Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.48755606_48755626dup	CA2658995088	LHCGR,STON1-GTF2A1L	c.47_67dup (p.Pro22_Arg23insLeuLeuGlnProProLeuPro) c.3442-20674_3442-20654dup (n.3442-20674_3442-20654dup)	gnomAD v4
2	g.48755613_48755633dup	CA2658995089	LHCGR,STON1-GTF2A1L	c.44_64dup (p.Leu21_Pro22insLeuLeuLeuGlnProProLeu) c.3442-20667_3442-20647dup (n.3442-20667_3442-20647dup)	gnomAD v4
2	g.48755611_48755638delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT	CA1248636781	LHCGR,STON1-GTF2A1L	c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (p.Lys12=) c.3442-20669_3442-20642delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT (n.3442-20669_3442-20642delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT)
2	g.48755613_48755639dup	CA1248636782	LHCGR,STON1-GTF2A1L	c.34_60dup (p.Pro20_Leu21insLysLeuLeuLeuLeuLeuGlnProPro) c.3442-20667_3442-20641dup (n.3442-20667_3442-20641dup)	dbSNP gnomAD v4
2	g.48755613_48755639del	CA532559288	LHCGR,STON1-GTF2A1L	c.34_60del (p.Lys12_Pro20del) c.3442-20667_3442-20641del (n.3442-20667_3442-20641del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755613_48755631delinsGGCGGCTGCAGCAGCAGCA	CA1248636784	LHCGR,STON1-GTF2A1L	c.41_59delinsTGCTGCTGCTGCAGCCGCC (p.Leu14=) c.3442-20667_3442-20649delinsGGCGGCTGCAGCAGCAGCA (n.3442-20667_3442-20649delinsGGCGGCTGCAGCAGCAGCA)
2	g.48755616_48755633del	CA532559289	LHCGR,STON1-GTF2A1L	c.41_58del (p.Leu14_Pro19del) c.3442-20664_3442-20647del (n.3442-20664_3442-20647del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755616_48755642dup	CA532559291	LHCGR,STON1-GTF2A1L	c.32_58dup (p.Pro19_Pro20insLeuLysLeuLeuLeuLeuLeuGlnPro) c.3442-20664_3442-20638dup (n.3442-20664_3442-20638dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755616_48755642del	CA2658995093	LHCGR,STON1-GTF2A1L	c.32_58del (p.Leu11_Pro19del) c.3442-20664_3442-20638del (n.3442-20664_3442-20638del)	gnomAD v4
2	g.48755616_48755648dup	CA2658995092	LHCGR,STON1-GTF2A1L	c.26_58dup (p.Pro19_Pro20insGlnLeuLeuLysLeuLeuLeuLeuLeuGlnPro) c.3442-20664_3442-20632dup (n.3442-20664_3442-20632dup)	gnomAD v4
2	g.48755619_48755627dup	CA1248636787	LHCGR,STON1-GTF2A1L	c.47_55dup (p.Gln18_Pro19insLeuLeuGln) c.3442-20661_3442-20653dup (n.3442-20661_3442-20653dup)	dbSNP
2	g.48755625_48755651dup	CA1030381849	LHCGR,STON1-GTF2A1L	c.29_55dup (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGln) c.3442-20655_3442-20629dup (n.3442-20655_3442-20629dup)	dbSNP gnomAD v3 gnomAD v4
2	g.48755625_48755651del	CA2586969548	LHCGR,STON1-GTF2A1L	c.29_55del (p.Leu10_Gln18del) c.3442-20655_3442-20629del (n.3442-20655_3442-20629del)	gnomAD v4
2	g.48755619_48755640delinsTGCAGCAGCAGCAGCAGCTTCA	CA1248636791	LHCGR,STON1-GTF2A1L	c.32_53delinsTGAAGCTGCTGCTGCTGCTGCA (p.Leu11=) c.3442-20661_3442-20640delinsTGCAGCAGCAGCAGCAGCTTCA (n.3442-20661_3442-20640delinsTGCAGCAGCAGCAGCAGCTTCA)
2	g.48755634_48755636dup	CA1653495	LHCGR,STON1-GTF2A1L	c.50_52dup (p.Leu17_Gln18insLeu) c.3442-20646_3442-20644dup (n.3442-20646_3442-20644dup)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755631_48755636dup	CA532559294	LHCGR,STON1-GTF2A1L	c.47_52dup (p.Leu17_Gln18insLeuLeu) c.3442-20649_3442-20644dup (n.3442-20649_3442-20644dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755628_48755636dup	CA2658995104	LHCGR,STON1-GTF2A1L	c.44_52dup (p.Leu17_Gln18insLeuLeuLeu) c.3442-20652_3442-20644dup (n.3442-20652_3442-20644dup)	gnomAD v4
2	g.48755634_48755636del	CA1653494	LHCGR,STON1-GTF2A1L	c.50_52del (p.Leu17del) c.3442-20646_3442-20644del (n.3442-20646_3442-20644del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755625_48755636del	CA2658995101	LHCGR,STON1-GTF2A1L	c.41_52del (p.Leu14_Leu17del) c.3442-20655_3442-20644del (n.3442-20655_3442-20644del)	gnomAD v4
2	g.48755625_48755645del	CA1653496	LHCGR,STON1-GTF2A1L	c.32_52del (p.Leu11_Leu17del) c.3442-20655_3442-20635del (n.3442-20655_3442-20635del)	dbSNP ExAC gnomAD v4
2	g.48755628_48755645dup	CA769618304	LHCGR,STON1-GTF2A1L	c.34_51dup (p.Leu17_Gln18insLysLeuLeuLeuLeuLeu) c.3442-20652_3442-20635dup (n.3442-20652_3442-20635dup)	dbSNP gnomAD v3 gnomAD v4
2	g.48755628_48755645del	CA2573134942	LHCGR,STON1-GTF2A1L	c.34_51del (p.Lys12_Leu17del) c.3442-20652_3442-20635del (n.3442-20652_3442-20635del)	ClinVar dbSNP
2	g.48755628_48755651dup	CA2658995106	LHCGR,STON1-GTF2A1L	c.26_49dup (p.Leu16_Leu17insGlnLeuLeuLysLeuLeuLeuLeu) c.3442-20652_3442-20629dup (n.3442-20652_3442-20629dup)	gnomAD v4
2	g.48755631_48755645del	CA2576963766	LHCGR,STON1-GTF2A1L	c.34_48del (p.Lys12_Leu16del) c.3442-20649_3442-20635del (n.3442-20649_3442-20635del)
2	g.48755625A=	CA1248636797	LHCGR,STON1-GTF2A1L	c.47T= (p.Leu16=) c.3442-20655A= (n.3442-20655A=)
2	g.48755625A>C	CA346815619	LHCGR,STON1-GTF2A1L	c.47T>G (p.Leu16Arg) c.3442-20655A>C (n.3442-20655A>C)
2	g.48755625A>G	CA346815620	LHCGR,STON1-GTF2A1L	c.47T>C (p.Leu16Pro) c.3442-20655A>G (n.3442-20655A>G)
2	g.48755625A>T	CA1653498	LHCGR,STON1-GTF2A1L	c.47T>A (p.Leu16Gln) c.3442-20655A>T (n.3442-20655A>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755626G>A	CA426095228	LHCGR,STON1-GTF2A1L	c.46C>T (p.Leu16=) c.3442-20654G>A (n.3442-20654G>A)
2	g.48755626G>C	CA346815621	LHCGR,STON1-GTF2A1L	c.46C>G (p.Leu16Val) c.3442-20654G>C (n.3442-20654G>C)
2	g.48755626G>T	CA346815622	LHCGR,STON1-GTF2A1L	c.46C>A (p.Leu16Met) c.3442-20654G>T (n.3442-20654G>T)
2	g.48755627C>A	CA426095231	LHCGR,STON1-GTF2A1L	c.45G>T (p.Leu15=) c.3442-20653C>A (n.3442-20653C>A)
2	g.48755627C>G	CA426095229	LHCGR,STON1-GTF2A1L	c.45G>C (p.Leu15=) c.3442-20653C>G (n.3442-20653C>G)
2	g.48755627C>T	CA426095230	LHCGR,STON1-GTF2A1L	c.45G>A (p.Leu15=) c.3442-20653C>T (n.3442-20653C>T)
2	g.48755628_48755629insACA	CA2658995109	LHCGR,STON1-GTF2A1L	c.45_46insTTG (p.Leu15_Leu16insLeu) c.3442-20652_3442-20651insACA (n.3442-20652_3442-20651insACA)	gnomAD v4
2	g.48755628_48755629insTCA	CA2658995110	LHCGR,STON1-GTF2A1L	c.45_46insATG (p.Leu15_Leu16insMet) c.3442-20652_3442-20651insTCA (n.3442-20652_3442-20651insTCA)	gnomAD v4
2	g.48755628A=	CA1248636798	LHCGR,STON1-GTF2A1L	c.44T= (p.Leu15=) c.3442-20652A= (n.3442-20652A=)
2	g.48755628A>C	CA346815623	LHCGR,STON1-GTF2A1L	c.44T>G (p.Leu15Arg) c.3442-20652A>C (n.3442-20652A>C)
2	g.48755628A>G	CA346815624	LHCGR,STON1-GTF2A1L	c.44T>C (p.Leu15Pro) c.3442-20652A>G (n.3442-20652A>G)
2	g.48755628A>T	CA346815625	LHCGR,STON1-GTF2A1L	c.44T>A (p.Leu15Gln) c.3442-20652A>T (n.3442-20652A>T)
2	g.48755629G>A	CA426095232	LHCGR,STON1-GTF2A1L	c.43C>T (p.Leu15=) c.3442-20651G>A (n.3442-20651G>A)
2	g.48755629G>C	CA346815626	LHCGR,STON1-GTF2A1L	c.43C>G (p.Leu15Val) c.3442-20651G>C (n.3442-20651G>C)
2	g.48755629G=	CA1248636799	LHCGR,STON1-GTF2A1L	c.43C= (p.Leu15=) c.3442-20651G= (n.3442-20651G=)
2	g.48755629G>T	CA346815627	LHCGR,STON1-GTF2A1L	c.43C>A (p.Leu15Met) c.3442-20651G>T (n.3442-20651G>T)
2	g.48755634_48755651dup	CA532559295	LHCGR,STON1-GTF2A1L	c.26_43dup (p.Leu14_Leu15insGlnLeuLeuLysLeuLeu) c.3442-20646_3442-20629dup (n.3442-20646_3442-20629dup)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755630C>A	CA426095235	LHCGR,STON1-GTF2A1L	c.42G>T (p.Leu14=) c.3442-20650C>A (n.3442-20650C>A)	gnomAD v4
2	g.48755630C=	CA1248636800	LHCGR,STON1-GTF2A1L	c.42G= (p.Leu14=) c.3442-20650C= (n.3442-20650C=)
2	g.48755630C>G	CA426095233	LHCGR,STON1-GTF2A1L	c.42G>C (p.Leu14=) c.3442-20650C>G (n.3442-20650C>G)	gnomAD v4
2	g.48755630C>T	CA426095234	LHCGR,STON1-GTF2A1L	c.42G>A (p.Leu14=) c.3442-20650C>T (n.3442-20650C>T)
2	g.48755631_48755632insTCA	CA2658995111	LHCGR,STON1-GTF2A1L	c.42_43insATG (p.Leu14_Leu15insMet) c.3442-20649_3442-20648insTCA (n.3442-20649_3442-20648insTCA)	gnomAD v4

Number of alleles fetched