Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153955323_153955349delCA2824266500HCFC1c.3052_3078del (p.Cys1018_Thr1026del)
c.2854_2880del (p.Cys952_Thr960del)
c.2143_2169del (p.Cys715_Thr723del)
Xg.153955336G>ACA519702712HCFC1c.3063C>T (p.His1021=)
c.2865C>T (p.His955=)
c.2154C>T (p.His718=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955336G>CCA415126373HCFC1c.3063C>G (p.His1021Gln)
c.2865C>G (p.His955Gln)
c.2154C>G (p.His718Gln)
Xg.153955336G=CA2466540504HCFC1c.3063C= (p.His1021=)
c.2865C= (p.His955=)
c.2154C= (p.His718=)
Xg.153955336G>TCA415126376HCFC1c.3063C>A (p.His1021Gln)
c.2865C>A (p.His955Gln)
c.2154C>A (p.His718Gln)
Xg.153955337_153955339delCA2579735270HCFC1c.3061_3063del (p.His1021del)
c.2863_2865del (p.His955del)
c.2152_2154del (p.His718del)
Xg.153955337T>ACA415126379HCFC1c.3062A>T (p.His1021Leu)
c.2864A>T (p.His955Leu)
c.2153A>T (p.His718Leu)
Xg.153955337T>CCA415126381HCFC1c.3062A>G (p.His1021Arg)
c.2864A>G (p.His955Arg)
c.2153A>G (p.His718Arg)
Xg.153955337T>GCA415126383HCFC1c.3062A>C (p.His1021Pro)
c.2864A>C (p.His955Pro)
c.2153A>C (p.His718Pro)
Xg.153955338G>ACA415126385HCFC1c.3061C>T (p.His1021Tyr)
c.2863C>T (p.His955Tyr)
c.2152C>T (p.His718Tyr)
Xg.153955338G>CCA415126389HCFC1c.3061C>G (p.His1021Asp)
c.2863C>G (p.His955Asp)
c.2152C>G (p.His718Asp)
Xg.153955338G>TCA415126387HCFC1c.3061C>A (p.His1021Asn)
c.2863C>A (p.His955Asn)
c.2152C>A (p.His718Asn)
Xg.153955339G>ACA519702713HCFC1c.3060C>T (p.Thr1020=)
c.2862C>T (p.Thr954=)
c.2151C>T (p.Thr717=)
Xg.153955339G>CCA519702714HCFC1c.3060C>G (p.Thr1020=)
c.2862C>G (p.Thr954=)
c.2151C>G (p.Thr717=)
Xg.153955339G>TCA519702715HCFC1c.3060C>A (p.Thr1020=)
c.2862C>A (p.Thr954=)
c.2151C>A (p.Thr717=)
Xg.153955340G>ACA10557243HCFC1c.3059C>T (p.Thr1020Ile)
c.2861C>T (p.Thr954Ile)
c.2150C>T (p.Thr717Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153955340G>CCA415126393HCFC1c.3059C>G (p.Thr1020Ser)
c.2861C>G (p.Thr954Ser)
c.2150C>G (p.Thr717Ser)
Xg.153955340G=CA2466540505HCFC1c.3059C= (p.Thr1020=)
c.2861C= (p.Thr954=)
c.2150C= (p.Thr717=)
Xg.153955340G>TCA415126395HCFC1c.3059C>A (p.Thr1020Asn)
c.2861C>A (p.Thr954Asn)
c.2150C>A (p.Thr717Asn)
Xg.153955341T>ACA415126398HCFC1c.3058A>T (p.Thr1020Ser)
c.2860A>T (p.Thr954Ser)
c.2149A>T (p.Thr717Ser)
Xg.153955341T>CCA415126400HCFC1c.3058A>G (p.Thr1020Ala)
c.2860A>G (p.Thr954Ala)
c.2149A>G (p.Thr717Ala)
Xg.153955341T>GCA415126403HCFC1c.3058A>C (p.Thr1020Pro)
c.2860A>C (p.Thr954Pro)
c.2149A>C (p.Thr717Pro)
Xg.153955342C>ACA415126406HCFC1c.3057G>T (p.Glu1019Asp)
c.2859G>T (p.Glu953Asp)
c.2148G>T (p.Glu716Asp)
Xg.153955342C>GCA415126409HCFC1c.3057G>C (p.Glu1019Asp)
c.2859G>C (p.Glu953Asp)
c.2148G>C (p.Glu716Asp)
Xg.153955342C>TCA519702716HCFC1c.3057G>A (p.Glu1019=)
c.2859G>A (p.Glu953=)
c.2148G>A (p.Glu716=)
Xg.153955343T>ACA415126412HCFC1c.3056A>T (p.Glu1019Val)
c.2858A>T (p.Glu953Val)
c.2147A>T (p.Glu716Val)
Xg.153955343T>CCA415126415HCFC1c.3056A>G (p.Glu1019Gly)
c.2858A>G (p.Glu953Gly)
c.2147A>G (p.Glu716Gly)
Xg.153955343T>GCA415126418HCFC1c.3056A>C (p.Glu1019Ala)
c.2858A>C (p.Glu953Ala)
c.2147A>C (p.Glu716Ala)
Xg.153955344C>ACA415126420HCFC1c.3055G>T (p.Glu1019Ter)
c.2857G>T (p.Glu953Ter)
c.2146G>T (p.Glu716Ter)
Xg.153955344C>GCA415126427HCFC1c.3055G>C (p.Glu1019Gln)
c.2857G>C (p.Glu953Gln)
c.2146G>C (p.Glu716Gln)
Xg.153955344C>TCA415126423HCFC1c.3055G>A (p.Glu1019Lys)
c.2857G>A (p.Glu953Lys)
c.2146G>A (p.Glu716Lys)
Xg.153955345A>CCA415126429HCFC1c.3054T>G (p.Cys1018Trp)
c.2856T>G (p.Cys952Trp)
c.2145T>G (p.Cys715Trp)
Xg.153955345A>GCA519702717HCFC1c.3054T>C (p.Cys1018=)
c.2856T>C (p.Cys952=)
c.2145T>C (p.Cys715=)
 gnomAD v3 gnomAD v4
Xg.153955345A>TCA415126431HCFC1c.3054T>A (p.Cys1018Ter)
c.2856T>A (p.Cys952Ter)
c.2145T>A (p.Cys715Ter)
Xg.153955346C>ACA415126435HCFC1c.3053G>T (p.Cys1018Phe)
c.2855G>T (p.Cys952Phe)
c.2144G>T (p.Cys715Phe)
Xg.153955346C>GCA415126437HCFC1c.3053G>C (p.Cys1018Ser)
c.2855G>C (p.Cys952Ser)
c.2144G>C (p.Cys715Ser)
Xg.153955346C>TCA415126440HCFC1c.3053G>A (p.Cys1018Tyr)
c.2855G>A (p.Cys952Tyr)
c.2144G>A (p.Cys715Tyr)
Xg.153955347A>CCA415126443HCFC1c.3052T>G (p.Cys1018Gly)
c.2854T>G (p.Cys952Gly)
c.2143T>G (p.Cys715Gly)
Xg.153955347A>GCA415126446HCFC1c.3052T>C (p.Cys1018Arg)
c.2854T>C (p.Cys952Arg)
c.2143T>C (p.Cys715Arg)
Xg.153955347A>TCA415126450HCFC1c.3052T>A (p.Cys1018Ser)
c.2854T>A (p.Cys952Ser)
c.2143T>A (p.Cys715Ser)
Xg.153955348G>ACA519702718HCFC1c.3051C>T (p.Pro1017=)
c.2853C>T (p.Pro951=)
c.2142C>T (p.Pro714=)
 gnomAD v4
Xg.153955348G>CCA519702719HCFC1c.3051C>G (p.Pro1017=)
c.2853C>G (p.Pro951=)
c.2142C>G (p.Pro714=)
Xg.153955348G>TCA519702720HCFC1c.3051C>A (p.Pro1017=)
c.2853C>A (p.Pro951=)
c.2142C>A (p.Pro714=)
Xg.153955349G>ACA415126452HCFC1c.3050C>T (p.Pro1017Leu)
c.2852C>T (p.Pro951Leu)
c.2141C>T (p.Pro714Leu)
Xg.153955349G>CCA415126454HCFC1c.3050C>G (p.Pro1017Arg)
c.2852C>G (p.Pro951Arg)
c.2141C>G (p.Pro714Arg)
Xg.153955349G>TCA415126456HCFC1c.3050C>A (p.Pro1017His)
c.2852C>A (p.Pro951His)
c.2141C>A (p.Pro714His)
Xg.153955350G>ACA415126464HCFC1c.3049C>T (p.Pro1017Ser)
c.2851C>T (p.Pro951Ser)
c.2140C>T (p.Pro714Ser)
Xg.153955350G>CCA415126460HCFC1c.3049C>G (p.Pro1017Ala)
c.2851C>G (p.Pro951Ala)
c.2140C>G (p.Pro714Ala)
Xg.153955350G>TCA415126459HCFC1c.3049C>A (p.Pro1017Thr)
c.2851C>A (p.Pro951Thr)
c.2140C>A (p.Pro714Thr)
Xg.153955351T>ACA519702721HCFC1c.3048A>T (p.Pro1016=)
c.2850A>T (p.Pro950=)
c.2139A>T (p.Pro713=)
Xg.153955351T>CCA519702723HCFC1c.3048A>G (p.Pro1016=)
c.2850A>G (p.Pro950=)
c.2139A>G (p.Pro713=)
 gnomAD v3 gnomAD v4
Xg.153955351T>GCA519702722HCFC1c.3048A>C (p.Pro1016=)
c.2850A>C (p.Pro950=)
c.2139A>C (p.Pro713=)
Xg.153955352G>ACA415126468HCFC1c.3047C>T (p.Pro1016Leu)
c.2849C>T (p.Pro950Leu)
c.2138C>T (p.Pro713Leu)
Xg.153955352G>CCA415126470HCFC1c.3047C>G (p.Pro1016Arg)
c.2849C>G (p.Pro950Arg)
c.2138C>G (p.Pro713Arg)
Xg.153955352G>TCA415126472HCFC1c.3047C>A (p.Pro1016Gln)
c.2849C>A (p.Pro950Gln)
c.2138C>A (p.Pro713Gln)
Xg.153955353G>ACA415126474HCFC1c.3046C>T (p.Pro1016Ser)
c.2848C>T (p.Pro950Ser)
c.2137C>T (p.Pro713Ser)
Xg.153955353G>CCA415126477HCFC1c.3046C>G (p.Pro1016Ala)
c.2848C>G (p.Pro950Ala)
c.2137C>G (p.Pro713Ala)
 gnomAD v4
Xg.153955353G>TCA415126480HCFC1c.3046C>A (p.Pro1016Thr)
c.2848C>A (p.Pro950Thr)
c.2137C>A (p.Pro713Thr)
Xg.153955354G>ACA519702724HCFC1c.3045C>T (p.Asn1015=)
c.2847C>T (p.Asn949=)
c.2136C>T (p.Asn712=)
Xg.153955354G>CCA415126483HCFC1c.3045C>G (p.Asn1015Lys)
c.2847C>G (p.Asn949Lys)
c.2136C>G (p.Asn712Lys)
Xg.153955354G>TCA415126486HCFC1c.3045C>A (p.Asn1015Lys)
c.2847C>A (p.Asn949Lys)
c.2136C>A (p.Asn712Lys)
Xg.153955355T>ACA415126488HCFC1c.3044A>T (p.Asn1015Ile)
c.2846A>T (p.Asn949Ile)
c.2135A>T (p.Asn712Ile)
Xg.153955355T>CCA415126490HCFC1c.3044A>G (p.Asn1015Ser)
c.2846A>G (p.Asn949Ser)
c.2135A>G (p.Asn712Ser)
Xg.153955355T>GCA415126493HCFC1c.3044A>C (p.Asn1015Thr)
c.2846A>C (p.Asn949Thr)
c.2135A>C (p.Asn712Thr)
Xg.153955356T>ACA415126503HCFC1c.3043A>T (p.Asn1015Tyr)
c.2845A>T (p.Asn949Tyr)
c.2134A>T (p.Asn712Tyr)
Xg.153955356T>CCA415126497HCFC1c.3043A>G (p.Asn1015Asp)
c.2845A>G (p.Asn949Asp)
c.2134A>G (p.Asn712Asp)
Xg.153955356T>GCA415126495HCFC1c.3043A>C (p.Asn1015His)
c.2845A>C (p.Asn949His)
c.2134A>C (p.Asn712His)
Xg.153955357G>ACA519702725HCFC1c.3042C>T (p.Ser1014=)
c.2844C>T (p.Ser948=)
c.2133C>T (p.Ser711=)
 gnomAD v4
Xg.153955357G>CCA10557244HCFC1c.3042C>G (p.Ser1014=)
c.2844C>G (p.Ser948=)
c.2133C>G (p.Ser711=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153955357G=CA2466540506HCFC1c.3042C= (p.Ser1014=)
c.2844C= (p.Ser948=)
c.2133C= (p.Ser711=)
Xg.153955357G>TCA519702726HCFC1c.3042C>A (p.Ser1014=)
c.2844C>A (p.Ser948=)
c.2133C>A (p.Ser711=)
Xg.153955357_153955412delCA2824266501HCFC1c.2987_3042del (p.Ile996LysfsTer5)
c.2789_2844del (p.Ile930LysfsTer5)
c.2078_2133del (p.Ile693LysfsTer5)
Xg.153955358G>ACA415126505HCFC1c.3041C>T (p.Ser1014Phe)
c.2843C>T (p.Ser948Phe)
c.2132C>T (p.Ser711Phe)
Xg.153955358G>CCA415126504HCFC1c.3041C>G (p.Ser1014Cys)
c.2843C>G (p.Ser948Cys)
c.2132C>G (p.Ser711Cys)
Xg.153955358G>TCA415126507HCFC1c.3041C>A (p.Ser1014Tyr)
c.2843C>A (p.Ser948Tyr)
c.2132C>A (p.Ser711Tyr)
Xg.153955359A>CCA415126509HCFC1c.3040T>G (p.Ser1014Ala)
c.2842T>G (p.Ser948Ala)
c.2131T>G (p.Ser711Ala)
Xg.153955359A>GCA415126511HCFC1c.3040T>C (p.Ser1014Pro)
c.2842T>C (p.Ser948Pro)
c.2131T>C (p.Ser711Pro)
Xg.153955359A>TCA415126512HCFC1c.3040T>A (p.Ser1014Thr)
c.2842T>A (p.Ser948Thr)
c.2131T>A (p.Ser711Thr)
Xg.153955360G>ACA519702727HCFC1c.3039C>T (p.Cys1013=)
c.2841C>T (p.Cys947=)
c.2130C>T (p.Cys710=)
Xg.153955360G>CCA415126515HCFC1c.3039C>G (p.Cys1013Trp)
c.2841C>G (p.Cys947Trp)
c.2130C>G (p.Cys710Trp)
Xg.153955360G>TCA415126516HCFC1c.3039C>A (p.Cys1013Ter)
c.2841C>A (p.Cys947Ter)
c.2130C>A (p.Cys710Ter)
Xg.153955361C>ACA415126518HCFC1c.3038G>T (p.Cys1013Phe)
c.2840G>T (p.Cys947Phe)
c.2129G>T (p.Cys710Phe)
Xg.153955361C=CA2466540507HCFC1c.3038G= (p.Cys1013=)
c.2840G= (p.Cys947=)
c.2129G= (p.Cys710=)
Xg.153955361C>GCA415126520HCFC1c.3038G>C (p.Cys1013Ser)
c.2840G>C (p.Cys947Ser)
c.2129G>C (p.Cys710Ser)
Xg.153955361C>TCA415126522HCFC1c.3038G>A (p.Cys1013Tyr)
c.2840G>A (p.Cys947Tyr)
c.2129G>A (p.Cys710Tyr)
 dbSNP
Xg.153955362A>CCA415126524HCFC1c.3037T>G (p.Cys1013Gly)
c.2839T>G (p.Cys947Gly)
c.2128T>G (p.Cys710Gly)
Xg.153955362A>GCA415126526HCFC1c.3037T>C (p.Cys1013Arg)
c.2839T>C (p.Cys947Arg)
c.2128T>C (p.Cys710Arg)
Xg.153955362A>TCA415126528HCFC1c.3037T>A (p.Cys1013Ser)
c.2839T>A (p.Cys947Ser)
c.2128T>A (p.Cys710Ser)
Xg.153955363C>ACA519702728HCFC1c.3036G>T (p.Val1012=)
c.2838G>T (p.Val946=)
c.2127G>T (p.Val709=)
Xg.153955363C>GCA519702729HCFC1c.3036G>C (p.Val1012=)
c.2838G>C (p.Val946=)
c.2127G>C (p.Val709=)
Xg.153955363C>TCA519702730HCFC1c.3036G>A (p.Val1012=)
c.2838G>A (p.Val946=)
c.2127G>A (p.Val709=)
Xg.153955364A>CCA415126534HCFC1c.3035T>G (p.Val1012Gly)
c.2837T>G (p.Val946Gly)
c.2126T>G (p.Val709Gly)
Xg.153955364A>GCA415126530HCFC1c.3035T>C (p.Val1012Ala)
c.2837T>C (p.Val946Ala)
c.2126T>C (p.Val709Ala)
Xg.153955364A>TCA415126532HCFC1c.3035T>A (p.Val1012Glu)
c.2837T>A (p.Val946Glu)
c.2126T>A (p.Val709Glu)
Xg.153955365C>ACA415126536HCFC1c.3034G>T (p.Val1012Leu)
c.2836G>T (p.Val946Leu)
c.2125G>T (p.Val709Leu)
Xg.153955365C>GCA415126538HCFC1c.3034G>C (p.Val1012Leu)
c.2836G>C (p.Val946Leu)
c.2125G>C (p.Val709Leu)
Xg.153955365C>TCA415126539HCFC1c.3034G>A (p.Val1012Met)
c.2836G>A (p.Val946Met)
c.2125G>A (p.Val709Met)
 gnomAD v4
Xg.153955366C>ACA415126541HCFC1c.3033G>T (p.Leu1011Phe)
c.2835G>T (p.Leu945Phe)
c.2124G>T (p.Leu708Phe)
 gnomAD v4
Xg.153955366C>GCA415126544HCFC1c.3033G>C (p.Leu1011Phe)
c.2835G>C (p.Leu945Phe)
c.2124G>C (p.Leu708Phe)
Xg.153955366C>TCA519702731HCFC1c.3033G>A (p.Leu1011=)
c.2835G>A (p.Leu945=)
c.2124G>A (p.Leu708=)
Xg.153955367A>CCA415126545HCFC1c.3032T>G (p.Leu1011Trp)
c.2834T>G (p.Leu945Trp)
c.2123T>G (p.Leu708Trp)
Xg.153955367A>GCA415126547HCFC1c.3032T>C (p.Leu1011Ser)
c.2834T>C (p.Leu945Ser)
c.2123T>C (p.Leu708Ser)
Xg.153955367A>TCA415126548HCFC1c.3032T>A (p.Leu1011Ter)
c.2834T>A (p.Leu945Ter)
c.2123T>A (p.Leu708Ter)
Xg.153955368A>CCA415126550HCFC1c.3031T>G (p.Leu1011Val)
c.2833T>G (p.Leu945Val)
c.2122T>G (p.Leu708Val)
Xg.153955368A>GCA519702732HCFC1c.3031T>C (p.Leu1011=)
c.2833T>C (p.Leu945=)
c.2122T>C (p.Leu708=)
Xg.153955368A>TCA415126551HCFC1c.3031T>A (p.Leu1011Met)
c.2833T>A (p.Leu945Met)
c.2122T>A (p.Leu708Met)
Xg.153955369G>ACA519702733HCFC1c.3030C>T (p.Thr1010=)
c.2832C>T (p.Thr944=)
c.2121C>T (p.Thr707=)
Xg.153955369G>CCA519702734HCFC1c.3030C>G (p.Thr1010=)
c.2832C>G (p.Thr944=)
c.2121C>G (p.Thr707=)
Xg.153955369G>TCA519702735HCFC1c.3030C>A (p.Thr1010=)
c.2832C>A (p.Thr944=)
c.2121C>A (p.Thr707=)
Xg.153955370G>ACA415126558HCFC1c.3029C>T (p.Thr1010Ile)
c.2831C>T (p.Thr944Ile)
c.2120C>T (p.Thr707Ile)
Xg.153955370G>CCA415126556HCFC1c.3029C>G (p.Thr1010Ser)
c.2831C>G (p.Thr944Ser)
c.2120C>G (p.Thr707Ser)
Xg.153955370G>TCA415126555HCFC1c.3029C>A (p.Thr1010Asn)
c.2831C>A (p.Thr944Asn)
c.2120C>A (p.Thr707Asn)
Xg.153955371T>ACA415126561HCFC1c.3028A>T (p.Thr1010Ser)
c.2830A>T (p.Thr944Ser)
c.2119A>T (p.Thr707Ser)
Xg.153955371T>CCA415126563HCFC1c.3028A>G (p.Thr1010Ala)
c.2830A>G (p.Thr944Ala)
c.2119A>G (p.Thr707Ala)
Xg.153955371T>GCA415126564HCFC1c.3028A>C (p.Thr1010Pro)
c.2830A>C (p.Thr944Pro)
c.2119A>C (p.Thr707Pro)
Xg.153955372G>ACA519702736HCFC1c.3027C>T (p.Val1009=)
c.2829C>T (p.Val943=)
c.2118C>T (p.Val706=)
Xg.153955372G>CCA519702738HCFC1c.3027C>G (p.Val1009=)
c.2829C>G (p.Val943=)
c.2118C>G (p.Val706=)
Xg.153955372G>TCA519702737HCFC1c.3027C>A (p.Val1009=)
c.2829C>A (p.Val943=)
c.2118C>A (p.Val706=)
Xg.153955373A>CCA415126567HCFC1c.3026T>G (p.Val1009Gly)
c.2828T>G (p.Val943Gly)
c.2117T>G (p.Val706Gly)
Xg.153955373A>GCA415126568HCFC1c.3026T>C (p.Val1009Ala)
c.2828T>C (p.Val943Ala)
c.2117T>C (p.Val706Ala)
Xg.153955373A>TCA415126570HCFC1c.3026T>A (p.Val1009Asp)
c.2828T>A (p.Val943Asp)
c.2117T>A (p.Val706Asp)
Xg.153955374C>ACA415126573HCFC1c.3025G>T (p.Val1009Phe)
c.2827G>T (p.Val943Phe)
c.2116G>T (p.Val706Phe)
Xg.153955374C>GCA415126574HCFC1c.3025G>C (p.Val1009Leu)
c.2827G>C (p.Val943Leu)
c.2116G>C (p.Val706Leu)
Xg.153955374C>TCA415126577HCFC1c.3025G>A (p.Val1009Ile)
c.2827G>A (p.Val943Ile)
c.2116G>A (p.Val706Ile)
 COSMIC COSMIC
Xg.153955375A>CCA519702739HCFC1c.3024T>G (p.Thr1008=)
c.2826T>G (p.Thr942=)
c.2115T>G (p.Thr705=)
Xg.153955375A>GCA519702740HCFC1c.3024T>C (p.Thr1008=)
c.2826T>C (p.Thr942=)
c.2115T>C (p.Thr705=)
Xg.153955375A>TCA519702741HCFC1c.3024T>A (p.Thr1008=)
c.2826T>A (p.Thr942=)
c.2115T>A (p.Thr705=)
Xg.153955376G>ACA415126579HCFC1c.3023C>T (p.Thr1008Ile)
c.2825C>T (p.Thr942Ile)
c.2114C>T (p.Thr705Ile)
 gnomAD v4
Xg.153955376G>CCA415126580HCFC1c.3023C>G (p.Thr1008Ser)
c.2825C>G (p.Thr942Ser)
c.2114C>G (p.Thr705Ser)
 gnomAD v4
Xg.153955376G>TCA415126582HCFC1c.3023C>A (p.Thr1008Asn)
c.2825C>A (p.Thr942Asn)
c.2114C>A (p.Thr705Asn)
Xg.153955377T>ACA415126588HCFC1c.3022A>T (p.Thr1008Ser)
c.2824A>T (p.Thr942Ser)
c.2113A>T (p.Thr705Ser)
Xg.153955377T>CCA415126585HCFC1c.3022A>G (p.Thr1008Ala)
c.2824A>G (p.Thr942Ala)
c.2113A>G (p.Thr705Ala)
Xg.153955377T>GCA415126586HCFC1c.3022A>C (p.Thr1008Pro)
c.2824A>C (p.Thr942Pro)
c.2113A>C (p.Thr705Pro)
Xg.153955378G>ACA519702742HCFC1c.3021C>T (p.Gly1007=)
c.2823C>T (p.Gly941=)
c.2112C>T (p.Gly704=)
 gnomAD v4
Xg.153955378G>CCA519702743HCFC1c.3021C>G (p.Gly1007=)
c.2823C>G (p.Gly941=)
c.2112C>G (p.Gly704=)
Xg.153955378G>TCA519702744HCFC1c.3021C>A (p.Gly1007=)
c.2823C>A (p.Gly941=)
c.2112C>A (p.Gly704=)
 gnomAD v4
Xg.153955379C>ACA415126590HCFC1c.3020G>T (p.Gly1007Val)
c.2822G>T (p.Gly941Val)
c.2111G>T (p.Gly704Val)
Xg.153955379C>GCA415126592HCFC1c.3020G>C (p.Gly1007Ala)
c.2822G>C (p.Gly941Ala)
c.2111G>C (p.Gly704Ala)
Xg.153955379C>TCA415126594HCFC1c.3020G>A (p.Gly1007Asp)
c.2822G>A (p.Gly941Asp)
c.2111G>A (p.Gly704Asp)
Xg.153955380C>ACA415126596HCFC1c.3019G>T (p.Gly1007Cys)
c.2821G>T (p.Gly941Cys)
c.2110G>T (p.Gly704Cys)
Xg.153955380C>GCA415126598HCFC1c.3019G>C (p.Gly1007Arg)
c.2821G>C (p.Gly941Arg)
c.2110G>C (p.Gly704Arg)
Xg.153955380C>TCA415126599HCFC1c.3019G>A (p.Gly1007Ser)
c.2821G>A (p.Gly941Ser)
c.2110G>A (p.Gly704Ser)
Xg.153955381A=CA2466540508HCFC1c.3018T= (p.Pro1006=)
c.2820T= (p.Pro940=)
c.2109T= (p.Pro703=)
Xg.153955381A>CCA519702745HCFC1c.3018T>G (p.Pro1006=)
c.2820T>G (p.Pro940=)
c.2109T>G (p.Pro703=)
 ClinVar
Xg.153955381A>GCA10557245HCFC1c.3018T>C (p.Pro1006=)
c.2820T>C (p.Pro940=)
c.2109T>C (p.Pro703=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955381A>TCA519702746HCFC1c.3018T>A (p.Pro1006=)
c.2820T>A (p.Pro940=)
c.2109T>A (p.Pro703=)
Xg.153955382G>ACA415126602HCFC1c.3017C>T (p.Pro1006Leu)
c.2819C>T (p.Pro940Leu)
c.2108C>T (p.Pro703Leu)
Xg.153955382G>CCA415126605HCFC1c.3017C>G (p.Pro1006Arg)
c.2819C>G (p.Pro940Arg)
c.2108C>G (p.Pro703Arg)
Xg.153955382G>TCA415126606HCFC1c.3017C>A (p.Pro1006His)
c.2819C>A (p.Pro940His)
c.2108C>A (p.Pro703His)
Xg.153955383G>ACA415126612HCFC1c.3016C>T (p.Pro1006Ser)
c.2818C>T (p.Pro940Ser)
c.2107C>T (p.Pro703Ser)
 dbSNP gnomAD v4
Xg.153955383G>CCA415126610HCFC1c.3016C>G (p.Pro1006Ala)
c.2818C>G (p.Pro940Ala)
c.2107C>G (p.Pro703Ala)
Xg.153955383G=CA2466540509HCFC1c.3016C= (p.Pro1006=)
c.2818C= (p.Pro940=)
c.2107C= (p.Pro703=)
Xg.153955383G>TCA415126608HCFC1c.3016C>A (p.Pro1006Thr)
c.2818C>A (p.Pro940Thr)
c.2107C>A (p.Pro703Thr)
Xg.153955384C>ACA415126614HCFC1c.3015G>T (p.Gln1005His)
c.2817G>T (p.Gln939His)
c.2106G>T (p.Gln702His)
 gnomAD v4
Xg.153955384C>GCA415126616HCFC1c.3015G>C (p.Gln1005His)
c.2817G>C (p.Gln939His)
c.2106G>C (p.Gln702His)
Xg.153955384C>TCA519702747HCFC1c.3015G>A (p.Gln1005=)
c.2817G>A (p.Gln939=)
c.2106G>A (p.Gln702=)
Xg.153955385T>ACA415126618HCFC1c.3014A>T (p.Gln1005Leu)
c.2816A>T (p.Gln939Leu)
c.2105A>T (p.Gln702Leu)
Xg.153955385T>CCA415126620HCFC1c.3014A>G (p.Gln1005Arg)
c.2816A>G (p.Gln939Arg)
c.2105A>G (p.Gln702Arg)
Xg.153955385T>GCA415126622HCFC1c.3014A>C (p.Gln1005Pro)
c.2816A>C (p.Gln939Pro)
c.2105A>C (p.Gln702Pro)
Xg.153955386G>ACA415126624HCFC1c.3013C>T (p.Gln1005Ter)
c.2815C>T (p.Gln939Ter)
c.2104C>T (p.Gln702Ter)
Xg.153955386G>CCA415126625HCFC1c.3013C>G (p.Gln1005Glu)
c.2815C>G (p.Gln939Glu)
c.2104C>G (p.Gln702Glu)
Xg.153955386G>TCA415126627HCFC1c.3013C>A (p.Gln1005Lys)
c.2815C>A (p.Gln939Lys)
c.2104C>A (p.Gln702Lys)
Xg.153955387C>ACA519702748HCFC1c.3012G>T (p.Val1004=)
c.2814G>T (p.Val938=)
c.2103G>T (p.Val701=)
Xg.153955387C>GCA519702749HCFC1c.3012G>C (p.Val1004=)
c.2814G>C (p.Val938=)
c.2103G>C (p.Val701=)
Xg.153955387C>TCA519702750HCFC1c.3012G>A (p.Val1004=)
c.2814G>A (p.Val938=)
c.2103G>A (p.Val701=)
Xg.153955388A>CCA415126630HCFC1c.3011T>G (p.Val1004Gly)
c.2813T>G (p.Val938Gly)
c.2102T>G (p.Val701Gly)
 gnomAD v4
Xg.153955388A>GCA415126632HCFC1c.3011T>C (p.Val1004Ala)
c.2813T>C (p.Val938Ala)
c.2102T>C (p.Val701Ala)
Xg.153955388A>TCA415126634HCFC1c.3011T>A (p.Val1004Glu)
c.2813T>A (p.Val938Glu)
c.2102T>A (p.Val701Glu)
Xg.153955389C>ACA415126636HCFC1c.3010G>T (p.Val1004Leu)
c.2812G>T (p.Val938Leu)
c.2101G>T (p.Val701Leu)
Xg.153955389C=CA2466540510HCFC1c.3010G= (p.Val1004=)
c.2812G= (p.Val938=)
c.2101G= (p.Val701=)
Xg.153955389C>GCA415126638HCFC1c.3010G>C (p.Val1004Leu)
c.2812G>C (p.Val938Leu)
c.2101G>C (p.Val701Leu)
Xg.153955389C>TCA415126640HCFC1c.3010G>A (p.Val1004Met)
c.2812G>A (p.Val938Met)
c.2101G>A (p.Val701Met)
 dbSNP
Xg.153955390A=CA2466540511HCFC1c.3009T= (p.Asp1003=)
c.2811T= (p.Asp937=)
c.2100T= (p.Asp700=)
Xg.153955390A>CCA10557246HCFC1c.3009T>G (p.Asp1003Glu)
c.2811T>G (p.Asp937Glu)
c.2100T>G (p.Asp700Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955390A>GCA519702751HCFC1c.3009T>C (p.Asp1003=)
c.2811T>C (p.Asp937=)
c.2100T>C (p.Asp700=)
Xg.153955390A>TCA415126642HCFC1c.3009T>A (p.Asp1003Glu)
c.2811T>A (p.Asp937Glu)
c.2100T>A (p.Asp700Glu)
Xg.153955391T>ACA415126645HCFC1c.3008A>T (p.Asp1003Val)
c.2810A>T (p.Asp937Val)
c.2099A>T (p.Asp700Val)
Xg.153955391T>CCA415126646HCFC1c.3008A>G (p.Asp1003Gly)
c.2810A>G (p.Asp937Gly)
c.2099A>G (p.Asp700Gly)
 dbSNP
Xg.153955391T>GCA415126648HCFC1c.3008A>C (p.Asp1003Ala)
c.2810A>C (p.Asp937Ala)
c.2099A>C (p.Asp700Ala)
Xg.153955392C>ACA415126651HCFC1c.3007G>T (p.Asp1003Tyr)
c.2809G>T (p.Asp937Tyr)
c.2098G>T (p.Asp700Tyr)
Xg.153955392C>GCA415126652HCFC1c.3007G>C (p.Asp1003His)
c.2809G>C (p.Asp937His)
c.2098G>C (p.Asp700His)
Xg.153955392C>TCA415126653HCFC1c.3007G>A (p.Asp1003Asn)
c.2809G>A (p.Asp937Asn)
c.2098G>A (p.Asp700Asn)
Xg.153955393A>CCA519702752HCFC1c.3006T>G (p.Gly1002=)
c.2808T>G (p.Gly936=)
c.2097T>G (p.Gly699=)
Xg.153955393A>GCA519702754HCFC1c.3006T>C (p.Gly1002=)
c.2808T>C (p.Gly936=)
c.2097T>C (p.Gly699=)
Xg.153955393A>TCA519702753HCFC1c.3006T>A (p.Gly1002=)
c.2808T>A (p.Gly936=)
c.2097T>A (p.Gly699=)
Xg.153955394C>ACA415126654HCFC1c.3005G>T (p.Gly1002Val)
c.2807G>T (p.Gly936Val)
c.2096G>T (p.Gly699Val)
Xg.153955394C=CA2466540512HCFC1c.3005G= (p.Gly1002=)
c.2807G= (p.Gly936=)
c.2096G= (p.Gly699=)
Xg.153955394C>GCA415126656HCFC1c.3005G>C (p.Gly1002Ala)
c.2807G>C (p.Gly936Ala)
c.2096G>C (p.Gly699Ala)
Xg.153955394C>TCA415126658HCFC1c.3005G>A (p.Gly1002Asp)
c.2807G>A (p.Gly936Asp)
c.2096G>A (p.Gly699Asp)
 dbSNP gnomAD v4
Xg.153955395C>ACA415126660HCFC1c.3004G>T (p.Gly1002Cys)
c.2806G>T (p.Gly936Cys)
c.2095G>T (p.Gly699Cys)
Xg.153955395C>GCA415126662HCFC1c.3004G>C (p.Gly1002Arg)
c.2806G>C (p.Gly936Arg)
c.2095G>C (p.Gly699Arg)
Xg.153955395C>TCA415126664HCFC1c.3004G>A (p.Gly1002Ser)
c.2806G>A (p.Gly936Ser)
c.2095G>A (p.Gly699Ser)
 gnomAD v4
Xg.153955396C>ACA415126666HCFC1c.3003G>T (p.Gln1001His)
c.2805G>T (p.Gln935His)
c.2094G>T (p.Gln698His)
Xg.153955396C>GCA415126668HCFC1c.3003G>C (p.Gln1001His)
c.2805G>C (p.Gln935His)
c.2094G>C (p.Gln698His)
Xg.153955396C>TCA519702755HCFC1c.3003G>A (p.Gln1001=)
c.2805G>A (p.Gln935=)
c.2094G>A (p.Gln698=)
Xg.153955397T>ACA415126671HCFC1c.3002A>T (p.Gln1001Leu)
c.2804A>T (p.Gln935Leu)
c.2093A>T (p.Gln698Leu)
Xg.153955397T>CCA415126673HCFC1c.3002A>G (p.Gln1001Arg)
c.2804A>G (p.Gln935Arg)
c.2093A>G (p.Gln698Arg)
Xg.153955397T>GCA415126675HCFC1c.3002A>C (p.Gln1001Pro)
c.2804A>C (p.Gln935Pro)
c.2093A>C (p.Gln698Pro)
Xg.153955398G>ACA415126677HCFC1c.3001C>T (p.Gln1001Ter)
c.2803C>T (p.Gln935Ter)
c.2092C>T (p.Gln698Ter)
Xg.153955398G>CCA415126679HCFC1c.3001C>G (p.Gln1001Glu)
c.2803C>G (p.Gln935Glu)
c.2092C>G (p.Gln698Glu)
Xg.153955398G>TCA415126681HCFC1c.3001C>A (p.Gln1001Lys)
c.2803C>A (p.Gln935Lys)
c.2092C>A (p.Gln698Lys)
Xg.153955399G>ACA519702756HCFC1c.3000C>T (p.Gly1000=)
c.2802C>T (p.Gly934=)
c.2091C>T (p.Gly697=)
Xg.153955399G>CCA519702757HCFC1c.3000C>G (p.Gly1000=)
c.2802C>G (p.Gly934=)
c.2091C>G (p.Gly697=)
Xg.153955399G>TCA519702758HCFC1c.3000C>A (p.Gly1000=)
c.2802C>A (p.Gly934=)
c.2091C>A (p.Gly697=)
Xg.153955400C>ACA415126682HCFC1c.2999G>T (p.Gly1000Val)
c.2801G>T (p.Gly934Val)
c.2090G>T (p.Gly697Val)
Xg.153955400C>GCA415126684HCFC1c.2999G>C (p.Gly1000Ala)
c.2801G>C (p.Gly934Ala)
c.2090G>C (p.Gly697Ala)
Xg.153955400C>TCA415126685HCFC1c.2999G>A (p.Gly1000Asp)
c.2801G>A (p.Gly934Asp)
c.2090G>A (p.Gly697Asp)
 COSMIC COSMIC
Xg.153955401C>ACA415126686HCFC1c.2998G>T (p.Gly1000Cys)
c.2800G>T (p.Gly934Cys)
c.2089G>T (p.Gly697Cys)
Xg.153955401C>GCA415126688HCFC1c.2998G>C (p.Gly1000Arg)
c.2800G>C (p.Gly934Arg)
c.2089G>C (p.Gly697Arg)
Xg.153955401C>TCA415126690HCFC1c.2998G>A (p.Gly1000Ser)
c.2800G>A (p.Gly934Ser)
c.2089G>A (p.Gly697Ser)
Xg.153955402T>ACA519702759HCFC1c.2997A>T (p.Ser999=)
c.2799A>T (p.Ser933=)
c.2088A>T (p.Ser696=)
Xg.153955402T>CCA519702760HCFC1c.2997A>G (p.Ser999=)
c.2799A>G (p.Ser933=)
c.2088A>G (p.Ser696=)
Xg.153955402T>GCA519702761HCFC1c.2997A>C (p.Ser999=)
c.2799A>C (p.Ser933=)
c.2088A>C (p.Ser696=)
Xg.153955403G>ACA415126696HCFC1c.2996C>T (p.Ser999Leu)
c.2798C>T (p.Ser933Leu)
c.2087C>T (p.Ser696Leu)
Xg.153955403G>CCA415126692HCFC1c.2996C>G (p.Ser999Ter)
c.2798C>G (p.Ser933Ter)
c.2087C>G (p.Ser696Ter)
Xg.153955403G>TCA415126694HCFC1c.2996C>A (p.Ser999Ter)
c.2798C>A (p.Ser933Ter)
c.2087C>A (p.Ser696Ter)
Xg.153955404A>CCA415126698HCFC1c.2995T>G (p.Ser999Ala)
c.2797T>G (p.Ser933Ala)
c.2086T>G (p.Ser696Ala)
Xg.153955404A>GCA415126700HCFC1c.2995T>C (p.Ser999Pro)
c.2797T>C (p.Ser933Pro)
c.2086T>C (p.Ser696Pro)
Xg.153955404A>TCA415126702HCFC1c.2995T>A (p.Ser999Thr)
c.2797T>A (p.Ser933Thr)
c.2086T>A (p.Ser696Thr)
Xg.153955405G>ACA519702762HCFC1c.2994C>T (p.Asp998=)
c.2796C>T (p.Asp932=)
c.2085C>T (p.Asp695=)
Xg.153955405G>CCA415126703HCFC1c.2994C>G (p.Asp998Glu)
c.2796C>G (p.Asp932Glu)
c.2085C>G (p.Asp695Glu)
Xg.153955405G>TCA415126705HCFC1c.2994C>A (p.Asp998Glu)
c.2796C>A (p.Asp932Glu)
c.2085C>A (p.Asp695Glu)
Xg.153955406T>ACA415126707HCFC1c.2993A>T (p.Asp998Val)
c.2795A>T (p.Asp932Val)
c.2084A>T (p.Asp695Val)
Xg.153955406T>CCA415126709HCFC1c.2993A>G (p.Asp998Gly)
c.2795A>G (p.Asp932Gly)
c.2084A>G (p.Asp695Gly)
Xg.153955406T>GCA415126710HCFC1c.2993A>C (p.Asp998Ala)
c.2795A>C (p.Asp932Ala)
c.2084A>C (p.Asp695Ala)
Xg.153955407C>ACA415126712HCFC1c.2992G>T (p.Asp998Tyr)
c.2794G>T (p.Asp932Tyr)
c.2083G>T (p.Asp695Tyr)
Xg.153955407C=CA2466540513HCFC1c.2992G= (p.Asp998=)
c.2794G= (p.Asp932=)
c.2083G= (p.Asp695=)
Xg.153955407C>GCA415126714HCFC1c.2992G>C (p.Asp998His)
c.2794G>C (p.Asp932His)
c.2083G>C (p.Asp695His)
Xg.153955407C>TCA415126716HCFC1c.2992G>A (p.Asp998Asn)
c.2794G>A (p.Asp932Asn)
c.2083G>A (p.Asp695Asn)
 ClinVar dbSNP gnomAD v4
Xg.153955408G>ACA10557247HCFC1c.2991C>T (p.Ala997=)
c.2793C>T (p.Ala931=)
c.2082C>T (p.Ala694=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955408G>CCA519702763HCFC1c.2991C>G (p.Ala997=)
c.2793C>G (p.Ala931=)
c.2082C>G (p.Ala694=)
Xg.153955408G=CA2466540514HCFC1c.2991C= (p.Ala997=)
c.2793C= (p.Ala931=)
c.2082C= (p.Ala694=)
Xg.153955408G>TCA519702764HCFC1c.2991C>A (p.Ala997=)
c.2793C>A (p.Ala931=)
c.2082C>A (p.Ala694=)
Xg.153955409G>ACA415126718HCFC1c.2990C>T (p.Ala997Val)
c.2792C>T (p.Ala931Val)
c.2081C>T (p.Ala694Val)
Xg.153955409G>CCA415126717HCFC1c.2990C>G (p.Ala997Gly)
c.2792C>G (p.Ala931Gly)
c.2081C>G (p.Ala694Gly)
Xg.153955409G>TCA415126719HCFC1c.2990C>A (p.Ala997Asp)
c.2792C>A (p.Ala931Asp)
c.2081C>A (p.Ala694Asp)
Xg.153955410C>ACA415126720HCFC1c.2989G>T (p.Ala997Ser)
c.2791G>T (p.Ala931Ser)
c.2080G>T (p.Ala694Ser)
Xg.153955410C=CA2466540515HCFC1c.2989G= (p.Ala997=)
c.2791G= (p.Ala931=)
c.2080G= (p.Ala694=)
Xg.153955410C>GCA415126721HCFC1c.2989G>C (p.Ala997Pro)
c.2791G>C (p.Ala931Pro)
c.2080G>C (p.Ala694Pro)
Xg.153955410C>TCA10557248HCFC1c.2989G>A (p.Ala997Thr)
c.2791G>A (p.Ala931Thr)
c.2080G>A (p.Ala694Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955411G>ACA10557249HCFC1c.2988C>T (p.Ile996=)
c.2790C>T (p.Ile930=)
c.2079C>T (p.Ile693=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153955411G>CCA415126722HCFC1c.2988C>G (p.Ile996Met)
c.2790C>G (p.Ile930Met)
c.2079C>G (p.Ile693Met)
Xg.153955411G=CA2466540516HCFC1c.2988C= (p.Ile996=)
c.2790C= (p.Ile930=)
c.2079C= (p.Ile693=)
Xg.153955411G>TCA519702765HCFC1c.2988C>A (p.Ile996=)
c.2790C>A (p.Ile930=)
c.2079C>A (p.Ile693=)
Xg.153955412A>CCA415126723HCFC1c.2987T>G (p.Ile996Ser)
c.2789T>G (p.Ile930Ser)
c.2078T>G (p.Ile693Ser)
Xg.153955412A>GCA415126724HCFC1c.2987T>C (p.Ile996Thr)
c.2789T>C (p.Ile930Thr)
c.2078T>C (p.Ile693Thr)
Xg.153955412A>TCA415126725HCFC1c.2987T>A (p.Ile996Asn)
c.2789T>A (p.Ile930Asn)
c.2078T>A (p.Ile693Asn)
Xg.153955413T>ACA415126726HCFC1c.2986A>T (p.Ile996Phe)
c.2788A>T (p.Ile930Phe)
c.2077A>T (p.Ile693Phe)
Xg.153955413T>CCA415126727HCFC1c.2986A>G (p.Ile996Val)
c.2788A>G (p.Ile930Val)
c.2077A>G (p.Ile693Val)
Xg.153955413T>GCA415126728HCFC1c.2986A>C (p.Ile996Leu)
c.2788A>C (p.Ile930Leu)
c.2077A>C (p.Ile693Leu)
Xg.153955414G>ACA519702766HCFC1c.2985C>T (p.Thr995=)
c.2787C>T (p.Thr929=)
c.2076C>T (p.Thr692=)
Xg.153955414G>CCA519702767HCFC1c.2985C>G (p.Thr995=)
c.2787C>G (p.Thr929=)
c.2076C>G (p.Thr692=)
Xg.153955414G>TCA519702768HCFC1c.2985C>A (p.Thr995=)
c.2787C>A (p.Thr929=)
c.2076C>A (p.Thr692=)
Xg.153955415G>ACA415126729HCFC1c.2984C>T (p.Thr995Ile)
c.2786C>T (p.Thr929Ile)
c.2075C>T (p.Thr692Ile)
 COSMIC COSMIC
Xg.153955415G>CCA10557250HCFC1c.2984C>G (p.Thr995Ser)
c.2786C>G (p.Thr929Ser)
c.2075C>G (p.Thr692Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955415G=CA2466540517HCFC1c.2984C= (p.Thr995=)
c.2786C= (p.Thr929=)
c.2075C= (p.Thr692=)
Xg.153955415G>TCA415126730HCFC1c.2984C>A (p.Thr995Asn)
c.2786C>A (p.Thr929Asn)
c.2075C>A (p.Thr692Asn)
Xg.153955416T>ACA415126736HCFC1c.2983A>T (p.Thr995Ser)
c.2785A>T (p.Thr929Ser)
c.2074A>T (p.Thr692Ser)
Xg.153955416T>CCA415126735HCFC1c.2983A>G (p.Thr995Ala)
c.2785A>G (p.Thr929Ala)
c.2074A>G (p.Thr692Ala)
 gnomAD v4 COSMIC COSMIC
Xg.153955416T>GCA415126733HCFC1c.2983A>C (p.Thr995Pro)
c.2785A>C (p.Thr929Pro)
c.2074A>C (p.Thr692Pro)
Xg.153955417A>CCA519702769HCFC1c.2982T>G (p.Val994=)
c.2784T>G (p.Val928=)
c.2073T>G (p.Val691=)
Xg.153955417A>GCA519702770HCFC1c.2982T>C (p.Val994=)
c.2784T>C (p.Val928=)
c.2073T>C (p.Val691=)
Xg.153955417A>TCA519702771HCFC1c.2982T>A (p.Val994=)
c.2784T>A (p.Val928=)
c.2073T>A (p.Val691=)
Xg.153955418A>CCA415126739HCFC1c.2981T>G (p.Val994Gly)
c.2783T>G (p.Val928Gly)
c.2072T>G (p.Val691Gly)
Xg.153955418A>GCA415126741HCFC1c.2981T>C (p.Val994Ala)
c.2783T>C (p.Val928Ala)
c.2072T>C (p.Val691Ala)
Xg.153955418A>TCA415126742HCFC1c.2981T>A (p.Val994Asp)
c.2783T>A (p.Val928Asp)
c.2072T>A (p.Val691Asp)
Xg.153955419C>ACA415126744HCFC1c.2980G>T (p.Val994Phe)
c.2782G>T (p.Val928Phe)
c.2071G>T (p.Val691Phe)
Xg.153955419C>GCA415126746HCFC1c.2980G>C (p.Val994Leu)
c.2782G>C (p.Val928Leu)
c.2071G>C (p.Val691Leu)
Xg.153955419C>TCA415126748HCFC1c.2980G>A (p.Val994Ile)
c.2782G>A (p.Val928Ile)
c.2071G>A (p.Val691Ile)
Xg.153955420T>ACA519702772HCFC1c.2979A>T (p.Thr993=)
c.2781A>T (p.Thr927=)
c.2070A>T (p.Thr690=)
Xg.153955420T>CCA519702773HCFC1c.2979A>G (p.Thr993=)
c.2781A>G (p.Thr927=)
c.2070A>G (p.Thr690=)
Xg.153955420T>GCA519702774HCFC1c.2979A>C (p.Thr993=)
c.2781A>C (p.Thr927=)
c.2070A>C (p.Thr690=)
 COSMIC COSMIC
Xg.153955421G>ACA415126750HCFC1c.2978C>T (p.Thr993Ile)
c.2780C>T (p.Thr927Ile)
c.2069C>T (p.Thr690Ile)
Xg.153955421G>CCA415126752HCFC1c.2978C>G (p.Thr993Arg)
c.2780C>G (p.Thr927Arg)
c.2069C>G (p.Thr690Arg)
Xg.153955421G>TCA415126753HCFC1c.2978C>A (p.Thr993Lys)
c.2780C>A (p.Thr927Lys)
c.2069C>A (p.Thr690Lys)
Xg.153955422T>ACA415126756HCFC1c.2977A>T (p.Thr993Ser)
c.2779A>T (p.Thr927Ser)
c.2068A>T (p.Thr690Ser)
Xg.153955422T>CCA415126758HCFC1c.2977A>G (p.Thr993Ala)
c.2779A>G (p.Thr927Ala)
c.2068A>G (p.Thr690Ala)
 gnomAD v4
Xg.153955422T>GCA415126760HCFC1c.2977A>C (p.Thr993Pro)
c.2779A>C (p.Thr927Pro)
c.2068A>C (p.Thr690Pro)
Xg.153955423G>ACA10557251HCFC1c.2976C>T (p.Ala992=)
c.2778C>T (p.Ala926=)
c.2067C>T (p.Ala689=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955423G>CCA519702776HCFC1c.2976C>G (p.Ala992=)
c.2778C>G (p.Ala926=)
c.2067C>G (p.Ala689=)
Xg.153955423G=CA2466540518HCFC1c.2976C= (p.Ala992=)
c.2778C= (p.Ala926=)
c.2067C= (p.Ala689=)
Xg.153955423G>TCA519702775HCFC1c.2976C>A (p.Ala992=)
c.2778C>A (p.Ala926=)
c.2067C>A (p.Ala689=)
Xg.153955424G>ACA415126768HCFC1c.2975C>T (p.Ala992Val)
c.2777C>T (p.Ala926Val)
c.2066C>T (p.Ala689Val)
Xg.153955424G>CCA415126764HCFC1c.2975C>G (p.Ala992Gly)
c.2777C>G (p.Ala926Gly)
c.2066C>G (p.Ala689Gly)
Xg.153955424G>TCA415126766HCFC1c.2975C>A (p.Ala992Asp)
c.2777C>A (p.Ala926Asp)
c.2066C>A (p.Ala689Asp)
Xg.153955425C>ACA415126771HCFC1c.2974G>T (p.Ala992Ser)
c.2776G>T (p.Ala926Ser)
c.2065G>T (p.Ala689Ser)
Xg.153955425C=CA2466540519HCFC1c.2974G= (p.Ala992=)
c.2776G= (p.Ala926=)
c.2065G= (p.Ala689=)
Xg.153955425C>GCA415126773HCFC1c.2974G>C (p.Ala992Pro)
c.2776G>C (p.Ala926Pro)
c.2065G>C (p.Ala689Pro)
Xg.153955425C>TCA10557252HCFC1c.2974G>A (p.Ala992Thr)
c.2776G>A (p.Ala926Thr)
c.2065G>A (p.Ala689Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955426G>ACA519702777HCFC1c.2973C>T (p.Thr991=)
c.2775C>T (p.Thr925=)
c.2064C>T (p.Thr688=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955426G>CCA519702779HCFC1c.2973C>G (p.Thr991=)
c.2775C>G (p.Thr925=)
c.2064C>G (p.Thr688=)
Xg.153955426G=CA2466540520HCFC1c.2973C= (p.Thr991=)
c.2775C= (p.Thr925=)
c.2064C= (p.Thr688=)
Xg.153955426G>TCA519702778HCFC1c.2973C>A (p.Thr991=)
c.2775C>A (p.Thr925=)
c.2064C>A (p.Thr688=)
 gnomAD v4
Xg.153955427G>ACA415126778HCFC1c.2972C>T (p.Thr991Ile)
c.2774C>T (p.Thr925Ile)
c.2063C>T (p.Thr688Ile)
Xg.153955427G>CCA10557253HCFC1c.2972C>G (p.Thr991Ser)
c.2774C>G (p.Thr925Ser)
c.2063C>G (p.Thr688Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153955427G=CA2466540521HCFC1c.2972C= (p.Thr991=)
c.2774C= (p.Thr925=)
c.2063C= (p.Thr688=)
Xg.153955427G>TCA415126775HCFC1c.2972C>A (p.Thr991Asn)
c.2774C>A (p.Thr925Asn)
c.2063C>A (p.Thr688Asn)
Xg.153955428T>ACA415126780HCFC1c.2971A>T (p.Thr991Ser)
c.2773A>T (p.Thr925Ser)
c.2062A>T (p.Thr688Ser)
Xg.153955428T>CCA415126782HCFC1c.2971A>G (p.Thr991Ala)
c.2773A>G (p.Thr925Ala)
c.2062A>G (p.Thr688Ala)
Xg.153955428T>GCA415126784HCFC1c.2971A>C (p.Thr991Pro)
c.2773A>C (p.Thr925Pro)
c.2062A>C (p.Thr688Pro)
Xg.153955429G>ACA519702780HCFC1c.2970C>T (p.Pro990=)
c.2772C>T (p.Pro924=)
c.2061C>T (p.Pro687=)
 ClinVar
Xg.153955429G>CCA519702782HCFC1c.2970C>G (p.Pro990=)
c.2772C>G (p.Pro924=)
c.2061C>G (p.Pro687=)
Xg.153955429G>TCA519702781HCFC1c.2970C>A (p.Pro990=)
c.2772C>A (p.Pro924=)
c.2061C>A (p.Pro687=)
Xg.153955430G>ACA415126786HCFC1c.2969C>T (p.Pro990Leu)
c.2771C>T (p.Pro924Leu)
c.2060C>T (p.Pro687Leu)
 dbSNP
Xg.153955430G>CCA415126789HCFC1c.2969C>G (p.Pro990Arg)
c.2771C>G (p.Pro924Arg)
c.2060C>G (p.Pro687Arg)
Xg.153955430G=CA2466540522HCFC1c.2969C= (p.Pro990=)
c.2771C= (p.Pro924=)
c.2060C= (p.Pro687=)
Xg.153955430G>TCA415126790HCFC1c.2969C>A (p.Pro990His)
c.2771C>A (p.Pro924His)
c.2060C>A (p.Pro687His)
Xg.153955431G>ACA415126792HCFC1c.2968C>T (p.Pro990Ser)
c.2770C>T (p.Pro924Ser)
c.2059C>T (p.Pro687Ser)
Xg.153955431G>CCA415126796HCFC1c.2968C>G (p.Pro990Ala)
c.2770C>G (p.Pro924Ala)
c.2059C>G (p.Pro687Ala)
Xg.153955431G>TCA415126794HCFC1c.2968C>A (p.Pro990Thr)
c.2770C>A (p.Pro924Thr)
c.2059C>A (p.Pro687Thr)
Xg.153955432C>ACA415126797HCFC1c.2967G>T (p.Gln989His)
c.2769G>T (p.Gln923His)
c.2058G>T (p.Gln686His)
Xg.153955432C>GCA415126799HCFC1c.2967G>C (p.Gln989His)
c.2769G>C (p.Gln923His)
c.2058G>C (p.Gln686His)
Xg.153955432C>TCA519702783HCFC1c.2967G>A (p.Gln989=)
c.2769G>A (p.Gln923=)
c.2058G>A (p.Gln686=)
Xg.153955433T>ACA415126801HCFC1c.2966A>T (p.Gln989Leu)
c.2768A>T (p.Gln923Leu)
c.2057A>T (p.Gln686Leu)
Xg.153955433T>CCA415126803HCFC1c.2966A>G (p.Gln989Arg)
c.2768A>G (p.Gln923Arg)
c.2057A>G (p.Gln686Arg)
Xg.153955433T>GCA415126805HCFC1c.2966A>C (p.Gln989Pro)
c.2768A>C (p.Gln923Pro)
c.2057A>C (p.Gln686Pro)
Xg.153955434G>ACA415126807HCFC1c.2965C>T (p.Gln989Ter)
c.2767C>T (p.Gln923Ter)
c.2056C>T (p.Gln686Ter)
Xg.153955434G>CCA415126810HCFC1c.2965C>G (p.Gln989Glu)
c.2767C>G (p.Gln923Glu)
c.2056C>G (p.Gln686Glu)
Xg.153955434G>TCA415126812HCFC1c.2965C>A (p.Gln989Lys)
c.2767C>A (p.Gln923Lys)
c.2056C>A (p.Gln686Lys)
Xg.153955435T>ACA415126814HCFC1c.2964A>T (p.Glu988Asp)
c.2766A>T (p.Glu922Asp)
c.2055A>T (p.Glu685Asp)
Xg.153955435T>CCA519702784HCFC1c.2964A>G (p.Glu988=)
c.2766A>G (p.Glu922=)
c.2055A>G (p.Glu685=)
Xg.153955435T>GCA415126816HCFC1c.2964A>C (p.Glu988Asp)
c.2766A>C (p.Glu922Asp)
c.2055A>C (p.Glu685Asp)
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)

Number of alleles fetched