Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.52675336_52675486delinsTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCC	CA2036619056	KRT1	c.1642_1792delinsGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAGCTACGGCTCCGGAAGCAGCAGTGGGGGCTACAGAGGTGGCTCTGGAGGCGGCGGCGGCGGCA (p.Gly548=)
12	g.52675349_52675498del	CA947736885	KRT1	c.1642_1791del (p.Gly548_Gly597del)	dbSNP gnomAD v3 gnomAD v4
12	g.52675362_52675430del	CA2618946314	KRT1	c.1710_1778del (p.Gly571_Gly593del)	gnomAD v4
12	g.52675384_52675462delinsTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACC	CA2036619088	KRT1	c.1666_1744delinsGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAGCTACGGCTCCGGAA (p.Gly556=)
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.52675394_52675472delinsGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCA	CA2036619095	KRT1	c.1656_1734delinsTGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAGCTAC (p.Tyr552=)
12	g.52675404_52675481del	CA6586044	KRT1	c.1656_1733del (p.Gly553_Tyr578del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675404_52675460del	CA2796003413	KRT1	c.1669_1725del (p.Ser557_His575del)
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.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.52675414_52675434dup	CA605241235	KRT1	c.1696_1716dup (p.Gly572_Gly573insTyrGlySerGlyGlyGlyGly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675414_52675435delinsCGCCACCTCCAGAGCCATAGCT	CA2036619109	KRT1	c.1693_1714delinsAGCTATGGCTCTGGAGGTGGCG (p.Ser565=)
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.52675417_52675459delinsCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCT	CA2036619112	KRT1	c.1669_1711delinsAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTG (p.Ser557=)
12	g.52675424_52675465del	CA6586053	KRT1	c.1669_1710del (p.Ser557_Gly570del)	dbSNP ExAC gnomAD v2
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.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_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.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
12	g.52675463T>A	CA480073114	KRT1	c.1665A>T (p.Gly555=)
12	g.52675463T>C	CA480073113	KRT1	c.1665A>G (p.Gly555=)
12	g.52675463T>G	CA480073112	KRT1	c.1665A>C (p.Gly555=)
12	g.52675464C>A	CA384959880	KRT1	c.1664G>T (p.Gly555Val)
12	g.52675464C>G	CA384959884	KRT1	c.1664G>C (p.Gly555Ala)
12	g.52675464C>T	CA384959883	KRT1	c.1664G>A (p.Gly555Glu)
12	g.52675465C>A	CA384959887	KRT1	c.1663G>T (p.Gly555Ter)
12	g.52675465C=	CA2036619155	KRT1	c.1663G= (p.Gly555=)
12	g.52675465C>G	CA384959894	KRT1	c.1663G>C (p.Gly555Arg)
12	g.52675465C>T	CA6586076	KRT1	c.1663G>A (p.Gly555Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675466G>A	CA6586077	KRT1	c.1662C>T (p.Ser554=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675466G>C	CA480073118	KRT1	c.1662C>G (p.Ser554=)
12	g.52675466G=	CA2036619156	KRT1	c.1662C= (p.Ser554=)
12	g.52675466G>T	CA480073119	KRT1	c.1662C>A (p.Ser554=)
12	g.52675467G>A	CA384959904	KRT1	c.1661C>T (p.Ser554Phe)
12	g.52675467G>C	CA384959917	KRT1	c.1661C>G (p.Ser554Cys)
12	g.52675467G>T	CA384959922	KRT1	c.1661C>A (p.Ser554Tyr)
12	g.52675468A=	CA2036619157	KRT1	c.1660T= (p.Ser554=)
12	g.52675468A>C	CA384959927	KRT1	c.1660T>G (p.Ser554Ala)
12	g.52675468A>G	CA6586078	KRT1	c.1660T>C (p.Ser554Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675468A>T	CA384959947	KRT1	c.1660T>A (p.Ser554Thr)
12	g.52675469G>A	CA480073123	KRT1	c.1659C>T (p.Gly553=)
12	g.52675469G>C	CA480073124	KRT1	c.1659C>G (p.Gly553=)
12	g.52675469G>T	CA480073125	KRT1	c.1659C>A (p.Gly553=)	gnomAD v4
12	g.52675470C>A	CA384959951	KRT1	c.1658G>T (p.Gly553Val)
12	g.52675470C>G	CA384959954	KRT1	c.1658G>C (p.Gly553Ala)
12	g.52675470C>T	CA384959968	KRT1	c.1658G>A (p.Gly553Asp)
12	g.52675478_52675516del	CA2618946381	KRT1	c.1620_1658del (p.Ser541_Gly553del)	gnomAD v4
12	g.52675471C>A	CA384959986	KRT1	c.1657G>T (p.Gly553Cys)
12	g.52675471C>G	CA384959977	KRT1	c.1657G>C (p.Gly553Arg)
12	g.52675471C>T	CA384959974	KRT1	c.1657G>A (p.Gly553Ser)
12	g.52675472A=	CA2036619158	KRT1	c.1656T= (p.Tyr552=)
12	g.52675472A>C	CA384959989	KRT1	c.1656T>G (p.Tyr552Ter)
12	g.52675472A>G	CA6586079	KRT1	c.1656T>C (p.Tyr552=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675472A>T	CA384959993	KRT1	c.1656T>A (p.Tyr552Ter)	gnomAD v4
12	g.52675473T>A	CA6586080	KRT1	c.1655A>T (p.Tyr552Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675473T>C	CA384960019	KRT1	c.1655A>G (p.Tyr552Cys)	gnomAD v4
12	g.52675473T>G	CA384960027	KRT1	c.1655A>C (p.Tyr552Ser)
12	g.52675473T=	CA2036619159	KRT1	c.1655A= (p.Tyr552=)
12	g.52675516_52675517insGCCACCTCCGGAGCCGTAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCT	CA2618946382	KRT1	c.1655_1656insCGGCTCCGGAGGTGGCAGCTATGGTTCTGGAGGTGGCGGCGGCGGCGGCCGTGGCAGCTA (p.Tyr552_Gly553insGlySerGlyGlyGlySerTyrGlySerGlyGlyGlyGlyGlyGlyGlyArgGlySerTyr)	gnomAD v4
12	g.52675474A=	CA2036619161	KRT1	c.1654T= (p.Tyr552=)
12	g.52675474A>C	CA384960029	KRT1	c.1654T>G (p.Tyr552Asp)
12	g.52675474A>G	CA384960034	KRT1	c.1654T>C (p.Tyr552His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675474A>T	CA384960035	KRT1	c.1654T>A (p.Tyr552Asn)
12	g.52675474_52675477delinsAGCT	CA2036619160	KRT1	c.1651_1654delinsAGCT (p.Ser551=)
12	g.52675475G>A	CA480073130	KRT1	c.1653C>T (p.Ser551=)	gnomAD v4
12	g.52675475G>C	CA384960036	KRT1	c.1653C>G (p.Ser551Arg)
12	g.52675475G>T	CA384960038	KRT1	c.1653C>A (p.Ser551Arg)	gnomAD v4
12	g.52675477_52675479del	CA237261544	KRT1	c.1651_1653del (p.Ser551del)	dbSNP
12	g.52675476C>A	CA384960057	KRT1	c.1652G>T (p.Ser551Ile)	gnomAD v4
12	g.52675476C>G	CA384960065	KRT1	c.1652G>C (p.Ser551Thr)	gnomAD v4
12	g.52675476C>T	CA384960054	KRT1	c.1652G>A (p.Ser551Asn)
12	g.52675477T>A	CA384960075	KRT1	c.1651A>T (p.Ser551Cys)
12	g.52675477T>C	CA384960085	KRT1	c.1651A>G (p.Ser551Gly)
12	g.52675477T>G	CA384960089	KRT1	c.1651A>C (p.Ser551Arg)
12	g.52675478G>A	CA237261546	KRT1	c.1650C>T (p.Gly550=)	dbSNP
12	g.52675478G>C	CA480073135	KRT1	c.1650C>G (p.Gly550=)
12	g.52675478G=	CA2036619162	KRT1	c.1650C= (p.Gly550=)
12	g.52675478G>T	CA480073134	KRT1	c.1650C>A (p.Gly550=)	dbSNP gnomAD v4
12	g.52675483_52675500del	CA2575166858	KRT1	c.1633_1650del (p.Gly545_Gly550del)
12	g.52675479C>A	CA384960120	KRT1	c.1649G>T (p.Gly550Val)
12	g.52675479C=	CA2036619163	KRT1	c.1649G= (p.Gly550=)
12	g.52675479C>G	CA384960106	KRT1	c.1649G>C (p.Gly550Ala)
12	g.52675479C>T	CA6586081	KRT1	c.1649G>A (p.Gly550Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675483_52675521del	CA2618946384	KRT1	c.1611_1649del (p.Ser538_Gly550del)	gnomAD v4
12	g.52675480C>A	CA384960130	KRT1	c.1648G>T (p.Gly550Cys)	gnomAD v4 COSMIC
12	g.52675480C=	CA2036619164	KRT1	c.1648G= (p.Gly550=)
12	g.52675480C>G	CA384960131	KRT1	c.1648G>C (p.Gly550Arg)
12	g.52675480C>T	CA384960132	KRT1	c.1648G>A (p.Gly550Ser)	dbSNP
12	g.52675481A>C	CA480073139	KRT1	c.1647T>G (p.Arg549=)
12	g.52675481A>G	CA480073140	KRT1	c.1647T>C (p.Arg549=)
12	g.52675481A>T	CA480073142	KRT1	c.1647T>A (p.Arg549=)
12	g.52675482C>A	CA384960136	KRT1	c.1646G>T (p.Arg549Leu)
12	g.52675482C=	CA2036619165	KRT1	c.1646G= (p.Arg549=)
12	g.52675482C>G	CA384960141	KRT1	c.1646G>C (p.Arg549Pro)
12	g.52675482C>T	CA384960143	KRT1	c.1646G>A (p.Arg549His)	dbSNP gnomAD v4
12	g.52675483G>A	CA6586084	KRT1	c.1645C>T (p.Arg549Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675483G>C	CA384960148	KRT1	c.1645C>G (p.Arg549Gly)
12	g.52675483G=	CA2036619167	KRT1	c.1645C= (p.Arg549=)
12	g.52675483G>T	CA384960146	KRT1	c.1645C>A (p.Arg549Ser)
12	g.52675483_52675486delinsGGCC	CA2036619166	KRT1	c.1642_1645delinsGGCC (p.Gly548=)
12	g.52675484G>A	CA480073145	KRT1	c.1644C>T (p.Gly548=)	gnomAD v4
12	g.52675484G>C	CA480073146	KRT1	c.1644C>G (p.Gly548=)
12	g.52675484G>T	CA480073147	KRT1	c.1644C>A (p.Gly548=)
12	g.52675496_52675498dup	CA480073148	KRT1	c.1642_1644dup (p.Gly548_Arg549insGly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675493_52675498dup	CA6586083	KRT1	c.1639_1644dup (p.Gly548_Arg549insGlyGly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675496_52675498del	CA6586082	KRT1	c.1642_1644del (p.Gly548del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675493_52675498del	CA2618946385	KRT1	c.1639_1644del (p.Gly547_Gly548del)	gnomAD v4
12	g.52675485C>A	CA384960159	KRT1	c.1643G>T (p.Gly548Val)
12	g.52675485C>G	CA384960161	KRT1	c.1643G>C (p.Gly548Ala)
12	g.52675485C>T	CA384960164	KRT1	c.1643G>A (p.Gly548Asp)	gnomAD v4
12	g.52675486C>A	CA384960169	KRT1	c.1642G>T (p.Gly548Cys)
12	g.52675486C=	CA2036619168	KRT1	c.1642G= (p.Gly548=)
12	g.52675486C>G	CA384960175	KRT1	c.1642G>C (p.Gly548Arg)
12	g.52675486C>T	CA6586085	KRT1	c.1642G>A (p.Gly548Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675487G>A	CA480073154	KRT1	c.1641C>T (p.Gly547=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.52675487G>C	CA480073155	KRT1	c.1641C>G (p.Gly547=)
12	g.52675487G=	CA2036619169	KRT1	c.1641C= (p.Gly547=)
12	g.52675487G>T	CA480073152	KRT1	c.1641C>A (p.Gly547=)	gnomAD v4
12	g.52675488C>A	CA384960178	KRT1	c.1640G>T (p.Gly547Val)
12	g.52675488C=	CA2036619170	KRT1	c.1640G= (p.Gly547=)
12	g.52675488C>G	CA384960179	KRT1	c.1640G>C (p.Gly547Ala)
12	g.52675488C>T	CA384960180	KRT1	c.1640G>A (p.Gly547Asp)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.52675489C>A	CA6586086	KRT1	c.1639G>T (p.Gly547Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675489C=	CA2036619171	KRT1	c.1639G= (p.Gly547=)
12	g.52675489C>G	CA384960184	KRT1	c.1639G>C (p.Gly547Arg)
12	g.52675489C>T	CA6586087	KRT1	c.1639G>A (p.Gly547Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675490G>A	CA6586088	KRT1	c.1638C>T (p.Gly546=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675490G>C	CA480073159	KRT1	c.1638C>G (p.Gly546=)
12	g.52675490G=	CA2036619172	KRT1	c.1638C= (p.Gly546=)
12	g.52675490G>T	CA480073157	KRT1	c.1638C>A (p.Gly546=)	gnomAD v4
12	g.52675491C>A	CA384960194	KRT1	c.1637G>T (p.Gly546Val)
12	g.52675491C>G	CA384960199	KRT1	c.1637G>C (p.Gly546Ala)
12	g.52675491C>T	CA384960211	KRT1	c.1637G>A (p.Gly546Asp)
12	g.52675492del	CA2618946386	KRT1	c.1637del (p.Gly546AlafsTer?)	gnomAD v4
12	g.52675505_52675573del	CA947737031	KRT1	c.1569_1637del (p.Gly524_Gly546del)	gnomAD v3 gnomAD v4
12	g.52675492C>A	CA384960219	KRT1	c.1636G>T (p.Gly546Cys)
12	g.52675492C=	CA2036619173	KRT1	c.1636G= (p.Gly546=)
12	g.52675492C>G	CA384960220	KRT1	c.1636G>C (p.Gly546Arg)
12	g.52675492C>T	CA6586089	KRT1	c.1636G>A (p.Gly546Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675493G>A	CA480073162	KRT1	c.1635C>T (p.Gly545=)	dbSNP gnomAD v2 gnomAD v4
12	g.52675493G>C	CA480073163	KRT1	c.1635C>G (p.Gly545=)
12	g.52675493G=	CA2036619174	KRT1	c.1635C= (p.Gly545=)
12	g.52675493G>T	CA480073164	KRT1	c.1635C>A (p.Gly545=)	gnomAD v4
12	g.52675494C>A	CA384960222	KRT1	c.1634G>T (p.Gly545Val)
12	g.52675494C=	CA2036619175	KRT1	c.1634G= (p.Gly545=)
12	g.52675494C>G	CA384960227	KRT1	c.1634G>C (p.Gly545Ala)
12	g.52675494C>T	CA384960223	KRT1	c.1634G>A (p.Gly545Asp)	dbSNP gnomAD v4
12	g.52675495C>A	CA384960235	KRT1	c.1633G>T (p.Gly545Cys)	gnomAD v4
12	g.52675495C=	CA2036619176	KRT1	c.1633G= (p.Gly545=)
12	g.52675495C>G	CA384960240	KRT1	c.1633G>C (p.Gly545Arg)
12	g.52675495C>T	CA6586090	KRT1	c.1633G>A (p.Gly545Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.52675496G>A	CA6586091	KRT1	c.1632C>T (p.Gly544=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.52675496G>C	CA480073167	KRT1	c.1632C>G (p.Gly544=)	dbSNP gnomAD v3 gnomAD v4
12	g.52675496G=	CA2036619177	KRT1	c.1632C= (p.Gly544=)
12	g.52675496G>T	CA480073169	KRT1	c.1632C>A (p.Gly544=)	dbSNP gnomAD v4
12	g.52675497C>A	CA384960262	KRT1	c.1631G>T (p.Gly544Val)
12	g.52675497C>G	CA384960256	KRT1	c.1631G>C (p.Gly544Ala)
12	g.52675497C>T	CA384960261	KRT1	c.1631G>A (p.Gly544Asp)
12	g.52675499_52675501dup	CA2036619178	KRT1	c.1629_1631dup (p.Gly544_Gly545insGly)	dbSNP gnomAD v4
12	g.52675505_52675525dup	CA947737045	KRT1	c.1611_1631dup (p.Gly544_Gly545insSerTyrGlySerGlyGlyGly)	dbSNP gnomAD v3 gnomAD v4
12	g.52675498C>A	CA384960263	KRT1	c.1630G>T (p.Gly544Cys)
12	g.52675498C=	CA2036619179	KRT1	c.1630G= (p.Gly544=)
12	g.52675498C>G	CA384960264	KRT1	c.1630G>C (p.Gly544Arg)
12	g.52675498C>T	CA384960270	KRT1	c.1630G>A (p.Gly544Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.52675499A>C	CA480073171	KRT1	c.1629T>G (p.Gly543=)
12	g.52675499A>G	CA480073173	KRT1	c.1629T>C (p.Gly543=)	COSMIC
12	g.52675499A>T	CA480073175	KRT1	c.1629T>A (p.Gly543=)
12	g.52675499_52675500delinsAC	CA2036619180	KRT1	c.1628_1629delinsGT (p.Gly543=)
12	g.52675500C>A	CA6586092	KRT1	c.1628G>T (p.Gly543Val)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675500C=	CA2036619181	KRT1	c.1628G= (p.Gly543=)
12	g.52675500C>G	CA384960278	KRT1	c.1628G>C (p.Gly543Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.52675500C>T	CA384960286	KRT1	c.1628G>A (p.Gly543Asp)
12	g.52675501del	CA217439	KRT1	c.1628del (p.Gly543ValfsTer?)	ClinVar dbSNP
12	g.52675501C>A	CA384960305	KRT1	c.1627G>T (p.Gly543Cys)
12	g.52675501C=	CA2036619182	KRT1	c.1627G= (p.Gly543=)
12	g.52675501C>G	CA384960306	KRT1	c.1627G>C (p.Gly543Arg)	gnomAD v4
12	g.52675501C>T	CA384960307	KRT1	c.1627G>A (p.Gly543Ser)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.52675502T>A	CA480073179	KRT1	c.1626A>T (p.Gly542=)
12	g.52675502T>C	CA480073180	KRT1	c.1626A>G (p.Gly542=)
12	g.52675502T>G	CA480073181	KRT1	c.1626A>C (p.Gly542=)
12	g.52675503C>A	CA384960309	KRT1	c.1625G>T (p.Gly542Val)	gnomAD v4
12	g.52675503C>G	CA384960321	KRT1	c.1625G>C (p.Gly542Ala)
12	g.52675503C>T	CA384960325	KRT1	c.1625G>A (p.Gly542Glu)
12	g.52675504C>A	CA384960329	KRT1	c.1624G>T (p.Gly542Ter)
12	g.52675504C>G	CA384960336	KRT1	c.1624G>C (p.Gly542Arg)	gnomAD v4
12	g.52675504C>T	CA384960333	KRT1	c.1624G>A (p.Gly542Arg)
12	g.52675505A=	CA2036619183	KRT1	c.1623T= (p.Ser541=)
12	g.52675505A>C	CA480073185	KRT1	c.1623T>G (p.Ser541=)
12	g.52675505A>G	CA237261578	KRT1	c.1623T>C (p.Ser541=)	dbSNP gnomAD v3 gnomAD v4
12	g.52675505A>T	CA480073186	KRT1	c.1623T>A (p.Ser541=)
12	g.52675506G>A	CA384960343	KRT1	c.1622C>T (p.Ser541Phe)	gnomAD v4
12	g.52675506G>C	CA384960349	KRT1	c.1622C>G (p.Ser541Cys)
12	g.52675506G>T	CA384960353	KRT1	c.1622C>A (p.Ser541Tyr)
12	g.52675507A=	CA2036619184	KRT1	c.1621T= (p.Ser541=)
12	g.52675507A>C	CA384960362	KRT1	c.1621T>G (p.Ser541Ala)
12	g.52675507A>G	CA384960363	KRT1	c.1621T>C (p.Ser541Pro)
12	g.52675507A>T	CA384960364	KRT1	c.1621T>A (p.Ser541Thr)	dbSNP
12	g.52675508A=	CA2036619185	KRT1	c.1620T= (p.Gly540=)
12	g.52675508A>C	CA480073187	KRT1	c.1620T>G (p.Gly540=)
12	g.52675508A>G	CA237261581	KRT1	c.1620T>C (p.Gly540=)	dbSNP gnomAD v4
12	g.52675508A>T	CA480073188	KRT1	c.1620T>A (p.Gly540=)
12	g.52675509C>A	CA384960372	KRT1	c.1619G>T (p.Gly540Val)	gnomAD v4
12	g.52675509C>G	CA384960376	KRT1	c.1619G>C (p.Gly540Ala)
12	g.52675509C>T	CA384960384	KRT1	c.1619G>A (p.Gly540Asp)
12	g.52675510C>A	CA6586094	KRT1	c.1618G>T (p.Gly540Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675510C=	CA2036619186	KRT1	c.1618G= (p.Gly540=)
12	g.52675510C>G	CA384960416	KRT1	c.1618G>C (p.Gly540Arg)
12	g.52675510C>T	CA6586093	KRT1	c.1618G>A (p.Gly540Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675511A=	CA2036619187	KRT1	c.1617T= (p.Tyr539=)
12	g.52675511A>C	CA384960423	KRT1	c.1617T>G (p.Tyr539Ter)
12	g.52675511A>G	CA6586095	KRT1	c.1617T>C (p.Tyr539=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675511A>T	CA384960424	KRT1	c.1617T>A (p.Tyr539Ter)
12	g.52675512T>A	CA384960427	KRT1	c.1616A>T (p.Tyr539Phe)
12	g.52675512T>C	CA384960428	KRT1	c.1616A>G (p.Tyr539Cys)	dbSNP gnomAD v4
12	g.52675512T>G	CA384960429	KRT1	c.1616A>C (p.Tyr539Ser)
12	g.52675512T=	CA2036619188	KRT1	c.1616A= (p.Tyr539=)
12	g.52675513A>C	CA384960434	KRT1	c.1615T>G (p.Tyr539Asp)
12	g.52675513A>G	CA384960437	KRT1	c.1615T>C (p.Tyr539His)
12	g.52675513A>T	CA384960446	KRT1	c.1615T>A (p.Tyr539Asn)	COSMIC
12	g.52675514G>A	CA480073194	KRT1	c.1614C>T (p.Ser538=)
12	g.52675514G>C	CA384960449	KRT1	c.1614C>G (p.Ser538Arg)	gnomAD v4
12	g.52675514G>T	CA384960450	KRT1	c.1614C>A (p.Ser538Arg)
12	g.52675515C>A	CA384960451	KRT1	c.1613G>T (p.Ser538Ile)
12	g.52675515C>G	CA384960452	KRT1	c.1613G>C (p.Ser538Thr)
12	g.52675515C>T	CA384960453	KRT1	c.1613G>A (p.Ser538Asn)
12	g.52675516T>A	CA384960462	KRT1	c.1612A>T (p.Ser538Cys)	gnomAD v4
12	g.52675516T>C	CA384960465	KRT1	c.1612A>G (p.Ser538Gly)
12	g.52675516T>G	CA384960456	KRT1	c.1612A>C (p.Ser538Arg)
12	g.52675517A=	CA2036619190	KRT1	c.1611T= (p.Gly537=)
12	g.52675517A>C	CA6586096	KRT1	c.1611T>G (p.Gly537=)	dbSNP ExAC gnomAD v2
12	g.52675517A>G	CA237261595	KRT1	c.1611T>C (p.Gly537=)	dbSNP gnomAD v2 gnomAD v4
12	g.52675517A>T	CA480073196	KRT1	c.1611T>A (p.Gly537=)
12	g.52675517_52675519delinsACC	CA2036619189	KRT1	c.1609_1611delinsGGT (p.Gly537=)
12	g.52675518C>A	CA384960483	KRT1	c.1610G>T (p.Gly537Val)
12	g.52675518C>G	CA384960489	KRT1	c.1610G>C (p.Gly537Ala)
12	g.52675518C>T	CA384960490	KRT1	c.1610G>A (p.Gly537Asp)
12	g.52675518_52675519delinsT	CA126052	KRT1	c.1609_1610delinsA (p.Gly537IlefsTer?)	ClinVar dbSNP
12	g.52675519C>A	CA384960507	KRT1	c.1609G>T (p.Gly537Cys)
12	g.52675519C=	CA2036619191	KRT1	c.1609G= (p.Gly537=)
12	g.52675519C>G	CA384960491	KRT1	c.1609G>C (p.Gly537Arg)
12	g.52675519C>T	CA384960502	KRT1	c.1609G>A (p.Gly537Ser)	dbSNP COSMIC
12	g.52675520A>C	CA480073200	KRT1	c.1608T>G (p.Gly536=)
12	g.52675520A>G	CA480073201	KRT1	c.1608T>C (p.Gly536=)
12	g.52675520A>T	CA480073202	KRT1	c.1608T>A (p.Gly536=)
12	g.52675521C>A	CA384960508	KRT1	c.1607G>T (p.Gly536Val)	gnomAD v4
12	g.52675521C=	CA2036619192	KRT1	c.1607G= (p.Gly536=)
12	g.52675521C>G	CA384960509	KRT1	c.1607G>C (p.Gly536Ala)
12	g.52675521C>T	CA384960511	KRT1	c.1607G>A (p.Gly536Asp)	dbSNP gnomAD v2 gnomAD v4
12	g.52675522C>A	CA384960516	KRT1	c.1606G>T (p.Gly536Cys)
12	g.52675522C=	CA2036619193	KRT1	c.1606G= (p.Gly536=)
12	g.52675522C>G	CA384960519	KRT1	c.1606G>C (p.Gly536Arg)	dbSNP
12	g.52675522C>T	CA384960521	KRT1	c.1606G>A (p.Gly536Ser)
12	g.52675523T>A	CA480073205	KRT1	c.1605A>T (p.Gly535=)
12	g.52675523T>C	CA480073207	KRT1	c.1605A>G (p.Gly535=)
12	g.52675523T>G	CA480073208	KRT1	c.1605A>C (p.Gly535=)
12	g.52675524C>A	CA384960526	KRT1	c.1604G>T (p.Gly535Val)	dbSNP gnomAD v2 gnomAD v4
12	g.52675524C=	CA2036619194	KRT1	c.1604G= (p.Gly535=)
12	g.52675524C>G	CA384960528	KRT1	c.1604G>C (p.Gly535Ala)
12	g.52675524C>T	CA384960527	KRT1	c.1604G>A (p.Gly535Glu)

Number of alleles fetched