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.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.48755606_48755621delinsTGGCAGCGGCGGCTGC	CA1248636778	LHCGR,STON1-GTF2A1L	c.51_66delinsGCAGCCGCCGCTGCCA (p.Leu17=) c.3442-20674_3442-20659delinsTGGCAGCGGCGGCTGC (n.3442-20674_3442-20659delinsTGGCAGCGGCGGCTGC)
2	g.48755607_48755621del	CA1030381818	LHCGR,STON1-GTF2A1L	c.51_65del (p.Gln18_Pro22del) c.3442-20673_3442-20659del (n.3442-20673_3442-20659del)	dbSNP gnomAD v3 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.48755616_48755618del	CA2658995091	LHCGR,STON1-GTF2A1L	c.59_61del (p.Pro20del) c.3442-20664_3442-20662del (n.3442-20664_3442-20662del)	gnomAD v4
2	g.48755613_48755621dup	CA2658995090	LHCGR,STON1-GTF2A1L	c.53_61dup (p.Pro20_Leu21insGlnProPro) c.3442-20667_3442-20659dup (n.3442-20667_3442-20659dup)	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.48755616G>A	CA47295574	LHCGR,STON1-GTF2A1L	c.56C>T (p.Pro19Leu) c.3442-20664G>A (n.3442-20664G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.48755616G>C	CA346815602	LHCGR,STON1-GTF2A1L	c.56C>G (p.Pro19Arg) c.3442-20664G>C (n.3442-20664G>C)
2	g.48755616G=	CA1248636785	LHCGR,STON1-GTF2A1L	c.56C= (p.Pro19=) c.3442-20664G= (n.3442-20664G=)
2	g.48755616G>T	CA346815601	LHCGR,STON1-GTF2A1L	c.56C>A (p.Pro19Gln) c.3442-20664G>T (n.3442-20664G>T)	dbSNP gnomAD v2 gnomAD v4
2	g.48755616_48755617del	CA2658995095	LHCGR,STON1-GTF2A1L	c.55_56del (p.Pro19AlafsTer13) c.3442-20664_3442-20663del (n.3442-20664_3442-20663del)	gnomAD v4
2	g.48755616_48755622delinsGGCTGCA	CA2742038435	LHCGR,STON1-GTF2A1L	c.50_56delinsTGCAGCC (p.Leu17=) c.3442-20664_3442-20658delinsGGCTGCA (n.3442-20664_3442-20658delinsGGCTGCA)
2	g.48755616_48755617insACTGCA	CA2658995100	LHCGR,STON1-GTF2A1L	c.55_56insTGCAGT (p.Pro19delinsLeuGlnSer) c.3442-20664_3442-20663insACTGCA (n.3442-20664_3442-20663insACTGCA)	gnomAD v4
2	g.48755617G>A	CA346815603	LHCGR,STON1-GTF2A1L	c.55C>T (p.Pro19Ser) c.3442-20663G>A (n.3442-20663G>A)	COSMIC
2	g.48755617G>C	CA346815604	LHCGR,STON1-GTF2A1L	c.55C>G (p.Pro19Ala) c.3442-20663G>C (n.3442-20663G>C)	gnomAD v4
2	g.48755617G=	CA1248636786	LHCGR,STON1-GTF2A1L	c.55C= (p.Pro19=) c.3442-20663G= (n.3442-20663G=)
2	g.48755617G>T	CA346815605	LHCGR,STON1-GTF2A1L	c.55C>A (p.Pro19Thr) c.3442-20663G>T (n.3442-20663G>T)	gnomAD v4
2	g.48755617_48755618insATGCAG	CA2749837903	LHCGR,STON1-GTF2A1L	c.55_56insTGCATC (p.Gln18_Pro19insLeuHis) c.3442-20663_3442-20662insATGCAG (n.3442-20663_3442-20662insATGCAG)
2	g.48755618_48755619insGGCAGC	CA2586969547	LHCGR,STON1-GTF2A1L	c.55_56insTGCCGC (p.Gln18_Pro19insLeuPro) c.3442-20662_3442-20661insGGCAGC (n.3442-20662_3442-20661insGGCAGC)
2	g.48755621_48755622insGGCTGCAGCTGC	CA769618265	LHCGR,STON1-GTF2A1L	c.55_56insTGCAGCCGCAGC (p.Gln18_Pro19insLeuGlnProGln) c.3442-20659_3442-20658insGGCTGCAGCTGC (n.3442-20659_3442-20658insGGCTGCAGCTGC)	dbSNP gnomAD v4
2	g.48755624_48755625insTGCAGCGGCGGCTGCAGCTGCAGC	CA769618269	LHCGR,STON1-GTF2A1L	c.55_56insTGCAGCCGCCGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCGGCGGCTGCAGCTGCAGC)	dbSNP gnomAD v4
2	g.48755624_48755625insTGCAGCAGCAGCGGCTGCAGCTGCAGC	CA1030381844	LHCGR,STON1-GTF2A1L	c.55_56insTGCAGCCGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCGGCTGCAGCTGCAGC)	dbSNP gnomAD v3 gnomAD v4
2	g.48755624_48755625insTGCAGCAGCGGCGGCTGCAGCTGCAGC	CA2658995096	LHCGR,STON1-GTF2A1L	c.55_56insTGCAGCCGCCGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCGGCGGCTGCAGCTGCAGC)	gnomAD v4
2	g.48755624_48755625insTGCAGCAGCAGCAGCGGCTGCAGCTGCAGC	CA2749837902	LHCGR,STON1-GTF2A1L	c.55_56insTGCAGCCGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCGGCTGCAGCTGCAGC)
2	g.48755624_48755625insTGCAGCAGCAGCGGCGGCTGCAGCTGCAGC	CA1653492	LHCGR,STON1-GTF2A1L	c.55_56insTGCAGCCGCCGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCGGCGGCTGCAGCTGCAGC)	dbSNP ExAC gnomAD v3 gnomAD v4
2	g.48755624_48755625insTGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC	CA532559292	LHCGR,STON1-GTF2A1L	c.55_56insTGCAGCCGCCGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC	CA532559293	LHCGR,STON1-GTF2A1L	c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755624_48755625insTGCAGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC	CA2658995099	LHCGR,STON1-GTF2A1L	c.55_56insTGCAGCCGCCGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC)	gnomAD v4
2	g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGTAGCTGCAGC	CA2658995098	LHCGR,STON1-GTF2A1L	c.55_56insTACAGCTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGTAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGTAGCTGCAGC)	gnomAD v4
2	g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC	CA2658995097	LHCGR,STON1-GTF2A1L	c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC)	gnomAD v4
2	g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC	CA1030381847	LHCGR,STON1-GTF2A1L	c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC)	dbSNP gnomAD v3 gnomAD v4
2	g.48755619_48755624dup	CA1653491	LHCGR,STON1-GTF2A1L	c.50_55dup (p.Gln18_Pro19insLeuGln) c.3442-20661_3442-20656dup (n.3442-20661_3442-20656dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.48755619_48755624del	CA2699074169	LHCGR,STON1-GTF2A1L	c.50_55del (p.Leu17_Gln18del) c.3442-20661_3442-20656del (n.3442-20661_3442-20656del)	dbSNP
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.48755617_48755618insGCTGCA	CA47295575	LHCGR,STON1-GTF2A1L	c.54_55insTGCAGC (p.Gln18_Pro19insCysSer) c.3442-20663_3442-20662insGCTGCA (n.3442-20663_3442-20662insGCTGCA)	dbSNP
2	g.48755618C>A	CA346815606	LHCGR,STON1-GTF2A1L	c.54G>T (p.Gln18His) c.3442-20662C>A (n.3442-20662C>A)	gnomAD v4
2	g.48755618C=	CA1248636788	LHCGR,STON1-GTF2A1L	c.54G= (p.Gln18=) c.3442-20662C= (n.3442-20662C=)
2	g.48755618C>G	CA346815607	LHCGR,STON1-GTF2A1L	c.54G>C (p.Gln18His) c.3442-20662C>G (n.3442-20662C>G)	dbSNP
2	g.48755618C>T	CA1653493	LHCGR,STON1-GTF2A1L	c.54G>A (p.Gln18=) c.3442-20662C>T (n.3442-20662C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched