Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.48755606_48755655del	CA2740272290	LHCGR,STON1-GTF2A1L	c.19_68del (p.Ala7SerfsTer9) c.3442-20674_3442-20625del (n.3442-20674_3442-20625del)
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)	ClinVar 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.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)	ClinVar 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.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
2	g.48755638_48755646dup	CA1653499	LHCGR,STON1-GTF2A1L	c.34_42dup (p.Leu14_Leu15insLysLeuLeu) c.3442-20642_3442-20634dup (n.3442-20642_3442-20634dup)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.48755631A>C	CA346815628	LHCGR,STON1-GTF2A1L	c.41T>G (p.Leu14Arg) c.3442-20649A>C (n.3442-20649A>C)
2	g.48755631A>G	CA346815629	LHCGR,STON1-GTF2A1L	c.41T>C (p.Leu14Pro) c.3442-20649A>G (n.3442-20649A>G)
2	g.48755631A>T	CA346815630	LHCGR,STON1-GTF2A1L	c.41T>A (p.Leu14Gln) c.3442-20649A>T (n.3442-20649A>T)
2	g.48755632_48755633insAAG	CA532559296	LHCGR,STON1-GTF2A1L	c.41_42insTCT (p.Leu14_Leu15insLeu) c.3442-20648_3442-20647insAAG (n.3442-20648_3442-20647insAAG)	dbSNP gnomAD v2 gnomAD v4
2	g.48755632G>A	CA426095236	LHCGR,STON1-GTF2A1L	c.40C>T (p.Leu14=) c.3442-20648G>A (n.3442-20648G>A)	dbSNP gnomAD v4
2	g.48755632G>C	CA346815632	LHCGR,STON1-GTF2A1L	c.40C>G (p.Leu14Val) c.3442-20648G>C (n.3442-20648G>C)
2	g.48755632G=	CA1248636801	LHCGR,STON1-GTF2A1L	c.40C= (p.Leu14=) c.3442-20648G= (n.3442-20648G=)
2	g.48755632G>T	CA346815631	LHCGR,STON1-GTF2A1L	c.40C>A (p.Leu14Met) c.3442-20648G>T (n.3442-20648G>T)
2	g.48755636_48755637insGGCGGCTGCAGC	CA2658995112	LHCGR,STON1-GTF2A1L	c.40_41insAGCCGCCGCTGC (p.Leu13_Leu14insGlnProProLeu) c.3442-20644_3442-20643insGGCGGCTGCAGC (n.3442-20644_3442-20643insGGCGGCTGCAGC)	gnomAD v4
2	g.48755637_48755651del	CA2576963767	LHCGR,STON1-GTF2A1L	c.26_40del (p.Gln9_Leu13del) c.3442-20643_3442-20629del (n.3442-20643_3442-20629del)
2	g.48755633C>A	CA426095238	LHCGR,STON1-GTF2A1L	c.39G>T (p.Leu13=) c.3442-20647C>A (n.3442-20647C>A)	gnomAD v4
2	g.48755633C=	CA1248636802	LHCGR,STON1-GTF2A1L	c.39G= (p.Leu13=) c.3442-20647C= (n.3442-20647C=)
2	g.48755633C>G	CA426095237	LHCGR,STON1-GTF2A1L	c.39G>C (p.Leu13=) c.3442-20647C>G (n.3442-20647C>G)
2	g.48755633C>T	CA426095239	LHCGR,STON1-GTF2A1L	c.39G>A (p.Leu13=) c.3442-20647C>T (n.3442-20647C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.48755634A>C	CA346815633	LHCGR,STON1-GTF2A1L	c.38T>G (p.Leu13Arg) c.3442-20646A>C (n.3442-20646A>C)
2	g.48755634A>G	CA346815635	LHCGR,STON1-GTF2A1L	c.38T>C (p.Leu13Pro) c.3442-20646A>G (n.3442-20646A>G)
2	g.48755634A>T	CA346815634	LHCGR,STON1-GTF2A1L	c.38T>A (p.Leu13Gln) c.3442-20646A>T (n.3442-20646A>T)
2	g.48755635_48755636insAAG	CA2658995113	LHCGR,STON1-GTF2A1L	c.38_39insTCT (p.Leu13_Leu14insLeu) c.3442-20645_3442-20644insAAG (n.3442-20645_3442-20644insAAG)	gnomAD v4
2	g.48755635_48755636insTAG	CA1030381877	LHCGR,STON1-GTF2A1L	c.38_39insACT (p.Leu13_Leu14insLeu) c.3442-20645_3442-20644insTAG (n.3442-20645_3442-20644insTAG)	gnomAD v3 gnomAD v4
2	g.48755635G>A	CA426095240	LHCGR,STON1-GTF2A1L	c.37C>T (p.Leu13=) c.3442-20645G>A (n.3442-20645G>A)

Number of alleles fetched