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.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.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.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)
3	g.122284940A=	CA1397873094	CASR	c.2755A= (p.Asn919=) c.3016A= (p.Asn1006=) c.2986A= (p.Asn996=) c.2503A= (p.Asn835=) c.2398A= (p.Asn800=)
3	g.122284940A>C	CA354161206	CASR	c.2755A>C (p.Asn919His) c.3016A>C (p.Asn1006His) c.2986A>C (p.Asn996His) c.2503A>C (p.Asn835His) c.2398A>C (p.Asn800His)	ClinVar dbSNP
3	g.122284940A>G	CA354161208	CASR	c.2755A>G (p.Asn919Asp) c.3016A>G (p.Asn1006Asp) c.2986A>G (p.Asn996Asp) c.2503A>G (p.Asn835Asp) c.2398A>G (p.Asn800Asp)
3	g.122284940A>T	CA354161207	CASR	c.2755A>T (p.Asn919Tyr) c.3016A>T (p.Asn1006Tyr) c.2986A>T (p.Asn996Tyr) c.2503A>T (p.Asn835Tyr) c.2398A>T (p.Asn800Tyr)
3	g.122284941A=	CA1397873096	CASR	c.2756A= (p.Asn919=) c.3017A= (p.Asn1006=) c.2987A= (p.Asn996=) c.2504A= (p.Asn835=) c.2399A= (p.Asn800=)
3	g.122284941A>C	CA2569902	CASR	c.2756A>C (p.Asn919Thr) c.3017A>C (p.Asn1006Thr) c.2987A>C (p.Asn996Thr) c.2504A>C (p.Asn835Thr) c.2399A>C (p.Asn800Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284941A>G	CA354161209	CASR	c.2756A>G (p.Asn919Ser) c.3017A>G (p.Asn1006Ser) c.2987A>G (p.Asn996Ser) c.2504A>G (p.Asn835Ser) c.2399A>G (p.Asn800Ser)
3	g.122284941A>T	CA354161210	CASR	c.2756A>T (p.Asn919Ile) c.3017A>T (p.Asn1006Ile) c.2987A>T (p.Asn996Ile) c.2504A>T (p.Asn835Ile) c.2399A>T (p.Asn800Ile)
3	g.122284942C>A	CA354161211	CASR	c.2757C>A (p.Asn919Lys) c.3018C>A (p.Asn1006Lys) c.2988C>A (p.Asn996Lys) c.2505C>A (p.Asn835Lys) c.2400C>A (p.Asn800Lys)
3	g.122284942C>G	CA354161212	CASR	c.2757C>G (p.Asn919Lys) c.3018C>G (p.Asn1006Lys) c.2988C>G (p.Asn996Lys) c.2505C>G (p.Asn835Lys) c.2400C>G (p.Asn800Lys)
3	g.122284942C>T	CA435425507	CASR	c.2757C>T (p.Asn919=) c.3018C>T (p.Asn1006=) c.2988C>T (p.Asn996=) c.2505C>T (p.Asn835=) c.2400C>T (p.Asn800=)
3	g.122284943T>A	CA354161213	CASR	c.2758T>A (p.Ser920Thr) c.3019T>A (p.Ser1007Thr) c.2989T>A (p.Ser997Thr) c.2506T>A (p.Ser836Thr) c.2401T>A (p.Ser801Thr)
3	g.122284943T>C	CA354161214	CASR	c.2758T>C (p.Ser920Pro) c.3019T>C (p.Ser1007Pro) c.2989T>C (p.Ser997Pro) c.2506T>C (p.Ser836Pro) c.2401T>C (p.Ser801Pro)
3	g.122284943T>G	CA354161215	CASR	c.2758T>G (p.Ser920Ala) c.3019T>G (p.Ser1007Ala) c.2989T>G (p.Ser997Ala) c.2506T>G (p.Ser836Ala) c.2401T>G (p.Ser801Ala)
3	g.122284944C>A	CA354161216	CASR	c.2759C>A (p.Ser920Tyr) c.3020C>A (p.Ser1007Tyr) c.2990C>A (p.Ser997Tyr) c.2507C>A (p.Ser836Tyr) c.2402C>A (p.Ser801Tyr)	ClinVar dbSNP
3	g.122284944C=	CA1397873098	CASR	c.2759C= (p.Ser920=) c.3020C= (p.Ser1007=) c.2990C= (p.Ser997=) c.2507C= (p.Ser836=) c.2402C= (p.Ser801=)
3	g.122284944C>G	CA354161217	CASR	c.2759C>G (p.Ser920Cys) c.3020C>G (p.Ser1007Cys) c.2990C>G (p.Ser997Cys) c.2507C>G (p.Ser836Cys) c.2402C>G (p.Ser801Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284944C>T	CA354161218	CASR	c.2759C>T (p.Ser920Phe) c.3020C>T (p.Ser1007Phe) c.2990C>T (p.Ser997Phe) c.2507C>T (p.Ser836Phe) c.2402C>T (p.Ser801Phe)	ClinVar dbSNP COSMIC
3	g.122284945C>A	CA435425511	CASR	c.2760C>A (p.Ser920=) c.3021C>A (p.Ser1007=) c.2991C>A (p.Ser997=) c.2508C>A (p.Ser836=) c.2403C>A (p.Ser801=)
3	g.122284945C=	CA1397873101	CASR	c.2760C= (p.Ser920=) c.3021C= (p.Ser1007=) c.2991C= (p.Ser997=) c.2508C= (p.Ser836=) c.2403C= (p.Ser801=)
3	g.122284945C>G	CA435425513	CASR	c.2760C>G (p.Ser920=) c.3021C>G (p.Ser1007=) c.2991C>G (p.Ser997=) c.2508C>G (p.Ser836=) c.2403C>G (p.Ser801=)	ClinVar
3	g.122284945C>T	CA82749401	CASR	c.2760C>T (p.Ser920=) c.3021C>T (p.Ser1007=) c.2991C>T (p.Ser997=) c.2508C>T (p.Ser836=) c.2403C>T (p.Ser801=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122284946C>A	CA354161219	CASR	c.2761C>A (p.Leu921Met) c.3022C>A (p.Leu1008Met) c.2992C>A (p.Leu998Met) c.2509C>A (p.Leu837Met) c.2404C>A (p.Leu802Met)
3	g.122284946C>G	CA354161220	CASR	c.2761C>G (p.Leu921Val) c.3022C>G (p.Leu1008Val) c.2992C>G (p.Leu998Val) c.2509C>G (p.Leu837Val) c.2404C>G (p.Leu802Val)
3	g.122284946C>T	CA435425514	CASR	c.2761C>T (p.Leu921=) c.3022C>T (p.Leu1008=) c.2992C>T (p.Leu998=) c.2509C>T (p.Leu837=) c.2404C>T (p.Leu802=)	gnomAD v4
3	g.122284947T>A	CA354161221	CASR	c.2762T>A (p.Leu921Gln) c.3023T>A (p.Leu1008Gln) c.2993T>A (p.Leu998Gln) c.2510T>A (p.Leu837Gln) c.2405T>A (p.Leu802Gln)	ClinVar
3	g.122284947T>C	CA354161222	CASR	c.2762T>C (p.Leu921Pro) c.3023T>C (p.Leu1008Pro) c.2993T>C (p.Leu998Pro) c.2510T>C (p.Leu837Pro) c.2405T>C (p.Leu802Pro)
3	g.122284947T>G	CA354161223	CASR	c.2762T>G (p.Leu921Arg) c.3023T>G (p.Leu1008Arg) c.2993T>G (p.Leu998Arg) c.2510T>G (p.Leu837Arg) c.2405T>G (p.Leu802Arg)
3	g.122284948G>A	CA2569903	CASR	c.2763G>A (p.Leu921=) c.3024G>A (p.Leu1008=) c.2994G>A (p.Leu998=) c.2511G>A (p.Leu837=) c.2406G>A (p.Leu802=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284948G>C	CA435425515	CASR	c.2763G>C (p.Leu921=) c.3024G>C (p.Leu1008=) c.2994G>C (p.Leu998=) c.2511G>C (p.Leu837=) c.2406G>C (p.Leu802=)
3	g.122284948G=	CA1397873103	CASR	c.2763G= (p.Leu921=) c.3024G= (p.Leu1008=) c.2994G= (p.Leu998=) c.2511G= (p.Leu837=) c.2406G= (p.Leu802=)
3	g.122284948G>T	CA435425516	CASR	c.2763G>T (p.Leu921=) c.3024G>T (p.Leu1008=) c.2994G>T (p.Leu998=) c.2511G>T (p.Leu837=) c.2406G>T (p.Leu802=)
3	g.122284949G>A	CA354161224	CASR	c.2764G>A (p.Glu922Lys) c.3025G>A (p.Glu1009Lys) c.2995G>A (p.Glu999Lys) c.2512G>A (p.Glu838Lys) c.2407G>A (p.Glu803Lys)	ClinVar dbSNP gnomAD v4
3	g.122284949G>C	CA354161225	CASR	c.2764G>C (p.Glu922Gln) c.3025G>C (p.Glu1009Gln) c.2995G>C (p.Glu999Gln) c.2512G>C (p.Glu838Gln) c.2407G>C (p.Glu803Gln)
3	g.122284949G=	CA1397873105	CASR	c.2764G= (p.Glu922=) c.3025G= (p.Glu1009=) c.2995G= (p.Glu999=) c.2512G= (p.Glu838=) c.2407G= (p.Glu803=)
3	g.122284949G>T	CA354161226	CASR	c.2764G>T (p.Glu922Ter) c.3025G>T (p.Glu1009Ter) c.2995G>T (p.Glu999Ter) c.2512G>T (p.Glu838Ter) c.2407G>T (p.Glu803Ter)
3	g.122284950A=	CA1397873107	CASR	c.2765A= (p.Glu922=) c.3026A= (p.Glu1009=) c.2996A= (p.Glu999=) c.2513A= (p.Glu838=) c.2408A= (p.Glu803=)
3	g.122284950A>C	CA82749408	CASR	c.2765A>C (p.Glu922Ala) c.3026A>C (p.Glu1009Ala) c.2996A>C (p.Glu999Ala) c.2513A>C (p.Glu838Ala) c.2408A>C (p.Glu803Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284950A>G	CA354161227	CASR	c.2765A>G (p.Glu922Gly) c.3026A>G (p.Glu1009Gly) c.2996A>G (p.Glu999Gly) c.2513A>G (p.Glu838Gly) c.2408A>G (p.Glu803Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284950A>T	CA354161228	CASR	c.2765A>T (p.Glu922Val) c.3026A>T (p.Glu1009Val) c.2996A>T (p.Glu999Val) c.2513A>T (p.Glu838Val) c.2408A>T (p.Glu803Val)	ClinVar dbSNP
3	g.122284951G>A	CA435425521	CASR	c.2766G>A (p.Glu922=) c.3027G>A (p.Glu1009=) c.2997G>A (p.Glu999=) c.2514G>A (p.Glu838=) c.2409G>A (p.Glu803=)	gnomAD v4
3	g.122284951G>C	CA354161229	CASR	c.2766G>C (p.Glu922Asp) c.3027G>C (p.Glu1009Asp) c.2997G>C (p.Glu999Asp) c.2514G>C (p.Glu838Asp) c.2409G>C (p.Glu803Asp)
3	g.122284951G>T	CA354161230	CASR	c.2766G>T (p.Glu922Asp) c.3027G>T (p.Glu1009Asp) c.2997G>T (p.Glu999Asp) c.2514G>T (p.Glu838Asp) c.2409G>T (p.Glu803Asp)
3	g.122284952G>A	CA354161233	CASR	c.2767G>A (p.Ala923Thr) c.3028G>A (p.Ala1010Thr) c.2998G>A (p.Ala1000Thr) c.2515G>A (p.Ala839Thr) c.2410G>A (p.Ala804Thr)	ClinVar gnomAD v4
3	g.122284952G>C	CA354161232	CASR	c.2767G>C (p.Ala923Pro) c.3028G>C (p.Ala1010Pro) c.2998G>C (p.Ala1000Pro) c.2515G>C (p.Ala839Pro) c.2410G>C (p.Ala804Pro)
3	g.122284952G>T	CA354161231	CASR	c.2767G>T (p.Ala923Ser) c.3028G>T (p.Ala1010Ser) c.2998G>T (p.Ala1000Ser) c.2515G>T (p.Ala839Ser) c.2410G>T (p.Ala804Ser)
3	g.122284953C>A	CA354161234	CASR	c.2768C>A (p.Ala923Asp) c.3029C>A (p.Ala1010Asp) c.2999C>A (p.Ala1000Asp) c.2516C>A (p.Ala839Asp) c.2411C>A (p.Ala804Asp)
3	g.122284953C>G	CA354161236	CASR	c.2768C>G (p.Ala923Gly) c.3029C>G (p.Ala1010Gly) c.2999C>G (p.Ala1000Gly) c.2516C>G (p.Ala839Gly) c.2411C>G (p.Ala804Gly)
3	g.122284953C>T	CA354161235	CASR	c.2768C>T (p.Ala923Val) c.3029C>T (p.Ala1010Val) c.2999C>T (p.Ala1000Val) c.2516C>T (p.Ala839Val) c.2411C>T (p.Ala804Val)	ClinVar
3	g.122284954C>A	CA435425523	CASR	c.2769C>A (p.Ala923=) c.3030C>A (p.Ala1010=) c.3000C>A (p.Ala1000=) c.2517C>A (p.Ala839=) c.2412C>A (p.Ala804=)
3	g.122284954C>G	CA435425525	CASR	c.2769C>G (p.Ala923=) c.3030C>G (p.Ala1010=) c.3000C>G (p.Ala1000=) c.2517C>G (p.Ala839=) c.2412C>G (p.Ala804=)	ClinVar dbSNP gnomAD v4
3	g.122284954C>T	CA435425527	CASR	c.2769C>T (p.Ala923=) c.3030C>T (p.Ala1010=) c.3000C>T (p.Ala1000=) c.2517C>T (p.Ala839=) c.2412C>T (p.Ala804=)
3	g.122284955C>A	CA2569904	CASR	c.2770C>A (p.Gln924Lys) c.3031C>A (p.Gln1011Lys) c.3001C>A (p.Gln1001Lys) c.2518C>A (p.Gln840Lys) c.2413C>A (p.Gln805Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284955C=	CA1397873110	CASR	c.2770C= (p.Gln924=) c.3031C= (p.Gln1011=) c.3001C= (p.Gln1001=) c.2518C= (p.Gln840=) c.2413C= (p.Gln805=)
3	g.122284955C>G	CA354161238	CASR	c.2770C>G (p.Gln924Glu) c.3031C>G (p.Gln1011Glu) c.3001C>G (p.Gln1001Glu) c.2518C>G (p.Gln840Glu) c.2413C>G (p.Gln805Glu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284955C>T	CA354161237	CASR	c.2770C>T (p.Gln924Ter) c.3031C>T (p.Gln1011Ter) c.3001C>T (p.Gln1001Ter) c.2518C>T (p.Gln840Ter) c.2413C>T (p.Gln805Ter)	ClinVar
3	g.122284956A=	CA1397873112	CASR	c.2771A= (p.Gln924=) c.3032A= (p.Gln1011=) c.3002A= (p.Gln1001=) c.2519A= (p.Gln840=) c.2414A= (p.Gln805=)
3	g.122284956A>C	CA354161239	CASR	c.2771A>C (p.Gln924Pro) c.3032A>C (p.Gln1011Pro) c.3002A>C (p.Gln1001Pro) c.2519A>C (p.Gln840Pro) c.2414A>C (p.Gln805Pro)	ClinVar dbSNP gnomAD v4
3	g.122284956A>G	CA354161240	CASR	c.2771A>G (p.Gln924Arg) c.3032A>G (p.Gln1011Arg) c.3002A>G (p.Gln1001Arg) c.2519A>G (p.Gln840Arg) c.2414A>G (p.Gln805Arg)	gnomAD v4
3	g.122284956A>T	CA354161241	CASR	c.2771A>T (p.Gln924Leu) c.3032A>T (p.Gln1011Leu) c.3002A>T (p.Gln1001Leu) c.2519A>T (p.Gln840Leu) c.2414A>T (p.Gln805Leu)
3	g.122284957G>A	CA435425528	CASR	c.2772G>A (p.Gln924=) c.3033G>A (p.Gln1011=) c.3003G>A (p.Gln1001=) c.2520G>A (p.Gln840=) c.2415G>A (p.Gln805=)
3	g.122284957G>C	CA354161242	CASR	c.2772G>C (p.Gln924His) c.3033G>C (p.Gln1011His) c.3003G>C (p.Gln1001His) c.2520G>C (p.Gln840His) c.2415G>C (p.Gln805His)
3	g.122284957G>T	CA354161243	CASR	c.2772G>T (p.Gln924His) c.3033G>T (p.Gln1011His) c.3003G>T (p.Gln1001His) c.2520G>T (p.Gln840His) c.2415G>T (p.Gln805His)
3	g.122284958A=	CA1397873114	CASR	c.2773A= (p.Lys925=) c.3034A= (p.Lys1012=) c.3004A= (p.Lys1002=) c.2521A= (p.Lys841=) c.2416A= (p.Lys806=)
3	g.122284958A>C	CA354161244	CASR	c.2773A>C (p.Lys925Gln) c.3034A>C (p.Lys1012Gln) c.3004A>C (p.Lys1002Gln) c.2521A>C (p.Lys841Gln) c.2416A>C (p.Lys806Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284958A>G	CA354161245	CASR	c.2773A>G (p.Lys925Glu) c.3034A>G (p.Lys1012Glu) c.3004A>G (p.Lys1002Glu) c.2521A>G (p.Lys841Glu) c.2416A>G (p.Lys806Glu)	ClinVar dbSNP
3	g.122284958A>T	CA354161246	CASR	c.2773A>T (p.Lys925Ter) c.3034A>T (p.Lys1012Ter) c.3004A>T (p.Lys1002Ter) c.2521A>T (p.Lys841Ter) c.2416A>T (p.Lys806Ter)
3	g.122284959A>C	CA354161247	CASR	c.2774A>C (p.Lys925Thr) c.3035A>C (p.Lys1012Thr) c.3005A>C (p.Lys1002Thr) c.2522A>C (p.Lys841Thr) c.2417A>C (p.Lys806Thr)
3	g.122284959A>G	CA354161248	CASR	c.2774A>G (p.Lys925Arg) c.3035A>G (p.Lys1012Arg) c.3005A>G (p.Lys1002Arg) c.2522A>G (p.Lys841Arg) c.2417A>G (p.Lys806Arg)
3	g.122284959A>T	CA354161249	CASR	c.2774A>T (p.Lys925Ile) c.3035A>T (p.Lys1012Ile) c.3005A>T (p.Lys1002Ile) c.2522A>T (p.Lys841Ile) c.2417A>T (p.Lys806Ile)
3	g.122284960A>C	CA354161251	CASR	c.2775A>C (p.Lys925Asn) c.3036A>C (p.Lys1012Asn) c.3006A>C (p.Lys1002Asn) c.2523A>C (p.Lys841Asn) c.2418A>C (p.Lys806Asn)
3	g.122284960A>G	CA435425532	CASR	c.2775A>G (p.Lys925=) c.3036A>G (p.Lys1012=) c.3006A>G (p.Lys1002=) c.2523A>G (p.Lys841=) c.2418A>G (p.Lys806=)
3	g.122284960A>T	CA354161250	CASR	c.2775A>T (p.Lys925Asn) c.3036A>T (p.Lys1012Asn) c.3006A>T (p.Lys1002Asn) c.2523A>T (p.Lys841Asn) c.2418A>T (p.Lys806Asn)
3	g.122284961A>C	CA354161252	CASR	c.2776A>C (p.Ser926Arg) c.3037A>C (p.Ser1013Arg) c.3007A>C (p.Ser1003Arg) c.2524A>C (p.Ser842Arg) c.2419A>C (p.Ser807Arg)
3	g.122284961A>G	CA354161253	CASR	c.2776A>G (p.Ser926Gly) c.3037A>G (p.Ser1013Gly) c.3007A>G (p.Ser1003Gly) c.2524A>G (p.Ser842Gly) c.2419A>G (p.Ser807Gly)
3	g.122284961A>T	CA354161254	CASR	c.2776A>T (p.Ser926Cys) c.3037A>T (p.Ser1013Cys) c.3007A>T (p.Ser1003Cys) c.2524A>T (p.Ser842Cys) c.2419A>T (p.Ser807Cys)
3	g.122284962G>A	CA354161255	CASR	c.2777G>A (p.Ser926Asn) c.3038G>A (p.Ser1013Asn) c.3008G>A (p.Ser1003Asn) c.2525G>A (p.Ser842Asn) c.2420G>A (p.Ser807Asn)	ClinVar dbSNP gnomAD v4
3	g.122284962G>C	CA354161256	CASR	c.2777G>C (p.Ser926Thr) c.3038G>C (p.Ser1013Thr) c.3008G>C (p.Ser1003Thr) c.2525G>C (p.Ser842Thr) c.2420G>C (p.Ser807Thr)
3	g.122284962G=	CA1397873117	CASR	c.2777G= (p.Ser926=) c.3038G= (p.Ser1013=) c.3008G= (p.Ser1003=) c.2525G= (p.Ser842=) c.2420G= (p.Ser807=)
3	g.122284962G>T	CA354161257	CASR	c.2777G>T (p.Ser926Ile) c.3038G>T (p.Ser1013Ile) c.3008G>T (p.Ser1003Ile) c.2525G>T (p.Ser842Ile) c.2420G>T (p.Ser807Ile)
3	g.122284963C>A	CA354161258	CASR	c.2778C>A (p.Ser926Arg) c.3039C>A (p.Ser1013Arg) c.3009C>A (p.Ser1003Arg) c.2526C>A (p.Ser842Arg) c.2421C>A (p.Ser807Arg)
3	g.122284963C>G	CA354161259	CASR	c.2778C>G (p.Ser926Arg) c.3039C>G (p.Ser1013Arg) c.3009C>G (p.Ser1003Arg) c.2526C>G (p.Ser842Arg) c.2421C>G (p.Ser807Arg)
3	g.122284963C>T	CA435425535	CASR	c.2778C>T (p.Ser926=) c.3039C>T (p.Ser1013=) c.3009C>T (p.Ser1003=) c.2526C>T (p.Ser842=) c.2421C>T (p.Ser807=)
3	g.122284963_122284964delinsCA	CA1397873119	CASR	c.2778_2779delinsCA (p.Ser926=) c.3039_3040delinsCA (p.Ser1013=) c.3009_3010delinsCA (p.Ser1003=) c.2526_2527delinsCA (p.Ser842=) c.2421_2422delinsCA (p.Ser807=)
3	g.122284964del	CA645369338	CASR	c.2779del (p.Ser927AlafsTer4) c.3040del (p.Ser1014AlafsTer4) c.3010del (p.Ser1004AlafsTer4) c.2527del (p.Ser843AlafsTer4) c.2422del (p.Ser808AlafsTer4)	ClinVar dbSNP
3	g.122284964A=	CA1397873121	CASR	c.2779A= (p.Ser927=) c.3040A= (p.Ser1014=) c.3010A= (p.Ser1004=) c.2527A= (p.Ser843=) c.2422A= (p.Ser808=)
3	g.122284964A>C	CA2569905	CASR	c.2779A>C (p.Ser927Arg) c.3040A>C (p.Ser1014Arg) c.3010A>C (p.Ser1004Arg) c.2527A>C (p.Ser843Arg) c.2422A>C (p.Ser808Arg)	ClinVar dbSNP ExAC gnomAD v2
3	g.122284964A>G	CA354161260	CASR	c.2779A>G (p.Ser927Gly) c.3040A>G (p.Ser1014Gly) c.3010A>G (p.Ser1004Gly) c.2527A>G (p.Ser843Gly) c.2422A>G (p.Ser808Gly)
3	g.122284964A>T	CA354161261	CASR	c.2779A>T (p.Ser927Cys) c.3040A>T (p.Ser1014Cys) c.3010A>T (p.Ser1004Cys) c.2527A>T (p.Ser843Cys) c.2422A>T (p.Ser808Cys)	ClinVar dbSNP
3	g.122284965G>A	CA354161263	CASR	c.2780G>A (p.Ser927Asn) c.3041G>A (p.Ser1014Asn) c.3011G>A (p.Ser1004Asn) c.2528G>A (p.Ser843Asn) c.2423G>A (p.Ser808Asn)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284965G>C	CA354161264	CASR	c.2780G>C (p.Ser927Thr) c.3041G>C (p.Ser1014Thr) c.3011G>C (p.Ser1004Thr) c.2528G>C (p.Ser843Thr) c.2423G>C (p.Ser808Thr)
3	g.122284965G=	CA1397873126	CASR	c.2780G= (p.Ser927=) c.3041G= (p.Ser1014=) c.3011G= (p.Ser1004=) c.2528G= (p.Ser843=) c.2423G= (p.Ser808=)
3	g.122284965G>T	CA354161262	CASR	c.2780G>T (p.Ser927Ile) c.3041G>T (p.Ser1014Ile) c.3011G>T (p.Ser1004Ile) c.2528G>T (p.Ser843Ile) c.2423G>T (p.Ser808Ile)
3	g.122284966C>A	CA354161265	CASR	c.2781C>A (p.Ser927Arg) c.3042C>A (p.Ser1014Arg) c.3012C>A (p.Ser1004Arg) c.2529C>A (p.Ser843Arg) c.2424C>A (p.Ser808Arg)	dbSNP gnomAD v4
3	g.122284966C=	CA1397873127	CASR	c.2781C= (p.Ser927=) c.3042C= (p.Ser1014=) c.3012C= (p.Ser1004=) c.2529C= (p.Ser843=) c.2424C= (p.Ser808=)
3	g.122284966C>G	CA354161266	CASR	c.2781C>G (p.Ser927Arg) c.3042C>G (p.Ser1014Arg) c.3012C>G (p.Ser1004Arg) c.2529C>G (p.Ser843Arg) c.2424C>G (p.Ser808Arg)
3	g.122284966C>T	CA435425537	CASR	c.2781C>T (p.Ser927=) c.3042C>T (p.Ser1014=) c.3012C>T (p.Ser1004=) c.2529C>T (p.Ser843=) c.2424C>T (p.Ser808=)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284967G>A	CA2569906	CASR	c.2782G>A (p.Asp928Asn) c.3043G>A (p.Asp1015Asn) c.3013G>A (p.Asp1005Asn) c.2530G>A (p.Asp844Asn) c.2425G>A (p.Asp809Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284967G>C	CA354161267	CASR	c.2782G>C (p.Asp928His) c.3043G>C (p.Asp1015His) c.3013G>C (p.Asp1005His) c.2530G>C (p.Asp844His) c.2425G>C (p.Asp809His)	ClinVar dbSNP gnomAD v4
3	g.122284967G=	CA1397873129	CASR	c.2782G= (p.Asp928=) c.3043G= (p.Asp1015=) c.3013G= (p.Asp1005=) c.2530G= (p.Asp844=) c.2425G= (p.Asp809=)
3	g.122284967G>T	CA2569907	CASR	c.2782G>T (p.Asp928Tyr) c.3043G>T (p.Asp1015Tyr) c.3013G>T (p.Asp1005Tyr) c.2530G>T (p.Asp844Tyr) c.2425G>T (p.Asp809Tyr)	dbSNP ExAC gnomAD v3 gnomAD v4
3	g.122284968A>C	CA354161270	CASR	c.2783A>C (p.Asp928Ala) c.3044A>C (p.Asp1015Ala) c.3014A>C (p.Asp1005Ala) c.2531A>C (p.Asp844Ala) c.2426A>C (p.Asp809Ala)
3	g.122284968A>G	CA354161268	CASR	c.2783A>G (p.Asp928Gly) c.3044A>G (p.Asp1015Gly) c.3014A>G (p.Asp1005Gly) c.2531A>G (p.Asp844Gly) c.2426A>G (p.Asp809Gly)
3	g.122284968A>T	CA354161269	CASR	c.2783A>T (p.Asp928Val) c.3044A>T (p.Asp1015Val) c.3014A>T (p.Asp1005Val) c.2531A>T (p.Asp844Val) c.2426A>T (p.Asp809Val)
3	g.122284969T>A	CA354161271	CASR	c.2784T>A (p.Asp928Glu) c.3045T>A (p.Asp1015Glu) c.3015T>A (p.Asp1005Glu) c.2532T>A (p.Asp844Glu) c.2427T>A (p.Asp809Glu)
3	g.122284969T>C	CA435425541	CASR	c.2784T>C (p.Asp928=) c.3045T>C (p.Asp1015=) c.3015T>C (p.Asp1005=) c.2532T>C (p.Asp844=) c.2427T>C (p.Asp809=)	ClinVar
3	g.122284969T>G	CA354161272	CASR	c.2784T>G (p.Asp928Glu) c.3045T>G (p.Asp1015Glu) c.3015T>G (p.Asp1005Glu) c.2532T>G (p.Asp844Glu) c.2427T>G (p.Asp809Glu)
3	g.122284970A=	CA1397873132	CASR	c.2785A= (p.Thr929=) c.3046A= (p.Thr1016=) c.3016A= (p.Thr1006=) c.2533A= (p.Thr845=) c.2428A= (p.Thr810=)
3	g.122284970A>C	CA354161273	CASR	c.2785A>C (p.Thr929Pro) c.3046A>C (p.Thr1016Pro) c.3016A>C (p.Thr1006Pro) c.2533A>C (p.Thr845Pro) c.2428A>C (p.Thr810Pro)
3	g.122284970A>G	CA354161274	CASR	c.2785A>G (p.Thr929Ala) c.3046A>G (p.Thr1016Ala) c.3016A>G (p.Thr1006Ala) c.2533A>G (p.Thr845Ala) c.2428A>G (p.Thr810Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284970A>T	CA354161275	CASR	c.2785A>T (p.Thr929Ser) c.3046A>T (p.Thr1016Ser) c.3016A>T (p.Thr1006Ser) c.2533A>T (p.Thr845Ser) c.2428A>T (p.Thr810Ser)	dbSNP
3	g.122284971C>A	CA354161276	CASR	c.2786C>A (p.Thr929Lys) c.3047C>A (p.Thr1016Lys) c.3017C>A (p.Thr1006Lys) c.2534C>A (p.Thr845Lys) c.2429C>A (p.Thr810Lys)	dbSNP gnomAD v4
3	g.122284971C=	CA1397873134	CASR	c.2786C= (p.Thr929=) c.3047C= (p.Thr1016=) c.3017C= (p.Thr1006=) c.2534C= (p.Thr845=) c.2429C= (p.Thr810=)
3	g.122284971C>G	CA354161277	CASR	c.2786C>G (p.Thr929Arg) c.3047C>G (p.Thr1016Arg) c.3017C>G (p.Thr1006Arg) c.2534C>G (p.Thr845Arg) c.2429C>G (p.Thr810Arg)	ClinVar
3	g.122284971C>T	CA2569908	CASR	c.2786C>T (p.Thr929Met) c.3047C>T (p.Thr1016Met) c.3017C>T (p.Thr1006Met) c.2534C>T (p.Thr845Met) c.2429C>T (p.Thr810Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3	g.122284972G>A	CA2569909	CASR	c.2787G>A (p.Thr929=) c.3048G>A (p.Thr1016=) c.3018G>A (p.Thr1006=) c.2535G>A (p.Thr845=) c.2430G>A (p.Thr810=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284972G>C	CA435425542	CASR	c.2787G>C (p.Thr929=) c.3048G>C (p.Thr1016=) c.3018G>C (p.Thr1006=) c.2535G>C (p.Thr845=) c.2430G>C (p.Thr810=)	dbSNP
3	g.122284972G=	CA1397873138	CASR	c.2787G= (p.Thr929=) c.3048G= (p.Thr1016=) c.3018G= (p.Thr1006=) c.2535G= (p.Thr845=) c.2430G= (p.Thr810=)
3	g.122284972G>T	CA435425543	CASR	c.2787G>T (p.Thr929=) c.3048G>T (p.Thr1016=) c.3018G>T (p.Thr1006=) c.2535G>T (p.Thr845=) c.2430G>T (p.Thr810=)	ClinVar dbSNP
3	g.122284973C>A	CA354161278	CASR	c.2788C>A (p.Leu930Met) c.3049C>A (p.Leu1017Met) c.3019C>A (p.Leu1007Met) c.2536C>A (p.Leu846Met) c.2431C>A (p.Leu811Met)	dbSNP gnomAD v2 gnomAD v4
3	g.122284973C=	CA1397873140	CASR	c.2788C= (p.Leu930=) c.3049C= (p.Leu1017=) c.3019C= (p.Leu1007=) c.2536C= (p.Leu846=) c.2431C= (p.Leu811=)
3	g.122284973C>G	CA354161279	CASR	c.2788C>G (p.Leu930Val) c.3049C>G (p.Leu1017Val) c.3019C>G (p.Leu1007Val) c.2536C>G (p.Leu846Val) c.2431C>G (p.Leu811Val)
3	g.122284973C>T	CA435425544	CASR	c.2788C>T (p.Leu930=) c.3049C>T (p.Leu1017=) c.3019C>T (p.Leu1007=) c.2536C>T (p.Leu846=) c.2431C>T (p.Leu811=)
3	g.122284974T>A	CA82749437	CASR	c.2789T>A (p.Leu930Gln) c.3050T>A (p.Leu1017Gln) c.3020T>A (p.Leu1007Gln) c.2537T>A (p.Leu846Gln) c.2432T>A (p.Leu811Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284974T>C	CA354161280	CASR	c.2789T>C (p.Leu930Pro) c.3050T>C (p.Leu1017Pro) c.3020T>C (p.Leu1007Pro) c.2537T>C (p.Leu846Pro) c.2432T>C (p.Leu811Pro)
3	g.122284974T>G	CA354161281	CASR	c.2789T>G (p.Leu930Arg) c.3050T>G (p.Leu1017Arg) c.3020T>G (p.Leu1007Arg) c.2537T>G (p.Leu846Arg) c.2432T>G (p.Leu811Arg)
3	g.122284974T=	CA1397873142	CASR	c.2789T= (p.Leu930=) c.3050T= (p.Leu1017=) c.3020T= (p.Leu1007=) c.2537T= (p.Leu846=) c.2432T= (p.Leu811=)
3	g.122284975G>A	CA435425545	CASR	c.2790G>A (p.Leu930=) c.3051G>A (p.Leu1017=) c.3021G>A (p.Leu1007=) c.2538G>A (p.Leu846=) c.2433G>A (p.Leu811=)
3	g.122284975G>C	CA435425546	CASR	c.2790G>C (p.Leu930=) c.3051G>C (p.Leu1017=) c.3021G>C (p.Leu1007=) c.2538G>C (p.Leu846=) c.2433G>C (p.Leu811=)	ClinVar
3	g.122284975G>T	CA435425547	CASR	c.2790G>T (p.Leu930=) c.3051G>T (p.Leu1017=) c.3021G>T (p.Leu1007=) c.2538G>T (p.Leu846=) c.2433G>T (p.Leu811=)	ClinVar gnomAD v4
3	g.122284976A=	CA1397873144	CASR	c.2791A= (p.Thr931=) c.3052A= (p.Thr1018=) c.3022A= (p.Thr1008=) c.2539A= (p.Thr847=) c.2434A= (p.Thr812=)
3	g.122284976A>C	CA2569910	CASR	c.2791A>C (p.Thr931Pro) c.3052A>C (p.Thr1018Pro) c.3022A>C (p.Thr1008Pro) c.2539A>C (p.Thr847Pro) c.2434A>C (p.Thr812Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284976A>G	CA354161282	CASR	c.2791A>G (p.Thr931Ala) c.3052A>G (p.Thr1018Ala) c.3022A>G (p.Thr1008Ala) c.2539A>G (p.Thr847Ala) c.2434A>G (p.Thr812Ala)
3	g.122284976A>T	CA354161283	CASR	c.2791A>T (p.Thr931Ser) c.3052A>T (p.Thr1018Ser) c.3022A>T (p.Thr1008Ser) c.2539A>T (p.Thr847Ser) c.2434A>T (p.Thr812Ser)
3	g.122284977C>A	CA354161284	CASR	c.2792C>A (p.Thr931Asn) c.3053C>A (p.Thr1018Asn) c.3023C>A (p.Thr1008Asn) c.2540C>A (p.Thr847Asn) c.2435C>A (p.Thr812Asn)
3	g.122284977C>G	CA354161285	CASR	c.2792C>G (p.Thr931Ser) c.3053C>G (p.Thr1018Ser) c.3023C>G (p.Thr1008Ser) c.2540C>G (p.Thr847Ser) c.2435C>G (p.Thr812Ser)	dbSNP
3	g.122284977C>T	CA354161286	CASR	c.2792C>T (p.Thr931Ile) c.3053C>T (p.Thr1018Ile) c.3023C>T (p.Thr1008Ile) c.2540C>T (p.Thr847Ile) c.2435C>T (p.Thr812Ile)
3	g.122284978C>A	CA435425549	CASR	c.2793C>A (p.Thr931=) c.3054C>A (p.Thr1018=) c.3024C>A (p.Thr1008=) c.2541C>A (p.Thr847=) c.2436C>A (p.Thr812=)
3	g.122284978C=	CA1397873146	CASR	c.2793C= (p.Thr931=) c.3054C= (p.Thr1018=) c.3024C= (p.Thr1008=) c.2541C= (p.Thr847=) c.2436C= (p.Thr812=)
3	g.122284978C>G	CA435425548	CASR	c.2793C>G (p.Thr931=) c.3054C>G (p.Thr1018=) c.3024C>G (p.Thr1008=) c.2541C>G (p.Thr847=) c.2436C>G (p.Thr812=)
3	g.122284978C>T	CA2569911	CASR	c.2793C>T (p.Thr931=) c.3054C>T (p.Thr1018=) c.3024C>T (p.Thr1008=) c.2541C>T (p.Thr847=) c.2436C>T (p.Thr812=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284979C>A	CA435425550	CASR	c.2794C>A (p.Arg932=) c.3055C>A (p.Arg1019=) c.3025C>A (p.Arg1009=) c.2542C>A (p.Arg848=) c.2437C>A (p.Arg813=)
3	g.122284979C=	CA1397873149	CASR	c.2794C= (p.Arg932=) c.3055C= (p.Arg1019=) c.3025C= (p.Arg1009=) c.2542C= (p.Arg848=) c.2437C= (p.Arg813=)
3	g.122284979C>G	CA354161288	CASR	c.2794C>G (p.Arg932Gly) c.3055C>G (p.Arg1019Gly) c.3025C>G (p.Arg1009Gly) c.2542C>G (p.Arg848Gly) c.2437C>G (p.Arg813Gly)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284979C>T	CA354161287	CASR	c.2794C>T (p.Arg932Ter) c.3055C>T (p.Arg1019Ter) c.3025C>T (p.Arg1009Ter) c.2542C>T (p.Arg848Ter) c.2437C>T (p.Arg813Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284979_122284985delinsCGACACG	CA1397873148	CASR	c.2794_2800delinsCGACACG (p.Arg932=) c.3055_3061delinsCGACACG (p.Arg1019=) c.3025_3031delinsCGACACG (p.Arg1009=) c.2542_2548delinsCGACACG (p.Arg848=) c.2437_2443delinsCGACACG (p.Arg813=)
3	g.122284980G>A	CA2569912	CASR	c.2795G>A (p.Arg932Gln) c.3056G>A (p.Arg1019Gln) c.3026G>A (p.Arg1009Gln) c.2543G>A (p.Arg848Gln) c.2438G>A (p.Arg813Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284980G>C	CA354161289	CASR	c.2795G>C (p.Arg932Pro) c.3056G>C (p.Arg1019Pro) c.3026G>C (p.Arg1009Pro) c.2543G>C (p.Arg848Pro) c.2438G>C (p.Arg813Pro)	dbSNP gnomAD v3 gnomAD v4
3	g.122284980G=	CA1397873151	CASR	c.2795G= (p.Arg932=) c.3056G= (p.Arg1019=) c.3026G= (p.Arg1009=) c.2543G= (p.Arg848=) c.2438G= (p.Arg813=)
3	g.122284980G>T	CA2569913	CASR	c.2795G>T (p.Arg932Leu) c.3056G>T (p.Arg1019Leu) c.3026G>T (p.Arg1009Leu) c.2543G>T (p.Arg848Leu) c.2438G>T (p.Arg813Leu)	dbSNP ExAC gnomAD v4
3	g.122284980_122284985del	CA82749451	CASR	c.2795_2800del (p.Arg932_Glu934delinsGln) c.3056_3061del (p.Arg1019_Glu1021delinsGln) c.3026_3031del (p.Arg1009_Glu1011delinsGln) c.2543_2548del (p.Arg848_Glu850delinsGln) c.2438_2443del (p.Arg813_Glu815delinsGln)	dbSNP
3	g.122284981A=	CA1397873153	CASR	c.2796A= (p.Arg932=) c.3057A= (p.Arg1019=) c.3027A= (p.Arg1009=) c.2544A= (p.Arg848=) c.2439A= (p.Arg813=)
3	g.122284981A>C	CA82749458	CASR	c.2796A>C (p.Arg932=) c.3057A>C (p.Arg1019=) c.3027A>C (p.Arg1009=) c.2544A>C (p.Arg848=) c.2439A>C (p.Arg813=)	dbSNP
3	g.122284981A>G	CA435425551	CASR	c.2796A>G (p.Arg932=) c.3057A>G (p.Arg1019=) c.3027A>G (p.Arg1009=) c.2544A>G (p.Arg848=) c.2439A>G (p.Arg813=)
3	g.122284981A>T	CA435425552	CASR	c.2796A>T (p.Arg932=) c.3057A>T (p.Arg1019=) c.3027A>T (p.Arg1009=) c.2544A>T (p.Arg848=) c.2439A>T (p.Arg813=)
3	g.122284981_122284986del	CA354161290	CASR	c.2796_2801del (p.His933_Glu934del) c.3057_3062del (p.His1020_Glu1021del) c.3027_3032del (p.His1010_Glu1011del) c.2544_2549del (p.His849_Glu850del) c.2439_2444del (p.His814_Glu815del)
3	g.122284982C>A	CA354161291	CASR	c.2797C>A (p.His933Asn) c.3058C>A (p.His1020Asn) c.3028C>A (p.His1010Asn) c.2545C>A (p.His849Asn) c.2440C>A (p.His814Asn)
3	g.122284982C=	CA1397873155	CASR	c.2797C= (p.His933=) c.3058C= (p.His1020=) c.3028C= (p.His1010=) c.2545C= (p.His849=) c.2440C= (p.His814=)
3	g.122284982C>G	CA354161292	CASR	c.2797C>G (p.His933Asp) c.3058C>G (p.His1020Asp) c.3028C>G (p.His1010Asp) c.2545C>G (p.His849Asp) c.2440C>G (p.His814Asp)
3	g.122284982C>T	CA2569914	CASR	c.2797C>T (p.His933Tyr) c.3058C>T (p.His1020Tyr) c.3028C>T (p.His1010Tyr) c.2545C>T (p.His849Tyr) c.2440C>T (p.His814Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284983A=	CA1397873156	CASR	c.2798A= (p.His933=) c.3059A= (p.His1020=) c.3029A= (p.His1010=) c.2546A= (p.His849=) c.2441A= (p.His814=)
3	g.122284983A>C	CA2569915	CASR	c.2798A>C (p.His933Pro) c.3059A>C (p.His1020Pro) c.3029A>C (p.His1010Pro) c.2546A>C (p.His849Pro) c.2441A>C (p.His814Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284983A>G	CA354161293	CASR	c.2798A>G (p.His933Arg) c.3059A>G (p.His1020Arg) c.3029A>G (p.His1010Arg) c.2546A>G (p.His849Arg) c.2441A>G (p.His814Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284983A>T	CA354161294	CASR	c.2798A>T (p.His933Leu) c.3059A>T (p.His1020Leu) c.3029A>T (p.His1010Leu) c.2546A>T (p.His849Leu) c.2441A>T (p.His814Leu)
3	g.122284983dup	CA2667224936	CASR	c.2798dup (p.His933GlnfsTer?) c.3059dup (p.His1020GlnfsTer?) c.3029dup (p.His1010GlnfsTer?) c.2546dup (p.His849GlnfsTer?) c.2441dup (p.His814GlnfsTer?)	gnomAD v4
3	g.122284984C>A	CA354161295	CASR	c.2799C>A (p.His933Gln) c.3060C>A (p.His1020Gln) c.3030C>A (p.His1010Gln) c.2547C>A (p.His849Gln) c.2442C>A (p.His814Gln)
3	g.122284984C=	CA1397873160	CASR	c.2799C= (p.His933=) c.3060C= (p.His1020=) c.3030C= (p.His1010=) c.2547C= (p.His849=) c.2442C= (p.His814=)
3	g.122284984C>G	CA2569916	CASR	c.2799C>G (p.His933Gln) c.3060C>G (p.His1020Gln) c.3030C>G (p.His1010Gln) c.2547C>G (p.His849Gln) c.2442C>G (p.His814Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284984C>T	CA2569917	CASR	c.2799C>T (p.His933=) c.3060C>T (p.His1020=) c.3030C>T (p.His1010=) c.2547C>T (p.His849=) c.2442C>T (p.His814=)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284984_122284985delinsAC	CA2573136468	CASR	c.2799_2800delinsAC (p.His933_Glu934delinsGlnGln) c.3060_3061delinsAC (p.His1020_Glu1021delinsGlnGln) c.3030_3031delinsAC (p.His1010_Glu1011delinsGlnGln) c.2547_2548delinsAC (p.His849_Glu850delinsGlnGln) c.2442_2443delinsAC (p.His814_Glu815delinsGlnGln)	ClinVar dbSNP
3	g.122284984_122284985delinsCG	CA1397873159	CASR	c.2799_2800delinsCG (p.His933=) c.3060_3061delinsCG (p.His1020=) c.3030_3031delinsCG (p.His1010=) c.2547_2548delinsCG (p.His849=) c.2442_2443delinsCG (p.His814=)
3	g.122284984_122284985delinsGC	CA82749469	CASR	c.2799_2800delinsGC (p.His933_Glu934delinsGlnGln) c.3060_3061delinsGC (p.His1020_Glu1021delinsGlnGln) c.3030_3031delinsGC (p.His1010_Glu1011delinsGlnGln) c.2547_2548delinsGC (p.His849_Glu850delinsGlnGln) c.2442_2443delinsGC (p.His814_Glu815delinsGlnGln)	dbSNP
3	g.122284985G>A	CA354161296	CASR	c.2800G>A (p.Glu934Lys) c.3061G>A (p.Glu1021Lys) c.3031G>A (p.Glu1011Lys) c.2548G>A (p.Glu850Lys) c.2443G>A (p.Glu815Lys)	dbSNP
3	g.122284985G>C	CA179846	CASR	c.2800G>C (p.Glu934Gln) c.3061G>C (p.Glu1021Gln) c.3031G>C (p.Glu1011Gln) c.2548G>C (p.Glu850Gln) c.2443G>C (p.Glu815Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284985G=	CA10582124	CASR	c.2800G= (p.Glu934=) c.3061G= (p.Glu1021=) c.3031G= (p.Glu1011=) c.2548G= (p.Glu850=) c.2443G= (p.Glu815=)
3	g.122284985G>T	CA354161297	CASR	c.2800G>T (p.Glu934Ter) c.3061G>T (p.Glu1021Ter) c.3031G>T (p.Glu1011Ter) c.2548G>T (p.Glu850Ter) c.2443G>T (p.Glu815Ter)
3	g.122284985_122284986insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC	CA1052945246	CASR	c.2800_2801insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu934AlafsTer14) c.3061_3062insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu1021AlafsTer14) c.3031_3032insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu1011AlafsTer14) c.3031_3032insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Gln1011ProfsTer14) c.3061_3062insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Gln1021ProfsTer14) c.2548_2549insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu850AlafsTer14) c.2443_2444insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu815AlafsTer14)	gnomAD v3 gnomAD v4
3	g.122284986A>C	CA354161298	CASR	c.2801A>C (p.Glu934Ala) c.3062A>C (p.Glu1021Ala) c.3032A>C (p.Glu1011Ala) c.3032A>C (p.Gln1011Pro) c.3062A>C (p.Gln1021Pro) c.2549A>C (p.Glu850Ala) c.2444A>C (p.Glu815Ala)
3	g.122284986A>G	CA354161299	CASR	c.2801A>G (p.Glu934Gly) c.3062A>G (p.Glu1021Gly) c.3032A>G (p.Glu1011Gly) c.3032A>G (p.Gln1011Arg) c.3062A>G (p.Gln1021Arg) c.2549A>G (p.Glu850Gly) c.2444A>G (p.Glu815Gly)
3	g.122284986A>T	CA354161300	CASR	c.2801A>T (p.Glu934Val) c.3062A>T (p.Glu1021Val) c.3032A>T (p.Glu1011Val) c.3032A>T (p.Gln1011Leu) c.3062A>T (p.Gln1021Leu) c.2549A>T (p.Glu850Val) c.2444A>T (p.Glu815Val)
3	g.122284987G>A	CA435425553	CASR	c.2802G>A (p.Glu934=) c.3063G>A (p.Glu1021=) c.3033G>A (p.Glu1011=) c.3033G>A (p.Gln1011=) c.3063G>A (p.Gln1021=) c.2550G>A (p.Glu850=) c.2445G>A (p.Glu815=)	ClinVar
3	g.122284987G>C	CA354161301	CASR	c.2802G>C (p.Glu934Asp) c.3063G>C (p.Glu1021Asp) c.3033G>C (p.Glu1011Asp) c.3033G>C (p.Gln1011His) c.3063G>C (p.Gln1021His) c.2550G>C (p.Glu850Asp) c.2445G>C (p.Glu815Asp)
3	g.122284987G>T	CA354161302	CASR	c.2802G>T (p.Glu934Asp) c.3063G>T (p.Glu1021Asp) c.3033G>T (p.Glu1011Asp) c.3033G>T (p.Gln1011His) c.3063G>T (p.Gln1021His) c.2550G>T (p.Glu850Asp) c.2445G>T (p.Glu815Asp)
3	g.122284988C>A	CA2569918	CASR	c.2803C>A (p.Pro935Thr) c.3064C>A (p.Pro1022Thr) c.3034C>A (p.Pro1012Thr) c.2551C>A (p.Pro851Thr) c.2446C>A (p.Pro816Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284988C=	CA1397873163	CASR	c.2803C= (p.Pro935=) c.3064C= (p.Pro1022=) c.3034C= (p.Pro1012=) c.2551C= (p.Pro851=) c.2446C= (p.Pro816=)
3	g.122284988C>G	CA354161303	CASR	c.2803C>G (p.Pro935Ala) c.3064C>G (p.Pro1022Ala) c.3034C>G (p.Pro1012Ala) c.2551C>G (p.Pro851Ala) c.2446C>G (p.Pro816Ala)	ClinVar
3	g.122284988C>T	CA354161304	CASR	c.2803C>T (p.Pro935Ser) c.3064C>T (p.Pro1022Ser) c.3034C>T (p.Pro1012Ser) c.2551C>T (p.Pro851Ser) c.2446C>T (p.Pro816Ser)
3	g.122284989C>A	CA354161306	CASR	c.2804C>A (p.Pro935Gln) c.3065C>A (p.Pro1022Gln) c.3035C>A (p.Pro1012Gln) c.2552C>A (p.Pro851Gln) c.2447C>A (p.Pro816Gln)	ClinVar dbSNP
3	g.122284989C=	CA1397873165	CASR	c.2804C= (p.Pro935=) c.3065C= (p.Pro1022=) c.3035C= (p.Pro1012=) c.2552C= (p.Pro851=) c.2447C= (p.Pro816=)
3	g.122284989C>G	CA354161307	CASR	c.2804C>G (p.Pro935Arg) c.3065C>G (p.Pro1022Arg) c.3035C>G (p.Pro1012Arg) c.2552C>G (p.Pro851Arg) c.2447C>G (p.Pro816Arg)
3	g.122284989C>T	CA354161305	CASR	c.2804C>T (p.Pro935Leu) c.3065C>T (p.Pro1022Leu) c.3035C>T (p.Pro1012Leu) c.2552C>T (p.Pro851Leu) c.2447C>T (p.Pro816Leu)
3	g.122284990A=	CA1397873167	CASR	c.2805A= (p.Pro935=) c.3066A= (p.Pro1022=) c.3036A= (p.Pro1012=) c.2553A= (p.Pro851=) c.2448A= (p.Pro816=)
3	g.122284990A>C	CA435425554	CASR	c.2805A>C (p.Pro935=) c.3066A>C (p.Pro1022=) c.3036A>C (p.Pro1012=) c.2553A>C (p.Pro851=) c.2448A>C (p.Pro816=)
3	g.122284990A>G	CA435425555	CASR	c.2805A>G (p.Pro935=) c.3066A>G (p.Pro1022=) c.3036A>G (p.Pro1012=) c.2553A>G (p.Pro851=) c.2448A>G (p.Pro816=)	ClinVar dbSNP gnomAD v2
3	g.122284990A>T	CA435425556	CASR	c.2805A>T (p.Pro935=) c.3066A>T (p.Pro1022=) c.3036A>T (p.Pro1012=) c.2553A>T (p.Pro851=) c.2448A>T (p.Pro816=)
3	g.122284991T>A	CA354161308	CASR	c.2806T>A (p.Leu936Ile) c.3067T>A (p.Leu1023Ile) c.3037T>A (p.Leu1013Ile) c.2554T>A (p.Leu852Ile) c.2449T>A (p.Leu817Ile)
3	g.122284991T>C	CA435425557	CASR	c.2806T>C (p.Leu936=) c.3067T>C (p.Leu1023=) c.3037T>C (p.Leu1013=) c.2554T>C (p.Leu852=) c.2449T>C (p.Leu817=)
3	g.122284991T>G	CA354161309	CASR	c.2806T>G (p.Leu936Val) c.3067T>G (p.Leu1023Val) c.3037T>G (p.Leu1013Val) c.2554T>G (p.Leu852Val) c.2449T>G (p.Leu817Val)
3	g.122284992T>A	CA354161310	CASR	c.2807T>A (p.Leu936Ter) c.3068T>A (p.Leu1023Ter) c.3038T>A (p.Leu1013Ter) c.2555T>A (p.Leu852Ter) c.2450T>A (p.Leu817Ter)
3	g.122284992T>C	CA2569919	CASR	c.2807T>C (p.Leu936Ser) c.3068T>C (p.Leu1023Ser) c.3038T>C (p.Leu1013Ser) c.2555T>C (p.Leu852Ser) c.2450T>C (p.Leu817Ser)	dbSNP ExAC gnomAD v2
3	g.122284992T>G	CA354161311	CASR	c.2807T>G (p.Leu936Ter) c.3068T>G (p.Leu1023Ter) c.3038T>G (p.Leu1013Ter) c.2555T>G (p.Leu852Ter) c.2450T>G (p.Leu817Ter)
3	g.122284992T=	CA1397873168	CASR	c.2807T= (p.Leu936=) c.3068T= (p.Leu1023=) c.3038T= (p.Leu1013=) c.2555T= (p.Leu852=) c.2450T= (p.Leu817=)
3	g.122284993A>C	CA354161312	CASR	c.2808A>C (p.Leu936Phe) c.3069A>C (p.Leu1023Phe) c.3039A>C (p.Leu1013Phe) c.2556A>C (p.Leu852Phe) c.2451A>C (p.Leu817Phe)
3	g.122284993A>G	CA435425558	CASR	c.2808A>G (p.Leu936=) c.3069A>G (p.Leu1023=) c.3039A>G (p.Leu1013=) c.2556A>G (p.Leu852=) c.2451A>G (p.Leu817=)
3	g.122284993A>T	CA354161313	CASR	c.2808A>T (p.Leu936Phe) c.3069A>T (p.Leu1023Phe) c.3039A>T (p.Leu1013Phe) c.2556A>T (p.Leu852Phe) c.2451A>T (p.Leu817Phe)
3	g.122284994C>A	CA2569920	CASR	c.2809C>A (p.Leu937Ile) c.3070C>A (p.Leu1024Ile) c.3040C>A (p.Leu1014Ile) c.2557C>A (p.Leu853Ile) c.2452C>A (p.Leu818Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284994C=	CA1397873170	CASR	c.2809C= (p.Leu937=) c.3070C= (p.Leu1024=) c.3040C= (p.Leu1014=) c.2557C= (p.Leu853=) c.2452C= (p.Leu818=)
3	g.122284994C>G	CA354161314	CASR	c.2809C>G (p.Leu937Val) c.3070C>G (p.Leu1024Val) c.3040C>G (p.Leu1014Val) c.2557C>G (p.Leu853Val) c.2452C>G (p.Leu818Val)
3	g.122284994C>T	CA82749487	CASR	c.2809C>T (p.Leu937Phe) c.3070C>T (p.Leu1024Phe) c.3040C>T (p.Leu1014Phe) c.2557C>T (p.Leu853Phe) c.2452C>T (p.Leu818Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284995T>A	CA354161315	CASR	c.2810T>A (p.Leu937His) c.3071T>A (p.Leu1024His) c.3041T>A (p.Leu1014His) c.2558T>A (p.Leu853His) c.2453T>A (p.Leu818His)
3	g.122284995T>C	CA354161316	CASR	c.2810T>C (p.Leu937Pro) c.3071T>C (p.Leu1024Pro) c.3041T>C (p.Leu1014Pro) c.2558T>C (p.Leu853Pro) c.2453T>C (p.Leu818Pro)	ClinVar
3	g.122284995T>G	CA354161317	CASR	c.2810T>G (p.Leu937Arg) c.3071T>G (p.Leu1024Arg) c.3041T>G (p.Leu1014Arg) c.2558T>G (p.Leu853Arg) c.2453T>G (p.Leu818Arg)
3	g.122284995_122284996delinsTC	CA1397873171	CASR	c.2810_2811delinsTC (p.Leu937=) c.3071_3072delinsTC (p.Leu1024=) c.3041_3042delinsTC (p.Leu1014=) c.2558_2559delinsTC (p.Leu853=) c.2453_2454delinsTC (p.Leu818=)
3	g.122284996C>A	CA435425559	CASR	c.2811C>A (p.Leu937=) c.3072C>A (p.Leu1024=) c.3042C>A (p.Leu1014=) c.2559C>A (p.Leu853=) c.2454C>A (p.Leu818=)	ClinVar dbSNP
3	g.122284996C=	CA1397873176	CASR	c.2811C= (p.Leu937=) c.3072C= (p.Leu1024=) c.3042C= (p.Leu1014=) c.2559C= (p.Leu853=) c.2454C= (p.Leu818=)
3	g.122284996C>G	CA435425560	CASR	c.2811C>G (p.Leu937=) c.3072C>G (p.Leu1024=) c.3042C>G (p.Leu1014=) c.2559C>G (p.Leu853=) c.2454C>G (p.Leu818=)	ClinVar dbSNP
3	g.122284996C>T	CA435425561	CASR	c.2811C>T (p.Leu937=) c.3072C>T (p.Leu1024=) c.3042C>T (p.Leu1014=) c.2559C>T (p.Leu853=) c.2454C>T (p.Leu818=)	ClinVar dbSNP gnomAD v4
3	g.122284998del	CA916082597	CASR	c.2813del (p.Pro938ArgfsTer9) c.3074del (p.Pro1025ArgfsTer9) c.3044del (p.Pro1015ArgfsTer9) c.2561del (p.Pro854ArgfsTer9) c.2456del (p.Pro819ArgfsTer9)	ClinVar dbSNP gnomAD v4
3	g.122284997C>A	CA354161320	CASR	c.2812C>A (p.Pro938Thr) c.3073C>A (p.Pro1025Thr) c.3043C>A (p.Pro1015Thr) c.2560C>A (p.Pro854Thr) c.2455C>A (p.Pro819Thr)
3	g.122284997C>G	CA354161319	CASR	c.2812C>G (p.Pro938Ala) c.3073C>G (p.Pro1025Ala) c.3043C>G (p.Pro1015Ala) c.2560C>G (p.Pro854Ala) c.2455C>G (p.Pro819Ala)
3	g.122284997C>T	CA354161318	CASR	c.2812C>T (p.Pro938Ser) c.3073C>T (p.Pro1025Ser) c.3043C>T (p.Pro1015Ser) c.2560C>T (p.Pro854Ser) c.2455C>T (p.Pro819Ser)
3	g.122284998C>A	CA354161321	CASR	c.2813C>A (p.Pro938Gln) c.3074C>A (p.Pro1025Gln) c.3044C>A (p.Pro1015Gln) c.2561C>A (p.Pro854Gln) c.2456C>A (p.Pro819Gln)
3	g.122284998C=	CA1397873177	CASR	c.2813C= (p.Pro938=) c.3074C= (p.Pro1025=) c.3044C= (p.Pro1015=) c.2561C= (p.Pro854=) c.2456C= (p.Pro819=)
3	g.122284998C>G	CA354161322	CASR	c.2813C>G (p.Pro938Arg) c.3074C>G (p.Pro1025Arg) c.3044C>G (p.Pro1015Arg) c.2561C>G (p.Pro854Arg) c.2456C>G (p.Pro819Arg)
3	g.122284998C>T	CA2569921	CASR	c.2813C>T (p.Pro938Leu) c.3074C>T (p.Pro1025Leu) c.3044C>T (p.Pro1015Leu) c.2561C>T (p.Pro854Leu) c.2456C>T (p.Pro819Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3	g.122284999G>A	CA2569922	CASR	c.2814G>A (p.Pro938=) c.3075G>A (p.Pro1025=) c.3045G>A (p.Pro1015=) c.2562G>A (p.Pro854=) c.2457G>A (p.Pro819=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284999G>C	CA435425563	CASR	c.2814G>C (p.Pro938=) c.3075G>C (p.Pro1025=) c.3045G>C (p.Pro1015=) c.2562G>C (p.Pro854=) c.2457G>C (p.Pro819=)
3	g.122284999G=	CA1397873179	CASR	c.2814G= (p.Pro938=) c.3075G= (p.Pro1025=) c.3045G= (p.Pro1015=) c.2562G= (p.Pro854=) c.2457G= (p.Pro819=)
3	g.122284999G>T	CA435425562	CASR	c.2814G>T (p.Pro938=) c.3075G>T (p.Pro1025=) c.3045G>T (p.Pro1015=) c.2562G>T (p.Pro854=) c.2457G>T (p.Pro819=)	ClinVar
3	g.122285000C>A	CA354161323	CASR	c.2815C>A (p.Leu939Met) c.3076C>A (p.Leu1026Met) c.3046C>A (p.Leu1016Met) c.2563C>A (p.Leu855Met) c.2458C>A (p.Leu820Met)
3	g.122285000C>G	CA354161324	CASR	c.2815C>G (p.Leu939Val) c.3076C>G (p.Leu1026Val) c.3046C>G (p.Leu1016Val) c.2563C>G (p.Leu855Val) c.2458C>G (p.Leu820Val)
3	g.122285000C>T	CA435425564	CASR	c.2815C>T (p.Leu939=) c.3076C>T (p.Leu1026=) c.3046C>T (p.Leu1016=) c.2563C>T (p.Leu855=) c.2458C>T (p.Leu820=)
3	g.122285001T>A	CA354161325	CASR	c.2816T>A (p.Leu939Gln) c.3077T>A (p.Leu1026Gln) c.3047T>A (p.Leu1016Gln) c.2564T>A (p.Leu855Gln) c.2459T>A (p.Leu820Gln)	gnomAD v4
3	g.122285001T>C	CA2569923	CASR	c.2816T>C (p.Leu939Pro) c.3077T>C (p.Leu1026Pro) c.3047T>C (p.Leu1016Pro) c.2564T>C (p.Leu855Pro) c.2459T>C (p.Leu820Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122285001T>G	CA354161326	CASR	c.2816T>G (p.Leu939Arg) c.3077T>G (p.Leu1026Arg) c.3047T>G (p.Leu1016Arg) c.2564T>G (p.Leu855Arg) c.2459T>G (p.Leu820Arg)
3	g.122285001T=	CA1397873180	CASR	c.2816T= (p.Leu939=) c.3077T= (p.Leu1026=) c.3047T= (p.Leu1016=) c.2564T= (p.Leu855=) c.2459T= (p.Leu820=)
3	g.122285002G>A	CA435425565	CASR	c.2817G>A (p.Leu939=) c.3078G>A (p.Leu1026=) c.3048G>A (p.Leu1016=) c.2565G>A (p.Leu855=) c.2460G>A (p.Leu820=)	ClinVar dbSNP
3	g.122285002G>C	CA435425566	CASR	c.2817G>C (p.Leu939=) c.3078G>C (p.Leu1026=) c.3048G>C (p.Leu1016=) c.2565G>C (p.Leu855=) c.2460G>C (p.Leu820=)
3	g.122285002G=	CA1397873182	CASR	c.2817G= (p.Leu939=) c.3078G= (p.Leu1026=) c.3048G= (p.Leu1016=) c.2565G= (p.Leu855=) c.2460G= (p.Leu820=)
3	g.122285002G>T	CA435425567	CASR	c.2817G>T (p.Leu939=) c.3078G>T (p.Leu1026=) c.3048G>T (p.Leu1016=) c.2565G>T (p.Leu855=) c.2460G>T (p.Leu820=)	ClinVar
3	g.122285003C>A	CA354161327	CASR	c.2818C>A (p.Gln940Lys) c.3079C>A (p.Gln1027Lys) c.3049C>A (p.Gln1017Lys) c.2566C>A (p.Gln856Lys) c.2461C>A (p.Gln821Lys)
3	g.122285003C>G	CA354161328	CASR	c.2818C>G (p.Gln940Glu) c.3079C>G (p.Gln1027Glu) c.3049C>G (p.Gln1017Glu) c.2566C>G (p.Gln856Glu) c.2461C>G (p.Gln821Glu)
3	g.122285003C>T	CA354161329	CASR	c.2818C>T (p.Gln940Ter) c.3079C>T (p.Gln1027Ter) c.3049C>T (p.Gln1017Ter) c.2566C>T (p.Gln856Ter) c.2461C>T (p.Gln821Ter)
3	g.122285004A=	CA1397873184	CASR	c.2819A= (p.Gln940=) c.3080A= (p.Gln1027=) c.3050A= (p.Gln1017=) c.2567A= (p.Gln856=) c.2462A= (p.Gln821=)
3	g.122285004A>C	CA354161331	CASR	c.2819A>C (p.Gln940Pro) c.3080A>C (p.Gln1027Pro) c.3050A>C (p.Gln1017Pro) c.2567A>C (p.Gln856Pro) c.2462A>C (p.Gln821Pro)	ClinVar dbSNP gnomAD v4
3	g.122285004A>G	CA2569924	CASR	c.2819A>G (p.Gln940Arg) c.3080A>G (p.Gln1027Arg) c.3050A>G (p.Gln1017Arg) c.2567A>G (p.Gln856Arg) c.2462A>G (p.Gln821Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122285004A>T	CA354161330	CASR	c.2819A>T (p.Gln940Leu) c.3080A>T (p.Gln1027Leu) c.3050A>T (p.Gln1017Leu) c.2567A>T (p.Gln856Leu) c.2462A>T (p.Gln821Leu)	COSMIC
3	g.122285005G>A	CA435425568	CASR	c.2820G>A (p.Gln940=) c.3081G>A (p.Gln1027=) c.3051G>A (p.Gln1017=) c.2568G>A (p.Gln856=) c.2463G>A (p.Gln821=)
3	g.122285005G>C	CA354161332	CASR	c.2820G>C (p.Gln940His) c.3081G>C (p.Gln1027His) c.3051G>C (p.Gln1017His) c.2568G>C (p.Gln856His) c.2463G>C (p.Gln821His)
3	g.122285005G>T	CA354161333	CASR	c.2820G>T (p.Gln940His) c.3081G>T (p.Gln1027His) c.3051G>T (p.Gln1017His) c.2568G>T (p.Gln856His) c.2463G>T (p.Gln821His)
3	g.122285006T>A	CA354161334	CASR	c.2821T>A (p.Cys941Ser) c.3082T>A (p.Cys1028Ser) c.3052T>A (p.Cys1018Ser) c.2569T>A (p.Cys857Ser) c.2464T>A (p.Cys822Ser)
3	g.122285006T>C	CA354161336	CASR	c.2821T>C (p.Cys941Arg) c.3082T>C (p.Cys1028Arg) c.3052T>C (p.Cys1018Arg) c.2569T>C (p.Cys857Arg) c.2464T>C (p.Cys822Arg)	ClinVar gnomAD v4
3	g.122285006T>G	CA354161335	CASR	c.2821T>G (p.Cys941Gly) c.3082T>G (p.Cys1028Gly) c.3052T>G (p.Cys1018Gly) c.2569T>G (p.Cys857Gly) c.2464T>G (p.Cys822Gly)	ClinVar
3	g.122285007G>A	CA354161337	CASR	c.2822G>A (p.Cys941Tyr) c.3083G>A (p.Cys1028Tyr) c.3053G>A (p.Cys1018Tyr) c.2570G>A (p.Cys857Tyr) c.2465G>A (p.Cys822Tyr)
3	g.122285007G>C	CA354161339	CASR	c.2822G>C (p.Cys941Ser) c.3083G>C (p.Cys1028Ser) c.3053G>C (p.Cys1018Ser) c.2570G>C (p.Cys857Ser) c.2465G>C (p.Cys822Ser)	dbSNP gnomAD v2 gnomAD v4
3	g.122285007G=	CA1397873185	CASR	c.2822G= (p.Cys941=) c.3083G= (p.Cys1028=) c.3053G= (p.Cys1018=) c.2570G= (p.Cys857=) c.2465G= (p.Cys822=)
3	g.122285007G>T	CA354161338	CASR	c.2822G>T (p.Cys941Phe) c.3083G>T (p.Cys1028Phe) c.3053G>T (p.Cys1018Phe) c.2570G>T (p.Cys857Phe) c.2465G>T (p.Cys822Phe)
3	g.122285008C>A	CA354161340	CASR	c.2823C>A (p.Cys941Ter) c.3084C>A (p.Cys1028Ter) c.3054C>A (p.Cys1018Ter) c.2571C>A (p.Cys857Ter) c.2466C>A (p.Cys822Ter)
3	g.122285008C=	CA1397873187	CASR	c.2823C= (p.Cys941=) c.3084C= (p.Cys1028=) c.3054C= (p.Cys1018=) c.2571C= (p.Cys857=) c.2466C= (p.Cys822=)
3	g.122285008C>G	CA354161341	CASR	c.2823C>G (p.Cys941Trp) c.3084C>G (p.Cys1028Trp) c.3054C>G (p.Cys1018Trp) c.2571C>G (p.Cys857Trp) c.2466C>G (p.Cys822Trp)
3	g.122285008C>T	CA2569925	CASR	c.2823C>T (p.Cys941=) c.3084C>T (p.Cys1028=) c.3054C>T (p.Cys1018=) c.2571C>T (p.Cys857=) c.2466C>T (p.Cys822=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122285009G>A	CA16611138	CASR	c.2824G>A (p.Gly942Arg) c.3085G>A (p.Gly1029Arg) c.3055G>A (p.Gly1019Arg) c.2572G>A (p.Gly858Arg) c.2467G>A (p.Gly823Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122285009G>C	CA354161342	CASR	c.2824G>C (p.Gly942Arg) c.3085G>C (p.Gly1029Arg) c.3055G>C (p.Gly1019Arg) c.2572G>C (p.Gly858Arg) c.2467G>C (p.Gly823Arg)
3	g.122285009G=	CA1397873189	CASR	c.2824G= (p.Gly942=) c.3085G= (p.Gly1029=) c.3055G= (p.Gly1019=) c.2572G= (p.Gly858=) c.2467G= (p.Gly823=)
3	g.122285009G>T	CA354161343	CASR	c.2824G>T (p.Gly942Trp) c.3085G>T (p.Gly1029Trp) c.3055G>T (p.Gly1019Trp) c.2572G>T (p.Gly858Trp) c.2467G>T (p.Gly823Trp)
3	g.122285012del	CA2580068670	CASR	c.2827del (p.Glu943LysfsTer4) c.3088del (p.Glu1030LysfsTer4) c.3058del (p.Glu1020LysfsTer4) c.2575del (p.Glu859LysfsTer4) c.2470del (p.Glu824LysfsTer4)	ClinVar
3	g.122285010G>A	CA354161344	CASR	c.2825G>A (p.Gly942Glu) c.3086G>A (p.Gly1029Glu) c.3056G>A (p.Gly1019Glu) c.2573G>A (p.Gly858Glu) c.2468G>A (p.Gly823Glu)	ClinVar
3	g.122285010G>C	CA354161345	CASR	c.2825G>C (p.Gly942Ala) c.3086G>C (p.Gly1029Ala) c.3056G>C (p.Gly1019Ala) c.2573G>C (p.Gly858Ala) c.2468G>C (p.Gly823Ala)
3	g.122285010G>T	CA354161346	CASR	c.2825G>T (p.Gly942Val) c.3086G>T (p.Gly1029Val) c.3056G>T (p.Gly1019Val) c.2573G>T (p.Gly858Val) c.2468G>T (p.Gly823Val)
3	g.122285011G>A	CA435425569	CASR	c.2826G>A (p.Gly942=) c.3087G>A (p.Gly1029=) c.3057G>A (p.Gly1019=) c.2574G>A (p.Gly858=) c.2469G>A (p.Gly823=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122285011G>C	CA435425570	CASR	c.2826G>C (p.Gly942=) c.3087G>C (p.Gly1029=) c.3057G>C (p.Gly1019=) c.2574G>C (p.Gly858=) c.2469G>C (p.Gly823=)	ClinVar
3	g.122285011G=	CA1397873191	CASR	c.2826G= (p.Gly942=) c.3087G= (p.Gly1029=) c.3057G= (p.Gly1019=) c.2574G= (p.Gly858=) c.2469G= (p.Gly823=)
3	g.122285011G>T	CA435425571	CASR	c.2826G>T (p.Gly942=) c.3087G>T (p.Gly1029=) c.3057G>T (p.Gly1019=) c.2574G>T (p.Gly858=) c.2469G>T (p.Gly823=)
3	g.122285012G>A	CA354161347	CASR	c.2827G>A (p.Glu943Lys) c.3088G>A (p.Glu1030Lys) c.3058G>A (p.Glu1020Lys) c.2575G>A (p.Glu859Lys) c.2470G>A (p.Glu824Lys)	dbSNP gnomAD v3 gnomAD v4 COSMIC
3	g.122285012G>C	CA16611098	CASR	c.2827G>C (p.Glu943Gln) c.3088G>C (p.Glu1030Gln) c.3058G>C (p.Glu1020Gln) c.2575G>C (p.Glu859Gln) c.2470G>C (p.Glu824Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122285012G=	CA1397873195	CASR	c.2827G= (p.Glu943=) c.3088G= (p.Glu1030=) c.3058G= (p.Glu1020=) c.2575G= (p.Glu859=) c.2470G= (p.Glu824=)
3	g.122285012G>T	CA354161348	CASR	c.2827G>T (p.Glu943Ter) c.3088G>T (p.Glu1030Ter) c.3058G>T (p.Glu1020Ter) c.2575G>T (p.Glu859Ter) c.2470G>T (p.Glu824Ter)	dbSNP
3	g.122285013A>C	CA354161349	CASR	c.2828A>C (p.Glu943Ala) c.3089A>C (p.Glu1030Ala) c.3059A>C (p.Glu1020Ala) c.2576A>C (p.Glu859Ala) c.2471A>C (p.Glu824Ala)
3	g.122285013A>G	CA354161351	CASR	c.2828A>G (p.Glu943Gly) c.3089A>G (p.Glu1030Gly) c.3059A>G (p.Glu1020Gly) c.2576A>G (p.Glu859Gly) c.2471A>G (p.Glu824Gly)
3	g.122285013A>T	CA354161350	CASR	c.2828A>T (p.Glu943Val) c.3089A>T (p.Glu1030Val) c.3059A>T (p.Glu1020Val) c.2576A>T (p.Glu859Val) c.2471A>T (p.Glu824Val)
3	g.122285014A>C	CA354161352	CASR	c.2829A>C (p.Glu943Asp) c.3090A>C (p.Glu1030Asp) c.3060A>C (p.Glu1020Asp) c.2577A>C (p.Glu859Asp) c.2472A>C (p.Glu824Asp)
3	g.122285014A>G	CA435425572	CASR	c.2829A>G (p.Glu943=) c.3090A>G (p.Glu1030=) c.3060A>G (p.Glu1020=) c.2577A>G (p.Glu859=) c.2472A>G (p.Glu824=)
3	g.122285014A>T	CA354161353	CASR	c.2829A>T (p.Glu943Asp) c.3090A>T (p.Glu1030Asp) c.3060A>T (p.Glu1020Asp) c.2577A>T (p.Glu859Asp) c.2472A>T (p.Glu824Asp)
3	g.122285015A>C	CA354161354	CASR	c.2830A>C (p.Thr944Pro) c.3091A>C (p.Thr1031Pro) c.3061A>C (p.Thr1021Pro) c.2578A>C (p.Thr860Pro) c.2473A>C (p.Thr825Pro)
3	g.122285015A>G	CA354161355	CASR	c.2830A>G (p.Thr944Ala) c.3091A>G (p.Thr1031Ala) c.3061A>G (p.Thr1021Ala) c.2578A>G (p.Thr860Ala) c.2473A>G (p.Thr825Ala)	gnomAD v4
3	g.122285015A>T	CA354161356	CASR	c.2830A>T (p.Thr944Ser) c.3091A>T (p.Thr1031Ser) c.3061A>T (p.Thr1021Ser) c.2578A>T (p.Thr860Ser) c.2473A>T (p.Thr825Ser)
3	g.122285016C>A	CA2569926	CASR	c.2831C>A (p.Thr944Lys) c.3092C>A (p.Thr1031Lys) c.3062C>A (p.Thr1021Lys) c.2579C>A (p.Thr860Lys) c.2474C>A (p.Thr825Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122285016C=	CA1397873198	CASR	c.2831C= (p.Thr944=) c.3092C= (p.Thr1031=) c.3062C= (p.Thr1021=) c.2579C= (p.Thr860=) c.2474C= (p.Thr825=)
3	g.122285016C>G	CA82749519	CASR	c.2831C>G (p.Thr944Arg) c.3092C>G (p.Thr1031Arg) c.3062C>G (p.Thr1021Arg) c.2579C>G (p.Thr860Arg) c.2474C>G (p.Thr825Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122285016C>T	CA354161357	CASR	c.2831C>T (p.Thr944Met) c.3092C>T (p.Thr1031Met) c.3062C>T (p.Thr1021Met) c.2579C>T (p.Thr860Met) c.2474C>T (p.Thr825Met)	ClinVar dbSNP gnomAD v4
3	g.122285017G>A	CA213595	CASR	c.2832G>A (p.Thr944=) c.3093G>A (p.Thr1031=) c.3063G>A (p.Thr1021=) c.2580G>A (p.Thr860=) c.2475G>A (p.Thr825=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122285017G>C	CA82749525	CASR	c.2832G>C (p.Thr944=) c.3093G>C (p.Thr1031=) c.3063G>C (p.Thr1021=) c.2580G>C (p.Thr860=) c.2475G>C (p.Thr825=)	ClinVar dbSNP gnomAD v4
3	g.122285017G=	CA1397873201	CASR	c.2832G= (p.Thr944=) c.3093G= (p.Thr1031=) c.3063G= (p.Thr1021=) c.2580G= (p.Thr860=) c.2475G= (p.Thr825=)
3	g.122285017G>T	CA435425573	CASR	c.2832G>T (p.Thr944=) c.3093G>T (p.Thr1031=) c.3063G>T (p.Thr1021=) c.2580G>T (p.Thr860=) c.2475G>T (p.Thr825=)
3	g.122285018G>A	CA354161360	CASR	c.2833G>A (p.Asp945Asn) c.3094G>A (p.Asp1032Asn) c.3064G>A (p.Asp1022Asn) c.2581G>A (p.Asp861Asn) c.2476G>A (p.Asp826Asn)	ClinVar dbSNP gnomAD v4 COSMIC
3	g.122285018G>C	CA354161359	CASR	c.2833G>C (p.Asp945His) c.3094G>C (p.Asp1032His) c.3064G>C (p.Asp1022His) c.2581G>C (p.Asp861His) c.2476G>C (p.Asp826His)
3	g.122285018G>T	CA354161358	CASR	c.2833G>T (p.Asp945Tyr) c.3094G>T (p.Asp1032Tyr) c.3064G>T (p.Asp1022Tyr) c.2581G>T (p.Asp861Tyr) c.2476G>T (p.Asp826Tyr)
3	g.122285019A=	CA1397873203	CASR	c.2834A= (p.Asp945=) c.3095A= (p.Asp1032=) c.3065A= (p.Asp1022=) c.2582A= (p.Asp861=) c.2477A= (p.Asp826=)
3	g.122285019A>C	CA354161361	CASR	c.2834A>C (p.Asp945Ala) c.3095A>C (p.Asp1032Ala) c.3065A>C (p.Asp1022Ala) c.2582A>C (p.Asp861Ala) c.2477A>C (p.Asp826Ala)
3	g.122285019A>G	CA354161362	CASR	c.2834A>G (p.Asp945Gly) c.3095A>G (p.Asp1032Gly) c.3065A>G (p.Asp1022Gly) c.2582A>G (p.Asp861Gly) c.2477A>G (p.Asp826Gly)	dbSNP
3	g.122285019A>T	CA354161363	CASR	c.2834A>T (p.Asp945Val) c.3095A>T (p.Asp1032Val) c.3065A>T (p.Asp1022Val) c.2582A>T (p.Asp861Val) c.2477A>T (p.Asp826Val)
3	g.122285020C>A	CA354161364	CASR	c.2835C>A (p.Asp945Glu) c.3096C>A (p.Asp1032Glu) c.3066C>A (p.Asp1022Glu) c.2583C>A (p.Asp861Glu) c.2478C>A (p.Asp826Glu)
3	g.122285020C>G	CA354161365	CASR	c.2835C>G (p.Asp945Glu) c.3096C>G (p.Asp1032Glu) c.3066C>G (p.Asp1022Glu) c.2583C>G (p.Asp861Glu) c.2478C>G (p.Asp826Glu)
3	g.122285020C>T	CA435425574	CASR	c.2835C>T (p.Asp945=) c.3096C>T (p.Asp1032=) c.3066C>T (p.Asp1022=) c.2583C>T (p.Asp861=) c.2478C>T (p.Asp826=)
3	g.122285021T>A	CA354161366	CASR	c.2836T>A (p.Leu946Ile) c.3097T>A (p.Leu1033Ile) c.3067T>A (p.Leu1023Ile) c.2584T>A (p.Leu862Ile) c.2479T>A (p.Leu827Ile)
3	g.122285021T>C	CA435425575	CASR	c.2836T>C (p.Leu946=) c.3097T>C (p.Leu1033=) c.3067T>C (p.Leu1023=) c.2584T>C (p.Leu862=) c.2479T>C (p.Leu827=)
3	g.122285021T>G	CA354161367	CASR	c.2836T>G (p.Leu946Val) c.3097T>G (p.Leu1033Val) c.3067T>G (p.Leu1023Val) c.2584T>G (p.Leu862Val) c.2479T>G (p.Leu827Val)
3	g.122285022T>A	CA354161368	CASR	c.2837T>A (p.Leu946Ter) c.3098T>A (p.Leu1033Ter) c.3068T>A (p.Leu1023Ter) c.2585T>A (p.Leu862Ter) c.2480T>A (p.Leu827Ter)
3	g.122285022T>C	CA354161369	CASR	c.2837T>C (p.Leu946Ser) c.3098T>C (p.Leu1033Ser) c.3068T>C (p.Leu1023Ser) c.2585T>C (p.Leu862Ser) c.2480T>C (p.Leu827Ser)
3	g.122285022T>G	CA354161370	CASR	c.2837T>G (p.Leu946Ter) c.3098T>G (p.Leu1033Ter) c.3068T>G (p.Leu1023Ter) c.2585T>G (p.Leu862Ter) c.2480T>G (p.Leu827Ter)
3	g.122285023A=	CA1397873205	CASR	c.2838A= (p.Leu946=) c.3099A= (p.Leu1033=) c.3069A= (p.Leu1023=) c.2586A= (p.Leu862=) c.2481A= (p.Leu827=)
3	g.122285023A>C	CA354161371	CASR	c.2838A>C (p.Leu946Phe) c.3099A>C (p.Leu1033Phe) c.3069A>C (p.Leu1023Phe) c.2586A>C (p.Leu862Phe) c.2481A>C (p.Leu827Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122285023A>G	CA435425576	CASR	c.2838A>G (p.Leu946=) c.3099A>G (p.Leu1033=) c.3069A>G (p.Leu1023=) c.2586A>G (p.Leu862=) c.2481A>G (p.Leu827=)	ClinVar dbSNP
3	g.122285023A>T	CA354161372	CASR	c.2838A>T (p.Leu946Phe) c.3099A>T (p.Leu1033Phe) c.3069A>T (p.Leu1023Phe) c.2586A>T (p.Leu862Phe) c.2481A>T (p.Leu827Phe)
3	g.122285024G>A	CA354161375	CASR	c.2839G>A (p.Asp947Asn) c.3100G>A (p.Asp1034Asn) c.3070G>A (p.Asp1024Asn) c.2587G>A (p.Asp863Asn) c.2482G>A (p.Asp828Asn)
3	g.122285024G>C	CA354161373	CASR	c.2839G>C (p.Asp947His) c.3100G>C (p.Asp1034His) c.3070G>C (p.Asp1024His) c.2587G>C (p.Asp863His) c.2482G>C (p.Asp828His)
3	g.122285024G>T	CA354161374	CASR	c.2839G>T (p.Asp947Tyr) c.3100G>T (p.Asp1034Tyr) c.3070G>T (p.Asp1024Tyr) c.2587G>T (p.Asp863Tyr) c.2482G>T (p.Asp828Tyr)	ClinVar dbSNP
3	g.122285025A>C	CA354161376	CASR	c.2840A>C (p.Asp947Ala) c.3101A>C (p.Asp1034Ala) c.3071A>C (p.Asp1024Ala) c.2588A>C (p.Asp863Ala) c.2483A>C (p.Asp828Ala)
3	g.122285025A>G	CA354161377	CASR	c.2840A>G (p.Asp947Gly) c.3101A>G (p.Asp1034Gly) c.3071A>G (p.Asp1024Gly) c.2588A>G (p.Asp863Gly) c.2483A>G (p.Asp828Gly)
3	g.122285025A>T	CA354161378	CASR	c.2840A>T (p.Asp947Val) c.3101A>T (p.Asp1034Val) c.3071A>T (p.Asp1024Val) c.2588A>T (p.Asp863Val) c.2483A>T (p.Asp828Val)
3	g.122285026T>A	CA354161379	CASR	c.2841T>A (p.Asp947Glu) c.3102T>A (p.Asp1034Glu) c.3072T>A (p.Asp1024Glu) c.2589T>A (p.Asp863Glu) c.2484T>A (p.Asp828Glu)
3	g.122285026T>C	CA435425577	CASR	c.2841T>C (p.Asp947=) c.3102T>C (p.Asp1034=) c.3072T>C (p.Asp1024=) c.2589T>C (p.Asp863=) c.2484T>C (p.Asp828=)	ClinVar gnomAD v4
3	g.122285026T>G	CA354161380	CASR	c.2841T>G (p.Asp947Glu) c.3102T>G (p.Asp1034Glu) c.3072T>G (p.Asp1024Glu) c.2589T>G (p.Asp863Glu) c.2484T>G (p.Asp828Glu)
3	g.122285027C>A	CA354161381	CASR	c.2842C>A (p.Leu948Met) c.3103C>A (p.Leu1035Met) c.3073C>A (p.Leu1025Met) c.2590C>A (p.Leu864Met) c.2485C>A (p.Leu829Met)	COSMIC
3	g.122285027C=	CA1397873209	CASR	c.2842C= (p.Leu948=) c.3103C= (p.Leu1035=) c.3073C= (p.Leu1025=) c.2590C= (p.Leu864=) c.2485C= (p.Leu829=)
3	g.122285027C>G	CA354161382	CASR	c.2842C>G (p.Leu948Val) c.3103C>G (p.Leu1035Val) c.3073C>G (p.Leu1025Val) c.2590C>G (p.Leu864Val) c.2485C>G (p.Leu829Val)	ClinVar
3	g.122285027C>T	CA2569927	CASR	c.2842C>T (p.Leu948=) c.3103C>T (p.Leu1035=) c.3073C>T (p.Leu1025=) c.2590C>T (p.Leu864=) c.2485C>T (p.Leu829=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122285028T>A	CA354161383	CASR	c.2843T>A (p.Leu948Gln) c.3104T>A (p.Leu1035Gln) c.3074T>A (p.Leu1025Gln) c.2591T>A (p.Leu864Gln) c.2486T>A (p.Leu829Gln)
3	g.122285028T>C	CA354161384	CASR	c.2843T>C (p.Leu948Pro) c.3104T>C (p.Leu1035Pro) c.3074T>C (p.Leu1025Pro) c.2591T>C (p.Leu864Pro) c.2486T>C (p.Leu829Pro)
3	g.122285028T>G	CA354161385	CASR	c.2843T>G (p.Leu948Arg) c.3104T>G (p.Leu1035Arg) c.3074T>G (p.Leu1025Arg) c.2591T>G (p.Leu864Arg) c.2486T>G (p.Leu829Arg)
3	g.122285029G>A	CA435425578	CASR	c.2844G>A (p.Leu948=) c.3105G>A (p.Leu1035=) c.3075G>A (p.Leu1025=) c.2592G>A (p.Leu864=) c.2487G>A (p.Leu829=)
3	g.122285029G>C	CA435425579	CASR	c.2844G>C (p.Leu948=) c.3105G>C (p.Leu1035=) c.3075G>C (p.Leu1025=) c.2592G>C (p.Leu864=) c.2487G>C (p.Leu829=)
3	g.122285029G>T	CA435425580	CASR	c.2844G>T (p.Leu948=) c.3105G>T (p.Leu1035=) c.3075G>T (p.Leu1025=) c.2592G>T (p.Leu864=) c.2487G>T (p.Leu829=)
3	g.122285030A>C	CA354161387	CASR	c.2845A>C (p.Thr949Pro) c.3106A>C (p.Thr1036Pro) c.3076A>C (p.Thr1026Pro) c.2593A>C (p.Thr865Pro) c.2488A>C (p.Thr830Pro)
3	g.122285030A>G	CA354161388	CASR	c.2845A>G (p.Thr949Ala) c.3106A>G (p.Thr1036Ala) c.3076A>G (p.Thr1026Ala) c.2593A>G (p.Thr865Ala) c.2488A>G (p.Thr830Ala)
3	g.122285030A>T	CA354161386	CASR	c.2845A>T (p.Thr949Ser) c.3106A>T (p.Thr1036Ser) c.3076A>T (p.Thr1026Ser) c.2593A>T (p.Thr865Ser) c.2488A>T (p.Thr830Ser)
3	g.122285031C>A	CA354161391	CASR	c.2846C>A (p.Thr949Asn) c.3107C>A (p.Thr1036Asn) c.3077C>A (p.Thr1026Asn) c.2594C>A (p.Thr865Asn) c.2489C>A (p.Thr830Asn)
3	g.122285031C>G	CA354161389	CASR	c.2846C>G (p.Thr949Ser) c.3107C>G (p.Thr1036Ser) c.3077C>G (p.Thr1026Ser) c.2594C>G (p.Thr865Ser) c.2489C>G (p.Thr830Ser)
3	g.122285031C>T	CA354161390	CASR	c.2846C>T (p.Thr949Ile) c.3107C>T (p.Thr1036Ile) c.3077C>T (p.Thr1026Ile) c.2594C>T (p.Thr865Ile) c.2489C>T (p.Thr830Ile)
3	g.122285032C>A	CA2569928	CASR	c.2847C>A (p.Thr949=) c.3108C>A (p.Thr1036=) c.3078C>A (p.Thr1026=) c.2595C>A (p.Thr865=) c.2490C>A (p.Thr830=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122285032C=	CA1397873212	CASR	c.2847C= (p.Thr949=) c.3108C= (p.Thr1036=) c.3078C= (p.Thr1026=) c.2595C= (p.Thr865=) c.2490C= (p.Thr830=)
3	g.122285032C>G	CA435425581	CASR	c.2847C>G (p.Thr949=) c.3108C>G (p.Thr1036=) c.3078C>G (p.Thr1026=) c.2595C>G (p.Thr865=) c.2490C>G (p.Thr830=)	gnomAD v2 gnomAD v3 gnomAD v4
3	g.122285032C>T	CA435425582	CASR	c.2847C>T (p.Thr949=) c.3108C>T (p.Thr1036=) c.3078C>T (p.Thr1026=) c.2595C>T (p.Thr865=) c.2490C>T (p.Thr830=)	gnomAD v4 COSMIC
3	g.122285033G>A	CA2569929	CASR	c.2848G>A (p.Val950Ile) c.3109G>A (p.Val1037Ile) c.3079G>A (p.Val1027Ile) c.2596G>A (p.Val866Ile) c.2491G>A (p.Val831Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122285033G>C	CA354161392	CASR	c.2848G>C (p.Val950Leu) c.3109G>C (p.Val1037Leu) c.3079G>C (p.Val1027Leu) c.2596G>C (p.Val866Leu) c.2491G>C (p.Val831Leu)
3	g.122285033G=	CA1397873214	CASR	c.2848G= (p.Val950=) c.3109G= (p.Val1037=) c.3079G= (p.Val1027=) c.2596G= (p.Val866=) c.2491G= (p.Val831=)
3	g.122285033G>T	CA354161393	CASR	c.2848G>T (p.Val950Phe) c.3109G>T (p.Val1037Phe) c.3079G>T (p.Val1027Phe) c.2596G>T (p.Val866Phe) c.2491G>T (p.Val831Phe)
3	g.122285034T>A	CA354161394	CASR	c.2849T>A (p.Val950Asp) c.3110T>A (p.Val1037Asp) c.3080T>A (p.Val1027Asp) c.2597T>A (p.Val866Asp) c.2492T>A (p.Val831Asp)
3	g.122285034T>C	CA2569930	CASR	c.2849T>C (p.Val950Ala) c.3110T>C (p.Val1037Ala) c.3080T>C (p.Val1027Ala) c.2597T>C (p.Val866Ala) c.2492T>C (p.Val831Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122285034T>G	CA354161395	CASR	c.2849T>G (p.Val950Gly) c.3110T>G (p.Val1037Gly) c.3080T>G (p.Val1027Gly) c.2597T>G (p.Val866Gly) c.2492T>G (p.Val831Gly)
3	g.122285034T=	CA1397873216	CASR	c.2849T= (p.Val950=) c.3110T= (p.Val1037=) c.3080T= (p.Val1027=) c.2597T= (p.Val866=) c.2492T= (p.Val831=)

Number of alleles fetched