Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
3	g.122284448T>A	CA354160073	CASR	c.2263T>A (p.Phe755Ile) c.2524T>A (p.Phe842Ile) c.2494T>A (p.Phe832Ile) c.2011T>A (p.Phe671Ile) c.1906T>A (p.Phe636Ile)
3	g.122284448T>C	CA354160074	CASR	c.2263T>C (p.Phe755Leu) c.2524T>C (p.Phe842Leu) c.2494T>C (p.Phe832Leu) c.2011T>C (p.Phe671Leu) c.1906T>C (p.Phe636Leu)
3	g.122284448T>G	CA354160075	CASR	c.2263T>G (p.Phe755Val) c.2524T>G (p.Phe842Val) c.2494T>G (p.Phe832Val) c.2011T>G (p.Phe671Val) c.1906T>G (p.Phe636Val)
3	g.122284449T>A	CA354160078	CASR	c.2264T>A (p.Phe755Tyr) c.2525T>A (p.Phe842Tyr) c.2495T>A (p.Phe832Tyr) c.2012T>A (p.Phe671Tyr) c.1907T>A (p.Phe636Tyr)
3	g.122284449T>C	CA354160076	CASR	c.2264T>C (p.Phe755Ser) c.2525T>C (p.Phe842Ser) c.2495T>C (p.Phe832Ser) c.2012T>C (p.Phe671Ser) c.1907T>C (p.Phe636Ser)	ClinVar dbSNP
3	g.122284449T>G	CA354160077	CASR	c.2264T>G (p.Phe755Cys) c.2525T>G (p.Phe842Cys) c.2495T>G (p.Phe832Cys) c.2012T>G (p.Phe671Cys) c.1907T>G (p.Phe636Cys)
3	g.122284450T>A	CA354160079	CASR	c.2265T>A (p.Phe755Leu) c.2526T>A (p.Phe842Leu) c.2496T>A (p.Phe832Leu) c.2013T>A (p.Phe671Leu) c.1908T>A (p.Phe636Leu)
3	g.122284450T>C	CA435425245	CASR	c.2265T>C (p.Phe755=) c.2526T>C (p.Phe842=) c.2496T>C (p.Phe832=) c.2013T>C (p.Phe671=) c.1908T>C (p.Phe636=)	ClinVar dbSNP gnomAD v4
3	g.122284450T>G	CA354160080	CASR	c.2265T>G (p.Phe755Leu) c.2526T>G (p.Phe842Leu) c.2496T>G (p.Phe832Leu) c.2013T>G (p.Phe671Leu) c.1908T>G (p.Phe636Leu)
3	g.122284450T=	CA1397872402	CASR	c.2265T= (p.Phe755=) c.2526T= (p.Phe842=) c.2496T= (p.Phe832=) c.2013T= (p.Phe671=) c.1908T= (p.Phe636=)
3	g.122284451G>A	CA354160081	CASR	c.2266G>A (p.Val756Ile) c.2527G>A (p.Val843Ile) c.2497G>A (p.Val833Ile) c.2014G>A (p.Val672Ile) c.1909G>A (p.Val637Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284451G>C	CA354160082	CASR	c.2266G>C (p.Val756Leu) c.2527G>C (p.Val843Leu) c.2497G>C (p.Val833Leu) c.2014G>C (p.Val672Leu) c.1909G>C (p.Val637Leu)	ClinVar dbSNP
3	g.122284451G=	CA1397872404	CASR	c.2266G= (p.Val756=) c.2527G= (p.Val843=) c.2497G= (p.Val833=) c.2014G= (p.Val672=) c.1909G= (p.Val637=)
3	g.122284451G>T	CA354160083	CASR	c.2266G>T (p.Val756Phe) c.2527G>T (p.Val843Phe) c.2497G>T (p.Val833Phe) c.2014G>T (p.Val672Phe) c.1909G>T (p.Val637Phe)
3	g.122284452T>A	CA354160084	CASR	c.2267T>A (p.Val756Asp) c.2528T>A (p.Val843Asp) c.2498T>A (p.Val833Asp) c.2015T>A (p.Val672Asp) c.1910T>A (p.Val637Asp)
3	g.122284452T>C	CA354160085	CASR	c.2267T>C (p.Val756Ala) c.2528T>C (p.Val843Ala) c.2498T>C (p.Val833Ala) c.2015T>C (p.Val672Ala) c.1910T>C (p.Val637Ala)
3	g.122284452T>G	CA354160086	CASR	c.2267T>G (p.Val756Gly) c.2528T>G (p.Val843Gly) c.2498T>G (p.Val833Gly) c.2015T>G (p.Val672Gly) c.1910T>G (p.Val637Gly)
3	g.122284453C>A	CA435425251	CASR	c.2268C>A (p.Val756=) c.2529C>A (p.Val843=) c.2499C>A (p.Val833=) c.2016C>A (p.Val672=) c.1911C>A (p.Val637=)
3	g.122284453C=	CA1397872408	CASR	c.2268C= (p.Val756=) c.2529C= (p.Val843=) c.2499C= (p.Val833=) c.2016C= (p.Val672=) c.1911C= (p.Val637=)
3	g.122284453C>G	CA435425252	CASR	c.2268C>G (p.Val756=) c.2529C>G (p.Val843=) c.2499C>G (p.Val833=) c.2016C>G (p.Val672=) c.1911C>G (p.Val637=)	ClinVar dbSNP
3	g.122284453C>T	CA435425253	CASR	c.2268C>T (p.Val756=) c.2529C>T (p.Val843=) c.2499C>T (p.Val833=) c.2016C>T (p.Val672=) c.1911C>T (p.Val637=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284454T>A	CA354160087	CASR	c.2269T>A (p.Ser757Thr) c.2530T>A (p.Ser844Thr) c.2500T>A (p.Ser834Thr) c.2017T>A (p.Ser673Thr) c.1912T>A (p.Ser638Thr)
3	g.122284454T>C	CA354160088	CASR	c.2269T>C (p.Ser757Pro) c.2530T>C (p.Ser844Pro) c.2500T>C (p.Ser834Pro) c.2017T>C (p.Ser673Pro) c.1912T>C (p.Ser638Pro)
3	g.122284454T>G	CA354160089	CASR	c.2269T>G (p.Ser757Ala) c.2530T>G (p.Ser844Ala) c.2500T>G (p.Ser834Ala) c.2017T>G (p.Ser673Ala) c.1912T>G (p.Ser638Ala)
3	g.122284455del	CA2586972871	CASR	c.2270del (p.Ser757LeufsTer3) c.2531del (p.Ser844LeufsTer3) c.2501del (p.Ser834LeufsTer3) c.2018del (p.Ser673LeufsTer3) c.1913del (p.Ser638LeufsTer3)
3	g.122284455C>A	CA354160091	CASR	c.2270C>A (p.Ser757Tyr) c.2531C>A (p.Ser844Tyr) c.2501C>A (p.Ser834Tyr) c.2018C>A (p.Ser673Tyr) c.1913C>A (p.Ser638Tyr)
3	g.122284455C=	CA1397872413	CASR	c.2270C= (p.Ser757=) c.2531C= (p.Ser844=) c.2501C= (p.Ser834=) c.2018C= (p.Ser673=) c.1913C= (p.Ser638=)
3	g.122284455C>G	CA354160092	CASR	c.2270C>G (p.Ser757Cys) c.2531C>G (p.Ser844Cys) c.2501C>G (p.Ser834Cys) c.2018C>G (p.Ser673Cys) c.1913C>G (p.Ser638Cys)
3	g.122284455C>T	CA354160090	CASR	c.2270C>T (p.Ser757Phe) c.2531C>T (p.Ser844Phe) c.2501C>T (p.Ser834Phe) c.2018C>T (p.Ser673Phe) c.1913C>T (p.Ser638Phe)	ClinVar dbSNP
3	g.122284456T>A	CA435425260	CASR	c.2271T>A (p.Ser757=) c.2532T>A (p.Ser844=) c.2502T>A (p.Ser834=) c.2019T>A (p.Ser673=) c.1914T>A (p.Ser638=)
3	g.122284456T>C	CA435425262	CASR	c.2271T>C (p.Ser757=) c.2532T>C (p.Ser844=) c.2502T>C (p.Ser834=) c.2019T>C (p.Ser673=) c.1914T>C (p.Ser638=)
3	g.122284456T>G	CA435425263	CASR	c.2271T>G (p.Ser757=) c.2532T>G (p.Ser844=) c.2502T>G (p.Ser834=) c.2019T>G (p.Ser673=) c.1914T>G (p.Ser638=)
3	g.122284457G>A	CA354160093	CASR	c.2272G>A (p.Ala758Thr) c.2533G>A (p.Ala845Thr) c.2503G>A (p.Ala835Thr) c.2020G>A (p.Ala674Thr) c.1915G>A (p.Ala639Thr)	ClinVar dbSNP
3	g.122284457G>C	CA354160094	CASR	c.2272G>C (p.Ala758Pro) c.2533G>C (p.Ala845Pro) c.2503G>C (p.Ala835Pro) c.2020G>C (p.Ala674Pro) c.1915G>C (p.Ala639Pro)	ClinVar dbSNP
3	g.122284457G=	CA1397872417	CASR	c.2272G= (p.Ala758=) c.2533G= (p.Ala845=) c.2503G= (p.Ala835=) c.2020G= (p.Ala674=) c.1915G= (p.Ala639=)
3	g.122284457G>T	CA354160095	CASR	c.2272G>T (p.Ala758Ser) c.2533G>T (p.Ala845Ser) c.2503G>T (p.Ala835Ser) c.2020G>T (p.Ala674Ser) c.1915G>T (p.Ala639Ser)
3	g.122284458C>A	CA354160096	CASR	c.2273C>A (p.Ala758Asp) c.2534C>A (p.Ala845Asp) c.2504C>A (p.Ala835Asp) c.2021C>A (p.Ala674Asp) c.1916C>A (p.Ala639Asp)
3	g.122284458C>G	CA354160097	CASR	c.2273C>G (p.Ala758Gly) c.2534C>G (p.Ala845Gly) c.2504C>G (p.Ala835Gly) c.2021C>G (p.Ala674Gly) c.1916C>G (p.Ala639Gly)
3	g.122284458C>T	CA354160098	CASR	c.2273C>T (p.Ala758Val) c.2534C>T (p.Ala845Val) c.2504C>T (p.Ala835Val) c.2021C>T (p.Ala674Val) c.1916C>T (p.Ala639Val)
3	g.122284459C>A	CA435425271	CASR	c.2274C>A (p.Ala758=) c.2535C>A (p.Ala845=) c.2505C>A (p.Ala835=) c.2022C>A (p.Ala674=) c.1917C>A (p.Ala639=)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284459C=	CA1397872423	CASR	c.2274C= (p.Ala758=) c.2535C= (p.Ala845=) c.2505C= (p.Ala835=) c.2022C= (p.Ala674=) c.1917C= (p.Ala639=)
3	g.122284459C>G	CA435425273	CASR	c.2274C>G (p.Ala758=) c.2535C>G (p.Ala845=) c.2505C>G (p.Ala835=) c.2022C>G (p.Ala674=) c.1917C>G (p.Ala639=)	dbSNP gnomAD v3 gnomAD v4
3	g.122284459C>T	CA435425275	CASR	c.2274C>T (p.Ala758=) c.2535C>T (p.Ala845=) c.2505C>T (p.Ala835=) c.2022C>T (p.Ala674=) c.1917C>T (p.Ala639=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284460G>A	CA354160099	CASR	c.2275G>A (p.Val759Ile) c.2536G>A (p.Val846Ile) c.2506G>A (p.Val836Ile) c.2023G>A (p.Val675Ile) c.1918G>A (p.Val640Ile)	ClinVar dbSNP COSMIC
3	g.122284460G>C	CA354160100	CASR	c.2275G>C (p.Val759Leu) c.2536G>C (p.Val846Leu) c.2506G>C (p.Val836Leu) c.2023G>C (p.Val675Leu) c.1918G>C (p.Val640Leu)	ClinVar dbSNP
3	g.122284460G>T	CA354160101	CASR	c.2275G>T (p.Val759Leu) c.2536G>T (p.Val846Leu) c.2506G>T (p.Val836Leu) c.2023G>T (p.Val675Leu) c.1918G>T (p.Val640Leu)	ClinVar dbSNP
3	g.122284461T>A	CA354160102	CASR	c.2276T>A (p.Val759Glu) c.2537T>A (p.Val846Glu) c.2507T>A (p.Val836Glu) c.2024T>A (p.Val675Glu) c.1919T>A (p.Val640Glu)
3	g.122284461T>C	CA354160103	CASR	c.2276T>C (p.Val759Ala) c.2537T>C (p.Val846Ala) c.2507T>C (p.Val836Ala) c.2024T>C (p.Val675Ala) c.1919T>C (p.Val640Ala)
3	g.122284461T>G	CA354160104	CASR	c.2276T>G (p.Val759Gly) c.2537T>G (p.Val846Gly) c.2507T>G (p.Val836Gly) c.2024T>G (p.Val675Gly) c.1919T>G (p.Val640Gly)
3	g.122284462A>C	CA435425280	CASR	c.2277A>C (p.Val759=) c.2538A>C (p.Val846=) c.2508A>C (p.Val836=) c.2025A>C (p.Val675=) c.1920A>C (p.Val640=)
3	g.122284462A>G	CA435425281	CASR	c.2277A>G (p.Val759=) c.2538A>G (p.Val846=) c.2508A>G (p.Val836=) c.2025A>G (p.Val675=) c.1920A>G (p.Val640=)	ClinVar dbSNP
3	g.122284462A>T	CA435425282	CASR	c.2277A>T (p.Val759=) c.2538A>T (p.Val846=) c.2508A>T (p.Val836=) c.2025A>T (p.Val675=) c.1920A>T (p.Val640=)
3	g.122284463G>A	CA354160106	CASR	c.2278G>A (p.Glu760Lys) c.2539G>A (p.Glu847Lys) c.2509G>A (p.Glu837Lys) c.2026G>A (p.Glu676Lys) c.1921G>A (p.Glu641Lys)	ClinVar
3	g.122284463G>C	CA354160107	CASR	c.2278G>C (p.Glu760Gln) c.2539G>C (p.Glu847Gln) c.2509G>C (p.Glu837Gln) c.2026G>C (p.Glu676Gln) c.1921G>C (p.Glu641Gln)
3	g.122284463G>T	CA354160105	CASR	c.2278G>T (p.Glu760Ter) c.2539G>T (p.Glu847Ter) c.2509G>T (p.Glu837Ter) c.2026G>T (p.Glu676Ter) c.1921G>T (p.Glu641Ter)	gnomAD v4
3	g.122284464A>C	CA354160108	CASR	c.2279A>C (p.Glu760Ala) c.2540A>C (p.Glu847Ala) c.2510A>C (p.Glu837Ala) c.2027A>C (p.Glu676Ala) c.1922A>C (p.Glu641Ala)
3	g.122284464A>G	CA354160109	CASR	c.2279A>G (p.Glu760Gly) c.2540A>G (p.Glu847Gly) c.2510A>G (p.Glu837Gly) c.2027A>G (p.Glu676Gly) c.1922A>G (p.Glu641Gly)
3	g.122284464A>T	CA354160110	CASR	c.2279A>T (p.Glu760Val) c.2540A>T (p.Glu847Val) c.2510A>T (p.Glu837Val) c.2027A>T (p.Glu676Val) c.1922A>T (p.Glu641Val)
3	g.122284465G>A	CA435425285	CASR	c.2280G>A (p.Glu760=) c.2541G>A (p.Glu847=) c.2511G>A (p.Glu837=) c.2028G>A (p.Glu676=) c.1923G>A (p.Glu641=)	ClinVar dbSNP gnomAD v4
3	g.122284465G>C	CA354160111	CASR	c.2280G>C (p.Glu760Asp) c.2541G>C (p.Glu847Asp) c.2511G>C (p.Glu837Asp) c.2028G>C (p.Glu676Asp) c.1923G>C (p.Glu641Asp)
3	g.122284465G>T	CA354160112	CASR	c.2280G>T (p.Glu760Asp) c.2541G>T (p.Glu847Asp) c.2511G>T (p.Glu837Asp) c.2028G>T (p.Glu676Asp) c.1923G>T (p.Glu641Asp)	ClinVar
3	g.122284466G>A	CA354160115	CASR	c.2281G>A (p.Val761Met) c.2542G>A (p.Val848Met) c.2512G>A (p.Val838Met) c.2029G>A (p.Val677Met) c.1924G>A (p.Val642Met)
3	g.122284466G>C	CA354160114	CASR	c.2281G>C (p.Val761Leu) c.2542G>C (p.Val848Leu) c.2512G>C (p.Val838Leu) c.2029G>C (p.Val677Leu) c.1924G>C (p.Val642Leu)
3	g.122284466G>T	CA354160113	CASR	c.2281G>T (p.Val761Leu) c.2542G>T (p.Val848Leu) c.2512G>T (p.Val838Leu) c.2029G>T (p.Val677Leu) c.1924G>T (p.Val642Leu)
3	g.122284467T>A	CA354160116	CASR	c.2282T>A (p.Val761Glu) c.2543T>A (p.Val848Glu) c.2513T>A (p.Val838Glu) c.2030T>A (p.Val677Glu) c.1925T>A (p.Val642Glu)
3	g.122284467T>C	CA354160117	CASR	c.2282T>C (p.Val761Ala) c.2543T>C (p.Val848Ala) c.2513T>C (p.Val838Ala) c.2030T>C (p.Val677Ala) c.1925T>C (p.Val642Ala)	ClinVar
3	g.122284467T>G	CA354160119	CASR	c.2282T>G (p.Val761Gly) c.2543T>G (p.Val848Gly) c.2513T>G (p.Val838Gly) c.2030T>G (p.Val677Gly) c.1925T>G (p.Val642Gly)
3	g.122284468G>A	CA435425292	CASR	c.2283G>A (p.Val761=) c.2544G>A (p.Val848=) c.2514G>A (p.Val838=) c.2031G>A (p.Val677=) c.1926G>A (p.Val642=)	ClinVar dbSNP
3	g.122284468G>C	CA435425293	CASR	c.2283G>C (p.Val761=) c.2544G>C (p.Val848=) c.2514G>C (p.Val838=) c.2031G>C (p.Val677=) c.1926G>C (p.Val642=)
3	g.122284468G=	CA1397872425	CASR	c.2283G= (p.Val761=) c.2544G= (p.Val848=) c.2514G= (p.Val838=) c.2031G= (p.Val677=) c.1926G= (p.Val642=)
3	g.122284468G>T	CA435425294	CASR	c.2283G>T (p.Val761=) c.2544G>T (p.Val848=) c.2514G>T (p.Val838=) c.2031G>T (p.Val677=) c.1926G>T (p.Val642=)
3	g.122284469A>C	CA354160121	CASR	c.2284A>C (p.Ile762Leu) c.2545A>C (p.Ile849Leu) c.2515A>C (p.Ile839Leu) c.2032A>C (p.Ile678Leu) c.1927A>C (p.Ile643Leu)
3	g.122284469A>G	CA354160123	CASR	c.2284A>G (p.Ile762Val) c.2545A>G (p.Ile849Val) c.2515A>G (p.Ile839Val) c.2032A>G (p.Ile678Val) c.1927A>G (p.Ile643Val)
3	g.122284469A>T	CA354160125	CASR	c.2284A>T (p.Ile762Phe) c.2545A>T (p.Ile849Phe) c.2515A>T (p.Ile839Phe) c.2032A>T (p.Ile678Phe) c.1927A>T (p.Ile643Phe)
3	g.122284470T>A	CA354160132	CASR	c.2285T>A (p.Ile762Asn) c.2546T>A (p.Ile849Asn) c.2516T>A (p.Ile839Asn) c.2033T>A (p.Ile678Asn) c.1928T>A (p.Ile643Asn)	ClinVar dbSNP
3	g.122284470T>C	CA354160129	CASR	c.2285T>C (p.Ile762Thr) c.2546T>C (p.Ile849Thr) c.2516T>C (p.Ile839Thr) c.2033T>C (p.Ile678Thr) c.1928T>C (p.Ile643Thr)	ClinVar dbSNP
3	g.122284470T>G	CA354160128	CASR	c.2285T>G (p.Ile762Ser) c.2546T>G (p.Ile849Ser) c.2516T>G (p.Ile839Ser) c.2033T>G (p.Ile678Ser) c.1928T>G (p.Ile643Ser)
3	g.122284471T>A	CA435425300	CASR	c.2286T>A (p.Ile762=) c.2547T>A (p.Ile849=) c.2517T>A (p.Ile839=) c.2034T>A (p.Ile678=) c.1929T>A (p.Ile643=)
3	g.122284471T>C	CA435425301	CASR	c.2286T>C (p.Ile762=) c.2547T>C (p.Ile849=) c.2517T>C (p.Ile839=) c.2034T>C (p.Ile678=) c.1929T>C (p.Ile643=)
3	g.122284471T>G	CA354160133	CASR	c.2286T>G (p.Ile762Met) c.2547T>G (p.Ile849Met) c.2517T>G (p.Ile839Met) c.2034T>G (p.Ile678Met) c.1929T>G (p.Ile643Met)
3	g.122284472del	CA2740094575	CASR	c.2287del (p.Ala763ProfsTer?) c.2548del (p.Ala850ProfsTer?) c.2518del (p.Ala840ProfsTer?) c.2035del (p.Ala679ProfsTer?) c.1930del (p.Ala644ProfsTer?)	ClinVar
3	g.122284472G>A	CA354160137	CASR	c.2287G>A (p.Ala763Thr) c.2548G>A (p.Ala850Thr) c.2518G>A (p.Ala840Thr) c.2035G>A (p.Ala679Thr) c.1930G>A (p.Ala644Thr)
3	g.122284472G>C	CA354160135	CASR	c.2287G>C (p.Ala763Pro) c.2548G>C (p.Ala850Pro) c.2518G>C (p.Ala840Pro) c.2035G>C (p.Ala679Pro) c.1930G>C (p.Ala644Pro)
3	g.122284472G>T	CA354160139	CASR	c.2287G>T (p.Ala763Ser) c.2548G>T (p.Ala850Ser) c.2518G>T (p.Ala840Ser) c.2035G>T (p.Ala679Ser) c.1930G>T (p.Ala644Ser)
3	g.122284473C>A	CA354160141	CASR	c.2288C>A (p.Ala763Asp) c.2549C>A (p.Ala850Asp) c.2519C>A (p.Ala840Asp) c.2036C>A (p.Ala679Asp) c.1931C>A (p.Ala644Asp)
3	g.122284473C=	CA1397872429	CASR	c.2288C= (p.Ala763=) c.2549C= (p.Ala850=) c.2519C= (p.Ala840=) c.2036C= (p.Ala679=) c.1931C= (p.Ala644=)
3	g.122284473C>G	CA354160145	CASR	c.2288C>G (p.Ala763Gly) c.2549C>G (p.Ala850Gly) c.2519C>G (p.Ala840Gly) c.2036C>G (p.Ala679Gly) c.1931C>G (p.Ala644Gly)
3	g.122284473C>T	CA354160143	CASR	c.2288C>T (p.Ala763Val) c.2549C>T (p.Ala850Val) c.2519C>T (p.Ala840Val) c.2036C>T (p.Ala679Val) c.1931C>T (p.Ala644Val)	ClinVar dbSNP gnomAD v4
3	g.122284474C>A	CA435425306	CASR	c.2289C>A (p.Ala763=) c.2550C>A (p.Ala850=) c.2520C>A (p.Ala840=) c.2037C>A (p.Ala679=) c.1932C>A (p.Ala644=)	gnomAD v4
3	g.122284474C>G	CA435425307	CASR	c.2289C>G (p.Ala763=) c.2550C>G (p.Ala850=) c.2520C>G (p.Ala840=) c.2037C>G (p.Ala679=) c.1932C>G (p.Ala644=)
3	g.122284474C>T	CA435425308	CASR	c.2289C>T (p.Ala763=) c.2550C>T (p.Ala850=) c.2520C>T (p.Ala840=) c.2037C>T (p.Ala679=) c.1932C>T (p.Ala644=)
3	g.122284475A=	CA1397872434	CASR	c.2290A= (p.Ile764=) c.2551A= (p.Ile851=) c.2521A= (p.Ile841=) c.2038A= (p.Ile680=) c.1933A= (p.Ile645=)
3	g.122284475A>C	CA354160146	CASR	c.2290A>C (p.Ile764Leu) c.2551A>C (p.Ile851Leu) c.2521A>C (p.Ile841Leu) c.2038A>C (p.Ile680Leu) c.1933A>C (p.Ile645Leu)
3	g.122284475A>G	CA354160150	CASR	c.2290A>G (p.Ile764Val) c.2551A>G (p.Ile851Val) c.2521A>G (p.Ile841Val) c.2038A>G (p.Ile680Val) c.1933A>G (p.Ile645Val)
3	g.122284475A>T	CA354160148	CASR	c.2290A>T (p.Ile764Phe) c.2551A>T (p.Ile851Phe) c.2521A>T (p.Ile841Phe) c.2038A>T (p.Ile680Phe) c.1933A>T (p.Ile645Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284476T>A	CA354160152	CASR	c.2291T>A (p.Ile764Asn) c.2552T>A (p.Ile851Asn) c.2522T>A (p.Ile841Asn) c.2039T>A (p.Ile680Asn) c.1934T>A (p.Ile645Asn)
3	g.122284476T>C	CA354160155	CASR	c.2291T>C (p.Ile764Thr) c.2552T>C (p.Ile851Thr) c.2522T>C (p.Ile841Thr) c.2039T>C (p.Ile680Thr) c.1934T>C (p.Ile645Thr)
3	g.122284476T>G	CA354160153	CASR	c.2291T>G (p.Ile764Ser) c.2552T>G (p.Ile851Ser) c.2522T>G (p.Ile841Ser) c.2039T>G (p.Ile680Ser) c.1934T>G (p.Ile645Ser)
3	g.122284477C>A	CA435425311	CASR	c.2292C>A (p.Ile764=) c.2553C>A (p.Ile851=) c.2523C>A (p.Ile841=) c.2040C>A (p.Ile680=) c.1935C>A (p.Ile645=)
3	g.122284477C>G	CA354160157	CASR	c.2292C>G (p.Ile764Met) c.2553C>G (p.Ile851Met) c.2523C>G (p.Ile841Met) c.2040C>G (p.Ile680Met) c.1935C>G (p.Ile645Met)
3	g.122284477C>T	CA435425312	CASR	c.2292C>T (p.Ile764=) c.2553C>T (p.Ile851=) c.2523C>T (p.Ile841=) c.2040C>T (p.Ile680=) c.1935C>T (p.Ile645=)
3	g.122284478C>A	CA82749017	CASR	c.2293C>A (p.Leu765Met) c.2554C>A (p.Leu852Met) c.2524C>A (p.Leu842Met) c.2041C>A (p.Leu681Met) c.1936C>A (p.Leu646Met)	ClinVar dbSNP
3	g.122284478C=	CA1397872437	CASR	c.2293C= (p.Leu765=) c.2554C= (p.Leu852=) c.2524C= (p.Leu842=) c.2041C= (p.Leu681=) c.1936C= (p.Leu646=)
3	g.122284478C>G	CA354160160	CASR	c.2293C>G (p.Leu765Val) c.2554C>G (p.Leu852Val) c.2524C>G (p.Leu842Val) c.2041C>G (p.Leu681Val) c.1936C>G (p.Leu646Val)
3	g.122284478C>T	CA435425313	CASR	c.2293C>T (p.Leu765=) c.2554C>T (p.Leu852=) c.2524C>T (p.Leu842=) c.2041C>T (p.Leu681=) c.1936C>T (p.Leu646=)
3	g.122284479T>A	CA354160163	CASR	c.2294T>A (p.Leu765Gln) c.2555T>A (p.Leu852Gln) c.2525T>A (p.Leu842Gln) c.2042T>A (p.Leu681Gln) c.1937T>A (p.Leu646Gln)
3	g.122284479T>C	CA354160164	CASR	c.2294T>C (p.Leu765Pro) c.2555T>C (p.Leu852Pro) c.2525T>C (p.Leu842Pro) c.2042T>C (p.Leu681Pro) c.1937T>C (p.Leu646Pro)	ClinVar
3	g.122284479T>G	CA354160165	CASR	c.2294T>G (p.Leu765Arg) c.2555T>G (p.Leu852Arg) c.2525T>G (p.Leu842Arg) c.2042T>G (p.Leu681Arg) c.1937T>G (p.Leu646Arg)
3	g.122284480G>A	CA435425316	CASR	c.2295G>A (p.Leu765=) c.2556G>A (p.Leu852=) c.2526G>A (p.Leu842=) c.2043G>A (p.Leu681=) c.1938G>A (p.Leu646=)	ClinVar dbSNP
3	g.122284480G>C	CA435425317	CASR	c.2295G>C (p.Leu765=) c.2556G>C (p.Leu852=) c.2526G>C (p.Leu842=) c.2043G>C (p.Leu681=) c.1938G>C (p.Leu646=)
3	g.122284480G=	CA1397872440	CASR	c.2295G= (p.Leu765=) c.2556G= (p.Leu852=) c.2526G= (p.Leu842=) c.2043G= (p.Leu681=) c.1938G= (p.Leu646=)
3	g.122284480G>T	CA435425318	CASR	c.2295G>T (p.Leu765=) c.2556G>T (p.Leu852=) c.2526G>T (p.Leu842=) c.2043G>T (p.Leu681=) c.1938G>T (p.Leu646=)	ClinVar
3	g.122284481G>A	CA354160168	CASR	c.2296G>A (p.Ala766Thr) c.2557G>A (p.Ala853Thr) c.2527G>A (p.Ala843Thr) c.2044G>A (p.Ala682Thr) c.1939G>A (p.Ala647Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284481G>C	CA354160170	CASR	c.2296G>C (p.Ala766Pro) c.2557G>C (p.Ala853Pro) c.2527G>C (p.Ala843Pro) c.2044G>C (p.Ala682Pro) c.1939G>C (p.Ala647Pro)	gnomAD v4
3	g.122284481G=	CA1397872443	CASR	c.2296G= (p.Ala766=) c.2557G= (p.Ala853=) c.2527G= (p.Ala843=) c.2044G= (p.Ala682=) c.1939G= (p.Ala647=)
3	g.122284481G>T	CA354160171	CASR	c.2296G>T (p.Ala766Ser) c.2557G>T (p.Ala853Ser) c.2527G>T (p.Ala843Ser) c.2044G>T (p.Ala682Ser) c.1939G>T (p.Ala647Ser)	dbSNP
3	g.122284482C>A	CA119519	CASR	c.2297C>A (p.Ala766Glu) c.2558C>A (p.Ala853Glu) c.2528C>A (p.Ala843Glu) c.2045C>A (p.Ala682Glu) c.1940C>A (p.Ala647Glu)	ClinVar dbSNP
3	g.122284482C=	CA1397872446	CASR	c.2297C= (p.Ala766=) c.2558C= (p.Ala853=) c.2528C= (p.Ala843=) c.2045C= (p.Ala682=) c.1940C= (p.Ala647=)
3	g.122284482C>G	CA354160174	CASR	c.2297C>G (p.Ala766Gly) c.2558C>G (p.Ala853Gly) c.2528C>G (p.Ala843Gly) c.2045C>G (p.Ala682Gly) c.1940C>G (p.Ala647Gly)
3	g.122284482C>T	CA354160176	CASR	c.2297C>T (p.Ala766Val) c.2558C>T (p.Ala853Val) c.2528C>T (p.Ala843Val) c.2045C>T (p.Ala682Val) c.1940C>T (p.Ala647Val)
3	g.122284483A>C	CA435425319	CASR	c.2298A>C (p.Ala766=) c.2559A>C (p.Ala853=) c.2529A>C (p.Ala843=) c.2046A>C (p.Ala682=) c.1941A>C (p.Ala647=)
3	g.122284483A>G	CA435425320	CASR	c.2298A>G (p.Ala766=) c.2559A>G (p.Ala853=) c.2529A>G (p.Ala843=) c.2046A>G (p.Ala682=) c.1941A>G (p.Ala647=)
3	g.122284483A>T	CA435425321	CASR	c.2298A>T (p.Ala766=) c.2559A>T (p.Ala853=) c.2529A>T (p.Ala843=) c.2046A>T (p.Ala682=) c.1941A>T (p.Ala647=)
3	g.122284484G>A	CA354160179	CASR	c.2299G>A (p.Ala767Thr) c.2560G>A (p.Ala854Thr) c.2530G>A (p.Ala844Thr) c.2047G>A (p.Ala683Thr) c.1942G>A (p.Ala648Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284484G>C	CA354160182	CASR	c.2299G>C (p.Ala767Pro) c.2560G>C (p.Ala854Pro) c.2530G>C (p.Ala844Pro) c.2047G>C (p.Ala683Pro) c.1942G>C (p.Ala648Pro)
3	g.122284484G=	CA1397872452	CASR	c.2299G= (p.Ala767=) c.2560G= (p.Ala854=) c.2530G= (p.Ala844=) c.2047G= (p.Ala683=) c.1942G= (p.Ala648=)
3	g.122284484G>T	CA354160181	CASR	c.2299G>T (p.Ala767Ser) c.2560G>T (p.Ala854Ser) c.2530G>T (p.Ala844Ser) c.2047G>T (p.Ala683Ser) c.1942G>T (p.Ala648Ser)
3	g.122284484_122284504del	CA2667224655	CASR	c.2299_2319del (p.Ala767_Ala773del) c.2560_2580del (p.Ala854_Ala860del) c.2530_2550del (p.Ala844_Ala850del) c.2047_2067del (p.Ala683_Ala689del) c.1942_1962del (p.Ala648_Ala654del)	gnomAD v4
3	g.122284485C>A	CA354160185	CASR	c.2300C>A (p.Ala767Asp) c.2561C>A (p.Ala854Asp) c.2531C>A (p.Ala844Asp) c.2048C>A (p.Ala683Asp) c.1943C>A (p.Ala648Asp)
3	g.122284485C=	CA1397872454	CASR	c.2300C= (p.Ala767=) c.2561C= (p.Ala854=) c.2531C= (p.Ala844=) c.2048C= (p.Ala683=) c.1943C= (p.Ala648=)
3	g.122284485C>G	CA354160186	CASR	c.2300C>G (p.Ala767Gly) c.2561C>G (p.Ala854Gly) c.2531C>G (p.Ala844Gly) c.2048C>G (p.Ala683Gly) c.1943C>G (p.Ala648Gly)
3	g.122284485C>T	CA354160187	CASR	c.2300C>T (p.Ala767Val) c.2561C>T (p.Ala854Val) c.2531C>T (p.Ala844Val) c.2048C>T (p.Ala683Val) c.1943C>T (p.Ala648Val)	ClinVar dbSNP
3	g.122284486C>A	CA435425322	CASR	c.2301C>A (p.Ala767=) c.2562C>A (p.Ala854=) c.2532C>A (p.Ala844=) c.2049C>A (p.Ala683=) c.1944C>A (p.Ala648=)
3	g.122284486C>G	CA435425323	CASR	c.2301C>G (p.Ala767=) c.2562C>G (p.Ala854=) c.2532C>G (p.Ala844=) c.2049C>G (p.Ala683=) c.1944C>G (p.Ala648=)
3	g.122284486C>T	CA435425324	CASR	c.2301C>T (p.Ala767=) c.2562C>T (p.Ala854=) c.2532C>T (p.Ala844=) c.2049C>T (p.Ala683=) c.1944C>T (p.Ala648=)
3	g.122284487_122284499del	CA2573136466	CASR	c.2302_2314del (p.Ser768TrpfsTer?) c.2563_2575del (p.Ser855TrpfsTer?) c.2533_2545del (p.Ser845TrpfsTer?) c.2050_2062del (p.Ser684TrpfsTer?) c.1945_1957del (p.Ser649TrpfsTer?)	ClinVar dbSNP
3	g.122284487A=	CA1397872459	CASR	c.2302A= (p.Ser768=) c.2563A= (p.Ser855=) c.2533A= (p.Ser845=) c.2050A= (p.Ser684=) c.1945A= (p.Ser649=)
3	g.122284487A>C	CA354160190	CASR	c.2302A>C (p.Ser768Arg) c.2563A>C (p.Ser855Arg) c.2533A>C (p.Ser845Arg) c.2050A>C (p.Ser684Arg) c.1945A>C (p.Ser649Arg)	ClinVar dbSNP
3	g.122284487A>G	CA354160191	CASR	c.2302A>G (p.Ser768Gly) c.2563A>G (p.Ser855Gly) c.2533A>G (p.Ser845Gly) c.2050A>G (p.Ser684Gly) c.1945A>G (p.Ser649Gly)
3	g.122284487A>T	CA354160192	CASR	c.2302A>T (p.Ser768Cys) c.2563A>T (p.Ser855Cys) c.2533A>T (p.Ser845Cys) c.2050A>T (p.Ser684Cys) c.1945A>T (p.Ser649Cys)
3	g.122284488G>A	CA354160195	CASR	c.2303G>A (p.Ser768Asn) c.2564G>A (p.Ser855Asn) c.2534G>A (p.Ser845Asn) c.2051G>A (p.Ser684Asn) c.1946G>A (p.Ser649Asn)	ClinVar
3	g.122284488G>C	CA354160197	CASR	c.2303G>C (p.Ser768Thr) c.2564G>C (p.Ser855Thr) c.2534G>C (p.Ser845Thr) c.2051G>C (p.Ser684Thr) c.1946G>C (p.Ser649Thr)
3	g.122284488G>T	CA354160198	CASR	c.2303G>T (p.Ser768Ile) c.2564G>T (p.Ser855Ile) c.2534G>T (p.Ser845Ile) c.2051G>T (p.Ser684Ile) c.1946G>T (p.Ser649Ile)
3	g.122284489C>A	CA354160204	CASR	c.2304C>A (p.Ser768Arg) c.2565C>A (p.Ser855Arg) c.2535C>A (p.Ser845Arg) c.2052C>A (p.Ser684Arg) c.1947C>A (p.Ser649Arg)
3	g.122284489C=	CA1397872463	CASR	c.2304C= (p.Ser768=) c.2565C= (p.Ser855=) c.2535C= (p.Ser845=) c.2052C= (p.Ser684=) c.1947C= (p.Ser649=)
3	g.122284489C>G	CA354160201	CASR	c.2304C>G (p.Ser768Arg) c.2565C>G (p.Ser855Arg) c.2535C>G (p.Ser845Arg) c.2052C>G (p.Ser684Arg) c.1947C>G (p.Ser649Arg)
3	g.122284489C>T	CA2569830	CASR	c.2304C>T (p.Ser768=) c.2565C>T (p.Ser855=) c.2535C>T (p.Ser845=) c.2052C>T (p.Ser684=) c.1947C>T (p.Ser649=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284490T>A	CA354160206	CASR	c.2305T>A (p.Phe769Ile) c.2566T>A (p.Phe856Ile) c.2536T>A (p.Phe846Ile) c.2053T>A (p.Phe685Ile) c.1948T>A (p.Phe650Ile)
3	g.122284490T>C	CA354160208	CASR	c.2305T>C (p.Phe769Leu) c.2566T>C (p.Phe856Leu) c.2536T>C (p.Phe846Leu) c.2053T>C (p.Phe685Leu) c.1948T>C (p.Phe650Leu)
3	g.122284490T>G	CA354160210	CASR	c.2305T>G (p.Phe769Val) c.2566T>G (p.Phe856Val) c.2536T>G (p.Phe846Val) c.2053T>G (p.Phe685Val) c.1948T>G (p.Phe650Val)
3	g.122284491T>A	CA354160212	CASR	c.2306T>A (p.Phe769Tyr) c.2567T>A (p.Phe856Tyr) c.2537T>A (p.Phe846Tyr) c.2054T>A (p.Phe685Tyr) c.1949T>A (p.Phe650Tyr)
3	g.122284491T>C	CA354160213	CASR	c.2306T>C (p.Phe769Ser) c.2567T>C (p.Phe856Ser) c.2537T>C (p.Phe846Ser) c.2054T>C (p.Phe685Ser) c.1949T>C (p.Phe650Ser)	gnomAD v4
3	g.122284491T>G	CA354160215	CASR	c.2306T>G (p.Phe769Cys) c.2567T>G (p.Phe856Cys) c.2537T>G (p.Phe846Cys) c.2054T>G (p.Phe685Cys) c.1949T>G (p.Phe650Cys)
3	g.122284492T>A	CA354160217	CASR	c.2307T>A (p.Phe769Leu) c.2568T>A (p.Phe856Leu) c.2538T>A (p.Phe846Leu) c.2055T>A (p.Phe685Leu) c.1950T>A (p.Phe650Leu)
3	g.122284492T>C	CA435425325	CASR	c.2307T>C (p.Phe769=) c.2568T>C (p.Phe856=) c.2538T>C (p.Phe846=) c.2055T>C (p.Phe685=) c.1950T>C (p.Phe650=)
3	g.122284492T>G	CA354160218	CASR	c.2307T>G (p.Phe769Leu) c.2568T>G (p.Phe856Leu) c.2538T>G (p.Phe846Leu) c.2055T>G (p.Phe685Leu) c.1950T>G (p.Phe650Leu)
3	g.122284493G>A	CA354160221	CASR	c.2308G>A (p.Gly770Ser) c.2569G>A (p.Gly857Ser) c.2539G>A (p.Gly847Ser) c.2056G>A (p.Gly686Ser) c.1951G>A (p.Gly651Ser)	ClinVar
3	g.122284493G>C	CA354160222	CASR	c.2308G>C (p.Gly770Arg) c.2569G>C (p.Gly857Arg) c.2539G>C (p.Gly847Arg) c.2056G>C (p.Gly686Arg) c.1951G>C (p.Gly651Arg)
3	g.122284493G>T	CA354160225	CASR	c.2308G>T (p.Gly770Cys) c.2569G>T (p.Gly857Cys) c.2539G>T (p.Gly847Cys) c.2056G>T (p.Gly686Cys) c.1951G>T (p.Gly651Cys)	gnomAD v4
3	g.122284494G>A	CA16617819	CASR	c.2309G>A (p.Gly770Asp) c.2570G>A (p.Gly857Asp) c.2540G>A (p.Gly847Asp) c.2057G>A (p.Gly686Asp) c.1952G>A (p.Gly651Asp)	ClinVar dbSNP
3	g.122284494G>C	CA354160229	CASR	c.2309G>C (p.Gly770Ala) c.2570G>C (p.Gly857Ala) c.2540G>C (p.Gly847Ala) c.2057G>C (p.Gly686Ala) c.1952G>C (p.Gly651Ala)
3	g.122284494G=	CA1397872467	CASR	c.2309G= (p.Gly770=) c.2570G= (p.Gly857=) c.2540G= (p.Gly847=) c.2057G= (p.Gly686=) c.1952G= (p.Gly651=)
3	g.122284494G>T	CA354160227	CASR	c.2309G>T (p.Gly770Val) c.2570G>T (p.Gly857Val) c.2540G>T (p.Gly847Val) c.2057G>T (p.Gly686Val) c.1952G>T (p.Gly651Val)
3	g.122284495C>A	CA435425326	CASR	c.2310C>A (p.Gly770=) c.2571C>A (p.Gly857=) c.2541C>A (p.Gly847=) c.2058C>A (p.Gly686=) c.1953C>A (p.Gly651=)
3	g.122284495C>G	CA435425328	CASR	c.2310C>G (p.Gly770=) c.2571C>G (p.Gly857=) c.2541C>G (p.Gly847=) c.2058C>G (p.Gly686=) c.1953C>G (p.Gly651=)
3	g.122284495C>T	CA435425327	CASR	c.2310C>T (p.Gly770=) c.2571C>T (p.Gly857=) c.2541C>T (p.Gly847=) c.2058C>T (p.Gly686=) c.1953C>T (p.Gly651=)
3	g.122284496T>A	CA354160232	CASR	c.2311T>A (p.Leu771Met) c.2572T>A (p.Leu858Met) c.2542T>A (p.Leu848Met) c.2059T>A (p.Leu687Met) c.1954T>A (p.Leu652Met)
3	g.122284496T>C	CA435425329	CASR	c.2311T>C (p.Leu771=) c.2572T>C (p.Leu858=) c.2542T>C (p.Leu848=) c.2059T>C (p.Leu687=) c.1954T>C (p.Leu652=)
3	g.122284496T>G	CA354160234	CASR	c.2311T>G (p.Leu771Val) c.2572T>G (p.Leu858Val) c.2542T>G (p.Leu848Val) c.2059T>G (p.Leu687Val) c.1954T>G (p.Leu652Val)
3	g.122284497T>A	CA354160236	CASR	c.2312T>A (p.Leu771Ter) c.2573T>A (p.Leu858Ter) c.2543T>A (p.Leu848Ter) c.2060T>A (p.Leu687Ter) c.1955T>A (p.Leu652Ter)
3	g.122284497T>C	CA354160237	CASR	c.2312T>C (p.Leu771Ser) c.2573T>C (p.Leu858Ser) c.2543T>C (p.Leu848Ser) c.2060T>C (p.Leu687Ser) c.1955T>C (p.Leu652Ser)
3	g.122284497T>G	CA354160238	CASR	c.2312T>G (p.Leu771Trp) c.2573T>G (p.Leu858Trp) c.2543T>G (p.Leu848Trp) c.2060T>G (p.Leu687Trp) c.1955T>G (p.Leu652Trp)
3	g.122284498G>A	CA435425330	CASR	c.2313G>A (p.Leu771=) c.2574G>A (p.Leu858=) c.2544G>A (p.Leu848=) c.2061G>A (p.Leu687=) c.1956G>A (p.Leu652=)
3	g.122284498G>C	CA354160240	CASR	c.2313G>C (p.Leu771Phe) c.2574G>C (p.Leu858Phe) c.2544G>C (p.Leu848Phe) c.2061G>C (p.Leu687Phe) c.1956G>C (p.Leu652Phe)
3	g.122284498G>T	CA354160242	CASR	c.2313G>T (p.Leu771Phe) c.2574G>T (p.Leu858Phe) c.2544G>T (p.Leu848Phe) c.2061G>T (p.Leu687Phe) c.1956G>T (p.Leu652Phe)
3	g.122284499C>A	CA354160244	CASR	c.2314C>A (p.Leu772Met) c.2575C>A (p.Leu859Met) c.2545C>A (p.Leu849Met) c.2062C>A (p.Leu688Met) c.1957C>A (p.Leu653Met)
3	g.122284499C>G	CA354160246	CASR	c.2314C>G (p.Leu772Val) c.2575C>G (p.Leu859Val) c.2545C>G (p.Leu849Val) c.2062C>G (p.Leu688Val) c.1957C>G (p.Leu653Val)	ClinVar
3	g.122284499C>T	CA435425331	CASR	c.2314C>T (p.Leu772=) c.2575C>T (p.Leu859=) c.2545C>T (p.Leu849=) c.2062C>T (p.Leu688=) c.1957C>T (p.Leu653=)	ClinVar
3	g.122284500T>A	CA354160248	CASR	c.2315T>A (p.Leu772Gln) c.2576T>A (p.Leu859Gln) c.2546T>A (p.Leu849Gln) c.2063T>A (p.Leu688Gln) c.1958T>A (p.Leu653Gln)	ClinVar gnomAD v4
3	g.122284500T>C	CA354160250	CASR	c.2315T>C (p.Leu772Pro) c.2576T>C (p.Leu859Pro) c.2546T>C (p.Leu849Pro) c.2063T>C (p.Leu688Pro) c.1958T>C (p.Leu653Pro)	ClinVar dbSNP
3	g.122284500T>G	CA354160251	CASR	c.2315T>G (p.Leu772Arg) c.2576T>G (p.Leu859Arg) c.2546T>G (p.Leu849Arg) c.2063T>G (p.Leu688Arg) c.1958T>G (p.Leu653Arg)
3	g.122284500T=	CA1397872472	CASR	c.2315T= (p.Leu772=) c.2576T= (p.Leu859=) c.2546T= (p.Leu849=) c.2063T= (p.Leu688=) c.1958T= (p.Leu653=)
3	g.122284501G>A	CA435425332	CASR	c.2316G>A (p.Leu772=) c.2577G>A (p.Leu859=) c.2547G>A (p.Leu849=) c.2064G>A (p.Leu688=) c.1959G>A (p.Leu653=)
3	g.122284501G>C	CA435425333	CASR	c.2316G>C (p.Leu772=) c.2577G>C (p.Leu859=) c.2547G>C (p.Leu849=) c.2064G>C (p.Leu688=) c.1959G>C (p.Leu653=)
3	g.122284501G>T	CA435425334	CASR	c.2316G>T (p.Leu772=) c.2577G>T (p.Leu859=) c.2547G>T (p.Leu849=) c.2064G>T (p.Leu688=) c.1959G>T (p.Leu653=)
3	g.122284502G>A	CA354160258	CASR	c.2317G>A (p.Ala773Thr) c.2578G>A (p.Ala860Thr) c.2548G>A (p.Ala850Thr) c.2065G>A (p.Ala689Thr) c.1960G>A (p.Ala654Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284502G>C	CA354160256	CASR	c.2317G>C (p.Ala773Pro) c.2578G>C (p.Ala860Pro) c.2548G>C (p.Ala850Pro) c.2065G>C (p.Ala689Pro) c.1960G>C (p.Ala654Pro)
3	g.122284502G=	CA1397872480	CASR	c.2317G= (p.Ala773=) c.2578G= (p.Ala860=) c.2548G= (p.Ala850=) c.2065G= (p.Ala689=) c.1960G= (p.Ala654=)
3	g.122284502G>T	CA354160254	CASR	c.2317G>T (p.Ala773Ser) c.2578G>T (p.Ala860Ser) c.2548G>T (p.Ala850Ser) c.2065G>T (p.Ala689Ser) c.1960G>T (p.Ala654Ser)
3	g.122284503C>A	CA2569831	CASR	c.2318C>A (p.Ala773Glu) c.2579C>A (p.Ala860Glu) c.2549C>A (p.Ala850Glu) c.2066C>A (p.Ala689Glu) c.1961C>A (p.Ala654Glu)	ClinVar dbSNP ExAC gnomAD v2
3	g.122284503C=	CA1397872492	CASR	c.2318C= (p.Ala773=) c.2579C= (p.Ala860=) c.2549C= (p.Ala850=) c.2066C= (p.Ala689=) c.1961C= (p.Ala654=)
3	g.122284503C>G	CA354160262	CASR	c.2318C>G (p.Ala773Gly) c.2579C>G (p.Ala860Gly) c.2549C>G (p.Ala850Gly) c.2066C>G (p.Ala689Gly) c.1961C>G (p.Ala654Gly)	ClinVar dbSNP gnomAD v4
3	g.122284503C>T	CA354160261	CASR	c.2318C>T (p.Ala773Val) c.2579C>T (p.Ala860Val) c.2549C>T (p.Ala850Val) c.2066C>T (p.Ala689Val) c.1961C>T (p.Ala654Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122284504G>A	CA82749034	CASR	c.2319G>A (p.Ala773=) c.2580G>A (p.Ala860=) c.2550G>A (p.Ala850=) c.2067G>A (p.Ala689=) c.1962G>A (p.Ala654=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284504G>C	CA435425336	CASR	c.2319G>C (p.Ala773=) c.2580G>C (p.Ala860=) c.2550G>C (p.Ala850=) c.2067G>C (p.Ala689=) c.1962G>C (p.Ala654=)
3	g.122284504G=	CA1397872498	CASR	c.2319G= (p.Ala773=) c.2580G= (p.Ala860=) c.2550G= (p.Ala850=) c.2067G= (p.Ala689=) c.1962G= (p.Ala654=)
3	g.122284504G>T	CA435425335	CASR	c.2319G>T (p.Ala773=) c.2580G>T (p.Ala860=) c.2550G>T (p.Ala850=) c.2067G>T (p.Ala689=) c.1962G>T (p.Ala654=)	ClinVar dbSNP gnomAD v4
3	g.122284504_122284505insCCAG	CA2586972872	CASR	c.2319_2320insCCAG (p.Cys774ProfsTer?) c.2580_2581insCCAG (p.Cys861ProfsTer?) c.2550_2551insCCAG (p.Cys851ProfsTer?) c.2067_2068insCCAG (p.Cys690ProfsTer?) c.1962_1963insCCAG (p.Cys655ProfsTer?)
3	g.122284505T>A	CA2569832	CASR	c.2320T>A (p.Cys774Ser) c.2581T>A (p.Cys861Ser) c.2551T>A (p.Cys851Ser) c.2068T>A (p.Cys690Ser) c.1963T>A (p.Cys655Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284505T>C	CA354160265	CASR	c.2320T>C (p.Cys774Arg) c.2581T>C (p.Cys861Arg) c.2551T>C (p.Cys851Arg) c.2068T>C (p.Cys690Arg) c.1963T>C (p.Cys655Arg)
3	g.122284505T>G	CA354160266	CASR	c.2320T>G (p.Cys774Gly) c.2581T>G (p.Cys861Gly) c.2551T>G (p.Cys851Gly) c.2068T>G (p.Cys690Gly) c.1963T>G (p.Cys655Gly)	COSMIC
3	g.122284505T=	CA1397872505	CASR	c.2320T= (p.Cys774=) c.2581T= (p.Cys861=) c.2551T= (p.Cys851=) c.2068T= (p.Cys690=) c.1963T= (p.Cys655=)
3	g.122284506G>A	CA354160267	CASR	c.2321G>A (p.Cys774Tyr) c.2582G>A (p.Cys861Tyr) c.2552G>A (p.Cys851Tyr) c.2069G>A (p.Cys690Tyr) c.1964G>A (p.Cys655Tyr)
3	g.122284506G>C	CA354160268	CASR	c.2321G>C (p.Cys774Ser) c.2582G>C (p.Cys861Ser) c.2552G>C (p.Cys851Ser) c.2069G>C (p.Cys690Ser) c.1964G>C (p.Cys655Ser)	ClinVar dbSNP
3	g.122284506G>T	CA354160269	CASR	c.2321G>T (p.Cys774Phe) c.2582G>T (p.Cys861Phe) c.2552G>T (p.Cys851Phe) c.2069G>T (p.Cys690Phe) c.1964G>T (p.Cys655Phe)
3	g.122284507C>A	CA354160270	CASR	c.2322C>A (p.Cys774Ter) c.2583C>A (p.Cys861Ter) c.2553C>A (p.Cys851Ter) c.2070C>A (p.Cys690Ter) c.1965C>A (p.Cys655Ter)
3	g.122284507C>G	CA354160271	CASR	c.2322C>G (p.Cys774Trp) c.2583C>G (p.Cys861Trp) c.2553C>G (p.Cys851Trp) c.2070C>G (p.Cys690Trp) c.1965C>G (p.Cys655Trp)	ClinVar
3	g.122284507C>T	CA435425337	CASR	c.2322C>T (p.Cys774=) c.2583C>T (p.Cys861=) c.2553C>T (p.Cys851=) c.2070C>T (p.Cys690=) c.1965C>T (p.Cys655=)
3	g.122284508A>C	CA354160272	CASR	c.2323A>C (p.Ile775Leu) c.2584A>C (p.Ile862Leu) c.2554A>C (p.Ile852Leu) c.2071A>C (p.Ile691Leu) c.1966A>C (p.Ile656Leu)	gnomAD v4
3	g.122284508A>G	CA354160273	CASR	c.2323A>G (p.Ile775Val) c.2584A>G (p.Ile862Val) c.2554A>G (p.Ile852Val) c.2071A>G (p.Ile691Val) c.1966A>G (p.Ile656Val)
3	g.122284508A>T	CA354160274	CASR	c.2323A>T (p.Ile775Phe) c.2584A>T (p.Ile862Phe) c.2554A>T (p.Ile852Phe) c.2071A>T (p.Ile691Phe) c.1966A>T (p.Ile656Phe)
3	g.122284509T>A	CA354160275	CASR	c.2324T>A (p.Ile775Asn) c.2585T>A (p.Ile862Asn) c.2555T>A (p.Ile852Asn) c.2072T>A (p.Ile691Asn) c.1967T>A (p.Ile656Asn)
3	g.122284509T>C	CA354160277	CASR	c.2324T>C (p.Ile775Thr) c.2585T>C (p.Ile862Thr) c.2555T>C (p.Ile852Thr) c.2072T>C (p.Ile691Thr) c.1967T>C (p.Ile656Thr)
3	g.122284509T>G	CA354160276	CASR	c.2324T>G (p.Ile775Ser) c.2585T>G (p.Ile862Ser) c.2555T>G (p.Ile852Ser) c.2072T>G (p.Ile691Ser) c.1967T>G (p.Ile656Ser)
3	g.122284510C>A	CA435425338	CASR	c.2325C>A (p.Ile775=) c.2586C>A (p.Ile862=) c.2556C>A (p.Ile852=) c.2073C>A (p.Ile691=) c.1968C>A (p.Ile656=)
3	g.122284510C=	CA1397872509	CASR	c.2325C= (p.Ile775=) c.2586C= (p.Ile862=) c.2556C= (p.Ile852=) c.2073C= (p.Ile691=) c.1968C= (p.Ile656=)
3	g.122284510C>G	CA354160278	CASR	c.2325C>G (p.Ile775Met) c.2586C>G (p.Ile862Met) c.2556C>G (p.Ile852Met) c.2073C>G (p.Ile691Met) c.1968C>G (p.Ile656Met)
3	g.122284510C>T	CA435425339	CASR	c.2325C>T (p.Ile775=) c.2586C>T (p.Ile862=) c.2556C>T (p.Ile852=) c.2073C>T (p.Ile691=) c.1968C>T (p.Ile656=)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284511T>A	CA354160279	CASR	c.2326T>A (p.Phe776Ile) c.2587T>A (p.Phe863Ile) c.2557T>A (p.Phe853Ile) c.2074T>A (p.Phe692Ile) c.1969T>A (p.Phe657Ile)
3	g.122284511T>C	CA354160280	CASR	c.2326T>C (p.Phe776Leu) c.2587T>C (p.Phe863Leu) c.2557T>C (p.Phe853Leu) c.2074T>C (p.Phe692Leu) c.1969T>C (p.Phe657Leu)
3	g.122284511T>G	CA354160281	CASR	c.2326T>G (p.Phe776Val) c.2587T>G (p.Phe863Val) c.2557T>G (p.Phe853Val) c.2074T>G (p.Phe692Val) c.1969T>G (p.Phe657Val)	ClinVar dbSNP
3	g.122284511T=	CA1397872514	CASR	c.2326T= (p.Phe776=) c.2587T= (p.Phe863=) c.2557T= (p.Phe853=) c.2074T= (p.Phe692=) c.1969T= (p.Phe657=)
3	g.122284512T>A	CA354160282	CASR	c.2327T>A (p.Phe776Tyr) c.2588T>A (p.Phe863Tyr) c.2558T>A (p.Phe853Tyr) c.2075T>A (p.Phe692Tyr) c.1970T>A (p.Phe657Tyr)
3	g.122284512T>C	CA354160283	CASR	c.2327T>C (p.Phe776Ser) c.2588T>C (p.Phe863Ser) c.2558T>C (p.Phe853Ser) c.2075T>C (p.Phe692Ser) c.1970T>C (p.Phe657Ser)
3	g.122284512T>G	CA354160284	CASR	c.2327T>G (p.Phe776Cys) c.2588T>G (p.Phe863Cys) c.2558T>G (p.Phe853Cys) c.2075T>G (p.Phe692Cys) c.1970T>G (p.Phe657Cys)
3	g.122284513C>A	CA354160285	CASR	c.2328C>A (p.Phe776Leu) c.2589C>A (p.Phe863Leu) c.2559C>A (p.Phe853Leu) c.2076C>A (p.Phe692Leu) c.1971C>A (p.Phe657Leu)
3	g.122284513C=	CA1397872521	CASR	c.2328C= (p.Phe776=) c.2589C= (p.Phe863=) c.2559C= (p.Phe853=) c.2076C= (p.Phe692=) c.1971C= (p.Phe657=)
3	g.122284513C>G	CA354160286	CASR	c.2328C>G (p.Phe776Leu) c.2589C>G (p.Phe863Leu) c.2559C>G (p.Phe853Leu) c.2076C>G (p.Phe692Leu) c.1971C>G (p.Phe657Leu)	ClinVar dbSNP
3	g.122284513C>T	CA435425340	CASR	c.2328C>T (p.Phe776=) c.2589C>T (p.Phe863=) c.2559C>T (p.Phe853=) c.2076C>T (p.Phe692=) c.1971C>T (p.Phe657=)
3	g.122284514T>A	CA354160288	CASR	c.2329T>A (p.Phe777Ile) c.2590T>A (p.Phe864Ile) c.2560T>A (p.Phe854Ile) c.2077T>A (p.Phe693Ile) c.1972T>A (p.Phe658Ile)	ClinVar dbSNP gnomAD v4
3	g.122284514T>C	CA82749042	CASR	c.2329T>C (p.Phe777Leu) c.2590T>C (p.Phe864Leu) c.2560T>C (p.Phe854Leu) c.2077T>C (p.Phe693Leu) c.1972T>C (p.Phe658Leu)	dbSNP gnomAD v4
3	g.122284514T>G	CA354160287	CASR	c.2329T>G (p.Phe777Val) c.2590T>G (p.Phe864Val) c.2560T>G (p.Phe854Val) c.2077T>G (p.Phe693Val) c.1972T>G (p.Phe658Val)	gnomAD v4
3	g.122284514T=	CA1397872530	CASR	c.2329T= (p.Phe777=) c.2590T= (p.Phe864=) c.2560T= (p.Phe854=) c.2077T= (p.Phe693=) c.1972T= (p.Phe658=)
3	g.122284515T>A	CA354160289	CASR	c.2330T>A (p.Phe777Tyr) c.2591T>A (p.Phe864Tyr) c.2561T>A (p.Phe854Tyr) c.2078T>A (p.Phe693Tyr) c.1973T>A (p.Phe658Tyr)
3	g.122284515T>C	CA354160290	CASR	c.2330T>C (p.Phe777Ser) c.2591T>C (p.Phe864Ser) c.2561T>C (p.Phe854Ser) c.2078T>C (p.Phe693Ser) c.1973T>C (p.Phe658Ser)
3	g.122284515T>G	CA354160291	CASR	c.2330T>G (p.Phe777Cys) c.2591T>G (p.Phe864Cys) c.2561T>G (p.Phe854Cys) c.2078T>G (p.Phe693Cys) c.1973T>G (p.Phe658Cys)
3	g.122284516C>A	CA354160292	CASR	c.2331C>A (p.Phe777Leu) c.2592C>A (p.Phe864Leu) c.2562C>A (p.Phe854Leu) c.2079C>A (p.Phe693Leu) c.1974C>A (p.Phe658Leu)
3	g.122284516C>G	CA354160293	CASR	c.2331C>G (p.Phe777Leu) c.2592C>G (p.Phe864Leu) c.2562C>G (p.Phe854Leu) c.2079C>G (p.Phe693Leu) c.1974C>G (p.Phe658Leu)
3	g.122284516C>T	CA435425341	CASR	c.2331C>T (p.Phe777=) c.2592C>T (p.Phe864=) c.2562C>T (p.Phe854=) c.2079C>T (p.Phe693=) c.1974C>T (p.Phe658=)
3	g.122284517A=	CA1397872536	CASR	c.2332A= (p.Asn778=) c.2593A= (p.Asn865=) c.2563A= (p.Asn855=) c.2080A= (p.Asn694=) c.1975A= (p.Asn659=)
3	g.122284517A>C	CA354160296	CASR	c.2332A>C (p.Asn778His) c.2593A>C (p.Asn865His) c.2563A>C (p.Asn855His) c.2080A>C (p.Asn694His) c.1975A>C (p.Asn659His)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284517A>G	CA354160295	CASR	c.2332A>G (p.Asn778Asp) c.2593A>G (p.Asn865Asp) c.2563A>G (p.Asn855Asp) c.2080A>G (p.Asn694Asp) c.1975A>G (p.Asn659Asp)
3	g.122284517A>T	CA354160294	CASR	c.2332A>T (p.Asn778Tyr) c.2593A>T (p.Asn865Tyr) c.2563A>T (p.Asn855Tyr) c.2080A>T (p.Asn694Tyr) c.1975A>T (p.Asn659Tyr)
3	g.122284518A=	CA1397872540	CASR	c.2333A= (p.Asn778=) c.2594A= (p.Asn865=) c.2564A= (p.Asn855=) c.2081A= (p.Asn694=) c.1976A= (p.Asn659=)
3	g.122284518A>C	CA354160297	CASR	c.2333A>C (p.Asn778Thr) c.2594A>C (p.Asn865Thr) c.2564A>C (p.Asn855Thr) c.2081A>C (p.Asn694Thr) c.1976A>C (p.Asn659Thr)
3	g.122284518A>G	CA354160298	CASR	c.2333A>G (p.Asn778Ser) c.2594A>G (p.Asn865Ser) c.2564A>G (p.Asn855Ser) c.2081A>G (p.Asn694Ser) c.1976A>G (p.Asn659Ser)	ClinVar dbSNP gnomAD v4
3	g.122284518A>T	CA354160299	CASR	c.2333A>T (p.Asn778Ile) c.2594A>T (p.Asn865Ile) c.2564A>T (p.Asn855Ile) c.2081A>T (p.Asn694Ile) c.1976A>T (p.Asn659Ile)
3	g.122284519C>A	CA354160300	CASR	c.2334C>A (p.Asn778Lys) c.2595C>A (p.Asn865Lys) c.2565C>A (p.Asn855Lys) c.2082C>A (p.Asn694Lys) c.1977C>A (p.Asn659Lys)
3	g.122284519C=	CA1397872545	CASR	c.2334C= (p.Asn778=) c.2595C= (p.Asn865=) c.2565C= (p.Asn855=) c.2082C= (p.Asn694=) c.1977C= (p.Asn659=)
3	g.122284519C>G	CA354160301	CASR	c.2334C>G (p.Asn778Lys) c.2595C>G (p.Asn865Lys) c.2565C>G (p.Asn855Lys) c.2082C>G (p.Asn694Lys) c.1977C>G (p.Asn659Lys)	ClinVar
3	g.122284519C>T	CA2569833	CASR	c.2334C>T (p.Asn778=) c.2595C>T (p.Asn865=) c.2565C>T (p.Asn855=) c.2082C>T (p.Asn694=) c.1977C>T (p.Asn659=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284520A>C	CA354160302	CASR	c.2335A>C (p.Lys779Gln) c.2596A>C (p.Lys866Gln) c.2566A>C (p.Lys856Gln) c.2083A>C (p.Lys695Gln) c.1978A>C (p.Lys660Gln)
3	g.122284520A>G	CA354160304	CASR	c.2335A>G (p.Lys779Glu) c.2596A>G (p.Lys866Glu) c.2566A>G (p.Lys856Glu) c.2083A>G (p.Lys695Glu) c.1978A>G (p.Lys660Glu)
3	g.122284520A>T	CA354160303	CASR	c.2335A>T (p.Lys779Ter) c.2596A>T (p.Lys866Ter) c.2566A>T (p.Lys856Ter) c.2083A>T (p.Lys695Ter) c.1978A>T (p.Lys660Ter)
3	g.122284521_122284527del	CA2586972873	CASR	c.2336_2342del (p.Lys779ThrfsTer?) c.2597_2603del (p.Lys866ThrfsTer?) c.2567_2573del (p.Lys856ThrfsTer?) c.2084_2090del (p.Lys695ThrfsTer?) c.1979_1985del (p.Lys660ThrfsTer?)
3	g.122284521A>C	CA354160305	CASR	c.2336A>C (p.Lys779Thr) c.2597A>C (p.Lys866Thr) c.2567A>C (p.Lys856Thr) c.2084A>C (p.Lys695Thr) c.1979A>C (p.Lys660Thr)
3	g.122284521A>G	CA354160306	CASR	c.2336A>G (p.Lys779Arg) c.2597A>G (p.Lys866Arg) c.2567A>G (p.Lys856Arg) c.2084A>G (p.Lys695Arg) c.1979A>G (p.Lys660Arg)
3	g.122284521A>T	CA354160307	CASR	c.2336A>T (p.Lys779Met) c.2597A>T (p.Lys866Met) c.2567A>T (p.Lys856Met) c.2084A>T (p.Lys695Met) c.1979A>T (p.Lys660Met)
3	g.122284522G>A	CA82749062	CASR	c.2337G>A (p.Lys779=) c.2598G>A (p.Lys866=) c.2568G>A (p.Lys856=) c.2085G>A (p.Lys695=) c.1980G>A (p.Lys660=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122284522G>C	CA354160308	CASR	c.2337G>C (p.Lys779Asn) c.2598G>C (p.Lys866Asn) c.2568G>C (p.Lys856Asn) c.2085G>C (p.Lys695Asn) c.1980G>C (p.Lys660Asn)
3	g.122284522G=	CA1397872549	CASR	c.2337G= (p.Lys779=) c.2598G= (p.Lys866=) c.2568G= (p.Lys856=) c.2085G= (p.Lys695=) c.1980G= (p.Lys660=)
3	g.122284522G>T	CA354160309	CASR	c.2337G>T (p.Lys779Asn) c.2598G>T (p.Lys866Asn) c.2568G>T (p.Lys856Asn) c.2085G>T (p.Lys695Asn) c.1980G>T (p.Lys660Asn)
3	g.122284523A>C	CA354160310	CASR	c.2338A>C (p.Ile780Leu) c.2599A>C (p.Ile867Leu) c.2569A>C (p.Ile857Leu) c.2086A>C (p.Ile696Leu) c.1981A>C (p.Ile661Leu)
3	g.122284523A>G	CA354160311	CASR	c.2338A>G (p.Ile780Val) c.2599A>G (p.Ile867Val) c.2569A>G (p.Ile857Val) c.2086A>G (p.Ile696Val) c.1981A>G (p.Ile661Val)
3	g.122284523A>T	CA354160312	CASR	c.2338A>T (p.Ile780Phe) c.2599A>T (p.Ile867Phe) c.2569A>T (p.Ile857Phe) c.2086A>T (p.Ile696Phe) c.1981A>T (p.Ile661Phe)	ClinVar
3	g.122284524T>A	CA354160313	CASR	c.2339T>A (p.Ile780Asn) c.2600T>A (p.Ile867Asn) c.2570T>A (p.Ile857Asn) c.2087T>A (p.Ile696Asn) c.1982T>A (p.Ile661Asn)	ClinVar dbSNP
3	g.122284524T>C	CA2569834	CASR	c.2339T>C (p.Ile780Thr) c.2600T>C (p.Ile867Thr) c.2570T>C (p.Ile857Thr) c.2087T>C (p.Ile696Thr) c.1982T>C (p.Ile661Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284524T>G	CA354160314	CASR	c.2339T>G (p.Ile780Ser) c.2600T>G (p.Ile867Ser) c.2570T>G (p.Ile857Ser) c.2087T>G (p.Ile696Ser) c.1982T>G (p.Ile661Ser)	ClinVar dbSNP gnomAD v4
3	g.122284524T=	CA1397872553	CASR	c.2339T= (p.Ile780=) c.2600T= (p.Ile867=) c.2570T= (p.Ile857=) c.2087T= (p.Ile696=) c.1982T= (p.Ile661=)
3	g.122284525C>A	CA435425343	CASR	c.2340C>A (p.Ile780=) c.2601C>A (p.Ile867=) c.2571C>A (p.Ile857=) c.2088C>A (p.Ile696=) c.1983C>A (p.Ile661=)
3	g.122284525C=	CA1397872562	CASR	c.2340C= (p.Ile780=) c.2601C= (p.Ile867=) c.2571C= (p.Ile857=) c.2088C= (p.Ile696=) c.1983C= (p.Ile661=)
3	g.122284525C>G	CA354160315	CASR	c.2340C>G (p.Ile780Met) c.2601C>G (p.Ile867Met) c.2571C>G (p.Ile857Met) c.2088C>G (p.Ile696Met) c.1983C>G (p.Ile661Met)
3	g.122284525C>T	CA435425342	CASR	c.2340C>T (p.Ile780=) c.2601C>T (p.Ile867=) c.2571C>T (p.Ile857=) c.2088C>T (p.Ile696=) c.1983C>T (p.Ile661=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284526T>A	CA354160317	CASR	c.2341T>A (p.Tyr781Asn) c.2602T>A (p.Tyr868Asn) c.2572T>A (p.Tyr858Asn) c.2089T>A (p.Tyr697Asn) c.1984T>A (p.Tyr662Asn)
3	g.122284526T>C	CA354160316	CASR	c.2341T>C (p.Tyr781His) c.2602T>C (p.Tyr868His) c.2572T>C (p.Tyr858His) c.2089T>C (p.Tyr697His) c.1984T>C (p.Tyr662His)
3	g.122284526T>G	CA2569835	CASR	c.2341T>G (p.Tyr781Asp) c.2602T>G (p.Tyr868Asp) c.2572T>G (p.Tyr858Asp) c.2089T>G (p.Tyr697Asp) c.1984T>G (p.Tyr662Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284526T=	CA1397872565	CASR	c.2341T= (p.Tyr781=) c.2602T= (p.Tyr868=) c.2572T= (p.Tyr858=) c.2089T= (p.Tyr697=) c.1984T= (p.Tyr662=)
3	g.122284527A>C	CA354160318	CASR	c.2342A>C (p.Tyr781Ser) c.2603A>C (p.Tyr868Ser) c.2573A>C (p.Tyr858Ser) c.2090A>C (p.Tyr697Ser) c.1985A>C (p.Tyr662Ser)
3	g.122284527A>G	CA354160319	CASR	c.2342A>G (p.Tyr781Cys) c.2603A>G (p.Tyr868Cys) c.2573A>G (p.Tyr858Cys) c.2090A>G (p.Tyr697Cys) c.1985A>G (p.Tyr662Cys)
3	g.122284527A>T	CA354160320	CASR	c.2342A>T (p.Tyr781Phe) c.2603A>T (p.Tyr868Phe) c.2573A>T (p.Tyr858Phe) c.2090A>T (p.Tyr697Phe) c.1985A>T (p.Tyr662Phe)
3	g.122284528C>A	CA354160321	CASR	c.2343C>A (p.Tyr781Ter) c.2604C>A (p.Tyr868Ter) c.2574C>A (p.Tyr858Ter) c.2091C>A (p.Tyr697Ter) c.1986C>A (p.Tyr662Ter)
3	g.122284528C>G	CA354160322	CASR	c.2343C>G (p.Tyr781Ter) c.2604C>G (p.Tyr868Ter) c.2574C>G (p.Tyr858Ter) c.2091C>G (p.Tyr697Ter) c.1986C>G (p.Tyr662Ter)	gnomAD v4
3	g.122284528C>T	CA435425344	CASR	c.2343C>T (p.Tyr781=) c.2604C>T (p.Tyr868=) c.2574C>T (p.Tyr858=) c.2091C>T (p.Tyr697=) c.1986C>T (p.Tyr662=)
3	g.122284529A=	CA1397872569	CASR	c.2344A= (p.Ile782=) c.2605A= (p.Ile869=) c.2575A= (p.Ile859=) c.2092A= (p.Ile698=) c.1987A= (p.Ile663=)
3	g.122284529A>C	CA354160323	CASR	c.2344A>C (p.Ile782Leu) c.2605A>C (p.Ile869Leu) c.2575A>C (p.Ile859Leu) c.2092A>C (p.Ile698Leu) c.1987A>C (p.Ile663Leu)	ClinVar dbSNP
3	g.122284529A>G	CA354160325	CASR	c.2344A>G (p.Ile782Val) c.2605A>G (p.Ile869Val) c.2575A>G (p.Ile859Val) c.2092A>G (p.Ile698Val) c.1987A>G (p.Ile663Val)	ClinVar
3	g.122284529A>T	CA354160324	CASR	c.2344A>T (p.Ile782Phe) c.2605A>T (p.Ile869Phe) c.2575A>T (p.Ile859Phe) c.2092A>T (p.Ile698Phe) c.1987A>T (p.Ile663Phe)
3	g.122284530T>A	CA354160326	CASR	c.2345T>A (p.Ile782Asn) c.2606T>A (p.Ile869Asn) c.2576T>A (p.Ile859Asn) c.2093T>A (p.Ile698Asn) c.1988T>A (p.Ile663Asn)	ClinVar dbSNP
3	g.122284530T>C	CA354160327	CASR	c.2345T>C (p.Ile782Thr) c.2606T>C (p.Ile869Thr) c.2576T>C (p.Ile859Thr) c.2093T>C (p.Ile698Thr) c.1988T>C (p.Ile663Thr)	ClinVar
3	g.122284530T>G	CA354160328	CASR	c.2345T>G (p.Ile782Ser) c.2606T>G (p.Ile869Ser) c.2576T>G (p.Ile859Ser) c.2093T>G (p.Ile698Ser) c.1988T>G (p.Ile663Ser)
3	g.122284531C>A	CA435425345	CASR	c.2346C>A (p.Ile782=) c.2607C>A (p.Ile869=) c.2577C>A (p.Ile859=) c.2094C>A (p.Ile698=) c.1989C>A (p.Ile663=)
3	g.122284531C>G	CA354160329	CASR	c.2346C>G (p.Ile782Met) c.2607C>G (p.Ile869Met) c.2577C>G (p.Ile859Met) c.2094C>G (p.Ile698Met) c.1989C>G (p.Ile663Met)
3	g.122284531C>T	CA435425346	CASR	c.2346C>T (p.Ile782=) c.2607C>T (p.Ile869=) c.2577C>T (p.Ile859=) c.2094C>T (p.Ile698=) c.1989C>T (p.Ile663=)
3	g.122284532A>C	CA354160332	CASR	c.2347A>C (p.Ile783Leu) c.2608A>C (p.Ile870Leu) c.2578A>C (p.Ile860Leu) c.2095A>C (p.Ile699Leu) c.1990A>C (p.Ile664Leu)
3	g.122284532A>G	CA354160330	CASR	c.2347A>G (p.Ile783Val) c.2608A>G (p.Ile870Val) c.2578A>G (p.Ile860Val) c.2095A>G (p.Ile699Val) c.1990A>G (p.Ile664Val)
3	g.122284532A>T	CA354160331	CASR	c.2347A>T (p.Ile783Phe) c.2608A>T (p.Ile870Phe) c.2578A>T (p.Ile860Phe) c.2095A>T (p.Ile699Phe) c.1990A>T (p.Ile664Phe)
3	g.122284533T>A	CA354160333	CASR	c.2348T>A (p.Ile783Asn) c.2609T>A (p.Ile870Asn) c.2579T>A (p.Ile860Asn) c.2096T>A (p.Ile699Asn) c.1991T>A (p.Ile664Asn)
3	g.122284533T>C	CA354160334	CASR	c.2348T>C (p.Ile783Thr) c.2609T>C (p.Ile870Thr) c.2579T>C (p.Ile860Thr) c.2096T>C (p.Ile699Thr) c.1991T>C (p.Ile664Thr)
3	g.122284533T>G	CA354160335	CASR	c.2348T>G (p.Ile783Ser) c.2609T>G (p.Ile870Ser) c.2579T>G (p.Ile860Ser) c.2096T>G (p.Ile699Ser) c.1991T>G (p.Ile664Ser)
3	g.122284534T>A	CA435425347	CASR	c.2349T>A (p.Ile783=) c.2610T>A (p.Ile870=) c.2580T>A (p.Ile860=) c.2097T>A (p.Ile699=) c.1992T>A (p.Ile664=)
3	g.122284534T>C	CA435425348	CASR	c.2349T>C (p.Ile783=) c.2610T>C (p.Ile870=) c.2580T>C (p.Ile860=) c.2097T>C (p.Ile699=) c.1992T>C (p.Ile664=)
3	g.122284534T>G	CA354160336	CASR	c.2349T>G (p.Ile783Met) c.2610T>G (p.Ile870Met) c.2580T>G (p.Ile860Met) c.2097T>G (p.Ile699Met) c.1992T>G (p.Ile664Met)
3	g.122284535C>A	CA354160337	CASR	c.2350C>A (p.Leu784Ile) c.2611C>A (p.Leu871Ile) c.2581C>A (p.Leu861Ile) c.2098C>A (p.Leu700Ile) c.1993C>A (p.Leu665Ile)
3	g.122284535C=	CA1397872575	CASR	c.2350C= (p.Leu784=) c.2611C= (p.Leu871=) c.2581C= (p.Leu861=) c.2098C= (p.Leu700=) c.1993C= (p.Leu665=)
3	g.122284535C>G	CA354160338	CASR	c.2350C>G (p.Leu784Val) c.2611C>G (p.Leu871Val) c.2581C>G (p.Leu861Val) c.2098C>G (p.Leu700Val) c.1993C>G (p.Leu665Val)	ClinVar dbSNP gnomAD v4
3	g.122284535C>T	CA354160339	CASR	c.2350C>T (p.Leu784Phe) c.2611C>T (p.Leu871Phe) c.2581C>T (p.Leu861Phe) c.2098C>T (p.Leu700Phe) c.1993C>T (p.Leu665Phe)
3	g.122284536T>A	CA354160340	CASR	c.2351T>A (p.Leu784His) c.2612T>A (p.Leu871His) c.2582T>A (p.Leu861His) c.2099T>A (p.Leu700His) c.1994T>A (p.Leu665His)	ClinVar
3	g.122284536T>C	CA354160341	CASR	c.2351T>C (p.Leu784Pro) c.2612T>C (p.Leu871Pro) c.2582T>C (p.Leu861Pro) c.2099T>C (p.Leu700Pro) c.1994T>C (p.Leu665Pro)	ClinVar
3	g.122284536T>G	CA354160342	CASR	c.2351T>G (p.Leu784Arg) c.2612T>G (p.Leu871Arg) c.2582T>G (p.Leu861Arg) c.2099T>G (p.Leu700Arg) c.1994T>G (p.Leu665Arg)
3	g.122284537C>A	CA435425349	CASR	c.2352C>A (p.Leu784=) c.2613C>A (p.Leu871=) c.2583C>A (p.Leu861=) c.2100C>A (p.Leu700=) c.1995C>A (p.Leu665=)
3	g.122284537C>G	CA435425350	CASR	c.2352C>G (p.Leu784=) c.2613C>G (p.Leu871=) c.2583C>G (p.Leu861=) c.2100C>G (p.Leu700=) c.1995C>G (p.Leu665=)
3	g.122284537C>T	CA435425351	CASR	c.2352C>T (p.Leu784=) c.2613C>T (p.Leu871=) c.2583C>T (p.Leu861=) c.2100C>T (p.Leu700=) c.1995C>T (p.Leu665=)	ClinVar dbSNP gnomAD v4
3	g.122284538T>A	CA354160343	CASR	c.2353T>A (p.Phe785Ile) c.2614T>A (p.Phe872Ile) c.2584T>A (p.Phe862Ile) c.2101T>A (p.Phe701Ile) c.1996T>A (p.Phe666Ile)
3	g.122284538T>C	CA354160344	CASR	c.2353T>C (p.Phe785Leu) c.2614T>C (p.Phe872Leu) c.2584T>C (p.Phe862Leu) c.2101T>C (p.Phe701Leu) c.1996T>C (p.Phe666Leu)
3	g.122284538T>G	CA354160345	CASR	c.2353T>G (p.Phe785Val) c.2614T>G (p.Phe872Val) c.2584T>G (p.Phe862Val) c.2101T>G (p.Phe701Val) c.1996T>G (p.Phe666Val)
3	g.122284539T>A	CA354160347	CASR	c.2354T>A (p.Phe785Tyr) c.2615T>A (p.Phe872Tyr) c.2585T>A (p.Phe862Tyr) c.2102T>A (p.Phe701Tyr) c.1997T>A (p.Phe666Tyr)
3	g.122284539T>C	CA2569836	CASR	c.2354T>C (p.Phe785Ser) c.2615T>C (p.Phe872Ser) c.2585T>C (p.Phe862Ser) c.2102T>C (p.Phe701Ser) c.1997T>C (p.Phe666Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284539T>G	CA354160346	CASR	c.2354T>G (p.Phe785Cys) c.2615T>G (p.Phe872Cys) c.2585T>G (p.Phe862Cys) c.2102T>G (p.Phe701Cys) c.1997T>G (p.Phe666Cys)
3	g.122284539T=	CA1397872582	CASR	c.2354T= (p.Phe785=) c.2615T= (p.Phe872=) c.2585T= (p.Phe862=) c.2102T= (p.Phe701=) c.1997T= (p.Phe666=)
3	g.122284540C>A	CA354160348	CASR	c.2355C>A (p.Phe785Leu) c.2616C>A (p.Phe872Leu) c.2586C>A (p.Phe862Leu) c.2103C>A (p.Phe701Leu) c.1998C>A (p.Phe666Leu)
3	g.122284540C>G	CA354160349	CASR	c.2355C>G (p.Phe785Leu) c.2616C>G (p.Phe872Leu) c.2586C>G (p.Phe862Leu) c.2103C>G (p.Phe701Leu) c.1998C>G (p.Phe666Leu)
3	g.122284540C>T	CA435425352	CASR	c.2355C>T (p.Phe785=) c.2616C>T (p.Phe872=) c.2586C>T (p.Phe862=) c.2103C>T (p.Phe701=) c.1998C>T (p.Phe666=)	dbSNP
3	g.122284541A>C	CA354160350	CASR	c.2356A>C (p.Lys786Gln) c.2617A>C (p.Lys873Gln) c.2587A>C (p.Lys863Gln) c.2104A>C (p.Lys702Gln) c.1999A>C (p.Lys667Gln)
3	g.122284541A>G	CA354160351	CASR	c.2356A>G (p.Lys786Glu) c.2617A>G (p.Lys873Glu) c.2587A>G (p.Lys863Glu) c.2104A>G (p.Lys702Glu) c.1999A>G (p.Lys667Glu)
3	g.122284541A>T	CA354160352	CASR	c.2356A>T (p.Lys786Ter) c.2617A>T (p.Lys873Ter) c.2587A>T (p.Lys863Ter) c.2104A>T (p.Lys702Ter) c.1999A>T (p.Lys667Ter)
3	g.122284542A>C	CA354160353	CASR	c.2357A>C (p.Lys786Thr) c.2618A>C (p.Lys873Thr) c.2588A>C (p.Lys863Thr) c.2105A>C (p.Lys702Thr) c.2000A>C (p.Lys667Thr)
3	g.122284542A>G	CA354160354	CASR	c.2357A>G (p.Lys786Arg) c.2618A>G (p.Lys873Arg) c.2588A>G (p.Lys863Arg) c.2105A>G (p.Lys702Arg) c.2000A>G (p.Lys667Arg)
3	g.122284542A>T	CA354160355	CASR	c.2357A>T (p.Lys786Met) c.2618A>T (p.Lys873Met) c.2588A>T (p.Lys863Met) c.2105A>T (p.Lys702Met) c.2000A>T (p.Lys667Met)
3	g.122284543G>A	CA435425353	CASR	c.2358G>A (p.Lys786=) c.2619G>A (p.Lys873=) c.2589G>A (p.Lys863=) c.2106G>A (p.Lys702=) c.2001G>A (p.Lys667=)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284543G>C	CA354160356	CASR	c.2358G>C (p.Lys786Asn) c.2619G>C (p.Lys873Asn) c.2589G>C (p.Lys863Asn) c.2106G>C (p.Lys702Asn) c.2001G>C (p.Lys667Asn)
3	g.122284543G=	CA1397872584	CASR	c.2358G= (p.Lys786=) c.2619G= (p.Lys873=) c.2589G= (p.Lys863=) c.2106G= (p.Lys702=) c.2001G= (p.Lys667=)
3	g.122284543G>T	CA354160357	CASR	c.2358G>T (p.Lys786Asn) c.2619G>T (p.Lys873Asn) c.2589G>T (p.Lys863Asn) c.2106G>T (p.Lys702Asn) c.2001G>T (p.Lys667Asn)
3	g.122284544C>A	CA354160358	CASR	c.2359C>A (p.Pro787Thr) c.2620C>A (p.Pro874Thr) c.2590C>A (p.Pro864Thr) c.2107C>A (p.Pro703Thr) c.2002C>A (p.Pro668Thr)
3	g.122284544C>G	CA354160359	CASR	c.2359C>G (p.Pro787Ala) c.2620C>G (p.Pro874Ala) c.2590C>G (p.Pro864Ala) c.2107C>G (p.Pro703Ala) c.2002C>G (p.Pro668Ala)
3	g.122284544C>T	CA354160360	CASR	c.2359C>T (p.Pro787Ser) c.2620C>T (p.Pro874Ser) c.2590C>T (p.Pro864Ser) c.2107C>T (p.Pro703Ser) c.2002C>T (p.Pro668Ser)	COSMIC
3	g.122284545C>A	CA354160363	CASR	c.2360C>A (p.Pro787Gln) c.2621C>A (p.Pro874Gln) c.2591C>A (p.Pro864Gln) c.2108C>A (p.Pro703Gln) c.2003C>A (p.Pro668Gln)
3	g.122284545C>G	CA354160361	CASR	c.2360C>G (p.Pro787Arg) c.2621C>G (p.Pro874Arg) c.2591C>G (p.Pro864Arg) c.2108C>G (p.Pro703Arg) c.2003C>G (p.Pro668Arg)
3	g.122284545C>T	CA354160362	CASR	c.2360C>T (p.Pro787Leu) c.2621C>T (p.Pro874Leu) c.2591C>T (p.Pro864Leu) c.2108C>T (p.Pro703Leu) c.2003C>T (p.Pro668Leu)	COSMIC
3	g.122284546A>C	CA435425354	CASR	c.2361A>C (p.Pro787=) c.2622A>C (p.Pro874=) c.2592A>C (p.Pro864=) c.2109A>C (p.Pro703=) c.2004A>C (p.Pro668=)
3	g.122284546A>G	CA435425356	CASR	c.2361A>G (p.Pro787=) c.2622A>G (p.Pro874=) c.2592A>G (p.Pro864=) c.2109A>G (p.Pro703=) c.2004A>G (p.Pro668=)	ClinVar
3	g.122284546A>T	CA435425355	CASR	c.2361A>T (p.Pro787=) c.2622A>T (p.Pro874=) c.2592A>T (p.Pro864=) c.2109A>T (p.Pro703=) c.2004A>T (p.Pro668=)
3	g.122284547T>A	CA354160364	CASR	c.2362T>A (p.Ser788Thr) c.2623T>A (p.Ser875Thr) c.2593T>A (p.Ser865Thr) c.2110T>A (p.Ser704Thr) c.2005T>A (p.Ser669Thr)
3	g.122284547T>C	CA354160365	CASR	c.2362T>C (p.Ser788Pro) c.2623T>C (p.Ser875Pro) c.2593T>C (p.Ser865Pro) c.2110T>C (p.Ser704Pro) c.2005T>C (p.Ser669Pro)
3	g.122284547T>G	CA354160366	CASR	c.2362T>G (p.Ser788Ala) c.2623T>G (p.Ser875Ala) c.2593T>G (p.Ser865Ala) c.2110T>G (p.Ser704Ala) c.2005T>G (p.Ser669Ala)
3	g.122284548C>A	CA354160367	CASR	c.2363C>A (p.Ser788Tyr) c.2624C>A (p.Ser875Tyr) c.2594C>A (p.Ser865Tyr) c.2111C>A (p.Ser704Tyr) c.2006C>A (p.Ser669Tyr)
3	g.122284548C=	CA1397872587	CASR	c.2363C= (p.Ser788=) c.2624C= (p.Ser875=) c.2594C= (p.Ser865=) c.2111C= (p.Ser704=) c.2006C= (p.Ser669=)
3	g.122284548C>G	CA354160368	CASR	c.2363C>G (p.Ser788Cys) c.2624C>G (p.Ser875Cys) c.2594C>G (p.Ser865Cys) c.2111C>G (p.Ser704Cys) c.2006C>G (p.Ser669Cys)	ClinVar dbSNP gnomAD v4
3	g.122284548C>T	CA354160369	CASR	c.2363C>T (p.Ser788Phe) c.2624C>T (p.Ser875Phe) c.2594C>T (p.Ser865Phe) c.2111C>T (p.Ser704Phe) c.2006C>T (p.Ser669Phe)	ClinVar dbSNP
3	g.122284550del	CA2586972874	CASR	c.2365del (p.Arg789AlafsTer?) c.2626del (p.Arg876AlafsTer?) c.2596del (p.Arg866AlafsTer?) c.2113del (p.Arg705AlafsTer?) c.2008del (p.Arg670AlafsTer?)

Number of alleles fetched