Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.52651824_52651842delinsCGCTGCCACCTCCAAAGCT	CA2036598282	KRT2	c.301_319delinsAGCTTTGGAGGTGGCAGCG (p.Ser101=)
12	g.52651831_52651848dup	CA2618946315	KRT2	c.301_318dup (p.Ser106_Gly107insSerPheGlyGlyGlySer)	gnomAD v4
12	g.52651831_52651848del	CA6585864	KRT2	c.301_318del (p.Ser101_Ser106del)	dbSNP ExAC gnomAD v4
12	g.52651831_52651849delinsACCTCCAAAGCTGCTGCCG	CA2036598300	KRT2	c.294_312delinsCGGCAGCAGCTTTGGAGGT (p.Gly98=)
12	g.52651840_52651857dup	CA2618946321	KRT2	c.294_311dup (p.Gly104_Gly105insGlySerSerPheGlyGly)	gnomAD v4
12	g.52651840_52651857del	CA605241198	KRT2	c.294_311del (p.Gly99_Gly104del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52651841_52651842delinsCT	CA2036598321	KRT2	c.301_302delinsAG (p.Ser101=)
12	g.52651842T>A	CA384943869	KRT2	c.301A>T (p.Ser101Cys)
12	g.52651842T>C	CA6585888	KRT2	c.301A>G (p.Ser101Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52651842T>G	CA384943875	KRT2	c.301A>C (p.Ser101Arg)
12	g.52651842T=	CA2036598326	KRT2	c.301A= (p.Ser101=)
12	g.52651842delinsCGCTGCCGCCTCCAAAGCC	CA10641920	KRT2	c.301delinsGGCTTTGGAGGCGGCAGCG (p.Ser101delinsGlyPheGlyGlyGlySerGly)	ClinVar dbSNP
12	g.52651842_52651843insCCAAAGCC	CA6585893	KRT2	c.300_301insGGCTTTGG (p.Ser101GlyfsTer?)	dbSNP ExAC
12	g.52651842_52651843insTCCGCCTCCAAAGCC	CA2726057178	KRT2	c.300_301insGGCTTTGGAGGCGGA (p.Ser100_Ser101insGlyPheGlyGlyGly)	dbSNP
12	g.52651842_52651843insCTGCCGCCTCCAAAGCC	CA2618946339	KRT2	c.300_301insGGCTTTGGAGGCGGCAG (p.Ser101GlyfsTer?)	gnomAD v4
12	g.52651843G>A	CA6585895	KRT2	c.300C>T (p.Ser100=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.52651843G>C	CA384943886	KRT2	c.300C>G (p.Ser100Arg)
12	g.52651843G=	CA2036598332	KRT2	c.300C= (p.Ser100=)
12	g.52651843G>T	CA384943883	KRT2	c.300C>A (p.Ser100Arg)
12	g.52651843_52651844insTCGCCTCCAAAGCCG	CA2618946327	KRT2	c.300_301insGGCTTTGGAGGCGAC (p.Ser100_Ser101insGlyPheGlyGlyAsp)	gnomAD v4
12	g.52651844_52651845insAGCCTCCAAAGCCGC	CA2618946338	KRT2	c.300_301insGGCTTTGGAGGCTGC (p.Ser100_Ser101insGlyPheGlyGlyCys)	gnomAD v4
12	g.52651844_52651845insCACCTCCAAAGCCGC	CA6585891	KRT2	c.300_301insGGCTTTGGAGGTGGC (p.Ser100_Ser101insGlyPheGlyGlyGly)	dbSNP ExAC gnomAD v4
12	g.52651844_52651845insCGCCCCCAAAGCCGC	CA2618946336	KRT2	c.300_301insGGCTTTGGGGGCGGC (p.Ser100_Ser101insGlyPheGlyGlyGly)	gnomAD v4
12	g.52651844_52651845insCGCCTACAAAGCCGC	CA2618946335	KRT2	c.300_301insGGCTTTGTAGGCGGC (p.Ser100_Ser101insGlyPheValGlyGly)	gnomAD v4
12	g.52651844_52651845insCGCCTCCAAAGCCGC	CA6585889	KRT2	c.300_301insGGCTTTGGAGGCGGC (p.Ser100_Ser101insGlyPheGlyGlyGly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52651844_52651845insCGCCTCCAAAGTCGC	CA6585892	KRT2	c.300_301insGACTTTGGAGGCGGC (p.Ser100_Ser101insAspPheGlyGlyGly)	dbSNP ExAC gnomAD v4
12	g.52651844_52651845insCGCCTCCAAGGCCGC	CA2618946331	KRT2	c.300_301insGGCCTTGGAGGCGGC (p.Ser100_Ser101insGlyLeuGlyGlyGly)	gnomAD v4
12	g.52651844_52651845insCGCCTTCAAAGCCGC	CA2618946330	KRT2	c.300_301insGGCTTTGAAGGCGGC (p.Ser100_Ser101insGlyPheGluGlyGly)	gnomAD v4
12	g.52651844_52651845insCTCCTCCAAAGCCGC	CA2618946329	KRT2	c.300_301insGGCTTTGGAGGAGGC (p.Ser100_Ser101insGlyPheGlyGlyGly)	gnomAD v4
12	g.52651844_52651845insCGCCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC	CA2618946332	KRT2	c.300_301insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGCGGC (p.Ser100_Ser101insGlyPheGlyGlyGlySerGlyPheGlyGlyGly)	gnomAD v4
12	g.52651844_52651845insCGCCTCCAAAGCCGCTGCCGCCTCCAAAACCGC	CA2618946333	KRT2	c.300_301insGGTTTTGGAGGCGGCAGCGGCTTTGGAGGCGGC (p.Ser100_Ser101insGlyPheGlyGlyGlySerGlyPheGlyGlyGly)	gnomAD v4
12	g.52651844_52651845insCACCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC	CA2618946337	KRT2	c.300_301insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGTGGC (p.Ser100_Ser101insGlyPheGlyGlyGlySerGlyPheGlyGlyGly)	gnomAD v4
12	g.52651844_52651845insCGCCTCCAAAGCCGCTGCCGCCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC	CA2618946326	KRT2	c.300_301insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGCGGCAGCGGCTTTGGAGGCGGC (p.Ser100_Ser101insGlyPheGlyGlyGlySerGlyPheGlyGlyGlySerGlyPheGlyGlyGly)	gnomAD v4
12	g.52651848_52651849insTCCAAAGCCGCTGCC	CA2618946328	KRT2	c.300_301insGGCTTTGGAGGCAGC (p.Ser100_Ser101insGlyPheGlyGlySer)	dbSNP gnomAD v4
12	g.52651857_52651858insGCCGCTGCCGCCTCCAAA	CA6585890	KRT2	c.300_301insGGCTTTGGAGGCGGCAGC (p.Ser100_Ser101insGlyPheGlyGlyGlySer)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
12	g.52651843_52651860dup	CA947726047	KRT2	c.283_300dup (p.Ser100_Ser101insGlyPheGlyGlyGlySer)	dbSNP gnomAD v3 gnomAD v4
12	g.52651844C>A	CA384943915	KRT2	c.299G>T (p.Ser100Ile)
12	g.52651844C>G	CA384943912	KRT2	c.299G>C (p.Ser100Thr)
12	g.52651844C>T	CA384943907	KRT2	c.299G>A (p.Ser100Asn)	gnomAD v4
12	g.52651844_52651845insCGCCTCCAAAGCCAC	CA6585894	KRT2	c.299_300insTGGCTTTGGAGGCGG (p.Ser100_Ser101insGlyPheGlyGlyGly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52651844_52651845insCGCCTCCAAAGCCCC	CA2618946342	KRT2	c.299_300insGGGCTTTGGAGGCGG (p.Ser100delinsArgGlyPheGlyGlyGly)	gnomAD v4
12	g.52651857_52651858insGCCACTGCCGCCTCCAAA	CA689873272	KRT2	c.299_300insTGGCTTTGGAGGCGGCAG (p.Ser100_Ser101insGlyPheGlyGlyGlySer)	dbSNP
12	g.52651844_52651845insCGCCTCCAAAGCCGG	CA2618946343	KRT2	c.298_299insCCGGCTTTGGAGGCG (p.Ser100delinsThrGlyPheGlyGlyGly)	gnomAD v4
12	g.52651845T>A	CA384943922	KRT2	c.298A>T (p.Ser100Cys)
12	g.52651845T>C	CA384943923	KRT2	c.298A>G (p.Ser100Gly)
12	g.52651845T>G	CA384943924	KRT2	c.298A>C (p.Ser100Arg)
12	g.52651846G>A	CA480072855	KRT2	c.297C>T (p.Gly99=)
12	g.52651846G>C	CA480072856	KRT2	c.297C>G (p.Gly99=)
12	g.52651846G>T	CA480072857	KRT2	c.297C>A (p.Gly99=)
12	g.52651857_52651858insGCCGCGGCCGCCTCCAAA	CA2618946344	KRT2	c.297_298insCGCGGCTTTGGAGGCGGC (p.Gly99_Ser100insArgGlyPheGlyGlyGly)	gnomAD v4

Number of alleles fetched