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.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.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.52675424_52675465del	CA6586053	KRT1	c.1669_1710del (p.Ser557_Gly570del)	dbSNP ExAC gnomAD v2
12	g.52675424_52675466delinsAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCG	CA2036619115	KRT1	c.1662_1704delinsCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCT (p.Ser554=)
12	g.52675441_52675482del	CA6586056	KRT1	c.1662_1703del (p.Gly555_Ser568del)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675427_52675508delinsGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAA	CA2036619119	KRT1	c.1620_1701delinsTTCTGGAGGTGGCGGCGGCGGCGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGC (p.Gly540=)
12	g.52675436_52675516del	CA6586058	KRT1	c.1620_1700del (p.Ser541_Gly567del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675436_52675517delinsGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTA	CA2036619125	KRT1	c.1611_1692delinsTAGCTATGGTTCTGGAGGTGGCGGCGGCGGCGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGC (p.Gly537=)
12	g.52675451_52675531del	CA6586063	KRT1	c.1611_1691del (p.Ser538_Gly564del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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.52675441_52675462delinsT	CA2580086464	KRT1	c.1666_1687delinsA (p.Gly556_Gly563delinsSer)	ClinVar
12	g.52675442_52675462delinsTCCGGAGCCGTAGCTGCTACC	CA2036619133	KRT1	c.1666_1686delinsGGTAGCAGCTACGGCTCCGGA (p.Gly556=)
12	g.52675443_52675462del	CA6586065	KRT1	c.1666_1685del (p.Gly556ArgfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675446_52675462del	CA2796003415	KRT1	c.1666_1682del (p.Gly556ArgfsTer?)
12	g.52675447_52675466delinsAGCCGTAGCTGCTACCTCCG	CA2036619142	KRT1	c.1662_1681delinsCGGAGGTAGCAGCTACGGCT (p.Ser554=)
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.52675449_52675468del	CA2596669792	KRT1	c.1660_1679del (p.Ser554LeufsTer?)	gnomAD v3 gnomAD v4
12	g.52675451_52675470del	CA2618946368	KRT1	c.1659_1678del (p.Ser554LeufsTer?)	gnomAD v4
12	g.52675451_52675472delinsGTAGCTGCTACCTCCGGAGCCA	CA2036619146	KRT1	c.1656_1677delinsTGGCTCCGGAGGTAGCAGCTAC (p.Tyr552=)
12	g.52675451_52675532delinsGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCCGGAGCCA	CA2036619147	KRT1	c.1596_1677delinsTGGCTCCGGAGGTGGTAGCTATGGTTCTGGAGGTGGCGGCGGCGGCGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTAC (p.Tyr532=)
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.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.52675454_52675471del	CA2618946374	KRT1	c.1657_1674del (p.Gly553_Ser558del)	gnomAD v4
12	g.52675459_52675479delinsTACCTCCGGAGCCATAGCTGC	CA2036619152	KRT1	c.1649_1669delinsGCAGCTATGGCTCCGGAGGTA (p.Gly550=)
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.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)
12	g.52675525C>A	CA384960535	KRT1	c.1603G>T (p.Gly535Ter)
12	g.52675525C=	CA2036619195	KRT1	c.1603G= (p.Gly535=)
12	g.52675525C>G	CA384960539	KRT1	c.1603G>C (p.Gly535Arg)
12	g.52675525C>T	CA6586097	KRT1	c.1603G>A (p.Gly535Arg)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.52675526G>A	CA6586098	KRT1	c.1602C>T (p.Ser534=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.52675526G>C	CA480073212	KRT1	c.1602C>G (p.Ser534=)
12	g.52675526G=	CA2036619196	KRT1	c.1602C= (p.Ser534=)
12	g.52675526G>T	CA480073213	KRT1	c.1602C>A (p.Ser534=)
12	g.52675527G>A	CA384960553	KRT1	c.1601C>T (p.Ser534Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675527G>C	CA384960563	KRT1	c.1601C>G (p.Ser534Cys)
12	g.52675527G=	CA2036619198	KRT1	c.1601C= (p.Ser534=)
12	g.52675527G>T	CA384960559	KRT1	c.1601C>A (p.Ser534Tyr)	dbSNP gnomAD v4
12	g.52675527_52675554delinsGAGCCATAGCTGCTACCTCCAGAGCCGT	CA2036619197	KRT1	c.1574_1601delinsACGGCTCTGGAGGTAGCAGCTATGGCTC (p.Tyr525=)
12	g.52675528A>C	CA384960575	KRT1	c.1600T>G (p.Ser534Ala)
12	g.52675528A>G	CA384960584	KRT1	c.1600T>C (p.Ser534Pro)
12	g.52675528A>T	CA384960588	KRT1	c.1600T>A (p.Ser534Thr)
12	g.52675533_52675559del	CA217437	KRT1	c.1574_1600del (p.Tyr525_Gly533del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675529G>A	CA480073217	KRT1	c.1599C>T (p.Gly533=)	dbSNP
12	g.52675529G>C	CA480073216	KRT1	c.1599C>G (p.Gly533=)
12	g.52675529G=	CA2036619199	KRT1	c.1599C= (p.Gly533=)
12	g.52675529G>T	CA480073215	KRT1	c.1599C>A (p.Gly533=)
12	g.52675530C>A	CA384960610	KRT1	c.1598G>T (p.Gly533Val)
12	g.52675530C>G	CA384960616	KRT1	c.1598G>C (p.Gly533Ala)
12	g.52675530C>T	CA384960617	KRT1	c.1598G>A (p.Gly533Asp)
12	g.52675531C>A	CA384960618	KRT1	c.1597G>T (p.Gly533Cys)
12	g.52675531C>G	CA384960620	KRT1	c.1597G>C (p.Gly533Arg)	gnomAD v4
12	g.52675531C>T	CA384960623	KRT1	c.1597G>A (p.Gly533Ser)
12	g.52675532A=	CA2036619200	KRT1	c.1596T= (p.Tyr532=)
12	g.52675532A>C	CA384960624	KRT1	c.1596T>G (p.Tyr532Ter)
12	g.52675532A>G	CA480073220	KRT1	c.1596T>C (p.Tyr532=)	dbSNP gnomAD v4
12	g.52675532A>T	CA384960638	KRT1	c.1596T>A (p.Tyr532Ter)
12	g.52675533_52675534dup	CA2695216815	KRT1	c.1595_1596dup (p.Gly533MetfsTer?)
12	g.52675533T>A	CA384960642	KRT1	c.1595A>T (p.Tyr532Phe)
12	g.52675533T>C	CA237261606	KRT1	c.1595A>G (p.Tyr532Cys)	dbSNP gnomAD v4
12	g.52675533T>G	CA384960650	KRT1	c.1595A>C (p.Tyr532Ser)
12	g.52675533T=	CA2036619201	KRT1	c.1595A= (p.Tyr532=)
12	g.52675534A>C	CA384960659	KRT1	c.1594T>G (p.Tyr532Asp)
12	g.52675534A>G	CA384960663	KRT1	c.1594T>C (p.Tyr532His)
12	g.52675534A>T	CA384960665	KRT1	c.1594T>A (p.Tyr532Asn)
12	g.52675535G>A	CA237261609	KRT1	c.1593C>T (p.Ser531=)	dbSNP
12	g.52675535G>C	CA384960671	KRT1	c.1593C>G (p.Ser531Arg)
12	g.52675535G=	CA2036619202	KRT1	c.1593C= (p.Ser531=)
12	g.52675535G>T	CA384960672	KRT1	c.1593C>A (p.Ser531Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.52675536C>A	CA384960679	KRT1	c.1592G>T (p.Ser531Ile)
12	g.52675536C>G	CA384960682	KRT1	c.1592G>C (p.Ser531Thr)
12	g.52675536C>T	CA384960688	KRT1	c.1592G>A (p.Ser531Asn)
12	g.52675537T>A	CA384960702	KRT1	c.1591A>T (p.Ser531Cys)
12	g.52675537T>C	CA237261616	KRT1	c.1591A>G (p.Ser531Gly)	dbSNP
12	g.52675537T>G	CA384960697	KRT1	c.1591A>C (p.Ser531Arg)
12	g.52675537T=	CA2036619203	KRT1	c.1591A= (p.Ser531=)
12	g.52675538G>A	CA480073221	KRT1	c.1590C>T (p.Ser530=)
12	g.52675538G>C	CA384960706	KRT1	c.1590C>G (p.Ser530Arg)
12	g.52675538G>T	CA384960713	KRT1	c.1590C>A (p.Ser530Arg)	gnomAD v4
12	g.52675539_52675540insCACGGCCGCCGCCGCCGC	CA2618946392	KRT1	c.1590_1591insGGCGGCGGCGGCCGTGGC (p.Ser530_Ser531insGlyGlyGlyGlyArgGly)	gnomAD v4
12	g.52675538_52675544delinsGCTACCT	CA2036619204	KRT1	c.1584_1590delinsAGGTAGC (p.Gly528=)
12	g.52675539C>A	CA384960721	KRT1	c.1589G>T (p.Ser530Ile)
12	g.52675539C=	CA2036619205	KRT1	c.1589G= (p.Ser530=)
12	g.52675539C>G	CA384960724	KRT1	c.1589G>C (p.Ser530Thr)
12	g.52675539C>T	CA384960731	KRT1	c.1589G>A (p.Ser530Asn)	dbSNP gnomAD v2 gnomAD v4
12	g.52675540_52675545del	CA605241244	KRT1	c.1584_1589del (p.Gly529_Ser530del)	dbSNP gnomAD v2 gnomAD v4
12	g.52675540T>A	CA384960741	KRT1	c.1588A>T (p.Ser530Cys)
12	g.52675540T>C	CA237261622	KRT1	c.1588A>G (p.Ser530Gly)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.52675540T>G	CA384960757	KRT1	c.1588A>C (p.Ser530Arg)
12	g.52675540T=	CA2036619206	KRT1	c.1588A= (p.Ser530=)
12	g.52675541A>C	CA480073222	KRT1	c.1587T>G (p.Gly529=)
12	g.52675541A>G	CA480073223	KRT1	c.1587T>C (p.Gly529=)
12	g.52675541A>T	CA480073224	KRT1	c.1587T>A (p.Gly529=)
12	g.52675542C>A	CA384960764	KRT1	c.1586G>T (p.Gly529Val)
12	g.52675542C=	CA2036619207	KRT1	c.1586G= (p.Gly529=)
12	g.52675542C>G	CA384960768	KRT1	c.1586G>C (p.Gly529Ala)
12	g.52675542C>T	CA384960772	KRT1	c.1586G>A (p.Gly529Asp)	dbSNP
12	g.52675543C>A	CA384960780	KRT1	c.1585G>T (p.Gly529Cys)
12	g.52675543C>G	CA384960779	KRT1	c.1585G>C (p.Gly529Arg)
12	g.52675543C>T	CA384960778	KRT1	c.1585G>A (p.Gly529Ser)
12	g.52675543_52675547del	CA2618946393	KRT1	c.1581_1585del (p.Gly528Ter)	gnomAD v4
12	g.52675544T>A	CA480073225	KRT1	c.1584A>T (p.Gly528=)
12	g.52675544T>C	CA480073226	KRT1	c.1584A>G (p.Gly528=)
12	g.52675544T>G	CA480073227	KRT1	c.1584A>C (p.Gly528=)
12	g.52675545C>A	CA384960782	KRT1	c.1583G>T (p.Gly528Val)
12	g.52675545C>G	CA384960786	KRT1	c.1583G>C (p.Gly528Ala)
12	g.52675545C>T	CA384960789	KRT1	c.1583G>A (p.Gly528Glu)
12	g.52675546C>A	CA384960800	KRT1	c.1582G>T (p.Gly528Ter)
12	g.52675546C>G	CA384960805	KRT1	c.1582G>C (p.Gly528Arg)
12	g.52675546C>T	CA384960813	KRT1	c.1582G>A (p.Gly528Arg)	gnomAD v4
12	g.52675547A=	CA2036619208	KRT1	c.1581T= (p.Ser527=)
12	g.52675547A>C	CA480073228	KRT1	c.1581T>G (p.Ser527=)
12	g.52675547A>G	CA480073229	KRT1	c.1581T>C (p.Ser527=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675547A>T	CA480073230	KRT1	c.1581T>A (p.Ser527=)
12	g.52675548G>A	CA384960819	KRT1	c.1580C>T (p.Ser527Phe)
12	g.52675548G>C	CA384960815	KRT1	c.1580C>G (p.Ser527Cys)
12	g.52675548G=	CA2036619209	KRT1	c.1580C= (p.Ser527=)
12	g.52675548G>T	CA6586099	KRT1	c.1580C>A (p.Ser527Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675548_52675551del	CA605241245	KRT1	c.1577_1580del (p.Gly526ValfsTer?)	gnomAD v2 gnomAD v4
12	g.52675549del	CA2618946397	KRT1	c.1579del (p.Ser527LeufsTer?)	gnomAD v4
12	g.52675549A>C	CA384960830	KRT1	c.1579T>G (p.Ser527Ala)
12	g.52675549A>G	CA384960840	KRT1	c.1579T>C (p.Ser527Pro)	gnomAD v4
12	g.52675549A>T	CA384960843	KRT1	c.1579T>A (p.Ser527Thr)
12	g.52675550G>A	CA480073233	KRT1	c.1578C>T (p.Gly526=)	gnomAD v4
12	g.52675550G>C	CA480073232	KRT1	c.1578C>G (p.Gly526=)
12	g.52675550G>T	CA480073231	KRT1	c.1578C>A (p.Gly526=)
12	g.52675551C>A	CA6586100	KRT1	c.1577G>T (p.Gly526Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675551C=	CA2036619210	KRT1	c.1577G= (p.Gly526=)
12	g.52675551C>G	CA384960850	KRT1	c.1577G>C (p.Gly526Ala)
12	g.52675551C>T	CA384960851	KRT1	c.1577G>A (p.Gly526Asp)
12	g.52675552del	CA2580086465	KRT1	c.1577del (p.Gly526AlafsTer?)	ClinVar
12	g.52675552C>A	CA384960852	KRT1	c.1576G>T (p.Gly526Cys)
12	g.52675552C=	CA2036619211	KRT1	c.1576G= (p.Gly526=)
12	g.52675552C>G	CA384960854	KRT1	c.1576G>C (p.Gly526Arg)	gnomAD v4
12	g.52675552C>T	CA6586101	KRT1	c.1576G>A (p.Gly526Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675553G>A	CA6586102	KRT1	c.1575C>T (p.Tyr525=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675553G>C	CA384960877	KRT1	c.1575C>G (p.Tyr525Ter)
12	g.52675553G=	CA2036619212	KRT1	c.1575C= (p.Tyr525=)
12	g.52675553G>T	CA384960888	KRT1	c.1575C>A (p.Tyr525Ter)
12	g.52675554_52675556del	CA2618946398	KRT1	c.1573_1575del (p.Tyr525del)	gnomAD v4
12	g.52675554T>A	CA384960894	KRT1	c.1574A>T (p.Tyr525Phe)
12	g.52675554T>C	CA384960896	KRT1	c.1574A>G (p.Tyr525Cys)
12	g.52675554T>G	CA237261642	KRT1	c.1574A>C (p.Tyr525Ser)	dbSNP
12	g.52675554T=	CA2036619213	KRT1	c.1574A= (p.Tyr525=)
12	g.52675554_52675555del	CA605241246	KRT1	c.1573_1574del (p.Tyr525ArgfsTer5)	gnomAD v2 gnomAD v4
12	g.52675555A=	CA2036619214	KRT1	c.1573T= (p.Tyr525=)
12	g.52675555A>C	CA384960897	KRT1	c.1573T>G (p.Tyr525Asp)
12	g.52675555A>G	CA384960900	KRT1	c.1573T>C (p.Tyr525His)	dbSNP gnomAD v2 gnomAD v4
12	g.52675555A>T	CA384960904	KRT1	c.1573T>A (p.Tyr525Asn)
12	g.52675556G>A	CA480073234	KRT1	c.1572C>T (p.Gly524=)
12	g.52675556G>C	CA480073236	KRT1	c.1572C>G (p.Gly524=)
12	g.52675556G>T	CA480073235	KRT1	c.1572C>A (p.Gly524=)
12	g.52675559_52675564del	CA2618946399	KRT1	c.1567_1572del (p.Gly523_Gly524del)	gnomAD v4
12	g.52675562_52675585dup	CA689868827	KRT1	c.1549_1572dup (p.Gly524_Tyr525insSerArgGlyGlyGlyGlyGlyGly)	dbSNP
12	g.52675557C>A	CA384960905	KRT1	c.1571G>T (p.Gly524Val)
12	g.52675557C=	CA2036619215	KRT1	c.1571G= (p.Gly524=)
12	g.52675557C>G	CA237261644	KRT1	c.1571G>C (p.Gly524Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.52675557C>T	CA384960906	KRT1	c.1571G>A (p.Gly524Asp)	gnomAD v4
12	g.52675558C>A	CA384960910	KRT1	c.1570G>T (p.Gly524Cys)
12	g.52675558C=	CA2036619216	KRT1	c.1570G= (p.Gly524=)
12	g.52675558C>G	CA384960917	KRT1	c.1570G>C (p.Gly524Arg)
12	g.52675558C>T	CA384960913	KRT1	c.1570G>A (p.Gly524Ser)	dbSNP gnomAD v4
12	g.52675559A=	CA2036619217	KRT1	c.1569T= (p.Gly523=)
12	g.52675559A>C	CA480073237	KRT1	c.1569T>G (p.Gly523=)	gnomAD v4
12	g.52675559A>G	CA480073238	KRT1	c.1569T>C (p.Gly523=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.52675559A>T	CA480073239	KRT1	c.1569T>A (p.Gly523=)
12	g.52675559_52675562delinsACCG	CA2036619218	KRT1	c.1566_1569delinsCGGT (p.Gly522=)
12	g.52675560C>A	CA384960922	KRT1	c.1568G>T (p.Gly523Val)	dbSNP gnomAD v3 gnomAD v4
12	g.52675560C=	CA2036619220	KRT1	c.1568G= (p.Gly523=)
12	g.52675560C>G	CA384960923	KRT1	c.1568G>C (p.Gly523Ala)
12	g.52675560C>T	CA384960924	KRT1	c.1568G>A (p.Gly523Asp)	gnomAD v4
12	g.52675565_52675567del	CA2036619219	KRT1	c.1566_1568del (p.Gly523del)	dbSNP
12	g.52675561C>A	CA384960926	KRT1	c.1567G>T (p.Gly523Cys)	gnomAD v4
12	g.52675561C=	CA2036619221	KRT1	c.1567G= (p.Gly523=)
12	g.52675561C>G	CA6586104	KRT1	c.1567G>C (p.Gly523Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675561C>T	CA6586103	KRT1	c.1567G>A (p.Gly523Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52675562G>A	CA480073240	KRT1	c.1566C>T (p.Gly522=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52675562G>C	CA480073241	KRT1	c.1566C>G (p.Gly522=)	dbSNP gnomAD v3 gnomAD v4
12	g.52675562G=	CA2036619222	KRT1	c.1566C= (p.Gly522=)
12	g.52675562G>T	CA480073242	KRT1	c.1566C>A (p.Gly522=)

Number of alleles fetched