Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
3	g.122283792_122283793delinsAA	CA645526043	CASR	c.1607_1608delinsAA (p.Gly536Glu) c.1868_1869delinsAA (p.Gly623Glu) c.1838_1839delinsAA (p.Gly613Glu) c.1355_1356delinsAA (p.Gly452Glu) c.1250_1251delinsAA (p.Gly417Glu)	COSMIC
3	g.122283793G>A	CA435251891	CASR	c.1608G>A (p.Gly536=) c.1869G>A (p.Gly623=) c.1839G>A (p.Gly613=) c.1356G>A (p.Gly452=) c.1251G>A (p.Gly417=)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3	g.122283793G>C	CA435251890	CASR	c.1608G>C (p.Gly536=) c.1869G>C (p.Gly623=) c.1839G>C (p.Gly613=) c.1356G>C (p.Gly452=) c.1251G>C (p.Gly417=)
3	g.122283793G=	CA1397871024	CASR	c.1608G= (p.Gly536=) c.1869G= (p.Gly623=) c.1839G= (p.Gly613=) c.1356G= (p.Gly452=) c.1251G= (p.Gly417=)
3	g.122283793G>T	CA435251889	CASR	c.1608G>T (p.Gly536=) c.1869G>T (p.Gly623=) c.1839G>T (p.Gly613=) c.1356G>T (p.Gly452=) c.1251G>T (p.Gly417=)
3	g.122283794A=	CA1397871026	CASR	c.1609A= (p.Ile537=) c.1870A= (p.Ile624=) c.1840A= (p.Ile614=) c.1357A= (p.Ile453=) c.1252A= (p.Ile418=)
3	g.122283794A>C	CA354157565	CASR	c.1609A>C (p.Ile537Leu) c.1870A>C (p.Ile624Leu) c.1840A>C (p.Ile614Leu) c.1357A>C (p.Ile453Leu) c.1252A>C (p.Ile418Leu)
3	g.122283794A>G	CA354157568	CASR	c.1609A>G (p.Ile537Val) c.1870A>G (p.Ile624Val) c.1840A>G (p.Ile614Val) c.1357A>G (p.Ile453Val) c.1252A>G (p.Ile418Val)
3	g.122283794A>T	CA82748574	CASR	c.1609A>T (p.Ile537Phe) c.1870A>T (p.Ile624Phe) c.1840A>T (p.Ile614Phe) c.1357A>T (p.Ile453Phe) c.1252A>T (p.Ile418Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122283795T>A	CA354157570	CASR	c.1610T>A (p.Ile537Asn) c.1871T>A (p.Ile624Asn) c.1841T>A (p.Ile614Asn) c.1358T>A (p.Ile453Asn) c.1253T>A (p.Ile418Asn)
3	g.122283795T>C	CA82748578	CASR	c.1610T>C (p.Ile537Thr) c.1871T>C (p.Ile624Thr) c.1841T>C (p.Ile614Thr) c.1358T>C (p.Ile453Thr) c.1253T>C (p.Ile418Thr)	ClinVar dbSNP
3	g.122283795T>G	CA354157574	CASR	c.1610T>G (p.Ile537Ser) c.1871T>G (p.Ile624Ser) c.1841T>G (p.Ile614Ser) c.1358T>G (p.Ile453Ser) c.1253T>G (p.Ile418Ser)
3	g.122283795T=	CA1397871027	CASR	c.1610T= (p.Ile537=) c.1871T= (p.Ile624=) c.1841T= (p.Ile614=) c.1358T= (p.Ile453=) c.1253T= (p.Ile418=)
3	g.122283796C>A	CA435251892	CASR	c.1611C>A (p.Ile537=) c.1872C>A (p.Ile624=) c.1842C>A (p.Ile614=) c.1359C>A (p.Ile453=) c.1254C>A (p.Ile418=)	dbSNP gnomAD v2 gnomAD v4
3	g.122283796C=	CA1397871028	CASR	c.1611C= (p.Ile537=) c.1872C= (p.Ile624=) c.1842C= (p.Ile614=) c.1359C= (p.Ile453=) c.1254C= (p.Ile418=)
3	g.122283796C>G	CA82748583	CASR	c.1611C>G (p.Ile537Met) c.1872C>G (p.Ile624Met) c.1842C>G (p.Ile614Met) c.1359C>G (p.Ile453Met) c.1254C>G (p.Ile418Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122283796C>T	CA2569751	CASR	c.1611C>T (p.Ile537=) c.1872C>T (p.Ile624=) c.1842C>T (p.Ile614=) c.1359C>T (p.Ile453=) c.1254C>T (p.Ile418=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122283797G>A	CA2569752	CASR	c.1612G>A (p.Ala538Thr) c.1873G>A (p.Ala625Thr) c.1843G>A (p.Ala615Thr) c.1360G>A (p.Ala454Thr) c.1255G>A (p.Ala419Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122283797G>C	CA354157583	CASR	c.1612G>C (p.Ala538Pro) c.1873G>C (p.Ala625Pro) c.1843G>C (p.Ala615Pro) c.1360G>C (p.Ala454Pro) c.1255G>C (p.Ala419Pro)	ClinVar
3	g.122283797G=	CA1397871032	CASR	c.1612G= (p.Ala538=) c.1873G= (p.Ala625=) c.1843G= (p.Ala615=) c.1360G= (p.Ala454=) c.1255G= (p.Ala419=)
3	g.122283797G>T	CA82748585	CASR	c.1612G>T (p.Ala538Ser) c.1873G>T (p.Ala625Ser) c.1843G>T (p.Ala615Ser) c.1360G>T (p.Ala454Ser) c.1255G>T (p.Ala419Ser)	ClinVar dbSNP gnomAD v4
3	g.122283798C>A	CA354157590	CASR	c.1613C>A (p.Ala538Glu) c.1874C>A (p.Ala625Glu) c.1844C>A (p.Ala615Glu) c.1361C>A (p.Ala454Glu) c.1256C>A (p.Ala419Glu)
3	g.122283798C>G	CA354157592	CASR	c.1613C>G (p.Ala538Gly) c.1874C>G (p.Ala625Gly) c.1844C>G (p.Ala615Gly) c.1361C>G (p.Ala454Gly) c.1256C>G (p.Ala419Gly)
3	g.122283798C>T	CA354157597	CASR	c.1613C>T (p.Ala538Val) c.1874C>T (p.Ala625Val) c.1844C>T (p.Ala615Val) c.1361C>T (p.Ala454Val) c.1256C>T (p.Ala419Val)	ClinVar
3	g.122283801_122283804del	CA2740094570	CASR	c.1616_1619del (p.Leu539ProfsTer10) c.1877_1880del (p.Leu626ProfsTer10) c.1847_1850del (p.Leu616ProfsTer10) c.1364_1367del (p.Leu455ProfsTer10) c.1259_1262del (p.Leu420ProfsTer10)	ClinVar
3	g.122283799A>C	CA435251893	CASR	c.1614A>C (p.Ala538=) c.1875A>C (p.Ala625=) c.1845A>C (p.Ala615=) c.1362A>C (p.Ala454=) c.1257A>C (p.Ala419=)
3	g.122283799A>G	CA435251894	CASR	c.1614A>G (p.Ala538=) c.1875A>G (p.Ala625=) c.1845A>G (p.Ala615=) c.1362A>G (p.Ala454=) c.1257A>G (p.Ala419=)	gnomAD v4
3	g.122283799A>T	CA435251895	CASR	c.1614A>T (p.Ala538=) c.1875A>T (p.Ala625=) c.1845A>T (p.Ala615=) c.1362A>T (p.Ala454=) c.1257A>T (p.Ala419=)
3	g.122283800C>A	CA354157604	CASR	c.1615C>A (p.Leu539Ile) c.1876C>A (p.Leu626Ile) c.1846C>A (p.Leu616Ile) c.1363C>A (p.Leu455Ile) c.1258C>A (p.Leu420Ile)
3	g.122283800C=	CA1397871033	CASR	c.1615C= (p.Leu539=) c.1876C= (p.Leu626=) c.1846C= (p.Leu616=) c.1363C= (p.Leu455=) c.1258C= (p.Leu420=)
3	g.122283800C>G	CA119513	CASR	c.1615C>G (p.Leu539Val) c.1876C>G (p.Leu626Val) c.1846C>G (p.Leu616Val) c.1363C>G (p.Leu455Val) c.1258C>G (p.Leu420Val)	ClinVar dbSNP
3	g.122283800C>T	CA354157599	CASR	c.1615C>T (p.Leu539Phe) c.1876C>T (p.Leu626Phe) c.1846C>T (p.Leu616Phe) c.1363C>T (p.Leu455Phe) c.1258C>T (p.Leu420Phe)
3	g.122283801T>A	CA354157607	CASR	c.1616T>A (p.Leu539His) c.1877T>A (p.Leu626His) c.1847T>A (p.Leu616His) c.1364T>A (p.Leu455His) c.1259T>A (p.Leu420His)
3	g.122283801T>C	CA354157610	CASR	c.1616T>C (p.Leu539Pro) c.1877T>C (p.Leu626Pro) c.1847T>C (p.Leu616Pro) c.1364T>C (p.Leu455Pro) c.1259T>C (p.Leu420Pro)
3	g.122283801T>G	CA354157611	CASR	c.1616T>G (p.Leu539Arg) c.1877T>G (p.Leu626Arg) c.1847T>G (p.Leu616Arg) c.1364T>G (p.Leu455Arg) c.1259T>G (p.Leu420Arg)
3	g.122283802C>A	CA435251896	CASR	c.1617C>A (p.Leu539=) c.1878C>A (p.Leu626=) c.1848C>A (p.Leu616=) c.1365C>A (p.Leu455=) c.1260C>A (p.Leu420=)	ClinVar dbSNP gnomAD v4
3	g.122283802C>G	CA435251897	CASR	c.1617C>G (p.Leu539=) c.1878C>G (p.Leu626=) c.1848C>G (p.Leu616=) c.1365C>G (p.Leu455=) c.1260C>G (p.Leu420=)
3	g.122283802C>T	CA435251898	CASR	c.1617C>T (p.Leu539=) c.1878C>T (p.Leu626=) c.1848C>T (p.Leu616=) c.1365C>T (p.Leu455=) c.1260C>T (p.Leu420=)	ClinVar
3	g.122283802_122283803delinsCA	CA1397871034	CASR	c.1617_1618delinsCA (p.Leu539=) c.1878_1879delinsCA (p.Leu626=) c.1848_1849delinsCA (p.Leu616=) c.1365_1366delinsCA (p.Leu455=) c.1260_1261delinsCA (p.Leu420=)
3	g.122283803del	CA658657327	CASR	c.1618del (p.Thr540ProfsTer10) c.1879del (p.Thr627ProfsTer10) c.1849del (p.Thr617ProfsTer10) c.1366del (p.Thr456ProfsTer10) c.1261del (p.Thr421ProfsTer10)	ClinVar dbSNP
3	g.122283803A=	CA1397871038	CASR	c.1618A= (p.Thr540=) c.1879A= (p.Thr627=) c.1849A= (p.Thr617=) c.1366A= (p.Thr456=) c.1261A= (p.Thr421=)
3	g.122283803A>C	CA354157615	CASR	c.1618A>C (p.Thr540Pro) c.1879A>C (p.Thr627Pro) c.1849A>C (p.Thr617Pro) c.1366A>C (p.Thr456Pro) c.1261A>C (p.Thr421Pro)
3	g.122283803A>G	CA354157617	CASR	c.1618A>G (p.Thr540Ala) c.1879A>G (p.Thr627Ala) c.1849A>G (p.Thr617Ala) c.1366A>G (p.Thr456Ala) c.1261A>G (p.Thr421Ala)	dbSNP gnomAD v2 gnomAD v4
3	g.122283803A>T	CA354157620	CASR	c.1618A>T (p.Thr540Ser) c.1879A>T (p.Thr627Ser) c.1849A>T (p.Thr617Ser) c.1366A>T (p.Thr456Ser) c.1261A>T (p.Thr421Ser)
3	g.122283804C>A	CA354157623	CASR	c.1619C>A (p.Thr540Asn) c.1880C>A (p.Thr627Asn) c.1850C>A (p.Thr617Asn) c.1367C>A (p.Thr456Asn) c.1262C>A (p.Thr421Asn)	dbSNP
3	g.122283804C=	CA1397871042	CASR	c.1619C= (p.Thr540=) c.1880C= (p.Thr627=) c.1850C= (p.Thr617=) c.1367C= (p.Thr456=) c.1262C= (p.Thr421=)
3	g.122283804C>G	CA354157627	CASR	c.1619C>G (p.Thr540Ser) c.1880C>G (p.Thr627Ser) c.1850C>G (p.Thr617Ser) c.1367C>G (p.Thr456Ser) c.1262C>G (p.Thr421Ser)
3	g.122283804C>T	CA354157625	CASR	c.1619C>T (p.Thr540Ile) c.1880C>T (p.Thr627Ile) c.1850C>T (p.Thr617Ile) c.1367C>T (p.Thr456Ile) c.1262C>T (p.Thr421Ile)	ClinVar
3	g.122283806del	CA2573136450	CASR	c.1621del (p.Leu541SerfsTer9) c.1882del (p.Leu628SerfsTer9) c.1852del (p.Leu618SerfsTer9) c.1369del (p.Leu457SerfsTer9) c.1264del (p.Leu422SerfsTer9)	ClinVar dbSNP
3	g.122283805C>A	CA435251899	CASR	c.1620C>A (p.Thr540=) c.1881C>A (p.Thr627=) c.1851C>A (p.Thr617=) c.1368C>A (p.Thr456=) c.1263C>A (p.Thr421=)	ClinVar dbSNP
3	g.122283805C=	CA1397871045	CASR	c.1620C= (p.Thr540=) c.1881C= (p.Thr627=) c.1851C= (p.Thr617=) c.1368C= (p.Thr456=) c.1263C= (p.Thr421=)
3	g.122283805C>G	CA435251900	CASR	c.1620C>G (p.Thr540=) c.1881C>G (p.Thr627=) c.1851C>G (p.Thr617=) c.1368C>G (p.Thr456=) c.1263C>G (p.Thr421=)
3	g.122283805C>T	CA435251901	CASR	c.1620C>T (p.Thr540=) c.1881C>T (p.Thr627=) c.1851C>T (p.Thr617=) c.1368C>T (p.Thr456=) c.1263C>T (p.Thr421=)
3	g.122283806C>A	CA354157631	CASR	c.1621C>A (p.Leu541Ile) c.1882C>A (p.Leu628Ile) c.1852C>A (p.Leu618Ile) c.1369C>A (p.Leu457Ile) c.1264C>A (p.Leu422Ile)
3	g.122283806C=	CA1397871049	CASR	c.1621C= (p.Leu541=) c.1882C= (p.Leu628=) c.1852C= (p.Leu618=) c.1369C= (p.Leu457=) c.1264C= (p.Leu422=)
3	g.122283806C>G	CA354157634	CASR	c.1621C>G (p.Leu541Val) c.1882C>G (p.Leu628Val) c.1852C>G (p.Leu618Val) c.1369C>G (p.Leu457Val) c.1264C>G (p.Leu422Val)	ClinVar dbSNP
3	g.122283806C>T	CA354157637	CASR	c.1621C>T (p.Leu541Phe) c.1882C>T (p.Leu628Phe) c.1852C>T (p.Leu618Phe) c.1369C>T (p.Leu457Phe) c.1264C>T (p.Leu422Phe)	ClinVar gnomAD v4 COSMIC
3	g.122283807T>A	CA354157639	CASR	c.1622T>A (p.Leu541His) c.1883T>A (p.Leu628His) c.1853T>A (p.Leu618His) c.1370T>A (p.Leu457His) c.1265T>A (p.Leu422His)
3	g.122283807T>C	CA354157641	CASR	c.1622T>C (p.Leu541Pro) c.1883T>C (p.Leu628Pro) c.1853T>C (p.Leu618Pro) c.1370T>C (p.Leu457Pro) c.1265T>C (p.Leu422Pro)
3	g.122283807T>G	CA354157645	CASR	c.1622T>G (p.Leu541Arg) c.1883T>G (p.Leu628Arg) c.1853T>G (p.Leu618Arg) c.1370T>G (p.Leu457Arg) c.1265T>G (p.Leu422Arg)	ClinVar dbSNP
3	g.122283808C>A	CA435251902	CASR	c.1623C>A (p.Leu541=) c.1884C>A (p.Leu628=) c.1854C>A (p.Leu618=) c.1371C>A (p.Leu457=) c.1266C>A (p.Leu422=)
3	g.122283808C=	CA1397871054	CASR	c.1623C= (p.Leu541=) c.1884C= (p.Leu628=) c.1854C= (p.Leu618=) c.1371C= (p.Leu457=) c.1266C= (p.Leu422=)
3	g.122283808C>G	CA435251903	CASR	c.1623C>G (p.Leu541=) c.1884C>G (p.Leu628=) c.1854C>G (p.Leu618=) c.1371C>G (p.Leu457=) c.1266C>G (p.Leu422=)
3	g.122283808C>T	CA435251904	CASR	c.1623C>T (p.Leu541=) c.1884C>T (p.Leu628=) c.1854C>T (p.Leu618=) c.1371C>T (p.Leu457=) c.1266C>T (p.Leu422=)	ClinVar dbSNP gnomAD v4
3	g.122283809T>A	CA354157653	CASR	c.1624T>A (p.Phe542Ile) c.1885T>A (p.Phe629Ile) c.1855T>A (p.Phe619Ile) c.1372T>A (p.Phe458Ile) c.1267T>A (p.Phe423Ile)
3	g.122283809T>C	CA354157656	CASR	c.1624T>C (p.Phe542Leu) c.1885T>C (p.Phe629Leu) c.1855T>C (p.Phe619Leu) c.1372T>C (p.Phe458Leu) c.1267T>C (p.Phe423Leu)
3	g.122283809T>G	CA354157659	CASR	c.1624T>G (p.Phe542Val) c.1885T>G (p.Phe629Val) c.1855T>G (p.Phe619Val) c.1372T>G (p.Phe458Val) c.1267T>G (p.Phe423Val)
3	g.122283810_122283811del	CA2586972858	CASR	c.1625_1626del (p.Phe542CysfsTer?) c.1886_1887del (p.Phe629CysfsTer?) c.1856_1857del (p.Phe619CysfsTer?) c.1373_1374del (p.Phe458CysfsTer?) c.1268_1269del (p.Phe423CysfsTer?)
3	g.122283810T>A	CA354157662	CASR	c.1625T>A (p.Phe542Tyr) c.1886T>A (p.Phe629Tyr) c.1856T>A (p.Phe619Tyr) c.1373T>A (p.Phe458Tyr) c.1268T>A (p.Phe423Tyr)
3	g.122283810T>C	CA354157672	CASR	c.1625T>C (p.Phe542Ser) c.1886T>C (p.Phe629Ser) c.1856T>C (p.Phe619Ser) c.1373T>C (p.Phe458Ser) c.1268T>C (p.Phe423Ser)	COSMIC
3	g.122283810T>G	CA354157677	CASR	c.1625T>G (p.Phe542Cys) c.1886T>G (p.Phe629Cys) c.1856T>G (p.Phe619Cys) c.1373T>G (p.Phe458Cys) c.1268T>G (p.Phe423Cys)	gnomAD v4
3	g.122283811T>A	CA354157679	CASR	c.1626T>A (p.Phe542Leu) c.1887T>A (p.Phe629Leu) c.1857T>A (p.Phe619Leu) c.1374T>A (p.Phe458Leu) c.1269T>A (p.Phe423Leu)
3	g.122283811T>C	CA82748588	CASR	c.1626T>C (p.Phe542=) c.1887T>C (p.Phe629=) c.1857T>C (p.Phe619=) c.1374T>C (p.Phe458=) c.1269T>C (p.Phe423=)	dbSNP
3	g.122283811T>G	CA354157681	CASR	c.1626T>G (p.Phe542Leu) c.1887T>G (p.Phe629Leu) c.1857T>G (p.Phe619Leu) c.1374T>G (p.Phe458Leu) c.1269T>G (p.Phe423Leu)
3	g.122283811T=	CA1397871055	CASR	c.1626T= (p.Phe542=) c.1887T= (p.Phe629=) c.1857T= (p.Phe619=) c.1374T= (p.Phe458=) c.1269T= (p.Phe423=)
3	g.122283812G>A	CA354157686	CASR	c.1627G>A (p.Ala543Thr) c.1888G>A (p.Ala630Thr) c.1858G>A (p.Ala620Thr) c.1375G>A (p.Ala459Thr) c.1270G>A (p.Ala424Thr)
3	g.122283812G>C	CA354157687	CASR	c.1627G>C (p.Ala543Pro) c.1888G>C (p.Ala630Pro) c.1858G>C (p.Ala620Pro) c.1375G>C (p.Ala459Pro) c.1270G>C (p.Ala424Pro)
3	g.122283812G>T	CA354157689	CASR	c.1627G>T (p.Ala543Ser) c.1888G>T (p.Ala630Ser) c.1858G>T (p.Ala620Ser) c.1375G>T (p.Ala459Ser) c.1270G>T (p.Ala424Ser)	ClinVar
3	g.122283813C>A	CA354157692	CASR	c.1628C>A (p.Ala543Asp) c.1889C>A (p.Ala630Asp) c.1859C>A (p.Ala620Asp) c.1376C>A (p.Ala459Asp) c.1271C>A (p.Ala424Asp)
3	g.122283813C>G	CA354157695	CASR	c.1628C>G (p.Ala543Gly) c.1889C>G (p.Ala630Gly) c.1859C>G (p.Ala620Gly) c.1376C>G (p.Ala459Gly) c.1271C>G (p.Ala424Gly)
3	g.122283813C>T	CA354157696	CASR	c.1628C>T (p.Ala543Val) c.1889C>T (p.Ala630Val) c.1859C>T (p.Ala620Val) c.1376C>T (p.Ala459Val) c.1271C>T (p.Ala424Val)
3	g.122283814C>A	CA435251905	CASR	c.1629C>A (p.Ala543=) c.1890C>A (p.Ala630=) c.1860C>A (p.Ala620=) c.1377C>A (p.Ala459=) c.1272C>A (p.Ala424=)
3	g.122283814C=	CA1397871057	CASR	c.1629C= (p.Ala543=) c.1890C= (p.Ala630=) c.1860C= (p.Ala620=) c.1377C= (p.Ala459=) c.1272C= (p.Ala424=)
3	g.122283814C>G	CA435251906	CASR	c.1629C>G (p.Ala543=) c.1890C>G (p.Ala630=) c.1860C>G (p.Ala620=) c.1377C>G (p.Ala459=) c.1272C>G (p.Ala424=)	ClinVar dbSNP
3	g.122283814C>T	CA2569753	CASR	c.1629C>T (p.Ala543=) c.1890C>T (p.Ala630=) c.1860C>T (p.Ala620=) c.1377C>T (p.Ala459=) c.1272C>T (p.Ala424=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122283815del	CA435251907	CASR	c.1630del (p.Val544CysfsTer6) c.1891del (p.Val631CysfsTer6) c.1861del (p.Val621CysfsTer6) c.1378del (p.Val460CysfsTer6) c.1273del (p.Val425CysfsTer6)	COSMIC
3	g.122283815G>A	CA2569754	CASR	c.1630G>A (p.Val544Met) c.1891G>A (p.Val631Met) c.1861G>A (p.Val621Met) c.1378G>A (p.Val460Met) c.1273G>A (p.Val425Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122283815G>C	CA354157697	CASR	c.1630G>C (p.Val544Leu) c.1891G>C (p.Val631Leu) c.1861G>C (p.Val621Leu) c.1378G>C (p.Val460Leu) c.1273G>C (p.Val425Leu)	ClinVar
3	g.122283815G=	CA1397871058	CASR	c.1630G= (p.Val544=) c.1891G= (p.Val631=) c.1861G= (p.Val621=) c.1378G= (p.Val460=) c.1273G= (p.Val425=)
3	g.122283815G>T	CA354157699	CASR	c.1630G>T (p.Val544Leu) c.1891G>T (p.Val631Leu) c.1861G>T (p.Val621Leu) c.1378G>T (p.Val460Leu) c.1273G>T (p.Val425Leu)
3	g.122283816T>A	CA354157707	CASR	c.1631T>A (p.Val544Glu) c.1892T>A (p.Val631Glu) c.1862T>A (p.Val621Glu) c.1379T>A (p.Val460Glu) c.1274T>A (p.Val425Glu)
3	g.122283816T>C	CA354157710	CASR	c.1631T>C (p.Val544Ala) c.1892T>C (p.Val631Ala) c.1862T>C (p.Val621Ala) c.1379T>C (p.Val460Ala) c.1274T>C (p.Val425Ala)
3	g.122283816T>G	CA354157713	CASR	c.1631T>G (p.Val544Gly) c.1892T>G (p.Val631Gly) c.1862T>G (p.Val621Gly) c.1379T>G (p.Val460Gly) c.1274T>G (p.Val425Gly)
3	g.122283817G>A	CA435251908	CASR	c.1632G>A (p.Val544=) c.1893G>A (p.Val631=) c.1863G>A (p.Val621=) c.1380G>A (p.Val460=) c.1275G>A (p.Val425=)
3	g.122283817G>C	CA435251910	CASR	c.1632G>C (p.Val544=) c.1893G>C (p.Val631=) c.1863G>C (p.Val621=) c.1380G>C (p.Val460=) c.1275G>C (p.Val425=)	ClinVar
3	g.122283817G>T	CA435251909	CASR	c.1632G>T (p.Val544=) c.1893G>T (p.Val631=) c.1863G>T (p.Val621=) c.1380G>T (p.Val460=) c.1275G>T (p.Val425=)
3	g.122283818C>A	CA354157720	CASR	c.1633C>A (p.Leu545Met) c.1894C>A (p.Leu632Met) c.1864C>A (p.Leu622Met) c.1381C>A (p.Leu461Met) c.1276C>A (p.Leu426Met)
3	g.122283818C>G	CA354157717	CASR	c.1633C>G (p.Leu545Val) c.1894C>G (p.Leu632Val) c.1864C>G (p.Leu622Val) c.1381C>G (p.Leu461Val) c.1276C>G (p.Leu426Val)
3	g.122283818C>T	CA435251911	CASR	c.1633C>T (p.Leu545=) c.1894C>T (p.Leu632=) c.1864C>T (p.Leu622=) c.1381C>T (p.Leu461=) c.1276C>T (p.Leu426=)	ClinVar
3	g.122283819T>A	CA354157723	CASR	c.1634T>A (p.Leu545Gln) c.1895T>A (p.Leu632Gln) c.1865T>A (p.Leu622Gln) c.1382T>A (p.Leu461Gln) c.1277T>A (p.Leu426Gln)
3	g.122283819T>C	CA354157726	CASR	c.1634T>C (p.Leu545Pro) c.1895T>C (p.Leu632Pro) c.1865T>C (p.Leu622Pro) c.1382T>C (p.Leu461Pro) c.1277T>C (p.Leu426Pro)
3	g.122283819T>G	CA354157730	CASR	c.1634T>G (p.Leu545Arg) c.1895T>G (p.Leu632Arg) c.1865T>G (p.Leu622Arg) c.1382T>G (p.Leu461Arg) c.1277T>G (p.Leu426Arg)
3	g.122283819_122283820delinsTG	CA1397871061	CASR	c.1634_1635delinsTG (p.Leu545=) c.1895_1896delinsTG (p.Leu632=) c.1865_1866delinsTG (p.Leu622=) c.1382_1383delinsTG (p.Leu461=) c.1277_1278delinsTG (p.Leu426=)
3	g.122283820G>A	CA435251912	CASR	c.1635G>A (p.Leu545=) c.1896G>A (p.Leu632=) c.1866G>A (p.Leu622=) c.1383G>A (p.Leu461=) c.1278G>A (p.Leu426=)	dbSNP gnomAD v3 gnomAD v4
3	g.122283820G>C	CA435251913	CASR	c.1635G>C (p.Leu545=) c.1896G>C (p.Leu632=) c.1866G>C (p.Leu622=) c.1383G>C (p.Leu461=) c.1278G>C (p.Leu426=)	gnomAD v4
3	g.122283820G=	CA1397871063	CASR	c.1635G= (p.Leu545=) c.1896G= (p.Leu632=) c.1866G= (p.Leu622=) c.1383G= (p.Leu461=) c.1278G= (p.Leu426=)
3	g.122283820G>T	CA435251914	CASR	c.1635G>T (p.Leu545=) c.1896G>T (p.Leu632=) c.1866G>T (p.Leu622=) c.1383G>T (p.Leu461=) c.1278G>T (p.Leu426=)
3	g.122283822del	CA1052944532	CASR	c.1637del (p.Gly546AlafsTer4) c.1898del (p.Gly633AlafsTer4) c.1868del (p.Gly623AlafsTer4) c.1385del (p.Gly462AlafsTer4) c.1280del (p.Gly427AlafsTer4)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122283821G>A	CA354157733	CASR	c.1636G>A (p.Gly546Ser) c.1897G>A (p.Gly633Ser) c.1867G>A (p.Gly623Ser) c.1384G>A (p.Gly462Ser) c.1279G>A (p.Gly427Ser)
3	g.122283821G>C	CA354157736	CASR	c.1636G>C (p.Gly546Arg) c.1897G>C (p.Gly633Arg) c.1867G>C (p.Gly623Arg) c.1384G>C (p.Gly462Arg) c.1279G>C (p.Gly427Arg)
3	g.122283821G>T	CA354157738	CASR	c.1636G>T (p.Gly546Cys) c.1897G>T (p.Gly633Cys) c.1867G>T (p.Gly623Cys) c.1384G>T (p.Gly462Cys) c.1279G>T (p.Gly427Cys)
3	g.122283822G>A	CA354157742	CASR	c.1637G>A (p.Gly546Asp) c.1898G>A (p.Gly633Asp) c.1868G>A (p.Gly623Asp) c.1385G>A (p.Gly462Asp) c.1280G>A (p.Gly427Asp)	ClinVar dbSNP gnomAD v4
3	g.122283822G>C	CA354157745	CASR	c.1637G>C (p.Gly546Ala) c.1898G>C (p.Gly633Ala) c.1868G>C (p.Gly623Ala) c.1385G>C (p.Gly462Ala) c.1280G>C (p.Gly427Ala)	ClinVar dbSNP
3	g.122283822G>T	CA354157747	CASR	c.1637G>T (p.Gly546Val) c.1898G>T (p.Gly633Val) c.1868G>T (p.Gly623Val) c.1385G>T (p.Gly462Val) c.1280G>T (p.Gly427Val)
3	g.122283823C>A	CA435251915	CASR	c.1638C>A (p.Gly546=) c.1899C>A (p.Gly633=) c.1869C>A (p.Gly623=) c.1386C>A (p.Gly462=) c.1281C>A (p.Gly427=)
3	g.122283823C>G	CA435251916	CASR	c.1638C>G (p.Gly546=) c.1899C>G (p.Gly633=) c.1869C>G (p.Gly623=) c.1386C>G (p.Gly462=) c.1281C>G (p.Gly427=)
3	g.122283823C>T	CA435251917	CASR	c.1638C>T (p.Gly546=) c.1899C>T (p.Gly633=) c.1869C>T (p.Gly623=) c.1386C>T (p.Gly462=) c.1281C>T (p.Gly427=)	gnomAD v4
3	g.122283824A>C	CA354157750	CASR	c.1639A>C (p.Ile547Leu) c.1900A>C (p.Ile634Leu) c.1870A>C (p.Ile624Leu) c.1387A>C (p.Ile463Leu) c.1282A>C (p.Ile428Leu)
3	g.122283824A>G	CA354157753	CASR	c.1639A>G (p.Ile547Val) c.1900A>G (p.Ile634Val) c.1870A>G (p.Ile624Val) c.1387A>G (p.Ile463Val) c.1282A>G (p.Ile428Val)
3	g.122283824A>T	CA354157756	CASR	c.1639A>T (p.Ile547Phe) c.1900A>T (p.Ile634Phe) c.1870A>T (p.Ile624Phe) c.1387A>T (p.Ile463Phe) c.1282A>T (p.Ile428Phe)
3	g.122283825T>A	CA354157769	CASR	c.1640T>A (p.Ile547Asn) c.1901T>A (p.Ile634Asn) c.1871T>A (p.Ile624Asn) c.1388T>A (p.Ile463Asn) c.1283T>A (p.Ile428Asn)
3	g.122283825T>C	CA354157766	CASR	c.1640T>C (p.Ile547Thr) c.1901T>C (p.Ile634Thr) c.1871T>C (p.Ile624Thr) c.1388T>C (p.Ile463Thr) c.1283T>C (p.Ile428Thr)	ClinVar
3	g.122283825T>G	CA354157758	CASR	c.1640T>G (p.Ile547Ser) c.1901T>G (p.Ile634Ser) c.1871T>G (p.Ile624Ser) c.1388T>G (p.Ile463Ser) c.1283T>G (p.Ile428Ser)
3	g.122283826T>A	CA435251919	CASR	c.1641T>A (p.Ile547=) c.1902T>A (p.Ile634=) c.1872T>A (p.Ile624=) c.1389T>A (p.Ile463=) c.1284T>A (p.Ile428=)
3	g.122283826T>C	CA435251918	CASR	c.1641T>C (p.Ile547=) c.1902T>C (p.Ile634=) c.1872T>C (p.Ile624=) c.1389T>C (p.Ile463=) c.1284T>C (p.Ile428=)	ClinVar
3	g.122283826T>G	CA354157772	CASR	c.1641T>G (p.Ile547Met) c.1902T>G (p.Ile634Met) c.1872T>G (p.Ile624Met) c.1389T>G (p.Ile463Met) c.1284T>G (p.Ile428Met)	gnomAD v4
3	g.122283827T>A	CA354157777	CASR	c.1642T>A (p.Phe548Ile) c.1903T>A (p.Phe635Ile) c.1873T>A (p.Phe625Ile) c.1390T>A (p.Phe464Ile) c.1285T>A (p.Phe429Ile)
3	g.122283827T>C	CA354157775	CASR	c.1642T>C (p.Phe548Leu) c.1903T>C (p.Phe635Leu) c.1873T>C (p.Phe625Leu) c.1390T>C (p.Phe464Leu) c.1285T>C (p.Phe429Leu)
3	g.122283827T>G	CA354157778	CASR	c.1642T>G (p.Phe548Val) c.1903T>G (p.Phe635Val) c.1873T>G (p.Phe625Val) c.1390T>G (p.Phe464Val) c.1285T>G (p.Phe429Val)
3	g.122283828T>A	CA354157781	CASR	c.1643T>A (p.Phe548Tyr) c.1904T>A (p.Phe635Tyr) c.1874T>A (p.Phe625Tyr) c.1391T>A (p.Phe464Tyr) c.1286T>A (p.Phe429Tyr)
3	g.122283828T>C	CA354157785	CASR	c.1643T>C (p.Phe548Ser) c.1904T>C (p.Phe635Ser) c.1874T>C (p.Phe625Ser) c.1391T>C (p.Phe464Ser) c.1286T>C (p.Phe429Ser)
3	g.122283828T>G	CA354157783	CASR	c.1643T>G (p.Phe548Cys) c.1904T>G (p.Phe635Cys) c.1874T>G (p.Phe625Cys) c.1391T>G (p.Phe464Cys) c.1286T>G (p.Phe429Cys)
3	g.122283829C>A	CA354157786	CASR	c.1644C>A (p.Phe548Leu) c.1905C>A (p.Phe635Leu) c.1875C>A (p.Phe625Leu) c.1392C>A (p.Phe464Leu) c.1287C>A (p.Phe429Leu)
3	g.122283829C=	CA1397871065	CASR	c.1644C= (p.Phe548=) c.1905C= (p.Phe635=) c.1875C= (p.Phe625=) c.1392C= (p.Phe464=) c.1287C= (p.Phe429=)
3	g.122283829C>G	CA354157788	CASR	c.1644C>G (p.Phe548Leu) c.1905C>G (p.Phe635Leu) c.1875C>G (p.Phe625Leu) c.1392C>G (p.Phe464Leu) c.1287C>G (p.Phe429Leu)
3	g.122283829C>T	CA2569755	CASR	c.1644C>T (p.Phe548=) c.1905C>T (p.Phe635=) c.1875C>T (p.Phe625=) c.1392C>T (p.Phe464=) c.1287C>T (p.Phe429=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3	g.122283830C>A	CA354157792	CASR	c.1645C>A (p.Leu549Met) c.1906C>A (p.Leu636Met) c.1876C>A (p.Leu626Met) c.1393C>A (p.Leu465Met) c.1288C>A (p.Leu430Met)	ClinVar dbSNP gnomAD v4
3	g.122283830C>G	CA354157793	CASR	c.1645C>G (p.Leu549Val) c.1906C>G (p.Leu636Val) c.1876C>G (p.Leu626Val) c.1393C>G (p.Leu465Val) c.1288C>G (p.Leu430Val)
3	g.122283830C>T	CA435251921	CASR	c.1645C>T (p.Leu549=) c.1906C>T (p.Leu636=) c.1876C>T (p.Leu626=) c.1393C>T (p.Leu465=) c.1288C>T (p.Leu430=)
3	g.122283831T>A	CA354157799	CASR	c.1646T>A (p.Leu549Gln) c.1907T>A (p.Leu636Gln) c.1877T>A (p.Leu626Gln) c.1394T>A (p.Leu465Gln) c.1289T>A (p.Leu430Gln)
3	g.122283831T>C	CA354157798	CASR	c.1646T>C (p.Leu549Pro) c.1907T>C (p.Leu636Pro) c.1877T>C (p.Leu626Pro) c.1394T>C (p.Leu465Pro) c.1289T>C (p.Leu430Pro)
3	g.122283831T>G	CA354157796	CASR	c.1646T>G (p.Leu549Arg) c.1907T>G (p.Leu636Arg) c.1877T>G (p.Leu626Arg) c.1394T>G (p.Leu465Arg) c.1289T>G (p.Leu430Arg)
3	g.122283832G>A	CA435251924	CASR	c.1647G>A (p.Leu549=) c.1908G>A (p.Leu636=) c.1878G>A (p.Leu626=) c.1395G>A (p.Leu465=) c.1290G>A (p.Leu430=)	ClinVar
3	g.122283832G>C	CA435251922	CASR	c.1647G>C (p.Leu549=) c.1908G>C (p.Leu636=) c.1878G>C (p.Leu626=) c.1395G>C (p.Leu465=) c.1290G>C (p.Leu430=)
3	g.122283832G>T	CA435251923	CASR	c.1647G>T (p.Leu549=) c.1908G>T (p.Leu636=) c.1878G>T (p.Leu626=) c.1395G>T (p.Leu465=) c.1290G>T (p.Leu430=)
3	g.122283833A>C	CA354157802	CASR	c.1648A>C (p.Thr550Pro) c.1909A>C (p.Thr637Pro) c.1879A>C (p.Thr627Pro) c.1396A>C (p.Thr466Pro) c.1291A>C (p.Thr431Pro)
3	g.122283833A>G	CA354157803	CASR	c.1648A>G (p.Thr550Ala) c.1909A>G (p.Thr637Ala) c.1879A>G (p.Thr627Ala) c.1396A>G (p.Thr466Ala) c.1291A>G (p.Thr431Ala)	ClinVar
3	g.122283833A>T	CA354157805	CASR	c.1648A>T (p.Thr550Ser) c.1909A>T (p.Thr637Ser) c.1879A>T (p.Thr627Ser) c.1396A>T (p.Thr466Ser) c.1291A>T (p.Thr431Ser)
3	g.122283834C>A	CA354157807	CASR	c.1649C>A (p.Thr550Lys) c.1910C>A (p.Thr637Lys) c.1880C>A (p.Thr627Lys) c.1397C>A (p.Thr466Lys) c.1292C>A (p.Thr431Lys)	ClinVar dbSNP
3	g.122283834C=	CA1397871067	CASR	c.1649C= (p.Thr550=) c.1910C= (p.Thr637=) c.1880C= (p.Thr627=) c.1397C= (p.Thr466=) c.1292C= (p.Thr431=)
3	g.122283834C>G	CA354157809	CASR	c.1649C>G (p.Thr550Arg) c.1910C>G (p.Thr637Arg) c.1880C>G (p.Thr627Arg) c.1397C>G (p.Thr466Arg) c.1292C>G (p.Thr431Arg)
3	g.122283834C>T	CA354157811	CASR	c.1649C>T (p.Thr550Ile) c.1910C>T (p.Thr637Ile) c.1880C>T (p.Thr627Ile) c.1397C>T (p.Thr466Ile) c.1292C>T (p.Thr431Ile)	ClinVar dbSNP
3	g.122283835A=	CA1397871071	CASR	c.1650A= (p.Thr550=) c.1911A= (p.Thr637=) c.1881A= (p.Thr627=) c.1398A= (p.Thr466=) c.1293A= (p.Thr431=)
3	g.122283835A>C	CA435251926	CASR	c.1650A>C (p.Thr550=) c.1911A>C (p.Thr637=) c.1881A>C (p.Thr627=) c.1398A>C (p.Thr466=) c.1293A>C (p.Thr431=)
3	g.122283835A>G	CA435251927	CASR	c.1650A>G (p.Thr550=) c.1911A>G (p.Thr637=) c.1881A>G (p.Thr627=) c.1398A>G (p.Thr466=) c.1293A>G (p.Thr431=)
3	g.122283835A>T	CA435251928	CASR	c.1650A>T (p.Thr550=) c.1911A>T (p.Thr637=) c.1881A>T (p.Thr627=) c.1398A>T (p.Thr466=) c.1293A>T (p.Thr431=)	dbSNP
3	g.122283836G>A	CA354157814	CASR	c.1651G>A (p.Ala551Thr) c.1912G>A (p.Ala638Thr) c.1882G>A (p.Ala628Thr) c.1399G>A (p.Ala467Thr) c.1294G>A (p.Ala432Thr)
3	g.122283836G>C	CA354157818	CASR	c.1651G>C (p.Ala551Pro) c.1912G>C (p.Ala638Pro) c.1882G>C (p.Ala628Pro) c.1399G>C (p.Ala467Pro) c.1294G>C (p.Ala432Pro)
3	g.122283836G>T	CA354157815	CASR	c.1651G>T (p.Ala551Ser) c.1912G>T (p.Ala638Ser) c.1882G>T (p.Ala628Ser) c.1399G>T (p.Ala467Ser) c.1294G>T (p.Ala432Ser)
3	g.122283836_122283837delinsGC	CA1397871073	CASR	c.1651_1652delinsGC (p.Ala551=) c.1912_1913delinsGC (p.Ala638=) c.1882_1883delinsGC (p.Ala628=) c.1399_1400delinsGC (p.Ala467=) c.1294_1295delinsGC (p.Ala432=)
3	g.122283837C>A	CA354157821	CASR	c.1652C>A (p.Ala551Asp) c.1913C>A (p.Ala638Asp) c.1883C>A (p.Ala628Asp) c.1400C>A (p.Ala467Asp) c.1295C>A (p.Ala432Asp)
3	g.122283837C>G	CA354157822	CASR	c.1652C>G (p.Ala551Gly) c.1913C>G (p.Ala638Gly) c.1883C>G (p.Ala628Gly) c.1400C>G (p.Ala467Gly) c.1295C>G (p.Ala432Gly)
3	g.122283837C>T	CA354157825	CASR	c.1652C>T (p.Ala551Val) c.1913C>T (p.Ala638Val) c.1883C>T (p.Ala628Val) c.1400C>T (p.Ala467Val) c.1295C>T (p.Ala432Val)	ClinVar gnomAD v4
3	g.122283838del	CA213574	CASR	c.1653del (p.Phe552LeufsTer?) c.1914del (p.Phe639LeufsTer?) c.1884del (p.Phe629LeufsTer?) c.1401del (p.Phe468LeufsTer?) c.1296del (p.Phe433LeufsTer?)	ClinVar dbSNP
3	g.122283838C>A	CA2569756	CASR	c.1653C>A (p.Ala551=) c.1914C>A (p.Ala638=) c.1884C>A (p.Ala628=) c.1401C>A (p.Ala467=) c.1296C>A (p.Ala432=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122283838C=	CA1397871078	CASR	c.1653C= (p.Ala551=) c.1914C= (p.Ala638=) c.1884C= (p.Ala628=) c.1401C= (p.Ala467=) c.1296C= (p.Ala432=)
3	g.122283838C>G	CA435251932	CASR	c.1653C>G (p.Ala551=) c.1914C>G (p.Ala638=) c.1884C>G (p.Ala628=) c.1401C>G (p.Ala467=) c.1296C>G (p.Ala432=)
3	g.122283838C>T	CA435251933	CASR	c.1653C>T (p.Ala551=) c.1914C>T (p.Ala638=) c.1884C>T (p.Ala628=) c.1401C>T (p.Ala467=) c.1296C>T (p.Ala432=)	ClinVar
3	g.122283839T>A	CA354157830	CASR	c.1654T>A (p.Phe552Ile) c.1915T>A (p.Phe639Ile) c.1885T>A (p.Phe629Ile) c.1402T>A (p.Phe468Ile) c.1297T>A (p.Phe433Ile)
3	g.122283839T>C	CA354157832	CASR	c.1654T>C (p.Phe552Leu) c.1915T>C (p.Phe639Leu) c.1885T>C (p.Phe629Leu) c.1402T>C (p.Phe468Leu) c.1297T>C (p.Phe433Leu)
3	g.122283839T>G	CA354157834	CASR	c.1654T>G (p.Phe552Val) c.1915T>G (p.Phe639Val) c.1885T>G (p.Phe629Val) c.1402T>G (p.Phe468Val) c.1297T>G (p.Phe433Val)
3	g.122283840T>A	CA354157836	CASR	c.1655T>A (p.Phe552Tyr) c.1916T>A (p.Phe639Tyr) c.1886T>A (p.Phe629Tyr) c.1403T>A (p.Phe468Tyr) c.1298T>A (p.Phe433Tyr)
3	g.122283840T>C	CA354157838	CASR	c.1655T>C (p.Phe552Ser) c.1916T>C (p.Phe639Ser) c.1886T>C (p.Phe629Ser) c.1403T>C (p.Phe468Ser) c.1298T>C (p.Phe433Ser)	gnomAD v4
3	g.122283840T>G	CA354157840	CASR	c.1655T>G (p.Phe552Cys) c.1916T>G (p.Phe639Cys) c.1886T>G (p.Phe629Cys) c.1403T>G (p.Phe468Cys) c.1298T>G (p.Phe433Cys)
3	g.122283841T>A	CA354157843	CASR	c.1656T>A (p.Phe552Leu) c.1917T>A (p.Phe639Leu) c.1887T>A (p.Phe629Leu) c.1404T>A (p.Phe468Leu) c.1299T>A (p.Phe433Leu)
3	g.122283841T>C	CA2569757	CASR	c.1656T>C (p.Phe552=) c.1917T>C (p.Phe639=) c.1887T>C (p.Phe629=) c.1404T>C (p.Phe468=) c.1299T>C (p.Phe433=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122283841T>G	CA354157845	CASR	c.1656T>G (p.Phe552Leu) c.1917T>G (p.Phe639Leu) c.1887T>G (p.Phe629Leu) c.1404T>G (p.Phe468Leu) c.1299T>G (p.Phe433Leu)
3	g.122283841T=	CA1397871081	CASR	c.1656T= (p.Phe552=) c.1917T= (p.Phe639=) c.1887T= (p.Phe629=) c.1404T= (p.Phe468=) c.1299T= (p.Phe433=)
3	g.122283842G>A	CA354157847	CASR	c.1657G>A (p.Val553Met) c.1918G>A (p.Val640Met) c.1888G>A (p.Val630Met) c.1405G>A (p.Val469Met) c.1300G>A (p.Val434Met)	ClinVar dbSNP gnomAD v4
3	g.122283842G>C	CA354157849	CASR	c.1657G>C (p.Val553Leu) c.1918G>C (p.Val640Leu) c.1888G>C (p.Val630Leu) c.1405G>C (p.Val469Leu) c.1300G>C (p.Val434Leu)	ClinVar dbSNP
3	g.122283842G=	CA1397871086	CASR	c.1657G= (p.Val553=) c.1918G= (p.Val640=) c.1888G= (p.Val630=) c.1405G= (p.Val469=) c.1300G= (p.Val434=)
3	g.122283842G>T	CA354157851	CASR	c.1657G>T (p.Val553Leu) c.1918G>T (p.Val640Leu) c.1888G>T (p.Val630Leu) c.1405G>T (p.Val469Leu) c.1300G>T (p.Val434Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122283843T>A	CA354157853	CASR	c.1658T>A (p.Val553Glu) c.1919T>A (p.Val640Glu) c.1889T>A (p.Val630Glu) c.1406T>A (p.Val469Glu) c.1301T>A (p.Val434Glu)
3	g.122283843T>C	CA354157855	CASR	c.1658T>C (p.Val553Ala) c.1919T>C (p.Val640Ala) c.1889T>C (p.Val630Ala) c.1406T>C (p.Val469Ala) c.1301T>C (p.Val434Ala)
3	g.122283843T>G	CA354157857	CASR	c.1658T>G (p.Val553Gly) c.1919T>G (p.Val640Gly) c.1889T>G (p.Val630Gly) c.1406T>G (p.Val469Gly) c.1301T>G (p.Val434Gly)
3	g.122283844G>A	CA435251938	CASR	c.1659G>A (p.Val553=) c.1920G>A (p.Val640=) c.1890G>A (p.Val630=) c.1407G>A (p.Val469=) c.1302G>A (p.Val434=)
3	g.122283844G>C	CA435251940	CASR	c.1659G>C (p.Val553=) c.1920G>C (p.Val640=) c.1890G>C (p.Val630=) c.1407G>C (p.Val469=) c.1302G>C (p.Val434=)
3	g.122283844G>T	CA435251941	CASR	c.1659G>T (p.Val553=) c.1920G>T (p.Val640=) c.1890G>T (p.Val630=) c.1407G>T (p.Val469=) c.1302G>T (p.Val434=)
3	g.122283845_122283849del	CA2586972859	CASR	c.1660_1664del (p.Leu554CysfsTer?) c.1921_1925del (p.Leu641CysfsTer?) c.1891_1895del (p.Leu631CysfsTer?) c.1408_1412del (p.Leu470CysfsTer?) c.1303_1307del (p.Leu435CysfsTer?)
3	g.122283845C>A	CA354157859	CASR	c.1660C>A (p.Leu554Met) c.1921C>A (p.Leu641Met) c.1891C>A (p.Leu631Met) c.1408C>A (p.Leu470Met) c.1303C>A (p.Leu435Met)
3	g.122283845C=	CA1397871095	CASR	c.1660C= (p.Leu554=) c.1921C= (p.Leu641=) c.1891C= (p.Leu631=) c.1408C= (p.Leu470=) c.1303C= (p.Leu435=)
3	g.122283845C>G	CA2569758	CASR	c.1660C>G (p.Leu554Val) c.1921C>G (p.Leu641Val) c.1891C>G (p.Leu631Val) c.1408C>G (p.Leu470Val) c.1303C>G (p.Leu435Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122283845C>T	CA435251942	CASR	c.1660C>T (p.Leu554=) c.1921C>T (p.Leu641=) c.1891C>T (p.Leu631=) c.1408C>T (p.Leu470=) c.1303C>T (p.Leu435=)	ClinVar
3	g.122283846T>A	CA354157862	CASR	c.1661T>A (p.Leu554Gln) c.1922T>A (p.Leu641Gln) c.1892T>A (p.Leu631Gln) c.1409T>A (p.Leu470Gln) c.1304T>A (p.Leu435Gln)
3	g.122283846T>C	CA354157864	CASR	c.1661T>C (p.Leu554Pro) c.1922T>C (p.Leu641Pro) c.1892T>C (p.Leu631Pro) c.1409T>C (p.Leu470Pro) c.1304T>C (p.Leu435Pro)
3	g.122283846T>G	CA354157866	CASR	c.1661T>G (p.Leu554Arg) c.1922T>G (p.Leu641Arg) c.1892T>G (p.Leu631Arg) c.1409T>G (p.Leu470Arg) c.1304T>G (p.Leu435Arg)
3	g.122283847G>A	CA435251946	CASR	c.1662G>A (p.Leu554=) c.1923G>A (p.Leu641=) c.1893G>A (p.Leu631=) c.1410G>A (p.Leu470=) c.1305G>A (p.Leu435=)	ClinVar dbSNP
3	g.122283847G>C	CA435251945	CASR	c.1662G>C (p.Leu554=) c.1923G>C (p.Leu641=) c.1893G>C (p.Leu631=) c.1410G>C (p.Leu470=) c.1305G>C (p.Leu435=)
3	g.122283847G>T	CA435251944	CASR	c.1662G>T (p.Leu554=) c.1923G>T (p.Leu641=) c.1893G>T (p.Leu631=) c.1410G>T (p.Leu470=) c.1305G>T (p.Leu435=)
3	g.122283848G>A	CA354157869	CASR	c.1663G>A (p.Gly555Ser) c.1924G>A (p.Gly642Ser) c.1894G>A (p.Gly632Ser) c.1411G>A (p.Gly471Ser) c.1306G>A (p.Gly436Ser)	ClinVar dbSNP
3	g.122283848G>C	CA354157868	CASR	c.1663G>C (p.Gly555Arg) c.1924G>C (p.Gly642Arg) c.1894G>C (p.Gly632Arg) c.1411G>C (p.Gly471Arg) c.1306G>C (p.Gly436Arg)
3	g.122283848G=	CA1397871101	CASR	c.1663G= (p.Gly555=) c.1924G= (p.Gly642=) c.1894G= (p.Gly632=) c.1411G= (p.Gly471=) c.1306G= (p.Gly436=)
3	g.122283848G>T	CA354157867	CASR	c.1663G>T (p.Gly555Cys) c.1924G>T (p.Gly642Cys) c.1894G>T (p.Gly632Cys) c.1411G>T (p.Gly471Cys) c.1306G>T (p.Gly436Cys)
3	g.122283849G>A	CA354157872	CASR	c.1664G>A (p.Gly555Asp) c.1925G>A (p.Gly642Asp) c.1895G>A (p.Gly632Asp) c.1412G>A (p.Gly471Asp) c.1307G>A (p.Gly436Asp)	dbSNP
3	g.122283849G>C	CA354157873	CASR	c.1664G>C (p.Gly555Ala) c.1925G>C (p.Gly642Ala) c.1895G>C (p.Gly632Ala) c.1412G>C (p.Gly471Ala) c.1307G>C (p.Gly436Ala)	ClinVar
3	g.122283849G=	CA1397871103	CASR	c.1664G= (p.Gly555=) c.1925G= (p.Gly642=) c.1895G= (p.Gly632=) c.1412G= (p.Gly471=) c.1307G= (p.Gly436=)
3	g.122283849G>T	CA354157875	CASR	c.1664G>T (p.Gly555Val) c.1925G>T (p.Gly642Val) c.1895G>T (p.Gly632Val) c.1412G>T (p.Gly471Val) c.1307G>T (p.Gly436Val)	gnomAD v4
3	g.122283853_122283854del	CA2586972860	CASR	c.1668_1669del (p.Phe557TyrfsTer?) c.1929_1930del (p.Phe644TyrfsTer?) c.1899_1900del (p.Phe634TyrfsTer?) c.1416_1417del (p.Phe473TyrfsTer?) c.1311_1312del (p.Phe438TyrfsTer?)
3	g.122283850T>A	CA435251950	CASR	c.1665T>A (p.Gly555=) c.1926T>A (p.Gly642=) c.1896T>A (p.Gly632=) c.1413T>A (p.Gly471=) c.1308T>A (p.Gly436=)
3	g.122283850T>C	CA435251951	CASR	c.1665T>C (p.Gly555=) c.1926T>C (p.Gly642=) c.1896T>C (p.Gly632=) c.1413T>C (p.Gly471=) c.1308T>C (p.Gly436=)
3	g.122283850T>G	CA435251952	CASR	c.1665T>G (p.Gly555=) c.1926T>G (p.Gly642=) c.1896T>G (p.Gly632=) c.1413T>G (p.Gly471=) c.1308T>G (p.Gly436=)
3	g.122283850T=	CA1397871106	CASR	c.1665T= (p.Gly555=) c.1926T= (p.Gly642=) c.1896T= (p.Gly632=) c.1413T= (p.Gly471=) c.1308T= (p.Gly436=)
3	g.122283851G>A	CA354157878	CASR	c.1666G>A (p.Val556Met) c.1927G>A (p.Val643Met) c.1897G>A (p.Val633Met) c.1414G>A (p.Val472Met) c.1309G>A (p.Val437Met)
3	g.122283851G>C	CA354157879	CASR	c.1666G>C (p.Val556Leu) c.1927G>C (p.Val643Leu) c.1897G>C (p.Val633Leu) c.1414G>C (p.Val472Leu) c.1309G>C (p.Val437Leu)
3	g.122283851G>T	CA354157881	CASR	c.1666G>T (p.Val556Leu) c.1927G>T (p.Val643Leu) c.1897G>T (p.Val633Leu) c.1414G>T (p.Val472Leu) c.1309G>T (p.Val437Leu)
3	g.122283852_122283886dup	CA1139658226	CASR	c.1667_1701dup (p.Ala568CysfsTer?) c.1928_1962dup (p.Ala655CysfsTer?) c.1898_1932dup (p.Ala645CysfsTer?) c.1415_1449dup (p.Ala484CysfsTer?) c.1310_1344dup (p.Ala449CysfsTer?)	ClinVar dbSNP
3	g.122283852T>A	CA354157884	CASR	c.1667T>A (p.Val556Glu) c.1928T>A (p.Val643Glu) c.1898T>A (p.Val633Glu) c.1415T>A (p.Val472Glu) c.1310T>A (p.Val437Glu)	ClinVar
3	g.122283852T>C	CA354157885	CASR	c.1667T>C (p.Val556Ala) c.1928T>C (p.Val643Ala) c.1898T>C (p.Val633Ala) c.1415T>C (p.Val472Ala) c.1310T>C (p.Val437Ala)
3	g.122283852T>G	CA354157887	CASR	c.1667T>G (p.Val556Gly) c.1928T>G (p.Val643Gly) c.1898T>G (p.Val633Gly) c.1415T>G (p.Val472Gly) c.1310T>G (p.Val437Gly)	ClinVar
3	g.122283853G>A	CA435251956	CASR	c.1668G>A (p.Val556=) c.1929G>A (p.Val643=) c.1899G>A (p.Val633=) c.1416G>A (p.Val472=) c.1311G>A (p.Val437=)
3	g.122283853G>C	CA435251957	CASR	c.1668G>C (p.Val556=) c.1929G>C (p.Val643=) c.1899G>C (p.Val633=) c.1416G>C (p.Val472=) c.1311G>C (p.Val437=)
3	g.122283853G>T	CA435251958	CASR	c.1668G>T (p.Val556=) c.1929G>T (p.Val643=) c.1899G>T (p.Val633=) c.1416G>T (p.Val472=) c.1311G>T (p.Val437=)
3	g.122283854T>A	CA354157890	CASR	c.1669T>A (p.Phe557Ile) c.1930T>A (p.Phe644Ile) c.1900T>A (p.Phe634Ile) c.1417T>A (p.Phe473Ile) c.1312T>A (p.Phe438Ile)
3	g.122283854T>C	CA354157891	CASR	c.1669T>C (p.Phe557Leu) c.1930T>C (p.Phe644Leu) c.1900T>C (p.Phe634Leu) c.1417T>C (p.Phe473Leu) c.1312T>C (p.Phe438Leu)
3	g.122283854T>G	CA354157893	CASR	c.1669T>G (p.Phe557Val) c.1930T>G (p.Phe644Val) c.1900T>G (p.Phe634Val) c.1417T>G (p.Phe473Val) c.1312T>G (p.Phe438Val)	dbSNP gnomAD v2 gnomAD v4
3	g.122283854T=	CA1397871116	CASR	c.1669T= (p.Phe557=) c.1930T= (p.Phe644=) c.1900T= (p.Phe634=) c.1417T= (p.Phe473=) c.1312T= (p.Phe438=)
3	g.122283856dup	CA2580068639	CASR	c.1671dup (p.Ile558TyrfsTer?) c.1932dup (p.Ile645TyrfsTer?) c.1902dup (p.Ile635TyrfsTer?) c.1419dup (p.Ile474TyrfsTer?) c.1314dup (p.Ile439TyrfsTer?)	ClinVar
3	g.122283855T>A	CA354157898	CASR	c.1670T>A (p.Phe557Tyr) c.1931T>A (p.Phe644Tyr) c.1901T>A (p.Phe634Tyr) c.1418T>A (p.Phe473Tyr) c.1313T>A (p.Phe438Tyr)
3	g.122283855T>C	CA354157900	CASR	c.1670T>C (p.Phe557Ser) c.1931T>C (p.Phe644Ser) c.1901T>C (p.Phe634Ser) c.1418T>C (p.Phe473Ser) c.1313T>C (p.Phe438Ser)	ClinVar dbSNP
3	g.122283855T>G	CA354157896	CASR	c.1670T>G (p.Phe557Cys) c.1931T>G (p.Phe644Cys) c.1901T>G (p.Phe634Cys) c.1418T>G (p.Phe473Cys) c.1313T>G (p.Phe438Cys)
3	g.122283856T>A	CA354157904	CASR	c.1671T>A (p.Phe557Leu) c.1932T>A (p.Phe644Leu) c.1902T>A (p.Phe634Leu) c.1419T>A (p.Phe473Leu) c.1314T>A (p.Phe438Leu)
3	g.122283856T>C	CA435251962	CASR	c.1671T>C (p.Phe557=) c.1932T>C (p.Phe644=) c.1902T>C (p.Phe634=) c.1419T>C (p.Phe473=) c.1314T>C (p.Phe438=)
3	g.122283856T>G	CA354157902	CASR	c.1671T>G (p.Phe557Leu) c.1932T>G (p.Phe644Leu) c.1902T>G (p.Phe634Leu) c.1419T>G (p.Phe473Leu) c.1314T>G (p.Phe438Leu)
3	g.122283857A=	CA1397871118	CASR	c.1672A= (p.Ile558=) c.1933A= (p.Ile645=) c.1903A= (p.Ile635=) c.1420A= (p.Ile474=) c.1315A= (p.Ile439=)
3	g.122283857A>C	CA354157906	CASR	c.1672A>C (p.Ile558Leu) c.1933A>C (p.Ile645Leu) c.1903A>C (p.Ile635Leu) c.1420A>C (p.Ile474Leu) c.1315A>C (p.Ile439Leu)	ClinVar dbSNP gnomAD v4
3	g.122283857A>G	CA354157908	CASR	c.1672A>G (p.Ile558Val) c.1933A>G (p.Ile645Val) c.1903A>G (p.Ile635Val) c.1420A>G (p.Ile474Val) c.1315A>G (p.Ile439Val)	ClinVar dbSNP
3	g.122283857A>T	CA354157910	CASR	c.1672A>T (p.Ile558Phe) c.1933A>T (p.Ile645Phe) c.1903A>T (p.Ile635Phe) c.1420A>T (p.Ile474Phe) c.1315A>T (p.Ile439Phe)
3	g.122283858T>A	CA354157912	CASR	c.1673T>A (p.Ile558Asn) c.1934T>A (p.Ile645Asn) c.1904T>A (p.Ile635Asn) c.1421T>A (p.Ile474Asn) c.1316T>A (p.Ile439Asn)
3	g.122283858T>C	CA354157914	CASR	c.1673T>C (p.Ile558Thr) c.1934T>C (p.Ile645Thr) c.1904T>C (p.Ile635Thr) c.1421T>C (p.Ile474Thr) c.1316T>C (p.Ile439Thr)
3	g.122283858T>G	CA354157916	CASR	c.1673T>G (p.Ile558Ser) c.1934T>G (p.Ile645Ser) c.1904T>G (p.Ile635Ser) c.1421T>G (p.Ile474Ser) c.1316T>G (p.Ile439Ser)
3	g.122283859C>A	CA435251963	CASR	c.1674C>A (p.Ile558=) c.1935C>A (p.Ile645=) c.1905C>A (p.Ile635=) c.1422C>A (p.Ile474=) c.1317C>A (p.Ile439=)
3	g.122283859C=	CA1397871120	CASR	c.1674C= (p.Ile558=) c.1935C= (p.Ile645=) c.1905C= (p.Ile635=) c.1422C= (p.Ile474=) c.1317C= (p.Ile439=)
3	g.122283859C>G	CA354157917	CASR	c.1674C>G (p.Ile558Met) c.1935C>G (p.Ile645Met) c.1905C>G (p.Ile635Met) c.1422C>G (p.Ile474Met) c.1317C>G (p.Ile439Met)	dbSNP gnomAD v2 gnomAD v4
3	g.122283859C>T	CA435251964	CASR	c.1674C>T (p.Ile558=) c.1935C>T (p.Ile645=) c.1905C>T (p.Ile635=) c.1422C>T (p.Ile474=) c.1317C>T (p.Ile439=)
3	g.122283860A=	CA1397871124	CASR	c.1675A= (p.Lys559=) c.1936A= (p.Lys646=) c.1906A= (p.Lys636=) c.1423A= (p.Lys475=) c.1318A= (p.Lys440=)
3	g.122283860A>C	CA354157919	CASR	c.1675A>C (p.Lys559Gln) c.1936A>C (p.Lys646Gln) c.1906A>C (p.Lys636Gln) c.1423A>C (p.Lys475Gln) c.1318A>C (p.Lys440Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122283860A>G	CA2569759	CASR	c.1675A>G (p.Lys559Glu) c.1936A>G (p.Lys646Glu) c.1906A>G (p.Lys636Glu) c.1423A>G (p.Lys475Glu) c.1318A>G (p.Lys440Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122283860A>T	CA354157922	CASR	c.1675A>T (p.Lys559Ter) c.1936A>T (p.Lys646Ter) c.1906A>T (p.Lys636Ter) c.1423A>T (p.Lys475Ter) c.1318A>T (p.Lys440Ter)	ClinVar
3	g.122283861A>C	CA354157929	CASR	c.1676A>C (p.Lys559Thr) c.1937A>C (p.Lys646Thr) c.1907A>C (p.Lys636Thr) c.1424A>C (p.Lys475Thr) c.1319A>C (p.Lys440Thr)
3	g.122283861A>G	CA354157927	CASR	c.1676A>G (p.Lys559Arg) c.1937A>G (p.Lys646Arg) c.1907A>G (p.Lys636Arg) c.1424A>G (p.Lys475Arg) c.1319A>G (p.Lys440Arg)
3	g.122283861A>T	CA354157925	CASR	c.1676A>T (p.Lys559Met) c.1937A>T (p.Lys646Met) c.1907A>T (p.Lys636Met) c.1424A>T (p.Lys475Met) c.1319A>T (p.Lys440Met)
3	g.122283862G>A	CA435251966	CASR	c.1677G>A (p.Lys559=) c.1938G>A (p.Lys646=) c.1908G>A (p.Lys636=) c.1425G>A (p.Lys475=) c.1320G>A (p.Lys440=)	ClinVar gnomAD v4
3	g.122283862G>C	CA354157931	CASR	c.1677G>C (p.Lys559Asn) c.1938G>C (p.Lys646Asn) c.1908G>C (p.Lys636Asn) c.1425G>C (p.Lys475Asn) c.1320G>C (p.Lys440Asn)	ClinVar
3	g.122283862G>T	CA354157933	CASR	c.1677G>T (p.Lys559Asn) c.1938G>T (p.Lys646Asn) c.1908G>T (p.Lys636Asn) c.1425G>T (p.Lys475Asn) c.1320G>T (p.Lys440Asn)
3	g.122283863T>A	CA354157935	CASR	c.1678T>A (p.Phe560Ile) c.1939T>A (p.Phe647Ile) c.1909T>A (p.Phe637Ile) c.1426T>A (p.Phe476Ile) c.1321T>A (p.Phe441Ile)
3	g.122283863T>C	CA354157937	CASR	c.1678T>C (p.Phe560Leu) c.1939T>C (p.Phe647Leu) c.1909T>C (p.Phe637Leu) c.1426T>C (p.Phe476Leu) c.1321T>C (p.Phe441Leu)
3	g.122283863T>G	CA354157938	CASR	c.1678T>G (p.Phe560Val) c.1939T>G (p.Phe647Val) c.1909T>G (p.Phe637Val) c.1426T>G (p.Phe476Val) c.1321T>G (p.Phe441Val)
3	g.122283864T>A	CA354157940	CASR	c.1679T>A (p.Phe560Tyr) c.1940T>A (p.Phe647Tyr) c.1910T>A (p.Phe637Tyr) c.1427T>A (p.Phe476Tyr) c.1322T>A (p.Phe441Tyr)
3	g.122283864T>C	CA354157941	CASR	c.1679T>C (p.Phe560Ser) c.1940T>C (p.Phe647Ser) c.1910T>C (p.Phe637Ser) c.1427T>C (p.Phe476Ser) c.1322T>C (p.Phe441Ser)	gnomAD v4
3	g.122283864T>G	CA354157942	CASR	c.1679T>G (p.Phe560Cys) c.1940T>G (p.Phe647Cys) c.1910T>G (p.Phe637Cys) c.1427T>G (p.Phe476Cys) c.1322T>G (p.Phe441Cys)
3	g.122283865C>A	CA354157945	CASR	c.1680C>A (p.Phe560Leu) c.1941C>A (p.Phe647Leu) c.1911C>A (p.Phe637Leu) c.1428C>A (p.Phe476Leu) c.1323C>A (p.Phe441Leu)
3	g.122283865C=	CA1397871127	CASR	c.1680C= (p.Phe560=) c.1941C= (p.Phe647=) c.1911C= (p.Phe637=) c.1428C= (p.Phe476=) c.1323C= (p.Phe441=)
3	g.122283865C>G	CA354157947	CASR	c.1680C>G (p.Phe560Leu) c.1941C>G (p.Phe647Leu) c.1911C>G (p.Phe637Leu) c.1428C>G (p.Phe476Leu) c.1323C>G (p.Phe441Leu)	ClinVar dbSNP
3	g.122283865C>T	CA435251970	CASR	c.1680C>T (p.Phe560=) c.1941C>T (p.Phe647=) c.1911C>T (p.Phe637=) c.1428C>T (p.Phe476=) c.1323C>T (p.Phe441=)	COSMIC
3	g.122283866C>A	CA354157949	CASR	c.1681C>A (p.Arg561Ser) c.1942C>A (p.Arg648Ser) c.1912C>A (p.Arg638Ser) c.1429C>A (p.Arg477Ser) c.1324C>A (p.Arg442Ser)
3	g.122283866C=	CA1397871132	CASR	c.1681C= (p.Arg561=) c.1942C= (p.Arg648=) c.1912C= (p.Arg638=) c.1429C= (p.Arg477=) c.1324C= (p.Arg442=)
3	g.122283866C>G	CA354157952	CASR	c.1681C>G (p.Arg561Gly) c.1942C>G (p.Arg648Gly) c.1912C>G (p.Arg638Gly) c.1429C>G (p.Arg477Gly) c.1324C>G (p.Arg442Gly)
3	g.122283866C>T	CA354157953	CASR	c.1681C>T (p.Arg561Cys) c.1942C>T (p.Arg648Cys) c.1912C>T (p.Arg638Cys) c.1429C>T (p.Arg477Cys) c.1324C>T (p.Arg442Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3	g.122283867G>A	CA2569760	CASR	c.1682G>A (p.Arg561His) c.1943G>A (p.Arg648His) c.1913G>A (p.Arg638His) c.1430G>A (p.Arg477His) c.1325G>A (p.Arg442His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122283867G>C	CA354157957	CASR	c.1682G>C (p.Arg561Pro) c.1943G>C (p.Arg648Pro) c.1913G>C (p.Arg638Pro) c.1430G>C (p.Arg477Pro) c.1325G>C (p.Arg442Pro)
3	g.122283867G=	CA1397871148	CASR	c.1682G= (p.Arg561=) c.1943G= (p.Arg648=) c.1913G= (p.Arg638=) c.1430G= (p.Arg477=) c.1325G= (p.Arg442=)
3	g.122283867G>T	CA10588349	CASR	c.1682G>T (p.Arg561Leu) c.1943G>T (p.Arg648Leu) c.1913G>T (p.Arg638Leu) c.1430G>T (p.Arg477Leu) c.1325G>T (p.Arg442Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122283867dup	CA915941530	CASR	c.1682dup (p.Asn562GlnfsTer?) c.1943dup (p.Asn649GlnfsTer?) c.1913dup (p.Asn639GlnfsTer?) c.1430dup (p.Asn478GlnfsTer?) c.1325dup (p.Asn443GlnfsTer?)	ClinVar dbSNP
3	g.122283868C>A	CA435251974	CASR	c.1683C>A (p.Arg561=) c.1944C>A (p.Arg648=) c.1914C>A (p.Arg638=) c.1431C>A (p.Arg477=) c.1326C>A (p.Arg442=)	ClinVar
3	g.122283868C=	CA1397871153	CASR	c.1683C= (p.Arg561=) c.1944C= (p.Arg648=) c.1914C= (p.Arg638=) c.1431C= (p.Arg477=) c.1326C= (p.Arg442=)
3	g.122283868C>G	CA435251973	CASR	c.1683C>G (p.Arg561=) c.1944C>G (p.Arg648=) c.1914C>G (p.Arg638=) c.1431C>G (p.Arg477=) c.1326C>G (p.Arg442=)
3	g.122283868C>T	CA2569761	CASR	c.1683C>T (p.Arg561=) c.1944C>T (p.Arg648=) c.1914C>T (p.Arg638=) c.1431C>T (p.Arg477=) c.1326C>T (p.Arg442=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122283869A>C	CA354157961	CASR	c.1684A>C (p.Asn562His) c.1945A>C (p.Asn649His) c.1915A>C (p.Asn639His) c.1432A>C (p.Asn478His) c.1327A>C (p.Asn443His)	gnomAD v4
3	g.122283869A>G	CA354157963	CASR	c.1684A>G (p.Asn562Asp) c.1945A>G (p.Asn649Asp) c.1915A>G (p.Asn639Asp) c.1432A>G (p.Asn478Asp) c.1327A>G (p.Asn443Asp)
3	g.122283869A>T	CA354157964	CASR	c.1684A>T (p.Asn562Tyr) c.1945A>T (p.Asn649Tyr) c.1915A>T (p.Asn639Tyr) c.1432A>T (p.Asn478Tyr) c.1327A>T (p.Asn443Tyr)
3	g.122283870A=	CA1397871159	CASR	c.1685A= (p.Asn562=) c.1946A= (p.Asn649=) c.1916A= (p.Asn639=) c.1433A= (p.Asn478=) c.1328A= (p.Asn443=)
3	g.122283870A>C	CA354157967	CASR	c.1685A>C (p.Asn562Thr) c.1946A>C (p.Asn649Thr) c.1916A>C (p.Asn639Thr) c.1433A>C (p.Asn478Thr) c.1328A>C (p.Asn443Thr)
3	g.122283870A>G	CA354157969	CASR	c.1685A>G (p.Asn562Ser) c.1946A>G (p.Asn649Ser) c.1916A>G (p.Asn639Ser) c.1433A>G (p.Asn478Ser) c.1328A>G (p.Asn443Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122283870A>T	CA354157970	CASR	c.1685A>T (p.Asn562Ile) c.1946A>T (p.Asn649Ile) c.1916A>T (p.Asn639Ile) c.1433A>T (p.Asn478Ile) c.1328A>T (p.Asn443Ile)	ClinVar
3	g.122283871C>A	CA354157973	CASR	c.1686C>A (p.Asn562Lys) c.1947C>A (p.Asn649Lys) c.1917C>A (p.Asn639Lys) c.1434C>A (p.Asn478Lys) c.1329C>A (p.Asn443Lys)	COSMIC
3	g.122283871C>G	CA354157975	CASR	c.1686C>G (p.Asn562Lys) c.1947C>G (p.Asn649Lys) c.1917C>G (p.Asn639Lys) c.1434C>G (p.Asn478Lys) c.1329C>G (p.Asn443Lys)	gnomAD v4
3	g.122283871C>T	CA435251977	CASR	c.1686C>T (p.Asn562=) c.1947C>T (p.Asn649=) c.1917C>T (p.Asn639=) c.1434C>T (p.Asn478=) c.1329C>T (p.Asn443=)
3	g.122283872A>C	CA354157978	CASR	c.1687A>C (p.Thr563Pro) c.1948A>C (p.Thr650Pro) c.1918A>C (p.Thr640Pro) c.1435A>C (p.Thr479Pro) c.1330A>C (p.Thr444Pro)
3	g.122283872A>G	CA354157979	CASR	c.1687A>G (p.Thr563Ala) c.1948A>G (p.Thr650Ala) c.1918A>G (p.Thr640Ala) c.1435A>G (p.Thr479Ala) c.1330A>G (p.Thr444Ala)	ClinVar
3	g.122283872A>T	CA354157980	CASR	c.1687A>T (p.Thr563Ser) c.1948A>T (p.Thr650Ser) c.1918A>T (p.Thr640Ser) c.1435A>T (p.Thr479Ser) c.1330A>T (p.Thr444Ser)
3	g.122283873C>A	CA354157985	CASR	c.1688C>A (p.Thr563Lys) c.1949C>A (p.Thr650Lys) c.1919C>A (p.Thr640Lys) c.1436C>A (p.Thr479Lys) c.1331C>A (p.Thr444Lys)	ClinVar dbSNP gnomAD v4
3	g.122283873C=	CA1397871163	CASR	c.1688C= (p.Thr563=) c.1949C= (p.Thr650=) c.1919C= (p.Thr640=) c.1436C= (p.Thr479=) c.1331C= (p.Thr444=)
3	g.122283873C>G	CA354157987	CASR	c.1688C>G (p.Thr563Arg) c.1949C>G (p.Thr650Arg) c.1919C>G (p.Thr640Arg) c.1436C>G (p.Thr479Arg) c.1331C>G (p.Thr444Arg)
3	g.122283873C>T	CA354157983	CASR	c.1688C>T (p.Thr563Ile) c.1949C>T (p.Thr650Ile) c.1919C>T (p.Thr640Ile) c.1436C>T (p.Thr479Ile) c.1331C>T (p.Thr444Ile)	ClinVar dbSNP
3	g.122283874A>C	CA435251981	CASR	c.1689A>C (p.Thr563=) c.1950A>C (p.Thr650=) c.1920A>C (p.Thr640=) c.1437A>C (p.Thr479=) c.1332A>C (p.Thr444=)
3	g.122283874A>G	CA435251983	CASR	c.1689A>G (p.Thr563=) c.1950A>G (p.Thr650=) c.1920A>G (p.Thr640=) c.1437A>G (p.Thr479=) c.1332A>G (p.Thr444=)	gnomAD v4
3	g.122283874A>T	CA435251982	CASR	c.1689A>T (p.Thr563=) c.1950A>T (p.Thr650=) c.1920A>T (p.Thr640=) c.1437A>T (p.Thr479=) c.1332A>T (p.Thr444=)
3	g.122283875C>A	CA354157989	CASR	c.1690C>A (p.Pro564Thr) c.1951C>A (p.Pro651Thr) c.1921C>A (p.Pro641Thr) c.1438C>A (p.Pro480Thr) c.1333C>A (p.Pro445Thr)
3	g.122283875C>G	CA354157991	CASR	c.1690C>G (p.Pro564Ala) c.1951C>G (p.Pro651Ala) c.1921C>G (p.Pro641Ala) c.1438C>G (p.Pro480Ala) c.1333C>G (p.Pro445Ala)	gnomAD v4
3	g.122283875C>T	CA354157993	CASR	c.1690C>T (p.Pro564Ser) c.1951C>T (p.Pro651Ser) c.1921C>T (p.Pro641Ser) c.1438C>T (p.Pro480Ser) c.1333C>T (p.Pro445Ser)
3	g.122283876C>A	CA354157995	CASR	c.1691C>A (p.Pro564His) c.1952C>A (p.Pro651His) c.1922C>A (p.Pro641His) c.1439C>A (p.Pro480His) c.1334C>A (p.Pro445His)
3	g.122283876C>G	CA354157997	CASR	c.1691C>G (p.Pro564Arg) c.1952C>G (p.Pro651Arg) c.1922C>G (p.Pro641Arg) c.1439C>G (p.Pro480Arg) c.1334C>G (p.Pro445Arg)
3	g.122283876C>T	CA354157999	CASR	c.1691C>T (p.Pro564Leu) c.1952C>T (p.Pro651Leu) c.1922C>T (p.Pro641Leu) c.1439C>T (p.Pro480Leu) c.1334C>T (p.Pro445Leu)
3	g.122283877C>A	CA435251987	CASR	c.1692C>A (p.Pro564=) c.1953C>A (p.Pro651=) c.1923C>A (p.Pro641=) c.1440C>A (p.Pro480=) c.1335C>A (p.Pro445=)	gnomAD v4
3	g.122283877C=	CA1397871171	CASR	c.1692C= (p.Pro564=) c.1953C= (p.Pro651=) c.1923C= (p.Pro641=) c.1440C= (p.Pro480=) c.1335C= (p.Pro445=)
3	g.122283877C>G	CA435251988	CASR	c.1692C>G (p.Pro564=) c.1953C>G (p.Pro651=) c.1923C>G (p.Pro641=) c.1440C>G (p.Pro480=) c.1335C>G (p.Pro445=)
3	g.122283877C>T	CA10614603	CASR	c.1692C>T (p.Pro564=) c.1953C>T (p.Pro651=) c.1923C>T (p.Pro641=) c.1440C>T (p.Pro480=) c.1335C>T (p.Pro445=)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122283878A=	CA1397871178	CASR	c.1693A= (p.Ile565=) c.1954A= (p.Ile652=) c.1924A= (p.Ile642=) c.1441A= (p.Ile481=) c.1336A= (p.Ile446=)
3	g.122283878A>C	CA354158003	CASR	c.1693A>C (p.Ile565Leu) c.1954A>C (p.Ile652Leu) c.1924A>C (p.Ile642Leu) c.1441A>C (p.Ile481Leu) c.1336A>C (p.Ile446Leu)	ClinVar
3	g.122283878A>G	CA82748626	CASR	c.1693A>G (p.Ile565Val) c.1954A>G (p.Ile652Val) c.1924A>G (p.Ile642Val) c.1441A>G (p.Ile481Val) c.1336A>G (p.Ile446Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122283878A>T	CA354158005	CASR	c.1693A>T (p.Ile565Phe) c.1954A>T (p.Ile652Phe) c.1924A>T (p.Ile642Phe) c.1441A>T (p.Ile481Phe) c.1336A>T (p.Ile446Phe)
3	g.122283879T>A	CA354158009	CASR	c.1694T>A (p.Ile565Asn) c.1955T>A (p.Ile652Asn) c.1925T>A (p.Ile642Asn) c.1442T>A (p.Ile481Asn) c.1337T>A (p.Ile446Asn)
3	g.122283879T>C	CA354158010	CASR	c.1694T>C (p.Ile565Thr) c.1955T>C (p.Ile652Thr) c.1925T>C (p.Ile642Thr) c.1442T>C (p.Ile481Thr) c.1337T>C (p.Ile446Thr)	ClinVar dbSNP
3	g.122283879T>G	CA354158012	CASR	c.1694T>G (p.Ile565Ser) c.1955T>G (p.Ile652Ser) c.1925T>G (p.Ile642Ser) c.1442T>G (p.Ile481Ser) c.1337T>G (p.Ile446Ser)
3	g.122283880T>A	CA435251992	CASR	c.1695T>A (p.Ile565=) c.1956T>A (p.Ile652=) c.1926T>A (p.Ile642=) c.1443T>A (p.Ile481=) c.1338T>A (p.Ile446=)
3	g.122283880T>C	CA435251993	CASR	c.1695T>C (p.Ile565=) c.1956T>C (p.Ile652=) c.1926T>C (p.Ile642=) c.1443T>C (p.Ile481=) c.1338T>C (p.Ile446=)
3	g.122283880T>G	CA354158014	CASR	c.1695T>G (p.Ile565Met) c.1956T>G (p.Ile652Met) c.1926T>G (p.Ile642Met) c.1443T>G (p.Ile481Met) c.1338T>G (p.Ile446Met)
3	g.122283881G>A	CA354158020	CASR	c.1696G>A (p.Val566Ile) c.1957G>A (p.Val653Ile) c.1927G>A (p.Val643Ile) c.1444G>A (p.Val482Ile) c.1339G>A (p.Val447Ile)	ClinVar gnomAD v4 COSMIC
3	g.122283881G>C	CA354158018	CASR	c.1696G>C (p.Val566Leu) c.1957G>C (p.Val653Leu) c.1927G>C (p.Val643Leu) c.1444G>C (p.Val482Leu) c.1339G>C (p.Val447Leu)
3	g.122283881G>T	CA354158016	CASR	c.1696G>T (p.Val566Phe) c.1957G>T (p.Val653Phe) c.1927G>T (p.Val643Phe) c.1444G>T (p.Val482Phe) c.1339G>T (p.Val447Phe)
3	g.122283882T>A	CA354158022	CASR	c.1697T>A (p.Val566Asp) c.1958T>A (p.Val653Asp) c.1928T>A (p.Val643Asp) c.1445T>A (p.Val482Asp) c.1340T>A (p.Val447Asp)
3	g.122283882T>C	CA354158026	CASR	c.1697T>C (p.Val566Ala) c.1958T>C (p.Val653Ala) c.1928T>C (p.Val643Ala) c.1445T>C (p.Val482Ala) c.1340T>C (p.Val447Ala)	COSMIC
3	g.122283882T>G	CA354158024	CASR	c.1697T>G (p.Val566Gly) c.1958T>G (p.Val653Gly) c.1928T>G (p.Val643Gly) c.1445T>G (p.Val482Gly) c.1340T>G (p.Val447Gly)
3	g.122283883C>A	CA435251996	CASR	c.1698C>A (p.Val566=) c.1959C>A (p.Val653=) c.1929C>A (p.Val643=) c.1446C>A (p.Val482=) c.1341C>A (p.Val447=)
3	g.122283883C>G	CA435251997	CASR	c.1698C>G (p.Val566=) c.1959C>G (p.Val653=) c.1929C>G (p.Val643=) c.1446C>G (p.Val482=) c.1341C>G (p.Val447=)
3	g.122283883C>T	CA435251998	CASR	c.1698C>T (p.Val566=) c.1959C>T (p.Val653=) c.1929C>T (p.Val643=) c.1446C>T (p.Val482=) c.1341C>T (p.Val447=)
3	g.122283884A>C	CA354158028	CASR	c.1699A>C (p.Lys567Gln) c.1960A>C (p.Lys654Gln) c.1930A>C (p.Lys644Gln) c.1447A>C (p.Lys483Gln) c.1342A>C (p.Lys448Gln)
3	g.122283884A>G	CA354158032	CASR	c.1699A>G (p.Lys567Glu) c.1960A>G (p.Lys654Glu) c.1930A>G (p.Lys644Glu) c.1447A>G (p.Lys483Glu) c.1342A>G (p.Lys448Glu)
3	g.122283884A>T	CA354158030	CASR	c.1699A>T (p.Lys567Ter) c.1960A>T (p.Lys654Ter) c.1930A>T (p.Lys644Ter) c.1447A>T (p.Lys483Ter) c.1342A>T (p.Lys448Ter)
3	g.122283885A>C	CA354158035	CASR	c.1700A>C (p.Lys567Thr) c.1961A>C (p.Lys654Thr) c.1931A>C (p.Lys644Thr) c.1448A>C (p.Lys483Thr) c.1343A>C (p.Lys448Thr)
3	g.122283885A>G	CA354158036	CASR	c.1700A>G (p.Lys567Arg) c.1961A>G (p.Lys654Arg) c.1931A>G (p.Lys644Arg) c.1448A>G (p.Lys483Arg) c.1343A>G (p.Lys448Arg)
3	g.122283885A>T	CA354158038	CASR	c.1700A>T (p.Lys567Met) c.1961A>T (p.Lys654Met) c.1931A>T (p.Lys644Met) c.1448A>T (p.Lys483Met) c.1343A>T (p.Lys448Met)
3	g.122283886G>A	CA435252002	CASR	c.1701G>A (p.Lys567=) c.1962G>A (p.Lys654=) c.1932G>A (p.Lys644=) c.1449G>A (p.Lys483=) c.1344G>A (p.Lys448=)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122283886G>C	CA354158041	CASR	c.1701G>C (p.Lys567Asn) c.1962G>C (p.Lys654Asn) c.1932G>C (p.Lys644Asn) c.1449G>C (p.Lys483Asn) c.1344G>C (p.Lys448Asn)
3	g.122283886G=	CA1397871185	CASR	c.1701G= (p.Lys567=) c.1962G= (p.Lys654=) c.1932G= (p.Lys644=) c.1449G= (p.Lys483=) c.1344G= (p.Lys448=)
3	g.122283886G>T	CA354158043	CASR	c.1701G>T (p.Lys567Asn) c.1962G>T (p.Lys654Asn) c.1932G>T (p.Lys644Asn) c.1449G>T (p.Lys483Asn) c.1344G>T (p.Lys448Asn)
3	g.122283887G>A	CA354158045	CASR	c.1702G>A (p.Ala568Thr) c.1963G>A (p.Ala655Thr) c.1933G>A (p.Ala645Thr) c.1450G>A (p.Ala484Thr) c.1345G>A (p.Ala449Thr)	ClinVar dbSNP
3	g.122283887G>C	CA354158047	CASR	c.1702G>C (p.Ala568Pro) c.1963G>C (p.Ala655Pro) c.1933G>C (p.Ala645Pro) c.1450G>C (p.Ala484Pro) c.1345G>C (p.Ala449Pro)
3	g.122283887G>T	CA354158050	CASR	c.1702G>T (p.Ala568Ser) c.1963G>T (p.Ala655Ser) c.1933G>T (p.Ala645Ser) c.1450G>T (p.Ala484Ser) c.1345G>T (p.Ala449Ser)
3	g.122283888C>A	CA213575	CASR	c.1703C>A (p.Ala568Asp) c.1964C>A (p.Ala655Asp) c.1934C>A (p.Ala645Asp) c.1451C>A (p.Ala484Asp) c.1346C>A (p.Ala449Asp)	ClinVar dbSNP
3	g.122283888C=	CA1397871189	CASR	c.1703C= (p.Ala568=) c.1964C= (p.Ala655=) c.1934C= (p.Ala645=) c.1451C= (p.Ala484=) c.1346C= (p.Ala449=)
3	g.122283888C>G	CA354158053	CASR	c.1703C>G (p.Ala568Gly) c.1964C>G (p.Ala655Gly) c.1934C>G (p.Ala645Gly) c.1451C>G (p.Ala484Gly) c.1346C>G (p.Ala449Gly)
3	g.122283888C>T	CA354158055	CASR	c.1703C>T (p.Ala568Val) c.1964C>T (p.Ala655Val) c.1934C>T (p.Ala645Val) c.1451C>T (p.Ala484Val) c.1346C>T (p.Ala449Val)
3	g.122283889C>A	CA435252006	CASR	c.1704C>A (p.Ala568=) c.1965C>A (p.Ala655=) c.1935C>A (p.Ala645=) c.1452C>A (p.Ala484=) c.1347C>A (p.Ala449=)
3	g.122283889C>G	CA435252007	CASR	c.1704C>G (p.Ala568=) c.1965C>G (p.Ala655=) c.1935C>G (p.Ala645=) c.1452C>G (p.Ala484=) c.1347C>G (p.Ala449=)
3	g.122283889C>T	CA435252008	CASR	c.1704C>T (p.Ala568=) c.1965C>T (p.Ala655=) c.1935C>T (p.Ala645=) c.1452C>T (p.Ala484=) c.1347C>T (p.Ala449=)	ClinVar
3	g.122283890A=	CA1397871193	CASR	c.1705A= (p.Thr569=) c.1966A= (p.Thr656=) c.1936A= (p.Thr646=) c.1453A= (p.Thr485=) c.1348A= (p.Thr450=)
3	g.122283890A>C	CA354158059	CASR	c.1705A>C (p.Thr569Pro) c.1966A>C (p.Thr656Pro) c.1936A>C (p.Thr646Pro) c.1453A>C (p.Thr485Pro) c.1348A>C (p.Thr450Pro)
3	g.122283890A>G	CA82748631	CASR	c.1705A>G (p.Thr569Ala) c.1966A>G (p.Thr656Ala) c.1936A>G (p.Thr646Ala) c.1453A>G (p.Thr485Ala) c.1348A>G (p.Thr450Ala)	ClinVar dbSNP
3	g.122283890A>T	CA354158058	CASR	c.1705A>T (p.Thr569Ser) c.1966A>T (p.Thr656Ser) c.1936A>T (p.Thr646Ser) c.1453A>T (p.Thr485Ser) c.1348A>T (p.Thr450Ser)
3	g.122283891C>A	CA354158061	CASR	c.1706C>A (p.Thr569Asn) c.1967C>A (p.Thr656Asn) c.1937C>A (p.Thr646Asn) c.1454C>A (p.Thr485Asn) c.1349C>A (p.Thr450Asn)
3	g.122283891C>G	CA354158063	CASR	c.1706C>G (p.Thr569Ser) c.1967C>G (p.Thr656Ser) c.1937C>G (p.Thr646Ser) c.1454C>G (p.Thr485Ser) c.1349C>G (p.Thr450Ser)
3	g.122283891C>T	CA354158065	CASR	c.1706C>T (p.Thr569Ile) c.1967C>T (p.Thr656Ile) c.1937C>T (p.Thr646Ile) c.1454C>T (p.Thr485Ile) c.1349C>T (p.Thr450Ile)
3	g.122283891_122283892insAACCCAAACACACC	CA2758179533	CASR	c.1706_1707insAACCCAAACACACC (p.Asn570ThrfsTer?) c.1967_1968insAACCCAAACACACC (p.Asn657ThrfsTer?) c.1937_1938insAACCCAAACACACC (p.Asn647ThrfsTer?) c.1454_1455insAACCCAAACACACC (p.Asn486ThrfsTer?) c.1349_1350insAACCCAAACACACC (p.Asn451ThrfsTer?)
3	g.122283892C>A	CA435252012	CASR	c.1707C>A (p.Thr569=) c.1968C>A (p.Thr656=) c.1938C>A (p.Thr646=) c.1455C>A (p.Thr485=) c.1350C>A (p.Thr450=)
3	g.122283892C>G	CA435252013	CASR	c.1707C>G (p.Thr569=) c.1968C>G (p.Thr656=) c.1938C>G (p.Thr646=) c.1455C>G (p.Thr485=) c.1350C>G (p.Thr450=)	gnomAD v4
3	g.122283892C>T	CA435252014	CASR	c.1707C>T (p.Thr569=) c.1968C>T (p.Thr656=) c.1938C>T (p.Thr646=) c.1455C>T (p.Thr485=) c.1350C>T (p.Thr450=)
3	g.122283893A>C	CA354158067	CASR	c.1708A>C (p.Asn570His) c.1969A>C (p.Asn657His) c.1939A>C (p.Asn647His) c.1456A>C (p.Asn486His) c.1351A>C (p.Asn451His)	gnomAD v3 gnomAD v4
3	g.122283893A>G	CA354158069	CASR	c.1708A>G (p.Asn570Asp) c.1969A>G (p.Asn657Asp) c.1939A>G (p.Asn647Asp) c.1456A>G (p.Asn486Asp) c.1351A>G (p.Asn451Asp)
3	g.122283893A>T	CA354158071	CASR	c.1708A>T (p.Asn570Tyr) c.1969A>T (p.Asn657Tyr) c.1939A>T (p.Asn647Tyr) c.1456A>T (p.Asn486Tyr) c.1351A>T (p.Asn451Tyr)

Number of alleles fetched