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.122284672G>A	CA435425518	CASR	c.2487G>A (p.Thr829=) c.2748G>A (p.Thr916=) c.2718G>A (p.Thr906=) c.2235G>A (p.Thr745=) c.2130G>A (p.Thr710=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284672G>C	CA435425520	CASR	c.2487G>C (p.Thr829=) c.2748G>C (p.Thr916=) c.2718G>C (p.Thr906=) c.2235G>C (p.Thr745=) c.2130G>C (p.Thr710=)
3	g.122284672G=	CA1397872845	CASR	c.2487G= (p.Thr829=) c.2748G= (p.Thr916=) c.2718G= (p.Thr906=) c.2235G= (p.Thr745=) c.2130G= (p.Thr710=)
3	g.122284672G>T	CA435425519	CASR	c.2487G>T (p.Thr829=) c.2748G>T (p.Thr916=) c.2718G>T (p.Thr906=) c.2235G>T (p.Thr745=) c.2130G>T (p.Thr710=)	ClinVar dbSNP
3	g.122284673G>A	CA354160619	CASR	c.2488G>A (p.Gly830Arg) c.2749G>A (p.Gly917Arg) c.2719G>A (p.Gly907Arg) c.2236G>A (p.Gly746Arg) c.2131G>A (p.Gly711Arg)
3	g.122284673G>C	CA354160621	CASR	c.2488G>C (p.Gly830Arg) c.2749G>C (p.Gly917Arg) c.2719G>C (p.Gly907Arg) c.2236G>C (p.Gly746Arg) c.2131G>C (p.Gly711Arg)
3	g.122284673G>T	CA354160620	CASR	c.2488G>T (p.Gly830Ter) c.2749G>T (p.Gly917Ter) c.2719G>T (p.Gly907Ter) c.2236G>T (p.Gly746Ter) c.2131G>T (p.Gly711Ter)
3	g.122284674G>A	CA354160622	CASR	c.2489G>A (p.Gly830Glu) c.2750G>A (p.Gly917Glu) c.2720G>A (p.Gly907Glu) c.2237G>A (p.Gly746Glu) c.2132G>A (p.Gly711Glu)	gnomAD v4 COSMIC
3	g.122284674G>C	CA2569852	CASR	c.2489G>C (p.Gly830Ala) c.2750G>C (p.Gly917Ala) c.2720G>C (p.Gly907Ala) c.2237G>C (p.Gly746Ala) c.2132G>C (p.Gly711Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284674G=	CA1397872846	CASR	c.2489G= (p.Gly830=) c.2750G= (p.Gly917=) c.2720G= (p.Gly907=) c.2237G= (p.Gly746=) c.2132G= (p.Gly711=)
3	g.122284674G>T	CA354160623	CASR	c.2489G>T (p.Gly830Val) c.2750G>T (p.Gly917Val) c.2720G>T (p.Gly907Val) c.2237G>T (p.Gly746Val) c.2132G>T (p.Gly711Val)
3	g.122284675A>C	CA435425522	CASR	c.2490A>C (p.Gly830=) c.2751A>C (p.Gly917=) c.2721A>C (p.Gly907=) c.2238A>C (p.Gly746=) c.2133A>C (p.Gly711=)
3	g.122284675A>G	CA435425524	CASR	c.2490A>G (p.Gly830=) c.2751A>G (p.Gly917=) c.2721A>G (p.Gly907=) c.2238A>G (p.Gly746=) c.2133A>G (p.Gly711=)
3	g.122284675A>T	CA435425526	CASR	c.2490A>T (p.Gly830=) c.2751A>T (p.Gly917=) c.2721A>T (p.Gly907=) c.2238A>T (p.Gly746=) c.2133A>T (p.Gly711=)
3	g.122284676T>A	CA354160624	CASR	c.2491T>A (p.Ser831Thr) c.2752T>A (p.Ser918Thr) c.2722T>A (p.Ser908Thr) c.2239T>A (p.Ser747Thr) c.2134T>A (p.Ser712Thr)
3	g.122284676T>C	CA354160625	CASR	c.2491T>C (p.Ser831Pro) c.2752T>C (p.Ser918Pro) c.2722T>C (p.Ser908Pro) c.2239T>C (p.Ser747Pro) c.2134T>C (p.Ser712Pro)
3	g.122284676T>G	CA354160626	CASR	c.2491T>G (p.Ser831Ala) c.2752T>G (p.Ser918Ala) c.2722T>G (p.Ser908Ala) c.2239T>G (p.Ser747Ala) c.2134T>G (p.Ser712Ala)
3	g.122284677C>A	CA2569853	CASR	c.2492C>A (p.Ser831Tyr) c.2753C>A (p.Ser918Tyr) c.2723C>A (p.Ser908Tyr) c.2240C>A (p.Ser747Tyr) c.2135C>A (p.Ser712Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284677C=	CA1397872848	CASR	c.2492C= (p.Ser831=) c.2753C= (p.Ser918=) c.2723C= (p.Ser908=) c.2240C= (p.Ser747=) c.2135C= (p.Ser712=)
3	g.122284677C>G	CA354160627	CASR	c.2492C>G (p.Ser831Cys) c.2753C>G (p.Ser918Cys) c.2723C>G (p.Ser908Cys) c.2240C>G (p.Ser747Cys) c.2135C>G (p.Ser712Cys)
3	g.122284677C>T	CA354160628	CASR	c.2492C>T (p.Ser831Phe) c.2753C>T (p.Ser918Phe) c.2723C>T (p.Ser908Phe) c.2240C>T (p.Ser747Phe) c.2135C>T (p.Ser712Phe)
3	g.122284678C>A	CA435425368	CASR	c.2493C>A (p.Ser831=) c.2754C>A (p.Ser918=) c.2724C>A (p.Ser908=) c.2241C>A (p.Ser747=) c.2136C>A (p.Ser712=)
3	g.122284678C>G	CA435425369	CASR	c.2493C>G (p.Ser831=) c.2754C>G (p.Ser918=) c.2724C>G (p.Ser908=) c.2241C>G (p.Ser747=) c.2136C>G (p.Ser712=)
3	g.122284678C>T	CA435425370	CASR	c.2493C>T (p.Ser831=) c.2754C>T (p.Ser918=) c.2724C>T (p.Ser908=) c.2241C>T (p.Ser747=) c.2136C>T (p.Ser712=)
3	g.122284679A=	CA1397872849	CASR	c.2494A= (p.Thr832=) c.2755A= (p.Thr919=) c.2725A= (p.Thr909=) c.2242A= (p.Thr748=) c.2137A= (p.Thr713=)
3	g.122284679A>C	CA354160630	CASR	c.2494A>C (p.Thr832Pro) c.2755A>C (p.Thr919Pro) c.2725A>C (p.Thr909Pro) c.2242A>C (p.Thr748Pro) c.2137A>C (p.Thr713Pro)
3	g.122284679A>G	CA354160631	CASR	c.2494A>G (p.Thr832Ala) c.2755A>G (p.Thr919Ala) c.2725A>G (p.Thr909Ala) c.2242A>G (p.Thr748Ala) c.2137A>G (p.Thr713Ala)	ClinVar dbSNP gnomAD v4
3	g.122284679A>T	CA354160629	CASR	c.2494A>T (p.Thr832Ser) c.2755A>T (p.Thr919Ser) c.2725A>T (p.Thr909Ser) c.2242A>T (p.Thr748Ser) c.2137A>T (p.Thr713Ser)
3	g.122284680C>A	CA354160632	CASR	c.2495C>A (p.Thr832Asn) c.2756C>A (p.Thr919Asn) c.2726C>A (p.Thr909Asn) c.2243C>A (p.Thr748Asn) c.2138C>A (p.Thr713Asn)	ClinVar dbSNP gnomAD v4
3	g.122284680C=	CA1397872851	CASR	c.2495C= (p.Thr832=) c.2756C= (p.Thr919=) c.2726C= (p.Thr909=) c.2243C= (p.Thr748=) c.2138C= (p.Thr713=)
3	g.122284680C>G	CA82749192	CASR	c.2495C>G (p.Thr832Ser) c.2756C>G (p.Thr919Ser) c.2726C>G (p.Thr909Ser) c.2243C>G (p.Thr748Ser) c.2138C>G (p.Thr713Ser)	ClinVar dbSNP gnomAD v4
3	g.122284680C>T	CA354160633	CASR	c.2495C>T (p.Thr832Ile) c.2756C>T (p.Thr919Ile) c.2726C>T (p.Thr909Ile) c.2243C>T (p.Thr748Ile) c.2138C>T (p.Thr713Ile)	ClinVar
3	g.122284684del	CA435425371	CASR	c.2499del (p.Ser834ProfsTer28) c.2760del (p.Ser921ProfsTer28) c.2730del (p.Ser911ProfsTer28) c.2247del (p.Ser750ProfsTer28) c.2142del (p.Ser715ProfsTer28)	COSMIC
3	g.122284681C>A	CA435425372	CASR	c.2496C>A (p.Thr832=) c.2757C>A (p.Thr919=) c.2727C>A (p.Thr909=) c.2244C>A (p.Thr748=) c.2139C>A (p.Thr713=)	ClinVar
3	g.122284681C=	CA1397872854	CASR	c.2496C= (p.Thr832=) c.2757C= (p.Thr919=) c.2727C= (p.Thr909=) c.2244C= (p.Thr748=) c.2139C= (p.Thr713=)
3	g.122284681C>G	CA435425373	CASR	c.2496C>G (p.Thr832=) c.2757C>G (p.Thr919=) c.2727C>G (p.Thr909=) c.2244C>G (p.Thr748=) c.2139C>G (p.Thr713=)	ClinVar gnomAD v4
3	g.122284681C>T	CA435425374	CASR	c.2496C>T (p.Thr832=) c.2757C>T (p.Thr919=) c.2727C>T (p.Thr909=) c.2244C>T (p.Thr748=) c.2139C>T (p.Thr713=)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284682C>A	CA354160634	CASR	c.2497C>A (p.Pro833Thr) c.2758C>A (p.Pro920Thr) c.2728C>A (p.Pro910Thr) c.2245C>A (p.Pro749Thr) c.2140C>A (p.Pro714Thr)	COSMIC
3	g.122284682C>G	CA354160635	CASR	c.2497C>G (p.Pro833Ala) c.2758C>G (p.Pro920Ala) c.2728C>G (p.Pro910Ala) c.2245C>G (p.Pro749Ala) c.2140C>G (p.Pro714Ala)
3	g.122284682C>T	CA354160636	CASR	c.2497C>T (p.Pro833Ser) c.2758C>T (p.Pro920Ser) c.2728C>T (p.Pro910Ser) c.2245C>T (p.Pro749Ser) c.2140C>T (p.Pro714Ser)
3	g.122284683C>A	CA354160637	CASR	c.2498C>A (p.Pro833His) c.2759C>A (p.Pro920His) c.2729C>A (p.Pro910His) c.2246C>A (p.Pro749His) c.2141C>A (p.Pro714His)	ClinVar gnomAD v4
3	g.122284683C=	CA1397872856	CASR	c.2498C= (p.Pro833=) c.2759C= (p.Pro920=) c.2729C= (p.Pro910=) c.2246C= (p.Pro749=) c.2141C= (p.Pro714=)
3	g.122284683C>G	CA354160638	CASR	c.2498C>G (p.Pro833Arg) c.2759C>G (p.Pro920Arg) c.2729C>G (p.Pro910Arg) c.2246C>G (p.Pro749Arg) c.2141C>G (p.Pro714Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284683C>T	CA354160639	CASR	c.2498C>T (p.Pro833Leu) c.2759C>T (p.Pro920Leu) c.2729C>T (p.Pro910Leu) c.2246C>T (p.Pro749Leu) c.2141C>T (p.Pro714Leu)
3	g.122284691_122284693dup	CA2580616518	CASR	c.2506_2508dup (p.Ser836_Ile837insSer) c.2767_2769dup (p.Ser923_Ile924insSer) c.2737_2739dup (p.Ser913_Ile914insSer) c.2254_2256dup (p.Ser752_Ile753insSer) c.2149_2151dup (p.Ser717_Ile718insSer)	ClinVar
3	g.122284691_122284693del	CA2667224707	CASR	c.2506_2508del (p.Ser836del) c.2767_2769del (p.Ser923del) c.2737_2739del (p.Ser913del) c.2254_2256del (p.Ser752del) c.2149_2151del (p.Ser717del)	gnomAD v4
3	g.122284684C>A	CA203221	CASR	c.2499C>A (p.Pro833=) c.2760C>A (p.Pro920=) c.2730C>A (p.Pro910=) c.2247C>A (p.Pro749=) c.2142C>A (p.Pro714=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284684C=	CA1397872858	CASR	c.2499C= (p.Pro833=) c.2760C= (p.Pro920=) c.2730C= (p.Pro910=) c.2247C= (p.Pro749=) c.2142C= (p.Pro714=)
3	g.122284684C>G	CA435425376	CASR	c.2499C>G (p.Pro833=) c.2760C>G (p.Pro920=) c.2730C>G (p.Pro910=) c.2247C>G (p.Pro749=) c.2142C>G (p.Pro714=)	dbSNP
3	g.122284684C>T	CA82749193	CASR	c.2499C>T (p.Pro833=) c.2760C>T (p.Pro920=) c.2730C>T (p.Pro910=) c.2247C>T (p.Pro749=) c.2142C>T (p.Pro714=)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284685T>A	CA354160640	CASR	c.2500T>A (p.Ser834Thr) c.2761T>A (p.Ser921Thr) c.2731T>A (p.Ser911Thr) c.2248T>A (p.Ser750Thr) c.2143T>A (p.Ser715Thr)
3	g.122284685T>C	CA354160641	CASR	c.2500T>C (p.Ser834Pro) c.2761T>C (p.Ser921Pro) c.2731T>C (p.Ser911Pro) c.2248T>C (p.Ser750Pro) c.2143T>C (p.Ser715Pro)
3	g.122284685T>G	CA354160642	CASR	c.2500T>G (p.Ser834Ala) c.2761T>G (p.Ser921Ala) c.2731T>G (p.Ser911Ala) c.2248T>G (p.Ser750Ala) c.2143T>G (p.Ser715Ala)
3	g.122284686C>A	CA354160645	CASR	c.2501C>A (p.Ser834Tyr) c.2762C>A (p.Ser921Tyr) c.2732C>A (p.Ser911Tyr) c.2249C>A (p.Ser750Tyr) c.2144C>A (p.Ser715Tyr)
3	g.122284686C>G	CA354160644	CASR	c.2501C>G (p.Ser834Cys) c.2762C>G (p.Ser921Cys) c.2732C>G (p.Ser911Cys) c.2249C>G (p.Ser750Cys) c.2144C>G (p.Ser715Cys)
3	g.122284686C>T	CA354160643	CASR	c.2501C>T (p.Ser834Phe) c.2762C>T (p.Ser921Phe) c.2732C>T (p.Ser911Phe) c.2249C>T (p.Ser750Phe) c.2144C>T (p.Ser715Phe)
3	g.122284687C>A	CA435425380	CASR	c.2502C>A (p.Ser834=) c.2763C>A (p.Ser921=) c.2733C>A (p.Ser911=) c.2250C>A (p.Ser750=) c.2145C>A (p.Ser715=)
3	g.122284687C>G	CA435425381	CASR	c.2502C>G (p.Ser834=) c.2763C>G (p.Ser921=) c.2733C>G (p.Ser911=) c.2250C>G (p.Ser750=) c.2145C>G (p.Ser715=)
3	g.122284687C>T	CA435425382	CASR	c.2502C>T (p.Ser834=) c.2763C>T (p.Ser921=) c.2733C>T (p.Ser911=) c.2250C>T (p.Ser750=) c.2145C>T (p.Ser715=)
3	g.122284688T>A	CA354160646	CASR	c.2503T>A (p.Ser835Thr) c.2764T>A (p.Ser922Thr) c.2734T>A (p.Ser912Thr) c.2251T>A (p.Ser751Thr) c.2146T>A (p.Ser716Thr)
3	g.122284688T>C	CA354160647	CASR	c.2503T>C (p.Ser835Pro) c.2764T>C (p.Ser922Pro) c.2734T>C (p.Ser912Pro) c.2251T>C (p.Ser751Pro) c.2146T>C (p.Ser716Pro)
3	g.122284688T>G	CA354160648	CASR	c.2503T>G (p.Ser835Ala) c.2764T>G (p.Ser922Ala) c.2734T>G (p.Ser912Ala) c.2251T>G (p.Ser751Ala) c.2146T>G (p.Ser716Ala)
3	g.122284689C>A	CA354160649	CASR	c.2504C>A (p.Ser835Tyr) c.2765C>A (p.Ser922Tyr) c.2735C>A (p.Ser912Tyr) c.2252C>A (p.Ser751Tyr) c.2147C>A (p.Ser716Tyr)
3	g.122284689C=	CA1397872861	CASR	c.2504C= (p.Ser835=) c.2765C= (p.Ser922=) c.2735C= (p.Ser912=) c.2252C= (p.Ser751=) c.2147C= (p.Ser716=)
3	g.122284689C>G	CA354160650	CASR	c.2504C>G (p.Ser835Cys) c.2765C>G (p.Ser922Cys) c.2735C>G (p.Ser912Cys) c.2252C>G (p.Ser751Cys) c.2147C>G (p.Ser716Cys)
3	g.122284689C>T	CA354160651	CASR	c.2504C>T (p.Ser835Phe) c.2765C>T (p.Ser922Phe) c.2735C>T (p.Ser912Phe) c.2252C>T (p.Ser751Phe) c.2147C>T (p.Ser716Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122284690C>A	CA435425386	CASR	c.2505C>A (p.Ser835=) c.2766C>A (p.Ser922=) c.2736C>A (p.Ser912=) c.2253C>A (p.Ser751=) c.2148C>A (p.Ser716=)
3	g.122284690C=	CA1397872863	CASR	c.2505C= (p.Ser835=) c.2766C= (p.Ser922=) c.2736C= (p.Ser912=) c.2253C= (p.Ser751=) c.2148C= (p.Ser716=)
3	g.122284690C>G	CA435425387	CASR	c.2505C>G (p.Ser835=) c.2766C>G (p.Ser922=) c.2736C>G (p.Ser912=) c.2253C>G (p.Ser751=) c.2148C>G (p.Ser716=)
3	g.122284690C>T	CA2569854	CASR	c.2505C>T (p.Ser835=) c.2766C>T (p.Ser922=) c.2736C>T (p.Ser912=) c.2253C>T (p.Ser751=) c.2148C>T (p.Ser716=)	ClinVar dbSNP ExAC gnomAD v4
3	g.122284691T>A	CA354160652	CASR	c.2506T>A (p.Ser836Thr) c.2767T>A (p.Ser923Thr) c.2737T>A (p.Ser913Thr) c.2254T>A (p.Ser752Thr) c.2149T>A (p.Ser717Thr)
3	g.122284691T>C	CA354160653	CASR	c.2506T>C (p.Ser836Pro) c.2767T>C (p.Ser923Pro) c.2737T>C (p.Ser913Pro) c.2254T>C (p.Ser752Pro) c.2149T>C (p.Ser717Pro)
3	g.122284691T>G	CA354160654	CASR	c.2506T>G (p.Ser836Ala) c.2767T>G (p.Ser923Ala) c.2737T>G (p.Ser913Ala) c.2254T>G (p.Ser752Ala) c.2149T>G (p.Ser717Ala)
3	g.122284692C>A	CA354160655	CASR	c.2507C>A (p.Ser836Tyr) c.2768C>A (p.Ser923Tyr) c.2738C>A (p.Ser913Tyr) c.2255C>A (p.Ser752Tyr) c.2150C>A (p.Ser717Tyr)
3	g.122284692C=	CA1397872864	CASR	c.2507C= (p.Ser836=) c.2768C= (p.Ser923=) c.2738C= (p.Ser913=) c.2255C= (p.Ser752=) c.2150C= (p.Ser717=)
3	g.122284692C>G	CA354160656	CASR	c.2507C>G (p.Ser836Cys) c.2768C>G (p.Ser923Cys) c.2738C>G (p.Ser913Cys) c.2255C>G (p.Ser752Cys) c.2150C>G (p.Ser717Cys)
3	g.122284692C>T	CA2569855	CASR	c.2507C>T (p.Ser836Phe) c.2768C>T (p.Ser923Phe) c.2738C>T (p.Ser913Phe) c.2255C>T (p.Ser752Phe) c.2150C>T (p.Ser717Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284693C>A	CA435425391	CASR	c.2508C>A (p.Ser836=) c.2769C>A (p.Ser923=) c.2739C>A (p.Ser913=) c.2256C>A (p.Ser752=) c.2151C>A (p.Ser717=)	ClinVar dbSNP
3	g.122284693C=	CA1397872866	CASR	c.2508C= (p.Ser836=) c.2769C= (p.Ser923=) c.2739C= (p.Ser913=) c.2256C= (p.Ser752=) c.2151C= (p.Ser717=)
3	g.122284693C>G	CA435425390	CASR	c.2508C>G (p.Ser836=) c.2769C>G (p.Ser923=) c.2739C>G (p.Ser913=) c.2256C>G (p.Ser752=) c.2151C>G (p.Ser717=)
3	g.122284693C>T	CA435425389	CASR	c.2508C>T (p.Ser836=) c.2769C>T (p.Ser923=) c.2739C>T (p.Ser913=) c.2256C>T (p.Ser752=) c.2151C>T (p.Ser717=)	ClinVar dbSNP gnomAD v4
3	g.122284694A>C	CA354160658	CASR	c.2509A>C (p.Ile837Leu) c.2770A>C (p.Ile924Leu) c.2740A>C (p.Ile914Leu) c.2257A>C (p.Ile753Leu) c.2152A>C (p.Ile718Leu)
3	g.122284694A>G	CA354160659	CASR	c.2509A>G (p.Ile837Val) c.2770A>G (p.Ile924Val) c.2740A>G (p.Ile914Val) c.2257A>G (p.Ile753Val) c.2152A>G (p.Ile718Val)
3	g.122284694A>T	CA354160657	CASR	c.2509A>T (p.Ile837Phe) c.2770A>T (p.Ile924Phe) c.2740A>T (p.Ile914Phe) c.2257A>T (p.Ile753Phe) c.2152A>T (p.Ile718Phe)
3	g.122284695T>A	CA354160661	CASR	c.2510T>A (p.Ile837Asn) c.2771T>A (p.Ile924Asn) c.2741T>A (p.Ile914Asn) c.2258T>A (p.Ile753Asn) c.2153T>A (p.Ile718Asn)	ClinVar gnomAD v4
3	g.122284695T>C	CA354160660	CASR	c.2510T>C (p.Ile837Thr) c.2771T>C (p.Ile924Thr) c.2741T>C (p.Ile914Thr) c.2258T>C (p.Ile753Thr) c.2153T>C (p.Ile718Thr)	ClinVar dbSNP
3	g.122284695T>G	CA354160662	CASR	c.2510T>G (p.Ile837Ser) c.2771T>G (p.Ile924Ser) c.2741T>G (p.Ile914Ser) c.2258T>G (p.Ile753Ser) c.2153T>G (p.Ile718Ser)
3	g.122284695T=	CA1397872867	CASR	c.2510T= (p.Ile837=) c.2771T= (p.Ile924=) c.2741T= (p.Ile914=) c.2258T= (p.Ile753=) c.2153T= (p.Ile718=)
3	g.122284696C>A	CA435425393	CASR	c.2511C>A (p.Ile837=) c.2772C>A (p.Ile924=) c.2742C>A (p.Ile914=) c.2259C>A (p.Ile753=) c.2154C>A (p.Ile718=)
3	g.122284696C=	CA1397872869	CASR	c.2511C= (p.Ile837=) c.2772C= (p.Ile924=) c.2742C= (p.Ile914=) c.2259C= (p.Ile753=) c.2154C= (p.Ile718=)
3	g.122284696C>G	CA354160663	CASR	c.2511C>G (p.Ile837Met) c.2772C>G (p.Ile924Met) c.2742C>G (p.Ile914Met) c.2259C>G (p.Ile753Met) c.2154C>G (p.Ile718Met)
3	g.122284696C>T	CA2569856	CASR	c.2511C>T (p.Ile837=) c.2772C>T (p.Ile924=) c.2742C>T (p.Ile914=) c.2259C>T (p.Ile753=) c.2154C>T (p.Ile718=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284701_122284703dup	CA2740094576	CASR	c.2516_2518dup (p.Ser839_Lys840insSer) c.2777_2779dup (p.Ser926_Lys927insSer) c.2747_2749dup (p.Ser916_Lys917insSer) c.2264_2266dup (p.Ser755_Lys756insSer) c.2159_2161dup (p.Ser720_Lys721insSer)	ClinVar
3	g.122284697A=	CA1397872871	CASR	c.2512A= (p.Ser838=) c.2773A= (p.Ser925=) c.2743A= (p.Ser915=) c.2260A= (p.Ser754=) c.2155A= (p.Ser719=)
3	g.122284697A>C	CA354160664	CASR	c.2512A>C (p.Ser838Arg) c.2773A>C (p.Ser925Arg) c.2743A>C (p.Ser915Arg) c.2260A>C (p.Ser754Arg) c.2155A>C (p.Ser719Arg)
3	g.122284697A>G	CA354160666	CASR	c.2512A>G (p.Ser838Gly) c.2773A>G (p.Ser925Gly) c.2743A>G (p.Ser915Gly) c.2260A>G (p.Ser754Gly) c.2155A>G (p.Ser719Gly)	dbSNP
3	g.122284697A>T	CA354160665	CASR	c.2512A>T (p.Ser838Cys) c.2773A>T (p.Ser925Cys) c.2743A>T (p.Ser915Cys) c.2260A>T (p.Ser754Cys) c.2155A>T (p.Ser719Cys)
3	g.122284698G>A	CA354160667	CASR	c.2513G>A (p.Ser838Asn) c.2774G>A (p.Ser925Asn) c.2744G>A (p.Ser915Asn) c.2261G>A (p.Ser754Asn) c.2156G>A (p.Ser719Asn)
3	g.122284698G>C	CA354160668	CASR	c.2513G>C (p.Ser838Thr) c.2774G>C (p.Ser925Thr) c.2744G>C (p.Ser915Thr) c.2261G>C (p.Ser754Thr) c.2156G>C (p.Ser719Thr)	ClinVar dbSNP
3	g.122284698G>T	CA354160669	CASR	c.2513G>T (p.Ser838Ile) c.2774G>T (p.Ser925Ile) c.2744G>T (p.Ser915Ile) c.2261G>T (p.Ser754Ile) c.2156G>T (p.Ser719Ile)
3	g.122284699C>A	CA354160670	CASR	c.2514C>A (p.Ser838Arg) c.2775C>A (p.Ser925Arg) c.2745C>A (p.Ser915Arg) c.2262C>A (p.Ser754Arg) c.2157C>A (p.Ser719Arg)
3	g.122284699C>G	CA354160671	CASR	c.2514C>G (p.Ser838Arg) c.2775C>G (p.Ser925Arg) c.2745C>G (p.Ser915Arg) c.2262C>G (p.Ser754Arg) c.2157C>G (p.Ser719Arg)
3	g.122284699C>T	CA435425396	CASR	c.2514C>T (p.Ser838=) c.2775C>T (p.Ser925=) c.2745C>T (p.Ser915=) c.2262C>T (p.Ser754=) c.2157C>T (p.Ser719=)	gnomAD v4
3	g.122284700A>C	CA354160672	CASR	c.2515A>C (p.Ser839Arg) c.2776A>C (p.Ser926Arg) c.2746A>C (p.Ser916Arg) c.2263A>C (p.Ser755Arg) c.2158A>C (p.Ser720Arg)
3	g.122284700A>G	CA354160673	CASR	c.2515A>G (p.Ser839Gly) c.2776A>G (p.Ser926Gly) c.2746A>G (p.Ser916Gly) c.2263A>G (p.Ser755Gly) c.2158A>G (p.Ser720Gly)
3	g.122284700A>T	CA354160674	CASR	c.2515A>T (p.Ser839Cys) c.2776A>T (p.Ser926Cys) c.2746A>T (p.Ser916Cys) c.2263A>T (p.Ser755Cys) c.2158A>T (p.Ser720Cys)
3	g.122284701G>A	CA354160675	CASR	c.2516G>A (p.Ser839Asn) c.2777G>A (p.Ser926Asn) c.2747G>A (p.Ser916Asn) c.2264G>A (p.Ser755Asn) c.2159G>A (p.Ser720Asn)
3	g.122284701G>C	CA354160676	CASR	c.2516G>C (p.Ser839Thr) c.2777G>C (p.Ser926Thr) c.2747G>C (p.Ser916Thr) c.2264G>C (p.Ser755Thr) c.2159G>C (p.Ser720Thr)
3	g.122284701G>T	CA354160677	CASR	c.2516G>T (p.Ser839Ile) c.2777G>T (p.Ser926Ile) c.2747G>T (p.Ser916Ile) c.2264G>T (p.Ser755Ile) c.2159G>T (p.Ser720Ile)
3	g.122284702C>A	CA354160679	CASR	c.2517C>A (p.Ser839Arg) c.2778C>A (p.Ser926Arg) c.2748C>A (p.Ser916Arg) c.2265C>A (p.Ser755Arg) c.2160C>A (p.Ser720Arg)
3	g.122284702C>G	CA354160678	CASR	c.2517C>G (p.Ser839Arg) c.2778C>G (p.Ser926Arg) c.2748C>G (p.Ser916Arg) c.2265C>G (p.Ser755Arg) c.2160C>G (p.Ser720Arg)
3	g.122284702C>T	CA435425400	CASR	c.2517C>T (p.Ser839=) c.2778C>T (p.Ser926=) c.2748C>T (p.Ser916=) c.2265C>T (p.Ser755=) c.2160C>T (p.Ser720=)
3	g.122284703A>C	CA354160680	CASR	c.2518A>C (p.Lys840Gln) c.2779A>C (p.Lys927Gln) c.2749A>C (p.Lys917Gln) c.2266A>C (p.Lys756Gln) c.2161A>C (p.Lys721Gln)
3	g.122284703A>G	CA354160681	CASR	c.2518A>G (p.Lys840Glu) c.2779A>G (p.Lys927Glu) c.2749A>G (p.Lys917Glu) c.2266A>G (p.Lys756Glu) c.2161A>G (p.Lys721Glu)	ClinVar
3	g.122284703A>T	CA354160682	CASR	c.2518A>T (p.Lys840Ter) c.2779A>T (p.Lys927Ter) c.2749A>T (p.Lys917Ter) c.2266A>T (p.Lys756Ter) c.2161A>T (p.Lys721Ter)
3	g.122284704A>C	CA354160683	CASR	c.2519A>C (p.Lys840Thr) c.2780A>C (p.Lys927Thr) c.2750A>C (p.Lys917Thr) c.2267A>C (p.Lys756Thr) c.2162A>C (p.Lys721Thr)
3	g.122284704A>G	CA354160684	CASR	c.2519A>G (p.Lys840Arg) c.2780A>G (p.Lys927Arg) c.2750A>G (p.Lys917Arg) c.2267A>G (p.Lys756Arg) c.2162A>G (p.Lys721Arg)	ClinVar
3	g.122284704A>T	CA354160685	CASR	c.2519A>T (p.Lys840Met) c.2780A>T (p.Lys927Met) c.2750A>T (p.Lys917Met) c.2267A>T (p.Lys756Met) c.2162A>T (p.Lys721Met)
3	g.122284705G>A	CA435425402	CASR	c.2520G>A (p.Lys840=) c.2781G>A (p.Lys927=) c.2751G>A (p.Lys917=) c.2268G>A (p.Lys756=) c.2163G>A (p.Lys721=)
3	g.122284705G>C	CA354160686	CASR	c.2520G>C (p.Lys840Asn) c.2781G>C (p.Lys927Asn) c.2751G>C (p.Lys917Asn) c.2268G>C (p.Lys756Asn) c.2163G>C (p.Lys721Asn)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284705G=	CA1397872873	CASR	c.2520G= (p.Lys840=) c.2781G= (p.Lys927=) c.2751G= (p.Lys917=) c.2268G= (p.Lys756=) c.2163G= (p.Lys721=)
3	g.122284705G>T	CA354160687	CASR	c.2520G>T (p.Lys840Asn) c.2781G>T (p.Lys927Asn) c.2751G>T (p.Lys917Asn) c.2268G>T (p.Lys756Asn) c.2163G>T (p.Lys721Asn)
3	g.122284706A>C	CA354160688	CASR	c.2521A>C (p.Ser841Arg) c.2782A>C (p.Ser928Arg) c.2752A>C (p.Ser918Arg) c.2269A>C (p.Ser757Arg) c.2164A>C (p.Ser722Arg)
3	g.122284706A>G	CA354160689	CASR	c.2521A>G (p.Ser841Gly) c.2782A>G (p.Ser928Gly) c.2752A>G (p.Ser918Gly) c.2269A>G (p.Ser757Gly) c.2164A>G (p.Ser722Gly)
3	g.122284706A>T	CA354160690	CASR	c.2521A>T (p.Ser841Cys) c.2782A>T (p.Ser928Cys) c.2752A>T (p.Ser918Cys) c.2269A>T (p.Ser757Cys) c.2164A>T (p.Ser722Cys)
3	g.122284707G>A	CA354160693	CASR	c.2522G>A (p.Ser841Asn) c.2783G>A (p.Ser928Asn) c.2753G>A (p.Ser918Asn) c.2270G>A (p.Ser757Asn) c.2165G>A (p.Ser722Asn)
3	g.122284707G>C	CA354160692	CASR	c.2522G>C (p.Ser841Thr) c.2783G>C (p.Ser928Thr) c.2753G>C (p.Ser918Thr) c.2270G>C (p.Ser757Thr) c.2165G>C (p.Ser722Thr)
3	g.122284707G>T	CA354160691	CASR	c.2522G>T (p.Ser841Ile) c.2783G>T (p.Ser928Ile) c.2753G>T (p.Ser918Ile) c.2270G>T (p.Ser757Ile) c.2165G>T (p.Ser722Ile)
3	g.122284708C>A	CA354160694	CASR	c.2523C>A (p.Ser841Arg) c.2784C>A (p.Ser928Arg) c.2754C>A (p.Ser918Arg) c.2271C>A (p.Ser757Arg) c.2166C>A (p.Ser722Arg)
3	g.122284708C>G	CA354160695	CASR	c.2523C>G (p.Ser841Arg) c.2784C>G (p.Ser928Arg) c.2754C>G (p.Ser918Arg) c.2271C>G (p.Ser757Arg) c.2166C>G (p.Ser722Arg)
3	g.122284708C>T	CA435425405	CASR	c.2523C>T (p.Ser841=) c.2784C>T (p.Ser928=) c.2754C>T (p.Ser918=) c.2271C>T (p.Ser757=) c.2166C>T (p.Ser722=)
3	g.122284709A=	CA1397872874	CASR	c.2524A= (p.Asn842=) c.2785A= (p.Asn929=) c.2755A= (p.Asn919=) c.2272A= (p.Asn758=) c.2167A= (p.Asn723=)
3	g.122284709A>C	CA354160696	CASR	c.2524A>C (p.Asn842His) c.2785A>C (p.Asn929His) c.2755A>C (p.Asn919His) c.2272A>C (p.Asn758His) c.2167A>C (p.Asn723His)
3	g.122284709A>G	CA82749202	CASR	c.2524A>G (p.Asn842Asp) c.2785A>G (p.Asn929Asp) c.2755A>G (p.Asn919Asp) c.2272A>G (p.Asn758Asp) c.2167A>G (p.Asn723Asp)	dbSNP
3	g.122284709A>T	CA354160697	CASR	c.2524A>T (p.Asn842Tyr) c.2785A>T (p.Asn929Tyr) c.2755A>T (p.Asn919Tyr) c.2272A>T (p.Asn758Tyr) c.2167A>T (p.Asn723Tyr)
3	g.122284710A>C	CA354160698	CASR	c.2525A>C (p.Asn842Thr) c.2786A>C (p.Asn929Thr) c.2756A>C (p.Asn919Thr) c.2273A>C (p.Asn758Thr) c.2168A>C (p.Asn723Thr)
3	g.122284710A>G	CA354160699	CASR	c.2525A>G (p.Asn842Ser) c.2786A>G (p.Asn929Ser) c.2756A>G (p.Asn919Ser) c.2273A>G (p.Asn758Ser) c.2168A>G (p.Asn723Ser)	ClinVar
3	g.122284710A>T	CA354160700	CASR	c.2525A>T (p.Asn842Ile) c.2786A>T (p.Asn929Ile) c.2756A>T (p.Asn919Ile) c.2273A>T (p.Asn758Ile) c.2168A>T (p.Asn723Ile)
3	g.122284711C>A	CA354160701	CASR	c.2526C>A (p.Asn842Lys) c.2787C>A (p.Asn929Lys) c.2757C>A (p.Asn919Lys) c.2274C>A (p.Asn758Lys) c.2169C>A (p.Asn723Lys)
3	g.122284711C>G	CA354160702	CASR	c.2526C>G (p.Asn842Lys) c.2787C>G (p.Asn929Lys) c.2757C>G (p.Asn919Lys) c.2274C>G (p.Asn758Lys) c.2169C>G (p.Asn723Lys)
3	g.122284711C>T	CA435425408	CASR	c.2526C>T (p.Asn842=) c.2787C>T (p.Asn929=) c.2757C>T (p.Asn919=) c.2274C>T (p.Asn758=) c.2169C>T (p.Asn723=)	ClinVar gnomAD v4
3	g.122284712A=	CA1397872876	CASR	c.2527A= (p.Ser843=) c.2788A= (p.Ser930=) c.2758A= (p.Ser920=) c.2275A= (p.Ser759=) c.2170A= (p.Ser724=)
3	g.122284712A>C	CA354160703	CASR	c.2527A>C (p.Ser843Arg) c.2788A>C (p.Ser930Arg) c.2758A>C (p.Ser920Arg) c.2275A>C (p.Ser759Arg) c.2170A>C (p.Ser724Arg)
3	g.122284712A>G	CA354160704	CASR	c.2527A>G (p.Ser843Gly) c.2788A>G (p.Ser930Gly) c.2758A>G (p.Ser920Gly) c.2275A>G (p.Ser759Gly) c.2170A>G (p.Ser724Gly)	dbSNP
3	g.122284712A>T	CA354160705	CASR	c.2527A>T (p.Ser843Cys) c.2788A>T (p.Ser930Cys) c.2758A>T (p.Ser920Cys) c.2275A>T (p.Ser759Cys) c.2170A>T (p.Ser724Cys)
3	g.122284713G>A	CA2569857	CASR	c.2528G>A (p.Ser843Asn) c.2789G>A (p.Ser930Asn) c.2759G>A (p.Ser920Asn) c.2276G>A (p.Ser759Asn) c.2171G>A (p.Ser724Asn)	ClinVar dbSNP ExAC gnomAD v4
3	g.122284713G>C	CA354160707	CASR	c.2528G>C (p.Ser843Thr) c.2789G>C (p.Ser930Thr) c.2759G>C (p.Ser920Thr) c.2276G>C (p.Ser759Thr) c.2171G>C (p.Ser724Thr)
3	g.122284713G=	CA1397872877	CASR	c.2528G= (p.Ser843=) c.2789G= (p.Ser930=) c.2759G= (p.Ser920=) c.2276G= (p.Ser759=) c.2171G= (p.Ser724=)
3	g.122284713G>T	CA354160706	CASR	c.2528G>T (p.Ser843Ile) c.2789G>T (p.Ser930Ile) c.2759G>T (p.Ser920Ile) c.2276G>T (p.Ser759Ile) c.2171G>T (p.Ser724Ile)
3	g.122284714C>A	CA354160708	CASR	c.2529C>A (p.Ser843Arg) c.2790C>A (p.Ser930Arg) c.2760C>A (p.Ser920Arg) c.2277C>A (p.Ser759Arg) c.2172C>A (p.Ser724Arg)
3	g.122284714C=	CA1397872878	CASR	c.2529C= (p.Ser843=) c.2790C= (p.Ser930=) c.2760C= (p.Ser920=) c.2277C= (p.Ser759=) c.2172C= (p.Ser724=)
3	g.122284714C>G	CA2569858	CASR	c.2529C>G (p.Ser843Arg) c.2790C>G (p.Ser930Arg) c.2760C>G (p.Ser920Arg) c.2277C>G (p.Ser759Arg) c.2172C>G (p.Ser724Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284714C>T	CA435425411	CASR	c.2529C>T (p.Ser843=) c.2790C>T (p.Ser930=) c.2760C>T (p.Ser920=) c.2277C>T (p.Ser759=) c.2172C>T (p.Ser724=)	ClinVar dbSNP
3	g.122284715G>A	CA2569859	CASR	c.2530G>A (p.Glu844Lys) c.2791G>A (p.Glu931Lys) c.2761G>A (p.Glu921Lys) c.2278G>A (p.Glu760Lys) c.2173G>A (p.Glu725Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284715G>C	CA354160709	CASR	c.2530G>C (p.Glu844Gln) c.2791G>C (p.Glu931Gln) c.2761G>C (p.Glu921Gln) c.2278G>C (p.Glu760Gln) c.2173G>C (p.Glu725Gln)
3	g.122284715G=	CA1397872880	CASR	c.2530G= (p.Glu844=) c.2791G= (p.Glu931=) c.2761G= (p.Glu921=) c.2278G= (p.Glu760=) c.2173G= (p.Glu725=)
3	g.122284715G>T	CA354160710	CASR	c.2530G>T (p.Glu844Ter) c.2791G>T (p.Glu931Ter) c.2761G>T (p.Glu921Ter) c.2278G>T (p.Glu760Ter) c.2173G>T (p.Glu725Ter)
3	g.122284716A>C	CA354160711	CASR	c.2531A>C (p.Glu844Ala) c.2792A>C (p.Glu931Ala) c.2762A>C (p.Glu921Ala) c.2279A>C (p.Glu760Ala) c.2174A>C (p.Glu725Ala)
3	g.122284716A>G	CA354160712	CASR	c.2531A>G (p.Glu844Gly) c.2792A>G (p.Glu931Gly) c.2762A>G (p.Glu921Gly) c.2279A>G (p.Glu760Gly) c.2174A>G (p.Glu725Gly)
3	g.122284716A>T	CA354160713	CASR	c.2531A>T (p.Glu844Val) c.2792A>T (p.Glu931Val) c.2762A>T (p.Glu921Val) c.2279A>T (p.Glu760Val) c.2174A>T (p.Glu725Val)
3	g.122284717A>C	CA354160714	CASR	c.2532A>C (p.Glu844Asp) c.2793A>C (p.Glu931Asp) c.2763A>C (p.Glu921Asp) c.2280A>C (p.Glu760Asp) c.2175A>C (p.Glu725Asp)
3	g.122284717A>G	CA435425413	CASR	c.2532A>G (p.Glu844=) c.2793A>G (p.Glu931=) c.2763A>G (p.Glu921=) c.2280A>G (p.Glu760=) c.2175A>G (p.Glu725=)	ClinVar
3	g.122284717A>T	CA354160715	CASR	c.2532A>T (p.Glu844Asp) c.2793A>T (p.Glu931Asp) c.2763A>T (p.Glu921Asp) c.2280A>T (p.Glu760Asp) c.2175A>T (p.Glu725Asp)
3	g.122284718G>A	CA354160717	CASR	c.2533G>A (p.Asp845Asn) c.2794G>A (p.Asp932Asn) c.2764G>A (p.Asp922Asn) c.2281G>A (p.Asp761Asn) c.2176G>A (p.Asp726Asn)
3	g.122284718G>C	CA2569860	CASR	c.2533G>C (p.Asp845His) c.2794G>C (p.Asp932His) c.2764G>C (p.Asp922His) c.2281G>C (p.Asp761His) c.2176G>C (p.Asp726His)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284718G=	CA1397872882	CASR	c.2533G= (p.Asp845=) c.2794G= (p.Asp932=) c.2764G= (p.Asp922=) c.2281G= (p.Asp761=) c.2176G= (p.Asp726=)
3	g.122284718G>T	CA354160716	CASR	c.2533G>T (p.Asp845Tyr) c.2794G>T (p.Asp932Tyr) c.2764G>T (p.Asp922Tyr) c.2281G>T (p.Asp761Tyr) c.2176G>T (p.Asp726Tyr)
3	g.122284719A>C	CA354160718	CASR	c.2534A>C (p.Asp845Ala) c.2795A>C (p.Asp932Ala) c.2765A>C (p.Asp922Ala) c.2282A>C (p.Asp761Ala) c.2177A>C (p.Asp726Ala)
3	g.122284719A>G	CA354160719	CASR	c.2534A>G (p.Asp845Gly) c.2795A>G (p.Asp932Gly) c.2765A>G (p.Asp922Gly) c.2282A>G (p.Asp761Gly) c.2177A>G (p.Asp726Gly)
3	g.122284719A>T	CA354160720	CASR	c.2534A>T (p.Asp845Val) c.2795A>T (p.Asp932Val) c.2765A>T (p.Asp922Val) c.2282A>T (p.Asp761Val) c.2177A>T (p.Asp726Val)
3	g.122284719_122284720delinsAC	CA1397872883	CASR	c.2534_2535delinsAC (p.Asp845=) c.2795_2796delinsAC (p.Asp932=) c.2765_2766delinsAC (p.Asp922=) c.2282_2283delinsAC (p.Asp761=) c.2177_2178delinsAC (p.Asp726=)
3	g.122284720C>A	CA354160721	CASR	c.2535C>A (p.Asp845Glu) c.2796C>A (p.Asp932Glu) c.2766C>A (p.Asp922Glu) c.2283C>A (p.Asp761Glu) c.2178C>A (p.Asp726Glu)
3	g.122284720C>G	CA354160722	CASR	c.2535C>G (p.Asp845Glu) c.2796C>G (p.Asp932Glu) c.2766C>G (p.Asp922Glu) c.2283C>G (p.Asp761Glu) c.2178C>G (p.Asp726Glu)
3	g.122284720C>T	CA435425415	CASR	c.2535C>T (p.Asp845=) c.2796C>T (p.Asp932=) c.2766C>T (p.Asp922=) c.2283C>T (p.Asp761=) c.2178C>T (p.Asp726=)	ClinVar gnomAD v4
3	g.122284722del	CA82749217	CASR	c.2537del (p.Pro846HisfsTer16) c.2798del (p.Pro933HisfsTer16) c.2768del (p.Pro923HisfsTer16) c.2285del (p.Pro762HisfsTer16) c.2180del (p.Pro727HisfsTer16)	dbSNP gnomAD v2 gnomAD v4
3	g.122284721C>A	CA354160723	CASR	c.2536C>A (p.Pro846Thr) c.2797C>A (p.Pro933Thr) c.2767C>A (p.Pro923Thr) c.2284C>A (p.Pro762Thr) c.2179C>A (p.Pro727Thr)
3	g.122284721C=	CA1397872885	CASR	c.2536C= (p.Pro846=) c.2797C= (p.Pro933=) c.2767C= (p.Pro923=) c.2284C= (p.Pro762=) c.2179C= (p.Pro727=)
3	g.122284721C>G	CA2569861	CASR	c.2536C>G (p.Pro846Ala) c.2797C>G (p.Pro933Ala) c.2767C>G (p.Pro923Ala) c.2284C>G (p.Pro762Ala) c.2179C>G (p.Pro727Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284721C>T	CA354160724	CASR	c.2536C>T (p.Pro846Ser) c.2797C>T (p.Pro933Ser) c.2767C>T (p.Pro923Ser) c.2284C>T (p.Pro762Ser) c.2179C>T (p.Pro727Ser)
3	g.122284721_122284722delinsTT	CA645526044	CASR	c.2536_2537delinsTT (p.Pro846Leu) c.2797_2798delinsTT (p.Pro933Leu) c.2767_2768delinsTT (p.Pro923Leu) c.2284_2285delinsTT (p.Pro762Leu) c.2179_2180delinsTT (p.Pro727Leu)	COSMIC
3	g.122284722C>A	CA354160725	CASR	c.2537C>A (p.Pro846Gln) c.2798C>A (p.Pro933Gln) c.2768C>A (p.Pro923Gln) c.2285C>A (p.Pro762Gln) c.2180C>A (p.Pro727Gln)
3	g.122284722C>G	CA354160726	CASR	c.2537C>G (p.Pro846Arg) c.2798C>G (p.Pro933Arg) c.2768C>G (p.Pro923Arg) c.2285C>G (p.Pro762Arg) c.2180C>G (p.Pro727Arg)
3	g.122284722C>T	CA354160727	CASR	c.2537C>T (p.Pro846Leu) c.2798C>T (p.Pro933Leu) c.2768C>T (p.Pro923Leu) c.2285C>T (p.Pro762Leu) c.2180C>T (p.Pro727Leu)	COSMIC
3	g.122284724_122284731del	CA2695199266	CASR	c.2539_2546del (p.Phe847AlafsTer?) c.2800_2807del (p.Phe934AlafsTer?) c.2770_2777del (p.Phe924AlafsTer?) c.2287_2294del (p.Phe763AlafsTer?) c.2182_2189del (p.Phe728AlafsTer?)	ClinVar
3	g.122284723A=	CA1397872886	CASR	c.2538A= (p.Pro846=) c.2799A= (p.Pro933=) c.2769A= (p.Pro923=) c.2286A= (p.Pro762=) c.2181A= (p.Pro727=)
3	g.122284723A>C	CA435425419	CASR	c.2538A>C (p.Pro846=) c.2799A>C (p.Pro933=) c.2769A>C (p.Pro923=) c.2286A>C (p.Pro762=) c.2181A>C (p.Pro727=)
3	g.122284723A>G	CA2569862	CASR	c.2538A>G (p.Pro846=) c.2799A>G (p.Pro933=) c.2769A>G (p.Pro923=) c.2286A>G (p.Pro762=) c.2181A>G (p.Pro727=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284723A>T	CA435425420	CASR	c.2538A>T (p.Pro846=) c.2799A>T (p.Pro933=) c.2769A>T (p.Pro923=) c.2286A>T (p.Pro762=) c.2181A>T (p.Pro727=)
3	g.122284724T>A	CA354160729	CASR	c.2539T>A (p.Phe847Ile) c.2800T>A (p.Phe934Ile) c.2770T>A (p.Phe924Ile) c.2287T>A (p.Phe763Ile) c.2182T>A (p.Phe728Ile)
3	g.122284724T>C	CA2569863	CASR	c.2539T>C (p.Phe847Leu) c.2800T>C (p.Phe934Leu) c.2770T>C (p.Phe924Leu) c.2287T>C (p.Phe763Leu) c.2182T>C (p.Phe728Leu)	ClinVar dbSNP ExAC gnomAD v2
3	g.122284724T>G	CA354160728	CASR	c.2539T>G (p.Phe847Val) c.2800T>G (p.Phe934Val) c.2770T>G (p.Phe924Val) c.2287T>G (p.Phe763Val) c.2182T>G (p.Phe728Val)	ClinVar
3	g.122284724T=	CA1397872889	CASR	c.2539T= (p.Phe847=) c.2800T= (p.Phe934=) c.2770T= (p.Phe924=) c.2287T= (p.Phe763=) c.2182T= (p.Phe728=)
3	g.122284725T>A	CA354160730	CASR	c.2540T>A (p.Phe847Tyr) c.2801T>A (p.Phe934Tyr) c.2771T>A (p.Phe924Tyr) c.2288T>A (p.Phe763Tyr) c.2183T>A (p.Phe728Tyr)
3	g.122284725T>C	CA82749231	CASR	c.2540T>C (p.Phe847Ser) c.2801T>C (p.Phe934Ser) c.2771T>C (p.Phe924Ser) c.2288T>C (p.Phe763Ser) c.2183T>C (p.Phe728Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284725T>G	CA354160731	CASR	c.2540T>G (p.Phe847Cys) c.2801T>G (p.Phe934Cys) c.2771T>G (p.Phe924Cys) c.2288T>G (p.Phe763Cys) c.2183T>G (p.Phe728Cys)
3	g.122284725T=	CA1397872891	CASR	c.2540T= (p.Phe847=) c.2801T= (p.Phe934=) c.2771T= (p.Phe924=) c.2288T= (p.Phe763=) c.2183T= (p.Phe728=)
3	g.122284734_122284811dup	CA915941534	CASR	c.2549_2626dup (p.Gln875_Gln876insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2810_2887dup (p.Gln962_Gln963insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2780_2857dup (p.Gln952_Gln953insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2297_2374dup (p.Gln791_Gln792insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2192_2269dup (p.Gln756_Gln757insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln)	ClinVar dbSNP gnomAD v4
3	g.122284726C>A	CA354160732	CASR	c.2541C>A (p.Phe847Leu) c.2802C>A (p.Phe934Leu) c.2772C>A (p.Phe924Leu) c.2289C>A (p.Phe763Leu) c.2184C>A (p.Phe728Leu)
3	g.122284726C=	CA1397872893	CASR	c.2541C= (p.Phe847=) c.2802C= (p.Phe934=) c.2772C= (p.Phe924=) c.2289C= (p.Phe763=) c.2184C= (p.Phe728=)
3	g.122284726C>G	CA354160733	CASR	c.2541C>G (p.Phe847Leu) c.2802C>G (p.Phe934Leu) c.2772C>G (p.Phe924Leu) c.2289C>G (p.Phe763Leu) c.2184C>G (p.Phe728Leu)	gnomAD v4
3	g.122284726C>T	CA435425424	CASR	c.2541C>T (p.Phe847=) c.2802C>T (p.Phe934=) c.2772C>T (p.Phe924=) c.2289C>T (p.Phe763=) c.2184C>T (p.Phe728=)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284727C>A	CA354160734	CASR	c.2542C>A (p.Pro848Thr) c.2803C>A (p.Pro935Thr) c.2773C>A (p.Pro925Thr) c.2290C>A (p.Pro764Thr) c.2185C>A (p.Pro729Thr)
3	g.122284727C>G	CA354160735	CASR	c.2542C>G (p.Pro848Ala) c.2803C>G (p.Pro935Ala) c.2773C>G (p.Pro925Ala) c.2290C>G (p.Pro764Ala) c.2185C>G (p.Pro729Ala)
3	g.122284727C>T	CA354160736	CASR	c.2542C>T (p.Pro848Ser) c.2803C>T (p.Pro935Ser) c.2773C>T (p.Pro925Ser) c.2290C>T (p.Pro764Ser) c.2185C>T (p.Pro729Ser)
3	g.122284728C>A	CA354160737	CASR	c.2543C>A (p.Pro848Gln) c.2804C>A (p.Pro935Gln) c.2774C>A (p.Pro925Gln) c.2291C>A (p.Pro764Gln) c.2186C>A (p.Pro729Gln)
3	g.122284728C>G	CA354160738	CASR	c.2543C>G (p.Pro848Arg) c.2804C>G (p.Pro935Arg) c.2774C>G (p.Pro925Arg) c.2291C>G (p.Pro764Arg) c.2186C>G (p.Pro729Arg)
3	g.122284728C>T	CA354160739	CASR	c.2543C>T (p.Pro848Leu) c.2804C>T (p.Pro935Leu) c.2774C>T (p.Pro925Leu) c.2291C>T (p.Pro764Leu) c.2186C>T (p.Pro729Leu)
3	g.122284729A>C	CA435425432	CASR	c.2544A>C (p.Pro848=) c.2805A>C (p.Pro935=) c.2775A>C (p.Pro925=) c.2292A>C (p.Pro764=) c.2187A>C (p.Pro729=)
3	g.122284729A>G	CA435425430	CASR	c.2544A>G (p.Pro848=) c.2805A>G (p.Pro935=) c.2775A>G (p.Pro925=) c.2292A>G (p.Pro764=) c.2187A>G (p.Pro729=)
3	g.122284729A>T	CA435425429	CASR	c.2544A>T (p.Pro848=) c.2805A>T (p.Pro935=) c.2775A>T (p.Pro925=) c.2292A>T (p.Pro764=) c.2187A>T (p.Pro729=)
3	g.122284730C>A	CA354160740	CASR	c.2545C>A (p.Gln849Lys) c.2806C>A (p.Gln936Lys) c.2776C>A (p.Gln926Lys) c.2293C>A (p.Gln765Lys) c.2188C>A (p.Gln730Lys)	gnomAD v4
3	g.122284730C>G	CA354160741	CASR	c.2545C>G (p.Gln849Glu) c.2806C>G (p.Gln936Glu) c.2776C>G (p.Gln926Glu) c.2293C>G (p.Gln765Glu) c.2188C>G (p.Gln730Glu)
3	g.122284730C>T	CA354160742	CASR	c.2545C>T (p.Gln849Ter) c.2806C>T (p.Gln936Ter) c.2776C>T (p.Gln926Ter) c.2293C>T (p.Gln765Ter) c.2188C>T (p.Gln730Ter)	ClinVar dbSNP
3	g.122284731A=	CA1397872894	CASR	c.2546A= (p.Gln849=) c.2807A= (p.Gln936=) c.2777A= (p.Gln926=) c.2294A= (p.Gln765=) c.2189A= (p.Gln730=)
3	g.122284731A>C	CA354160744	CASR	c.2546A>C (p.Gln849Pro) c.2807A>C (p.Gln936Pro) c.2777A>C (p.Gln926Pro) c.2294A>C (p.Gln765Pro) c.2189A>C (p.Gln730Pro)
3	g.122284731A>G	CA216130	CASR	c.2546A>G (p.Gln849Arg) c.2807A>G (p.Gln936Arg) c.2777A>G (p.Gln926Arg) c.2294A>G (p.Gln765Arg) c.2189A>G (p.Gln730Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284731A>T	CA354160743	CASR	c.2546A>T (p.Gln849Leu) c.2807A>T (p.Gln936Leu) c.2777A>T (p.Gln926Leu) c.2294A>T (p.Gln765Leu) c.2189A>T (p.Gln730Leu)
3	g.122284732G>A	CA435425435	CASR	c.2547G>A (p.Gln849=) c.2808G>A (p.Gln936=) c.2778G>A (p.Gln926=) c.2295G>A (p.Gln765=) c.2190G>A (p.Gln730=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
3	g.122284732G>C	CA354160745	CASR	c.2547G>C (p.Gln849His) c.2808G>C (p.Gln936His) c.2778G>C (p.Gln926His) c.2295G>C (p.Gln765His) c.2190G>C (p.Gln730His)	gnomAD v4
3	g.122284732G=	CA1397872896	CASR	c.2547G= (p.Gln849=) c.2808G= (p.Gln936=) c.2778G= (p.Gln926=) c.2295G= (p.Gln765=) c.2190G= (p.Gln730=)
3	g.122284732G>T	CA354160746	CASR	c.2547G>T (p.Gln849His) c.2808G>T (p.Gln936His) c.2778G>T (p.Gln926His) c.2295G>T (p.Gln765His) c.2190G>T (p.Gln730His)
3	g.122284733C>A	CA354160747	CASR	c.2548C>A (p.Pro850Thr) c.2809C>A (p.Pro937Thr) c.2779C>A (p.Pro927Thr) c.2296C>A (p.Pro766Thr) c.2191C>A (p.Pro731Thr)
3	g.122284733C>G	CA354160748	CASR	c.2548C>G (p.Pro850Ala) c.2809C>G (p.Pro937Ala) c.2779C>G (p.Pro927Ala) c.2296C>G (p.Pro766Ala) c.2191C>G (p.Pro731Ala)
3	g.122284733C>T	CA354160749	CASR	c.2548C>T (p.Pro850Ser) c.2809C>T (p.Pro937Ser) c.2779C>T (p.Pro927Ser) c.2296C>T (p.Pro766Ser) c.2191C>T (p.Pro731Ser)	gnomAD v4
3	g.122284734C>A	CA354160750	CASR	c.2549C>A (p.Pro850His) c.2810C>A (p.Pro937His) c.2780C>A (p.Pro927His) c.2297C>A (p.Pro766His) c.2192C>A (p.Pro731His)
3	g.122284734C>G	CA354160751	CASR	c.2549C>G (p.Pro850Arg) c.2810C>G (p.Pro937Arg) c.2780C>G (p.Pro927Arg) c.2297C>G (p.Pro766Arg) c.2192C>G (p.Pro731Arg)
3	g.122284734C>T	CA354160752	CASR	c.2549C>T (p.Pro850Leu) c.2810C>T (p.Pro937Leu) c.2780C>T (p.Pro927Leu) c.2297C>T (p.Pro766Leu) c.2192C>T (p.Pro731Leu)	ClinVar gnomAD v4
3	g.122284735C>A	CA435425439	CASR	c.2550C>A (p.Pro850=) c.2811C>A (p.Pro937=) c.2781C>A (p.Pro927=) c.2298C>A (p.Pro766=) c.2193C>A (p.Pro731=)
3	g.122284735C=	CA1397872898	CASR	c.2550C= (p.Pro850=) c.2811C= (p.Pro937=) c.2781C= (p.Pro927=) c.2298C= (p.Pro766=) c.2193C= (p.Pro731=)
3	g.122284735C>G	CA2569865	CASR	c.2550C>G (p.Pro850=) c.2811C>G (p.Pro937=) c.2781C>G (p.Pro927=) c.2298C>G (p.Pro766=) c.2193C>G (p.Pro731=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284735C>T	CA2569864	CASR	c.2550C>T (p.Pro850=) c.2811C>T (p.Pro937=) c.2781C>T (p.Pro927=) c.2298C>T (p.Pro766=) c.2193C>T (p.Pro731=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3	g.122284736G>A	CA354160753	CASR	c.2551G>A (p.Glu851Lys) c.2812G>A (p.Glu938Lys) c.2782G>A (p.Glu928Lys) c.2299G>A (p.Glu767Lys) c.2194G>A (p.Glu732Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284736G>C	CA354160754	CASR	c.2551G>C (p.Glu851Gln) c.2812G>C (p.Glu938Gln) c.2782G>C (p.Glu928Gln) c.2299G>C (p.Glu767Gln) c.2194G>C (p.Glu732Gln)	ClinVar
3	g.122284736G=	CA1397872900	CASR	c.2551G= (p.Glu851=) c.2812G= (p.Glu938=) c.2782G= (p.Glu928=) c.2299G= (p.Glu767=) c.2194G= (p.Glu732=)
3	g.122284736G>T	CA354160755	CASR	c.2551G>T (p.Glu851Ter) c.2812G>T (p.Glu938Ter) c.2782G>T (p.Glu928Ter) c.2299G>T (p.Glu767Ter) c.2194G>T (p.Glu732Ter)
3	g.122284737A>C	CA354160758	CASR	c.2552A>C (p.Glu851Ala) c.2813A>C (p.Glu938Ala) c.2783A>C (p.Glu928Ala) c.2300A>C (p.Glu767Ala) c.2195A>C (p.Glu732Ala)
3	g.122284737A>G	CA354160756	CASR	c.2552A>G (p.Glu851Gly) c.2813A>G (p.Glu938Gly) c.2783A>G (p.Glu928Gly) c.2300A>G (p.Glu767Gly) c.2195A>G (p.Glu732Gly)	ClinVar
3	g.122284737A>T	CA354160757	CASR	c.2552A>T (p.Glu851Val) c.2813A>T (p.Glu938Val) c.2783A>T (p.Glu928Val) c.2300A>T (p.Glu767Val) c.2195A>T (p.Glu732Val)
3	g.122284738G>A	CA435425444	CASR	c.2553G>A (p.Glu851=) c.2814G>A (p.Glu938=) c.2784G>A (p.Glu928=) c.2301G>A (p.Glu767=) c.2196G>A (p.Glu732=)	dbSNP gnomAD v2 gnomAD v4
3	g.122284738G>C	CA354160759	CASR	c.2553G>C (p.Glu851Asp) c.2814G>C (p.Glu938Asp) c.2784G>C (p.Glu928Asp) c.2301G>C (p.Glu767Asp) c.2196G>C (p.Glu732Asp)	ClinVar
3	g.122284738G=	CA1397872901	CASR	c.2553G= (p.Glu851=) c.2814G= (p.Glu938=) c.2784G= (p.Glu928=) c.2301G= (p.Glu767=) c.2196G= (p.Glu732=)
3	g.122284738G>T	CA354160760	CASR	c.2553G>T (p.Glu851Asp) c.2814G>T (p.Glu938Asp) c.2784G>T (p.Glu928Asp) c.2301G>T (p.Glu767Asp) c.2196G>T (p.Glu732Asp)
3	g.122284739A>C	CA435425446	CASR	c.2554A>C (p.Arg852=) c.2815A>C (p.Arg939=) c.2785A>C (p.Arg929=) c.2302A>C (p.Arg768=) c.2197A>C (p.Arg733=)
3	g.122284739A>G	CA354160761	CASR	c.2554A>G (p.Arg852Gly) c.2815A>G (p.Arg939Gly) c.2785A>G (p.Arg929Gly) c.2302A>G (p.Arg768Gly) c.2197A>G (p.Arg733Gly)	ClinVar gnomAD v4
3	g.122284739A>T	CA354160762	CASR	c.2554A>T (p.Arg852Trp) c.2815A>T (p.Arg939Trp) c.2785A>T (p.Arg929Trp) c.2302A>T (p.Arg768Trp) c.2197A>T (p.Arg733Trp)
3	g.122284740G>A	CA354160763	CASR	c.2555G>A (p.Arg852Lys) c.2816G>A (p.Arg939Lys) c.2786G>A (p.Arg929Lys) c.2303G>A (p.Arg768Lys) c.2198G>A (p.Arg733Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284740G>C	CA354160764	CASR	c.2555G>C (p.Arg852Thr) c.2816G>C (p.Arg939Thr) c.2786G>C (p.Arg929Thr) c.2303G>C (p.Arg768Thr) c.2198G>C (p.Arg733Thr)
3	g.122284740G=	CA1397872903	CASR	c.2555G= (p.Arg852=) c.2816G= (p.Arg939=) c.2786G= (p.Arg929=) c.2303G= (p.Arg768=) c.2198G= (p.Arg733=)
3	g.122284740G>T	CA354160765	CASR	c.2555G>T (p.Arg852Met) c.2816G>T (p.Arg939Met) c.2786G>T (p.Arg929Met) c.2303G>T (p.Arg768Met) c.2198G>T (p.Arg733Met)
3	g.122284741G>A	CA435425448	CASR	c.2556G>A (p.Arg852=) c.2817G>A (p.Arg939=) c.2787G>A (p.Arg929=) c.2304G>A (p.Arg768=) c.2199G>A (p.Arg733=)
3	g.122284741G>C	CA354160766	CASR	c.2556G>C (p.Arg852Ser) c.2817G>C (p.Arg939Ser) c.2787G>C (p.Arg929Ser) c.2304G>C (p.Arg768Ser) c.2199G>C (p.Arg733Ser)
3	g.122284741G>T	CA354160767	CASR	c.2556G>T (p.Arg852Ser) c.2817G>T (p.Arg939Ser) c.2787G>T (p.Arg929Ser) c.2304G>T (p.Arg768Ser) c.2199G>T (p.Arg733Ser)	gnomAD v4
3	g.122284742C>A	CA354160768	CASR	c.2557C>A (p.Gln853Lys) c.2818C>A (p.Gln940Lys) c.2788C>A (p.Gln930Lys) c.2305C>A (p.Gln769Lys) c.2200C>A (p.Gln734Lys)	gnomAD v4
3	g.122284742C=	CA1397872904	CASR	c.2557C= (p.Gln853=) c.2818C= (p.Gln940=) c.2788C= (p.Gln930=) c.2305C= (p.Gln769=) c.2200C= (p.Gln734=)
3	g.122284742C>G	CA354160769	CASR	c.2557C>G (p.Gln853Glu) c.2818C>G (p.Gln940Glu) c.2788C>G (p.Gln930Glu) c.2305C>G (p.Gln769Glu) c.2200C>G (p.Gln734Glu)	ClinVar dbSNP
3	g.122284742C>T	CA354160770	CASR	c.2557C>T (p.Gln853Ter) c.2818C>T (p.Gln940Ter) c.2788C>T (p.Gln930Ter) c.2305C>T (p.Gln769Ter) c.2200C>T (p.Gln734Ter)
3	g.122284743A>C	CA354160772	CASR	c.2558A>C (p.Gln853Pro) c.2819A>C (p.Gln940Pro) c.2789A>C (p.Gln930Pro) c.2306A>C (p.Gln769Pro) c.2201A>C (p.Gln734Pro)
3	g.122284743A>G	CA354160773	CASR	c.2558A>G (p.Gln853Arg) c.2819A>G (p.Gln940Arg) c.2789A>G (p.Gln930Arg) c.2306A>G (p.Gln769Arg) c.2201A>G (p.Gln734Arg)
3	g.122284743A>T	CA354160771	CASR	c.2558A>T (p.Gln853Leu) c.2819A>T (p.Gln940Leu) c.2789A>T (p.Gln930Leu) c.2306A>T (p.Gln769Leu) c.2201A>T (p.Gln734Leu)
3	g.122284744G>A	CA435425451	CASR	c.2559G>A (p.Gln853=) c.2820G>A (p.Gln940=) c.2790G>A (p.Gln930=) c.2307G>A (p.Gln769=) c.2202G>A (p.Gln734=)	ClinVar dbSNP
3	g.122284744G>C	CA354160775	CASR	c.2559G>C (p.Gln853His) c.2820G>C (p.Gln940His) c.2790G>C (p.Gln930His) c.2307G>C (p.Gln769His) c.2202G>C (p.Gln734His)
3	g.122284744G=	CA1397872906	CASR	c.2559G= (p.Gln853=) c.2820G= (p.Gln940=) c.2790G= (p.Gln930=) c.2307G= (p.Gln769=) c.2202G= (p.Gln734=)
3	g.122284744G>T	CA354160774	CASR	c.2559G>T (p.Gln853His) c.2820G>T (p.Gln940His) c.2790G>T (p.Gln930His) c.2307G>T (p.Gln769His) c.2202G>T (p.Gln734His)
3	g.122284745A=	CA1397872908	CASR	c.2560A= (p.Lys854=) c.2821A= (p.Lys941=) c.2791A= (p.Lys931=) c.2308A= (p.Lys770=) c.2203A= (p.Lys735=)
3	g.122284745A>C	CA2569866	CASR	c.2560A>C (p.Lys854Gln) c.2821A>C (p.Lys941Gln) c.2791A>C (p.Lys931Gln) c.2308A>C (p.Lys770Gln) c.2203A>C (p.Lys735Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284745A>G	CA354160776	CASR	c.2560A>G (p.Lys854Glu) c.2821A>G (p.Lys941Glu) c.2791A>G (p.Lys931Glu) c.2308A>G (p.Lys770Glu) c.2203A>G (p.Lys735Glu)
3	g.122284745A>T	CA354160777	CASR	c.2560A>T (p.Lys854Ter) c.2821A>T (p.Lys941Ter) c.2791A>T (p.Lys931Ter) c.2308A>T (p.Lys770Ter) c.2203A>T (p.Lys735Ter)
3	g.122284746A>C	CA354160778	CASR	c.2561A>C (p.Lys854Thr) c.2822A>C (p.Lys941Thr) c.2792A>C (p.Lys931Thr) c.2309A>C (p.Lys770Thr) c.2204A>C (p.Lys735Thr)
3	g.122284746A>G	CA354160779	CASR	c.2561A>G (p.Lys854Arg) c.2822A>G (p.Lys941Arg) c.2792A>G (p.Lys931Arg) c.2309A>G (p.Lys770Arg) c.2204A>G (p.Lys735Arg)	ClinVar
3	g.122284746A>T	CA354160780	CASR	c.2561A>T (p.Lys854Met) c.2822A>T (p.Lys941Met) c.2792A>T (p.Lys931Met) c.2309A>T (p.Lys770Met) c.2204A>T (p.Lys735Met)
3	g.122284752_122284757dup	CA2580616519	CASR	c.2567_2572dup (p.Gln857_Pro858insGlnGln) c.2828_2833dup (p.Gln944_Pro945insGlnGln) c.2798_2803dup (p.Gln934_Pro935insGlnGln) c.2315_2320dup (p.Gln773_Pro774insGlnGln) c.2210_2215dup (p.Gln738_Pro739insGlnGln)	ClinVar gnomAD v4
3	g.122284755_122284757del	CA2580616520	CASR	c.2570_2572del (p.Gln857del) c.2831_2833del (p.Gln944del) c.2801_2803del (p.Gln934del) c.2318_2320del (p.Gln773del) c.2213_2215del (p.Gln738del)	ClinVar gnomAD v4
3	g.122284758_122284790dup	CA1397872910	CASR	c.2573_2605dup (p.Gln868_Gln869insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) c.2834_2866dup (p.Gln955_Gln956insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) c.2804_2836dup (p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) c.2321_2353dup (p.Gln784_Gln785insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) c.2216_2248dup (p.Gln749_Gln750insProLeuAlaLeuThrGlnGlnGluGlnGlnGln)	ClinVar dbSNP gnomAD v4
3	g.122284755_122284832dup	CA2667224708	CASR	c.2570_2647dup (p.Gln882_Pro883insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2831_2908dup (p.Gln969_Pro970insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2801_2878dup (p.Gln959_Pro960insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2318_2395dup (p.Gln798_Pro799insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2213_2290dup (p.Gln763_Pro764insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln)	gnomAD v4
3	g.122284747G>A	CA435425455	CASR	c.2562G>A (p.Lys854=) c.2823G>A (p.Lys941=) c.2793G>A (p.Lys931=) c.2310G>A (p.Lys770=) c.2205G>A (p.Lys735=)	gnomAD v4
3	g.122284747G>C	CA354160781	CASR	c.2562G>C (p.Lys854Asn) c.2823G>C (p.Lys941Asn) c.2793G>C (p.Lys931Asn) c.2310G>C (p.Lys770Asn) c.2205G>C (p.Lys735Asn)
3	g.122284747G>T	CA354160782	CASR	c.2562G>T (p.Lys854Asn) c.2823G>T (p.Lys941Asn) c.2793G>T (p.Lys931Asn) c.2310G>T (p.Lys770Asn) c.2205G>T (p.Lys735Asn)
3	g.122284748C>A	CA354160783	CASR	c.2563C>A (p.Gln855Lys) c.2824C>A (p.Gln942Lys) c.2794C>A (p.Gln932Lys) c.2311C>A (p.Gln771Lys) c.2206C>A (p.Gln736Lys)
3	g.122284748C>G	CA354160784	CASR	c.2563C>G (p.Gln855Glu) c.2824C>G (p.Gln942Glu) c.2794C>G (p.Gln932Glu) c.2311C>G (p.Gln771Glu) c.2206C>G (p.Gln736Glu)	ClinVar dbSNP
3	g.122284748C>T	CA354160785	CASR	c.2563C>T (p.Gln855Ter) c.2824C>T (p.Gln942Ter) c.2794C>T (p.Gln932Ter) c.2311C>T (p.Gln771Ter) c.2206C>T (p.Gln736Ter)
3	g.122284749A>C	CA354160786	CASR	c.2564A>C (p.Gln855Pro) c.2825A>C (p.Gln942Pro) c.2795A>C (p.Gln932Pro) c.2312A>C (p.Gln771Pro) c.2207A>C (p.Gln736Pro)	ClinVar
3	g.122284749A>G	CA354160787	CASR	c.2564A>G (p.Gln855Arg) c.2825A>G (p.Gln942Arg) c.2795A>G (p.Gln932Arg) c.2312A>G (p.Gln771Arg) c.2207A>G (p.Gln736Arg)
3	g.122284749A>T	CA354160788	CASR	c.2564A>T (p.Gln855Leu) c.2825A>T (p.Gln942Leu) c.2795A>T (p.Gln932Leu) c.2312A>T (p.Gln771Leu) c.2207A>T (p.Gln736Leu)
3	g.122284750G>A	CA435425457	CASR	c.2565G>A (p.Gln855=) c.2826G>A (p.Gln942=) c.2796G>A (p.Gln932=) c.2313G>A (p.Gln771=) c.2208G>A (p.Gln736=)	ClinVar dbSNP
3	g.122284750G>C	CA354160789	CASR	c.2565G>C (p.Gln855His) c.2826G>C (p.Gln942His) c.2796G>C (p.Gln932His) c.2313G>C (p.Gln771His) c.2208G>C (p.Gln736His)
3	g.122284750G=	CA1397872911	CASR	c.2565G= (p.Gln855=) c.2826G= (p.Gln942=) c.2796G= (p.Gln932=) c.2313G= (p.Gln771=) c.2208G= (p.Gln736=)
3	g.122284750G>T	CA354160790	CASR	c.2565G>T (p.Gln855His) c.2826G>T (p.Gln942His) c.2796G>T (p.Gln932His) c.2313G>T (p.Gln771His) c.2208G>T (p.Gln736His)
3	g.122284751C>A	CA354160791	CASR	c.2566C>A (p.Gln856Lys) c.2827C>A (p.Gln943Lys) c.2797C>A (p.Gln933Lys) c.2314C>A (p.Gln772Lys) c.2209C>A (p.Gln737Lys)
3	g.122284751C>G	CA354160792	CASR	c.2566C>G (p.Gln856Glu) c.2827C>G (p.Gln943Glu) c.2797C>G (p.Gln933Glu) c.2314C>G (p.Gln772Glu) c.2209C>G (p.Gln737Glu)
3	g.122284751C>T	CA354160793	CASR	c.2566C>T (p.Gln856Ter) c.2827C>T (p.Gln943Ter) c.2797C>T (p.Gln933Ter) c.2314C>T (p.Gln772Ter) c.2209C>T (p.Gln737Ter)
3	g.122284752A>C	CA354160794	CASR	c.2567A>C (p.Gln856Pro) c.2828A>C (p.Gln943Pro) c.2798A>C (p.Gln933Pro) c.2315A>C (p.Gln772Pro) c.2210A>C (p.Gln737Pro)
3	g.122284752A>G	CA354160795	CASR	c.2567A>G (p.Gln856Arg) c.2828A>G (p.Gln943Arg) c.2798A>G (p.Gln933Arg) c.2315A>G (p.Gln772Arg) c.2210A>G (p.Gln737Arg)
3	g.122284752A>T	CA354160796	CASR	c.2567A>T (p.Gln856Leu) c.2828A>T (p.Gln943Leu) c.2798A>T (p.Gln933Leu) c.2315A>T (p.Gln772Leu) c.2210A>T (p.Gln737Leu)
3	g.122284753G>A	CA435425458	CASR	c.2568G>A (p.Gln856=) c.2829G>A (p.Gln943=) c.2799G>A (p.Gln933=) c.2316G>A (p.Gln772=) c.2211G>A (p.Gln737=)
3	g.122284753G>C	CA354160797	CASR	c.2568G>C (p.Gln856His) c.2829G>C (p.Gln943His) c.2799G>C (p.Gln933His) c.2316G>C (p.Gln772His) c.2211G>C (p.Gln737His)
3	g.122284753G>T	CA354160798	CASR	c.2568G>T (p.Gln856His) c.2829G>T (p.Gln943His) c.2799G>T (p.Gln933His) c.2316G>T (p.Gln772His) c.2211G>T (p.Gln737His)
3	g.122284754C>A	CA354160799	CASR	c.2569C>A (p.Gln857Lys) c.2830C>A (p.Gln944Lys) c.2800C>A (p.Gln934Lys) c.2317C>A (p.Gln773Lys) c.2212C>A (p.Gln738Lys)
3	g.122284754C>G	CA354160800	CASR	c.2569C>G (p.Gln857Glu) c.2830C>G (p.Gln944Glu) c.2800C>G (p.Gln934Glu) c.2317C>G (p.Gln773Glu) c.2212C>G (p.Gln738Glu)
3	g.122284754C>T	CA354160801	CASR	c.2569C>T (p.Gln857Ter) c.2830C>T (p.Gln944Ter) c.2800C>T (p.Gln934Ter) c.2317C>T (p.Gln773Ter) c.2212C>T (p.Gln738Ter)
3	g.122284755A>C	CA354160803	CASR	c.2570A>C (p.Gln857Pro) c.2831A>C (p.Gln944Pro) c.2801A>C (p.Gln934Pro) c.2318A>C (p.Gln773Pro) c.2213A>C (p.Gln738Pro)	ClinVar
3	g.122284755A>G	CA354160804	CASR	c.2570A>G (p.Gln857Arg) c.2831A>G (p.Gln944Arg) c.2801A>G (p.Gln934Arg) c.2318A>G (p.Gln773Arg) c.2213A>G (p.Gln738Arg)
3	g.122284755A>T	CA354160802	CASR	c.2570A>T (p.Gln857Leu) c.2831A>T (p.Gln944Leu) c.2801A>T (p.Gln934Leu) c.2318A>T (p.Gln773Leu) c.2213A>T (p.Gln738Leu)
3	g.122284756G>A	CA2569867	CASR	c.2571G>A (p.Gln857=) c.2832G>A (p.Gln944=) c.2802G>A (p.Gln934=) c.2319G>A (p.Gln773=) c.2214G>A (p.Gln738=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284756G>C	CA354160805	CASR	c.2571G>C (p.Gln857His) c.2832G>C (p.Gln944His) c.2802G>C (p.Gln934His) c.2319G>C (p.Gln773His) c.2214G>C (p.Gln738His)
3	g.122284756G=	CA1397872914	CASR	c.2571G= (p.Gln857=) c.2832G= (p.Gln944=) c.2802G= (p.Gln934=) c.2319G= (p.Gln773=) c.2214G= (p.Gln738=)
3	g.122284756G>T	CA354160806	CASR	c.2571G>T (p.Gln857His) c.2832G>T (p.Gln944His) c.2802G>T (p.Gln934His) c.2319G>T (p.Gln773His) c.2214G>T (p.Gln738His)
3	g.122284757C>A	CA82749257	CASR	c.2572C>A (p.Pro858Thr) c.2833C>A (p.Pro945Thr) c.2803C>A (p.Pro935Thr) c.2320C>A (p.Pro774Thr) c.2215C>A (p.Pro739Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284757C=	CA1397872916	CASR	c.2572C= (p.Pro858=) c.2833C= (p.Pro945=) c.2803C= (p.Pro935=) c.2320C= (p.Pro774=) c.2215C= (p.Pro739=)
3	g.122284757C>G	CA354160807	CASR	c.2572C>G (p.Pro858Ala) c.2833C>G (p.Pro945Ala) c.2803C>G (p.Pro935Ala) c.2320C>G (p.Pro774Ala) c.2215C>G (p.Pro739Ala)
3	g.122284757C>T	CA354160808	CASR	c.2572C>T (p.Pro858Ser) c.2833C>T (p.Pro945Ser) c.2803C>T (p.Pro935Ser) c.2320C>T (p.Pro774Ser) c.2215C>T (p.Pro739Ser)	ClinVar COSMIC
3	g.122284758C>A	CA354160810	CASR	c.2573C>A (p.Pro858Gln) c.2834C>A (p.Pro945Gln) c.2804C>A (p.Pro935Gln) c.2321C>A (p.Pro774Gln) c.2216C>A (p.Pro739Gln)	dbSNP gnomAD v2
3	g.122284758C=	CA1397872918	CASR	c.2573C= (p.Pro858=) c.2834C= (p.Pro945=) c.2804C= (p.Pro935=) c.2321C= (p.Pro774=) c.2216C= (p.Pro739=)
3	g.122284758C>G	CA354160809	CASR	c.2573C>G (p.Pro858Arg) c.2834C>G (p.Pro945Arg) c.2804C>G (p.Pro935Arg) c.2321C>G (p.Pro774Arg) c.2216C>G (p.Pro739Arg)
3	g.122284758C>T	CA82749263	CASR	c.2573C>T (p.Pro858Leu) c.2834C>T (p.Pro945Leu) c.2804C>T (p.Pro935Leu) c.2321C>T (p.Pro774Leu) c.2216C>T (p.Pro739Leu)	ClinVar dbSNP gnomAD v4 COSMIC
3	g.122284759G>A	CA435425465	CASR	c.2574G>A (p.Pro858=) c.2835G>A (p.Pro945=) c.2805G>A (p.Pro935=) c.2322G>A (p.Pro774=) c.2217G>A (p.Pro739=)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284759G>C	CA435425466	CASR	c.2574G>C (p.Pro858=) c.2835G>C (p.Pro945=) c.2805G>C (p.Pro935=) c.2322G>C (p.Pro774=) c.2217G>C (p.Pro739=)	ClinVar
3	g.122284759G=	CA1397872920	CASR	c.2574G= (p.Pro858=) c.2835G= (p.Pro945=) c.2805G= (p.Pro935=) c.2322G= (p.Pro774=) c.2217G= (p.Pro739=)
3	g.122284759G>T	CA435425467	CASR	c.2574G>T (p.Pro858=) c.2835G>T (p.Pro945=) c.2805G>T (p.Pro935=) c.2322G>T (p.Pro774=) c.2217G>T (p.Pro739=)	ClinVar gnomAD v4
3	g.122284760C>A	CA354160811	CASR	c.2575C>A (p.Leu859Met) c.2836C>A (p.Leu946Met) c.2806C>A (p.Leu936Met) c.2323C>A (p.Leu775Met) c.2218C>A (p.Leu740Met)
3	g.122284760C=	CA1397872922	CASR	c.2575C= (p.Leu859=) c.2836C= (p.Leu946=) c.2806C= (p.Leu936=) c.2323C= (p.Leu775=) c.2218C= (p.Leu740=)
3	g.122284760C>G	CA354160812	CASR	c.2575C>G (p.Leu859Val) c.2836C>G (p.Leu946Val) c.2806C>G (p.Leu936Val) c.2323C>G (p.Leu775Val) c.2218C>G (p.Leu740Val)
3	g.122284760C>T	CA435425468	CASR	c.2575C>T (p.Leu859=) c.2836C>T (p.Leu946=) c.2806C>T (p.Leu936=) c.2323C>T (p.Leu775=) c.2218C>T (p.Leu740=)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284761T>A	CA354160813	CASR	c.2576T>A (p.Leu859Gln) c.2837T>A (p.Leu946Gln) c.2807T>A (p.Leu936Gln) c.2324T>A (p.Leu775Gln) c.2219T>A (p.Leu740Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284761T>C	CA354160814	CASR	c.2576T>C (p.Leu859Pro) c.2837T>C (p.Leu946Pro) c.2807T>C (p.Leu936Pro) c.2324T>C (p.Leu775Pro) c.2219T>C (p.Leu740Pro)
3	g.122284761T>G	CA354160815	CASR	c.2576T>G (p.Leu859Arg) c.2837T>G (p.Leu946Arg) c.2807T>G (p.Leu936Arg) c.2324T>G (p.Leu775Arg) c.2219T>G (p.Leu740Arg)	dbSNP
3	g.122284761T=	CA1397872925	CASR	c.2576T= (p.Leu859=) c.2837T= (p.Leu946=) c.2807T= (p.Leu936=) c.2324T= (p.Leu775=) c.2219T= (p.Leu740=)
3	g.122284762G>A	CA435425473	CASR	c.2577G>A (p.Leu859=) c.2838G>A (p.Leu946=) c.2808G>A (p.Leu936=) c.2325G>A (p.Leu775=) c.2220G>A (p.Leu740=)
3	g.122284762G>C	CA435425471	CASR	c.2577G>C (p.Leu859=) c.2838G>C (p.Leu946=) c.2808G>C (p.Leu936=) c.2325G>C (p.Leu775=) c.2220G>C (p.Leu740=)
3	g.122284762G>T	CA435425472	CASR	c.2577G>T (p.Leu859=) c.2838G>T (p.Leu946=) c.2808G>T (p.Leu936=) c.2325G>T (p.Leu775=) c.2220G>T (p.Leu740=)
3	g.122284763G>A	CA354160816	CASR	c.2578G>A (p.Ala860Thr) c.2839G>A (p.Ala947Thr) c.2809G>A (p.Ala937Thr) c.2326G>A (p.Ala776Thr) c.2221G>A (p.Ala741Thr)
3	g.122284763G>C	CA354160818	CASR	c.2578G>C (p.Ala860Pro) c.2839G>C (p.Ala947Pro) c.2809G>C (p.Ala937Pro) c.2326G>C (p.Ala776Pro) c.2221G>C (p.Ala741Pro)
3	g.122284763G>T	CA354160817	CASR	c.2578G>T (p.Ala860Ser) c.2839G>T (p.Ala947Ser) c.2809G>T (p.Ala937Ser) c.2326G>T (p.Ala776Ser) c.2221G>T (p.Ala741Ser)
3	g.122284764C>A	CA354160819	CASR	c.2579C>A (p.Ala860Asp) c.2840C>A (p.Ala947Asp) c.2810C>A (p.Ala937Asp) c.2327C>A (p.Ala776Asp) c.2222C>A (p.Ala741Asp)
3	g.122284764C=	CA1397872928	CASR	c.2579C= (p.Ala860=) c.2840C= (p.Ala947=) c.2810C= (p.Ala937=) c.2327C= (p.Ala776=) c.2222C= (p.Ala741=)
3	g.122284764C>G	CA2569868	CASR	c.2579C>G (p.Ala860Gly) c.2840C>G (p.Ala947Gly) c.2810C>G (p.Ala937Gly) c.2327C>G (p.Ala776Gly) c.2222C>G (p.Ala741Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284764C>T	CA354160820	CASR	c.2579C>T (p.Ala860Val) c.2840C>T (p.Ala947Val) c.2810C>T (p.Ala937Val) c.2327C>T (p.Ala776Val) c.2222C>T (p.Ala741Val)	ClinVar dbSNP gnomAD v4
3	g.122284765C>A	CA435425475	CASR	c.2580C>A (p.Ala860=) c.2841C>A (p.Ala947=) c.2811C>A (p.Ala937=) c.2328C>A (p.Ala776=) c.2223C>A (p.Ala741=)
3	g.122284765C>G	CA435425476	CASR	c.2580C>G (p.Ala860=) c.2841C>G (p.Ala947=) c.2811C>G (p.Ala937=) c.2328C>G (p.Ala776=) c.2223C>G (p.Ala741=)	ClinVar
3	g.122284765C>T	CA435425477	CASR	c.2580C>T (p.Ala860=) c.2841C>T (p.Ala947=) c.2811C>T (p.Ala937=) c.2328C>T (p.Ala776=) c.2223C>T (p.Ala741=)	ClinVar
3	g.122284766C>A	CA354160821	CASR	c.2581C>A (p.Leu861Ile) c.2842C>A (p.Leu948Ile) c.2812C>A (p.Leu938Ile) c.2329C>A (p.Leu777Ile) c.2224C>A (p.Leu742Ile)	ClinVar dbSNP
3	g.122284766C=	CA1397872930	CASR	c.2581C= (p.Leu861=) c.2842C= (p.Leu948=) c.2812C= (p.Leu938=) c.2329C= (p.Leu777=) c.2224C= (p.Leu742=)
3	g.122284766C>G	CA354160822	CASR	c.2581C>G (p.Leu861Val) c.2842C>G (p.Leu948Val) c.2812C>G (p.Leu938Val) c.2329C>G (p.Leu777Val) c.2224C>G (p.Leu742Val)
3	g.122284766C>T	CA435425478	CASR	c.2581C>T (p.Leu861=) c.2842C>T (p.Leu948=) c.2812C>T (p.Leu938=) c.2329C>T (p.Leu777=) c.2224C>T (p.Leu742=)
3	g.122284767T>A	CA354160823	CASR	c.2582T>A (p.Leu861Gln) c.2843T>A (p.Leu948Gln) c.2813T>A (p.Leu938Gln) c.2330T>A (p.Leu777Gln) c.2225T>A (p.Leu742Gln)
3	g.122284767T>C	CA354160824	CASR	c.2582T>C (p.Leu861Pro) c.2843T>C (p.Leu948Pro) c.2813T>C (p.Leu938Pro) c.2330T>C (p.Leu777Pro) c.2225T>C (p.Leu742Pro)	dbSNP
3	g.122284767T>G	CA354160825	CASR	c.2582T>G (p.Leu861Arg) c.2843T>G (p.Leu948Arg) c.2813T>G (p.Leu938Arg) c.2330T>G (p.Leu777Arg) c.2225T>G (p.Leu742Arg)
3	g.122284767T=	CA1397872932	CASR	c.2582T= (p.Leu861=) c.2843T= (p.Leu948=) c.2813T= (p.Leu938=) c.2330T= (p.Leu777=) c.2225T= (p.Leu742=)
3	g.122284768A>C	CA435425483	CASR	c.2583A>C (p.Leu861=) c.2844A>C (p.Leu948=) c.2814A>C (p.Leu938=) c.2331A>C (p.Leu777=) c.2226A>C (p.Leu742=)	ClinVar dbSNP
3	g.122284768A>G	CA435425482	CASR	c.2583A>G (p.Leu861=) c.2844A>G (p.Leu948=) c.2814A>G (p.Leu938=) c.2331A>G (p.Leu777=) c.2226A>G (p.Leu742=)
3	g.122284768A>T	CA435425484	CASR	c.2583A>T (p.Leu861=) c.2844A>T (p.Leu948=) c.2814A>T (p.Leu938=) c.2331A>T (p.Leu777=) c.2226A>T (p.Leu742=)
3	g.122284769A>C	CA354160826	CASR	c.2584A>C (p.Thr862Pro) c.2845A>C (p.Thr949Pro) c.2815A>C (p.Thr939Pro) c.2332A>C (p.Thr778Pro) c.2227A>C (p.Thr743Pro)
3	g.122284769A>G	CA354160827	CASR	c.2584A>G (p.Thr862Ala) c.2845A>G (p.Thr949Ala) c.2815A>G (p.Thr939Ala) c.2332A>G (p.Thr778Ala) c.2227A>G (p.Thr743Ala)
3	g.122284769A>T	CA354160828	CASR	c.2584A>T (p.Thr862Ser) c.2845A>T (p.Thr949Ser) c.2815A>T (p.Thr939Ser) c.2332A>T (p.Thr778Ser) c.2227A>T (p.Thr743Ser)
3	g.122284770C>A	CA354160831	CASR	c.2585C>A (p.Thr862Asn) c.2846C>A (p.Thr949Asn) c.2816C>A (p.Thr939Asn) c.2333C>A (p.Thr778Asn) c.2228C>A (p.Thr743Asn)
3	g.122284770C>G	CA354160830	CASR	c.2585C>G (p.Thr862Ser) c.2846C>G (p.Thr949Ser) c.2816C>G (p.Thr939Ser) c.2333C>G (p.Thr778Ser) c.2228C>G (p.Thr743Ser)
3	g.122284770C>T	CA354160829	CASR	c.2585C>T (p.Thr862Ile) c.2846C>T (p.Thr949Ile) c.2816C>T (p.Thr939Ile) c.2333C>T (p.Thr778Ile) c.2228C>T (p.Thr743Ile)
3	g.122284771C>A	CA435425488	CASR	c.2586C>A (p.Thr862=) c.2847C>A (p.Thr949=) c.2817C>A (p.Thr939=) c.2334C>A (p.Thr778=) c.2229C>A (p.Thr743=)
3	g.122284771C=	CA1397872933	CASR	c.2586C= (p.Thr862=) c.2847C= (p.Thr949=) c.2817C= (p.Thr939=) c.2334C= (p.Thr778=) c.2229C= (p.Thr743=)
3	g.122284771C>G	CA435425489	CASR	c.2586C>G (p.Thr862=) c.2847C>G (p.Thr949=) c.2817C>G (p.Thr939=) c.2334C>G (p.Thr778=) c.2229C>G (p.Thr743=)	ClinVar gnomAD v4
3	g.122284771C>T	CA435425490	CASR	c.2586C>T (p.Thr862=) c.2847C>T (p.Thr949=) c.2817C>T (p.Thr939=) c.2334C>T (p.Thr778=) c.2229C>T (p.Thr743=)	ClinVar dbSNP
3	g.122284772C>A	CA354160832	CASR	c.2587C>A (p.Gln863Lys) c.2848C>A (p.Gln950Lys) c.2818C>A (p.Gln940Lys) c.2335C>A (p.Gln779Lys) c.2230C>A (p.Gln744Lys)	ClinVar dbSNP COSMIC
3	g.122284772C=	CA1397872935	CASR	c.2587C= (p.Gln863=) c.2848C= (p.Gln950=) c.2818C= (p.Gln940=) c.2335C= (p.Gln779=) c.2230C= (p.Gln744=)
3	g.122284772C>G	CA354160834	CASR	c.2587C>G (p.Gln863Glu) c.2848C>G (p.Gln950Glu) c.2818C>G (p.Gln940Glu) c.2335C>G (p.Gln779Glu) c.2230C>G (p.Gln744Glu)
3	g.122284772C>T	CA354160833	CASR	c.2587C>T (p.Gln863Ter) c.2848C>T (p.Gln950Ter) c.2818C>T (p.Gln940Ter) c.2335C>T (p.Gln779Ter) c.2230C>T (p.Gln744Ter)	ClinVar dbSNP

Number of alleles fetched