Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.52675336_52675405delinsTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATG	CA2036619057	KRT1	c.1723_1792delinsCATGGCAGCTACGGCTCCGGAAGCAGCAGTGGGGGCTACAGAGGTGGCTCTGGAGGCGGCGGCGGCGGCA (p.His575=)
12	g.52675336_52675486delinsTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCC	CA2036619056	KRT1	c.1642_1792delinsGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAGCTACGGCTCCGGAAGCAGCAGTGGGGGCTACAGAGGTGGCTCTGGAGGCGGCGGCGGCGGCA (p.Gly548=)
12	g.52675349_52675417del	CA947736884	KRT1	c.1723_1791del (p.His575_Gly597del)	dbSNP gnomAD v3 gnomAD v4
12	g.52675349_52675498del	CA947736885	KRT1	c.1642_1791del (p.Gly548_Gly597del)	dbSNP gnomAD v3 gnomAD v4
12	g.52675346_52675363del	CA6586033	KRT1	c.1767_1784del (p.Gly590_Gly595del)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675362_52675430del	CA2618946314	KRT1	c.1710_1778del (p.Gly571_Gly593del)	gnomAD v4
12	g.52675362C>A	CA384958506	KRT1	c.1766G>T (p.Gly589Val)	gnomAD v4
12	g.52675362C=	CA2036619076	KRT1	c.1766G= (p.Gly589=)
12	g.52675362C>G	CA384958516	KRT1	c.1766G>C (p.Gly589Ala)
12	g.52675362C>T	CA6586037	KRT1	c.1766G>A (p.Gly589Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675363C>A	CA384958519	KRT1	c.1765G>T (p.Gly589Cys)	COSMIC
12	g.52675363C=	CA2036619077	KRT1	c.1765G= (p.Gly589=)
12	g.52675363C>G	CA384958531	KRT1	c.1765G>C (p.Gly589Arg)
12	g.52675363C>T	CA384958540	KRT1	c.1765G>A (p.Gly589Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.52675364T>A	CA384958545	KRT1	c.1764A>T (p.Arg588Ser)
12	g.52675364T>C	CA480072978	KRT1	c.1764A>G (p.Arg588=)	dbSNP gnomAD v3 gnomAD v4
12	g.52675364T>G	CA6586038	KRT1	c.1764A>C (p.Arg588Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675364T=	CA2036619078	KRT1	c.1764A= (p.Arg588=)
12	g.52675365C>A	CA384958557	KRT1	c.1763G>T (p.Arg588Ile)
12	g.52675365C>G	CA384958565	KRT1	c.1763G>C (p.Arg588Thr)
12	g.52675365C>T	CA384958572	KRT1	c.1763G>A (p.Arg588Lys)
12	g.52675366T>A	CA384958573	KRT1	c.1762A>T (p.Arg588Ter)
12	g.52675366T>C	CA217443	KRT1	c.1762A>G (p.Arg588Gly)	ClinVar dbSNP
12	g.52675366T>G	CA480072981	KRT1	c.1762A>C (p.Arg588=)
12	g.52675366T=	CA2036619079	KRT1	c.1762A= (p.Arg588=)
12	g.52675367G>A	CA480072982	KRT1	c.1761C>T (p.Tyr587=)
12	g.52675367G>C	CA384958590	KRT1	c.1761C>G (p.Tyr587Ter)
12	g.52675367G>T	CA384958579	KRT1	c.1761C>A (p.Tyr587Ter)
12	g.52675368T>A	CA384958595	KRT1	c.1760A>T (p.Tyr587Phe)
12	g.52675368T>C	CA384958599	KRT1	c.1760A>G (p.Tyr587Cys)	dbSNP gnomAD v4
12	g.52675368T>G	CA384958608	KRT1	c.1760A>C (p.Tyr587Ser)
12	g.52675368T=	CA2036619080	KRT1	c.1760A= (p.Tyr587=)
12	g.52675369A>C	CA384958616	KRT1	c.1759T>G (p.Tyr587Asp)
12	g.52675369A>G	CA384958622	KRT1	c.1759T>C (p.Tyr587His)
12	g.52675369A>T	CA384958632	KRT1	c.1759T>A (p.Tyr587Asn)
12	g.52675369dup	CA2695216812	KRT1	c.1759dup (p.Tyr587LeufsTer?)
12	g.52675369_52675370dup	CA605241233	KRT1	c.1758_1759dup (p.Tyr587SerfsTer28)	dbSNP gnomAD v2 gnomAD v4
12	g.52675370G>A	CA480072990	KRT1	c.1758C>T (p.Gly586=)
12	g.52675370G>C	CA480072989	KRT1	c.1758C>G (p.Gly586=)
12	g.52675370G>T	CA480072988	KRT1	c.1758C>A (p.Gly586=)
12	g.52675371C>A	CA384958635	KRT1	c.1757G>T (p.Gly586Val)
12	g.52675371C>G	CA384958636	KRT1	c.1757G>C (p.Gly586Ala)
12	g.52675371C>T	CA384958649	KRT1	c.1757G>A (p.Gly586Asp)
12	g.52675375dup	CA2580086463	KRT1	c.1757dup (p.Tyr587LeufsTer?)	ClinVar
12	g.52675372C>A	CA384958655	KRT1	c.1756G>T (p.Gly586Cys)
12	g.52675372C=	CA2036619081	KRT1	c.1756G= (p.Gly586=)
12	g.52675372C>G	CA384958656	KRT1	c.1756G>C (p.Gly586Arg)
12	g.52675372C>T	CA384958659	KRT1	c.1756G>A (p.Gly586Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.52675373C>A	CA480072994	KRT1	c.1755G>T (p.Gly585=)
12	g.52675373C>G	CA480072995	KRT1	c.1755G>C (p.Gly585=)
12	g.52675373C>T	CA480072997	KRT1	c.1755G>A (p.Gly585=)	dbSNP
12	g.52675374C>A	CA384958678	KRT1	c.1754G>T (p.Gly585Val)
12	g.52675374C=	CA2036619082	KRT1	c.1754G= (p.Gly585=)
12	g.52675374C>G	CA384958677	KRT1	c.1754G>C (p.Gly585Ala)
12	g.52675374C>T	CA384958672	KRT1	c.1754G>A (p.Gly585Glu)	dbSNP gnomAD v2 gnomAD v4
12	g.52675375C>A	CA6586039	KRT1	c.1753G>T (p.Gly585Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675375C=	CA2036619083	KRT1	c.1753G= (p.Gly585=)
12	g.52675375C>G	CA384958679	KRT1	c.1753G>C (p.Gly585Arg)
12	g.52675375C>T	CA384958685	KRT1	c.1753G>A (p.Gly585Arg)	dbSNP gnomAD v4
12	g.52675376A=	CA2036619084	KRT1	c.1752T= (p.Ser584=)
12	g.52675376A>C	CA384958697	KRT1	c.1752T>G (p.Ser584Arg)
12	g.52675376A>G	CA480073000	KRT1	c.1752T>C (p.Ser584=)
12	g.52675376A>T	CA384958702	KRT1	c.1752T>A (p.Ser584Arg)
12	g.52675376dup	CA2695216813	KRT1	c.1752dup (p.Gly585TrpfsTer?)
12	g.52675377C>A	CA384958711	KRT1	c.1751G>T (p.Ser584Ile)
12	g.52675377C>G	CA384958703	KRT1	c.1751G>C (p.Ser584Thr)	gnomAD v4
12	g.52675377C>T	CA384958706	KRT1	c.1751G>A (p.Ser584Asn)
12	g.52675377dup	CA217442	KRT1	c.1751dup (p.Ser584ArgfsTer?)	ClinVar dbSNP
12	g.52675378T>A	CA384958728	KRT1	c.1750A>T (p.Ser584Cys)
12	g.52675378T>C	CA384958736	KRT1	c.1750A>G (p.Ser584Gly)	COSMIC
12	g.52675378T>G	CA237261412	KRT1	c.1750A>C (p.Ser584Arg)	dbSNP gnomAD v4
12	g.52675378T=	CA2036619085	KRT1	c.1750A= (p.Ser584=)
12	g.52675379G>A	CA480073007	KRT1	c.1749C>T (p.Ser583=)
12	g.52675379G>C	CA384958742	KRT1	c.1749C>G (p.Ser583Arg)
12	g.52675379G>T	CA384958743	KRT1	c.1749C>A (p.Ser583Arg)
12	g.52675380C>A	CA384958747	KRT1	c.1748G>T (p.Ser583Ile)
12	g.52675380C=	CA2036619086	KRT1	c.1748G= (p.Ser583=)
12	g.52675380C>G	CA384958760	KRT1	c.1748G>C (p.Ser583Thr)
12	g.52675380C>T	CA384958755	KRT1	c.1748G>A (p.Ser583Asn)	dbSNP gnomAD v2 gnomAD v4
12	g.52675381T>A	CA384958771	KRT1	c.1747A>T (p.Ser583Cys)
12	g.52675381T>C	CA384958772	KRT1	c.1747A>G (p.Ser583Gly)
12	g.52675381T>G	CA384958773	KRT1	c.1747A>C (p.Ser583Arg)
12	g.52675382G>A	CA480073010	KRT1	c.1746C>T (p.Ser582=)
12	g.52675382G>C	CA384958774	KRT1	c.1746C>G (p.Ser582Arg)
12	g.52675382G>T	CA384958778	KRT1	c.1746C>A (p.Ser582Arg)	gnomAD v4
12	g.52675383C>A	CA384958779	KRT1	c.1745G>T (p.Ser582Ile)
12	g.52675383C>G	CA384958780	KRT1	c.1745G>C (p.Ser582Thr)
12	g.52675383C>T	CA384958782	KRT1	c.1745G>A (p.Ser582Asn)
12	g.52675384T>A	CA384958797	KRT1	c.1744A>T (p.Ser582Cys)
12	g.52675384T>C	CA6586040	KRT1	c.1744A>G (p.Ser582Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675384T>G	CA384958820	KRT1	c.1744A>C (p.Ser582Arg)
12	g.52675384T=	CA2036619087	KRT1	c.1744A= (p.Ser582=)
12	g.52675384_52675462delinsTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACC	CA2036619088	KRT1	c.1666_1744delinsGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAGCTACGGCTCCGGAA (p.Gly556=)
12	g.52675385T>A	CA480073015	KRT1	c.1743A>T (p.Gly581=)
12	g.52675385T>C	CA480073016	KRT1	c.1743A>G (p.Gly581=)	gnomAD v4
12	g.52675385T>G	CA480073017	KRT1	c.1743A>C (p.Gly581=)	dbSNP gnomAD v3 gnomAD v4
12	g.52675385T=	CA2036619089	KRT1	c.1743A= (p.Gly581=)
12	g.52675394_52675471dup	CA2796003412	KRT1	c.1666_1743dup (p.Gly581_Ser582insGlySerSerTyrGlySerGlyGlyGlySerTyrGlySerGlyGlyGlyGlyGlyGlyHisGlySerTyrGlySerGly)
12	g.52675394_52675471del	CA919089365	KRT1	c.1666_1743del (p.Gly556_Gly581del)	dbSNP gnomAD v4
12	g.52675386C>A	CA384958859	KRT1	c.1742G>T (p.Gly581Val)
12	g.52675386C>G	CA384958858	KRT1	c.1742G>C (p.Gly581Ala)
12	g.52675386C>T	CA384958855	KRT1	c.1742G>A (p.Gly581Glu)
12	g.52675387C>A	CA384958860	KRT1	c.1741G>T (p.Gly581Ter)
12	g.52675387C=	CA2036619090	KRT1	c.1741G= (p.Gly581=)
12	g.52675387C>G	CA384958864	KRT1	c.1741G>C (p.Gly581Arg)
12	g.52675387C>T	CA6586041	KRT1	c.1741G>A (p.Gly581Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675388G>A	CA6586042	KRT1	c.1740C>T (p.Ser580=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675388G>C	CA480073020	KRT1	c.1740C>G (p.Ser580=)	gnomAD v4
12	g.52675388G=	CA2036619091	KRT1	c.1740C= (p.Ser580=)
12	g.52675388G>T	CA480073019	KRT1	c.1740C>A (p.Ser580=)
12	g.52675389G>A	CA384958865	KRT1	c.1739C>T (p.Ser580Phe)	dbSNP
12	g.52675389G>C	CA384958868	KRT1	c.1739C>G (p.Ser580Cys)
12	g.52675389G>T	CA384958869	KRT1	c.1739C>A (p.Ser580Tyr)
12	g.52675390A>C	CA384958877	KRT1	c.1738T>G (p.Ser580Ala)
12	g.52675390A>G	CA384958893	KRT1	c.1738T>C (p.Ser580Pro)
12	g.52675390A>T	CA384958897	KRT1	c.1738T>A (p.Ser580Thr)
12	g.52675391G>A	CA480073022	KRT1	c.1737C>T (p.Gly579=)
12	g.52675391G>C	CA480073023	KRT1	c.1737C>G (p.Gly579=)
12	g.52675391G>T	CA480073025	KRT1	c.1737C>A (p.Gly579=)
12	g.52675392C>A	CA384958898	KRT1	c.1736G>T (p.Gly579Val)	dbSNP gnomAD v4
12	g.52675392C=	CA2036619092	KRT1	c.1736G= (p.Gly579=)
12	g.52675392C>G	CA384958900	KRT1	c.1736G>C (p.Gly579Ala)	gnomAD v4
12	g.52675392C>T	CA384958907	KRT1	c.1736G>A (p.Gly579Asp)
12	g.52675393C>A	CA384958923	KRT1	c.1735G>T (p.Gly579Cys)
12	g.52675393C=	CA2036619093	KRT1	c.1735G= (p.Gly579=)
12	g.52675393C>G	CA384958924	KRT1	c.1735G>C (p.Gly579Arg)
12	g.52675393C>T	CA6586043	KRT1	c.1735G>A (p.Gly579Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675394G>A	CA6586045	KRT1	c.1734C>T (p.Tyr578=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675394G>C	CA384958927	KRT1	c.1734C>G (p.Tyr578Ter)
12	g.52675394G=	CA2036619094	KRT1	c.1734C= (p.Tyr578=)
12	g.52675394G>T	CA384958928	KRT1	c.1734C>A (p.Tyr578Ter)	dbSNP gnomAD v3 gnomAD v4
12	g.52675394_52675472delinsGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCA	CA2036619095	KRT1	c.1656_1734delinsTGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAGCTAC (p.Tyr552=)
12	g.52675395T>A	CA384958929	KRT1	c.1733A>T (p.Tyr578Phe)
12	g.52675395T>C	CA384958930	KRT1	c.1733A>G (p.Tyr578Cys)
12	g.52675395T>G	CA384958932	KRT1	c.1733A>C (p.Tyr578Ser)
12	g.52675404_52675481del	CA6586044	KRT1	c.1656_1733del (p.Gly553_Tyr578del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675396A>C	CA384958933	KRT1	c.1732T>G (p.Tyr578Asp)
12	g.52675396A>G	CA384958939	KRT1	c.1732T>C (p.Tyr578His)
12	g.52675396A>T	CA384958941	KRT1	c.1732T>A (p.Tyr578Asn)
12	g.52675397G>A	CA480073030	KRT1	c.1731C>T (p.Ser577=)	dbSNP gnomAD v2
12	g.52675397G>C	CA384958951	KRT1	c.1731C>G (p.Ser577Arg)
12	g.52675397G=	CA2036619096	KRT1	c.1731C= (p.Ser577=)
12	g.52675397G>T	CA384958958	KRT1	c.1731C>A (p.Ser577Arg)	gnomAD v4
12	g.52675398C>A	CA384958972	KRT1	c.1730G>T (p.Ser577Ile)
12	g.52675398C>G	CA384958975	KRT1	c.1730G>C (p.Ser577Thr)
12	g.52675398C>T	CA384958979	KRT1	c.1730G>A (p.Ser577Asn)
12	g.52675399T>A	CA384958997	KRT1	c.1729A>T (p.Ser577Cys)
12	g.52675399T>C	CA384958995	KRT1	c.1729A>G (p.Ser577Gly)
12	g.52675399T>G	CA384958984	KRT1	c.1729A>C (p.Ser577Arg)
12	g.52675399T=	CA2036619097	KRT1	c.1729A= (p.Ser577=)
12	g.52675400G>A	CA480073032	KRT1	c.1728C>T (p.Gly576=)	gnomAD v4
12	g.52675400G>C	CA480073033	KRT1	c.1728C>G (p.Gly576=)
12	g.52675400G>T	CA480073034	KRT1	c.1728C>A (p.Gly576=)
12	g.52675404_52675418dup	CA2036619098	KRT1	c.1714_1728dup (p.Gly576_Ser577insGlyGlyGlyHisGly)	dbSNP
12	g.52675401C>A	CA384958998	KRT1	c.1727G>T (p.Gly576Val)
12	g.52675401C>G	CA384958999	KRT1	c.1727G>C (p.Gly576Ala)
12	g.52675401C>T	CA384959003	KRT1	c.1727G>A (p.Gly576Asp)	gnomAD v4
12	g.52675402C>A	CA384959026	KRT1	c.1726G>T (p.Gly576Cys)
12	g.52675402C=	CA2036619099	KRT1	c.1726G= (p.Gly576=)
12	g.52675402C>G	CA384959038	KRT1	c.1726G>C (p.Gly576Arg)
12	g.52675402C>T	CA384959042	KRT1	c.1726G>A (p.Gly576Ser)	dbSNP gnomAD v3 gnomAD v4
12	g.52675403A=	CA2036619100	KRT1	c.1725T= (p.His575=)
12	g.52675403A>C	CA384959046	KRT1	c.1725T>G (p.His575Gln)
12	g.52675403A>G	CA6586046	KRT1	c.1725T>C (p.His575=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675403A>T	CA384959081	KRT1	c.1725T>A (p.His575Gln)
12	g.52675404_52675460del	CA2796003413	KRT1	c.1669_1725del (p.Ser557_His575del)
12	g.52675404T>A	CA384959087	KRT1	c.1724A>T (p.His575Leu)
12	g.52675404T>C	CA6586047	KRT1	c.1724A>G (p.His575Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675404T>G	CA384959100	KRT1	c.1724A>C (p.His575Pro)
12	g.52675404T=	CA2036619101	KRT1	c.1724A= (p.His575=)
12	g.52675405G>A	CA384959127	KRT1	c.1723C>T (p.His575Tyr)	dbSNP gnomAD v3 gnomAD v4
12	g.52675405G>C	CA384959132	KRT1	c.1723C>G (p.His575Asp)
12	g.52675405G=	CA2036619104	KRT1	c.1723C= (p.His575=)
12	g.52675405G>T	CA384959113	KRT1	c.1723C>A (p.His575Asn)
12	g.52675405_52675408delinsGGCC	CA2036619102	KRT1	c.1720_1723delinsGGCC (p.Gly574=)
12	g.52675405_52675486delinsGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCC	CA2036619103	KRT1	c.1642_1723delinsGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCC (p.Gly548=)
12	g.52675418_52675495del	CA947736927	KRT1	c.1646_1723del (p.Arg549_Gly574del)	gnomAD v3 gnomAD v4
12	g.52675406G>A	CA480073039	KRT1	c.1722C>T (p.Gly574=)
12	g.52675406G>C	CA480073038	KRT1	c.1722C>G (p.Gly574=)
12	g.52675406G>T	CA480073037	KRT1	c.1722C>A (p.Gly574=)
12	g.52675415_52675417dup	CA6586049	KRT1	c.1720_1722dup (p.Gly574_His575insGly)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.52675415_52675417del	CA605241234	KRT1	c.1720_1722del (p.Gly574del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675427_52675507dup	CA2618946318	KRT1	c.1642_1722dup (p.Gly574_His575insGlyArgGlySerTyrGlySerGlyGlySerSerTyrGlySerGlyGlyGlySerTyrGlySerGlyGlyGlyGlyGlyGly)	gnomAD v4
12	g.52675427_52675507del	CA6586048	KRT1	c.1642_1722del (p.Gly548_Gly574del)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675407C>A	CA384959133	KRT1	c.1721G>T (p.Gly574Val)
12	g.52675407C=	CA2036619105	KRT1	c.1721G= (p.Gly574=)
12	g.52675407C>G	CA384959136	KRT1	c.1721G>C (p.Gly574Ala)
12	g.52675407C>T	CA384959141	KRT1	c.1721G>A (p.Gly574Asp)	dbSNP gnomAD v4
12	g.52675408C>A	CA384959146	KRT1	c.1720G>T (p.Gly574Cys)
12	g.52675408C>G	CA384959145	KRT1	c.1720G>C (p.Gly574Arg)
12	g.52675408C>T	CA384959144	KRT1	c.1720G>A (p.Gly574Ser)	gnomAD v4
12	g.52675409G>A	CA480073040	KRT1	c.1719C>T (p.Gly573=)	gnomAD v4
12	g.52675409G>C	CA480073041	KRT1	c.1719C>G (p.Gly573=)
12	g.52675409G>T	CA480073042	KRT1	c.1719C>A (p.Gly573=)
12	g.52675410C>A	CA384959151	KRT1	c.1718G>T (p.Gly573Val)	gnomAD v4
12	g.52675410C=	CA2036619106	KRT1	c.1718G= (p.Gly573=)
12	g.52675410C>G	CA384959170	KRT1	c.1718G>C (p.Gly573Ala)
12	g.52675410C>T	CA384959176	KRT1	c.1718G>A (p.Gly573Asp)	dbSNP gnomAD v4
12	g.52675411C>A	CA384959181	KRT1	c.1717G>T (p.Gly573Cys)
12	g.52675411C=	CA2036619107	KRT1	c.1717G= (p.Gly573=)
12	g.52675411C>G	CA6586050	KRT1	c.1717G>C (p.Gly573Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675411C>T	CA6586051	KRT1	c.1717G>A (p.Gly573Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.52675412G>A	CA6586052	KRT1	c.1716C>T (p.Gly572=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675412G>C	CA480073043	KRT1	c.1716C>G (p.Gly572=)
12	g.52675412G=	CA2036619108	KRT1	c.1716C= (p.Gly572=)
12	g.52675412G>T	CA480073044	KRT1	c.1716C>A (p.Gly572=)	gnomAD v4
12	g.52675414_52675434dup	CA605241235	KRT1	c.1696_1716dup (p.Gly572_Gly573insTyrGlySerGlyGlyGlyGly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675413C>A	CA384959190	KRT1	c.1715G>T (p.Gly572Val)
12	g.52675413C>G	CA384959187	KRT1	c.1715G>C (p.Gly572Ala)
12	g.52675413C>T	CA384959184	KRT1	c.1715G>A (p.Gly572Asp)
12	g.52675414C>A	CA384959197	KRT1	c.1714G>T (p.Gly572Cys)
12	g.52675414C=	CA2036619110	KRT1	c.1714G= (p.Gly572=)
12	g.52675414C>G	CA384959194	KRT1	c.1714G>C (p.Gly572Arg)
12	g.52675414C>T	CA384959200	KRT1	c.1714G>A (p.Gly572Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.52675415_52675416del	CA2695216814	KRT1	c.1713_1714del (p.Gly572ArgfsTer?)
12	g.52675414_52675435delinsCGCCACCTCCAGAGCCATAGCT	CA2036619109	KRT1	c.1693_1714delinsAGCTATGGCTCTGGAGGTGGCG (p.Ser565=)
12	g.52675415G>A	CA480073047	KRT1	c.1713C>T (p.Gly571=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.52675415G>C	CA480073046	KRT1	c.1713C>G (p.Gly571=)
12	g.52675415G=	CA2036619111	KRT1	c.1713C= (p.Gly571=)
12	g.52675415G>T	CA480073045	KRT1	c.1713C>A (p.Gly571=)	gnomAD v4
12	g.52675424_52675444dup	CA605241237	KRT1	c.1693_1713dup (p.Gly571_Gly572insSerTyrGlySerGlyGlyGly)	dbSNP gnomAD v2 gnomAD v4
12	g.52675424_52675444del	CA605241236	KRT1	c.1693_1713del (p.Ser565_Gly571del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675416C>A	CA384959205	KRT1	c.1712G>T (p.Gly571Val)
12	g.52675416C>G	CA384959206	KRT1	c.1712G>C (p.Gly571Ala)
12	g.52675416C>T	CA384959207	KRT1	c.1712G>A (p.Gly571Asp)
12	g.52675417C>A	CA384959208	KRT1	c.1711G>T (p.Gly571Cys)	gnomAD v4
12	g.52675417C>G	CA384959211	KRT1	c.1711G>C (p.Gly571Arg)
12	g.52675417C>T	CA384959215	KRT1	c.1711G>A (p.Gly571Ser)
12	g.52675417_52675459delinsCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCT	CA2036619112	KRT1	c.1669_1711delinsAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTG (p.Ser557=)
12	g.52675418A>C	CA480073049	KRT1	c.1710T>G (p.Gly570=)	gnomAD v4
12	g.52675418A>G	CA480073050	KRT1	c.1710T>C (p.Gly570=)
12	g.52675418A>T	CA480073048	KRT1	c.1710T>A (p.Gly570=)
12	g.52675424_52675465del	CA6586053	KRT1	c.1669_1710del (p.Ser557_Gly570del)	dbSNP ExAC gnomAD v2
12	g.52675419C>A	CA384959224	KRT1	c.1709G>T (p.Gly570Val)	gnomAD v4
12	g.52675419C>G	CA384959239	KRT1	c.1709G>C (p.Gly570Ala)
12	g.52675419C>T	CA384959253	KRT1	c.1709G>A (p.Gly570Asp)
12	g.52675420del	CA2618946323	KRT1	c.1709del (p.Gly570ValfsTer?)	gnomAD v4
12	g.52675420C>A	CA384959264	KRT1	c.1708G>T (p.Gly570Cys)
12	g.52675420C>G	CA384959267	KRT1	c.1708G>C (p.Gly570Arg)
12	g.52675420C>T	CA384959269	KRT1	c.1708G>A (p.Gly570Ser)
12	g.52675421T>A	CA480073051	KRT1	c.1707A>T (p.Gly569=)
12	g.52675421T>C	CA480073052	KRT1	c.1707A>G (p.Gly569=)	gnomAD v4
12	g.52675421T>G	CA480073053	KRT1	c.1707A>C (p.Gly569=)
12	g.52675422C>A	CA384959284	KRT1	c.1706G>T (p.Gly569Val)
12	g.52675422C=	CA2036619113	KRT1	c.1706G= (p.Gly569=)
12	g.52675422C>G	CA384959281	KRT1	c.1706G>C (p.Gly569Ala)
12	g.52675422C>T	CA6586054	KRT1	c.1706G>A (p.Gly569Glu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675423C>A	CA384959289	KRT1	c.1705G>T (p.Gly569Ter)
12	g.52675423C>G	CA384959291	KRT1	c.1705G>C (p.Gly569Arg)
12	g.52675423C>T	CA384959292	KRT1	c.1705G>A (p.Gly569Arg)
12	g.52675424A>C	CA480073054	KRT1	c.1704T>G (p.Ser568=)
12	g.52675424A>G	CA480073055	KRT1	c.1704T>C (p.Ser568=)	gnomAD v4
12	g.52675424A>T	CA480073056	KRT1	c.1704T>A (p.Ser568=)
12	g.52675424_52675445delinsAGAGCCATAGCTGCCACCTCCG	CA2036619114	KRT1	c.1683_1704delinsCGGAGGTGGCAGCTATGGCTCT (p.Ser561=)
12	g.52675424_52675466delinsAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCG	CA2036619115	KRT1	c.1662_1704delinsCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCT (p.Ser554=)
12	g.52675425G>A	CA6586057	KRT1	c.1703C>T (p.Ser568Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675425G>C	CA384959301	KRT1	c.1703C>G (p.Ser568Cys)
12	g.52675425G=	CA2036619117	KRT1	c.1703C= (p.Ser568=)
12	g.52675425G>T	CA384959303	KRT1	c.1703C>A (p.Ser568Tyr)
12	g.52675435_52675436insACCACCTCCGGAGCCATAGCT	CA2618946325	KRT1	c.1703_1704insCGGAGGTGGTAGCTATGGCTC (p.Ser568_Gly569insGlyGlyGlySerTyrGlySer)	gnomAD v4
12	g.52675430_52675450dup	CA2036619116	KRT1	c.1683_1703dup (p.Ser568_Gly569insGlyGlyGlySerTyrGlySer)	dbSNP gnomAD v4
12	g.52675430_52675450del	CA6586055	KRT1	c.1683_1703del (p.Gly562_Ser568del)	dbSNP ExAC gnomAD v4
12	g.52675441_52675482del	CA6586056	KRT1	c.1662_1703del (p.Gly555_Ser568del)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675426A>C	CA384959315	KRT1	c.1702T>G (p.Ser568Ala)
12	g.52675426A>G	CA384959330	KRT1	c.1702T>C (p.Ser568Pro)
12	g.52675426A>T	CA384959335	KRT1	c.1702T>A (p.Ser568Thr)
12	g.52675427G>A	CA480073059	KRT1	c.1701C>T (p.Gly567=)	dbSNP gnomAD v2 gnomAD v4
12	g.52675427G>C	CA480073057	KRT1	c.1701C>G (p.Gly567=)
12	g.52675427G=	CA2036619118	KRT1	c.1701C= (p.Gly567=)
12	g.52675427G>T	CA480073058	KRT1	c.1701C>A (p.Gly567=)	gnomAD v4 COSMIC
12	g.52675427_52675508delinsGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAA	CA2036619119	KRT1	c.1620_1701delinsTTCTGGAGGTGGCGGCGGCGGCGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGC (p.Gly540=)
12	g.52675428C>A	CA384959338	KRT1	c.1700G>T (p.Gly567Val)
12	g.52675428C>G	CA384959341	KRT1	c.1700G>C (p.Gly567Ala)	COSMIC
12	g.52675428C>T	CA384959347	KRT1	c.1700G>A (p.Gly567Asp)	gnomAD v4
12	g.52675436_52675516del	CA6586058	KRT1	c.1620_1700del (p.Ser541_Gly567del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675429C>A	CA384959354	KRT1	c.1699G>T (p.Gly567Cys)
12	g.52675429C>G	CA384959361	KRT1	c.1699G>C (p.Gly567Arg)
12	g.52675429C>T	CA384959351	KRT1	c.1699G>A (p.Gly567Ser)
12	g.52675430A>C	CA384959369	KRT1	c.1698T>G (p.Tyr566Ter)
12	g.52675430A>G	CA480073060	KRT1	c.1698T>C (p.Tyr566=)	gnomAD v4
12	g.52675430A>T	CA384959371	KRT1	c.1698T>A (p.Tyr566Ter)	gnomAD v4
12	g.52675430_52675451delinsATAGCTGCCACCTCCGGAGCCG	CA2036619120	KRT1	c.1677_1698delinsCGGCTCCGGAGGTGGCAGCTAT (p.Tyr559=)
12	g.52675431T>A	CA384959374	KRT1	c.1697A>T (p.Tyr566Phe)
12	g.52675431T>C	CA384959390	KRT1	c.1697A>G (p.Tyr566Cys)	dbSNP gnomAD v3 gnomAD v4
12	g.52675431T>G	CA384959401	KRT1	c.1697A>C (p.Tyr566Ser)	gnomAD v4
12	g.52675431T=	CA2036619121	KRT1	c.1697A= (p.Tyr566=)
12	g.52675438_52675458del	CA6586059	KRT1	c.1677_1697del (p.Gly560_Tyr566del)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675432A>C	CA384959412	KRT1	c.1696T>G (p.Tyr566Asp)
12	g.52675432A>G	CA384959414	KRT1	c.1696T>C (p.Tyr566His)
12	g.52675432A>T	CA384959415	KRT1	c.1696T>A (p.Tyr566Asn)
12	g.52675433G>A	CA6586060	KRT1	c.1695C>T (p.Ser565=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675433G>C	CA384959427	KRT1	c.1695C>G (p.Ser565Arg)
12	g.52675433G=	CA2036619122	KRT1	c.1695C= (p.Ser565=)
12	g.52675433G>T	CA384959431	KRT1	c.1695C>A (p.Ser565Arg)	gnomAD v4
12	g.52675434C>A	CA384959440	KRT1	c.1694G>T (p.Ser565Ile)
12	g.52675434C=	CA2036619123	KRT1	c.1694G= (p.Ser565=)
12	g.52675434C>G	CA384959435	KRT1	c.1694G>C (p.Ser565Thr)
12	g.52675434C>T	CA384959438	KRT1	c.1694G>A (p.Ser565Asn)	dbSNP gnomAD v2 gnomAD v4
12	g.52675435T>A	CA384959453	KRT1	c.1693A>T (p.Ser565Cys)
12	g.52675435T>C	CA6586061	KRT1	c.1693A>G (p.Ser565Gly)	dbSNP ExAC gnomAD v4 COSMIC
12	g.52675435T>G	CA384959455	KRT1	c.1693A>C (p.Ser565Arg)
12	g.52675435T=	CA2036619124	KRT1	c.1693A= (p.Ser565=)
12	g.52675436G>A	CA480073061	KRT1	c.1692C>T (p.Gly564=)	dbSNP gnomAD v4
12	g.52675436G>C	CA480073062	KRT1	c.1692C>G (p.Gly564=)
12	g.52675436G=	CA2036619127	KRT1	c.1692C= (p.Gly564=)
12	g.52675436G>T	CA480073063	KRT1	c.1692C>A (p.Gly564=)
12	g.52675436_52675442delinsGCCACCT	CA2036619126	KRT1	c.1686_1692delinsAGGTGGC (p.Gly562=)
12	g.52675436_52675517delinsGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTA	CA2036619125	KRT1	c.1611_1692delinsTAGCTATGGTTCTGGAGGTGGCGGCGGCGGCGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGC (p.Gly537=)
12	g.52675437C>A	CA384959459	KRT1	c.1691G>T (p.Gly564Val)
12	g.52675437C=	CA2036619128	KRT1	c.1691G= (p.Gly564=)
12	g.52675437C>G	CA384959468	KRT1	c.1691G>C (p.Gly564Ala)
12	g.52675437C>T	CA384959472	KRT1	c.1691G>A (p.Gly564Asp)	dbSNP gnomAD v4
12	g.52675437_52675438del	CA2618946334	KRT1	c.1690_1691del (p.Gly564GlnfsTer?)	gnomAD v4
12	g.52675437_52675441del	CA2842606498	KRT1	c.1687_1691del (p.Gly563GlnfsTer?)
12	g.52675439_52675444del	CA6586062	KRT1	c.1686_1691del (p.Gly563_Gly564del)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675451_52675531del	CA6586063	KRT1	c.1611_1691del (p.Ser538_Gly564del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675438C>A	CA384959481	KRT1	c.1690G>T (p.Gly564Cys)
12	g.52675438C=	CA2036619130	KRT1	c.1690G= (p.Gly564=)
12	g.52675438C>G	CA384959487	KRT1	c.1690G>C (p.Gly564Arg)	gnomAD v4
12	g.52675438C>T	CA384959491	KRT1	c.1690G>A (p.Gly564Ser)	dbSNP
12	g.52675438_52675459delinsCACCTCCGGAGCCGTAGCTGCT	CA2036619129	KRT1	c.1669_1690delinsAGCAGCTACGGCTCCGGAGGTG (p.Ser557=)
12	g.52675439del	CA2618946341	KRT1	c.1689del (p.Gly564AlafsTer?)	gnomAD v4
12	g.52675439A>C	CA480073065	KRT1	c.1689T>G (p.Gly563=)
12	g.52675439A>G	CA480073064	KRT1	c.1689T>C (p.Gly563=)	gnomAD v4
12	g.52675439A>T	CA480073066	KRT1	c.1689T>A (p.Gly563=)
12	g.52675439_52675440delinsAC	CA2036619131	KRT1	c.1688_1689delinsGT (p.Gly563=)
12	g.52675451_52675471dup	CA2618946340	KRT1	c.1669_1689dup (p.Gly563_Gly564insSerSerTyrGlySerGlyGly)	gnomAD v4
12	g.52675451_52675471del	CA217440	KRT1	c.1669_1689del (p.Ser557_Gly563del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.52675440C>A	CA384959536	KRT1	c.1688G>T (p.Gly563Val)	COSMIC
12	g.52675440C>G	CA384959519	KRT1	c.1688G>C (p.Gly563Ala)
12	g.52675440C>T	CA384959531	KRT1	c.1688G>A (p.Gly563Asp)	gnomAD v4
12	g.52675441del	CA6586064	KRT1	c.1688del (p.Gly563ValfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675441_52675444del	CA2796003414	KRT1	c.1685_1688del (p.Gly562ValfsTer?)
12	g.52675440_52675446del	CA2618946345	KRT1	c.1682_1688del (p.Ser561LeufsTer?)	gnomAD v4
12	g.52675441C>A	CA384959543	KRT1	c.1687G>T (p.Gly563Cys)
12	g.52675441C=	CA2036619132	KRT1	c.1687G= (p.Gly563=)
12	g.52675441C>G	CA384959541	KRT1	c.1687G>C (p.Gly563Arg)
12	g.52675441C>T	CA237261472	KRT1	c.1687G>A (p.Gly563Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.52675441_52675446del	CA2618946347	KRT1	c.1682_1687del (p.Ser561_Gly563delinsCys)	gnomAD v4
12	g.52675441_52675459del	CA2618946348	KRT1	c.1669_1687del (p.Ser557ValfsTer?)	gnomAD v4
12	g.52675442_52675461del	CA2618946346	KRT1	c.1668_1687del (p.Ser557TrpfsTer?)	gnomAD v4
12	g.52675441_52675462delinsT	CA2580086464	KRT1	c.1666_1687delinsA (p.Gly556_Gly563delinsSer)	ClinVar
12	g.52675442T>A	CA480073082	KRT1	c.1686A>T (p.Gly562=)
12	g.52675442T>C	CA480073085	KRT1	c.1686A>G (p.Gly562=)	dbSNP
12	g.52675442T>G	CA480073083	KRT1	c.1686A>C (p.Gly562=)
12	g.52675442T=	CA2036619134	KRT1	c.1686A= (p.Gly562=)
12	g.52675442_52675459del	CA2618946351	KRT1	c.1669_1686del (p.Ser557_Gly562del)	gnomAD v4
12	g.52675442_52675462delinsTCCGGAGCCGTAGCTGCTACC	CA2036619133	KRT1	c.1666_1686delinsGGTAGCAGCTACGGCTCCGGA (p.Gly556=)
12	g.52675443C>A	CA384959554	KRT1	c.1685G>T (p.Gly562Val)
12	g.52675443C>G	CA384959559	KRT1	c.1685G>C (p.Gly562Ala)
12	g.52675443C>T	CA384959569	KRT1	c.1685G>A (p.Gly562Glu)
12	g.52675443_52675446del	CA2618946352	KRT1	c.1682_1685del (p.Ser561Ter)	gnomAD v4
12	g.52675443_52675451delinsCCGGAGCCG	CA2036619135	KRT1	c.1677_1685delinsCGGCTCCGG (p.Tyr559=)
12	g.52675446_52675451del	CA2618946354	KRT1	c.1680_1685del (p.Ser561_Gly562del)	gnomAD v4
12	g.52675443_52675462del	CA6586065	KRT1	c.1666_1685del (p.Gly556ArgfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675444C>A	CA384959578	KRT1	c.1684G>T (p.Gly562Ter)
12	g.52675444C=	CA2036619138	KRT1	c.1684G= (p.Gly562=)
12	g.52675444C>G	CA384959590	KRT1	c.1684G>C (p.Gly562Arg)
12	g.52675444C>T	CA384959593	KRT1	c.1684G>A (p.Gly562Arg)	dbSNP
12	g.52675444_52675446delinsCGG	CA2036619136	KRT1	c.1682_1684delinsCCG (p.Ser561=)
12	g.52675444_52675451del	CA6586066	KRT1	c.1677_1684del (p.Tyr559Ter)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675444_52675451delinsCGGAGCCG	CA2036619137	KRT1	c.1677_1684delinsCGGCTCCG (p.Tyr559=)
12	g.52675444_52675459del	CA2842606499	KRT1	c.1669_1684del (p.Ser557GlufsTer?)
12	g.52675444_52675445insA	CA2618946355	KRT1	c.1683_1684insT (p.Gly562TrpfsTer?)	gnomAD v4
12	g.52675445G>A	CA6586069	KRT1	c.1683C>T (p.Ser561=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675445G>C	CA480073090	KRT1	c.1683C>G (p.Ser561=)
12	g.52675445G=	CA2036619139	KRT1	c.1683C= (p.Ser561=)
12	g.52675445G>T	CA480073091	KRT1	c.1683C>A (p.Ser561=)	dbSNP
12	g.52675445_52675446del	CA6586067	KRT1	c.1682_1683del (p.Ser561TrpfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675445_52675448del	CA2618946356	KRT1	c.1680_1683del (p.Ser561GlufsTer?)	gnomAD v4
12	g.52675445_52675451del	CA689868633	KRT1	c.1677_1683del (p.Tyr559Ter)	dbSNP
12	g.52675445_52675460delinsGGAGCCGTAGCTGCTA	CA2036619140	KRT1	c.1668_1683delinsTAGCAGCTACGGCTCC (p.Gly556=)
12	g.52675445_52675446insAGCCATAGCTGCCACCTCCA	CA2618946358	KRT1	c.1682_1683insTGGAGGTGGCAGCTATGGCT (p.Gly569GlufsTer?)	gnomAD v4
12	g.52675446G>A	CA384959603	KRT1	c.1682C>T (p.Ser561Phe)	dbSNP COSMIC
12	g.52675446G>C	CA384959607	KRT1	c.1682C>G (p.Ser561Cys)
12	g.52675446G=	CA2036619141	KRT1	c.1682C= (p.Ser561=)
12	g.52675446G>T	CA384959602	KRT1	c.1682C>A (p.Ser561Tyr)
12	g.52675446_52675460del	CA6586068	KRT1	c.1668_1682del (p.Ser557_Ser561del)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675446_52675462del	CA2796003415	KRT1	c.1666_1682del (p.Gly556ArgfsTer?)
12	g.52675447del	CA2596669791	KRT1	c.1681del (p.Ser561ProfsTer?)	gnomAD v3 gnomAD v4
12	g.52675447A=	CA2036619143	KRT1	c.1681T= (p.Ser561=)
12	g.52675447A>C	CA384959621	KRT1	c.1681T>G (p.Ser561Ala)
12	g.52675447A>G	CA384959610	KRT1	c.1681T>C (p.Ser561Pro)	dbSNP gnomAD v3 gnomAD v4
12	g.52675447A>T	CA384959613	KRT1	c.1681T>A (p.Ser561Thr)	gnomAD v4
12	g.52675447_52675466delinsAGCCGTAGCTGCTACCTCCG	CA2036619142	KRT1	c.1662_1681delinsCGGAGGTAGCAGCTACGGCT (p.Ser554=)
12	g.52675448del	CA2618946365	KRT1	c.1680del (p.Ser561ProfsTer?)	gnomAD v4
12	g.52675448G>A	CA480073096	KRT1	c.1680C>T (p.Gly560=)	dbSNP
12	g.52675448G>C	CA480073097	KRT1	c.1680C>G (p.Gly560=)
12	g.52675448G=	CA2036619144	KRT1	c.1680C= (p.Gly560=)
12	g.52675448G>T	CA480073095	KRT1	c.1680C>A (p.Gly560=)	gnomAD v4
12	g.52675448_52675451del	CA2618946364	KRT1	c.1677_1680del (p.Gly560ProfsTer?)	gnomAD v4
12	g.52675448_52675461del	CA2618946363	KRT1	c.1667_1680del (p.Gly556ValfsTer?)	gnomAD v4
12	g.52675448_52675464del	CA2618946362	KRT1	c.1664_1680del (p.Gly555ValfsTer?)	gnomAD v4
12	g.52675449_52675467del	CA6586070	KRT1	c.1662_1680del (p.Gly555ProfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675449C>A	CA384959635	KRT1	c.1679G>T (p.Gly560Val)
12	g.52675449C>G	CA384959636	KRT1	c.1679G>C (p.Gly560Ala)
12	g.52675449C>T	CA384959637	KRT1	c.1679G>A (p.Gly560Asp)
12	g.52675449_52675450del	CA2575166849	KRT1	c.1678_1679del (p.Gly560LeufsTer?)
12	g.52675449_52675468del	CA2596669792	KRT1	c.1660_1679del (p.Ser554LeufsTer?)	gnomAD v3 gnomAD v4
12	g.52675450C>A	CA384959638	KRT1	c.1678G>T (p.Gly560Cys)
12	g.52675450C>G	CA384959642	KRT1	c.1678G>C (p.Gly560Arg)
12	g.52675450C>T	CA384959647	KRT1	c.1678G>A (p.Gly560Ser)
12	g.52675450_52675452del	CA2618946367	KRT1	c.1676_1678del (p.Tyr559_Gly560delinsCys)	gnomAD v4
12	g.52675451_52675470del	CA2618946368	KRT1	c.1659_1678del (p.Ser554LeufsTer?)	gnomAD v4
12	g.52675450_52675451insATA	CA2618946369	KRT1	c.1677_1678insTAT (p.Tyr559_Gly560insTyr)	gnomAD v4
12	g.52675451G>A	CA6586071	KRT1	c.1677C>T (p.Tyr559=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675451G>C	CA384959657	KRT1	c.1677C>G (p.Tyr559Ter)
12	g.52675451G=	CA2036619145	KRT1	c.1677C= (p.Tyr559=)
12	g.52675451G>T	CA384959659	KRT1	c.1677C>A (p.Tyr559Ter)	dbSNP
12	g.52675451_52675472delinsGTAGCTGCTACCTCCGGAGCCA	CA2036619146	KRT1	c.1656_1677delinsTGGCTCCGGAGGTAGCAGCTAC (p.Tyr552=)
12	g.52675451_52675532delinsGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCCGGAGCCA	CA2036619147	KRT1	c.1596_1677delinsTGGCTCCGGAGGTGGTAGCTATGGTTCTGGAGGTGGCGGCGGCGGCGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTAC (p.Tyr532=)
12	g.52675451_52675452insCTGCCACCTCCAGAGCCA	CA2618946371	KRT1	c.1676_1677insTGGCTCTGGAGGTGGCAG (p.Tyr559_Gly560insGlySerGlyGlyGlySer)	gnomAD v4
12	g.52675451_52675452insCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCA	CA2796003416	KRT1	c.1676_1677insTGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAG (p.Tyr559_Gly560insGlySerGlyGlyGlyGlyGlyGlyHisGlySer)
12	g.52675452T>A	CA384959675	KRT1	c.1676A>T (p.Tyr559Phe)
12	g.52675452T>C	CA384959674	KRT1	c.1676A>G (p.Tyr559Cys)
12	g.52675452T>G	CA384959676	KRT1	c.1676A>C (p.Tyr559Ser)
12	g.52675452_52675465delinsTAGCTGCTACCTCC	CA2036619149	KRT1	c.1663_1676delinsGGAGGTAGCAGCTA (p.Gly555=)
12	g.52675452_52675466delinsTAGCTGCTACCTCCG	CA2036619148	KRT1	c.1662_1676delinsCGGAGGTAGCAGCTA (p.Ser554=)
12	g.52675459_52675479dup	CA6586073	KRT1	c.1656_1676dup (p.Tyr559_Gly560insGlySerGlyGlySerSerTyr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675459_52675479del	CA6586072	KRT1	c.1656_1676del (p.Gly553_Tyr559del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.52675466_52675546del	CA605241238	KRT1	c.1596_1676del (p.Gly533_Tyr559del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675453A>C	CA384959680	KRT1	c.1675T>G (p.Tyr559Asp)
12	g.52675453A>G	CA384959689	KRT1	c.1675T>C (p.Tyr559His)
12	g.52675453A>T	CA384959694	KRT1	c.1675T>A (p.Tyr559Asn)
12	g.52675453_52675465del	CA6586074	KRT1	c.1663_1675del (p.Gly555ThrfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675453_52675466del	CA689868666	KRT1	c.1662_1675del (p.Gly555ArgfsTer?)	dbSNP
12	g.52675453_52675469del	CA2618946373	KRT1	c.1659_1675del (p.Ser554ArgfsTer?)	gnomAD v4
12	g.52675456_52675470del	CA2618946372	KRT1	c.1661_1675del (p.Ser554_Ser558del)	gnomAD v4
12	g.52675454G>A	CA480073103	KRT1	c.1674C>T (p.Ser558=)
12	g.52675454G>C	CA384959698	KRT1	c.1674C>G (p.Ser558Arg)
12	g.52675454G>T	CA384959701	KRT1	c.1674C>A (p.Ser558Arg)	gnomAD v4
12	g.52675454_52675471del	CA2618946374	KRT1	c.1657_1674del (p.Gly553_Ser558del)	gnomAD v4
12	g.52675455C>A	CA384959703	KRT1	c.1673G>T (p.Ser558Ile)
12	g.52675455C>G	CA384959714	KRT1	c.1673G>C (p.Ser558Thr)
12	g.52675455C>T	CA384959717	KRT1	c.1673G>A (p.Ser558Asn)
12	g.52675456T>A	CA384959785	KRT1	c.1672A>T (p.Ser558Cys)
12	g.52675456T>C	CA384959728	KRT1	c.1672A>G (p.Ser558Gly)
12	g.52675456T>G	CA384959725	KRT1	c.1672A>C (p.Ser558Arg)
12	g.52675456_52675475del	CA2842606500	KRT1	c.1653_1672del (p.Ser551ArgfsTer?)
12	g.52675457G>A	CA480073106	KRT1	c.1671C>T (p.Ser557=)	dbSNP
12	g.52675457G>C	CA384959791	KRT1	c.1671C>G (p.Ser557Arg)
12	g.52675457G=	CA2036619150	KRT1	c.1671C= (p.Ser557=)
12	g.52675457G>T	CA384959804	KRT1	c.1671C>A (p.Ser557Arg)
12	g.52675458_52675459insCACGGCCGCCGCCGCCGC	CA2618946375	KRT1	c.1671_1672insGGCGGCGGCGGCCGTGGC (p.Ser557_Ser558insGlyGlyGlyGlyArgGly)	gnomAD v4
12	g.52675458C>A	CA384959808	KRT1	c.1670G>T (p.Ser557Ile)
12	g.52675458C>G	CA384959809	KRT1	c.1670G>C (p.Ser557Thr)
12	g.52675458C>T	CA384959812	KRT1	c.1670G>A (p.Ser557Asn)	gnomAD v4
12	g.52675458_52675459insCACC	CA2618946376	KRT1	c.1670_1671insGTGG (p.Ser557ArgfsTer?)	gnomAD v4
12	g.52675458_52675459insCACGGCCGCCGCCGCCACC	CA605241239	KRT1	c.1670_1671insGTGGCGGCGGCGGCCGTGG (p.Ser557ArgfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675458_52675459insCACGGCCGCCGCCGCCGCCACC	CA605241240	KRT1	c.1670_1671insGTGGCGGCGGCGGCGGCCGTGG (p.Ser557ArgfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675459T>A	CA384959821	KRT1	c.1669A>T (p.Ser557Cys)
12	g.52675459T>C	CA6586075	KRT1	c.1669A>G (p.Ser557Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675459T>G	CA384959831	KRT1	c.1669A>C (p.Ser557Arg)
12	g.52675459T=	CA2036619151	KRT1	c.1669A= (p.Ser557=)
12	g.52675459_52675479delinsTACCTCCGGAGCCATAGCTGC	CA2036619152	KRT1	c.1649_1669delinsGCAGCTATGGCTCCGGAGGTA (p.Gly550=)
12	g.52675459_52675460insCCAGAGCCATAGCTGCC	CA605241243	KRT1	c.1668_1669insGGCAGCTATGGCTCTGG (p.Ser557GlyfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675459_52675460insCCAGAACCATAGCTACC	CA605241242	KRT1	c.1668_1669insGGTAGCTATGGTTCTGG (p.Ser557GlyfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675460A>C	CA480073108	KRT1	c.1668T>G (p.Gly556=)
12	g.52675460A>G	CA480073109	KRT1	c.1668T>C (p.Gly556=)	gnomAD v4
12	g.52675460A>T	CA480073110	KRT1	c.1668T>A (p.Gly556=)
12	g.52675460_52675462del	CA2575166855	KRT1	c.1666_1668del (p.Gly556del)
12	g.52675465_52675466insAGAGCCATAGCTGCCACCTCCAGAGCCATAGCTGCCACCTCC	CA2796003418	KRT1	c.1668_1669insGGCAGCTATGGCTCTGGAGGTGGCAGCTATGGCTCTGGAGGT (p.Gly556_Ser557insGlySerTyrGlySerGlyGlyGlySerTyrGlySerGlyGly)
12	g.52675460_52675479del	CA919089381	KRT1	c.1649_1668del (p.Gly550GlufsTer?)	dbSNP
12	g.52675462_52675482dup	CA2036619153	KRT1	c.1648_1668dup (p.Gly556_Ser557insGlySerTyrGlySerGlyGly)	dbSNP gnomAD v4
12	g.52675495_52675496insACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCC	CA2618946379	KRT1	c.1668_1669insGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCCGTGGCAGCTATGGCTCCGGAGGT (p.Gly556_Ser557insGlySerTyrGlySerGlyGlyGlyGlyGlyGlyArgGlySerTyrGlySerGlyGly)	gnomAD v4
12	g.52675507_52675508insGCCATAGCTGCCACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGA	CA605241241	KRT1	c.1668_1669insGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCGGCCGTGGCAGCTATGGCTCCGGAGGT (p.Gly556_Ser557insGlySerTyrGlySerGlyGlyGlyGlyGlyGlyGlyArgGlySerTyrGlySerGlyGly)	dbSNP gnomAD v2 gnomAD v4
12	g.52675525_52675526insAGAGCCATAGCTGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCC	CA2796003417	KRT1	c.1668_1669insGGCAGCTATGGCTCTGGAGGTGGCAGCTATGGCTCTGGAGGTGGTAGCTATGGTTCTGGAGGTGGCGGCGGCGGCGGCCGTGGCAGCTATGGCTCCGGAGGT (p.Gly556_Ser557insGlySerTyrGlySerGlyGlyGlySerTyrGlySerGlyGlyGlySerTyrGlySerGlyGlyGlyGlyGlyGlyGlyArgGlySerTyrGlySerGlyGly)
12	g.52675480_52675539dup	CA2618946380	KRT1	c.1609_1668dup (p.Gly556_Ser557insGlySerTyrGlySerGlyGlyGlyGlyGlyGlyGlyArgGlySerTyrGlySerGlyGly)	gnomAD v4
12	g.52675480_52675539del	CA2618946378	KRT1	c.1609_1668del (p.Gly537_Gly556del)	gnomAD v4
12	g.52675461C>A	CA384959832	KRT1	c.1667G>T (p.Gly556Val)
12	g.52675461C>G	CA384959835	KRT1	c.1667G>C (p.Gly556Ala)
12	g.52675461C>T	CA384959839	KRT1	c.1667G>A (p.Gly556Asp)
12	g.52675461_52675462insGG	CA2575166857	KRT1	c.1666_1667insCC (p.Gly556AlafsTer?)
12	g.52675462C>A	CA384959870	KRT1	c.1666G>T (p.Gly556Cys)
12	g.52675462C=	CA2036619154	KRT1	c.1666G= (p.Gly556=)
12	g.52675462C>G	CA248416	KRT1	c.1666G>C (p.Gly556Arg)	ClinVar dbSNP
12	g.52675462C>T	CA237261529	KRT1	c.1666G>A (p.Gly556Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched