Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
3	g.122284630_122285173delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA	CA1397872785	CASR	c.2445_2988delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser815=) c.2706_3249delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser902=) c.2676_3219delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser892=) c.2193_2736delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser731=) c.2088_2631delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser696=)
3	g.122284636_122285178del	CA281596	CASR	c.2451_2993del (p.Ser818_Val998del) c.2712_3254del (p.Ser905_Val1085del) c.2682_3224del (p.Ser895_Val1075del) c.2199_2741del (p.Ser734_Val914del) c.2094_2636del (p.Ser699_Val879del)	ClinVar dbSNP
3	g.122284839G>A	CA354160980	CASR	c.2654G>A (p.Cys885Tyr) c.2915G>A (p.Cys972Tyr) c.2885G>A (p.Cys962Tyr) c.2402G>A (p.Cys801Tyr) c.2297G>A (p.Cys766Tyr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284839G>C	CA354160981	CASR	c.2654G>C (p.Cys885Ser) c.2915G>C (p.Cys972Ser) c.2885G>C (p.Cys962Ser) c.2402G>C (p.Cys801Ser) c.2297G>C (p.Cys766Ser)
3	g.122284839G=	CA1397872992	CASR	c.2654G= (p.Cys885=) c.2915G= (p.Cys972=) c.2885G= (p.Cys962=) c.2402G= (p.Cys801=) c.2297G= (p.Cys766=)
3	g.122284839G>T	CA354160982	CASR	c.2654G>T (p.Cys885Phe) c.2915G>T (p.Cys972Phe) c.2885G>T (p.Cys962Phe) c.2402G>T (p.Cys801Phe) c.2297G>T (p.Cys766Phe)
3	g.122284840C>A	CA354160983	CASR	c.2655C>A (p.Cys885Ter) c.2916C>A (p.Cys972Ter) c.2886C>A (p.Cys962Ter) c.2403C>A (p.Cys801Ter) c.2298C>A (p.Cys766Ter)
3	g.122284840C>G	CA354160984	CASR	c.2655C>G (p.Cys885Trp) c.2916C>G (p.Cys972Trp) c.2886C>G (p.Cys962Trp) c.2403C>G (p.Cys801Trp) c.2298C>G (p.Cys766Trp)
3	g.122284840C>T	CA435425707	CASR	c.2655C>T (p.Cys885=) c.2916C>T (p.Cys972=) c.2886C>T (p.Cys962=) c.2403C>T (p.Cys801=) c.2298C>T (p.Cys766=)	gnomAD v4
3	g.122284841A>C	CA354160985	CASR	c.2656A>C (p.Lys886Gln) c.2917A>C (p.Lys973Gln) c.2887A>C (p.Lys963Gln) c.2404A>C (p.Lys802Gln) c.2299A>C (p.Lys767Gln)
3	g.122284841A>G	CA354160986	CASR	c.2656A>G (p.Lys886Glu) c.2917A>G (p.Lys973Glu) c.2887A>G (p.Lys963Glu) c.2404A>G (p.Lys802Glu) c.2299A>G (p.Lys767Glu)
3	g.122284841A>T	CA354160987	CASR	c.2656A>T (p.Lys886Ter) c.2917A>T (p.Lys973Ter) c.2887A>T (p.Lys963Ter) c.2404A>T (p.Lys802Ter) c.2299A>T (p.Lys767Ter)
3	g.122284842A>C	CA354160990	CASR	c.2657A>C (p.Lys886Thr) c.2918A>C (p.Lys973Thr) c.2888A>C (p.Lys963Thr) c.2405A>C (p.Lys802Thr) c.2300A>C (p.Lys767Thr)
3	g.122284842A>G	CA354160988	CASR	c.2657A>G (p.Lys886Arg) c.2918A>G (p.Lys973Arg) c.2888A>G (p.Lys963Arg) c.2405A>G (p.Lys802Arg) c.2300A>G (p.Lys767Arg)	ClinVar gnomAD v4
3	g.122284842A>T	CA354160989	CASR	c.2657A>T (p.Lys886Met) c.2918A>T (p.Lys973Met) c.2888A>T (p.Lys963Met) c.2405A>T (p.Lys802Met) c.2300A>T (p.Lys767Met)
3	g.122284842_122285665del	CA2740094578	CASR	c.2657_474del (n.[c.2657_474del;Lys886ThrfsTer5]) c.2918_474del (n.[c.2918_474del;Lys973ThrfsTer5]) c.2888_474del (n.[c.2888_474del;Lys963ThrfsTer5]) c.2405_474del (n.[c.2405_474del;Lys802ThrfsTer5]) c.2300_474del (n.[c.2300_474del;Lys767ThrfsTer5])	ClinVar
3	g.122284843G>A	CA435425711	CASR	c.2658G>A (p.Lys886=) c.2919G>A (p.Lys973=) c.2889G>A (p.Lys963=) c.2406G>A (p.Lys802=) c.2301G>A (p.Lys767=)	ClinVar
3	g.122284843G>C	CA16611133	CASR	c.2658G>C (p.Lys886Asn) c.2919G>C (p.Lys973Asn) c.2889G>C (p.Lys963Asn) c.2406G>C (p.Lys802Asn) c.2301G>C (p.Lys767Asn)	ClinVar dbSNP gnomAD v2
3	g.122284843G=	CA1397872994	CASR	c.2658G= (p.Lys886=) c.2919G= (p.Lys973=) c.2889G= (p.Lys963=) c.2406G= (p.Lys802=) c.2301G= (p.Lys767=)
3	g.122284843G>T	CA354160991	CASR	c.2658G>T (p.Lys886Asn) c.2919G>T (p.Lys973Asn) c.2889G>T (p.Lys963Asn) c.2406G>T (p.Lys802Asn) c.2301G>T (p.Lys767Asn)	ClinVar
3	g.122284844C>A	CA354160992	CASR	c.2659C>A (p.Gln887Lys) c.2920C>A (p.Gln974Lys) c.2890C>A (p.Gln964Lys) c.2407C>A (p.Gln803Lys) c.2302C>A (p.Gln768Lys)
3	g.122284844C=	CA1397872997	CASR	c.2659C= (p.Gln887=) c.2920C= (p.Gln974=) c.2890C= (p.Gln964=) c.2407C= (p.Gln803=) c.2302C= (p.Gln768=)
3	g.122284844C>G	CA354160993	CASR	c.2659C>G (p.Gln887Glu) c.2920C>G (p.Gln974Glu) c.2890C>G (p.Gln964Glu) c.2407C>G (p.Gln803Glu) c.2302C>G (p.Gln768Glu)	ClinVar dbSNP
3	g.122284844C>T	CA354160994	CASR	c.2659C>T (p.Gln887Ter) c.2920C>T (p.Gln974Ter) c.2890C>T (p.Gln964Ter) c.2407C>T (p.Gln803Ter) c.2302C>T (p.Gln768Ter)
3	g.122284844_122284847delinsCAGA	CA1397872995	CASR	c.2659_2662delinsCAGA (p.Gln887=) c.2920_2923delinsCAGA (p.Gln974=) c.2890_2893delinsCAGA (p.Gln964=) c.2407_2410delinsCAGA (p.Gln803=) c.2302_2305delinsCAGA (p.Gln768=)
3	g.122284845A>C	CA354160995	CASR	c.2660A>C (p.Gln887Pro) c.2921A>C (p.Gln974Pro) c.2891A>C (p.Gln964Pro) c.2408A>C (p.Gln803Pro) c.2303A>C (p.Gln768Pro)
3	g.122284845A>G	CA354160996	CASR	c.2660A>G (p.Gln887Arg) c.2921A>G (p.Gln974Arg) c.2891A>G (p.Gln964Arg) c.2408A>G (p.Gln803Arg) c.2303A>G (p.Gln768Arg)
3	g.122284845A>T	CA354160997	CASR	c.2660A>T (p.Gln887Leu) c.2921A>T (p.Gln974Leu) c.2891A>T (p.Gln964Leu) c.2408A>T (p.Gln803Leu) c.2303A>T (p.Gln768Leu)
3	g.122284847_122284849del	CA2569885	CASR	c.2662_2664del (p.Lys888del) c.2923_2925del (p.Lys975del) c.2893_2895del (p.Lys965del) c.2410_2412del (p.Lys804del) c.2305_2307del (p.Lys769del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284846G>A	CA435425713	CASR	c.2661G>A (p.Gln887=) c.2922G>A (p.Gln974=) c.2892G>A (p.Gln964=) c.2409G>A (p.Gln803=) c.2304G>A (p.Gln768=)	dbSNP gnomAD v3 gnomAD v4
3	g.122284846G>C	CA354160998	CASR	c.2661G>C (p.Gln887His) c.2922G>C (p.Gln974His) c.2892G>C (p.Gln964His) c.2409G>C (p.Gln803His) c.2304G>C (p.Gln768His)
3	g.122284846G=	CA1397872998	CASR	c.2661G= (p.Gln887=) c.2922G= (p.Gln974=) c.2892G= (p.Gln964=) c.2409G= (p.Gln803=) c.2304G= (p.Gln768=)
3	g.122284846G>T	CA354160999	CASR	c.2661G>T (p.Gln887His) c.2922G>T (p.Gln974His) c.2892G>T (p.Gln964His) c.2409G>T (p.Gln803His) c.2304G>T (p.Gln768His)
3	g.122284847A>C	CA354161002	CASR	c.2662A>C (p.Lys888Gln) c.2923A>C (p.Lys975Gln) c.2893A>C (p.Lys965Gln) c.2410A>C (p.Lys804Gln) c.2305A>C (p.Lys769Gln)
3	g.122284847A>G	CA354161001	CASR	c.2662A>G (p.Lys888Glu) c.2923A>G (p.Lys975Glu) c.2893A>G (p.Lys965Glu) c.2410A>G (p.Lys804Glu) c.2305A>G (p.Lys769Glu)
3	g.122284847A>T	CA354161000	CASR	c.2662A>T (p.Lys888Ter) c.2923A>T (p.Lys975Ter) c.2893A>T (p.Lys965Ter) c.2410A>T (p.Lys804Ter) c.2305A>T (p.Lys769Ter)
3	g.122284848A>C	CA354161003	CASR	c.2663A>C (p.Lys888Thr) c.2924A>C (p.Lys975Thr) c.2894A>C (p.Lys965Thr) c.2411A>C (p.Lys804Thr) c.2306A>C (p.Lys769Thr)
3	g.122284848A>G	CA354161004	CASR	c.2663A>G (p.Lys888Arg) c.2924A>G (p.Lys975Arg) c.2894A>G (p.Lys965Arg) c.2411A>G (p.Lys804Arg) c.2306A>G (p.Lys769Arg)
3	g.122284848A>T	CA354161005	CASR	c.2663A>T (p.Lys888Met) c.2924A>T (p.Lys975Met) c.2894A>T (p.Lys965Met) c.2411A>T (p.Lys804Met) c.2306A>T (p.Lys769Met)
3	g.122284849G>A	CA435425714	CASR	c.2664G>A (p.Lys888=) c.2925G>A (p.Lys975=) c.2895G>A (p.Lys965=) c.2412G>A (p.Lys804=) c.2307G>A (p.Lys769=)	ClinVar dbSNP gnomAD v4
3	g.122284849G>C	CA354161006	CASR	c.2664G>C (p.Lys888Asn) c.2925G>C (p.Lys975Asn) c.2895G>C (p.Lys965Asn) c.2412G>C (p.Lys804Asn) c.2307G>C (p.Lys769Asn)	gnomAD v4
3	g.122284849G=	CA1397873000	CASR	c.2664G= (p.Lys888=) c.2925G= (p.Lys975=) c.2895G= (p.Lys965=) c.2412G= (p.Lys804=) c.2307G= (p.Lys769=)
3	g.122284849G>T	CA354161007	CASR	c.2664G>T (p.Lys888Asn) c.2925G>T (p.Lys975Asn) c.2895G>T (p.Lys965Asn) c.2412G>T (p.Lys804Asn) c.2307G>T (p.Lys769Asn)	ClinVar dbSNP
3	g.122284850G>A	CA354161008	CASR	c.2665G>A (p.Val889Ile) c.2926G>A (p.Val976Ile) c.2896G>A (p.Val966Ile) c.2413G>A (p.Val805Ile) c.2308G>A (p.Val770Ile)	ClinVar
3	g.122284850G>C	CA354161009	CASR	c.2665G>C (p.Val889Leu) c.2926G>C (p.Val976Leu) c.2896G>C (p.Val966Leu) c.2413G>C (p.Val805Leu) c.2308G>C (p.Val770Leu)
3	g.122284850G>T	CA354161010	CASR	c.2665G>T (p.Val889Phe) c.2926G>T (p.Val976Phe) c.2896G>T (p.Val966Phe) c.2413G>T (p.Val805Phe) c.2308G>T (p.Val770Phe)
3	g.122284851T>A	CA354161011	CASR	c.2666T>A (p.Val889Asp) c.2927T>A (p.Val976Asp) c.2897T>A (p.Val966Asp) c.2414T>A (p.Val805Asp) c.2309T>A (p.Val770Asp)
3	g.122284851T>C	CA354161012	CASR	c.2666T>C (p.Val889Ala) c.2927T>C (p.Val976Ala) c.2897T>C (p.Val966Ala) c.2414T>C (p.Val805Ala) c.2309T>C (p.Val770Ala)
3	g.122284851T>G	CA354161013	CASR	c.2666T>G (p.Val889Gly) c.2927T>G (p.Val976Gly) c.2897T>G (p.Val966Gly) c.2414T>G (p.Val805Gly) c.2309T>G (p.Val770Gly)
3	g.122284852C>A	CA435425715	CASR	c.2667C>A (p.Val889=) c.2928C>A (p.Val976=) c.2898C>A (p.Val966=) c.2415C>A (p.Val805=) c.2310C>A (p.Val770=)
3	g.122284852C=	CA1397873001	CASR	c.2667C= (p.Val889=) c.2928C= (p.Val976=) c.2898C= (p.Val966=) c.2415C= (p.Val805=) c.2310C= (p.Val770=)
3	g.122284852C>G	CA435425717	CASR	c.2667C>G (p.Val889=) c.2928C>G (p.Val976=) c.2898C>G (p.Val966=) c.2415C>G (p.Val805=) c.2310C>G (p.Val770=)
3	g.122284852C>T	CA435425716	CASR	c.2667C>T (p.Val889=) c.2928C>T (p.Val976=) c.2898C>T (p.Val966=) c.2415C>T (p.Val805=) c.2310C>T (p.Val770=)	ClinVar dbSNP
3	g.122284853A=	CA1397873003	CASR	c.2668A= (p.Ile890=) c.2929A= (p.Ile977=) c.2899A= (p.Ile967=) c.2416A= (p.Ile806=) c.2311A= (p.Ile771=)
3	g.122284853A>C	CA354161014	CASR	c.2668A>C (p.Ile890Leu) c.2929A>C (p.Ile977Leu) c.2899A>C (p.Ile967Leu) c.2416A>C (p.Ile806Leu) c.2311A>C (p.Ile771Leu)
3	g.122284853A>G	CA2569886	CASR	c.2668A>G (p.Ile890Val) c.2929A>G (p.Ile977Val) c.2899A>G (p.Ile967Val) c.2416A>G (p.Ile806Val) c.2311A>G (p.Ile771Val)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3	g.122284853A>T	CA354161015	CASR	c.2668A>T (p.Ile890Phe) c.2929A>T (p.Ile977Phe) c.2899A>T (p.Ile967Phe) c.2416A>T (p.Ile806Phe) c.2311A>T (p.Ile771Phe)
3	g.122284854T>A	CA354161018	CASR	c.2669T>A (p.Ile890Asn) c.2930T>A (p.Ile977Asn) c.2900T>A (p.Ile967Asn) c.2417T>A (p.Ile806Asn) c.2312T>A (p.Ile771Asn)	gnomAD v4
3	g.122284854T>C	CA354161017	CASR	c.2669T>C (p.Ile890Thr) c.2930T>C (p.Ile977Thr) c.2900T>C (p.Ile967Thr) c.2417T>C (p.Ile806Thr) c.2312T>C (p.Ile771Thr)
3	g.122284854T>G	CA354161016	CASR	c.2669T>G (p.Ile890Ser) c.2930T>G (p.Ile977Ser) c.2900T>G (p.Ile967Ser) c.2417T>G (p.Ile806Ser) c.2312T>G (p.Ile771Ser)
3	g.122284854_122284875delinsTCTTTGGCAGCGGCACGGTCAC	CA1397873005	CASR	c.2669_2690delinsTCTTTGGCAGCGGCACGGTCAC (p.Ile890=) c.2930_2951delinsTCTTTGGCAGCGGCACGGTCAC (p.Ile977=) c.2900_2921delinsTCTTTGGCAGCGGCACGGTCAC (p.Ile967=) c.2417_2438delinsTCTTTGGCAGCGGCACGGTCAC (p.Ile806=) c.2312_2333delinsTCTTTGGCAGCGGCACGGTCAC (p.Ile771=)
3	g.122284855del	CA2580068669	CASR	c.2670del (p.Phe891LeufsTer10) c.2931del (p.Phe978LeufsTer10) c.2901del (p.Phe968LeufsTer10) c.2418del (p.Phe807LeufsTer10) c.2313del (p.Phe772LeufsTer10)	ClinVar dbSNP
3	g.122284855C>A	CA246560	CASR	c.2670C>A (p.Ile890=) c.2931C>A (p.Ile977=) c.2901C>A (p.Ile967=) c.2418C>A (p.Ile806=) c.2313C>A (p.Ile771=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284855C=	CA1397873007	CASR	c.2670C= (p.Ile890=) c.2931C= (p.Ile977=) c.2901C= (p.Ile967=) c.2418C= (p.Ile806=) c.2313C= (p.Ile771=)
3	g.122284855C>G	CA354161019	CASR	c.2670C>G (p.Ile890Met) c.2931C>G (p.Ile977Met) c.2901C>G (p.Ile967Met) c.2418C>G (p.Ile806Met) c.2313C>G (p.Ile771Met)
3	g.122284855C>T	CA435425718	CASR	c.2670C>T (p.Ile890=) c.2931C>T (p.Ile977=) c.2901C>T (p.Ile967=) c.2418C>T (p.Ile806=) c.2313C>T (p.Ile771=)	ClinVar dbSNP
3	g.122284858_122284878del	CA916082596	CASR	c.2673_2693del (p.Gly892_Phe898del) c.2934_2954del (p.Gly979_Phe985del) c.2904_2924del (p.Gly969_Phe975del) c.2421_2441del (p.Gly808_Phe814del) c.2316_2336del (p.Gly773_Phe779del)	ClinVar dbSNP
3	g.122284856T>A	CA354161020	CASR	c.2671T>A (p.Phe891Ile) c.2932T>A (p.Phe978Ile) c.2902T>A (p.Phe968Ile) c.2419T>A (p.Phe807Ile) c.2314T>A (p.Phe772Ile)
3	g.122284856T>C	CA354161021	CASR	c.2671T>C (p.Phe891Leu) c.2932T>C (p.Phe978Leu) c.2902T>C (p.Phe968Leu) c.2419T>C (p.Phe807Leu) c.2314T>C (p.Phe772Leu)
3	g.122284856T>G	CA354161022	CASR	c.2671T>G (p.Phe891Val) c.2932T>G (p.Phe978Val) c.2902T>G (p.Phe968Val) c.2419T>G (p.Phe807Val) c.2314T>G (p.Phe772Val)
3	g.122284857T>A	CA354161023	CASR	c.2672T>A (p.Phe891Tyr) c.2933T>A (p.Phe978Tyr) c.2903T>A (p.Phe968Tyr) c.2420T>A (p.Phe807Tyr) c.2315T>A (p.Phe772Tyr)
3	g.122284857T>C	CA354161024	CASR	c.2672T>C (p.Phe891Ser) c.2933T>C (p.Phe978Ser) c.2903T>C (p.Phe968Ser) c.2420T>C (p.Phe807Ser) c.2315T>C (p.Phe772Ser)	ClinVar dbSNP gnomAD v4
3	g.122284857T>G	CA354161025	CASR	c.2672T>G (p.Phe891Cys) c.2933T>G (p.Phe978Cys) c.2903T>G (p.Phe968Cys) c.2420T>G (p.Phe807Cys) c.2315T>G (p.Phe772Cys)
3	g.122284858T>A	CA354161026	CASR	c.2673T>A (p.Phe891Leu) c.2934T>A (p.Phe978Leu) c.2904T>A (p.Phe968Leu) c.2421T>A (p.Phe807Leu) c.2316T>A (p.Phe772Leu)
3	g.122284858T>C	CA2569887	CASR	c.2673T>C (p.Phe891=) c.2934T>C (p.Phe978=) c.2904T>C (p.Phe968=) c.2421T>C (p.Phe807=) c.2316T>C (p.Phe772=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284858T>G	CA354161027	CASR	c.2673T>G (p.Phe891Leu) c.2934T>G (p.Phe978Leu) c.2904T>G (p.Phe968Leu) c.2421T>G (p.Phe807Leu) c.2316T>G (p.Phe772Leu)	ClinVar
3	g.122284858T=	CA1397873009	CASR	c.2673T= (p.Phe891=) c.2934T= (p.Phe978=) c.2904T= (p.Phe968=) c.2421T= (p.Phe807=) c.2316T= (p.Phe772=)
3	g.122284859G>A	CA354161028	CASR	c.2674G>A (p.Gly892Ser) c.2935G>A (p.Gly979Ser) c.2905G>A (p.Gly969Ser) c.2422G>A (p.Gly808Ser) c.2317G>A (p.Gly773Ser)	ClinVar
3	g.122284859G>C	CA354161029	CASR	c.2674G>C (p.Gly892Arg) c.2935G>C (p.Gly979Arg) c.2905G>C (p.Gly969Arg) c.2422G>C (p.Gly808Arg) c.2317G>C (p.Gly773Arg)
3	g.122284859G>T	CA354161030	CASR	c.2674G>T (p.Gly892Cys) c.2935G>T (p.Gly979Cys) c.2905G>T (p.Gly969Cys) c.2422G>T (p.Gly808Cys) c.2317G>T (p.Gly773Cys)
3	g.122284860G>A	CA354161033	CASR	c.2675G>A (p.Gly892Asp) c.2936G>A (p.Gly979Asp) c.2906G>A (p.Gly969Asp) c.2423G>A (p.Gly808Asp) c.2318G>A (p.Gly773Asp)
3	g.122284860G>C	CA354161032	CASR	c.2675G>C (p.Gly892Ala) c.2936G>C (p.Gly979Ala) c.2906G>C (p.Gly969Ala) c.2423G>C (p.Gly808Ala) c.2318G>C (p.Gly773Ala)
3	g.122284860G>T	CA354161031	CASR	c.2675G>T (p.Gly892Val) c.2936G>T (p.Gly979Val) c.2906G>T (p.Gly969Val) c.2423G>T (p.Gly808Val) c.2318G>T (p.Gly773Val)
3	g.122284861C>A	CA435425719	CASR	c.2676C>A (p.Gly892=) c.2937C>A (p.Gly979=) c.2907C>A (p.Gly969=) c.2424C>A (p.Gly808=) c.2319C>A (p.Gly773=)
3	g.122284861C>G	CA435425720	CASR	c.2676C>G (p.Gly892=) c.2937C>G (p.Gly979=) c.2907C>G (p.Gly969=) c.2424C>G (p.Gly808=) c.2319C>G (p.Gly773=)	gnomAD v4
3	g.122284861C>T	CA435425721	CASR	c.2676C>T (p.Gly892=) c.2937C>T (p.Gly979=) c.2907C>T (p.Gly969=) c.2424C>T (p.Gly808=) c.2319C>T (p.Gly773=)	ClinVar
3	g.122284862A>C	CA354161034	CASR	c.2677A>C (p.Ser893Arg) c.2938A>C (p.Ser980Arg) c.2908A>C (p.Ser970Arg) c.2425A>C (p.Ser809Arg) c.2320A>C (p.Ser774Arg)
3	g.122284862A>G	CA354161035	CASR	c.2677A>G (p.Ser893Gly) c.2938A>G (p.Ser980Gly) c.2908A>G (p.Ser970Gly) c.2425A>G (p.Ser809Gly) c.2320A>G (p.Ser774Gly)
3	g.122284862A>T	CA354161036	CASR	c.2677A>T (p.Ser893Cys) c.2938A>T (p.Ser980Cys) c.2908A>T (p.Ser970Cys) c.2425A>T (p.Ser809Cys) c.2320A>T (p.Ser774Cys)
3	g.122284863G>A	CA354161037	CASR	c.2678G>A (p.Ser893Asn) c.2939G>A (p.Ser980Asn) c.2909G>A (p.Ser970Asn) c.2426G>A (p.Ser809Asn) c.2321G>A (p.Ser774Asn)	ClinVar
3	g.122284863G>C	CA354161038	CASR	c.2678G>C (p.Ser893Thr) c.2939G>C (p.Ser980Thr) c.2909G>C (p.Ser970Thr) c.2426G>C (p.Ser809Thr) c.2321G>C (p.Ser774Thr)
3	g.122284863G>T	CA354161039	CASR	c.2678G>T (p.Ser893Ile) c.2939G>T (p.Ser980Ile) c.2909G>T (p.Ser970Ile) c.2426G>T (p.Ser809Ile) c.2321G>T (p.Ser774Ile)
3	g.122284864C>A	CA354161041	CASR	c.2679C>A (p.Ser893Arg) c.2940C>A (p.Ser980Arg) c.2910C>A (p.Ser970Arg) c.2427C>A (p.Ser809Arg) c.2322C>A (p.Ser774Arg)	dbSNP gnomAD v2 gnomAD v4
3	g.122284864C=	CA1397873010	CASR	c.2679C= (p.Ser893=) c.2940C= (p.Ser980=) c.2910C= (p.Ser970=) c.2427C= (p.Ser809=) c.2322C= (p.Ser774=)
3	g.122284864C>G	CA354161040	CASR	c.2679C>G (p.Ser893Arg) c.2940C>G (p.Ser980Arg) c.2910C>G (p.Ser970Arg) c.2427C>G (p.Ser809Arg) c.2322C>G (p.Ser774Arg)	gnomAD v4
3	g.122284864C>T	CA2569888	CASR	c.2679C>T (p.Ser893=) c.2940C>T (p.Ser980=) c.2910C>T (p.Ser970=) c.2427C>T (p.Ser809=) c.2322C>T (p.Ser774=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122284865G>A	CA354161042	CASR	c.2680G>A (p.Gly894Ser) c.2941G>A (p.Gly981Ser) c.2911G>A (p.Gly971Ser) c.2428G>A (p.Gly810Ser) c.2323G>A (p.Gly775Ser)	COSMIC
3	g.122284865G>C	CA354161043	CASR	c.2680G>C (p.Gly894Arg) c.2941G>C (p.Gly981Arg) c.2911G>C (p.Gly971Arg) c.2428G>C (p.Gly810Arg) c.2323G>C (p.Gly775Arg)
3	g.122284865G>T	CA354161044	CASR	c.2680G>T (p.Gly894Cys) c.2941G>T (p.Gly981Cys) c.2911G>T (p.Gly971Cys) c.2428G>T (p.Gly810Cys) c.2323G>T (p.Gly775Cys)
3	g.122284866G>A	CA354161045	CASR	c.2681G>A (p.Gly894Asp) c.2942G>A (p.Gly981Asp) c.2912G>A (p.Gly971Asp) c.2429G>A (p.Gly810Asp) c.2324G>A (p.Gly775Asp)
3	g.122284866G>C	CA354161046	CASR	c.2681G>C (p.Gly894Ala) c.2942G>C (p.Gly981Ala) c.2912G>C (p.Gly971Ala) c.2429G>C (p.Gly810Ala) c.2324G>C (p.Gly775Ala)
3	g.122284866G=	CA1397873012	CASR	c.2681G= (p.Gly894=) c.2942G= (p.Gly981=) c.2912G= (p.Gly971=) c.2429G= (p.Gly810=) c.2324G= (p.Gly775=)
3	g.122284866G>T	CA354161047	CASR	c.2681G>T (p.Gly894Val) c.2942G>T (p.Gly981Val) c.2912G>T (p.Gly971Val) c.2429G>T (p.Gly810Val) c.2324G>T (p.Gly775Val)	dbSNP gnomAD v2 gnomAD v4
3	g.122284866_122284867delinsTT	CA2740094579	CASR	c.2681_2682delinsTT (p.Gly894Val) c.2942_2943delinsTT (p.Gly981Val) c.2912_2913delinsTT (p.Gly971Val) c.2429_2430delinsTT (p.Gly810Val) c.2324_2325delinsTT (p.Gly775Val)	ClinVar
3	g.122284867C>A	CA435425725	CASR	c.2682C>A (p.Gly894=) c.2943C>A (p.Gly981=) c.2913C>A (p.Gly971=) c.2430C>A (p.Gly810=) c.2325C>A (p.Gly775=)
3	g.122284867C>G	CA435425723	CASR	c.2682C>G (p.Gly894=) c.2943C>G (p.Gly981=) c.2913C>G (p.Gly971=) c.2430C>G (p.Gly810=) c.2325C>G (p.Gly775=)
3	g.122284867C>T	CA435425724	CASR	c.2682C>T (p.Gly894=) c.2943C>T (p.Gly981=) c.2913C>T (p.Gly971=) c.2430C>T (p.Gly810=) c.2325C>T (p.Gly775=)
3	g.122284868A>C	CA354161048	CASR	c.2683A>C (p.Thr895Pro) c.2944A>C (p.Thr982Pro) c.2914A>C (p.Thr972Pro) c.2431A>C (p.Thr811Pro) c.2326A>C (p.Thr776Pro)
3	g.122284868A>G	CA354161050	CASR	c.2683A>G (p.Thr895Ala) c.2944A>G (p.Thr982Ala) c.2914A>G (p.Thr972Ala) c.2431A>G (p.Thr811Ala) c.2326A>G (p.Thr776Ala)
3	g.122284868A>T	CA354161049	CASR	c.2683A>T (p.Thr895Ser) c.2944A>T (p.Thr982Ser) c.2914A>T (p.Thr972Ser) c.2431A>T (p.Thr811Ser) c.2326A>T (p.Thr776Ser)
3	g.122284869C>A	CA354161051	CASR	c.2684C>A (p.Thr895Lys) c.2945C>A (p.Thr982Lys) c.2915C>A (p.Thr972Lys) c.2432C>A (p.Thr811Lys) c.2327C>A (p.Thr776Lys)
3	g.122284869C=	CA1397873013	CASR	c.2684C= (p.Thr895=) c.2945C= (p.Thr982=) c.2915C= (p.Thr972=) c.2432C= (p.Thr811=) c.2327C= (p.Thr776=)
3	g.122284869C>G	CA354161052	CASR	c.2684C>G (p.Thr895Arg) c.2945C>G (p.Thr982Arg) c.2915C>G (p.Thr972Arg) c.2432C>G (p.Thr811Arg) c.2327C>G (p.Thr776Arg)	ClinVar
3	g.122284869C>T	CA2569889	CASR	c.2684C>T (p.Thr895Met) c.2945C>T (p.Thr982Met) c.2915C>T (p.Thr972Met) c.2432C>T (p.Thr811Met) c.2327C>T (p.Thr776Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122284870G>A	CA2569890	CASR	c.2685G>A (p.Thr895=) c.2946G>A (p.Thr982=) c.2916G>A (p.Thr972=) c.2433G>A (p.Thr811=) c.2328G>A (p.Thr776=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284870G>C	CA435425726	CASR	c.2685G>C (p.Thr895=) c.2946G>C (p.Thr982=) c.2916G>C (p.Thr972=) c.2433G>C (p.Thr811=) c.2328G>C (p.Thr776=)
3	g.122284870G=	CA1397873016	CASR	c.2685G= (p.Thr895=) c.2946G= (p.Thr982=) c.2916G= (p.Thr972=) c.2433G= (p.Thr811=) c.2328G= (p.Thr776=)
3	g.122284870G>T	CA435425727	CASR	c.2685G>T (p.Thr895=) c.2946G>T (p.Thr982=) c.2916G>T (p.Thr972=) c.2433G>T (p.Thr811=) c.2328G>T (p.Thr776=)
3	g.122284871G>A	CA354161053	CASR	c.2686G>A (p.Val896Ile) c.2947G>A (p.Val983Ile) c.2917G>A (p.Val973Ile) c.2434G>A (p.Val812Ile) c.2329G>A (p.Val777Ile)	ClinVar dbSNP
3	g.122284871G>C	CA354161054	CASR	c.2686G>C (p.Val896Leu) c.2947G>C (p.Val983Leu) c.2917G>C (p.Val973Leu) c.2434G>C (p.Val812Leu) c.2329G>C (p.Val777Leu)
3	g.122284871G>T	CA354161055	CASR	c.2686G>T (p.Val896Phe) c.2947G>T (p.Val983Phe) c.2917G>T (p.Val973Phe) c.2434G>T (p.Val812Phe) c.2329G>T (p.Val777Phe)
3	g.122284872del	CA2667224771	CASR	c.2687del (p.Val896AlafsTer5) c.2948del (p.Val983AlafsTer5) c.2918del (p.Val973AlafsTer5) c.2435del (p.Val812AlafsTer5) c.2330del (p.Val777AlafsTer5)	gnomAD v4
3	g.122284872T>A	CA354161056	CASR	c.2687T>A (p.Val896Asp) c.2948T>A (p.Val983Asp) c.2918T>A (p.Val973Asp) c.2435T>A (p.Val812Asp) c.2330T>A (p.Val777Asp)
3	g.122284872T>C	CA354161057	CASR	c.2687T>C (p.Val896Ala) c.2948T>C (p.Val983Ala) c.2918T>C (p.Val973Ala) c.2435T>C (p.Val812Ala) c.2330T>C (p.Val777Ala)
3	g.122284872T>G	CA354161058	CASR	c.2687T>G (p.Val896Gly) c.2948T>G (p.Val983Gly) c.2918T>G (p.Val973Gly) c.2435T>G (p.Val812Gly) c.2330T>G (p.Val777Gly)
3	g.122284873C>A	CA82749344	CASR	c.2688C>A (p.Val896=) c.2949C>A (p.Val983=) c.2919C>A (p.Val973=) c.2436C>A (p.Val812=) c.2331C>A (p.Val777=)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284873C=	CA1397873019	CASR	c.2688C= (p.Val896=) c.2949C= (p.Val983=) c.2919C= (p.Val973=) c.2436C= (p.Val812=) c.2331C= (p.Val777=)
3	g.122284873C>G	CA435425730	CASR	c.2688C>G (p.Val896=) c.2949C>G (p.Val983=) c.2919C>G (p.Val973=) c.2436C>G (p.Val812=) c.2331C>G (p.Val777=)
3	g.122284873C>T	CA435425731	CASR	c.2688C>T (p.Val896=) c.2949C>T (p.Val983=) c.2919C>T (p.Val973=) c.2436C>T (p.Val812=) c.2331C>T (p.Val777=)	ClinVar dbSNP gnomAD v2
3	g.122284874A=	CA1397873022	CASR	c.2689A= (p.Thr897=) c.2950A= (p.Thr984=) c.2920A= (p.Thr974=) c.2437A= (p.Thr813=) c.2332A= (p.Thr778=)
3	g.122284874A>C	CA354161059	CASR	c.2689A>C (p.Thr897Pro) c.2950A>C (p.Thr984Pro) c.2920A>C (p.Thr974Pro) c.2437A>C (p.Thr813Pro) c.2332A>C (p.Thr778Pro)
3	g.122284874A>G	CA354161060	CASR	c.2689A>G (p.Thr897Ala) c.2950A>G (p.Thr984Ala) c.2920A>G (p.Thr974Ala) c.2437A>G (p.Thr813Ala) c.2332A>G (p.Thr778Ala)
3	g.122284874A>T	CA216132	CASR	c.2689A>T (p.Thr897Ser) c.2950A>T (p.Thr984Ser) c.2920A>T (p.Thr974Ser) c.2437A>T (p.Thr813Ser) c.2332A>T (p.Thr778Ser)	ClinVar dbSNP
3	g.122284875C>A	CA354161061	CASR	c.2690C>A (p.Thr897Asn) c.2951C>A (p.Thr984Asn) c.2921C>A (p.Thr974Asn) c.2438C>A (p.Thr813Asn) c.2333C>A (p.Thr778Asn)
3	g.122284875C=	CA1397873024	CASR	c.2690C= (p.Thr897=) c.2951C= (p.Thr984=) c.2921C= (p.Thr974=) c.2438C= (p.Thr813=) c.2333C= (p.Thr778=)
3	g.122284875C>G	CA354161062	CASR	c.2690C>G (p.Thr897Ser) c.2951C>G (p.Thr984Ser) c.2921C>G (p.Thr974Ser) c.2438C>G (p.Thr813Ser) c.2333C>G (p.Thr778Ser)
3	g.122284875C>T	CA2569891	CASR	c.2690C>T (p.Thr897Ile) c.2951C>T (p.Thr984Ile) c.2921C>T (p.Thr974Ile) c.2438C>T (p.Thr813Ile) c.2333C>T (p.Thr778Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284876C>A	CA435425733	CASR	c.2691C>A (p.Thr897=) c.2952C>A (p.Thr984=) c.2922C>A (p.Thr974=) c.2439C>A (p.Thr813=) c.2334C>A (p.Thr778=)
3	g.122284876C=	CA1397873026	CASR	c.2691C= (p.Thr897=) c.2952C= (p.Thr984=) c.2922C= (p.Thr974=) c.2439C= (p.Thr813=) c.2334C= (p.Thr778=)
3	g.122284876C>G	CA435425734	CASR	c.2691C>G (p.Thr897=) c.2952C>G (p.Thr984=) c.2922C>G (p.Thr974=) c.2439C>G (p.Thr813=) c.2334C>G (p.Thr778=)
3	g.122284876C>T	CA2569892	CASR	c.2691C>T (p.Thr897=) c.2952C>T (p.Thr984=) c.2922C>T (p.Thr974=) c.2439C>T (p.Thr813=) c.2334C>T (p.Thr778=)	ClinVar dbSNP ExAC gnomAD v2 COSMIC
3	g.122284877T>A	CA354161063	CASR	c.2692T>A (p.Phe898Ile) c.2953T>A (p.Phe985Ile) c.2923T>A (p.Phe975Ile) c.2440T>A (p.Phe814Ile) c.2335T>A (p.Phe779Ile)
3	g.122284877T>C	CA354161064	CASR	c.2692T>C (p.Phe898Leu) c.2953T>C (p.Phe985Leu) c.2923T>C (p.Phe975Leu) c.2440T>C (p.Phe814Leu) c.2335T>C (p.Phe779Leu)	dbSNP gnomAD v2 gnomAD v4
3	g.122284877T>G	CA354161065	CASR	c.2692T>G (p.Phe898Val) c.2953T>G (p.Phe985Val) c.2923T>G (p.Phe975Val) c.2440T>G (p.Phe814Val) c.2335T>G (p.Phe779Val)
3	g.122284877T=	CA1397873027	CASR	c.2692T= (p.Phe898=) c.2953T= (p.Phe985=) c.2923T= (p.Phe975=) c.2440T= (p.Phe814=) c.2335T= (p.Phe779=)
3	g.122284878T>A	CA354161068	CASR	c.2693T>A (p.Phe898Tyr) c.2954T>A (p.Phe985Tyr) c.2924T>A (p.Phe975Tyr) c.2441T>A (p.Phe814Tyr) c.2336T>A (p.Phe779Tyr)
3	g.122284878T>C	CA354161066	CASR	c.2693T>C (p.Phe898Ser) c.2954T>C (p.Phe985Ser) c.2924T>C (p.Phe975Ser) c.2441T>C (p.Phe814Ser) c.2336T>C (p.Phe779Ser)
3	g.122284878T>G	CA354161067	CASR	c.2693T>G (p.Phe898Cys) c.2954T>G (p.Phe985Cys) c.2924T>G (p.Phe975Cys) c.2441T>G (p.Phe814Cys) c.2336T>G (p.Phe779Cys)
3	g.122284879C>A	CA354161069	CASR	c.2694C>A (p.Phe898Leu) c.2955C>A (p.Phe985Leu) c.2925C>A (p.Phe975Leu) c.2442C>A (p.Phe814Leu) c.2337C>A (p.Phe779Leu)
3	g.122284879C>G	CA354161070	CASR	c.2694C>G (p.Phe898Leu) c.2955C>G (p.Phe985Leu) c.2925C>G (p.Phe975Leu) c.2442C>G (p.Phe814Leu) c.2337C>G (p.Phe779Leu)
3	g.122284879C>T	CA435425736	CASR	c.2694C>T (p.Phe898=) c.2955C>T (p.Phe985=) c.2925C>T (p.Phe975=) c.2442C>T (p.Phe814=) c.2337C>T (p.Phe779=)
3	g.122284880T>A	CA354161071	CASR	c.2695T>A (p.Ser899Thr) c.2956T>A (p.Ser986Thr) c.2926T>A (p.Ser976Thr) c.2443T>A (p.Ser815Thr) c.2338T>A (p.Ser780Thr)
3	g.122284880T>C	CA354161072	CASR	c.2695T>C (p.Ser899Pro) c.2956T>C (p.Ser986Pro) c.2926T>C (p.Ser976Pro) c.2443T>C (p.Ser815Pro) c.2338T>C (p.Ser780Pro)
3	g.122284880T>G	CA354161073	CASR	c.2695T>G (p.Ser899Ala) c.2956T>G (p.Ser986Ala) c.2926T>G (p.Ser976Ala) c.2443T>G (p.Ser815Ala) c.2338T>G (p.Ser780Ala)
3	g.122284881C>A	CA354161074	CASR	c.2696C>A (p.Ser899Ter) c.2957C>A (p.Ser986Ter) c.2927C>A (p.Ser976Ter) c.2444C>A (p.Ser815Ter) c.2339C>A (p.Ser780Ter)
3	g.122284881C>G	CA354161076	CASR	c.2696C>G (p.Ser899Ter) c.2957C>G (p.Ser986Ter) c.2927C>G (p.Ser976Ter) c.2444C>G (p.Ser815Ter) c.2339C>G (p.Ser780Ter)
3	g.122284881C>T	CA354161075	CASR	c.2696C>T (p.Ser899Leu) c.2957C>T (p.Ser986Leu) c.2927C>T (p.Ser976Leu) c.2444C>T (p.Ser815Leu) c.2339C>T (p.Ser780Leu)
3	g.122284882A=	CA1397873029	CASR	c.2697A= (p.Ser899=) c.2958A= (p.Ser986=) c.2928A= (p.Ser976=) c.2445A= (p.Ser815=) c.2340A= (p.Ser780=)
3	g.122284882A>C	CA435425737	CASR	c.2697A>C (p.Ser899=) c.2958A>C (p.Ser986=) c.2928A>C (p.Ser976=) c.2445A>C (p.Ser815=) c.2340A>C (p.Ser780=)	dbSNP gnomAD v4
3	g.122284882A>G	CA435425738	CASR	c.2697A>G (p.Ser899=) c.2958A>G (p.Ser986=) c.2928A>G (p.Ser976=) c.2445A>G (p.Ser815=) c.2340A>G (p.Ser780=)
3	g.122284882A>T	CA2569893	CASR	c.2697A>T (p.Ser899=) c.2958A>T (p.Ser986=) c.2928A>T (p.Ser976=) c.2445A>T (p.Ser815=) c.2340A>T (p.Ser780=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284883C>A	CA354161077	CASR	c.2698C>A (p.Leu900Met) c.2959C>A (p.Leu987Met) c.2929C>A (p.Leu977Met) c.2446C>A (p.Leu816Met) c.2341C>A (p.Leu781Met)
3	g.122284883C>G	CA354161078	CASR	c.2698C>G (p.Leu900Val) c.2959C>G (p.Leu987Val) c.2929C>G (p.Leu977Val) c.2446C>G (p.Leu816Val) c.2341C>G (p.Leu781Val)
3	g.122284883C>T	CA435425739	CASR	c.2698C>T (p.Leu900=) c.2959C>T (p.Leu987=) c.2929C>T (p.Leu977=) c.2446C>T (p.Leu816=) c.2341C>T (p.Leu781=)
3	g.122284884T>A	CA354161079	CASR	c.2699T>A (p.Leu900Gln) c.2960T>A (p.Leu987Gln) c.2930T>A (p.Leu977Gln) c.2447T>A (p.Leu816Gln) c.2342T>A (p.Leu781Gln)	ClinVar
3	g.122284884T>C	CA354161080	CASR	c.2699T>C (p.Leu900Pro) c.2960T>C (p.Leu987Pro) c.2930T>C (p.Leu977Pro) c.2447T>C (p.Leu816Pro) c.2342T>C (p.Leu781Pro)
3	g.122284884T>G	CA354161081	CASR	c.2699T>G (p.Leu900Arg) c.2960T>G (p.Leu987Arg) c.2930T>G (p.Leu977Arg) c.2447T>G (p.Leu816Arg) c.2342T>G (p.Leu781Arg)	ClinVar
3	g.122284885G>A	CA435425740	CASR	c.2700G>A (p.Leu900=) c.2961G>A (p.Leu987=) c.2931G>A (p.Leu977=) c.2448G>A (p.Leu816=) c.2343G>A (p.Leu781=)
3	g.122284885G>C	CA435425741	CASR	c.2700G>C (p.Leu900=) c.2961G>C (p.Leu987=) c.2931G>C (p.Leu977=) c.2448G>C (p.Leu816=) c.2343G>C (p.Leu781=)
3	g.122284885G>T	CA435425742	CASR	c.2700G>T (p.Leu900=) c.2961G>T (p.Leu987=) c.2931G>T (p.Leu977=) c.2448G>T (p.Leu816=) c.2343G>T (p.Leu781=)
3	g.122284886A>C	CA354161082	CASR	c.2701A>C (p.Ser901Arg) c.2962A>C (p.Ser988Arg) c.2932A>C (p.Ser978Arg) c.2449A>C (p.Ser817Arg) c.2344A>C (p.Ser782Arg)
3	g.122284886A>G	CA354161083	CASR	c.2701A>G (p.Ser901Gly) c.2962A>G (p.Ser988Gly) c.2932A>G (p.Ser978Gly) c.2449A>G (p.Ser817Gly) c.2344A>G (p.Ser782Gly)
3	g.122284886A>T	CA354161084	CASR	c.2701A>T (p.Ser901Cys) c.2962A>T (p.Ser988Cys) c.2932A>T (p.Ser978Cys) c.2449A>T (p.Ser817Cys) c.2344A>T (p.Ser782Cys)
3	g.122284887G>A	CA354161085	CASR	c.2702G>A (p.Ser901Asn) c.2963G>A (p.Ser988Asn) c.2933G>A (p.Ser978Asn) c.2450G>A (p.Ser817Asn) c.2345G>A (p.Ser782Asn)	gnomAD v4
3	g.122284887G>C	CA354161086	CASR	c.2702G>C (p.Ser901Thr) c.2963G>C (p.Ser988Thr) c.2933G>C (p.Ser978Thr) c.2450G>C (p.Ser817Thr) c.2345G>C (p.Ser782Thr)	ClinVar gnomAD v4
3	g.122284887G>T	CA354161087	CASR	c.2702G>T (p.Ser901Ile) c.2963G>T (p.Ser988Ile) c.2933G>T (p.Ser978Ile) c.2450G>T (p.Ser817Ile) c.2345G>T (p.Ser782Ile)
3	g.122284888C>A	CA354161088	CASR	c.2703C>A (p.Ser901Arg) c.2964C>A (p.Ser988Arg) c.2934C>A (p.Ser978Arg) c.2451C>A (p.Ser817Arg) c.2346C>A (p.Ser782Arg)	gnomAD v4
3	g.122284888C=	CA1397873030	CASR	c.2703C= (p.Ser901=) c.2964C= (p.Ser988=) c.2934C= (p.Ser978=) c.2451C= (p.Ser817=) c.2346C= (p.Ser782=)
3	g.122284888C>G	CA354161089	CASR	c.2703C>G (p.Ser901Arg) c.2964C>G (p.Ser988Arg) c.2934C>G (p.Ser978Arg) c.2451C>G (p.Ser817Arg) c.2346C>G (p.Ser782Arg)
3	g.122284888C>T	CA2569894	CASR	c.2703C>T (p.Ser901=) c.2964C>T (p.Ser988=) c.2934C>T (p.Ser978=) c.2451C>T (p.Ser817=) c.2346C>T (p.Ser782=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284889T>A	CA354161090	CASR	c.2704T>A (p.Phe902Ile) c.2965T>A (p.Phe989Ile) c.2935T>A (p.Phe979Ile) c.2452T>A (p.Phe818Ile) c.2347T>A (p.Phe783Ile)
3	g.122284889T>C	CA354161091	CASR	c.2704T>C (p.Phe902Leu) c.2965T>C (p.Phe989Leu) c.2935T>C (p.Phe979Leu) c.2452T>C (p.Phe818Leu) c.2347T>C (p.Phe783Leu)
3	g.122284889T>G	CA354161092	CASR	c.2704T>G (p.Phe902Val) c.2965T>G (p.Phe989Val) c.2935T>G (p.Phe979Val) c.2452T>G (p.Phe818Val) c.2347T>G (p.Phe783Val)	dbSNP
3	g.122284889T=	CA1397873032	CASR	c.2704T= (p.Phe902=) c.2965T= (p.Phe989=) c.2935T= (p.Phe979=) c.2452T= (p.Phe818=) c.2347T= (p.Phe783=)
3	g.122284890T>A	CA354161093	CASR	c.2705T>A (p.Phe902Tyr) c.2966T>A (p.Phe989Tyr) c.2936T>A (p.Phe979Tyr) c.2453T>A (p.Phe818Tyr) c.2348T>A (p.Phe783Tyr)
3	g.122284890T>C	CA354161094	CASR	c.2705T>C (p.Phe902Ser) c.2966T>C (p.Phe989Ser) c.2936T>C (p.Phe979Ser) c.2453T>C (p.Phe818Ser) c.2348T>C (p.Phe783Ser)	COSMIC
3	g.122284890T>G	CA354161095	CASR	c.2705T>G (p.Phe902Cys) c.2966T>G (p.Phe989Cys) c.2936T>G (p.Phe979Cys) c.2453T>G (p.Phe818Cys) c.2348T>G (p.Phe783Cys)
3	g.122284891T>A	CA354161096	CASR	c.2706T>A (p.Phe902Leu) c.2967T>A (p.Phe989Leu) c.2937T>A (p.Phe979Leu) c.2454T>A (p.Phe818Leu) c.2349T>A (p.Phe783Leu)
3	g.122284891T>C	CA435425748	CASR	c.2706T>C (p.Phe902=) c.2967T>C (p.Phe989=) c.2937T>C (p.Phe979=) c.2454T>C (p.Phe818=) c.2349T>C (p.Phe783=)
3	g.122284891T>G	CA354161097	CASR	c.2706T>G (p.Phe902Leu) c.2967T>G (p.Phe989Leu) c.2937T>G (p.Phe979Leu) c.2454T>G (p.Phe818Leu) c.2349T>G (p.Phe783Leu)
3	g.122284892G>A	CA354161098	CASR	c.2707G>A (p.Asp903Asn) c.2968G>A (p.Asp990Asn) c.2938G>A (p.Asp980Asn) c.2455G>A (p.Asp819Asn) c.2350G>A (p.Asp784Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284892G>C	CA354161099	CASR	c.2707G>C (p.Asp903His) c.2968G>C (p.Asp990His) c.2938G>C (p.Asp980His) c.2455G>C (p.Asp819His) c.2350G>C (p.Asp784His)	COSMIC
3	g.122284892G=	CA1397873033	CASR	c.2707G= (p.Asp903=) c.2968G= (p.Asp990=) c.2938G= (p.Asp980=) c.2455G= (p.Asp819=) c.2350G= (p.Asp784=)
3	g.122284892G>T	CA354161100	CASR	c.2707G>T (p.Asp903Tyr) c.2968G>T (p.Asp990Tyr) c.2938G>T (p.Asp980Tyr) c.2455G>T (p.Asp819Tyr) c.2350G>T (p.Asp784Tyr)
3	g.122284893A>C	CA354161103	CASR	c.2708A>C (p.Asp903Ala) c.2969A>C (p.Asp990Ala) c.2939A>C (p.Asp980Ala) c.2456A>C (p.Asp819Ala) c.2351A>C (p.Asp784Ala)
3	g.122284893A>G	CA354161102	CASR	c.2708A>G (p.Asp903Gly) c.2969A>G (p.Asp990Gly) c.2939A>G (p.Asp980Gly) c.2456A>G (p.Asp819Gly) c.2351A>G (p.Asp784Gly)	ClinVar
3	g.122284893A>T	CA354161101	CASR	c.2708A>T (p.Asp903Val) c.2969A>T (p.Asp990Val) c.2939A>T (p.Asp980Val) c.2456A>T (p.Asp819Val) c.2351A>T (p.Asp784Val)
3	g.122284894T>A	CA354161104	CASR	c.2709T>A (p.Asp903Glu) c.2970T>A (p.Asp990Glu) c.2940T>A (p.Asp980Glu) c.2457T>A (p.Asp819Glu) c.2352T>A (p.Asp784Glu)
3	g.122284894T>C	CA435425751	CASR	c.2709T>C (p.Asp903=) c.2970T>C (p.Asp990=) c.2940T>C (p.Asp980=) c.2457T>C (p.Asp819=) c.2352T>C (p.Asp784=)
3	g.122284894T>G	CA354161105	CASR	c.2709T>G (p.Asp903Glu) c.2970T>G (p.Asp990Glu) c.2940T>G (p.Asp980Glu) c.2457T>G (p.Asp819Glu) c.2352T>G (p.Asp784Glu)	gnomAD v4
3	g.122284895G>A	CA354161106	CASR	c.2710G>A (p.Glu904Lys) c.2971G>A (p.Glu991Lys) c.2941G>A (p.Glu981Lys) c.2458G>A (p.Glu820Lys) c.2353G>A (p.Glu785Lys)	ClinVar dbSNP gnomAD v4 COSMIC
3	g.122284895G>C	CA354161107	CASR	c.2710G>C (p.Glu904Gln) c.2971G>C (p.Glu991Gln) c.2941G>C (p.Glu981Gln) c.2458G>C (p.Glu820Gln) c.2353G>C (p.Glu785Gln)
3	g.122284895G=	CA1397873034	CASR	c.2710G= (p.Glu904=) c.2971G= (p.Glu991=) c.2941G= (p.Glu981=) c.2458G= (p.Glu820=) c.2353G= (p.Glu785=)
3	g.122284895G>T	CA354161108	CASR	c.2710G>T (p.Glu904Ter) c.2971G>T (p.Glu991Ter) c.2941G>T (p.Glu981Ter) c.2458G>T (p.Glu820Ter) c.2353G>T (p.Glu785Ter)
3	g.122284896A=	CA1397873037	CASR	c.2711A= (p.Glu904=) c.2972A= (p.Glu991=) c.2942A= (p.Glu981=) c.2459A= (p.Glu820=) c.2354A= (p.Glu785=)
3	g.122284896A>C	CA354161109	CASR	c.2711A>C (p.Glu904Ala) c.2972A>C (p.Glu991Ala) c.2942A>C (p.Glu981Ala) c.2459A>C (p.Glu820Ala) c.2354A>C (p.Glu785Ala)
3	g.122284896A>G	CA82749358	CASR	c.2711A>G (p.Glu904Gly) c.2972A>G (p.Glu991Gly) c.2942A>G (p.Glu981Gly) c.2459A>G (p.Glu820Gly) c.2354A>G (p.Glu785Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284896A>T	CA354161110	CASR	c.2711A>T (p.Glu904Val) c.2972A>T (p.Glu991Val) c.2942A>T (p.Glu981Val) c.2459A>T (p.Glu820Val) c.2354A>T (p.Glu785Val)	ClinVar dbSNP
3	g.122284897G>A	CA435425755	CASR	c.2712G>A (p.Glu904=) c.2973G>A (p.Glu991=) c.2943G>A (p.Glu981=) c.2460G>A (p.Glu820=) c.2355G>A (p.Glu785=)
3	g.122284897G>C	CA354161111	CASR	c.2712G>C (p.Glu904Asp) c.2973G>C (p.Glu991Asp) c.2943G>C (p.Glu981Asp) c.2460G>C (p.Glu820Asp) c.2355G>C (p.Glu785Asp)	gnomAD v4
3	g.122284897G>T	CA354161112	CASR	c.2712G>T (p.Glu904Asp) c.2973G>T (p.Glu991Asp) c.2943G>T (p.Glu981Asp) c.2460G>T (p.Glu820Asp) c.2355G>T (p.Glu785Asp)
3	g.122284899_122284973del	CA2667224801	CASR	c.2714_2788del (p.Pro905_Thr929del) c.2975_3049del (p.Pro992_Thr1016del) c.2945_3019del (p.Pro982_Thr1006del) c.2462_2536del (p.Pro821_Thr845del) c.2357_2431del (p.Pro786_Thr810del)	gnomAD v4
3	g.122284898C>A	CA354161113	CASR	c.2713C>A (p.Pro905Thr) c.2974C>A (p.Pro992Thr) c.2944C>A (p.Pro982Thr) c.2461C>A (p.Pro821Thr) c.2356C>A (p.Pro786Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284898C=	CA1397873041	CASR	c.2713C= (p.Pro905=) c.2974C= (p.Pro992=) c.2944C= (p.Pro982=) c.2461C= (p.Pro821=) c.2356C= (p.Pro786=)
3	g.122284898C>G	CA354161114	CASR	c.2713C>G (p.Pro905Ala) c.2974C>G (p.Pro992Ala) c.2944C>G (p.Pro982Ala) c.2461C>G (p.Pro821Ala) c.2356C>G (p.Pro786Ala)
3	g.122284898C>T	CA216134	CASR	c.2713C>T (p.Pro905Ser) c.2974C>T (p.Pro992Ser) c.2944C>T (p.Pro982Ser) c.2461C>T (p.Pro821Ser) c.2356C>T (p.Pro786Ser)	ClinVar dbSNP
3	g.122284899C>A	CA354161116	CASR	c.2714C>A (p.Pro905His) c.2975C>A (p.Pro992His) c.2945C>A (p.Pro982His) c.2462C>A (p.Pro821His) c.2357C>A (p.Pro786His)
3	g.122284899C>G	CA354161117	CASR	c.2714C>G (p.Pro905Arg) c.2975C>G (p.Pro992Arg) c.2945C>G (p.Pro982Arg) c.2462C>G (p.Pro821Arg) c.2357C>G (p.Pro786Arg)	ClinVar
3	g.122284899C>T	CA354161115	CASR	c.2714C>T (p.Pro905Leu) c.2975C>T (p.Pro992Leu) c.2945C>T (p.Pro982Leu) c.2462C>T (p.Pro821Leu) c.2357C>T (p.Pro786Leu)
3	g.122284899_122284900delinsCT	CA1397873045	CASR	c.2714_2715delinsCT (p.Pro905=) c.2975_2976delinsCT (p.Pro992=) c.2945_2946delinsCT (p.Pro982=) c.2462_2463delinsCT (p.Pro821=) c.2357_2358delinsCT (p.Pro786=)
3	g.122284900del	CA2569895	CASR	c.2715del (p.Gln906ArgfsTer25) c.2976del (p.Gln993ArgfsTer25) c.2946del (p.Gln983ArgfsTer25) c.2463del (p.Gln822ArgfsTer25) c.2358del (p.Gln787ArgfsTer25)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284900T>A	CA435425759	CASR	c.2715T>A (p.Pro905=) c.2976T>A (p.Pro992=) c.2946T>A (p.Pro982=) c.2463T>A (p.Pro821=) c.2358T>A (p.Pro786=)
3	g.122284900T>C	CA435425758	CASR	c.2715T>C (p.Pro905=) c.2976T>C (p.Pro992=) c.2946T>C (p.Pro982=) c.2463T>C (p.Pro821=) c.2358T>C (p.Pro786=)
3	g.122284900T>G	CA435425757	CASR	c.2715T>G (p.Pro905=) c.2976T>G (p.Pro992=) c.2946T>G (p.Pro982=) c.2463T>G (p.Pro821=) c.2358T>G (p.Pro786=)	ClinVar
3	g.122284901C>A	CA354161118	CASR	c.2716C>A (p.Gln906Lys) c.2977C>A (p.Gln993Lys) c.2947C>A (p.Gln983Lys) c.2464C>A (p.Gln822Lys) c.2359C>A (p.Gln787Lys)
3	g.122284901C>G	CA354161120	CASR	c.2716C>G (p.Gln906Glu) c.2977C>G (p.Gln993Glu) c.2947C>G (p.Gln983Glu) c.2464C>G (p.Gln822Glu) c.2359C>G (p.Gln787Glu)	COSMIC
3	g.122284901C>T	CA354161119	CASR	c.2716C>T (p.Gln906Ter) c.2977C>T (p.Gln993Ter) c.2947C>T (p.Gln983Ter) c.2464C>T (p.Gln822Ter) c.2359C>T (p.Gln787Ter)
3	g.122284901_122284904delinsCAGA	CA1397873047	CASR	c.2716_2719delinsCAGA (p.Gln906=) c.2977_2980delinsCAGA (p.Gln993=) c.2947_2950delinsCAGA (p.Gln983=) c.2464_2467delinsCAGA (p.Gln822=) c.2359_2362delinsCAGA (p.Gln787=)
3	g.122284902A=	CA1397873049	CASR	c.2717A= (p.Gln906=) c.2978A= (p.Gln993=) c.2948A= (p.Gln983=) c.2465A= (p.Gln822=) c.2360A= (p.Gln787=)
3	g.122284902A>C	CA354161121	CASR	c.2717A>C (p.Gln906Pro) c.2978A>C (p.Gln993Pro) c.2948A>C (p.Gln983Pro) c.2465A>C (p.Gln822Pro) c.2360A>C (p.Gln787Pro)
3	g.122284902A>G	CA10582123	CASR	c.2717A>G (p.Gln906Arg) c.2978A>G (p.Gln993Arg) c.2948A>G (p.Gln983Arg) c.2465A>G (p.Gln822Arg) c.2360A>G (p.Gln787Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3	g.122284902A>T	CA354161122	CASR	c.2717A>T (p.Gln906Leu) c.2978A>T (p.Gln993Leu) c.2948A>T (p.Gln983Leu) c.2465A>T (p.Gln822Leu) c.2360A>T (p.Gln787Leu)
3	g.122284906_122284908del	CA2569896	CASR	c.2721_2723del (p.Lys907del) c.2982_2984del (p.Lys994del) c.2952_2954del (p.Lys984del) c.2469_2471del (p.Lys823del) c.2364_2366del (p.Lys788del)	ClinVar dbSNP ExAC gnomAD v2
3	g.122284903G>A	CA435425760	CASR	c.2718G>A (p.Gln906=) c.2979G>A (p.Gln993=) c.2949G>A (p.Gln983=) c.2466G>A (p.Gln822=) c.2361G>A (p.Gln787=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284903G>C	CA354161124	CASR	c.2718G>C (p.Gln906His) c.2979G>C (p.Gln993His) c.2949G>C (p.Gln983His) c.2466G>C (p.Gln822His) c.2361G>C (p.Gln787His)
3	g.122284903G=	CA1397873051	CASR	c.2718G= (p.Gln906=) c.2979G= (p.Gln993=) c.2949G= (p.Gln983=) c.2466G= (p.Gln822=) c.2361G= (p.Gln787=)
3	g.122284903G>T	CA354161123	CASR	c.2718G>T (p.Gln906His) c.2979G>T (p.Gln993His) c.2949G>T (p.Gln983His) c.2466G>T (p.Gln822His) c.2361G>T (p.Gln787His)
3	g.122284904A>C	CA354161127	CASR	c.2719A>C (p.Lys907Gln) c.2980A>C (p.Lys994Gln) c.2950A>C (p.Lys984Gln) c.2467A>C (p.Lys823Gln) c.2362A>C (p.Lys788Gln)
3	g.122284904A>G	CA354161125	CASR	c.2719A>G (p.Lys907Glu) c.2980A>G (p.Lys994Glu) c.2950A>G (p.Lys984Glu) c.2467A>G (p.Lys823Glu) c.2362A>G (p.Lys788Glu)
3	g.122284904A>T	CA354161126	CASR	c.2719A>T (p.Lys907Ter) c.2980A>T (p.Lys994Ter) c.2950A>T (p.Lys984Ter) c.2467A>T (p.Lys823Ter) c.2362A>T (p.Lys788Ter)
3	g.122284905A=	CA1397873052	CASR	c.2720A= (p.Lys907=) c.2981A= (p.Lys994=) c.2951A= (p.Lys984=) c.2468A= (p.Lys823=) c.2363A= (p.Lys788=)
3	g.122284905A>C	CA354161128	CASR	c.2720A>C (p.Lys907Thr) c.2981A>C (p.Lys994Thr) c.2951A>C (p.Lys984Thr) c.2468A>C (p.Lys823Thr) c.2363A>C (p.Lys788Thr)
3	g.122284905A>G	CA354161129	CASR	c.2720A>G (p.Lys907Arg) c.2981A>G (p.Lys994Arg) c.2951A>G (p.Lys984Arg) c.2468A>G (p.Lys823Arg) c.2363A>G (p.Lys788Arg)	ClinVar dbSNP
3	g.122284905A>T	CA354161130	CASR	c.2720A>T (p.Lys907Met) c.2981A>T (p.Lys994Met) c.2951A>T (p.Lys984Met) c.2468A>T (p.Lys823Met) c.2363A>T (p.Lys788Met)	ClinVar
3	g.122284906G>A	CA435425763	CASR	c.2721G>A (p.Lys907=) c.2982G>A (p.Lys994=) c.2952G>A (p.Lys984=) c.2469G>A (p.Lys823=) c.2364G>A (p.Lys788=)	ClinVar dbSNP
3	g.122284906G>C	CA354161131	CASR	c.2721G>C (p.Lys907Asn) c.2982G>C (p.Lys994Asn) c.2952G>C (p.Lys984Asn) c.2469G>C (p.Lys823Asn) c.2364G>C (p.Lys788Asn)	ClinVar
3	g.122284906G>T	CA354161132	CASR	c.2721G>T (p.Lys907Asn) c.2982G>T (p.Lys994Asn) c.2952G>T (p.Lys984Asn) c.2469G>T (p.Lys823Asn) c.2364G>T (p.Lys788Asn)	ClinVar
3	g.122284907A>C	CA354161133	CASR	c.2722A>C (p.Asn908His) c.2983A>C (p.Asn995His) c.2953A>C (p.Asn985His) c.2470A>C (p.Asn824His) c.2365A>C (p.Asn789His)
3	g.122284907A>G	CA354161134	CASR	c.2722A>G (p.Asn908Asp) c.2983A>G (p.Asn995Asp) c.2953A>G (p.Asn985Asp) c.2470A>G (p.Asn824Asp) c.2365A>G (p.Asn789Asp)
3	g.122284907A>T	CA354161135	CASR	c.2722A>T (p.Asn908Tyr) c.2983A>T (p.Asn995Tyr) c.2953A>T (p.Asn985Tyr) c.2470A>T (p.Asn824Tyr) c.2365A>T (p.Asn789Tyr)
3	g.122284908A=	CA1397873054	CASR	c.2723A= (p.Asn908=) c.2984A= (p.Asn995=) c.2954A= (p.Asn985=) c.2471A= (p.Asn824=) c.2366A= (p.Asn789=)
3	g.122284908A>C	CA2569897	CASR	c.2723A>C (p.Asn908Thr) c.2984A>C (p.Asn995Thr) c.2954A>C (p.Asn985Thr) c.2471A>C (p.Asn824Thr) c.2366A>C (p.Asn789Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284908A>G	CA354161136	CASR	c.2723A>G (p.Asn908Ser) c.2984A>G (p.Asn995Ser) c.2954A>G (p.Asn985Ser) c.2471A>G (p.Asn824Ser) c.2366A>G (p.Asn789Ser)
3	g.122284908A>T	CA354161137	CASR	c.2723A>T (p.Asn908Ile) c.2984A>T (p.Asn995Ile) c.2954A>T (p.Asn985Ile) c.2471A>T (p.Asn824Ile) c.2366A>T (p.Asn789Ile)
3	g.122284909C>A	CA354161139	CASR	c.2724C>A (p.Asn908Lys) c.2985C>A (p.Asn995Lys) c.2955C>A (p.Asn985Lys) c.2472C>A (p.Asn824Lys) c.2367C>A (p.Asn789Lys)
3	g.122284909C=	CA1397873056	CASR	c.2724C= (p.Asn908=) c.2985C= (p.Asn995=) c.2955C= (p.Asn985=) c.2472C= (p.Asn824=) c.2367C= (p.Asn789=)
3	g.122284909C>G	CA354161138	CASR	c.2724C>G (p.Asn908Lys) c.2985C>G (p.Asn995Lys) c.2955C>G (p.Asn985Lys) c.2472C>G (p.Asn824Lys) c.2367C>G (p.Asn789Lys)	ClinVar gnomAD v4
3	g.122284909C>T	CA2569898	CASR	c.2724C>T (p.Asn908=) c.2985C>T (p.Asn995=) c.2955C>T (p.Asn985=) c.2472C>T (p.Asn824=) c.2367C>T (p.Asn789=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284909_122284910delinsTT	CA2499216416	CASR	c.2724_2725delinsTT (p.Ala909Ser) c.2985_2986delinsTT (p.Ala996Ser) c.2955_2956delinsTT (p.Ala986Ser) c.2472_2473delinsTT (p.Ala825Ser) c.2367_2368delinsTT (p.Ala790Ser)	ClinVar dbSNP
3	g.122284910G>A	CA354161140	CASR	c.2725G>A (p.Ala909Thr) c.2986G>A (p.Ala996Thr) c.2956G>A (p.Ala986Thr) c.2473G>A (p.Ala825Thr) c.2368G>A (p.Ala790Thr)	ClinVar dbSNP gnomAD v4
3	g.122284910G>C	CA354161141	CASR	c.2725G>C (p.Ala909Pro) c.2986G>C (p.Ala996Pro) c.2956G>C (p.Ala986Pro) c.2473G>C (p.Ala825Pro) c.2368G>C (p.Ala790Pro)
3	g.122284910G=	CA1397873060	CASR	c.2725G= (p.Ala909=) c.2986G= (p.Ala996=) c.2956G= (p.Ala986=) c.2473G= (p.Ala825=) c.2368G= (p.Ala790=)
3	g.122284910G>T	CA119531	CASR	c.2725G>T (p.Ala909Ser) c.2986G>T (p.Ala996Ser) c.2956G>T (p.Ala986Ser) c.2473G>T (p.Ala825Ser) c.2368G>T (p.Ala790Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284911C>A	CA354161142	CASR	c.2726C>A (p.Ala909Asp) c.2987C>A (p.Ala996Asp) c.2957C>A (p.Ala986Asp) c.2474C>A (p.Ala825Asp) c.2369C>A (p.Ala790Asp)	ClinVar dbSNP
3	g.122284911C=	CA1397873062	CASR	c.2726C= (p.Ala909=) c.2987C= (p.Ala996=) c.2957C= (p.Ala986=) c.2474C= (p.Ala825=) c.2369C= (p.Ala790=)
3	g.122284911C>G	CA354161143	CASR	c.2726C>G (p.Ala909Gly) c.2987C>G (p.Ala996Gly) c.2957C>G (p.Ala986Gly) c.2474C>G (p.Ala825Gly) c.2369C>G (p.Ala790Gly)
3	g.122284911C>T	CA354161144	CASR	c.2726C>T (p.Ala909Val) c.2987C>T (p.Ala996Val) c.2957C>T (p.Ala986Val) c.2474C>T (p.Ala825Val) c.2369C>T (p.Ala790Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284912C>A	CA435425769	CASR	c.2727C>A (p.Ala909=) c.2988C>A (p.Ala996=) c.2958C>A (p.Ala986=) c.2475C>A (p.Ala825=) c.2370C>A (p.Ala790=)
3	g.122284912C>G	CA435425770	CASR	c.2727C>G (p.Ala909=) c.2988C>G (p.Ala996=) c.2958C>G (p.Ala986=) c.2475C>G (p.Ala825=) c.2370C>G (p.Ala790=)
3	g.122284912C>T	CA435425771	CASR	c.2727C>T (p.Ala909=) c.2988C>T (p.Ala996=) c.2958C>T (p.Ala986=) c.2475C>T (p.Ala825=) c.2370C>T (p.Ala790=)
3	g.122284913A>C	CA354161145	CASR	c.2728A>C (p.Met910Leu) c.2989A>C (p.Met997Leu) c.2959A>C (p.Met987Leu) c.2476A>C (p.Met826Leu) c.2371A>C (p.Met791Leu)
3	g.122284913A>G	CA354161146	CASR	c.2728A>G (p.Met910Val) c.2989A>G (p.Met997Val) c.2959A>G (p.Met987Val) c.2476A>G (p.Met826Val) c.2371A>G (p.Met791Val)	ClinVar dbSNP gnomAD v4
3	g.122284913A>T	CA354161147	CASR	c.2728A>T (p.Met910Leu) c.2989A>T (p.Met997Leu) c.2959A>T (p.Met987Leu) c.2476A>T (p.Met826Leu) c.2371A>T (p.Met791Leu)
3	g.122284914T>A	CA354161148	CASR	c.2729T>A (p.Met910Lys) c.2990T>A (p.Met997Lys) c.2960T>A (p.Met987Lys) c.2477T>A (p.Met826Lys) c.2372T>A (p.Met791Lys)
3	g.122284914T>C	CA354161149	CASR	c.2729T>C (p.Met910Thr) c.2990T>C (p.Met997Thr) c.2960T>C (p.Met987Thr) c.2477T>C (p.Met826Thr) c.2372T>C (p.Met791Thr)
3	g.122284914T>G	CA354161150	CASR	c.2729T>G (p.Met910Arg) c.2990T>G (p.Met997Arg) c.2960T>G (p.Met987Arg) c.2477T>G (p.Met826Arg) c.2372T>G (p.Met791Arg)	ClinVar dbSNP gnomAD v4
3	g.122284914T=	CA1397873063	CASR	c.2729T= (p.Met910=) c.2990T= (p.Met997=) c.2960T= (p.Met987=) c.2477T= (p.Met826=) c.2372T= (p.Met791=)
3	g.122284915G>A	CA354161151	CASR	c.2730G>A (p.Met910Ile) c.2991G>A (p.Met997Ile) c.2961G>A (p.Met987Ile) c.2478G>A (p.Met826Ile) c.2373G>A (p.Met791Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284915G>C	CA354161153	CASR	c.2730G>C (p.Met910Ile) c.2991G>C (p.Met997Ile) c.2961G>C (p.Met987Ile) c.2478G>C (p.Met826Ile) c.2373G>C (p.Met791Ile)
3	g.122284915G=	CA1397873065	CASR	c.2730G= (p.Met910=) c.2991G= (p.Met997=) c.2961G= (p.Met987=) c.2478G= (p.Met826=) c.2373G= (p.Met791=)
3	g.122284915G>T	CA354161152	CASR	c.2730G>T (p.Met910Ile) c.2991G>T (p.Met997Ile) c.2961G>T (p.Met987Ile) c.2478G>T (p.Met826Ile) c.2373G>T (p.Met791Ile)
3	g.122284916G>A	CA82749374	CASR	c.2731G>A (p.Ala911Thr) c.2992G>A (p.Ala998Thr) c.2962G>A (p.Ala988Thr) c.2479G>A (p.Ala827Thr) c.2374G>A (p.Ala792Thr)	dbSNP gnomAD v3 gnomAD v4
3	g.122284916G>C	CA354161154	CASR	c.2731G>C (p.Ala911Pro) c.2992G>C (p.Ala998Pro) c.2962G>C (p.Ala988Pro) c.2479G>C (p.Ala827Pro) c.2374G>C (p.Ala792Pro)
3	g.122284916G=	CA1397873067	CASR	c.2731G= (p.Ala911=) c.2992G= (p.Ala998=) c.2962G= (p.Ala988=) c.2479G= (p.Ala827=) c.2374G= (p.Ala792=)
3	g.122284916G>T	CA354161155	CASR	c.2731G>T (p.Ala911Ser) c.2992G>T (p.Ala998Ser) c.2962G>T (p.Ala988Ser) c.2479G>T (p.Ala827Ser) c.2374G>T (p.Ala792Ser)
3	g.122284917C>A	CA354161156	CASR	c.2732C>A (p.Ala911Asp) c.2993C>A (p.Ala998Asp) c.2963C>A (p.Ala988Asp) c.2480C>A (p.Ala827Asp) c.2375C>A (p.Ala792Asp)
3	g.122284917C=	CA1397873068	CASR	c.2732C= (p.Ala911=) c.2993C= (p.Ala998=) c.2963C= (p.Ala988=) c.2480C= (p.Ala827=) c.2375C= (p.Ala792=)
3	g.122284917C>G	CA354161157	CASR	c.2732C>G (p.Ala911Gly) c.2993C>G (p.Ala998Gly) c.2963C>G (p.Ala988Gly) c.2480C>G (p.Ala827Gly) c.2375C>G (p.Ala792Gly)
3	g.122284917C>T	CA2569899	CASR	c.2732C>T (p.Ala911Val) c.2993C>T (p.Ala998Val) c.2963C>T (p.Ala988Val) c.2480C>T (p.Ala827Val) c.2375C>T (p.Ala792Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284918C>A	CA435425776	CASR	c.2733C>A (p.Ala911=) c.2994C>A (p.Ala998=) c.2964C>A (p.Ala988=) c.2481C>A (p.Ala827=) c.2376C>A (p.Ala792=)
3	g.122284918C=	CA1397873070	CASR	c.2733C= (p.Ala911=) c.2994C= (p.Ala998=) c.2964C= (p.Ala988=) c.2481C= (p.Ala827=) c.2376C= (p.Ala792=)
3	g.122284918C>G	CA82749380	CASR	c.2733C>G (p.Ala911=) c.2994C>G (p.Ala998=) c.2964C>G (p.Ala988=) c.2481C>G (p.Ala827=) c.2376C>G (p.Ala792=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284918C>T	CA435425777	CASR	c.2733C>T (p.Ala911=) c.2994C>T (p.Ala998=) c.2964C>T (p.Ala988=) c.2481C>T (p.Ala827=) c.2376C>T (p.Ala792=)
3	g.122284919C>A	CA354161158	CASR	c.2734C>A (p.His912Asn) c.2995C>A (p.His999Asn) c.2965C>A (p.His989Asn) c.2482C>A (p.His828Asn) c.2377C>A (p.His793Asn)	dbSNP gnomAD v4
3	g.122284919C=	CA1397873072	CASR	c.2734C= (p.His912=) c.2995C= (p.His999=) c.2965C= (p.His989=) c.2482C= (p.His828=) c.2377C= (p.His793=)
3	g.122284919C>G	CA354161159	CASR	c.2734C>G (p.His912Asp) c.2995C>G (p.His999Asp) c.2965C>G (p.His989Asp) c.2482C>G (p.His828Asp) c.2377C>G (p.His793Asp)
3	g.122284919C>T	CA354161160	CASR	c.2734C>T (p.His912Tyr) c.2995C>T (p.His999Tyr) c.2965C>T (p.His989Tyr) c.2482C>T (p.His828Tyr) c.2377C>T (p.His793Tyr)	ClinVar dbSNP gnomAD v4
3	g.122284920A=	CA1397873073	CASR	c.2735A= (p.His912=) c.2996A= (p.His999=) c.2966A= (p.His989=) c.2483A= (p.His828=) c.2378A= (p.His793=)
3	g.122284920A>C	CA354161161	CASR	c.2735A>C (p.His912Pro) c.2996A>C (p.His999Pro) c.2966A>C (p.His989Pro) c.2483A>C (p.His828Pro) c.2378A>C (p.His793Pro)
3	g.122284920A>G	CA354161162	CASR	c.2735A>G (p.His912Arg) c.2996A>G (p.His999Arg) c.2966A>G (p.His989Arg) c.2483A>G (p.His828Arg) c.2378A>G (p.His793Arg)	dbSNP gnomAD v4
3	g.122284920A>T	CA354161163	CASR	c.2735A>T (p.His912Leu) c.2996A>T (p.His999Leu) c.2966A>T (p.His989Leu) c.2483A>T (p.His828Leu) c.2378A>T (p.His793Leu)
3	g.122284921C>A	CA354161164	CASR	c.2736C>A (p.His912Gln) c.2997C>A (p.His999Gln) c.2967C>A (p.His989Gln) c.2484C>A (p.His828Gln) c.2379C>A (p.His793Gln)
3	g.122284921C>G	CA354161165	CASR	c.2736C>G (p.His912Gln) c.2997C>G (p.His999Gln) c.2967C>G (p.His989Gln) c.2484C>G (p.His828Gln) c.2379C>G (p.His793Gln)
3	g.122284921C>T	CA435425779	CASR	c.2736C>T (p.His912=) c.2997C>T (p.His999=) c.2967C>T (p.His989=) c.2484C>T (p.His828=) c.2379C>T (p.His793=)	gnomAD v4
3	g.122284922A=	CA1397873076	CASR	c.2737A= (p.Arg913=) c.2998A= (p.Arg1000=) c.2968A= (p.Arg990=) c.2485A= (p.Arg829=) c.2380A= (p.Arg794=)
3	g.122284922A>C	CA435425780	CASR	c.2737A>C (p.Arg913=) c.2998A>C (p.Arg1000=) c.2968A>C (p.Arg990=) c.2485A>C (p.Arg829=) c.2380A>C (p.Arg794=)
3	g.122284922A>G	CA203219	CASR	c.2737A>G (p.Arg913Gly) c.2998A>G (p.Arg1000Gly) c.2968A>G (p.Arg990Gly) c.2485A>G (p.Arg829Gly) c.2380A>G (p.Arg794Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284922A>T	CA354161166	CASR	c.2737A>T (p.Arg913Trp) c.2998A>T (p.Arg1000Trp) c.2968A>T (p.Arg990Trp) c.2485A>T (p.Arg829Trp) c.2380A>T (p.Arg794Trp)
3	g.122284923G>A	CA354161167	CASR	c.2738G>A (p.Arg913Lys) c.2999G>A (p.Arg1000Lys) c.2969G>A (p.Arg990Lys) c.2486G>A (p.Arg829Lys) c.2381G>A (p.Arg794Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284923G>C	CA354161168	CASR	c.2738G>C (p.Arg913Thr) c.2999G>C (p.Arg1000Thr) c.2969G>C (p.Arg990Thr) c.2486G>C (p.Arg829Thr) c.2381G>C (p.Arg794Thr)
3	g.122284923G=	CA1397873077	CASR	c.2738G= (p.Arg913=) c.2999G= (p.Arg1000=) c.2969G= (p.Arg990=) c.2486G= (p.Arg829=) c.2381G= (p.Arg794=)
3	g.122284923G>T	CA354161169	CASR	c.2738G>T (p.Arg913Met) c.2999G>T (p.Arg1000Met) c.2969G>T (p.Arg990Met) c.2486G>T (p.Arg829Met) c.2381G>T (p.Arg794Met)
3	g.122284924G>A	CA2569900	CASR	c.2739G>A (p.Arg913=) c.3000G>A (p.Arg1000=) c.2970G>A (p.Arg990=) c.2487G>A (p.Arg829=) c.2382G>A (p.Arg794=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122284924G>C	CA354161170	CASR	c.2739G>C (p.Arg913Ser) c.3000G>C (p.Arg1000Ser) c.2970G>C (p.Arg990Ser) c.2487G>C (p.Arg829Ser) c.2382G>C (p.Arg794Ser)
3	g.122284924G=	CA1397873079	CASR	c.2739G= (p.Arg913=) c.3000G= (p.Arg1000=) c.2970G= (p.Arg990=) c.2487G= (p.Arg829=) c.2382G= (p.Arg794=)
3	g.122284924G>T	CA354161171	CASR	c.2739G>T (p.Arg913Ser) c.3000G>T (p.Arg1000Ser) c.2970G>T (p.Arg990Ser) c.2487G>T (p.Arg829Ser) c.2382G>T (p.Arg794Ser)
3	g.122284925A=	CA1397873081	CASR	c.2740A= (p.Asn914=) c.3001A= (p.Asn1001=) c.2971A= (p.Asn991=) c.2488A= (p.Asn830=) c.2383A= (p.Asn795=)
3	g.122284925A>C	CA354161172	CASR	c.2740A>C (p.Asn914His) c.3001A>C (p.Asn1001His) c.2971A>C (p.Asn991His) c.2488A>C (p.Asn830His) c.2383A>C (p.Asn795His)	ClinVar dbSNP
3	g.122284925A>G	CA354161173	CASR	c.2740A>G (p.Asn914Asp) c.3001A>G (p.Asn1001Asp) c.2971A>G (p.Asn991Asp) c.2488A>G (p.Asn830Asp) c.2383A>G (p.Asn795Asp)
3	g.122284925A>T	CA354161174	CASR	c.2740A>T (p.Asn914Tyr) c.3001A>T (p.Asn1001Tyr) c.2971A>T (p.Asn991Tyr) c.2488A>T (p.Asn830Tyr) c.2383A>T (p.Asn795Tyr)
3	g.122284926A>C	CA354161176	CASR	c.2741A>C (p.Asn914Thr) c.3002A>C (p.Asn1001Thr) c.2972A>C (p.Asn991Thr) c.2489A>C (p.Asn830Thr) c.2384A>C (p.Asn795Thr)
3	g.122284926A>G	CA354161177	CASR	c.2741A>G (p.Asn914Ser) c.3002A>G (p.Asn1001Ser) c.2972A>G (p.Asn991Ser) c.2489A>G (p.Asn830Ser) c.2384A>G (p.Asn795Ser)	COSMIC
3	g.122284926A>T	CA354161175	CASR	c.2741A>T (p.Asn914Ile) c.3002A>T (p.Asn1001Ile) c.2972A>T (p.Asn991Ile) c.2489A>T (p.Asn830Ile) c.2384A>T (p.Asn795Ile)
3	g.122284927T>A	CA354161179	CASR	c.2742T>A (p.Asn914Lys) c.3003T>A (p.Asn1001Lys) c.2973T>A (p.Asn991Lys) c.2490T>A (p.Asn830Lys) c.2385T>A (p.Asn795Lys)	ClinVar
3	g.122284927T>C	CA435425782	CASR	c.2742T>C (p.Asn914=) c.3003T>C (p.Asn1001=) c.2973T>C (p.Asn991=) c.2490T>C (p.Asn830=) c.2385T>C (p.Asn795=)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284927T>G	CA354161178	CASR	c.2742T>G (p.Asn914Lys) c.3003T>G (p.Asn1001Lys) c.2973T>G (p.Asn991Lys) c.2490T>G (p.Asn830Lys) c.2385T>G (p.Asn795Lys)
3	g.122284927T=	CA1397873083	CASR	c.2742T= (p.Asn914=) c.3003T= (p.Asn1001=) c.2973T= (p.Asn991=) c.2490T= (p.Asn830=) c.2385T= (p.Asn795=)
3	g.122284928T>A	CA354161180	CASR	c.2743T>A (p.Ser915Thr) c.3004T>A (p.Ser1002Thr) c.2974T>A (p.Ser992Thr) c.2491T>A (p.Ser831Thr) c.2386T>A (p.Ser796Thr)
3	g.122284928T>C	CA354161181	CASR	c.2743T>C (p.Ser915Pro) c.3004T>C (p.Ser1002Pro) c.2974T>C (p.Ser992Pro) c.2491T>C (p.Ser831Pro) c.2386T>C (p.Ser796Pro)
3	g.122284928T>G	CA354161182	CASR	c.2743T>G (p.Ser915Ala) c.3004T>G (p.Ser1002Ala) c.2974T>G (p.Ser992Ala) c.2491T>G (p.Ser831Ala) c.2386T>G (p.Ser796Ala)
3	g.122284929C>A	CA354161183	CASR	c.2744C>A (p.Ser915Tyr) c.3005C>A (p.Ser1002Tyr) c.2975C>A (p.Ser992Tyr) c.2492C>A (p.Ser831Tyr) c.2387C>A (p.Ser796Tyr)	gnomAD v4
3	g.122284929C>G	CA354161184	CASR	c.2744C>G (p.Ser915Cys) c.3005C>G (p.Ser1002Cys) c.2975C>G (p.Ser992Cys) c.2492C>G (p.Ser831Cys) c.2387C>G (p.Ser796Cys)
3	g.122284929C>T	CA354161185	CASR	c.2744C>T (p.Ser915Phe) c.3005C>T (p.Ser1002Phe) c.2975C>T (p.Ser992Phe) c.2492C>T (p.Ser831Phe) c.2387C>T (p.Ser796Phe)
3	g.122284930T>A	CA435425786	CASR	c.2745T>A (p.Ser915=) c.3006T>A (p.Ser1002=) c.2976T>A (p.Ser992=) c.2493T>A (p.Ser831=) c.2388T>A (p.Ser796=)
3	g.122284930T>C	CA435425787	CASR	c.2745T>C (p.Ser915=) c.3006T>C (p.Ser1002=) c.2976T>C (p.Ser992=) c.2493T>C (p.Ser831=) c.2388T>C (p.Ser796=)	ClinVar dbSNP
3	g.122284930T>G	CA435425789	CASR	c.2745T>G (p.Ser915=) c.3006T>G (p.Ser1002=) c.2976T>G (p.Ser992=) c.2493T>G (p.Ser831=) c.2388T>G (p.Ser796=)
3	g.122284931A>C	CA354161186	CASR	c.2746A>C (p.Thr916Pro) c.3007A>C (p.Thr1003Pro) c.2977A>C (p.Thr993Pro) c.2494A>C (p.Thr832Pro) c.2389A>C (p.Thr797Pro)
3	g.122284931A>G	CA354161187	CASR	c.2746A>G (p.Thr916Ala) c.3007A>G (p.Thr1003Ala) c.2977A>G (p.Thr993Ala) c.2494A>G (p.Thr832Ala) c.2389A>G (p.Thr797Ala)
3	g.122284931A>T	CA354161188	CASR	c.2746A>T (p.Thr916Ser) c.3007A>T (p.Thr1003Ser) c.2977A>T (p.Thr993Ser) c.2494A>T (p.Thr832Ser) c.2389A>T (p.Thr797Ser)	gnomAD v4
3	g.122284932C>A	CA354161189	CASR	c.2747C>A (p.Thr916Lys) c.3008C>A (p.Thr1003Lys) c.2978C>A (p.Thr993Lys) c.2495C>A (p.Thr832Lys) c.2390C>A (p.Thr797Lys)
3	g.122284932C=	CA1397873085	CASR	c.2747C= (p.Thr916=) c.3008C= (p.Thr1003=) c.2978C= (p.Thr993=) c.2495C= (p.Thr832=) c.2390C= (p.Thr797=)
3	g.122284932C>G	CA354161190	CASR	c.2747C>G (p.Thr916Arg) c.3008C>G (p.Thr1003Arg) c.2978C>G (p.Thr993Arg) c.2495C>G (p.Thr832Arg) c.2390C>G (p.Thr797Arg)
3	g.122284932C>T	CA2569901	CASR	c.2747C>T (p.Thr916Met) c.3008C>T (p.Thr1003Met) c.2978C>T (p.Thr993Met) c.2495C>T (p.Thr832Met) c.2390C>T (p.Thr797Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122284933G>A	CA82749391	CASR	c.2748G>A (p.Thr916=) c.3009G>A (p.Thr1003=) c.2979G>A (p.Thr993=) c.2496G>A (p.Thr832=) c.2391G>A (p.Thr797=)	ClinVar dbSNP gnomAD v4
3	g.122284933G>C	CA435425497	CASR	c.2748G>C (p.Thr916=) c.3009G>C (p.Thr1003=) c.2979G>C (p.Thr993=) c.2496G>C (p.Thr832=) c.2391G>C (p.Thr797=)	ClinVar
3	g.122284933G=	CA1397873088	CASR	c.2748G= (p.Thr916=) c.3009G= (p.Thr1003=) c.2979G= (p.Thr993=) c.2496G= (p.Thr832=) c.2391G= (p.Thr797=)
3	g.122284933G>T	CA435425498	CASR	c.2748G>T (p.Thr916=) c.3009G>T (p.Thr1003=) c.2979G>T (p.Thr993=) c.2496G>T (p.Thr832=) c.2391G>T (p.Thr797=)	gnomAD v4 COSMIC
3	g.122284934C>A	CA354161191	CASR	c.2749C>A (p.His917Asn) c.3010C>A (p.His1004Asn) c.2980C>A (p.His994Asn) c.2497C>A (p.His833Asn) c.2392C>A (p.His798Asn)
3	g.122284934C=	CA1397873090	CASR	c.2749C= (p.His917=) c.3010C= (p.His1004=) c.2980C= (p.His994=) c.2497C= (p.His833=) c.2392C= (p.His798=)
3	g.122284934C>G	CA354161193	CASR	c.2749C>G (p.His917Asp) c.3010C>G (p.His1004Asp) c.2980C>G (p.His994Asp) c.2497C>G (p.His833Asp) c.2392C>G (p.His798Asp)
3	g.122284934C>T	CA354161192	CASR	c.2749C>T (p.His917Tyr) c.3010C>T (p.His1004Tyr) c.2980C>T (p.His994Tyr) c.2497C>T (p.His833Tyr) c.2392C>T (p.His798Tyr)	ClinVar dbSNP gnomAD v4
3	g.122284935A>C	CA354161194	CASR	c.2750A>C (p.His917Pro) c.3011A>C (p.His1004Pro) c.2981A>C (p.His994Pro) c.2498A>C (p.His833Pro) c.2393A>C (p.His798Pro)	ClinVar
3	g.122284935A>G	CA354161195	CASR	c.2750A>G (p.His917Arg) c.3011A>G (p.His1004Arg) c.2981A>G (p.His994Arg) c.2498A>G (p.His833Arg) c.2393A>G (p.His798Arg)
3	g.122284935A>T	CA354161196	CASR	c.2750A>T (p.His917Leu) c.3011A>T (p.His1004Leu) c.2981A>T (p.His994Leu) c.2498A>T (p.His833Leu) c.2393A>T (p.His798Leu)
3	g.122284936C>A	CA354161197	CASR	c.2751C>A (p.His917Gln) c.3012C>A (p.His1004Gln) c.2982C>A (p.His994Gln) c.2499C>A (p.His833Gln) c.2394C>A (p.His798Gln)
3	g.122284936C>G	CA354161198	CASR	c.2751C>G (p.His917Gln) c.3012C>G (p.His1004Gln) c.2982C>G (p.His994Gln) c.2499C>G (p.His833Gln) c.2394C>G (p.His798Gln)	ClinVar dbSNP gnomAD v4
3	g.122284936C>T	CA435425503	CASR	c.2751C>T (p.His917=) c.3012C>T (p.His1004=) c.2982C>T (p.His994=) c.2499C>T (p.His833=) c.2394C>T (p.His798=)
3	g.122284937C>A	CA354161199	CASR	c.2752C>A (p.Gln918Lys) c.3013C>A (p.Gln1005Lys) c.2983C>A (p.Gln995Lys) c.2500C>A (p.Gln834Lys) c.2395C>A (p.Gln799Lys)	ClinVar
3	g.122284937C>G	CA354161200	CASR	c.2752C>G (p.Gln918Glu) c.3013C>G (p.Gln1005Glu) c.2983C>G (p.Gln995Glu) c.2500C>G (p.Gln834Glu) c.2395C>G (p.Gln799Glu)
3	g.122284937C>T	CA354161201	CASR	c.2752C>T (p.Gln918Ter) c.3013C>T (p.Gln1005Ter) c.2983C>T (p.Gln995Ter) c.2500C>T (p.Gln834Ter) c.2395C>T (p.Gln799Ter)
3	g.122284938A>C	CA354161202	CASR	c.2753A>C (p.Gln918Pro) c.3014A>C (p.Gln1005Pro) c.2984A>C (p.Gln995Pro) c.2501A>C (p.Gln834Pro) c.2396A>C (p.Gln799Pro)
3	g.122284938A>G	CA354161203	CASR	c.2753A>G (p.Gln918Arg) c.3014A>G (p.Gln1005Arg) c.2984A>G (p.Gln995Arg) c.2501A>G (p.Gln834Arg) c.2396A>G (p.Gln799Arg)
3	g.122284938A>T	CA354161204	CASR	c.2753A>T (p.Gln918Leu) c.3014A>T (p.Gln1005Leu) c.2984A>T (p.Gln995Leu) c.2501A>T (p.Gln834Leu) c.2396A>T (p.Gln799Leu)
3	g.122284939G>A	CA435425504	CASR	c.2754G>A (p.Gln918=) c.3015G>A (p.Gln1005=) c.2985G>A (p.Gln995=) c.2502G>A (p.Gln834=) c.2397G>A (p.Gln799=)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284939G>C	CA82749393	CASR	c.2754G>C (p.Gln918His) c.3015G>C (p.Gln1005His) c.2985G>C (p.Gln995His) c.2502G>C (p.Gln834His) c.2397G>C (p.Gln799His)	ClinVar dbSNP gnomAD v4
3	g.122284939G=	CA1397873093	CASR	c.2754G= (p.Gln918=) c.3015G= (p.Gln1005=) c.2985G= (p.Gln995=) c.2502G= (p.Gln834=) c.2397G= (p.Gln799=)
3	g.122284939G>T	CA354161205	CASR	c.2754G>T (p.Gln918His) c.3015G>T (p.Gln1005His) c.2985G>T (p.Gln995His) c.2502G>T (p.Gln834His) c.2397G>T (p.Gln799His)

Number of alleles fetched