Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
3	g.122284288del	CA2586972870	CASR	c.2103del (p.Tyr702ThrfsTer?) c.2364del (p.Tyr789ThrfsTer?) c.2334del (p.Tyr779ThrfsTer?) c.1851del (p.Tyr618ThrfsTer?) c.1746del (p.Tyr583ThrfsTer?)
3	g.122284288C>A	CA435424935	CASR	c.2103C>A (p.Gly701=) c.2364C>A (p.Gly788=) c.2334C>A (p.Gly778=) c.1851C>A (p.Gly617=) c.1746C>A (p.Gly582=)
3	g.122284288C=	CA1397872110	CASR	c.2103C= (p.Gly701=) c.2364C= (p.Gly788=) c.2334C= (p.Gly778=) c.1851C= (p.Gly617=) c.1746C= (p.Gly582=)
3	g.122284288C>G	CA435424936	CASR	c.2103C>G (p.Gly701=) c.2364C>G (p.Gly788=) c.2334C>G (p.Gly778=) c.1851C>G (p.Gly617=) c.1746C>G (p.Gly582=)
3	g.122284288C>T	CA435424937	CASR	c.2103C>T (p.Gly701=) c.2364C>T (p.Gly788=) c.2334C>T (p.Gly778=) c.1851C>T (p.Gly617=) c.1746C>T (p.Gly582=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284289T>A	CA354159561	CASR	c.2104T>A (p.Tyr702Asn) c.2365T>A (p.Tyr789Asn) c.2335T>A (p.Tyr779Asn) c.1852T>A (p.Tyr618Asn) c.1747T>A (p.Tyr583Asn)
3	g.122284289T>C	CA2569817	CASR	c.2104T>C (p.Tyr702His) c.2365T>C (p.Tyr789His) c.2335T>C (p.Tyr779His) c.1852T>C (p.Tyr618His) c.1747T>C (p.Tyr583His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284289T>G	CA354159558	CASR	c.2104T>G (p.Tyr702Asp) c.2365T>G (p.Tyr789Asp) c.2335T>G (p.Tyr779Asp) c.1852T>G (p.Tyr618Asp) c.1747T>G (p.Tyr583Asp)
3	g.122284289T=	CA1397872113	CASR	c.2104T= (p.Tyr702=) c.2365T= (p.Tyr789=) c.2335T= (p.Tyr779=) c.1852T= (p.Tyr618=) c.1747T= (p.Tyr583=)
3	g.122284290A=	CA1397872116	CASR	c.2105A= (p.Tyr702=) c.2366A= (p.Tyr789=) c.2336A= (p.Tyr779=) c.1853A= (p.Tyr618=) c.1748A= (p.Tyr583=)
3	g.122284290A>C	CA354159562	CASR	c.2105A>C (p.Tyr702Ser) c.2366A>C (p.Tyr789Ser) c.2336A>C (p.Tyr779Ser) c.1853A>C (p.Tyr618Ser) c.1748A>C (p.Tyr583Ser)	dbSNP
3	g.122284290A>G	CA354159563	CASR	c.2105A>G (p.Tyr702Cys) c.2366A>G (p.Tyr789Cys) c.2336A>G (p.Tyr779Cys) c.1853A>G (p.Tyr618Cys) c.1748A>G (p.Tyr583Cys)
3	g.122284290A>T	CA354159565	CASR	c.2105A>T (p.Tyr702Phe) c.2366A>T (p.Tyr789Phe) c.2336A>T (p.Tyr779Phe) c.1853A>T (p.Tyr618Phe) c.1748A>T (p.Tyr583Phe)
3	g.122284291C>A	CA354159568	CASR	c.2106C>A (p.Tyr702Ter) c.2367C>A (p.Tyr789Ter) c.2337C>A (p.Tyr779Ter) c.1854C>A (p.Tyr618Ter) c.1749C>A (p.Tyr583Ter)	gnomAD v4
3	g.122284291C=	CA1397872118	CASR	c.2106C= (p.Tyr702=) c.2367C= (p.Tyr789=) c.2337C= (p.Tyr779=) c.1854C= (p.Tyr618=) c.1749C= (p.Tyr583=)
3	g.122284291C>G	CA354159571	CASR	c.2106C>G (p.Tyr702Ter) c.2367C>G (p.Tyr789Ter) c.2337C>G (p.Tyr779Ter) c.1854C>G (p.Tyr618Ter) c.1749C>G (p.Tyr583Ter)
3	g.122284291C>T	CA435424942	CASR	c.2106C>T (p.Tyr702=) c.2367C>T (p.Tyr789=) c.2337C>T (p.Tyr779=) c.1854C>T (p.Tyr618=) c.1749C>T (p.Tyr583=)	ClinVar dbSNP gnomAD v4
3	g.122284292A=	CA1397872119	CASR	c.2107A= (p.Thr703=) c.2368A= (p.Thr790=) c.2338A= (p.Thr780=) c.1855A= (p.Thr619=) c.1750A= (p.Thr584=)
3	g.122284292A>C	CA354159577	CASR	c.2107A>C (p.Thr703Pro) c.2368A>C (p.Thr790Pro) c.2338A>C (p.Thr780Pro) c.1855A>C (p.Thr619Pro) c.1750A>C (p.Thr584Pro)	dbSNP
3	g.122284292A>G	CA354159573	CASR	c.2107A>G (p.Thr703Ala) c.2368A>G (p.Thr790Ala) c.2338A>G (p.Thr780Ala) c.1855A>G (p.Thr619Ala) c.1750A>G (p.Thr584Ala)	COSMIC
3	g.122284292A>T	CA354159575	CASR	c.2107A>T (p.Thr703Ser) c.2368A>T (p.Thr790Ser) c.2338A>T (p.Thr780Ser) c.1855A>T (p.Thr619Ser) c.1750A>T (p.Thr584Ser)
3	g.122284293C>A	CA354159579	CASR	c.2108C>A (p.Thr703Asn) c.2369C>A (p.Thr790Asn) c.2339C>A (p.Thr780Asn) c.1856C>A (p.Thr619Asn) c.1751C>A (p.Thr584Asn)	ClinVar dbSNP
3	g.122284293C=	CA1397872131	CASR	c.2108C= (p.Thr703=) c.2369C= (p.Thr790=) c.2339C= (p.Thr780=) c.1856C= (p.Thr619=) c.1751C= (p.Thr584=)
3	g.122284293C>G	CA354159581	CASR	c.2108C>G (p.Thr703Ser) c.2369C>G (p.Thr790Ser) c.2339C>G (p.Thr780Ser) c.1856C>G (p.Thr619Ser) c.1751C>G (p.Thr584Ser)	ClinVar dbSNP
3	g.122284293C>T	CA2569818	CASR	c.2108C>T (p.Thr703Ile) c.2369C>T (p.Thr790Ile) c.2339C>T (p.Thr780Ile) c.1856C>T (p.Thr619Ile) c.1751C>T (p.Thr584Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284294C>A	CA435425078	CASR	c.2109C>A (p.Thr703=) c.2370C>A (p.Thr790=) c.2340C>A (p.Thr780=) c.1857C>A (p.Thr619=) c.1752C>A (p.Thr584=)	COSMIC
3	g.122284294C>G	CA435425080	CASR	c.2109C>G (p.Thr703=) c.2370C>G (p.Thr790=) c.2340C>G (p.Thr780=) c.1857C>G (p.Thr619=) c.1752C>G (p.Thr584=)
3	g.122284294C>T	CA435425082	CASR	c.2109C>T (p.Thr703=) c.2370C>T (p.Thr790=) c.2340C>T (p.Thr780=) c.1857C>T (p.Thr619=) c.1752C>T (p.Thr584=)	gnomAD v4
3	g.122284295T>A	CA354159585	CASR	c.2110T>A (p.Cys704Ser) c.2371T>A (p.Cys791Ser) c.2341T>A (p.Cys781Ser) c.1858T>A (p.Cys620Ser) c.1753T>A (p.Cys585Ser)	ClinVar dbSNP
3	g.122284295T>C	CA354159586	CASR	c.2110T>C (p.Cys704Arg) c.2371T>C (p.Cys791Arg) c.2341T>C (p.Cys781Arg) c.1858T>C (p.Cys620Arg) c.1753T>C (p.Cys585Arg)
3	g.122284295T>G	CA354159587	CASR	c.2110T>G (p.Cys704Gly) c.2371T>G (p.Cys791Gly) c.2341T>G (p.Cys781Gly) c.1858T>G (p.Cys620Gly) c.1753T>G (p.Cys585Gly)	ClinVar
3	g.122284296G>A	CA354159588	CASR	c.2111G>A (p.Cys704Tyr) c.2372G>A (p.Cys791Tyr) c.2342G>A (p.Cys781Tyr) c.1859G>A (p.Cys620Tyr) c.1754G>A (p.Cys585Tyr)
3	g.122284296G>C	CA354159589	CASR	c.2111G>C (p.Cys704Ser) c.2372G>C (p.Cys791Ser) c.2342G>C (p.Cys781Ser) c.1859G>C (p.Cys620Ser) c.1754G>C (p.Cys585Ser)
3	g.122284296G>T	CA354159590	CASR	c.2111G>T (p.Cys704Phe) c.2372G>T (p.Cys791Phe) c.2342G>T (p.Cys781Phe) c.1859G>T (p.Cys620Phe) c.1754G>T (p.Cys585Phe)
3	g.122284297C>A	CA354159591	CASR	c.2112C>A (p.Cys704Ter) c.2373C>A (p.Cys791Ter) c.2343C>A (p.Cys781Ter) c.1860C>A (p.Cys620Ter) c.1755C>A (p.Cys585Ter)
3	g.122284297C=	CA1397872140	CASR	c.2112C= (p.Cys704=) c.2373C= (p.Cys791=) c.2343C= (p.Cys781=) c.1860C= (p.Cys620=) c.1755C= (p.Cys585=)
3	g.122284297C>G	CA354159592	CASR	c.2112C>G (p.Cys704Trp) c.2373C>G (p.Cys791Trp) c.2343C>G (p.Cys781Trp) c.1860C>G (p.Cys620Trp) c.1755C>G (p.Cys585Trp)
3	g.122284297C>T	CA435425088	CASR	c.2112C>T (p.Cys704=) c.2373C>T (p.Cys791=) c.2343C>T (p.Cys781=) c.1860C>T (p.Cys620=) c.1755C>T (p.Cys585=)	ClinVar dbSNP gnomAD v4
3	g.122284298C>A	CA354159593	CASR	c.2113C>A (p.Leu705Met) c.2374C>A (p.Leu792Met) c.2344C>A (p.Leu782Met) c.1861C>A (p.Leu621Met) c.1756C>A (p.Leu586Met)	dbSNP gnomAD v4
3	g.122284298C=	CA1397872147	CASR	c.2113C= (p.Leu705=) c.2374C= (p.Leu792=) c.2344C= (p.Leu782=) c.1861C= (p.Leu621=) c.1756C= (p.Leu586=)
3	g.122284298C>G	CA354159594	CASR	c.2113C>G (p.Leu705Val) c.2374C>G (p.Leu792Val) c.2344C>G (p.Leu782Val) c.1861C>G (p.Leu621Val) c.1756C>G (p.Leu586Val)
3	g.122284298C>T	CA435425090	CASR	c.2113C>T (p.Leu705=) c.2374C>T (p.Leu792=) c.2344C>T (p.Leu782=) c.1861C>T (p.Leu621=) c.1756C>T (p.Leu586=)
3	g.122284299T>A	CA354159595	CASR	c.2114T>A (p.Leu705Gln) c.2375T>A (p.Leu792Gln) c.2345T>A (p.Leu782Gln) c.1862T>A (p.Leu621Gln) c.1757T>A (p.Leu586Gln)
3	g.122284299T>C	CA354159597	CASR	c.2114T>C (p.Leu705Pro) c.2375T>C (p.Leu792Pro) c.2345T>C (p.Leu782Pro) c.1862T>C (p.Leu621Pro) c.1757T>C (p.Leu586Pro)
3	g.122284299T>G	CA354159596	CASR	c.2114T>G (p.Leu705Arg) c.2375T>G (p.Leu792Arg) c.2345T>G (p.Leu782Arg) c.1862T>G (p.Leu621Arg) c.1757T>G (p.Leu586Arg)
3	g.122284300G>A	CA435425094	CASR	c.2115G>A (p.Leu705=) c.2376G>A (p.Leu792=) c.2346G>A (p.Leu782=) c.1863G>A (p.Leu621=) c.1758G>A (p.Leu586=)	COSMIC
3	g.122284300G>C	CA435425097	CASR	c.2115G>C (p.Leu705=) c.2376G>C (p.Leu792=) c.2346G>C (p.Leu782=) c.1863G>C (p.Leu621=) c.1758G>C (p.Leu586=)	ClinVar
3	g.122284300G>T	CA435425096	CASR	c.2115G>T (p.Leu705=) c.2376G>T (p.Leu792=) c.2346G>T (p.Leu782=) c.1863G>T (p.Leu621=) c.1758G>T (p.Leu586=)
3	g.122284301C>A	CA354159598	CASR	c.2116C>A (p.Leu706Met) c.2377C>A (p.Leu793Met) c.2347C>A (p.Leu783Met) c.1864C>A (p.Leu622Met) c.1759C>A (p.Leu587Met)
3	g.122284301C>G	CA354159599	CASR	c.2116C>G (p.Leu706Val) c.2377C>G (p.Leu793Val) c.2347C>G (p.Leu783Val) c.1864C>G (p.Leu622Val) c.1759C>G (p.Leu587Val)
3	g.122284301C>T	CA435425098	CASR	c.2116C>T (p.Leu706=) c.2377C>T (p.Leu793=) c.2347C>T (p.Leu783=) c.1864C>T (p.Leu622=) c.1759C>T (p.Leu587=)	ClinVar
3	g.122284302T>A	CA354159600	CASR	c.2117T>A (p.Leu706Gln) c.2378T>A (p.Leu793Gln) c.2348T>A (p.Leu783Gln) c.1865T>A (p.Leu622Gln) c.1760T>A (p.Leu587Gln)	dbSNP gnomAD v2 gnomAD v4
3	g.122284302T>C	CA354159601	CASR	c.2117T>C (p.Leu706Pro) c.2378T>C (p.Leu793Pro) c.2348T>C (p.Leu783Pro) c.1865T>C (p.Leu622Pro) c.1760T>C (p.Leu587Pro)
3	g.122284302T>G	CA354159602	CASR	c.2117T>G (p.Leu706Arg) c.2378T>G (p.Leu793Arg) c.2348T>G (p.Leu783Arg) c.1865T>G (p.Leu622Arg) c.1760T>G (p.Leu587Arg)
3	g.122284302T=	CA1397872151	CASR	c.2117T= (p.Leu706=) c.2378T= (p.Leu793=) c.2348T= (p.Leu783=) c.1865T= (p.Leu622=) c.1760T= (p.Leu587=)
3	g.122284303G>A	CA435425099	CASR	c.2118G>A (p.Leu706=) c.2379G>A (p.Leu793=) c.2349G>A (p.Leu783=) c.1866G>A (p.Leu622=) c.1761G>A (p.Leu587=)	ClinVar dbSNP
3	g.122284303G>C	CA435425101	CASR	c.2118G>C (p.Leu706=) c.2379G>C (p.Leu793=) c.2349G>C (p.Leu783=) c.1866G>C (p.Leu622=) c.1761G>C (p.Leu587=)
3	g.122284303G=	CA1397872156	CASR	c.2118G= (p.Leu706=) c.2379G= (p.Leu793=) c.2349G= (p.Leu783=) c.1866G= (p.Leu622=) c.1761G= (p.Leu587=)
3	g.122284303G>T	CA435425102	CASR	c.2118G>T (p.Leu706=) c.2379G>T (p.Leu793=) c.2349G>T (p.Leu783=) c.1866G>T (p.Leu622=) c.1761G>T (p.Leu587=)
3	g.122284304G>A	CA354159605	CASR	c.2119G>A (p.Ala707Thr) c.2380G>A (p.Ala794Thr) c.2350G>A (p.Ala784Thr) c.1867G>A (p.Ala623Thr) c.1762G>A (p.Ala588Thr)	gnomAD v4
3	g.122284304G>C	CA354159604	CASR	c.2119G>C (p.Ala707Pro) c.2380G>C (p.Ala794Pro) c.2350G>C (p.Ala784Pro) c.1867G>C (p.Ala623Pro) c.1762G>C (p.Ala588Pro)	dbSNP gnomAD v3 gnomAD v4
3	g.122284304G=	CA1397872158	CASR	c.2119G= (p.Ala707=) c.2380G= (p.Ala794=) c.2350G= (p.Ala784=) c.1867G= (p.Ala623=) c.1762G= (p.Ala588=)
3	g.122284304G>T	CA354159603	CASR	c.2119G>T (p.Ala707Ser) c.2380G>T (p.Ala794Ser) c.2350G>T (p.Ala784Ser) c.1867G>T (p.Ala623Ser) c.1762G>T (p.Ala588Ser)	COSMIC
3	g.122284305C>A	CA354159606	CASR	c.2120C>A (p.Ala707Asp) c.2381C>A (p.Ala794Asp) c.2351C>A (p.Ala784Asp) c.1868C>A (p.Ala623Asp) c.1763C>A (p.Ala588Asp)
3	g.122284305C>G	CA354159607	CASR	c.2120C>G (p.Ala707Gly) c.2381C>G (p.Ala794Gly) c.2351C>G (p.Ala784Gly) c.1868C>G (p.Ala623Gly) c.1763C>G (p.Ala588Gly)
3	g.122284305C>T	CA354159608	CASR	c.2120C>T (p.Ala707Val) c.2381C>T (p.Ala794Val) c.2351C>T (p.Ala784Val) c.1868C>T (p.Ala623Val) c.1763C>T (p.Ala588Val)
3	g.122284306T>A	CA435425104	CASR	c.2121T>A (p.Ala707=) c.2382T>A (p.Ala794=) c.2352T>A (p.Ala784=) c.1869T>A (p.Ala623=) c.1764T>A (p.Ala588=)	dbSNP
3	g.122284306T>C	CA435425105	CASR	c.2121T>C (p.Ala707=) c.2382T>C (p.Ala794=) c.2352T>C (p.Ala784=) c.1869T>C (p.Ala623=) c.1764T>C (p.Ala588=)
3	g.122284306T>G	CA435425107	CASR	c.2121T>G (p.Ala707=) c.2382T>G (p.Ala794=) c.2352T>G (p.Ala784=) c.1869T>G (p.Ala623=) c.1764T>G (p.Ala588=)	ClinVar
3	g.122284307G>A	CA354159609	CASR	c.2122G>A (p.Ala708Thr) c.2383G>A (p.Ala795Thr) c.2353G>A (p.Ala785Thr) c.1870G>A (p.Ala624Thr) c.1765G>A (p.Ala589Thr)
3	g.122284307G>C	CA354159610	CASR	c.2122G>C (p.Ala708Pro) c.2383G>C (p.Ala795Pro) c.2353G>C (p.Ala785Pro) c.1870G>C (p.Ala624Pro) c.1765G>C (p.Ala589Pro)
3	g.122284307G>T	CA354159611	CASR	c.2122G>T (p.Ala708Ser) c.2383G>T (p.Ala795Ser) c.2353G>T (p.Ala785Ser) c.1870G>T (p.Ala624Ser) c.1765G>T (p.Ala589Ser)
3	g.122284308C>A	CA354159612	CASR	c.2123C>A (p.Ala708Asp) c.2384C>A (p.Ala795Asp) c.2354C>A (p.Ala785Asp) c.1871C>A (p.Ala624Asp) c.1766C>A (p.Ala589Asp)
3	g.122284308C>G	CA354159614	CASR	c.2123C>G (p.Ala708Gly) c.2384C>G (p.Ala795Gly) c.2354C>G (p.Ala785Gly) c.1871C>G (p.Ala624Gly) c.1766C>G (p.Ala589Gly)
3	g.122284308C>T	CA354159613	CASR	c.2123C>T (p.Ala708Val) c.2384C>T (p.Ala795Val) c.2354C>T (p.Ala785Val) c.1871C>T (p.Ala624Val) c.1766C>T (p.Ala589Val)
3	g.122284309C>A	CA435425111	CASR	c.2124C>A (p.Ala708=) c.2385C>A (p.Ala795=) c.2355C>A (p.Ala785=) c.1872C>A (p.Ala624=) c.1767C>A (p.Ala589=)
3	g.122284309C=	CA1397872160	CASR	c.2124C= (p.Ala708=) c.2385C= (p.Ala795=) c.2355C= (p.Ala785=) c.1872C= (p.Ala624=) c.1767C= (p.Ala589=)
3	g.122284309C>G	CA435425112	CASR	c.2124C>G (p.Ala708=) c.2385C>G (p.Ala795=) c.2355C>G (p.Ala785=) c.1872C>G (p.Ala624=) c.1767C>G (p.Ala589=)
3	g.122284309C>T	CA435425113	CASR	c.2124C>T (p.Ala708=) c.2385C>T (p.Ala795=) c.2355C>T (p.Ala785=) c.1872C>T (p.Ala624=) c.1767C>T (p.Ala589=)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284310A=	CA1397872165	CASR	c.2125A= (p.Ile709=) c.2386A= (p.Ile796=) c.2356A= (p.Ile786=) c.1873A= (p.Ile625=) c.1768A= (p.Ile590=)
3	g.122284310A>C	CA354159615	CASR	c.2125A>C (p.Ile709Leu) c.2386A>C (p.Ile796Leu) c.2356A>C (p.Ile786Leu) c.1873A>C (p.Ile625Leu) c.1768A>C (p.Ile590Leu)
3	g.122284310A>G	CA2569819	CASR	c.2125A>G (p.Ile709Val) c.2386A>G (p.Ile796Val) c.2356A>G (p.Ile786Val) c.1873A>G (p.Ile625Val) c.1768A>G (p.Ile590Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284310A>T	CA354159616	CASR	c.2125A>T (p.Ile709Phe) c.2386A>T (p.Ile796Phe) c.2356A>T (p.Ile786Phe) c.1873A>T (p.Ile625Phe) c.1768A>T (p.Ile590Phe)
3	g.122284311T>A	CA354159617	CASR	c.2126T>A (p.Ile709Asn) c.2387T>A (p.Ile796Asn) c.2357T>A (p.Ile786Asn) c.1874T>A (p.Ile625Asn) c.1769T>A (p.Ile590Asn)
3	g.122284311T>C	CA354159618	CASR	c.2126T>C (p.Ile709Thr) c.2387T>C (p.Ile796Thr) c.2357T>C (p.Ile786Thr) c.1874T>C (p.Ile625Thr) c.1769T>C (p.Ile590Thr)	gnomAD v4
3	g.122284311T>G	CA354159619	CASR	c.2126T>G (p.Ile709Ser) c.2387T>G (p.Ile796Ser) c.2357T>G (p.Ile786Ser) c.1874T>G (p.Ile625Ser) c.1769T>G (p.Ile590Ser)
3	g.122284312C>A	CA435425115	CASR	c.2127C>A (p.Ile709=) c.2388C>A (p.Ile796=) c.2358C>A (p.Ile786=) c.1875C>A (p.Ile625=) c.1770C>A (p.Ile590=)	COSMIC
3	g.122284312C>G	CA354159620	CASR	c.2127C>G (p.Ile709Met) c.2388C>G (p.Ile796Met) c.2358C>G (p.Ile786Met) c.1875C>G (p.Ile625Met) c.1770C>G (p.Ile590Met)	COSMIC
3	g.122284312C>T	CA435425117	CASR	c.2127C>T (p.Ile709=) c.2388C>T (p.Ile796=) c.2358C>T (p.Ile786=) c.1875C>T (p.Ile625=) c.1770C>T (p.Ile590=)	ClinVar dbSNP
3	g.122284313T>A	CA354159621	CASR	c.2128T>A (p.Cys710Ser) c.2389T>A (p.Cys797Ser) c.2359T>A (p.Cys787Ser) c.1876T>A (p.Cys626Ser) c.1771T>A (p.Cys591Ser)
3	g.122284313T>C	CA354159622	CASR	c.2128T>C (p.Cys710Arg) c.2389T>C (p.Cys797Arg) c.2359T>C (p.Cys787Arg) c.1876T>C (p.Cys626Arg) c.1771T>C (p.Cys591Arg)
3	g.122284313T>G	CA354159623	CASR	c.2128T>G (p.Cys710Gly) c.2389T>G (p.Cys797Gly) c.2359T>G (p.Cys787Gly) c.1876T>G (p.Cys626Gly) c.1771T>G (p.Cys591Gly)
3	g.122284314G>A	CA354159624	CASR	c.2129G>A (p.Cys710Tyr) c.2390G>A (p.Cys797Tyr) c.2360G>A (p.Cys787Tyr) c.1877G>A (p.Cys626Tyr) c.1772G>A (p.Cys591Tyr)	ClinVar
3	g.122284314G>C	CA354159626	CASR	c.2129G>C (p.Cys710Ser) c.2390G>C (p.Cys797Ser) c.2360G>C (p.Cys787Ser) c.1877G>C (p.Cys626Ser) c.1772G>C (p.Cys591Ser)
3	g.122284314G>T	CA354159625	CASR	c.2129G>T (p.Cys710Phe) c.2390G>T (p.Cys797Phe) c.2360G>T (p.Cys787Phe) c.1877G>T (p.Cys626Phe) c.1772G>T (p.Cys591Phe)
3	g.122284315C>A	CA354159627	CASR	c.2130C>A (p.Cys710Ter) c.2391C>A (p.Cys797Ter) c.2361C>A (p.Cys787Ter) c.1878C>A (p.Cys626Ter) c.1773C>A (p.Cys591Ter)
3	g.122284315C=	CA1397872169	CASR	c.2130C= (p.Cys710=) c.2391C= (p.Cys797=) c.2361C= (p.Cys787=) c.1878C= (p.Cys626=) c.1773C= (p.Cys591=)
3	g.122284315C>G	CA354159628	CASR	c.2130C>G (p.Cys710Trp) c.2391C>G (p.Cys797Trp) c.2361C>G (p.Cys787Trp) c.1878C>G (p.Cys626Trp) c.1773C>G (p.Cys591Trp)
3	g.122284315C>T	CA435425124	CASR	c.2130C>T (p.Cys710=) c.2391C>T (p.Cys797=) c.2361C>T (p.Cys787=) c.1878C>T (p.Cys626=) c.1773C>T (p.Cys591=)	ClinVar dbSNP gnomAD v4
3	g.122284321_122284323del	CA2508817364	CASR	c.2136_2138del (p.Phe713del) c.2397_2399del (p.Phe800del) c.2367_2369del (p.Phe790del) c.1884_1886del (p.Phe629del) c.1779_1781del (p.Phe594del)
3	g.122284316T>A	CA354159629	CASR	c.2131T>A (p.Phe711Ile) c.2392T>A (p.Phe798Ile) c.2362T>A (p.Phe788Ile) c.1879T>A (p.Phe627Ile) c.1774T>A (p.Phe592Ile)
3	g.122284316T>C	CA119529	CASR	c.2131T>C (p.Phe711Leu) c.2392T>C (p.Phe798Leu) c.2362T>C (p.Phe788Leu) c.1879T>C (p.Phe627Leu) c.1774T>C (p.Phe592Leu)	ClinVar dbSNP
3	g.122284316T>G	CA354159630	CASR	c.2131T>G (p.Phe711Val) c.2392T>G (p.Phe798Val) c.2362T>G (p.Phe788Val) c.1879T>G (p.Phe627Val) c.1774T>G (p.Phe592Val)
3	g.122284316T=	CA1397872174	CASR	c.2131T= (p.Phe711=) c.2392T= (p.Phe798=) c.2362T= (p.Phe788=) c.1879T= (p.Phe627=) c.1774T= (p.Phe592=)
3	g.122284317T>A	CA354159631	CASR	c.2132T>A (p.Phe711Tyr) c.2393T>A (p.Phe798Tyr) c.2363T>A (p.Phe788Tyr) c.1880T>A (p.Phe627Tyr) c.1775T>A (p.Phe592Tyr)	COSMIC
3	g.122284317T>C	CA354159632	CASR	c.2132T>C (p.Phe711Ser) c.2393T>C (p.Phe798Ser) c.2363T>C (p.Phe788Ser) c.1880T>C (p.Phe627Ser) c.1775T>C (p.Phe592Ser)	ClinVar dbSNP
3	g.122284317T>G	CA119509	CASR	c.2132T>G (p.Phe711Cys) c.2393T>G (p.Phe798Cys) c.2363T>G (p.Phe788Cys) c.1880T>G (p.Phe627Cys) c.1775T>G (p.Phe592Cys)	ClinVar dbSNP
3	g.122284317T=	CA1397872183	CASR	c.2132T= (p.Phe711=) c.2393T= (p.Phe798=) c.2363T= (p.Phe788=) c.1880T= (p.Phe627=) c.1775T= (p.Phe592=)
3	g.122284318del	CA2580618220	CASR	c.2133del (p.Phe712SerfsTer?) c.2394del (p.Phe799SerfsTer?) c.2364del (p.Phe789SerfsTer?) c.1881del (p.Phe628SerfsTer?) c.1776del (p.Phe593SerfsTer?)
3	g.122284318C>A	CA354159633	CASR	c.2133C>A (p.Phe711Leu) c.2394C>A (p.Phe798Leu) c.2364C>A (p.Phe788Leu) c.1881C>A (p.Phe627Leu) c.1776C>A (p.Phe592Leu)
3	g.122284318C=	CA1397872186	CASR	c.2133C= (p.Phe711=) c.2394C= (p.Phe798=) c.2364C= (p.Phe788=) c.1881C= (p.Phe627=) c.1776C= (p.Phe592=)
3	g.122284318C>G	CA10602865	CASR	c.2133C>G (p.Phe711Leu) c.2394C>G (p.Phe798Leu) c.2364C>G (p.Phe788Leu) c.1881C>G (p.Phe627Leu) c.1776C>G (p.Phe592Leu)	ClinVar dbSNP
3	g.122284318C>T	CA435425128	CASR	c.2133C>T (p.Phe711=) c.2394C>T (p.Phe798=) c.2364C>T (p.Phe788=) c.1881C>T (p.Phe627=) c.1776C>T (p.Phe592=)
3	g.122284319T>A	CA354159634	CASR	c.2134T>A (p.Phe712Ile) c.2395T>A (p.Phe799Ile) c.2365T>A (p.Phe789Ile) c.1882T>A (p.Phe628Ile) c.1777T>A (p.Phe593Ile)
3	g.122284319T>C	CA354159635	CASR	c.2134T>C (p.Phe712Leu) c.2395T>C (p.Phe799Leu) c.2365T>C (p.Phe789Leu) c.1882T>C (p.Phe628Leu) c.1777T>C (p.Phe593Leu)
3	g.122284319T>G	CA354159636	CASR	c.2134T>G (p.Phe712Val) c.2395T>G (p.Phe799Val) c.2365T>G (p.Phe789Val) c.1882T>G (p.Phe628Val) c.1777T>G (p.Phe593Val)
3	g.122284320T>A	CA354159637	CASR	c.2135T>A (p.Phe712Tyr) c.2396T>A (p.Phe799Tyr) c.2366T>A (p.Phe789Tyr) c.1883T>A (p.Phe628Tyr) c.1778T>A (p.Phe593Tyr)
3	g.122284320T>C	CA354159638	CASR	c.2135T>C (p.Phe712Ser) c.2396T>C (p.Phe799Ser) c.2366T>C (p.Phe789Ser) c.1883T>C (p.Phe628Ser) c.1778T>C (p.Phe593Ser)	ClinVar gnomAD v4
3	g.122284320T>G	CA354159639	CASR	c.2135T>G (p.Phe712Cys) c.2396T>G (p.Phe799Cys) c.2366T>G (p.Phe789Cys) c.1883T>G (p.Phe628Cys) c.1778T>G (p.Phe593Cys)
3	g.122284321C>A	CA354159641	CASR	c.2136C>A (p.Phe712Leu) c.2397C>A (p.Phe799Leu) c.2367C>A (p.Phe789Leu) c.1884C>A (p.Phe628Leu) c.1779C>A (p.Phe593Leu)
3	g.122284321C>G	CA354159640	CASR	c.2136C>G (p.Phe712Leu) c.2397C>G (p.Phe799Leu) c.2367C>G (p.Phe789Leu) c.1884C>G (p.Phe628Leu) c.1779C>G (p.Phe593Leu)	gnomAD v4
3	g.122284321C>T	CA435425134	CASR	c.2136C>T (p.Phe712=) c.2397C>T (p.Phe799=) c.2367C>T (p.Phe789=) c.1884C>T (p.Phe628=) c.1779C>T (p.Phe593=)
3	g.122284322T>A	CA354159642	CASR	c.2137T>A (p.Phe713Ile) c.2398T>A (p.Phe800Ile) c.2368T>A (p.Phe790Ile) c.1885T>A (p.Phe629Ile) c.1780T>A (p.Phe594Ile)
3	g.122284322T>C	CA354159643	CASR	c.2137T>C (p.Phe713Leu) c.2398T>C (p.Phe800Leu) c.2368T>C (p.Phe790Leu) c.1885T>C (p.Phe629Leu) c.1780T>C (p.Phe594Leu)	ClinVar
3	g.122284322T>G	CA354159644	CASR	c.2137T>G (p.Phe713Val) c.2398T>G (p.Phe800Val) c.2368T>G (p.Phe790Val) c.1885T>G (p.Phe629Val) c.1780T>G (p.Phe594Val)
3	g.122284323T>A	CA354159645	CASR	c.2138T>A (p.Phe713Tyr) c.2399T>A (p.Phe800Tyr) c.2369T>A (p.Phe790Tyr) c.1886T>A (p.Phe629Tyr) c.1781T>A (p.Phe594Tyr)
3	g.122284323T>C	CA354159646	CASR	c.2138T>C (p.Phe713Ser) c.2399T>C (p.Phe800Ser) c.2369T>C (p.Phe790Ser) c.1886T>C (p.Phe629Ser) c.1781T>C (p.Phe594Ser)
3	g.122284323T>G	CA354159647	CASR	c.2138T>G (p.Phe713Cys) c.2399T>G (p.Phe800Cys) c.2369T>G (p.Phe790Cys) c.1886T>G (p.Phe629Cys) c.1781T>G (p.Phe594Cys)	ClinVar
3	g.122284324T>A	CA354159648	CASR	c.2139T>A (p.Phe713Leu) c.2400T>A (p.Phe800Leu) c.2370T>A (p.Phe790Leu) c.1887T>A (p.Phe629Leu) c.1782T>A (p.Phe594Leu)
3	g.122284324T>C	CA435425141	CASR	c.2139T>C (p.Phe713=) c.2400T>C (p.Phe800=) c.2370T>C (p.Phe790=) c.1887T>C (p.Phe629=) c.1782T>C (p.Phe594=)	ClinVar
3	g.122284324T>G	CA354159649	CASR	c.2139T>G (p.Phe713Leu) c.2400T>G (p.Phe800Leu) c.2370T>G (p.Phe790Leu) c.1887T>G (p.Phe629Leu) c.1782T>G (p.Phe594Leu)	ClinVar
3	g.122284325G>A	CA354159650	CASR	c.2140G>A (p.Ala714Thr) c.2401G>A (p.Ala801Thr) c.2371G>A (p.Ala791Thr) c.1888G>A (p.Ala630Thr) c.1783G>A (p.Ala595Thr)	ClinVar dbSNP
3	g.122284325G>C	CA354159651	CASR	c.2140G>C (p.Ala714Pro) c.2401G>C (p.Ala801Pro) c.2371G>C (p.Ala791Pro) c.1888G>C (p.Ala630Pro) c.1783G>C (p.Ala595Pro)
3	g.122284325G>T	CA354159652	CASR	c.2140G>T (p.Ala714Ser) c.2401G>T (p.Ala801Ser) c.2371G>T (p.Ala791Ser) c.1888G>T (p.Ala630Ser) c.1783G>T (p.Ala595Ser)	gnomAD v4
3	g.122284326C>A	CA354159655	CASR	c.2141C>A (p.Ala714Asp) c.2402C>A (p.Ala801Asp) c.2372C>A (p.Ala791Asp) c.1889C>A (p.Ala630Asp) c.1784C>A (p.Ala595Asp)	COSMIC
3	g.122284326C>G	CA354159654	CASR	c.2141C>G (p.Ala714Gly) c.2402C>G (p.Ala801Gly) c.2372C>G (p.Ala791Gly) c.1889C>G (p.Ala630Gly) c.1784C>G (p.Ala595Gly)
3	g.122284326C>T	CA354159653	CASR	c.2141C>T (p.Ala714Val) c.2402C>T (p.Ala801Val) c.2372C>T (p.Ala791Val) c.1889C>T (p.Ala630Val) c.1784C>T (p.Ala595Val)	ClinVar gnomAD v4
3	g.122284327C>A	CA435425145	CASR	c.2142C>A (p.Ala714=) c.2403C>A (p.Ala801=) c.2373C>A (p.Ala791=) c.1890C>A (p.Ala630=) c.1785C>A (p.Ala595=)
3	g.122284327C=	CA1397872190	CASR	c.2142C= (p.Ala714=) c.2403C= (p.Ala801=) c.2373C= (p.Ala791=) c.1890C= (p.Ala630=) c.1785C= (p.Ala595=)
3	g.122284327C>G	CA435425146	CASR	c.2142C>G (p.Ala714=) c.2403C>G (p.Ala801=) c.2373C>G (p.Ala791=) c.1890C>G (p.Ala630=) c.1785C>G (p.Ala595=)
3	g.122284327C>T	CA435425148	CASR	c.2142C>T (p.Ala714=) c.2403C>T (p.Ala801=) c.2373C>T (p.Ala791=) c.1890C>T (p.Ala630=) c.1785C>T (p.Ala595=)	ClinVar dbSNP
3	g.122284328T>A	CA354159656	CASR	c.2143T>A (p.Phe715Ile) c.2404T>A (p.Phe802Ile) c.2374T>A (p.Phe792Ile) c.1891T>A (p.Phe631Ile) c.1786T>A (p.Phe596Ile)
3	g.122284328T>C	CA354159657	CASR	c.2143T>C (p.Phe715Leu) c.2404T>C (p.Phe802Leu) c.2374T>C (p.Phe792Leu) c.1891T>C (p.Phe631Leu) c.1786T>C (p.Phe596Leu)
3	g.122284328T>G	CA354159658	CASR	c.2143T>G (p.Phe715Val) c.2404T>G (p.Phe802Val) c.2374T>G (p.Phe792Val) c.1891T>G (p.Phe631Val) c.1786T>G (p.Phe596Val)
3	g.122284329T>A	CA354159659	CASR	c.2144T>A (p.Phe715Tyr) c.2405T>A (p.Phe802Tyr) c.2375T>A (p.Phe792Tyr) c.1892T>A (p.Phe631Tyr) c.1787T>A (p.Phe596Tyr)
3	g.122284329T>C	CA354159660	CASR	c.2144T>C (p.Phe715Ser) c.2405T>C (p.Phe802Ser) c.2375T>C (p.Phe792Ser) c.1892T>C (p.Phe631Ser) c.1787T>C (p.Phe596Ser)
3	g.122284329T>G	CA354159661	CASR	c.2144T>G (p.Phe715Cys) c.2405T>G (p.Phe802Cys) c.2375T>G (p.Phe792Cys) c.1892T>G (p.Phe631Cys) c.1787T>G (p.Phe596Cys)
3	g.122284330C>A	CA354159662	CASR	c.2145C>A (p.Phe715Leu) c.2406C>A (p.Phe802Leu) c.2376C>A (p.Phe792Leu) c.1893C>A (p.Phe631Leu) c.1788C>A (p.Phe596Leu)
3	g.122284330C=	CA1397872196	CASR	c.2145C= (p.Phe715=) c.2406C= (p.Phe802=) c.2376C= (p.Phe792=) c.1893C= (p.Phe631=) c.1788C= (p.Phe596=)
3	g.122284330C>G	CA354159663	CASR	c.2145C>G (p.Phe715Leu) c.2406C>G (p.Phe802Leu) c.2376C>G (p.Phe792Leu) c.1893C>G (p.Phe631Leu) c.1788C>G (p.Phe596Leu)
3	g.122284330C>T	CA435425150	CASR	c.2145C>T (p.Phe715=) c.2406C>T (p.Phe802=) c.2376C>T (p.Phe792=) c.1893C>T (p.Phe631=) c.1788C>T (p.Phe596=)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284331A>C	CA354159664	CASR	c.2146A>C (p.Lys716Gln) c.2407A>C (p.Lys803Gln) c.2377A>C (p.Lys793Gln) c.1894A>C (p.Lys632Gln) c.1789A>C (p.Lys597Gln)
3	g.122284331A>G	CA354159665	CASR	c.2146A>G (p.Lys716Glu) c.2407A>G (p.Lys803Glu) c.2377A>G (p.Lys793Glu) c.1894A>G (p.Lys632Glu) c.1789A>G (p.Lys597Glu)
3	g.122284331A>T	CA354159666	CASR	c.2146A>T (p.Lys716Ter) c.2407A>T (p.Lys803Ter) c.2377A>T (p.Lys793Ter) c.1894A>T (p.Lys632Ter) c.1789A>T (p.Lys597Ter)
3	g.122284332A>C	CA354159669	CASR	c.2147A>C (p.Lys716Thr) c.2408A>C (p.Lys803Thr) c.2378A>C (p.Lys793Thr) c.1895A>C (p.Lys632Thr) c.1790A>C (p.Lys597Thr)
3	g.122284332A>G	CA354159668	CASR	c.2147A>G (p.Lys716Arg) c.2408A>G (p.Lys803Arg) c.2378A>G (p.Lys793Arg) c.1895A>G (p.Lys632Arg) c.1790A>G (p.Lys597Arg)
3	g.122284332A>T	CA354159667	CASR	c.2147A>T (p.Lys716Met) c.2408A>T (p.Lys803Met) c.2378A>T (p.Lys793Met) c.1895A>T (p.Lys632Met) c.1790A>T (p.Lys597Met)	ClinVar
3	g.122284333G>A	CA435425151	CASR	c.2148G>A (p.Lys716=) c.2409G>A (p.Lys803=) c.2379G>A (p.Lys793=) c.1896G>A (p.Lys632=) c.1791G>A (p.Lys597=)	ClinVar dbSNP
3	g.122284333G>C	CA354159670	CASR	c.2148G>C (p.Lys716Asn) c.2409G>C (p.Lys803Asn) c.2379G>C (p.Lys793Asn) c.1896G>C (p.Lys632Asn) c.1791G>C (p.Lys597Asn)
3	g.122284333G>T	CA354159671	CASR	c.2148G>T (p.Lys716Asn) c.2409G>T (p.Lys803Asn) c.2379G>T (p.Lys793Asn) c.1896G>T (p.Lys632Asn) c.1791G>T (p.Lys597Asn)
3	g.122284334T>A	CA354159672	CASR	c.2149T>A (p.Ser717Thr) c.2410T>A (p.Ser804Thr) c.2380T>A (p.Ser794Thr) c.1897T>A (p.Ser633Thr) c.1792T>A (p.Ser598Thr)
3	g.122284334T>C	CA354159673	CASR	c.2149T>C (p.Ser717Pro) c.2410T>C (p.Ser804Pro) c.2380T>C (p.Ser794Pro) c.1897T>C (p.Ser633Pro) c.1792T>C (p.Ser598Pro)
3	g.122284334T>G	CA354159674	CASR	c.2149T>G (p.Ser717Ala) c.2410T>G (p.Ser804Ala) c.2380T>G (p.Ser794Ala) c.1897T>G (p.Ser633Ala) c.1792T>G (p.Ser598Ala)	ClinVar
3	g.122284335C>A	CA354159675	CASR	c.2150C>A (p.Ser717Tyr) c.2411C>A (p.Ser804Tyr) c.2381C>A (p.Ser794Tyr) c.1898C>A (p.Ser633Tyr) c.1793C>A (p.Ser598Tyr)
3	g.122284335C>G	CA354159676	CASR	c.2150C>G (p.Ser717Cys) c.2411C>G (p.Ser804Cys) c.2381C>G (p.Ser794Cys) c.1898C>G (p.Ser633Cys) c.1793C>G (p.Ser598Cys)
3	g.122284335C>T	CA354159677	CASR	c.2150C>T (p.Ser717Phe) c.2411C>T (p.Ser804Phe) c.2381C>T (p.Ser794Phe) c.1898C>T (p.Ser633Phe) c.1793C>T (p.Ser598Phe)	gnomAD v4
3	g.122284337del	CA2580068645	CASR	c.2152del (p.Arg718GlyfsTer?) c.2413del (p.Arg805GlyfsTer?) c.2383del (p.Arg795GlyfsTer?) c.1900del (p.Arg634GlyfsTer?) c.1795del (p.Arg599GlyfsTer?)	ClinVar dbSNP
3	g.122284336C>A	CA435425153	CASR	c.2151C>A (p.Ser717=) c.2412C>A (p.Ser804=) c.2382C>A (p.Ser794=) c.1899C>A (p.Ser633=) c.1794C>A (p.Ser598=)
3	g.122284336C>G	CA435425154	CASR	c.2151C>G (p.Ser717=) c.2412C>G (p.Ser804=) c.2382C>G (p.Ser794=) c.1899C>G (p.Ser633=) c.1794C>G (p.Ser598=)
3	g.122284336C>T	CA435425156	CASR	c.2151C>T (p.Ser717=) c.2412C>T (p.Ser804=) c.2382C>T (p.Ser794=) c.1899C>T (p.Ser633=) c.1794C>T (p.Ser598=)	ClinVar
3	g.122284337C>A	CA435425159	CASR	c.2152C>A (p.Arg718=) c.2413C>A (p.Arg805=) c.2383C>A (p.Arg795=) c.1900C>A (p.Arg634=) c.1795C>A (p.Arg599=)	gnomAD v4
3	g.122284337C=	CA1397872200	CASR	c.2152C= (p.Arg718=) c.2413C= (p.Arg805=) c.2383C= (p.Arg795=) c.1900C= (p.Arg634=) c.1795C= (p.Arg599=)
3	g.122284337C>G	CA354159678	CASR	c.2152C>G (p.Arg718Gly) c.2413C>G (p.Arg805Gly) c.2383C>G (p.Arg795Gly) c.1900C>G (p.Arg634Gly) c.1795C>G (p.Arg599Gly)	ClinVar dbSNP
3	g.122284337C>T	CA119467	CASR	c.2152C>T (p.Arg718Trp) c.2413C>T (p.Arg805Trp) c.2383C>T (p.Arg795Trp) c.1900C>T (p.Arg634Trp) c.1795C>T (p.Arg599Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284338G>A	CA82748943	CASR	c.2153G>A (p.Arg718Gln) c.2414G>A (p.Arg805Gln) c.2384G>A (p.Arg795Gln) c.1901G>A (p.Arg634Gln) c.1796G>A (p.Arg599Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3	g.122284338G>C	CA354159679	CASR	c.2153G>C (p.Arg718Pro) c.2414G>C (p.Arg805Pro) c.2384G>C (p.Arg795Pro) c.1901G>C (p.Arg634Pro) c.1796G>C (p.Arg599Pro)	ClinVar
3	g.122284338G=	CA1397872205	CASR	c.2153G= (p.Arg718=) c.2414G= (p.Arg805=) c.2384G= (p.Arg795=) c.1901G= (p.Arg634=) c.1796G= (p.Arg599=)
3	g.122284338G>T	CA354159680	CASR	c.2153G>T (p.Arg718Leu) c.2414G>T (p.Arg805Leu) c.2384G>T (p.Arg795Leu) c.1901G>T (p.Arg634Leu) c.1796G>T (p.Arg599Leu)	ClinVar dbSNP
3	g.122284339G>A	CA435425160	CASR	c.2154G>A (p.Arg718=) c.2415G>A (p.Arg805=) c.2385G>A (p.Arg795=) c.1902G>A (p.Arg634=) c.1797G>A (p.Arg599=)	dbSNP
3	g.122284339G>C	CA435425161	CASR	c.2154G>C (p.Arg718=) c.2415G>C (p.Arg805=) c.2385G>C (p.Arg795=) c.1902G>C (p.Arg634=) c.1797G>C (p.Arg599=)
3	g.122284339G=	CA1397872209	CASR	c.2154G= (p.Arg718=) c.2415G= (p.Arg805=) c.2385G= (p.Arg795=) c.1902G= (p.Arg634=) c.1797G= (p.Arg599=)
3	g.122284339G>T	CA435425163	CASR	c.2154G>T (p.Arg718=) c.2415G>T (p.Arg805=) c.2385G>T (p.Arg795=) c.1902G>T (p.Arg634=) c.1797G>T (p.Arg599=)
3	g.122284340A>C	CA354159682	CASR	c.2155A>C (p.Lys719Gln) c.2416A>C (p.Lys806Gln) c.2386A>C (p.Lys796Gln) c.1903A>C (p.Lys635Gln) c.1798A>C (p.Lys600Gln)
3	g.122284340A>G	CA354159683	CASR	c.2155A>G (p.Lys719Glu) c.2416A>G (p.Lys806Glu) c.2386A>G (p.Lys796Glu) c.1903A>G (p.Lys635Glu) c.1798A>G (p.Lys600Glu)	dbSNP gnomAD v3 gnomAD v4
3	g.122284340A>T	CA354159681	CASR	c.2155A>T (p.Lys719Ter) c.2416A>T (p.Lys806Ter) c.2386A>T (p.Lys796Ter) c.1903A>T (p.Lys635Ter) c.1798A>T (p.Lys600Ter)	COSMIC
3	g.122284341A>C	CA354159686	CASR	c.2156A>C (p.Lys719Thr) c.2417A>C (p.Lys806Thr) c.2387A>C (p.Lys796Thr) c.1904A>C (p.Lys635Thr) c.1799A>C (p.Lys600Thr)
3	g.122284341A>G	CA354159684	CASR	c.2156A>G (p.Lys719Arg) c.2417A>G (p.Lys806Arg) c.2387A>G (p.Lys796Arg) c.1904A>G (p.Lys635Arg) c.1799A>G (p.Lys600Arg)
3	g.122284341A>T	CA354159685	CASR	c.2156A>T (p.Lys719Met) c.2417A>T (p.Lys806Met) c.2387A>T (p.Lys796Met) c.1904A>T (p.Lys635Met) c.1799A>T (p.Lys600Met)
3	g.122284342G>A	CA2569820	CASR	c.2157G>A (p.Lys719=) c.2418G>A (p.Lys806=) c.2388G>A (p.Lys796=) c.1905G>A (p.Lys635=) c.1800G>A (p.Lys600=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284342G>C	CA354159687	CASR	c.2157G>C (p.Lys719Asn) c.2418G>C (p.Lys806Asn) c.2388G>C (p.Lys796Asn) c.1905G>C (p.Lys635Asn) c.1800G>C (p.Lys600Asn)
3	g.122284342G=	CA1397872216	CASR	c.2157G= (p.Lys719=) c.2418G= (p.Lys806=) c.2388G= (p.Lys796=) c.1905G= (p.Lys635=) c.1800G= (p.Lys600=)
3	g.122284342G>T	CA354159688	CASR	c.2157G>T (p.Lys719Asn) c.2418G>T (p.Lys806Asn) c.2388G>T (p.Lys796Asn) c.1905G>T (p.Lys635Asn) c.1800G>T (p.Lys600Asn)
3	g.122284343C>A	CA354159689	CASR	c.2158C>A (p.Leu720Met) c.2419C>A (p.Leu807Met) c.2389C>A (p.Leu797Met) c.1906C>A (p.Leu636Met) c.1801C>A (p.Leu601Met)	ClinVar dbSNP
3	g.122284343C=	CA1397872218	CASR	c.2158C= (p.Leu720=) c.2419C= (p.Leu807=) c.2389C= (p.Leu797=) c.1906C= (p.Leu636=) c.1801C= (p.Leu601=)
3	g.122284343C>G	CA354159690	CASR	c.2158C>G (p.Leu720Val) c.2419C>G (p.Leu807Val) c.2389C>G (p.Leu797Val) c.1906C>G (p.Leu636Val) c.1801C>G (p.Leu601Val)
3	g.122284343C>T	CA82748950	CASR	c.2158C>T (p.Leu720=) c.2419C>T (p.Leu807=) c.2389C>T (p.Leu797=) c.1906C>T (p.Leu636=) c.1801C>T (p.Leu601=)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284344T>A	CA354159691	CASR	c.2159T>A (p.Leu720Gln) c.2420T>A (p.Leu807Gln) c.2390T>A (p.Leu797Gln) c.1907T>A (p.Leu636Gln) c.1802T>A (p.Leu601Gln)
3	g.122284344T>C	CA354159692	CASR	c.2159T>C (p.Leu720Pro) c.2420T>C (p.Leu807Pro) c.2390T>C (p.Leu797Pro) c.1907T>C (p.Leu636Pro) c.1802T>C (p.Leu601Pro)
3	g.122284344T>G	CA354159693	CASR	c.2159T>G (p.Leu720Arg) c.2420T>G (p.Leu807Arg) c.2390T>G (p.Leu797Arg) c.1907T>G (p.Leu636Arg) c.1802T>G (p.Leu601Arg)
3	g.122284345G>A	CA435425169	CASR	c.2160G>A (p.Leu720=) c.2421G>A (p.Leu807=) c.2391G>A (p.Leu797=) c.1908G>A (p.Leu636=) c.1803G>A (p.Leu601=)
3	g.122284345G>C	CA435425171	CASR	c.2160G>C (p.Leu720=) c.2421G>C (p.Leu807=) c.2391G>C (p.Leu797=) c.1908G>C (p.Leu636=) c.1803G>C (p.Leu601=)
3	g.122284345G=	CA1397872223	CASR	c.2160G= (p.Leu720=) c.2421G= (p.Leu807=) c.2391G= (p.Leu797=) c.1908G= (p.Leu636=) c.1803G= (p.Leu601=)
3	g.122284345G>T	CA435425170	CASR	c.2160G>T (p.Leu720=) c.2421G>T (p.Leu807=) c.2391G>T (p.Leu797=) c.1908G>T (p.Leu636=) c.1803G>T (p.Leu601=)	dbSNP gnomAD v2 gnomAD v4
3	g.122284346C>A	CA354159696	CASR	c.2161C>A (p.Pro721Thr) c.2422C>A (p.Pro808Thr) c.2392C>A (p.Pro798Thr) c.1909C>A (p.Pro637Thr) c.1804C>A (p.Pro602Thr)
3	g.122284346C=	CA1397872228	CASR	c.2161C= (p.Pro721=) c.2422C= (p.Pro808=) c.2392C= (p.Pro798=) c.1909C= (p.Pro637=) c.1804C= (p.Pro602=)
3	g.122284346C>G	CA354159695	CASR	c.2161C>G (p.Pro721Ala) c.2422C>G (p.Pro808Ala) c.2392C>G (p.Pro798Ala) c.1909C>G (p.Pro637Ala) c.1804C>G (p.Pro602Ala)
3	g.122284346C>T	CA354159694	CASR	c.2161C>T (p.Pro721Ser) c.2422C>T (p.Pro808Ser) c.2392C>T (p.Pro798Ser) c.1909C>T (p.Pro637Ser) c.1804C>T (p.Pro602Ser)	ClinVar dbSNP
3	g.122284347C>A	CA354159697	CASR	c.2162C>A (p.Pro721Gln) c.2423C>A (p.Pro808Gln) c.2393C>A (p.Pro798Gln) c.1910C>A (p.Pro637Gln) c.1805C>A (p.Pro602Gln)
3	g.122284347C=	CA1397872237	CASR	c.2162C= (p.Pro721=) c.2423C= (p.Pro808=) c.2393C= (p.Pro798=) c.1910C= (p.Pro637=) c.1805C= (p.Pro602=)
3	g.122284347C>G	CA354159698	CASR	c.2162C>G (p.Pro721Arg) c.2423C>G (p.Pro808Arg) c.2393C>G (p.Pro798Arg) c.1910C>G (p.Pro637Arg) c.1805C>G (p.Pro602Arg)	ClinVar dbSNP
3	g.122284347C>T	CA16611130	CASR	c.2162C>T (p.Pro721Leu) c.2423C>T (p.Pro808Leu) c.2393C>T (p.Pro798Leu) c.1910C>T (p.Pro637Leu) c.1805C>T (p.Pro602Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3	g.122284348G>A	CA435425176	CASR	c.2163G>A (p.Pro721=) c.2424G>A (p.Pro808=) c.2394G>A (p.Pro798=) c.1911G>A (p.Pro637=) c.1806G>A (p.Pro602=)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122284348G>C	CA435425179	CASR	c.2163G>C (p.Pro721=) c.2424G>C (p.Pro808=) c.2394G>C (p.Pro798=) c.1911G>C (p.Pro637=) c.1806G>C (p.Pro602=)
3	g.122284348G=	CA1397872245	CASR	c.2163G= (p.Pro721=) c.2424G= (p.Pro808=) c.2394G= (p.Pro798=) c.1911G= (p.Pro637=) c.1806G= (p.Pro602=)
3	g.122284348G>T	CA435425181	CASR	c.2163G>T (p.Pro721=) c.2424G>T (p.Pro808=) c.2394G>T (p.Pro798=) c.1911G>T (p.Pro637=) c.1806G>T (p.Pro602=)
3	g.122284349G>A	CA354159699	CASR	c.2164G>A (p.Glu722Lys) c.2425G>A (p.Glu809Lys) c.2395G>A (p.Glu799Lys) c.1912G>A (p.Glu638Lys) c.1807G>A (p.Glu603Lys)	COSMIC
3	g.122284349G>C	CA354159700	CASR	c.2164G>C (p.Glu722Gln) c.2425G>C (p.Glu809Gln) c.2395G>C (p.Glu799Gln) c.1912G>C (p.Glu638Gln) c.1807G>C (p.Glu603Gln)
3	g.122284349G>T	CA354159701	CASR	c.2164G>T (p.Glu722Ter) c.2425G>T (p.Glu809Ter) c.2395G>T (p.Glu799Ter) c.1912G>T (p.Glu638Ter) c.1807G>T (p.Glu603Ter)
3	g.122284350A>C	CA354159702	CASR	c.2165A>C (p.Glu722Ala) c.2426A>C (p.Glu809Ala) c.2396A>C (p.Glu799Ala) c.1913A>C (p.Glu638Ala) c.1808A>C (p.Glu603Ala)
3	g.122284350A>G	CA354159703	CASR	c.2165A>G (p.Glu722Gly) c.2426A>G (p.Glu809Gly) c.2396A>G (p.Glu799Gly) c.1913A>G (p.Glu638Gly) c.1808A>G (p.Glu603Gly)
3	g.122284350A>T	CA354159704	CASR	c.2165A>T (p.Glu722Val) c.2426A>T (p.Glu809Val) c.2396A>T (p.Glu799Val) c.1913A>T (p.Glu638Val) c.1808A>T (p.Glu603Val)
3	g.122284351G>A	CA2569821	CASR	c.2166G>A (p.Glu722=) c.2427G>A (p.Glu809=) c.2397G>A (p.Glu799=) c.1914G>A (p.Glu638=) c.1809G>A (p.Glu603=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284351G>C	CA354159705	CASR	c.2166G>C (p.Glu722Asp) c.2427G>C (p.Glu809Asp) c.2397G>C (p.Glu799Asp) c.1914G>C (p.Glu638Asp) c.1809G>C (p.Glu603Asp)	ClinVar dbSNP gnomAD v4
3	g.122284351G=	CA1397872247	CASR	c.2166G= (p.Glu722=) c.2427G= (p.Glu809=) c.2397G= (p.Glu799=) c.1914G= (p.Glu638=) c.1809G= (p.Glu603=)
3	g.122284351G>T	CA354159706	CASR	c.2166G>T (p.Glu722Asp) c.2427G>T (p.Glu809Asp) c.2397G>T (p.Glu799Asp) c.1914G>T (p.Glu638Asp) c.1809G>T (p.Glu603Asp)
3	g.122284352A>C	CA354159708	CASR	c.2167A>C (p.Asn723His) c.2428A>C (p.Asn810His) c.2398A>C (p.Asn800His) c.1915A>C (p.Asn639His) c.1810A>C (p.Asn604His)
3	g.122284352A>G	CA354159709	CASR	c.2167A>G (p.Asn723Asp) c.2428A>G (p.Asn810Asp) c.2398A>G (p.Asn800Asp) c.1915A>G (p.Asn639Asp) c.1810A>G (p.Asn604Asp)
3	g.122284352A>T	CA354159707	CASR	c.2167A>T (p.Asn723Tyr) c.2428A>T (p.Asn810Tyr) c.2398A>T (p.Asn800Tyr) c.1915A>T (p.Asn639Tyr) c.1810A>T (p.Asn604Tyr)
3	g.122284353A>C	CA354159710	CASR	c.2168A>C (p.Asn723Thr) c.2429A>C (p.Asn810Thr) c.2399A>C (p.Asn800Thr) c.1916A>C (p.Asn639Thr) c.1811A>C (p.Asn604Thr)
3	g.122284353A>G	CA354159711	CASR	c.2168A>G (p.Asn723Ser) c.2429A>G (p.Asn810Ser) c.2399A>G (p.Asn800Ser) c.1916A>G (p.Asn639Ser) c.1811A>G (p.Asn604Ser)
3	g.122284353A>T	CA354159712	CASR	c.2168A>T (p.Asn723Ile) c.2429A>T (p.Asn810Ile) c.2399A>T (p.Asn800Ile) c.1916A>T (p.Asn639Ile) c.1811A>T (p.Asn604Ile)
3	g.122284354C>A	CA354159713	CASR	c.2169C>A (p.Asn723Lys) c.2430C>A (p.Asn810Lys) c.2400C>A (p.Asn800Lys) c.1917C>A (p.Asn639Lys) c.1812C>A (p.Asn604Lys)
3	g.122284354C>G	CA354159714	CASR	c.2169C>G (p.Asn723Lys) c.2430C>G (p.Asn810Lys) c.2400C>G (p.Asn800Lys) c.1917C>G (p.Asn639Lys) c.1812C>G (p.Asn604Lys)
3	g.122284354C>T	CA435425191	CASR	c.2169C>T (p.Asn723=) c.2430C>T (p.Asn810=) c.2400C>T (p.Asn800=) c.1917C>T (p.Asn639=) c.1812C>T (p.Asn604=)	COSMIC
3	g.122284355T>A	CA354159715	CASR	c.2170T>A (p.Phe724Ile) c.2431T>A (p.Phe811Ile) c.2401T>A (p.Phe801Ile) c.1918T>A (p.Phe640Ile) c.1813T>A (p.Phe605Ile)
3	g.122284355T>C	CA354159716	CASR	c.2170T>C (p.Phe724Leu) c.2431T>C (p.Phe811Leu) c.2401T>C (p.Phe801Leu) c.1918T>C (p.Phe640Leu) c.1813T>C (p.Phe605Leu)
3	g.122284355T>G	CA354159717	CASR	c.2170T>G (p.Phe724Val) c.2431T>G (p.Phe811Val) c.2401T>G (p.Phe801Val) c.1918T>G (p.Phe640Val) c.1813T>G (p.Phe605Val)
3	g.122284356T>A	CA354159718	CASR	c.2171T>A (p.Phe724Tyr) c.2432T>A (p.Phe811Tyr) c.2402T>A (p.Phe801Tyr) c.1919T>A (p.Phe640Tyr) c.1814T>A (p.Phe605Tyr)	gnomAD v4
3	g.122284356T>C	CA354159719	CASR	c.2171T>C (p.Phe724Ser) c.2432T>C (p.Phe811Ser) c.2402T>C (p.Phe801Ser) c.1919T>C (p.Phe640Ser) c.1814T>C (p.Phe605Ser)
3	g.122284356T>G	CA354159720	CASR	c.2171T>G (p.Phe724Cys) c.2432T>G (p.Phe811Cys) c.2402T>G (p.Phe801Cys) c.1919T>G (p.Phe640Cys) c.1814T>G (p.Phe605Cys)
3	g.122284357C>A	CA354159721	CASR	c.2172C>A (p.Phe724Leu) c.2433C>A (p.Phe811Leu) c.2403C>A (p.Phe801Leu) c.1920C>A (p.Phe640Leu) c.1815C>A (p.Phe605Leu)
3	g.122284357C>G	CA354159722	CASR	c.2172C>G (p.Phe724Leu) c.2433C>G (p.Phe811Leu) c.2403C>G (p.Phe801Leu) c.1920C>G (p.Phe640Leu) c.1815C>G (p.Phe605Leu)
3	g.122284357C>T	CA435425196	CASR	c.2172C>T (p.Phe724=) c.2433C>T (p.Phe811=) c.2403C>T (p.Phe801=) c.1920C>T (p.Phe640=) c.1815C>T (p.Phe605=)
3	g.122284358A=	CA1397872251	CASR	c.2173A= (p.Asn725=) c.2434A= (p.Asn812=) c.2404A= (p.Asn802=) c.1921A= (p.Asn641=) c.1816A= (p.Asn606=)
3	g.122284358A>C	CA354159725	CASR	c.2173A>C (p.Asn725His) c.2434A>C (p.Asn812His) c.2404A>C (p.Asn802His) c.1921A>C (p.Asn641His) c.1816A>C (p.Asn606His)	ClinVar dbSNP
3	g.122284358A>G	CA354159724	CASR	c.2173A>G (p.Asn725Asp) c.2434A>G (p.Asn812Asp) c.2404A>G (p.Asn802Asp) c.1921A>G (p.Asn641Asp) c.1816A>G (p.Asn606Asp)	ClinVar dbSNP
3	g.122284358A>T	CA354159723	CASR	c.2173A>T (p.Asn725Tyr) c.2434A>T (p.Asn812Tyr) c.2404A>T (p.Asn802Tyr) c.1921A>T (p.Asn641Tyr) c.1816A>T (p.Asn606Tyr)
3	g.122284359A=	CA1397872256	CASR	c.2174A= (p.Asn725=) c.2435A= (p.Asn812=) c.2405A= (p.Asn802=) c.1922A= (p.Asn641=) c.1817A= (p.Asn606=)
3	g.122284359A>C	CA354159726	CASR	c.2174A>C (p.Asn725Thr) c.2435A>C (p.Asn812Thr) c.2405A>C (p.Asn802Thr) c.1922A>C (p.Asn641Thr) c.1817A>C (p.Asn606Thr)
3	g.122284359A>G	CA2569822	CASR	c.2174A>G (p.Asn725Ser) c.2435A>G (p.Asn812Ser) c.2405A>G (p.Asn802Ser) c.1922A>G (p.Asn641Ser) c.1817A>G (p.Asn606Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122284359A>T	CA354159727	CASR	c.2174A>T (p.Asn725Ile) c.2435A>T (p.Asn812Ile) c.2405A>T (p.Asn802Ile) c.1922A>T (p.Asn641Ile) c.1817A>T (p.Asn606Ile)
3	g.122284360T>A	CA354159728	CASR	c.2175T>A (p.Asn725Lys) c.2436T>A (p.Asn812Lys) c.2406T>A (p.Asn802Lys) c.1923T>A (p.Asn641Lys) c.1818T>A (p.Asn606Lys)
3	g.122284360T>C	CA435425199	CASR	c.2175T>C (p.Asn725=) c.2436T>C (p.Asn812=) c.2406T>C (p.Asn802=) c.1923T>C (p.Asn641=) c.1818T>C (p.Asn606=)	ClinVar COSMIC
3	g.122284360T>G	CA354159729	CASR	c.2175T>G (p.Asn725Lys) c.2436T>G (p.Asn812Lys) c.2406T>G (p.Asn802Lys) c.1923T>G (p.Asn641Lys) c.1818T>G (p.Asn606Lys)
3	g.122284361G>A	CA354159730	CASR	c.2176G>A (p.Glu726Lys) c.2437G>A (p.Glu813Lys) c.2407G>A (p.Glu803Lys) c.1924G>A (p.Glu642Lys) c.1819G>A (p.Glu607Lys)
3	g.122284361G>C	CA354159731	CASR	c.2176G>C (p.Glu726Gln) c.2437G>C (p.Glu813Gln) c.2407G>C (p.Glu803Gln) c.1924G>C (p.Glu642Gln) c.1819G>C (p.Glu607Gln)
3	g.122284361G>T	CA354159732	CASR	c.2176G>T (p.Glu726Ter) c.2437G>T (p.Glu813Ter) c.2407G>T (p.Glu803Ter) c.1924G>T (p.Glu642Ter) c.1819G>T (p.Glu607Ter)
3	g.122284362A>C	CA354159733	CASR	c.2177A>C (p.Glu726Ala) c.2438A>C (p.Glu813Ala) c.2408A>C (p.Glu803Ala) c.1925A>C (p.Glu642Ala) c.1820A>C (p.Glu607Ala)
3	g.122284362A>G	CA354159734	CASR	c.2177A>G (p.Glu726Gly) c.2438A>G (p.Glu813Gly) c.2408A>G (p.Glu803Gly) c.1925A>G (p.Glu642Gly) c.1820A>G (p.Glu607Gly)	gnomAD v4
3	g.122284362A>T	CA354159735	CASR	c.2177A>T (p.Glu726Val) c.2438A>T (p.Glu813Val) c.2408A>T (p.Glu803Val) c.1925A>T (p.Glu642Val) c.1820A>T (p.Glu607Val)
3	g.122284363A>C	CA354159736	CASR	c.2178A>C (p.Glu726Asp) c.2439A>C (p.Glu813Asp) c.2409A>C (p.Glu803Asp) c.1926A>C (p.Glu642Asp) c.1821A>C (p.Glu607Asp)
3	g.122284363A>G	CA435425207	CASR	c.2178A>G (p.Glu726=) c.2439A>G (p.Glu813=) c.2409A>G (p.Glu803=) c.1926A>G (p.Glu642=) c.1821A>G (p.Glu607=)	ClinVar
3	g.122284363A>T	CA354159737	CASR	c.2178A>T (p.Glu726Asp) c.2439A>T (p.Glu813Asp) c.2409A>T (p.Glu803Asp) c.1926A>T (p.Glu642Asp) c.1821A>T (p.Glu607Asp)
3	g.122284364G>A	CA354159739	CASR	c.2179G>A (p.Ala727Thr) c.2440G>A (p.Ala814Thr) c.2410G>A (p.Ala804Thr) c.1927G>A (p.Ala643Thr) c.1822G>A (p.Ala608Thr)	ClinVar dbSNP
3	g.122284364G>C	CA354159738	CASR	c.2179G>C (p.Ala727Pro) c.2440G>C (p.Ala814Pro) c.2410G>C (p.Ala804Pro) c.1927G>C (p.Ala643Pro) c.1822G>C (p.Ala608Pro)
3	g.122284364G=	CA1397872264	CASR	c.2179G= (p.Ala727=) c.2440G= (p.Ala814=) c.2410G= (p.Ala804=) c.1927G= (p.Ala643=) c.1822G= (p.Ala608=)
3	g.122284364G>T	CA2569823	CASR	c.2179G>T (p.Ala727Ser) c.2440G>T (p.Ala814Ser) c.2410G>T (p.Ala804Ser) c.1927G>T (p.Ala643Ser) c.1822G>T (p.Ala608Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122284365C>A	CA354159740	CASR	c.2180C>A (p.Ala727Asp) c.2441C>A (p.Ala814Asp) c.2411C>A (p.Ala804Asp) c.1928C>A (p.Ala643Asp) c.1823C>A (p.Ala608Asp)
3	g.122284365C>G	CA354159742	CASR	c.2180C>G (p.Ala727Gly) c.2441C>G (p.Ala814Gly) c.2411C>G (p.Ala804Gly) c.1928C>G (p.Ala643Gly) c.1823C>G (p.Ala608Gly)
3	g.122284365C>T	CA354159741	CASR	c.2180C>T (p.Ala727Val) c.2441C>T (p.Ala814Val) c.2411C>T (p.Ala804Val) c.1928C>T (p.Ala643Val) c.1823C>T (p.Ala608Val)
3	g.122284366C>A	CA435425210	CASR	c.2181C>A (p.Ala727=) c.2442C>A (p.Ala814=) c.2412C>A (p.Ala804=) c.1929C>A (p.Ala643=) c.1824C>A (p.Ala608=)	COSMIC
3	g.122284366C=	CA1397872273	CASR	c.2181C= (p.Ala727=) c.2442C= (p.Ala814=) c.2412C= (p.Ala804=) c.1929C= (p.Ala643=) c.1824C= (p.Ala608=)
3	g.122284366C>G	CA435425211	CASR	c.2181C>G (p.Ala727=) c.2442C>G (p.Ala814=) c.2412C>G (p.Ala804=) c.1929C>G (p.Ala643=) c.1824C>G (p.Ala608=)	dbSNP gnomAD v2 gnomAD v4
3	g.122284366C>T	CA10586844	CASR	c.2181C>T (p.Ala727=) c.2442C>T (p.Ala814=) c.2412C>T (p.Ala804=) c.1929C>T (p.Ala643=) c.1824C>T (p.Ala608=)	ClinVar dbSNP
3	g.122284367A>C	CA354159745	CASR	c.2182A>C (p.Lys728Gln) c.2443A>C (p.Lys815Gln) c.2413A>C (p.Lys805Gln) c.1930A>C (p.Lys644Gln) c.1825A>C (p.Lys609Gln)
3	g.122284367A>G	CA354159743	CASR	c.2182A>G (p.Lys728Glu) c.2443A>G (p.Lys815Glu) c.2413A>G (p.Lys805Glu) c.1930A>G (p.Lys644Glu) c.1825A>G (p.Lys609Glu)
3	g.122284367A>T	CA354159744	CASR	c.2182A>T (p.Lys728Ter) c.2443A>T (p.Lys815Ter) c.2413A>T (p.Lys805Ter) c.1930A>T (p.Lys644Ter) c.1825A>T (p.Lys609Ter)
3	g.122284368A>C	CA354159746	CASR	c.2183A>C (p.Lys728Thr) c.2444A>C (p.Lys815Thr) c.2414A>C (p.Lys805Thr) c.1931A>C (p.Lys644Thr) c.1826A>C (p.Lys609Thr)
3	g.122284368A>G	CA354159747	CASR	c.2183A>G (p.Lys728Arg) c.2444A>G (p.Lys815Arg) c.2414A>G (p.Lys805Arg) c.1931A>G (p.Lys644Arg) c.1826A>G (p.Lys609Arg)	ClinVar
3	g.122284368A>T	CA354159748	CASR	c.2183A>T (p.Lys728Met) c.2444A>T (p.Lys815Met) c.2414A>T (p.Lys805Met) c.1931A>T (p.Lys644Met) c.1826A>T (p.Lys609Met)
3	g.122284369del	CA2499216414	CASR	c.2184del (p.Lys728AsnfsTer?) c.2445del (p.Lys815AsnfsTer?) c.2415del (p.Lys805AsnfsTer?) c.1932del (p.Lys644AsnfsTer?) c.1827del (p.Lys609AsnfsTer?)	ClinVar dbSNP
3	g.122284369G>A	CA435425216	CASR	c.2184G>A (p.Lys728=) c.2445G>A (p.Lys815=) c.2415G>A (p.Lys805=) c.1932G>A (p.Lys644=) c.1827G>A (p.Lys609=)	ClinVar dbSNP gnomAD v4
3	g.122284369G>C	CA354159749	CASR	c.2184G>C (p.Lys728Asn) c.2445G>C (p.Lys815Asn) c.2415G>C (p.Lys805Asn) c.1932G>C (p.Lys644Asn) c.1827G>C (p.Lys609Asn)
3	g.122284369G=	CA1397872276	CASR	c.2184G= (p.Lys728=) c.2445G= (p.Lys815=) c.2415G= (p.Lys805=) c.1932G= (p.Lys644=) c.1827G= (p.Lys609=)
3	g.122284369G>T	CA354159750	CASR	c.2184G>T (p.Lys728Asn) c.2445G>T (p.Lys815Asn) c.2415G>T (p.Lys805Asn) c.1932G>T (p.Lys644Asn) c.1827G>T (p.Lys609Asn)
3	g.122284370T>A	CA354159751	CASR	c.2185T>A (p.Phe729Ile) c.2446T>A (p.Phe816Ile) c.2416T>A (p.Phe806Ile) c.1933T>A (p.Phe645Ile) c.1828T>A (p.Phe610Ile)
3	g.122284370T>C	CA354159752	CASR	c.2185T>C (p.Phe729Leu) c.2446T>C (p.Phe816Leu) c.2416T>C (p.Phe806Leu) c.1933T>C (p.Phe645Leu) c.1828T>C (p.Phe610Leu)
3	g.122284370T>G	CA354159753	CASR	c.2185T>G (p.Phe729Val) c.2446T>G (p.Phe816Val) c.2416T>G (p.Phe806Val) c.1933T>G (p.Phe645Val) c.1828T>G (p.Phe610Val)
3	g.122284371T>A	CA82748962	CASR	c.2186T>A (p.Phe729Tyr) c.2447T>A (p.Phe816Tyr) c.2417T>A (p.Phe806Tyr) c.1934T>A (p.Phe645Tyr) c.1829T>A (p.Phe610Tyr)	ClinVar dbSNP
3	g.122284371T>C	CA119483	CASR	c.2186T>C (p.Phe729Ser) c.2447T>C (p.Phe816Ser) c.2417T>C (p.Phe806Ser) c.1934T>C (p.Phe645Ser) c.1829T>C (p.Phe610Ser)	ClinVar dbSNP
3	g.122284371T>G	CA354159754	CASR	c.2186T>G (p.Phe729Cys) c.2447T>G (p.Phe816Cys) c.2417T>G (p.Phe806Cys) c.1934T>G (p.Phe645Cys) c.1829T>G (p.Phe610Cys)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122284371T=	CA1397872280	CASR	c.2186T= (p.Phe729=) c.2447T= (p.Phe816=) c.2417T= (p.Phe806=) c.1934T= (p.Phe645=) c.1829T= (p.Phe610=)
3	g.122284372C>A	CA354159756	CASR	c.2187C>A (p.Phe729Leu) c.2448C>A (p.Phe816Leu) c.2418C>A (p.Phe806Leu) c.1935C>A (p.Phe645Leu) c.1830C>A (p.Phe610Leu)
3	g.122284372C>G	CA354159755	CASR	c.2187C>G (p.Phe729Leu) c.2448C>G (p.Phe816Leu) c.2418C>G (p.Phe806Leu) c.1935C>G (p.Phe645Leu) c.1830C>G (p.Phe610Leu)
3	g.122284372C>T	CA435425220	CASR	c.2187C>T (p.Phe729=) c.2448C>T (p.Phe816=) c.2418C>T (p.Phe806=) c.1935C>T (p.Phe645=) c.1830C>T (p.Phe610=)	ClinVar dbSNP
3	g.122284373A>C	CA354159757	CASR	c.2188A>C (p.Ile730Leu) c.2449A>C (p.Ile817Leu) c.2419A>C (p.Ile807Leu) c.1936A>C (p.Ile646Leu) c.1831A>C (p.Ile611Leu)
3	g.122284373A>G	CA354159758	CASR	c.2188A>G (p.Ile730Val) c.2449A>G (p.Ile817Val) c.2419A>G (p.Ile807Val) c.1936A>G (p.Ile646Val) c.1831A>G (p.Ile611Val)
3	g.122284373A>T	CA354159759	CASR	c.2188A>T (p.Ile730Phe) c.2449A>T (p.Ile817Phe) c.2419A>T (p.Ile807Phe) c.1936A>T (p.Ile646Phe) c.1831A>T (p.Ile611Phe)
3	g.122284374T>A	CA354159760	CASR	c.2189T>A (p.Ile730Asn) c.2450T>A (p.Ile817Asn) c.2420T>A (p.Ile807Asn) c.1937T>A (p.Ile646Asn) c.1832T>A (p.Ile611Asn)
3	g.122284374T>C	CA354159761	CASR	c.2189T>C (p.Ile730Thr) c.2450T>C (p.Ile817Thr) c.2420T>C (p.Ile807Thr) c.1937T>C (p.Ile646Thr) c.1832T>C (p.Ile611Thr)	COSMIC
3	g.122284374T>G	CA354159762	CASR	c.2189T>G (p.Ile730Ser) c.2450T>G (p.Ile817Ser) c.2420T>G (p.Ile807Ser) c.1937T>G (p.Ile646Ser) c.1832T>G (p.Ile611Ser)
3	g.122284375C>A	CA435425225	CASR	c.2190C>A (p.Ile730=) c.2451C>A (p.Ile817=) c.2421C>A (p.Ile807=) c.1938C>A (p.Ile646=) c.1833C>A (p.Ile611=)	dbSNP
3	g.122284375C=	CA1397872286	CASR	c.2190C= (p.Ile730=) c.2451C= (p.Ile817=) c.2421C= (p.Ile807=) c.1938C= (p.Ile646=) c.1833C= (p.Ile611=)
3	g.122284375C>G	CA354159763	CASR	c.2190C>G (p.Ile730Met) c.2451C>G (p.Ile817Met) c.2421C>G (p.Ile807Met) c.1938C>G (p.Ile646Met) c.1833C>G (p.Ile611Met)
3	g.122284375C>T	CA435425228	CASR	c.2190C>T (p.Ile730=) c.2451C>T (p.Ile817=) c.2421C>T (p.Ile807=) c.1938C>T (p.Ile646=) c.1833C>T (p.Ile611=)	ClinVar dbSNP gnomAD v4 COSMIC
3	g.122284376A=	CA1397872291	CASR	c.2191A= (p.Thr731=) c.2452A= (p.Thr818=) c.2422A= (p.Thr808=) c.1939A= (p.Thr647=) c.1834A= (p.Thr612=)
3	g.122284376A>C	CA354159764	CASR	c.2191A>C (p.Thr731Pro) c.2452A>C (p.Thr818Pro) c.2422A>C (p.Thr808Pro) c.1939A>C (p.Thr647Pro) c.1834A>C (p.Thr612Pro)	dbSNP
3	g.122284376A>G	CA354159765	CASR	c.2191A>G (p.Thr731Ala) c.2452A>G (p.Thr818Ala) c.2422A>G (p.Thr808Ala) c.1939A>G (p.Thr647Ala) c.1834A>G (p.Thr612Ala)	COSMIC
3	g.122284376A>T	CA354159766	CASR	c.2191A>T (p.Thr731Ser) c.2452A>T (p.Thr818Ser) c.2422A>T (p.Thr808Ser) c.1939A>T (p.Thr647Ser) c.1834A>T (p.Thr612Ser)
3	g.122284377C>A	CA354159767	CASR	c.2192C>A (p.Thr731Asn) c.2453C>A (p.Thr818Asn) c.2423C>A (p.Thr808Asn) c.1940C>A (p.Thr647Asn) c.1835C>A (p.Thr612Asn)	dbSNP
3	g.122284377C=	CA1397872293	CASR	c.2192C= (p.Thr731=) c.2453C= (p.Thr818=) c.2423C= (p.Thr808=) c.1940C= (p.Thr647=) c.1835C= (p.Thr612=)
3	g.122284377C>G	CA354159768	CASR	c.2192C>G (p.Thr731Ser) c.2453C>G (p.Thr818Ser) c.2423C>G (p.Thr808Ser) c.1940C>G (p.Thr647Ser) c.1835C>G (p.Thr612Ser)	ClinVar
3	g.122284377C>T	CA354159769	CASR	c.2192C>T (p.Thr731Ile) c.2453C>T (p.Thr818Ile) c.2423C>T (p.Thr808Ile) c.1940C>T (p.Thr647Ile) c.1835C>T (p.Thr612Ile)
3	g.122284378C>A	CA435425236	CASR	c.2193C>A (p.Thr731=) c.2454C>A (p.Thr818=) c.2424C>A (p.Thr808=) c.1941C>A (p.Thr647=) c.1836C>A (p.Thr612=)
3	g.122284378C=	CA1397872295	CASR	c.2193C= (p.Thr731=) c.2454C= (p.Thr818=) c.2424C= (p.Thr808=) c.1941C= (p.Thr647=) c.1836C= (p.Thr612=)
3	g.122284378C>G	CA435425237	CASR	c.2193C>G (p.Thr731=) c.2454C>G (p.Thr818=) c.2424C>G (p.Thr808=) c.1941C>G (p.Thr647=) c.1836C>G (p.Thr612=)
3	g.122284378C>T	CA435425238	CASR	c.2193C>T (p.Thr731=) c.2454C>T (p.Thr818=) c.2424C>T (p.Thr808=) c.1941C>T (p.Thr647=) c.1836C>T (p.Thr612=)	dbSNP
3	g.122284379T>A	CA354159770	CASR	c.2194T>A (p.Phe732Ile) c.2455T>A (p.Phe819Ile) c.2425T>A (p.Phe809Ile) c.1942T>A (p.Phe648Ile) c.1837T>A (p.Phe613Ile)	ClinVar dbSNP
3	g.122284379T>C	CA354159772	CASR	c.2194T>C (p.Phe732Leu) c.2455T>C (p.Phe819Leu) c.2425T>C (p.Phe809Leu) c.1942T>C (p.Phe648Leu) c.1837T>C (p.Phe613Leu)
3	g.122284379T>G	CA354159771	CASR	c.2194T>G (p.Phe732Val) c.2455T>G (p.Phe819Val) c.2425T>G (p.Phe809Val) c.1942T>G (p.Phe648Val) c.1837T>G (p.Phe613Val)
3	g.122284379T=	CA1397872298	CASR	c.2194T= (p.Phe732=) c.2455T= (p.Phe819=) c.2425T= (p.Phe809=) c.1942T= (p.Phe648=) c.1837T= (p.Phe613=)
3	g.122284380T>A	CA354159773	CASR	c.2195T>A (p.Phe732Tyr) c.2456T>A (p.Phe819Tyr) c.2426T>A (p.Phe809Tyr) c.1943T>A (p.Phe648Tyr) c.1838T>A (p.Phe613Tyr)
3	g.122284380T>C	CA354159774	CASR	c.2195T>C (p.Phe732Ser) c.2456T>C (p.Phe819Ser) c.2426T>C (p.Phe809Ser) c.1943T>C (p.Phe648Ser) c.1838T>C (p.Phe613Ser)
3	g.122284380T>G	CA354159775	CASR	c.2195T>G (p.Phe732Cys) c.2456T>G (p.Phe819Cys) c.2426T>G (p.Phe809Cys) c.1943T>G (p.Phe648Cys) c.1838T>G (p.Phe613Cys)
3	g.122284381C>A	CA354159776	CASR	c.2196C>A (p.Phe732Leu) c.2457C>A (p.Phe819Leu) c.2427C>A (p.Phe809Leu) c.1944C>A (p.Phe648Leu) c.1839C>A (p.Phe613Leu)
3	g.122284381C=	CA1397872301	CASR	c.2196C= (p.Phe732=) c.2457C= (p.Phe819=) c.2427C= (p.Phe809=) c.1944C= (p.Phe648=) c.1839C= (p.Phe613=)
3	g.122284381C>G	CA354159777	CASR	c.2196C>G (p.Phe732Leu) c.2457C>G (p.Phe819Leu) c.2427C>G (p.Phe809Leu) c.1944C>G (p.Phe648Leu) c.1839C>G (p.Phe613Leu)
3	g.122284381C>T	CA435425242	CASR	c.2196C>T (p.Phe732=) c.2457C>T (p.Phe819=) c.2427C>T (p.Phe809=) c.1944C>T (p.Phe648=) c.1839C>T (p.Phe613=)	dbSNP gnomAD v2
3	g.122284382A>C	CA354159778	CASR	c.2197A>C (p.Ser733Arg) c.2458A>C (p.Ser820Arg) c.2428A>C (p.Ser810Arg) c.1945A>C (p.Ser649Arg) c.1840A>C (p.Ser614Arg)
3	g.122284382A>G	CA354159779	CASR	c.2197A>G (p.Ser733Gly) c.2458A>G (p.Ser820Gly) c.2428A>G (p.Ser810Gly) c.1945A>G (p.Ser649Gly) c.1840A>G (p.Ser614Gly)
3	g.122284382A>T	CA354159780	CASR	c.2197A>T (p.Ser733Cys) c.2458A>T (p.Ser820Cys) c.2428A>T (p.Ser810Cys) c.1945A>T (p.Ser649Cys) c.1840A>T (p.Ser614Cys)	gnomAD v4
3	g.122284383G>A	CA354159781	CASR	c.2198G>A (p.Ser733Asn) c.2459G>A (p.Ser820Asn) c.2429G>A (p.Ser810Asn) c.1946G>A (p.Ser649Asn) c.1841G>A (p.Ser614Asn)	ClinVar dbSNP
3	g.122284383G>C	CA354159782	CASR	c.2198G>C (p.Ser733Thr) c.2459G>C (p.Ser820Thr) c.2429G>C (p.Ser810Thr) c.1946G>C (p.Ser649Thr) c.1841G>C (p.Ser614Thr)	ClinVar
3	g.122284383G=	CA1397872306	CASR	c.2198G= (p.Ser733=) c.2459G= (p.Ser820=) c.2429G= (p.Ser810=) c.1946G= (p.Ser649=) c.1841G= (p.Ser614=)
3	g.122284383G>T	CA354159783	CASR	c.2198G>T (p.Ser733Ile) c.2459G>T (p.Ser820Ile) c.2429G>T (p.Ser810Ile) c.1946G>T (p.Ser649Ile) c.1841G>T (p.Ser614Ile)
3	g.122284384C>A	CA354159785	CASR	c.2199C>A (p.Ser733Arg) c.2460C>A (p.Ser820Arg) c.2430C>A (p.Ser810Arg) c.1947C>A (p.Ser649Arg) c.1842C>A (p.Ser614Arg)
3	g.122284384C>G	CA354159784	CASR	c.2199C>G (p.Ser733Arg) c.2460C>G (p.Ser820Arg) c.2430C>G (p.Ser810Arg) c.1947C>G (p.Ser649Arg) c.1842C>G (p.Ser614Arg)
3	g.122284384C>T	CA435425249	CASR	c.2199C>T (p.Ser733=) c.2460C>T (p.Ser820=) c.2430C>T (p.Ser810=) c.1947C>T (p.Ser649=) c.1842C>T (p.Ser614=)	gnomAD v4
3	g.122284385A=	CA1397872312	CASR	c.2200A= (p.Met734=) c.2461A= (p.Met821=) c.2431A= (p.Met811=) c.1948A= (p.Met650=) c.1843A= (p.Met615=)
3	g.122284385A>C	CA354159786	CASR	c.2200A>C (p.Met734Leu) c.2461A>C (p.Met821Leu) c.2431A>C (p.Met811Leu) c.1948A>C (p.Met650Leu) c.1843A>C (p.Met615Leu)
3	g.122284385A>G	CA16604354	CASR	c.2200A>G (p.Met734Val) c.2461A>G (p.Met821Val) c.2431A>G (p.Met811Val) c.1948A>G (p.Met650Val) c.1843A>G (p.Met615Val)	ClinVar dbSNP
3	g.122284385A>T	CA354159787	CASR	c.2200A>T (p.Met734Leu) c.2461A>T (p.Met821Leu) c.2431A>T (p.Met811Leu) c.1948A>T (p.Met650Leu) c.1843A>T (p.Met615Leu)
3	g.122284386T>A	CA354159788	CASR	c.2201T>A (p.Met734Lys) c.2462T>A (p.Met821Lys) c.2432T>A (p.Met811Lys) c.1949T>A (p.Met650Lys) c.1844T>A (p.Met615Lys)
3	g.122284386T>C	CA354159789	CASR	c.2201T>C (p.Met734Thr) c.2462T>C (p.Met821Thr) c.2432T>C (p.Met811Thr) c.1949T>C (p.Met650Thr) c.1844T>C (p.Met615Thr)
3	g.122284386T>G	CA354159790	CASR	c.2201T>G (p.Met734Arg) c.2462T>G (p.Met821Arg) c.2432T>G (p.Met811Arg) c.1949T>G (p.Met650Arg) c.1844T>G (p.Met615Arg)
3	g.122284387G>A	CA354159791	CASR	c.2202G>A (p.Met734Ile) c.2463G>A (p.Met821Ile) c.2433G>A (p.Met811Ile) c.1950G>A (p.Met650Ile) c.1845G>A (p.Met615Ile)
3	g.122284387G>C	CA354159792	CASR	c.2202G>C (p.Met734Ile) c.2463G>C (p.Met821Ile) c.2433G>C (p.Met811Ile) c.1950G>C (p.Met650Ile) c.1845G>C (p.Met615Ile)
3	g.122284387G>T	CA354159793	CASR	c.2202G>T (p.Met734Ile) c.2463G>T (p.Met821Ile) c.2433G>T (p.Met811Ile) c.1950G>T (p.Met650Ile) c.1845G>T (p.Met615Ile)
3	g.122284388C>A	CA354159794	CASR	c.2203C>A (p.Leu735Ile) c.2464C>A (p.Leu822Ile) c.2434C>A (p.Leu812Ile) c.1951C>A (p.Leu651Ile) c.1846C>A (p.Leu616Ile)
3	g.122284388C=	CA1397872316	CASR	c.2203C= (p.Leu735=) c.2464C= (p.Leu822=) c.2434C= (p.Leu812=) c.1951C= (p.Leu651=) c.1846C= (p.Leu616=)
3	g.122284388C>G	CA354159795	CASR	c.2203C>G (p.Leu735Val) c.2464C>G (p.Leu822Val) c.2434C>G (p.Leu812Val) c.1951C>G (p.Leu651Val) c.1846C>G (p.Leu616Val)
3	g.122284388C>T	CA354159796	CASR	c.2203C>T (p.Leu735Phe) c.2464C>T (p.Leu822Phe) c.2434C>T (p.Leu812Phe) c.1951C>T (p.Leu651Phe) c.1846C>T (p.Leu616Phe)	ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched