=)
c.2688G= (p.Leu896=)
c.1977G= (p.Leu659=)
Xg.153955513C>GCA519702844HCFC1c.2886G>C (p.Leu962=)
c.2688G>C (p.Leu896=)
c.1977G>C (p.Leu659=)
Xg.153955513C>TCA153070HCFC1c.2886G>A (p.Leu962=)
c.2688G>A (p.Leu896=)
c.1977G>A (p.Leu659=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955514A>CCA415127139HCFC1c.2885T>G (p.Leu962Arg)
c.2687T>G (p.Leu896Arg)
c.1976T>G (p.Leu659Arg)
Xg.153955514A>GCA415127141HCFC1c.2885T>C (p.Leu962Pro)
c.2687T>C (p.Leu896Pro)
c.1976T>C (p.Leu659Pro)
Xg.153955514A>TCA415127136HCFC1c.2885T>A (p.Leu962Gln)
c.2687T>A (p.Leu896Gln)
c.1976T>A (p.Leu659Gln)
Xg.153955515G>ACA519702845HCFC1c.2884C>T (p.Leu962=)
c.2686C>T (p.Leu896=)
c.1975C>T (p.Leu659=)
 gnomAD v4
Xg.153955515G>CCA10557260HCFC1c.2884C>G (p.Leu962Val)
c.2686C>G (p.Leu896Val)
c.1975C>G (p.Leu659Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153955515G=CA2466540540HCFC1c.2884C= (p.Leu962=)
c.2686C= (p.Leu896=)
c.1975C= (p.Leu659=)
Xg.153955515G>TCA415127143HCFC1c.2884C>A (p.Leu962Met)
c.2686C>A (p.Leu896Met)
c.1975C>A (p.Leu659Met)
Xg.153955516A=CA2466540541HCFC1c.2883T= (p.Thr961=)
c.2685T= (p.Thr895=)
c.1974T= (p.Thr658=)
Xg.153955516A>CCA519702846HCFC1c.2883T>G (p.Thr961=)
c.2685T>G (p.Thr895=)
c.1974T>G (p.Thr658=)
 dbSNP
Xg.153955516A>GCA519702847HCFC1c.2883T>C (p.Thr961=)
c.2685T>C (p.Thr895=)
c.1974T>C (p.Thr658=)
Xg.153955516A>TCA519702848HCFC1c.2883T>A (p.Thr961=)
c.2685T>A (p.Thr895=)
c.1974T>A (p.Thr658=)
Xg.153955517G>ACA415127149HCFC1c.2882C>T (p.Thr961Ile)
c.2684C>T (p.Thr895Ile)
c.1973C>T (p.Thr658Ile)
Xg.153955517G>CCA415127147HCFC1c.2882C>G (p.Thr961Ser)
c.2684C>G (p.Thr895Ser)
c.1973C>G (p.Thr658Ser)
Xg.153955517G>TCA415127151HCFC1c.2882C>A (p.Thr961Asn)
c.2684C>A (p.Thr895Asn)
c.1973C>A (p.Thr658Asn)
Xg.153955518T>ACA415127153HCFC1c.2881A>T (p.Thr961Ser)
c.2683A>T (p.Thr895Ser)
c.1972A>T (p.Thr658Ser)
Xg.153955518T>CCA415127155HCFC1c.2881A>G (p.Thr961Ala)
c.2683A>G (p.Thr895Ala)
c.1972A>G (p.Thr658Ala)
 gnomAD v4
Xg.153955518T>GCA415127156HCFC1c.2881A>C (p.Thr961Pro)
c.2683A>C (p.Thr895Pro)
c.1972A>C (p.Thr658Pro)
Xg.153955519delCA2695089184HCFC1c.2881del (p.Thr961LeufsTer2)
c.2683del (p.Thr895LeufsTer2)
c.1972del (p.Thr658LeufsTer2)
 gnomAD v4
Xg.153955519T>ACA519702849HCFC1c.2880A>T (p.Val960=)
c.2682A>T (p.Val894=)
c.1971A>T (p.Val657=)
Xg.153955519T>CCA519702850HCFC1c.2880A>G (p.Val960=)
c.2682A>G (p.Val894=)
c.1971A>G (p.Val657=)
Xg.153955519T>GCA519702851HCFC1c.2880A>C (p.Val960=)
c.2682A>C (p.Val894=)
c.1971A>C (p.Val657=)
Xg.153955520A>CCA415127159HCFC1c.2879T>G (p.Val960Gly)
c.2681T>G (p.Val894Gly)
c.1970T>G (p.Val657Gly)
Xg.153955520A>GCA415127161HCFC1c.2879T>C (p.Val960Ala)
c.2681T>C (p.Val894Ala)
c.1970T>C (p.Val657Ala)
Xg.153955520A>TCA415127163HCFC1c.2879T>A (p.Val960Glu)
c.2681T>A (p.Val894Glu)
c.1970T>A (p.Val657Glu)
Xg.153955521C>ACA415127165HCFC1c.2878G>T (p.Val960Leu)
c.2680G>T (p.Val894Leu)
c.1969G>T (p.Val657Leu)
 gnomAD v4
Xg.153955521C>GCA415127167HCFC1c.2878G>C (p.Val960Leu)
c.2680G>C (p.Val894Leu)
c.1969G>C (p.Val657Leu)
Xg.153955521C>TCA415127169HCFC1c.2878G>A (p.Val960Ile)
c.2680G>A (p.Val894Ile)
c.1969G>A (p.Val657Ile)
Xg.153955522C>ACA415127171HCFC1c.2877G>T (p.Gln959His)
c.2679G>T (p.Gln893His)
c.1968G>T (p.Gln656His)
Xg.153955522C=CA2466540542HCFC1c.2877G= (p.Gln959=)
c.2679G= (p.Gln893=)
c.1968G= (p.Gln656=)
Xg.153955522C>GCA415127173HCFC1c.2877G>C (p.Gln959His)
c.2679G>C (p.Gln893His)
c.1968G>C (p.Gln656His)
 dbSNP gnomAD v3 gnomAD v4
Xg.153955522C>TCA519702852HCFC1c.2877G>A (p.Gln959=)
c.2679G>A (p.Gln893=)
c.1968G>A (p.Gln656=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153955523T>ACA415127175HCFC1c.2876A>T (p.Gln959Leu)
c.2678A>T (p.Gln893Leu)
c.1967A>T (p.Gln656Leu)
Xg.153955523T>CCA415127178HCFC1c.2876A>G (p.Gln959Arg)
c.2678A>G (p.Gln893Arg)
c.1967A>G (p.Gln656Arg)
Xg.153955523T>GCA415127176HCFC1c.2876A>C (p.Gln959Pro)
c.2678A>C (p.Gln893Pro)
c.1967A>C (p.Gln656Pro)
Xg.153955524G>ACA415127180HCFC1c.2875C>T (p.Gln959Ter)
c.2677C>T (p.Gln893Ter)
c.1966C>T (p.Gln656Ter)
Xg.153955524G>CCA415127184HCFC1c.2875C>G (p.Gln959Glu)
c.2677C>G (p.Gln893Glu)
c.1966C>G (p.Gln656Glu)
Xg.153955524G>TCA415127186HCFC1c.2875C>A (p.Gln959Lys)
c.2677C>A (p.Gln893Lys)
c.1966C>A (p.Gln656Lys)
Xg.153955526delCA2695089208HCFC1c.2875del (p.Gln959ArgfsTer2)
c.2677del (p.Gln893ArgfsTer2)
c.1966del (p.Gln656ArgfsTer2)
 gnomAD v4
Xg.153955525G>ACA519702853HCFC1c.2874C>T (p.Thr958=)
c.2676C>T (p.Thr892=)
c.1965C>T (p.Thr655=)
Xg.153955525G>CCA519702854HCFC1c.2874C>G (p.Thr958=)
c.2676C>G (p.Thr892=)
c.1965C>G (p.Thr655=)
Xg.153955525G>TCA519702855HCFC1c.2874C>A (p.Thr958=)
c.2676C>A (p.Thr892=)
c.1965C>A (p.Thr655=)
 gnomAD v4
Xg.153955526G>ACA415127189HCFC1c.2873C>T (p.Thr958Ile)
c.2675C>T (p.Thr892Ile)
c.1964C>T (p.Thr655Ile)
Xg.153955526G>CCA415127190HCFC1c.2873C>G (p.Thr958Ser)
c.2675C>G (p.Thr892Ser)
c.1964C>G (p.Thr655Ser)
Xg.153955526G>TCA415127193HCFC1c.2873C>A (p.Thr958Asn)
c.2675C>A (p.Thr892Asn)
c.1964C>A (p.Thr655Asn)
 gnomAD v4
Xg.153955527T>ACA415127195HCFC1c.2872A>T (p.Thr958Ser)
c.2674A>T (p.Thr892Ser)
c.1963A>T (p.Thr655Ser)
Xg.153955527T>CCA206595HCFC1c.2872A>G (p.Thr958Ala)
c.2674A>G (p.Thr892Ala)
c.1963A>G (p.Thr655Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955527T>GCA415127198HCFC1c.2872A>C (p.Thr958Pro)
c.2674A>C (p.Thr892Pro)
c.1963A>C (p.Thr655Pro)
 dbSNP
Xg.153955527T=CA2466540543HCFC1c.2872A= (p.Thr958=)
c.2674A= (p.Thr892=)
c.1963A= (p.Thr655=)
Xg.153955528G>ACA519702856HCFC1c.2871C>T (p.Pro957=)
c.2673C>T (p.Pro891=)
c.1962C>T (p.Pro654=)
 gnomAD v4
Xg.153955528G>CCA519702857HCFC1c.2871C>G (p.Pro957=)
c.2673C>G (p.Pro891=)
c.1962C>G (p.Pro654=)
Xg.153955528G>TCA519702858HCFC1c.2871C>A (p.Pro957=)
c.2673C>A (p.Pro891=)
c.1962C>A (p.Pro654=)
Xg.153955529G>ACA415127200HCFC1c.2870C>T (p.Pro957Leu)
c.2672C>T (p.Pro891Leu)
c.1961C>T (p.Pro654Leu)
Xg.153955529G>CCA415127202HCFC1c.2870C>G (p.Pro957Arg)
c.2672C>G (p.Pro891Arg)
c.1961C>G (p.Pro654Arg)
Xg.153955529G>TCA415127199HCFC1c.2870C>A (p.Pro957His)
c.2672C>A (p.Pro891His)
c.1961C>A (p.Pro654His)
Xg.153955530G>ACA415127204HCFC1c.2869C>T (p.Pro957Ser)
c.2671C>T (p.Pro891Ser)
c.1960C>T (p.Pro654Ser)
 gnomAD v4
Xg.153955530G>CCA415127206HCFC1c.2869C>G (p.Pro957Ala)
c.2671C>G (p.Pro891Ala)
c.1960C>G (p.Pro654Ala)
Xg.153955530G>TCA415127207HCFC1c.2869C>A (p.Pro957Thr)
c.2671C>A (p.Pro891Thr)
c.1960C>A (p.Pro654Thr)
Xg.153955531C>ACA415127209HCFC1c.2868G>T (p.Gln956His)
c.2670G>T (p.Gln890His)
c.1959G>T (p.Gln653His)
Xg.153955531C>GCA415127211HCFC1c.2868G>C (p.Gln956His)
c.2670G>C (p.Gln890His)
c.1959G>C (p.Gln653His)
Xg.153955531C>TCA519702859HCFC1c.2868G>A (p.Gln956=)
c.2670G>A (p.Gln890=)
c.1959G>A (p.Gln653=)
 gnomAD v4
Xg.153955532T>ACA415127213HCFC1c.2867A>T (p.Gln956Leu)
c.2669A>T (p.Gln890Leu)
c.1958A>T (p.Gln653Leu)
Xg.153955532T>CCA415127214HCFC1c.2867A>G (p.Gln956Arg)
c.2669A>G (p.Gln890Arg)
c.1958A>G (p.Gln653Arg)
Xg.153955532T>GCA415127217HCFC1c.2867A>C (p.Gln956Pro)
c.2669A>C (p.Gln890Pro)
c.1958A>C (p.Gln653Pro)
 dbSNP
Xg.153955533G>ACA415127219HCFC1c.2866C>T (p.Gln956Ter)
c.2668C>T (p.Gln890Ter)
c.1957C>T (p.Gln653Ter)
Xg.153955533G>CCA415127221HCFC1c.2866C>G (p.Gln956Glu)
c.2668C>G (p.Gln890Glu)
c.1957C>G (p.Gln653Glu)
Xg.153955533G>TCA415127223HCFC1c.2866C>A (p.Gln956Lys)
c.2668C>A (p.Gln890Lys)
c.1957C>A (p.Gln653Lys)
 gnomAD v4
Xg.153955535delCA2579735271HCFC1c.2866del (p.Gln956SerfsTer5)
c.2668del (p.Gln890SerfsTer5)
c.1957del (p.Gln653SerfsTer5)
Xg.153955534G>ACA519702860HCFC1c.2865C>T (p.Ser955=)
c.2667C>T (p.Ser889=)
c.1956C>T (p.Ser652=)
 gnomAD v4
Xg.153955534G>CCA519702861HCFC1c.2865C>G (p.Ser955=)
c.2667C>G (p.Ser889=)
c.1956C>G (p.Ser652=)
Xg.153955534G>TCA519702862HCFC1c.2865C>A (p.Ser955=)
c.2667C>A (p.Ser889=)
c.1956C>A (p.Ser652=)
Xg.153955535G>ACA415127228HCFC1c.2864C>T (p.Ser955Phe)
c.2666C>T (p.Ser889Phe)
c.1955C>T (p.Ser652Phe)
Xg.153955535G>CCA415127226HCFC1c.2864C>G (p.Ser955Cys)
c.2666C>G (p.Ser889Cys)
c.1955C>G (p.Ser652Cys)
Xg.153955535G>TCA415127224HCFC1c.2864C>A (p.Ser955Tyr)
c.2666C>A (p.Ser889Tyr)
c.1955C>A (p.Ser652Tyr)
Xg.153955536A=CA2466540544HCFC1c.2863T= (p.Ser955=)
c.2665T= (p.Ser889=)
c.1954T= (p.Ser652=)
Xg.153955536A>CCA415127230HCFC1c.2863T>G (p.Ser955Ala)
c.2665T>G (p.Ser889Ala)
c.1954T>G (p.Ser652Ala)
Xg.153955536A>GCA415127232HCFC1c.2863T>C (p.Ser955Pro)
c.2665T>C (p.Ser889Pro)
c.1954T>C (p.Ser652Pro)
Xg.153955536A>TCA415127234HCFC1c.2863T>A (p.Ser955Thr)
c.2665T>A (p.Ser889Thr)
c.1954T>A (p.Ser652Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched