Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153955230C>ACA415125778HCFC1c.3169G>T (p.Ala1057Ser)
c.2971G>T (p.Ala991Ser)
c.2260G>T (p.Ala754Ser)
 gnomAD v4
Xg.153955230C>GCA415125782HCFC1c.3169G>C (p.Ala1057Pro)
c.2971G>C (p.Ala991Pro)
c.2260G>C (p.Ala754Pro)
Xg.153955230C>TCA415125779HCFC1c.3169G>A (p.Ala1057Thr)
c.2971G>A (p.Ala991Thr)
c.2260G>A (p.Ala754Thr)
Xg.153955231A=CA2466540471HCFC1c.3168T= (p.Ala1056=)
c.2970T= (p.Ala990=)
c.2259T= (p.Ala753=)
Xg.153955231A>CCA519702603HCFC1c.3168T>G (p.Ala1056=)
c.2970T>G (p.Ala990=)
c.2259T>G (p.Ala753=)
Xg.153955231A>GCA519702604HCFC1c.3168T>C (p.Ala1056=)
c.2970T>C (p.Ala990=)
c.2259T>C (p.Ala753=)
 dbSNP gnomAD v2 gnomAD v4
Xg.153955231A>TCA519702605HCFC1c.3168T>A (p.Ala1056=)
c.2970T>A (p.Ala990=)
c.2259T>A (p.Ala753=)
Xg.153955232G>ACA415125786HCFC1c.3167C>T (p.Ala1056Val)
c.2969C>T (p.Ala990Val)
c.2258C>T (p.Ala753Val)
Xg.153955232G>CCA415125788HCFC1c.3167C>G (p.Ala1056Gly)
c.2969C>G (p.Ala990Gly)
c.2258C>G (p.Ala753Gly)
Xg.153955232G>TCA415125789HCFC1c.3167C>A (p.Ala1056Asp)
c.2969C>A (p.Ala990Asp)
c.2258C>A (p.Ala753Asp)
Xg.153955233C>ACA415125792HCFC1c.3166G>T (p.Ala1056Ser)
c.2968G>T (p.Ala990Ser)
c.2257G>T (p.Ala753Ser)
Xg.153955233C>GCA415125794HCFC1c.3166G>C (p.Ala1056Pro)
c.2968G>C (p.Ala990Pro)
c.2257G>C (p.Ala753Pro)
Xg.153955233C>TCA415125796HCFC1c.3166G>A (p.Ala1056Thr)
c.2968G>A (p.Ala990Thr)
c.2257G>A (p.Ala753Thr)
Xg.153955234T>ACA519702610HCFC1c.3165A>T (p.Ala1055=)
c.2967A>T (p.Ala989=)
c.2256A>T (p.Ala752=)
Xg.153955234T>CCA519702611HCFC1c.3165A>G (p.Ala1055=)
c.2967A>G (p.Ala989=)
c.2256A>G (p.Ala752=)
Xg.153955234T>GCA519702612HCFC1c.3165A>C (p.Ala1055=)
c.2967A>C (p.Ala989=)
c.2256A>C (p.Ala752=)
Xg.153955235G>ACA415125798HCFC1c.3164C>T (p.Ala1055Val)
c.2966C>T (p.Ala989Val)
c.2255C>T (p.Ala752Val)
Xg.153955235G>CCA415125800HCFC1c.3164C>G (p.Ala1055Gly)
c.2966C>G (p.Ala989Gly)
c.2255C>G (p.Ala752Gly)
Xg.153955235G>TCA415125802HCFC1c.3164C>A (p.Ala1055Glu)
c.2966C>A (p.Ala989Glu)
c.2255C>A (p.Ala752Glu)
Xg.153955236C>ACA415125809HCFC1c.3163G>T (p.Ala1055Ser)
c.2965G>T (p.Ala989Ser)
c.2254G>T (p.Ala752Ser)
Xg.153955236C>GCA415125807HCFC1c.3163G>C (p.Ala1055Pro)
c.2965G>C (p.Ala989Pro)
c.2254G>C (p.Ala752Pro)
Xg.153955236C>TCA415125805HCFC1c.3163G>A (p.Ala1055Thr)
c.2965G>A (p.Ala989Thr)
c.2254G>A (p.Ala752Thr)
Xg.153955237C>ACA415125811HCFC1c.3162G>T (p.Glu1054Asp)
c.2964G>T (p.Glu988Asp)
c.2253G>T (p.Glu751Asp)
Xg.153955237C>GCA415125813HCFC1c.3162G>C (p.Glu1054Asp)
c.2964G>C (p.Glu988Asp)
c.2253G>C (p.Glu751Asp)
Xg.153955237C>TCA519702617HCFC1c.3162G>A (p.Glu1054=)
c.2964G>A (p.Glu988=)
c.2253G>A (p.Glu751=)
Xg.153955238T>ACA415125816HCFC1c.3161A>T (p.Glu1054Val)
c.2963A>T (p.Glu988Val)
c.2252A>T (p.Glu751Val)
Xg.153955238T>CCA415125817HCFC1c.3161A>G (p.Glu1054Gly)
c.2963A>G (p.Glu988Gly)
c.2252A>G (p.Glu751Gly)
Xg.153955238T>GCA415125818HCFC1c.3161A>C (p.Glu1054Ala)
c.2963A>C (p.Glu988Ala)
c.2252A>C (p.Glu751Ala)
Xg.153955239C>ACA415125819HCFC1c.3160G>T (p.Glu1054Ter)
c.2962G>T (p.Glu988Ter)
c.2251G>T (p.Glu751Ter)
Xg.153955239C>GCA415125821HCFC1c.3160G>C (p.Glu1054Gln)
c.2962G>C (p.Glu988Gln)
c.2251G>C (p.Glu751Gln)
Xg.153955239C>TCA415125823HCFC1c.3160G>A (p.Glu1054Lys)
c.2962G>A (p.Glu988Lys)
c.2251G>A (p.Glu751Lys)
Xg.153955240C>ACA415125825HCFC1c.3159G>T (p.Gln1053His)
c.2961G>T (p.Gln987His)
c.2250G>T (p.Gln750His)
Xg.153955240C>GCA415125826HCFC1c.3159G>C (p.Gln1053His)
c.2961G>C (p.Gln987His)
c.2250G>C (p.Gln750His)
Xg.153955240C>TCA519702624HCFC1c.3159G>A (p.Gln1053=)
c.2961G>A (p.Gln987=)
c.2250G>A (p.Gln750=)
Xg.153955241T>ACA415125831HCFC1c.3158A>T (p.Gln1053Leu)
c.2960A>T (p.Gln987Leu)
c.2249A>T (p.Gln750Leu)
Xg.153955241T>CCA415125833HCFC1c.3158A>G (p.Gln1053Arg)
c.2960A>G (p.Gln987Arg)
c.2249A>G (p.Gln750Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153955241T>GCA415125829HCFC1c.3158A>C (p.Gln1053Pro)
c.2960A>C (p.Gln987Pro)
c.2249A>C (p.Gln750Pro)
Xg.153955241T=CA2466540472HCFC1c.3158A= (p.Gln1053=)
c.2960A= (p.Gln987=)
c.2249A= (p.Gln750=)
Xg.153955242G>ACA415125835HCFC1c.3157C>T (p.Gln1053Ter)
c.2959C>T (p.Gln987Ter)
c.2248C>T (p.Gln750Ter)
Xg.153955242G>CCA415125837HCFC1c.3157C>G (p.Gln1053Glu)
c.2959C>G (p.Gln987Glu)
c.2248C>G (p.Gln750Glu)
Xg.153955242G>TCA415125839HCFC1c.3157C>A (p.Gln1053Lys)
c.2959C>A (p.Gln987Lys)
c.2248C>A (p.Gln750Lys)
Xg.153955243T>ACA415125841HCFC1c.3156A>T (p.Arg1052Ser)
c.2958A>T (p.Arg986Ser)
c.2247A>T (p.Arg749Ser)
Xg.153955243T>CCA519702628HCFC1c.3156A>G (p.Arg1052=)
c.2958A>G (p.Arg986=)
c.2247A>G (p.Arg749=)
Xg.153955243T>GCA415125843HCFC1c.3156A>C (p.Arg1052Ser)
c.2958A>C (p.Arg986Ser)
c.2247A>C (p.Arg749Ser)
Xg.153955244C>ACA415125846HCFC1c.3155G>T (p.Arg1052Ile)
c.2957G>T (p.Arg986Ile)
c.2246G>T (p.Arg749Ile)
Xg.153955244C=CA2466540473HCFC1c.3155G= (p.Arg1052=)
c.2957G= (p.Arg986=)
c.2246G= (p.Arg749=)
Xg.153955244C>GCA415125849HCFC1c.3155G>C (p.Arg1052Thr)
c.2957G>C (p.Arg986Thr)
c.2246G>C (p.Arg749Thr)
 dbSNP gnomAD v4
Xg.153955244C>TCA415125852HCFC1c.3155G>A (p.Arg1052Lys)
c.2957G>A (p.Arg986Lys)
c.2246G>A (p.Arg749Lys)
Xg.153955245T>ACA415125857HCFC1c.3154A>T (p.Arg1052Ter)
c.2956A>T (p.Arg986Ter)
c.2245A>T (p.Arg749Ter)
Xg.153955245T>CCA415125859HCFC1c.3154A>G (p.Arg1052Gly)
c.2956A>G (p.Arg986Gly)
c.2245A>G (p.Arg749Gly)
 gnomAD v4
Xg.153955245T>GCA519702635HCFC1c.3154A>C (p.Arg1052=)
c.2956A>C (p.Arg986=)
c.2245A>C (p.Arg749=)
Xg.153955246G>ACA519702636HCFC1c.3153C>T (p.Asp1051=)
c.2955C>T (p.Asp985=)
c.2244C>T (p.Asp748=)
 gnomAD v4
Xg.153955246G>CCA415125863HCFC1c.3153C>G (p.Asp1051Glu)
c.2955C>G (p.Asp985Glu)
c.2244C>G (p.Asp748Glu)
Xg.153955246G>TCA415125865HCFC1c.3153C>A (p.Asp1051Glu)
c.2955C>A (p.Asp985Glu)
c.2244C>A (p.Asp748Glu)
Xg.153955247T>ACA415125868HCFC1c.3152A>T (p.Asp1051Val)
c.2954A>T (p.Asp985Val)
c.2243A>T (p.Asp748Val)
Xg.153955247T>CCA415125870HCFC1c.3152A>G (p.Asp1051Gly)
c.2954A>G (p.Asp985Gly)
c.2243A>G (p.Asp748Gly)
Xg.153955247T>GCA415125869HCFC1c.3152A>C (p.Asp1051Ala)
c.2954A>C (p.Asp985Ala)
c.2243A>C (p.Asp748Ala)
Xg.153955248C>ACA415125873HCFC1c.3151G>T (p.Asp1051Tyr)
c.2953G>T (p.Asp985Tyr)
c.2242G>T (p.Asp748Tyr)
Xg.153955248C=CA2466540474HCFC1c.3151G= (p.Asp1051=)
c.2953G= (p.Asp985=)
c.2242G= (p.Asp748=)
Xg.153955248C>GCA415125875HCFC1c.3151G>C (p.Asp1051His)
c.2953G>C (p.Asp985His)
c.2242G>C (p.Asp748His)
Xg.153955248C>TCA415125876HCFC1c.3151G>A (p.Asp1051Asn)
c.2953G>A (p.Asp985Asn)
c.2242G>A (p.Asp748Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.153955249A>CCA415125879HCFC1c.3150T>G (p.Cys1050Trp)
c.2952T>G (p.Cys984Trp)
c.2241T>G (p.Cys747Trp)
Xg.153955249A>GCA519702640HCFC1c.3150T>C (p.Cys1050=)
c.2952T>C (p.Cys984=)
c.2241T>C (p.Cys747=)
Xg.153955249A>TCA415125881HCFC1c.3150T>A (p.Cys1050Ter)
c.2952T>A (p.Cys984Ter)
c.2241T>A (p.Cys747Ter)
Xg.153955250C>ACA415125886HCFC1c.3149G>T (p.Cys1050Phe)
c.2951G>T (p.Cys984Phe)
c.2240G>T (p.Cys747Phe)
Xg.153955250C=CA2466540475HCFC1c.3149G= (p.Cys1050=)
c.2951G= (p.Cys984=)
c.2240G= (p.Cys747=)
Xg.153955250C>GCA415125888HCFC1c.3149G>C (p.Cys1050Ser)
c.2951G>C (p.Cys984Ser)
c.2240G>C (p.Cys747Ser)
Xg.153955250C>TCA415125890HCFC1c.3149G>A (p.Cys1050Tyr)
c.2951G>A (p.Cys984Tyr)
c.2240G>A (p.Cys747Tyr)
 dbSNP
Xg.153955251A>CCA415125894HCFC1c.3148T>G (p.Cys1050Gly)
c.2950T>G (p.Cys984Gly)
c.2239T>G (p.Cys747Gly)
Xg.153955251A>GCA415125895HCFC1c.3148T>C (p.Cys1050Arg)
c.2950T>C (p.Cys984Arg)
c.2239T>C (p.Cys747Arg)
Xg.153955251A>TCA415125897HCFC1c.3148T>A (p.Cys1050Ser)
c.2950T>A (p.Cys984Ser)
c.2239T>A (p.Cys747Ser)
Xg.153955252G>ACA519702646HCFC1c.3147C>T (p.Val1049=)
c.2949C>T (p.Val983=)
c.2238C>T (p.Val746=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153955252G>CCA519702644HCFC1c.3147C>G (p.Val1049=)
c.2949C>G (p.Val983=)
c.2238C>G (p.Val746=)
Xg.153955252G=CA2466540476HCFC1c.3147C= (p.Val1049=)
c.2949C= (p.Val983=)
c.2238C= (p.Val746=)
Xg.153955252G>TCA519702645HCFC1c.3147C>A (p.Val1049=)
c.2949C>A (p.Val983=)
c.2238C>A (p.Val746=)
Xg.153955253A>CCA415125902HCFC1c.3146T>G (p.Val1049Gly)
c.2948T>G (p.Val983Gly)
c.2237T>G (p.Val746Gly)
Xg.153955253A>GCA415125904HCFC1c.3146T>C (p.Val1049Ala)
c.2948T>C (p.Val983Ala)
c.2237T>C (p.Val746Ala)
Xg.153955253A>TCA415125899HCFC1c.3146T>A (p.Val1049Asp)
c.2948T>A (p.Val983Asp)
c.2237T>A (p.Val746Asp)
Xg.153955254C>ACA415125912HCFC1c.3145G>T (p.Val1049Phe)
c.2947G>T (p.Val983Phe)
c.2236G>T (p.Val746Phe)
 COSMIC COSMIC
Xg.153955254C=CA2466540477HCFC1c.3145G= (p.Val1049=)
c.2947G= (p.Val983=)
c.2236G= (p.Val746=)
Xg.153955254C>GCA415125908HCFC1c.3145G>C (p.Val1049Leu)
c.2947G>C (p.Val983Leu)
c.2236G>C (p.Val746Leu)
Xg.153955254C>TCA337254067HCFC1c.3145G>A (p.Val1049Ile)
c.2947G>A (p.Val983Ile)
c.2236G>A (p.Val746Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.153955255G>ACA10557235HCFC1c.3144C>T (p.Phe1048=)
c.2946C>T (p.Phe982=)
c.2235C>T (p.Phe745=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.153955255G>CCA415125918HCFC1c.3144C>G (p.Phe1048Leu)
c.2946C>G (p.Phe982Leu)
c.2235C>G (p.Phe745Leu)
Xg.153955255G=CA2466540478HCFC1c.3144C= (p.Phe1048=)
c.2946C= (p.Phe982=)
c.2235C= (p.Phe745=)
Xg.153955255G>TCA415125920HCFC1c.3144C>A (p.Phe1048Leu)
c.2946C>A (p.Phe982Leu)
c.2235C>A (p.Phe745Leu)
 COSMIC COSMIC
Xg.153955256A>CCA415125923HCFC1c.3143T>G (p.Phe1048Cys)
c.2945T>G (p.Phe982Cys)
c.2234T>G (p.Phe745Cys)
Xg.153955256A>GCA415125926HCFC1c.3143T>C (p.Phe1048Ser)
c.2945T>C (p.Phe982Ser)
c.2234T>C (p.Phe745Ser)
Xg.153955256A>TCA415125929HCFC1c.3143T>A (p.Phe1048Tyr)
c.2945T>A (p.Phe982Tyr)
c.2234T>A (p.Phe745Tyr)
Xg.153955257A=CA2466540479HCFC1c.3142T= (p.Phe1048=)
c.2944T= (p.Phe982=)
c.2233T= (p.Phe745=)
Xg.153955257A>CCA415125933HCFC1c.3142T>G (p.Phe1048Val)
c.2944T>G (p.Phe982Val)
c.2233T>G (p.Phe745Val)
Xg.153955257A>GCA415125935HCFC1c.3142T>C (p.Phe1048Leu)
c.2944T>C (p.Phe982Leu)
c.2233T>C (p.Phe745Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.153955257A>TCA415125938HCFC1c.3142T>A (p.Phe1048Ile)
c.2944T>A (p.Phe982Ile)
c.2233T>A (p.Phe745Ile)
Xg.153955258C>ACA415125941HCFC1c.3141G>T (p.Gln1047His)
c.2943G>T (p.Gln981His)
c.2232G>T (p.Gln744His)
 COSMIC COSMIC
Xg.153955258C>GCA415125943HCFC1c.3141G>C (p.Gln1047His)
c.2943G>C (p.Gln981His)
c.2232G>C (p.Gln744His)
Xg.153955258C>TCA519702651HCFC1c.3141G>A (p.Gln1047=)
c.2943G>A (p.Gln981=)
c.2232G>A (p.Gln744=)
Xg.153955259T>ACA415125952HCFC1c.3140A>T (p.Gln1047Leu)
c.2942A>T (p.Gln981Leu)
c.2231A>T (p.Gln744Leu)
 gnomAD v4
Xg.153955259T>CCA415125946HCFC1c.3140A>G (p.Gln1047Arg)
c.2942A>G (p.Gln981Arg)
c.2231A>G (p.Gln744Arg)
Xg.153955259T>GCA415125949HCFC1c.3140A>C (p.Gln1047Pro)
c.2942A>C (p.Gln981Pro)
c.2231A>C (p.Gln744Pro)
Xg.153955260G>ACA415125955HCFC1c.3139C>T (p.Gln1047Ter)
c.2941C>T (p.Gln981Ter)
c.2230C>T (p.Gln744Ter)
Xg.153955260G>CCA415125958HCFC1c.3139C>G (p.Gln1047Glu)
c.2941C>G (p.Gln981Glu)
c.2230C>G (p.Gln744Glu)
Xg.153955260G>TCA415125960HCFC1c.3139C>A (p.Gln1047Lys)
c.2941C>A (p.Gln981Lys)
c.2230C>A (p.Gln744Lys)
 gnomAD v4
Xg.153955261C>ACA519702652HCFC1c.3138G>T (p.Val1046=)
c.2940G>T (p.Val980=)
c.2229G>T (p.Val743=)
Xg.153955261C>GCA519702653HCFC1c.3138G>C (p.Val1046=)
c.2940G>C (p.Val980=)
c.2229G>C (p.Val743=)
Xg.153955261C>TCA519702654HCFC1c.3138G>A (p.Val1046=)
c.2940G>A (p.Val980=)
c.2229G>A (p.Val743=)
Xg.153955262A>CCA415125964HCFC1c.3137T>G (p.Val1046Gly)
c.2939T>G (p.Val980Gly)
c.2228T>G (p.Val743Gly)
Xg.153955262A>GCA415125965HCFC1c.3137T>C (p.Val1046Ala)
c.2939T>C (p.Val980Ala)
c.2228T>C (p.Val743Ala)
 COSMIC COSMIC
Xg.153955262A>TCA415125967HCFC1c.3137T>A (p.Val1046Glu)
c.2939T>A (p.Val980Glu)
c.2228T>A (p.Val743Glu)
Xg.153955263C>ACA415125971HCFC1c.3136G>T (p.Val1046Leu)
c.2938G>T (p.Val980Leu)
c.2227G>T (p.Val743Leu)
Xg.153955263C=CA2466540480HCFC1c.3136G= (p.Val1046=)
c.2938G= (p.Val980=)
c.2227G= (p.Val743=)
Xg.153955263C>GCA415125973HCFC1c.3136G>C (p.Val1046Leu)
c.2938G>C (p.Val980Leu)
c.2227G>C (p.Val743Leu)
Xg.153955263C>TCA415125975HCFC1c.3136G>A (p.Val1046Met)
c.2938G>A (p.Val980Met)
c.2227G>A (p.Val743Met)
 dbSNP
Xg.153955264T>ACA415125977HCFC1c.3135A>T (p.Gln1045His)
c.2937A>T (p.Gln979His)
c.2226A>T (p.Gln742His)
Xg.153955264T>CCA519702655HCFC1c.3135A>G (p.Gln1045=)
c.2937A>G (p.Gln979=)
c.2226A>G (p.Gln742=)
Xg.153955264T>GCA415125978HCFC1c.3135A>C (p.Gln1045His)
c.2937A>C (p.Gln979His)
c.2226A>C (p.Gln742His)
Xg.153955265T>ACA415125980HCFC1c.3134A>T (p.Gln1045Leu)
c.2936A>T (p.Gln979Leu)
c.2225A>T (p.Gln742Leu)
Xg.153955265T>CCA415125982HCFC1c.3134A>G (p.Gln1045Arg)
c.2936A>G (p.Gln979Arg)
c.2225A>G (p.Gln742Arg)
Xg.153955265T>GCA415125981HCFC1c.3134A>C (p.Gln1045Pro)
c.2936A>C (p.Gln979Pro)
c.2225A>C (p.Gln742Pro)
Xg.153955266G>ACA415125984HCFC1c.3133C>T (p.Gln1045Ter)
c.2935C>T (p.Gln979Ter)
c.2224C>T (p.Gln742Ter)
Xg.153955266G>CCA415125987HCFC1c.3133C>G (p.Gln1045Glu)
c.2935C>G (p.Gln979Glu)
c.2224C>G (p.Gln742Glu)
Xg.153955266G>TCA415125988HCFC1c.3133C>A (p.Gln1045Lys)
c.2935C>A (p.Gln979Lys)
c.2224C>A (p.Gln742Lys)
Xg.153955267G>ACA519702656HCFC1c.3132C>T (p.Thr1044=)
c.2934C>T (p.Thr978=)
c.2223C>T (p.Thr741=)
Xg.153955267G>CCA519702657HCFC1c.3132C>G (p.Thr1044=)
c.2934C>G (p.Thr978=)
c.2223C>G (p.Thr741=)
Xg.153955267G>TCA519702658HCFC1c.3132C>A (p.Thr1044=)
c.2934C>A (p.Thr978=)
c.2223C>A (p.Thr741=)
Xg.153955268G>ACA415125989HCFC1c.3131C>T (p.Thr1044Ile)
c.2933C>T (p.Thr978Ile)
c.2222C>T (p.Thr741Ile)
Xg.153955268G>CCA415125998HCFC1c.3131C>G (p.Thr1044Ser)
c.2933C>G (p.Thr978Ser)
c.2222C>G (p.Thr741Ser)
Xg.153955268G>TCA415126000HCFC1c.3131C>A (p.Thr1044Asn)
c.2933C>A (p.Thr978Asn)
c.2222C>A (p.Thr741Asn)
 COSMIC COSMIC
Xg.153955269T>ACA415126005HCFC1c.3130A>T (p.Thr1044Ser)
c.2932A>T (p.Thr978Ser)
c.2221A>T (p.Thr741Ser)
Xg.153955269T>CCA415126007HCFC1c.3130A>G (p.Thr1044Ala)
c.2932A>G (p.Thr978Ala)
c.2221A>G (p.Thr741Ala)
Xg.153955269T>GCA415126008HCFC1c.3130A>C (p.Thr1044Pro)
c.2932A>C (p.Thr978Pro)
c.2221A>C (p.Thr741Pro)
Xg.153955270G>ACA519702659HCFC1c.3129C>T (p.Pro1043=)
c.2931C>T (p.Pro977=)
c.2220C>T (p.Pro740=)
Xg.153955270G>CCA519702661HCFC1c.3129C>G (p.Pro1043=)
c.2931C>G (p.Pro977=)
c.2220C>G (p.Pro740=)
Xg.153955270G>TCA519702660HCFC1c.3129C>A (p.Pro1043=)
c.2931C>A (p.Pro977=)
c.2220C>A (p.Pro740=)
Xg.153955272delCA2516738519HCFC1c.3129del (p.Thr1044ProfsTer17)
c.2931del (p.Thr978ProfsTer17)
c.2220del (p.Thr741ProfsTer17)
Xg.153955271G>ACA415126009HCFC1c.3128C>T (p.Pro1043Leu)
c.2930C>T (p.Pro977Leu)
c.2219C>T (p.Pro740Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955271G>CCA415126013HCFC1c.3128C>G (p.Pro1043Arg)
c.2930C>G (p.Pro977Arg)
c.2219C>G (p.Pro740Arg)
Xg.153955271G=CA2466540481HCFC1c.3128C= (p.Pro1043=)
c.2930C= (p.Pro977=)
c.2219C= (p.Pro740=)
Xg.153955271G>TCA415126016HCFC1c.3128C>A (p.Pro1043His)
c.2930C>A (p.Pro977His)
c.2219C>A (p.Pro740His)
Xg.153955272G>ACA415126018HCFC1c.3127C>T (p.Pro1043Ser)
c.2929C>T (p.Pro977Ser)
c.2218C>T (p.Pro740Ser)
 dbSNP gnomAD v4
Xg.153955272G>CCA415126023HCFC1c.3127C>G (p.Pro1043Ala)
c.2929C>G (p.Pro977Ala)
c.2218C>G (p.Pro740Ala)
Xg.153955272G=CA2466540482HCFC1c.3127C= (p.Pro1043=)
c.2929C= (p.Pro977=)
c.2218C= (p.Pro740=)
Xg.153955272G>TCA415126021HCFC1c.3127C>A (p.Pro1043Thr)
c.2929C>A (p.Pro977Thr)
c.2218C>A (p.Pro740Thr)
Xg.153955273C>ACA415126026HCFC1c.3126G>T (p.Gln1042His)
c.2928G>T (p.Gln976His)
c.2217G>T (p.Gln739His)
Xg.153955273C=CA2466540483HCFC1c.3126G= (p.Gln1042=)
c.2928G= (p.Gln976=)
c.2217G= (p.Gln739=)
Xg.153955273C>GCA415126028HCFC1c.3126G>C (p.Gln1042His)
c.2928G>C (p.Gln976His)
c.2217G>C (p.Gln739His)
Xg.153955273C>TCA208007HCFC1c.3126G>A (p.Gln1042=)
c.2928G>A (p.Gln976=)
c.2217G>A (p.Gln739=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955274T>ACA415126033HCFC1c.3125A>T (p.Gln1042Leu)
c.2927A>T (p.Gln976Leu)
c.2216A>T (p.Gln739Leu)
Xg.153955274T>CCA415126035HCFC1c.3125A>G (p.Gln1042Arg)
c.2927A>G (p.Gln976Arg)
c.2216A>G (p.Gln739Arg)
 gnomAD v4
Xg.153955274T>GCA415126037HCFC1c.3125A>C (p.Gln1042Pro)
c.2927A>C (p.Gln976Pro)
c.2216A>C (p.Gln739Pro)
 dbSNP gnomAD v2
Xg.153955274T=CA2466540484HCFC1c.3125A= (p.Gln1042=)
c.2927A= (p.Gln976=)
c.2216A= (p.Gln739=)
Xg.153955275G>ACA415126039HCFC1c.3124C>T (p.Gln1042Ter)
c.2926C>T (p.Gln976Ter)
c.2215C>T (p.Gln739Ter)
Xg.153955275G>CCA415126042HCFC1c.3124C>G (p.Gln1042Glu)
c.2926C>G (p.Gln976Glu)
c.2215C>G (p.Gln739Glu)
Xg.153955275G>TCA415126044HCFC1c.3124C>A (p.Gln1042Lys)
c.2926C>A (p.Gln976Lys)
c.2215C>A (p.Gln739Lys)
Xg.153955276G>ACA519702662HCFC1c.3123C>T (p.Pro1041=)
c.2925C>T (p.Pro975=)
c.2214C>T (p.Pro738=)
Xg.153955276G>CCA519702663HCFC1c.3123C>G (p.Pro1041=)
c.2925C>G (p.Pro975=)
c.2214C>G (p.Pro738=)
 gnomAD v4
Xg.153955276G>TCA519702664HCFC1c.3123C>A (p.Pro1041=)
c.2925C>A (p.Pro975=)
c.2214C>A (p.Pro738=)
Xg.153955277G>ACA415126048HCFC1c.3122C>T (p.Pro1041Leu)
c.2924C>T (p.Pro975Leu)
c.2213C>T (p.Pro738Leu)
 ClinVar dbSNP
Xg.153955277G>CCA415126051HCFC1c.3122C>G (p.Pro1041Arg)
c.2924C>G (p.Pro975Arg)
c.2213C>G (p.Pro738Arg)
 gnomAD v4
Xg.153955277G>TCA415126047HCFC1c.3122C>A (p.Pro1041His)
c.2924C>A (p.Pro975His)
c.2213C>A (p.Pro738His)
Xg.153955278G>ACA10557236HCFC1c.3121C>T (p.Pro1041Ser)
c.2923C>T (p.Pro975Ser)
c.2212C>T (p.Pro738Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153955278G>CCA415126055HCFC1c.3121C>G (p.Pro1041Ala)
c.2923C>G (p.Pro975Ala)
c.2212C>G (p.Pro738Ala)
Xg.153955278G=CA2466540485HCFC1c.3121C= (p.Pro1041=)
c.2923C= (p.Pro975=)
c.2212C= (p.Pro738=)
Xg.153955278G>TCA415126057HCFC1c.3121C>A (p.Pro1041Thr)
c.2923C>A (p.Pro975Thr)
c.2212C>A (p.Pro738Thr)
Xg.153955279G>ACA519702665HCFC1c.3120C>T (p.His1040=)
c.2922C>T (p.His974=)
c.2211C>T (p.His737=)
Xg.153955279G>CCA415126061HCFC1c.3120C>G (p.His1040Gln)
c.2922C>G (p.His974Gln)
c.2211C>G (p.His737Gln)
Xg.153955279G=CA2466540486HCFC1c.3120C= (p.His1040=)
c.2922C= (p.His974=)
c.2211C= (p.His737=)
Xg.153955279G>TCA415126063HCFC1c.3120C>A (p.His1040Gln)
c.2922C>A (p.His974Gln)
c.2211C>A (p.His737Gln)
 dbSNP gnomAD v3 gnomAD v4
Xg.153955280T>ACA415126065HCFC1c.3119A>T (p.His1040Leu)
c.2921A>T (p.His974Leu)
c.2210A>T (p.His737Leu)
Xg.153955280T>CCA415126068HCFC1c.3119A>G (p.His1040Arg)
c.2921A>G (p.His974Arg)
c.2210A>G (p.His737Arg)
 dbSNP
Xg.153955280T>GCA415126070HCFC1c.3119A>C (p.His1040Pro)
c.2921A>C (p.His974Pro)
c.2210A>C (p.His737Pro)
Xg.153955280T=CA2466540487HCFC1c.3119A= (p.His1040=)
c.2921A= (p.His974=)
c.2210A= (p.His737=)
Xg.153955281G>ACA415126074HCFC1c.3118C>T (p.His1040Tyr)
c.2920C>T (p.His974Tyr)
c.2209C>T (p.His737Tyr)
 COSMIC COSMIC
Xg.153955281G>CCA415126075HCFC1c.3118C>G (p.His1040Asp)
c.2920C>G (p.His974Asp)
c.2209C>G (p.His737Asp)
Xg.153955281G>TCA415126076HCFC1c.3118C>A (p.His1040Asn)
c.2920C>A (p.His974Asn)
c.2209C>A (p.His737Asn)
Xg.153955282T>ACA519702666HCFC1c.3117A>T (p.Gly1039=)
c.2919A>T (p.Gly973=)
c.2208A>T (p.Gly736=)
Xg.153955282T>CCA10557237HCFC1c.3117A>G (p.Gly1039=)
c.2919A>G (p.Gly973=)
c.2208A>G (p.Gly736=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955282T>GCA519702667HCFC1c.3117A>C (p.Gly1039=)
c.2919A>C (p.Gly973=)
c.2208A>C (p.Gly736=)
 dbSNP
Xg.153955282T=CA2466540488HCFC1c.3117A= (p.Gly1039=)
c.2919A= (p.Gly973=)
c.2208A= (p.Gly736=)
Xg.153955283C>ACA415126086HCFC1c.3116G>T (p.Gly1039Val)
c.2918G>T (p.Gly973Val)
c.2207G>T (p.Gly736Val)
Xg.153955283C>GCA415126084HCFC1c.3116G>C (p.Gly1039Ala)
c.2918G>C (p.Gly973Ala)
c.2207G>C (p.Gly736Ala)
Xg.153955283C>TCA415126082HCFC1c.3116G>A (p.Gly1039Glu)
c.2918G>A (p.Gly973Glu)
c.2207G>A (p.Gly736Glu)
Xg.153955284C>ACA415126090HCFC1c.3115G>T (p.Gly1039Ter)
c.2917G>T (p.Gly973Ter)
c.2206G>T (p.Gly736Ter)
Xg.153955284C>GCA415126092HCFC1c.3115G>C (p.Gly1039Arg)
c.2917G>C (p.Gly973Arg)
c.2206G>C (p.Gly736Arg)
Xg.153955284C>TCA415126095HCFC1c.3115G>A (p.Gly1039Arg)
c.2917G>A (p.Gly973Arg)
c.2206G>A (p.Gly736Arg)
Xg.153955285C>ACA519702668HCFC1c.3114G>T (p.Gly1038=)
c.2916G>T (p.Gly972=)
c.2205G>T (p.Gly735=)
Xg.153955285C=CA2466540489HCFC1c.3114G= (p.Gly1038=)
c.2916G= (p.Gly972=)
c.2205G= (p.Gly735=)
Xg.153955285C>GCA519702669HCFC1c.3114G>C (p.Gly1038=)
c.2916G>C (p.Gly972=)
c.2205G>C (p.Gly735=)
Xg.153955285C>TCA519702670HCFC1c.3114G>A (p.Gly1038=)
c.2916G>A (p.Gly972=)
c.2205G>A (p.Gly735=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.153955286C>ACA415126098HCFC1c.3113G>T (p.Gly1038Val)
c.2915G>T (p.Gly972Val)
c.2204G>T (p.Gly735Val)
Xg.153955286C>GCA415126101HCFC1c.3113G>C (p.Gly1038Ala)
c.2915G>C (p.Gly972Ala)
c.2204G>C (p.Gly735Ala)
Xg.153955286C>TCA415126104HCFC1c.3113G>A (p.Gly1038Glu)
c.2915G>A (p.Gly972Glu)
c.2204G>A (p.Gly735Glu)
Xg.153955287C>ACA415126107HCFC1c.3112G>T (p.Gly1038Trp)
c.2914G>T (p.Gly972Trp)
c.2203G>T (p.Gly735Trp)
Xg.153955287C>GCA415126110HCFC1c.3112G>C (p.Gly1038Arg)
c.2914G>C (p.Gly972Arg)
c.2203G>C (p.Gly735Arg)
Xg.153955287C>TCA415126111HCFC1c.3112G>A (p.Gly1038Arg)
c.2914G>A (p.Gly972Arg)
c.2203G>A (p.Gly735Arg)
Xg.153955288A>CCA519702671HCFC1c.3111T>G (p.Leu1037=)
c.2913T>G (p.Leu971=)
c.2202T>G (p.Leu734=)
Xg.153955288A>GCA519702672HCFC1c.3111T>C (p.Leu1037=)
c.2913T>C (p.Leu971=)
c.2202T>C (p.Leu734=)
 gnomAD v4
Xg.153955288A>TCA519702673HCFC1c.3111T>A (p.Leu1037=)
c.2913T>A (p.Leu971=)
c.2202T>A (p.Leu734=)
Xg.153955289A>CCA415126114HCFC1c.3110T>G (p.Leu1037Arg)
c.2912T>G (p.Leu971Arg)
c.2201T>G (p.Leu734Arg)
Xg.153955289A>GCA415126115HCFC1c.3110T>C (p.Leu1037Pro)
c.2912T>C (p.Leu971Pro)
c.2201T>C (p.Leu734Pro)
Xg.153955289A>TCA415126118HCFC1c.3110T>A (p.Leu1037His)
c.2912T>A (p.Leu971His)
c.2201T>A (p.Leu734His)
 gnomAD v4
Xg.153955290G>ACA415126126HCFC1c.3109C>T (p.Leu1037Phe)
c.2911C>T (p.Leu971Phe)
c.2200C>T (p.Leu734Phe)
 dbSNP gnomAD v2 gnomAD v4
Xg.153955290G>CCA415126124HCFC1c.3109C>G (p.Leu1037Val)
c.2911C>G (p.Leu971Val)
c.2200C>G (p.Leu734Val)
Xg.153955290G=CA2466540490HCFC1c.3109C= (p.Leu1037=)
c.2911C= (p.Leu971=)
c.2200C= (p.Leu734=)
Xg.153955290G>TCA415126121HCFC1c.3109C>A (p.Leu1037Ile)
c.2911C>A (p.Leu971Ile)
c.2200C>A (p.Leu734Ile)
Xg.153955291G>ACA519702674HCFC1c.3108C>T (p.Asn1036=)
c.2910C>T (p.Asn970=)
c.2199C>T (p.Asn733=)
Xg.153955291G>CCA415126128HCFC1c.3108C>G (p.Asn1036Lys)
c.2910C>G (p.Asn970Lys)
c.2199C>G (p.Asn733Lys)
Xg.153955291G>TCA415126131HCFC1c.3108C>A (p.Asn1036Lys)
c.2910C>A (p.Asn970Lys)
c.2199C>A (p.Asn733Lys)
Xg.153955292T>ACA415126136HCFC1c.3107A>T (p.Asn1036Ile)
c.2909A>T (p.Asn970Ile)
c.2198A>T (p.Asn733Ile)
Xg.153955292T>CCA415126146HCFC1c.3107A>G (p.Asn1036Ser)
c.2909A>G (p.Asn970Ser)
c.2198A>G (p.Asn733Ser)
Xg.153955292T>GCA415126149HCFC1c.3107A>C (p.Asn1036Thr)
c.2909A>C (p.Asn970Thr)
c.2198A>C (p.Asn733Thr)
Xg.153955293T>ACA415126155HCFC1c.3106A>T (p.Asn1036Tyr)
c.2908A>T (p.Asn970Tyr)
c.2197A>T (p.Asn733Tyr)
Xg.153955293T>CCA415126158HCFC1c.3106A>G (p.Asn1036Asp)
c.2908A>G (p.Asn970Asp)
c.2197A>G (p.Asn733Asp)
Xg.153955293T>GCA415126159HCFC1c.3106A>C (p.Asn1036His)
c.2908A>C (p.Asn970His)
c.2197A>C (p.Asn733His)
Xg.153955294A>CCA519702677HCFC1c.3105T>G (p.Ala1035=)
c.2907T>G (p.Ala969=)
c.2196T>G (p.Ala732=)
Xg.153955294A>GCA519702676HCFC1c.3105T>C (p.Ala1035=)
c.2907T>C (p.Ala969=)
c.2196T>C (p.Ala732=)
Xg.153955294A>TCA519702675HCFC1c.3105T>A (p.Ala1035=)
c.2907T>A (p.Ala969=)
c.2196T>A (p.Ala732=)
Xg.153955295G>ACA415126160HCFC1c.3104C>T (p.Ala1035Val)
c.2906C>T (p.Ala969Val)
c.2195C>T (p.Ala732Val)
Xg.153955295G>CCA415126161HCFC1c.3104C>G (p.Ala1035Gly)
c.2906C>G (p.Ala969Gly)
c.2195C>G (p.Ala732Gly)
 ClinVar dbSNP
Xg.153955295G>TCA415126162HCFC1c.3104C>A (p.Ala1035Asp)
c.2906C>A (p.Ala969Asp)
c.2195C>A (p.Ala732Asp)
Xg.153955296C>ACA415126166HCFC1c.3103G>T (p.Ala1035Ser)
c.2905G>T (p.Ala969Ser)
c.2194G>T (p.Ala732Ser)
Xg.153955296C=CA2466540491HCFC1c.3103G= (p.Ala1035=)
c.2905G= (p.Ala969=)
c.2194G= (p.Ala732=)
Xg.153955296C>GCA415126165HCFC1c.3103G>C (p.Ala1035Pro)
c.2905G>C (p.Ala969Pro)
c.2194G>C (p.Ala732Pro)
 ClinVar dbSNP gnomAD v4
Xg.153955296C>TCA415126164HCFC1c.3103G>A (p.Ala1035Thr)
c.2905G>A (p.Ala969Thr)
c.2194G>A (p.Ala732Thr)
Xg.153955297C>ACA519702678HCFC1c.3102G>T (p.Val1034=)
c.2904G>T (p.Val968=)
c.2193G>T (p.Val731=)
Xg.153955297C>GCA519702679HCFC1c.3102G>C (p.Val1034=)
c.2904G>C (p.Val968=)
c.2193G>C (p.Val731=)
Xg.153955297C>TCA519702680HCFC1c.3102G>A (p.Val1034=)
c.2904G>A (p.Val968=)
c.2193G>A (p.Val731=)
Xg.153955298A=CA2466540492HCFC1c.3101T= (p.Val1034=)
c.2903T= (p.Val968=)
c.2192T= (p.Val731=)
Xg.153955298A>CCA415126170HCFC1c.3101T>G (p.Val1034Gly)
c.2903T>G (p.Val968Gly)
c.2192T>G (p.Val731Gly)
 gnomAD v4
Xg.153955298A>GCA415126172HCFC1c.3101T>C (p.Val1034Ala)
c.2903T>C (p.Val968Ala)
c.2192T>C (p.Val731Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.153955298A>TCA415126174HCFC1c.3101T>A (p.Val1034Glu)
c.2903T>A (p.Val968Glu)
c.2192T>A (p.Val731Glu)
Xg.153955299C>ACA415126180HCFC1c.3100G>T (p.Val1034Leu)
c.2902G>T (p.Val968Leu)
c.2191G>T (p.Val731Leu)
 gnomAD v4
Xg.153955299C=CA2466540493HCFC1c.3100G= (p.Val1034=)
c.2902G= (p.Val968=)
c.2191G= (p.Val731=)
Xg.153955299C>GCA415126181HCFC1c.3100G>C (p.Val1034Leu)
c.2902G>C (p.Val968Leu)
c.2191G>C (p.Val731Leu)
Xg.153955299C>TCA10557238HCFC1c.3100G>A (p.Val1034Met)
c.2902G>A (p.Val968Met)
c.2191G>A (p.Val731Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153955300A>CCA519702681HCFC1c.3099T>G (p.Val1033=)
c.2901T>G (p.Val967=)
c.2190T>G (p.Val730=)
Xg.153955300A>GCA519702682HCFC1c.3099T>C (p.Val1033=)
c.2901T>C (p.Val967=)
c.2190T>C (p.Val730=)
Xg.153955300A>TCA519702683HCFC1c.3099T>A (p.Val1033=)
c.2901T>A (p.Val967=)
c.2190T>A (p.Val730=)
Xg.153955301A=CA2466540494HCFC1c.3098T= (p.Val1033=)
c.2900T= (p.Val967=)
c.2189T= (p.Val730=)
Xg.153955301A>CCA415126186HCFC1c.3098T>G (p.Val1033Gly)
c.2900T>G (p.Val967Gly)
c.2189T>G (p.Val730Gly)
Xg.153955301A>GCA10557239HCFC1c.3098T>C (p.Val1033Ala)
c.2900T>C (p.Val967Ala)
c.2189T>C (p.Val730Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955301A>TCA415126189HCFC1c.3098T>A (p.Val1033Asp)
c.2900T>A (p.Val967Asp)
c.2189T>A (p.Val730Asp)
Xg.153955302C>ACA415126192HCFC1c.3097G>T (p.Val1033Phe)
c.2899G>T (p.Val967Phe)
c.2188G>T (p.Val730Phe)
Xg.153955302C>GCA415126193HCFC1c.3097G>C (p.Val1033Leu)
c.2899G>C (p.Val967Leu)
c.2188G>C (p.Val730Leu)
Xg.153955302C>TCA415126196HCFC1c.3097G>A (p.Val1033Ile)
c.2899G>A (p.Val967Ile)
c.2188G>A (p.Val730Ile)
 gnomAD v4
Xg.153955303A>CCA519702684HCFC1c.3096T>G (p.Thr1032=)
c.2898T>G (p.Thr966=)
c.2187T>G (p.Thr729=)
Xg.153955303A>GCA519702685HCFC1c.3096T>C (p.Thr1032=)
c.2898T>C (p.Thr966=)
c.2187T>C (p.Thr729=)
Xg.153955303A>TCA519702686HCFC1c.3096T>A (p.Thr1032=)
c.2898T>A (p.Thr966=)
c.2187T>A (p.Thr729=)
 gnomAD v4
Xg.153955304G>ACA415126209HCFC1c.3095C>T (p.Thr1032Ile)
c.2897C>T (p.Thr966Ile)
c.2186C>T (p.Thr729Ile)
Xg.153955304G>CCA415126205HCFC1c.3095C>G (p.Thr1032Ser)
c.2897C>G (p.Thr966Ser)
c.2186C>G (p.Thr729Ser)
Xg.153955304G>TCA415126204HCFC1c.3095C>A (p.Thr1032Asn)
c.2897C>A (p.Thr966Asn)
c.2186C>A (p.Thr729Asn)
Xg.153955305T>ACA415126211HCFC1c.3094A>T (p.Thr1032Ser)
c.2896A>T (p.Thr966Ser)
c.2185A>T (p.Thr729Ser)
Xg.153955305T>CCA415126217HCFC1c.3094A>G (p.Thr1032Ala)
c.2896A>G (p.Thr966Ala)
c.2185A>G (p.Thr729Ala)
 gnomAD v4
Xg.153955305T>GCA415126214HCFC1c.3094A>C (p.Thr1032Pro)
c.2896A>C (p.Thr966Pro)
c.2185A>C (p.Thr729Pro)
Xg.153955306A>CCA519702687HCFC1c.3093T>G (p.Thr1031=)
c.2895T>G (p.Thr965=)
c.2184T>G (p.Thr728=)
Xg.153955306A>GCA519702688HCFC1c.3093T>C (p.Thr1031=)
c.2895T>C (p.Thr965=)
c.2184T>C (p.Thr728=)
 dbSNP gnomAD v3 gnomAD v4
Xg.153955306A>TCA519702689HCFC1c.3093T>A (p.Thr1031=)
c.2895T>A (p.Thr965=)
c.2184T>A (p.Thr728=)
Xg.153955307G>ACA415126220HCFC1c.3092C>T (p.Thr1031Ile)
c.2894C>T (p.Thr965Ile)
c.2183C>T (p.Thr728Ile)
Xg.153955307G>CCA415126224HCFC1c.3092C>G (p.Thr1031Ser)
c.2894C>G (p.Thr965Ser)
c.2183C>G (p.Thr728Ser)
Xg.153955307G>TCA415126222HCFC1c.3092C>A (p.Thr1031Asn)
c.2894C>A (p.Thr965Asn)
c.2183C>A (p.Thr728Asn)
Xg.153955308T>ACA415126228HCFC1c.3091A>T (p.Thr1031Ser)
c.2893A>T (p.Thr965Ser)
c.2182A>T (p.Thr728Ser)
Xg.153955308T>CCA415126232HCFC1c.3091A>G (p.Thr1031Ala)
c.2893A>G (p.Thr965Ala)
c.2182A>G (p.Thr728Ala)
 gnomAD v4
Xg.153955308T>GCA415126231HCFC1c.3091A>C (p.Thr1031Pro)
c.2893A>C (p.Thr965Pro)
c.2182A>C (p.Thr728Pro)
Xg.153955309G>ACA519702690HCFC1c.3090C>T (p.Thr1030=)
c.2892C>T (p.Thr964=)
c.2181C>T (p.Thr727=)
 dbSNP
Xg.153955309G>CCA519702691HCFC1c.3090C>G (p.Thr1030=)
c.2892C>G (p.Thr964=)
c.2181C>G (p.Thr727=)
Xg.153955309G=CA2466540495HCFC1c.3090C= (p.Thr1030=)
c.2892C= (p.Thr964=)
c.2181C= (p.Thr727=)
Xg.153955309G>TCA519702692HCFC1c.3090C>A (p.Thr1030=)
c.2892C>A (p.Thr964=)
c.2181C>A (p.Thr727=)
Xg.153955310G>ACA415126237HCFC1c.3089C>T (p.Thr1030Ile)
c.2891C>T (p.Thr964Ile)
c.2180C>T (p.Thr727Ile)
Xg.153955310G>CCA415126239HCFC1c.3089C>G (p.Thr1030Ser)
c.2891C>G (p.Thr964Ser)
c.2180C>G (p.Thr727Ser)
Xg.153955310G>TCA415126240HCFC1c.3089C>A (p.Thr1030Asn)
c.2891C>A (p.Thr964Asn)
c.2180C>A (p.Thr727Asn)
Xg.153955311T>ACA415126251HCFC1c.3088A>T (p.Thr1030Ser)
c.2890A>T (p.Thr964Ser)
c.2179A>T (p.Thr727Ser)
Xg.153955311T>CCA415126254HCFC1c.3088A>G (p.Thr1030Ala)
c.2890A>G (p.Thr964Ala)
c.2179A>G (p.Thr727Ala)
 COSMIC
Xg.153955311T>GCA415126257HCFC1c.3088A>C (p.Thr1030Pro)
c.2890A>C (p.Thr964Pro)
c.2179A>C (p.Thr727Pro)
Xg.153955312G>ACA519702693HCFC1c.3087C>T (p.Ala1029=)
c.2889C>T (p.Ala963=)
c.2178C>T (p.Ala726=)
Xg.153955312G>CCA519702694HCFC1c.3087C>G (p.Ala1029=)
c.2889C>G (p.Ala963=)
c.2178C>G (p.Ala726=)
Xg.153955312G>TCA519702695HCFC1c.3087C>A (p.Ala1029=)
c.2889C>A (p.Ala963=)
c.2178C>A (p.Ala726=)
Xg.153955313G>ACA415126260HCFC1c.3086C>T (p.Ala1029Val)
c.2888C>T (p.Ala963Val)
c.2177C>T (p.Ala726Val)
Xg.153955313G>CCA415126263HCFC1c.3086C>G (p.Ala1029Gly)
c.2888C>G (p.Ala963Gly)
c.2177C>G (p.Ala726Gly)
Xg.153955313G>TCA415126265HCFC1c.3086C>A (p.Ala1029Asp)
c.2888C>A (p.Ala963Asp)
c.2177C>A (p.Ala726Asp)
Xg.153955314C>ACA415126272HCFC1c.3085G>T (p.Ala1029Ser)
c.2887G>T (p.Ala963Ser)
c.2176G>T (p.Ala726Ser)
Xg.153955314C=CA2466540496HCFC1c.3085G= (p.Ala1029=)
c.2887G= (p.Ala963=)
c.2176G= (p.Ala726=)
Xg.153955314C>GCA415126269HCFC1c.3085G>C (p.Ala1029Pro)
c.2887G>C (p.Ala963Pro)
c.2176G>C (p.Ala726Pro)
Xg.153955314C>TCA337254086HCFC1c.3085G>A (p.Ala1029Thr)
c.2887G>A (p.Ala963Thr)
c.2176G>A (p.Ala726Thr)
 dbSNP
Xg.153955315C>ACA519702698HCFC1c.3084G>T (p.Thr1028=)
c.2886G>T (p.Thr962=)
c.2175G>T (p.Thr725=)
 dbSNP gnomAD v3 gnomAD v4
Xg.153955315C=CA2466540497HCFC1c.3084G= (p.Thr1028=)
c.2886G= (p.Thr962=)
c.2175G= (p.Thr725=)
Xg.153955315C>GCA519702697HCFC1c.3084G>C (p.Thr1028=)
c.2886G>C (p.Thr962=)
c.2175G>C (p.Thr725=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.153955315C>TCA519702696HCFC1c.3084G>A (p.Thr1028=)
c.2886G>A (p.Thr962=)
c.2175G>A (p.Thr725=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955316G>ACA415126275HCFC1c.3083C>T (p.Thr1028Met)
c.2885C>T (p.Thr962Met)
c.2174C>T (p.Thr725Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.153955316G>CCA337254093HCFC1c.3083C>G (p.Thr1028Arg)
c.2885C>G (p.Thr962Arg)
c.2174C>G (p.Thr725Arg)
 dbSNP gnomAD v3 gnomAD v4
Xg.153955316G=CA2466540498HCFC1c.3083C= (p.Thr1028=)
c.2885C= (p.Thr962=)
c.2174C= (p.Thr725=)
Xg.153955316G>TCA415126276HCFC1c.3083C>A (p.Thr1028Lys)
c.2885C>A (p.Thr962Lys)
c.2174C>A (p.Thr725Lys)
 COSMIC COSMIC
Xg.153955318_153955319insGTGGTGGCGGTGCA2516520166HCFC1c.3083_3084insCGCCACCACCAC (p.Thr1028_Ala1029insAlaThrThrThr)
c.2885_2886insCGCCACCACCAC (p.Thr962_Ala963insAlaThrThrThr)
c.2174_2175insCGCCACCACCAC (p.Thr725_Ala726insAlaThrThrThr)
Xg.153955317T>ACA415126278HCFC1c.3082A>T (p.Thr1028Ser)
c.2884A>T (p.Thr962Ser)
c.2173A>T (p.Thr725Ser)
Xg.153955317T>CCA10557240HCFC1c.3082A>G (p.Thr1028Ala)
c.2884A>G (p.Thr962Ala)
c.2173A>G (p.Thr725Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153955317T>GCA415126284HCFC1c.3082A>C (p.Thr1028Pro)
c.2884A>C (p.Thr962Pro)
c.2173A>C (p.Thr725Pro)
Xg.153955317T=CA2466540499HCFC1c.3082A= (p.Thr1028=)
c.2884A= (p.Thr962=)
c.2173A= (p.Thr725=)
Xg.153955318G>ACA10557241HCFC1c.3081C>T (p.Asn1027=)
c.2883C>T (p.Asn961=)
c.2172C>T (p.Asn724=)
 dbSNP ExAC gnomAD v4
Xg.153955318G>CCA415126288HCFC1c.3081C>G (p.Asn1027Lys)
c.2883C>G (p.Asn961Lys)
c.2172C>G (p.Asn724Lys)
Xg.153955318G=CA2466540500HCFC1c.3081C= (p.Asn1027=)
c.2883C= (p.Asn961=)
c.2172C= (p.Asn724=)
Xg.153955318G>TCA415126289HCFC1c.3081C>A (p.Asn1027Lys)
c.2883C>A (p.Asn961Lys)
c.2172C>A (p.Asn724Lys)
Xg.153955319T>ACA415126296HCFC1c.3080A>T (p.Asn1027Ile)
c.2882A>T (p.Asn961Ile)
c.2171A>T (p.Asn724Ile)
Xg.153955319T>CCA415126295HCFC1c.3080A>G (p.Asn1027Ser)
c.2882A>G (p.Asn961Ser)
c.2171A>G (p.Asn724Ser)
Xg.153955319T>GCA415126293HCFC1c.3080A>C (p.Asn1027Thr)
c.2882A>C (p.Asn961Thr)
c.2171A>C (p.Asn724Thr)
Xg.153955320T>ACA415126300HCFC1c.3079A>T (p.Asn1027Tyr)
c.2881A>T (p.Asn961Tyr)
c.2170A>T (p.Asn724Tyr)
Xg.153955320T>CCA415126303HCFC1c.3079A>G (p.Asn1027Asp)
c.2881A>G (p.Asn961Asp)
c.2170A>G (p.Asn724Asp)
Xg.153955320T>GCA415126305HCFC1c.3079A>C (p.Asn1027His)
c.2881A>C (p.Asn961His)
c.2170A>C (p.Asn724His)
 gnomAD v3 gnomAD v4
Xg.153955321G>ACA519702699HCFC1c.3078C>T (p.Thr1026=)
c.2880C>T (p.Thr960=)
c.2169C>T (p.Thr723=)
 gnomAD v4
Xg.153955321G>CCA519702701HCFC1c.3078C>G (p.Thr1026=)
c.2880C>G (p.Thr960=)
c.2169C>G (p.Thr723=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955321G=CA2466540501HCFC1c.3078C= (p.Thr1026=)
c.2880C= (p.Thr960=)
c.2169C= (p.Thr723=)
Xg.153955321G>TCA519702700HCFC1c.3078C>A (p.Thr1026=)
c.2880C>A (p.Thr960=)
c.2169C>A (p.Thr723=)
Xg.153955323_153955349delCA2824266500HCFC1c.3052_3078del (p.Cys1018_Thr1026del)
c.2854_2880del (p.Cys952_Thr960del)
c.2143_2169del (p.Cys715_Thr723del)
Xg.153955322G>ACA415126308HCFC1c.3077C>T (p.Thr1026Ile)
c.2879C>T (p.Thr960Ile)
c.2168C>T (p.Thr723Ile)
 gnomAD v4
Xg.153955322G>CCA415126309HCFC1c.3077C>G (p.Thr1026Ser)
c.2879C>G (p.Thr960Ser)
c.2168C>G (p.Thr723Ser)
Xg.153955322G>TCA415126310HCFC1c.3077C>A (p.Thr1026Asn)
c.2879C>A (p.Thr960Asn)
c.2168C>A (p.Thr723Asn)
Xg.153955323T>ACA415126312HCFC1c.3076A>T (p.Thr1026Ser)
c.2878A>T (p.Thr960Ser)
c.2167A>T (p.Thr723Ser)
Xg.153955323T>CCA415126314HCFC1c.3076A>G (p.Thr1026Ala)
c.2878A>G (p.Thr960Ala)
c.2167A>G (p.Thr723Ala)
Xg.153955323T>GCA415126315HCFC1c.3076A>C (p.Thr1026Pro)
c.2878A>C (p.Thr960Pro)
c.2167A>C (p.Thr723Pro)
Xg.153955324G>ACA519702702HCFC1c.3075C>T (p.Thr1025=)
c.2877C>T (p.Thr959=)
c.2166C>T (p.Thr722=)
Xg.153955324G>CCA519702703HCFC1c.3075C>G (p.Thr1025=)
c.2877C>G (p.Thr959=)
c.2166C>G (p.Thr722=)
Xg.153955324G>TCA519702704HCFC1c.3075C>A (p.Thr1025=)
c.2877C>A (p.Thr959=)
c.2166C>A (p.Thr722=)
Xg.153955325G>ACA415126320HCFC1c.3074C>T (p.Thr1025Ile)
c.2876C>T (p.Thr959Ile)
c.2165C>T (p.Thr722Ile)
 gnomAD v4
Xg.153955325G>CCA415126321HCFC1c.3074C>G (p.Thr1025Ser)
c.2876C>G (p.Thr959Ser)
c.2165C>G (p.Thr722Ser)
Xg.153955325G>TCA415126324HCFC1c.3074C>A (p.Thr1025Asn)
c.2876C>A (p.Thr959Asn)
c.2165C>A (p.Thr722Asn)
Xg.153955326T>ACA415126327HCFC1c.3073A>T (p.Thr1025Ser)
c.2875A>T (p.Thr959Ser)
c.2164A>T (p.Thr722Ser)
Xg.153955326T>CCA415126333HCFC1c.3073A>G (p.Thr1025Ala)
c.2875A>G (p.Thr959Ala)
c.2164A>G (p.Thr722Ala)
Xg.153955326T>GCA415126330HCFC1c.3073A>C (p.Thr1025Pro)
c.2875A>C (p.Thr959Pro)
c.2164A>C (p.Thr722Pro)
Xg.153955327G>ACA519702705HCFC1c.3072C>T (p.Gly1024=)
c.2874C>T (p.Gly958=)
c.2163C>T (p.Gly721=)
Xg.153955327G>CCA519702706HCFC1c.3072C>G (p.Gly1024=)
c.2874C>G (p.Gly958=)
c.2163C>G (p.Gly721=)
 dbSNP
Xg.153955327G>TCA519702707HCFC1c.3072C>A (p.Gly1024=)
c.2874C>A (p.Gly958=)
c.2163C>A (p.Gly721=)
Xg.153955328C>ACA415126335HCFC1c.3071G>T (p.Gly1024Val)
c.2873G>T (p.Gly958Val)
c.2162G>T (p.Gly721Val)
Xg.153955328C>GCA415126337HCFC1c.3071G>C (p.Gly1024Ala)
c.2873G>C (p.Gly958Ala)
c.2162G>C (p.Gly721Ala)
Xg.153955328C>TCA415126339HCFC1c.3071G>A (p.Gly1024Asp)
c.2873G>A (p.Gly958Asp)
c.2162G>A (p.Gly721Asp)
 gnomAD v4
Xg.153955329delCA2579735269HCFC1c.3071del (p.Gly1024AlafsTer?)
c.2873del (p.Gly958AlafsTer?)
c.2162del (p.Gly721AlafsTer?)
Xg.153955329C>ACA10557242HCFC1c.3070G>T (p.Gly1024Cys)
c.2872G>T (p.Gly958Cys)
c.2161G>T (p.Gly721Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153955329C=CA2466540502HCFC1c.3070G= (p.Gly1024=)
c.2872G= (p.Gly958=)
c.2161G= (p.Gly721=)
Xg.153955329C>GCA415126342HCFC1c.3070G>C (p.Gly1024Arg)
c.2872G>C (p.Gly958Arg)
c.2161G>C (p.Gly721Arg)
Xg.153955329C>TCA415126344HCFC1c.3070G>A (p.Gly1024Ser)
c.2872G>A (p.Gly958Ser)
c.2161G>A (p.Gly721Ser)
Xg.153955330A=CA2466540503HCFC1c.3069T= (p.Thr1023=)
c.2871T= (p.Thr957=)
c.2160T= (p.Thr720=)
Xg.153955330A>CCA519702710HCFC1c.3069T>G (p.Thr1023=)
c.2871T>G (p.Thr957=)
c.2160T>G (p.Thr720=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.153955330A>GCA519702709HCFC1c.3069T>C (p.Thr1023=)
c.2871T>C (p.Thr957=)
c.2160T>C (p.Thr720=)
Xg.153955330A>TCA519702708HCFC1c.3069T>A (p.Thr1023=)
c.2871T>A (p.Thr957=)
c.2160T>A (p.Thr720=)
 gnomAD v4

Number of alleles fetched