Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.48755575_48755590delinsGCTCAGGGCAGAGCGC	CA1248636758	LHCGR,STON1-GTF2A1L	c.82_97delinsGCGCTCTGCCCTGAGC (p.Ala28=) c.3442-20705_3442-20690delinsGCTCAGGGCAGAGCGC (n.3442-20705_3442-20690delinsGCTCAGGGCAGAGCGC)
2	g.48755579_48755593del	CA769618111	LHCGR,STON1-GTF2A1L	c.82_96del (p.Ala28_Glu32del) c.3442-20701_3442-20687del (n.3442-20701_3442-20687del)	dbSNP gnomAD v3 gnomAD v4
2	g.48755585_48755597delinsGAGCGCCTCGCGC	CA1248636765	LHCGR,STON1-GTF2A1L	c.75_87delinsGCGCGAGGCGCTC (p.Leu25=) c.3442-20695_3442-20683delinsGAGCGCCTCGCGC (n.3442-20695_3442-20683delinsGAGCGCCTCGCGC)
2	g.48755586A>C	CA346815545	LHCGR,STON1-GTF2A1L	c.86T>G (p.Leu29Arg) c.3442-20694A>C (n.3442-20694A>C)
2	g.48755586A>G	CA346815546	LHCGR,STON1-GTF2A1L	c.86T>C (p.Leu29Pro) c.3442-20694A>G (n.3442-20694A>G)
2	g.48755586A>T	CA346815547	LHCGR,STON1-GTF2A1L	c.86T>A (p.Leu29His) c.3442-20694A>T (n.3442-20694A>T)
2	g.48755591_48755602del	CA532559202	LHCGR,STON1-GTF2A1L	c.75_86del (p.Arg26_Leu29del) c.3442-20689_3442-20678del (n.3442-20689_3442-20678del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755587G>A	CA346815548	LHCGR,STON1-GTF2A1L	c.85C>T (p.Leu29Phe) c.3442-20693G>A (n.3442-20693G>A)	gnomAD v4
2	g.48755587G>C	CA346815549	LHCGR,STON1-GTF2A1L	c.85C>G (p.Leu29Val) c.3442-20693G>C (n.3442-20693G>C)
2	g.48755587G>T	CA346815550	LHCGR,STON1-GTF2A1L	c.85C>A (p.Leu29Ile) c.3442-20693G>T (n.3442-20693G>T)	gnomAD v4
2	g.48755588C>A	CA426095192	LHCGR,STON1-GTF2A1L	c.84G>T (p.Ala28=) c.3442-20692C>A (n.3442-20692C>A)	gnomAD v4
2	g.48755588C>G	CA426095193	LHCGR,STON1-GTF2A1L	c.84G>C (p.Ala28=) c.3442-20692C>G (n.3442-20692C>G)	gnomAD v4
2	g.48755588C>T	CA426095194	LHCGR,STON1-GTF2A1L	c.84G>A (p.Ala28=) c.3442-20692C>T (n.3442-20692C>T)	gnomAD v4
2	g.48755589G>A	CA346815551	LHCGR,STON1-GTF2A1L	c.83C>T (p.Ala28Val) c.3442-20691G>A (n.3442-20691G>A)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.48755589G>C	CA346815552	LHCGR,STON1-GTF2A1L	c.83C>G (p.Ala28Gly) c.3442-20691G>C (n.3442-20691G>C)	dbSNP gnomAD v4
2	g.48755589G=	CA1248636766	LHCGR,STON1-GTF2A1L	c.83C= (p.Ala28=) c.3442-20691G= (n.3442-20691G=)
2	g.48755589G>T	CA346815553	LHCGR,STON1-GTF2A1L	c.83C>A (p.Ala28Glu) c.3442-20691G>T (n.3442-20691G>T)	gnomAD v4
2	g.48755590C>A	CA346815554	LHCGR,STON1-GTF2A1L	c.82G>T (p.Ala28Ser) c.3442-20690C>A (n.3442-20690C>A)	gnomAD v4
2	g.48755590C>G	CA346815555	LHCGR,STON1-GTF2A1L	c.82G>C (p.Ala28Pro) c.3442-20690C>G (n.3442-20690C>G)
2	g.48755590C>T	CA346815556	LHCGR,STON1-GTF2A1L	c.82G>A (p.Ala28Thr) c.3442-20690C>T (n.3442-20690C>T)
2	g.48755591C>A	CA346815557	LHCGR,STON1-GTF2A1L	c.81G>T (p.Glu27Asp) c.3442-20689C>A (n.3442-20689C>A)	COSMIC
2	g.48755591C=	CA1248636767	LHCGR,STON1-GTF2A1L	c.81G= (p.Glu27=) c.3442-20689C= (n.3442-20689C=)
2	g.48755591C>G	CA346815558	LHCGR,STON1-GTF2A1L	c.81G>C (p.Glu27Asp) c.3442-20689C>G (n.3442-20689C>G)
2	g.48755591C>T	CA1653488	LHCGR,STON1-GTF2A1L	c.81G>A (p.Glu27=) c.3442-20689C>T (n.3442-20689C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755592T>A	CA346815559	LHCGR,STON1-GTF2A1L	c.80A>T (p.Glu27Val) c.3442-20688T>A (n.3442-20688T>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755592T>C	CA346815560	LHCGR,STON1-GTF2A1L	c.80A>G (p.Glu27Gly) c.3442-20688T>C (n.3442-20688T>C)	gnomAD v4
2	g.48755592T>G	CA346815561	LHCGR,STON1-GTF2A1L	c.80A>C (p.Glu27Ala) c.3442-20688T>G (n.3442-20688T>G)
2	g.48755592T=	CA1248636768	LHCGR,STON1-GTF2A1L	c.80A= (p.Glu27=) c.3442-20688T= (n.3442-20688T=)
2	g.48755593C>A	CA346815562	LHCGR,STON1-GTF2A1L	c.79G>T (p.Glu27Ter) c.3442-20687C>A (n.3442-20687C>A)
2	g.48755593C=	CA1248636769	LHCGR,STON1-GTF2A1L	c.79G= (p.Glu27=) c.3442-20687C= (n.3442-20687C=)
2	g.48755593C>G	CA346815563	LHCGR,STON1-GTF2A1L	c.79G>C (p.Glu27Gln) c.3442-20687C>G (n.3442-20687C>G)	dbSNP gnomAD v2 gnomAD v4
2	g.48755593C>T	CA47295571	LHCGR,STON1-GTF2A1L	c.79G>A (p.Glu27Lys) c.3442-20687C>T (n.3442-20687C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.48755594G>A	CA426095195	LHCGR,STON1-GTF2A1L	c.78C>T (p.Arg26=) c.3442-20686G>A (n.3442-20686G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.48755594G>C	CA426095196	LHCGR,STON1-GTF2A1L	c.78C>G (p.Arg26=) c.3442-20686G>C (n.3442-20686G>C)	dbSNP
2	g.48755594G=	CA1248636770	LHCGR,STON1-GTF2A1L	c.78C= (p.Arg26=) c.3442-20686G= (n.3442-20686G=)
2	g.48755594G>T	CA426095197	LHCGR,STON1-GTF2A1L	c.78C>A (p.Arg26=) c.3442-20686G>T (n.3442-20686G>T)	dbSNP gnomAD v2 gnomAD v4
2	g.48755595C>A	CA346815564	LHCGR,STON1-GTF2A1L	c.77G>T (p.Arg26Leu) c.3442-20685C>A (n.3442-20685C>A)	dbSNP gnomAD v4
2	g.48755595C=	CA1248636771	LHCGR,STON1-GTF2A1L	c.77G= (p.Arg26=) c.3442-20685C= (n.3442-20685C=)
2	g.48755595C>G	CA346815565	LHCGR,STON1-GTF2A1L	c.77G>C (p.Arg26Pro) c.3442-20685C>G (n.3442-20685C>G)
2	g.48755595C>T	CA346815566	LHCGR,STON1-GTF2A1L	c.77G>A (p.Arg26His) c.3442-20685C>T (n.3442-20685C>T)	gnomAD v4
2	g.48755596G>A	CA346815567	LHCGR,STON1-GTF2A1L	c.76C>T (p.Arg26Cys) c.3442-20684G>A (n.3442-20684G>A)	gnomAD v4 COSMIC
2	g.48755596G>C	CA346815568	LHCGR,STON1-GTF2A1L	c.76C>G (p.Arg26Gly) c.3442-20684G>C (n.3442-20684G>C)	gnomAD v4
2	g.48755596G=	CA1248636772	LHCGR,STON1-GTF2A1L	c.76C= (p.Arg26=) c.3442-20684G= (n.3442-20684G=)
2	g.48755596G>T	CA346815569	LHCGR,STON1-GTF2A1L	c.76C>A (p.Arg26Ser) c.3442-20684G>T (n.3442-20684G>T)	dbSNP gnomAD v4
2	g.48755597C>A	CA426095198	LHCGR,STON1-GTF2A1L	c.75G>T (p.Leu25=) c.3442-20683C>A (n.3442-20683C>A)	gnomAD v4
2	g.48755597C>G	CA426095200	LHCGR,STON1-GTF2A1L	c.75G>C (p.Leu25=) c.3442-20683C>G (n.3442-20683C>G)
2	g.48755597C>T	CA426095199	LHCGR,STON1-GTF2A1L	c.75G>A (p.Leu25=) c.3442-20683C>T (n.3442-20683C>T)
2	g.48755598del	CA2576963765	LHCGR,STON1-GTF2A1L	c.74del (p.Leu25ArgfsTer?) c.3442-20682del (n.3442-20682del)
2	g.48755598A=	CA1248636773	LHCGR,STON1-GTF2A1L	c.74T= (p.Leu25=) c.3442-20682A= (n.3442-20682A=)
2	g.48755598A>C	CA47295572	LHCGR,STON1-GTF2A1L	c.74T>G (p.Leu25Arg) c.3442-20682A>C (n.3442-20682A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.48755598A>G	CA346815570	LHCGR,STON1-GTF2A1L	c.74T>C (p.Leu25Pro) c.3442-20682A>G (n.3442-20682A>G)	dbSNP gnomAD v4
2	g.48755598A>T	CA346815571	LHCGR,STON1-GTF2A1L	c.74T>A (p.Leu25Gln) c.3442-20682A>T (n.3442-20682A>T)
2	g.48755599G>A	CA426095201	LHCGR,STON1-GTF2A1L	c.73C>T (p.Leu25=) c.3442-20681G>A (n.3442-20681G>A)
2	g.48755599G>C	CA346815572	LHCGR,STON1-GTF2A1L	c.73C>G (p.Leu25Val) c.3442-20681G>C (n.3442-20681G>C)
2	g.48755599G>T	CA346815573	LHCGR,STON1-GTF2A1L	c.73C>A (p.Leu25Met) c.3442-20681G>T (n.3442-20681G>T)	gnomAD v4
2	g.48755600C>A	CA426095202	LHCGR,STON1-GTF2A1L	c.72G>T (p.Ala24=) c.3442-20680C>A (n.3442-20680C>A)	gnomAD v4
2	g.48755600C>G	CA426095203	LHCGR,STON1-GTF2A1L	c.72G>C (p.Ala24=) c.3442-20680C>G (n.3442-20680C>G)
2	g.48755600C>T	CA426095204	LHCGR,STON1-GTF2A1L	c.72G>A (p.Ala24=) c.3442-20680C>T (n.3442-20680C>T)	gnomAD v4
2	g.48755601G>A	CA346815574	LHCGR,STON1-GTF2A1L	c.71C>T (p.Ala24Val) c.3442-20679G>A (n.3442-20679G>A)	gnomAD v4
2	g.48755601G>C	CA346815575	LHCGR,STON1-GTF2A1L	c.71C>G (p.Ala24Gly) c.3442-20679G>C (n.3442-20679G>C)	gnomAD v4
2	g.48755601G>T	CA346815576	LHCGR,STON1-GTF2A1L	c.71C>A (p.Ala24Glu) c.3442-20679G>T (n.3442-20679G>T)	gnomAD v4
2	g.48755602C>A	CA346815577	LHCGR,STON1-GTF2A1L	c.70G>T (p.Ala24Ser) c.3442-20678C>A (n.3442-20678C>A)	dbSNP gnomAD v2 gnomAD v4
2	g.48755602C=	CA1248636774	LHCGR,STON1-GTF2A1L	c.70G= (p.Ala24=) c.3442-20678C= (n.3442-20678C=)
2	g.48755602C>G	CA346815578	LHCGR,STON1-GTF2A1L	c.70G>C (p.Ala24Pro) c.3442-20678C>G (n.3442-20678C>G)
2	g.48755602C>T	CA346815579	LHCGR,STON1-GTF2A1L	c.70G>A (p.Ala24Thr) c.3442-20678C>T (n.3442-20678C>T)	gnomAD v4
2	g.48755603T>A	CA426095205	LHCGR,STON1-GTF2A1L	c.69A>T (p.Arg23=) c.3442-20677T>A (n.3442-20677T>A)	gnomAD v4
2	g.48755603T>C	CA1653489	LHCGR,STON1-GTF2A1L	c.69A>G (p.Arg23=) c.3442-20677T>C (n.3442-20677T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.48755603T>G	CA426095206	LHCGR,STON1-GTF2A1L	c.69A>C (p.Arg23=) c.3442-20677T>G (n.3442-20677T>G)
2	g.48755603T=	CA1248636775	LHCGR,STON1-GTF2A1L	c.69A= (p.Arg23=) c.3442-20677T= (n.3442-20677T=)
2	g.48755604C>A	CA346815580	LHCGR,STON1-GTF2A1L	c.68G>T (p.Arg23Leu) c.3442-20676C>A (n.3442-20676C>A)	gnomAD v4
2	g.48755604C>G	CA346815581	LHCGR,STON1-GTF2A1L	c.68G>C (p.Arg23Pro) c.3442-20676C>G (n.3442-20676C>G)	gnomAD v4
2	g.48755604C>T	CA346815582	LHCGR,STON1-GTF2A1L	c.68G>A (p.Arg23Gln) c.3442-20676C>T (n.3442-20676C>T)	gnomAD v4
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.48755605G>A	CA346815583	LHCGR,STON1-GTF2A1L	c.67C>T (p.Arg23Ter) c.3442-20675G>A (n.3442-20675G>A)	gnomAD v4
2	g.48755605G>C	CA47295573	LHCGR,STON1-GTF2A1L	c.67C>G (p.Arg23Gly) c.3442-20675G>C (n.3442-20675G>C)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.48755605G=	CA1248636776	LHCGR,STON1-GTF2A1L	c.67C= (p.Arg23=) c.3442-20675G= (n.3442-20675G=)
2	g.48755605G>T	CA426095207	LHCGR,STON1-GTF2A1L	c.67C>A (p.Arg23=) c.3442-20675G>T (n.3442-20675G>T)	gnomAD v4
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.48755606T>A	CA426095210	LHCGR,STON1-GTF2A1L	c.66A>T (p.Pro22=) c.3442-20674T>A (n.3442-20674T>A)
2	g.48755606T>C	CA426095209	LHCGR,STON1-GTF2A1L	c.66A>G (p.Pro22=) c.3442-20674T>C (n.3442-20674T>C)	dbSNP
2	g.48755606T>G	CA426095208	LHCGR,STON1-GTF2A1L	c.66A>C (p.Pro22=) c.3442-20674T>G (n.3442-20674T>G)
2	g.48755606T=	CA1248636777	LHCGR,STON1-GTF2A1L	c.66A= (p.Pro22=) c.3442-20674T= (n.3442-20674T=)
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.48755607G>A	CA346815584	LHCGR,STON1-GTF2A1L	c.65C>T (p.Pro22Leu) c.3442-20673G>A (n.3442-20673G>A)
2	g.48755607G>C	CA346815586	LHCGR,STON1-GTF2A1L	c.65C>G (p.Pro22Arg) c.3442-20673G>C (n.3442-20673G>C)	gnomAD v4
2	g.48755607G>T	CA346815585	LHCGR,STON1-GTF2A1L	c.65C>A (p.Pro22Gln) c.3442-20673G>T (n.3442-20673G>T)	gnomAD v4
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.48755608G>A	CA346815587	LHCGR,STON1-GTF2A1L	c.64C>T (p.Pro22Ser) c.3442-20672G>A (n.3442-20672G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755608G>C	CA346815589	LHCGR,STON1-GTF2A1L	c.64C>G (p.Pro22Ala) c.3442-20672G>C (n.3442-20672G>C)
2	g.48755608G=	CA1248636779	LHCGR,STON1-GTF2A1L	c.64C= (p.Pro22=) c.3442-20672G= (n.3442-20672G=)
2	g.48755608G>T	CA346815588	LHCGR,STON1-GTF2A1L	c.64C>A (p.Pro22Thr) c.3442-20672G>T (n.3442-20672G>T)	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.48755609C>A	CA426095211	LHCGR,STON1-GTF2A1L	c.63G>T (p.Leu21=) c.3442-20671C>A (n.3442-20671C>A)	gnomAD v4
2	g.48755609C=	CA1248636780	LHCGR,STON1-GTF2A1L	c.63G= (p.Leu21=) c.3442-20671C= (n.3442-20671C=)
2	g.48755609C>G	CA426095212	LHCGR,STON1-GTF2A1L	c.63G>C (p.Leu21=) c.3442-20671C>G (n.3442-20671C>G)	dbSNP gnomAD v2 gnomAD v4
2	g.48755609C>T	CA1653490	LHCGR,STON1-GTF2A1L	c.63G>A (p.Leu21=) c.3442-20671C>T (n.3442-20671C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755610A>C	CA346815590	LHCGR,STON1-GTF2A1L	c.62T>G (p.Leu21Arg) c.3442-20670A>C (n.3442-20670A>C)
2	g.48755610A>G	CA346815591	LHCGR,STON1-GTF2A1L	c.62T>C (p.Leu21Pro) c.3442-20670A>G (n.3442-20670A>G)
2	g.48755610A>T	CA346815592	LHCGR,STON1-GTF2A1L	c.62T>A (p.Leu21Gln) c.3442-20670A>T (n.3442-20670A>T)
2	g.48755611G>A	CA426095213	LHCGR,STON1-GTF2A1L	c.61C>T (p.Leu21=) c.3442-20669G>A (n.3442-20669G>A)
2	g.48755611G>C	CA346815593	LHCGR,STON1-GTF2A1L	c.61C>G (p.Leu21Val) c.3442-20669G>C (n.3442-20669G>C)
2	g.48755611G>T	CA346815594	LHCGR,STON1-GTF2A1L	c.61C>A (p.Leu21Met) c.3442-20669G>T (n.3442-20669G>T)
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.48755612C>A	CA426095214	LHCGR,STON1-GTF2A1L	c.60G>T (p.Pro20=) c.3442-20668C>A (n.3442-20668C>A)
2	g.48755612C>G	CA426095215	LHCGR,STON1-GTF2A1L	c.60G>C (p.Pro20=) c.3442-20668C>G (n.3442-20668C>G)
2	g.48755612C>T	CA426095216	LHCGR,STON1-GTF2A1L	c.60G>A (p.Pro20=) c.3442-20668C>T (n.3442-20668C>T)	gnomAD v4
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.48755613G>A	CA346815595	LHCGR,STON1-GTF2A1L	c.59C>T (p.Pro20Leu) c.3442-20667G>A (n.3442-20667G>A)	dbSNP gnomAD v4
2	g.48755613G>C	CA346815596	LHCGR,STON1-GTF2A1L	c.59C>G (p.Pro20Arg) c.3442-20667G>C (n.3442-20667G>C)
2	g.48755613G=	CA1248636783	LHCGR,STON1-GTF2A1L	c.59C= (p.Pro20=) c.3442-20667G= (n.3442-20667G=)
2	g.48755613G>T	CA346815597	LHCGR,STON1-GTF2A1L	c.59C>A (p.Pro20Gln) c.3442-20667G>T (n.3442-20667G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
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.48755613_48755614insACGGCT	CA532559290	LHCGR,STON1-GTF2A1L	c.58_59insAGCCGT (p.Pro20delinsGlnProSer) c.3442-20667_3442-20666insACGGCT (n.3442-20667_3442-20666insACGGCT)	dbSNP gnomAD v2 gnomAD v4
2	g.48755614G>A	CA346815598	LHCGR,STON1-GTF2A1L	c.58C>T (p.Pro20Ser) c.3442-20666G>A (n.3442-20666G>A)
2	g.48755614G>C	CA346815599	LHCGR,STON1-GTF2A1L	c.58C>G (p.Pro20Ala) c.3442-20666G>C (n.3442-20666G>C)
2	g.48755614G>T	CA346815600	LHCGR,STON1-GTF2A1L	c.58C>A (p.Pro20Thr) c.3442-20666G>T (n.3442-20666G>T)	gnomAD v4
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.48755615C>A	CA426095217	LHCGR,STON1-GTF2A1L	c.57G>T (p.Pro19=) c.3442-20665C>A (n.3442-20665C>A)
2	g.48755615C>G	CA426095218	LHCGR,STON1-GTF2A1L	c.57G>C (p.Pro19=) c.3442-20665C>G (n.3442-20665C>G)
2	g.48755615C>T	CA426095219	LHCGR,STON1-GTF2A1L	c.57G>A (p.Pro19=) c.3442-20665C>T (n.3442-20665C>T)	gnomAD v4
2	g.48755615_48755616insT	CA2658995094	LHCGR,STON1-GTF2A1L	c.56_57insA (p.Pro20AlafsTer13) c.3442-20665_3442-20664insT (n.3442-20665_3442-20664insT)	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
2	g.48755622_48755623insTCTGCA	CA769618283	LHCGR,STON1-GTF2A1L	c.54_55insATGCAG (p.Gln18_Pro19insMetGln) c.3442-20658_3442-20657insTCTGCA (n.3442-20658_3442-20657insTCTGCA)	dbSNP
2	g.48755619T>A	CA346815610	LHCGR,STON1-GTF2A1L	c.53A>T (p.Gln18Leu) c.3442-20661T>A (n.3442-20661T>A)	gnomAD v4
2	g.48755619T>C	CA346815609	LHCGR,STON1-GTF2A1L	c.53A>G (p.Gln18Arg) c.3442-20661T>C (n.3442-20661T>C)
2	g.48755619T>G	CA346815608	LHCGR,STON1-GTF2A1L	c.53A>C (p.Gln18Pro) c.3442-20661T>G (n.3442-20661T>G)
2	g.48755619T=	CA1248636789	LHCGR,STON1-GTF2A1L	c.53A= (p.Gln18=) c.3442-20661T= (n.3442-20661T=)
2	g.48755619_48755622delinsTGCA	CA1248636790	LHCGR,STON1-GTF2A1L	c.50_53delinsTGCA (p.Leu17=) c.3442-20661_3442-20658delinsTGCA (n.3442-20661_3442-20658delinsTGCA)
2	g.48755623_48755624insATGCAG	CA2699222466	LHCGR,STON1-GTF2A1L	c.53_54insTCTGCA (p.Leu17_Gln18insHisLeu) c.3442-20657_3442-20656insATGCAG (n.3442-20657_3442-20656insATGCAG)	dbSNP
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.48755619_48755620insTGCAGC	CA47295576	LHCGR,STON1-GTF2A1L	c.52_53insGCTGCA (p.Gln18delinsArgCysLys) c.3442-20661_3442-20660insTGCAGC (n.3442-20661_3442-20660insTGCAGC)	dbSNP
2	g.48755620G>A	CA346815613	LHCGR,STON1-GTF2A1L	c.52C>T (p.Gln18Ter) c.3442-20660G>A (n.3442-20660G>A)	gnomAD v4
2	g.48755620G>C	CA346815612	LHCGR,STON1-GTF2A1L	c.52C>G (p.Gln18Glu) c.3442-20660G>C (n.3442-20660G>C)
2	g.48755620G=	CA1248636792	LHCGR,STON1-GTF2A1L	c.52C= (p.Gln18=) c.3442-20660G= (n.3442-20660G=)
2	g.48755620G>T	CA346815611	LHCGR,STON1-GTF2A1L	c.52C>A (p.Gln18Lys) c.3442-20660G>T (n.3442-20660G>T)
2	g.48755624_48755625insGGCAGC	CA2658995103	LHCGR,STON1-GTF2A1L	c.52_53insCGCTGC (p.Leu17_Gln18insProLeu) c.3442-20656_3442-20655insGGCAGC (n.3442-20656_3442-20655insGGCAGC)	gnomAD v4
2	g.48755624_48755625insTGCAGCAGC	CA1248636793	LHCGR,STON1-GTF2A1L	c.52_53insTGCAGCTGC (p.Leu17_Gln18insLeuGlnLeu) c.3442-20656_3442-20655insTGCAGCAGC (n.3442-20656_3442-20655insTGCAGCAGC)	dbSNP gnomAD v4
2	g.48755624_48755625insTGCAGCAGCAGC	CA2658995105	LHCGR,STON1-GTF2A1L	c.52_53insTGCTGCAGCTGC (p.Leu17_Gln18insLeuLeuGlnLeu) c.3442-20656_3442-20655insTGCAGCAGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGC)	gnomAD v4
2	g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCAGCAGC	CA2658995102	LHCGR,STON1-GTF2A1L	c.52_53insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGC (p.Leu17_Gln18insLeuLeuLysLeuLeuLeuLeuLeuGlnLeu) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCAGC)	gnomAD v4
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.48755621C>A	CA426095222	LHCGR,STON1-GTF2A1L	c.51G>T (p.Leu17=) c.3442-20659C>A (n.3442-20659C>A)
2	g.48755621C>G	CA426095221	LHCGR,STON1-GTF2A1L	c.51G>C (p.Leu17=) c.3442-20659C>G (n.3442-20659C>G)
2	g.48755621C>T	CA426095220	LHCGR,STON1-GTF2A1L	c.51G>A (p.Leu17=) c.3442-20659C>T (n.3442-20659C>T)
2	g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGC	CA1030381871	LHCGR,STON1-GTF2A1L	c.51_52insAAGCTGCTGCTGCTGCTGCAGCTG (p.Leu17_Gln18insLysLeuLeuLeuLeuLeuGlnLeu) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGC)	dbSNP gnomAD v3 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.48755622A=	CA1248636794	LHCGR,STON1-GTF2A1L	c.50T= (p.Leu17=) c.3442-20658A= (n.3442-20658A=)
2	g.48755622A>C	CA346815614	LHCGR,STON1-GTF2A1L	c.50T>G (p.Leu17Arg) c.3442-20658A>C (n.3442-20658A>C)	dbSNP gnomAD v2 gnomAD v4
2	g.48755622A>G	CA346815615	LHCGR,STON1-GTF2A1L	c.50T>C (p.Leu17Pro) c.3442-20658A>G (n.3442-20658A>G)
2	g.48755622A>T	CA346815616	LHCGR,STON1-GTF2A1L	c.50T>A (p.Leu17Gln) c.3442-20658A>T (n.3442-20658A>T)	dbSNP gnomAD v4
2	g.48755623G>A	CA426095224	LHCGR,STON1-GTF2A1L	c.49C>T (p.Leu17=) c.3442-20657G>A (n.3442-20657G>A)	gnomAD v4
2	g.48755623G>C	CA346815617	LHCGR,STON1-GTF2A1L	c.49C>G (p.Leu17Val) c.3442-20657G>C (n.3442-20657G>C)	gnomAD v4
2	g.48755623G=	CA1248636795	LHCGR,STON1-GTF2A1L	c.49C= (p.Leu17=) c.3442-20657G= (n.3442-20657G=)
2	g.48755623G>T	CA346815618	LHCGR,STON1-GTF2A1L	c.49C>A (p.Leu17Met) c.3442-20657G>T (n.3442-20657G>T)
2	g.48755624_48755625insTGC	CA426095223	LHCGR,STON1-GTF2A1L	c.49_50insAGC (p.Leu16_Leu17insGln) c.3442-20656_3442-20655insTGC (n.3442-20656_3442-20655insTGC)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755624_48755625insTGCTGC	CA2699099416	LHCGR,STON1-GTF2A1L	c.49_50insAGCAGC (p.Leu16_Leu17insGlnGln) c.3442-20656_3442-20655insTGCTGC (n.3442-20656_3442-20655insTGCTGC)	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.48755624C>A	CA426095227	LHCGR,STON1-GTF2A1L	c.48G>T (p.Leu16=) c.3442-20656C>A (n.3442-20656C>A)	dbSNP gnomAD v2
2	g.48755624C=	CA1248636796	LHCGR,STON1-GTF2A1L	c.48G= (p.Leu16=) c.3442-20656C= (n.3442-20656C=)
2	g.48755624C>G	CA426095226	LHCGR,STON1-GTF2A1L	c.48G>C (p.Leu16=) c.3442-20656C>G (n.3442-20656C>G)
2	g.48755624C>T	CA426095225	LHCGR,STON1-GTF2A1L	c.48G>A (p.Leu16=) c.3442-20656C>T (n.3442-20656C>T)	gnomAD v4
2	g.48755624_48755625insTGCAAC	CA2658995107	LHCGR,STON1-GTF2A1L	c.48_49insTTGCAG (p.Leu16_Leu17insLeuGln) c.3442-20656_3442-20655insTGCAAC (n.3442-20656_3442-20655insTGCAAC)	gnomAD v4
2	g.48755624_48755625insTGCATC	CA1653497	LHCGR,STON1-GTF2A1L	c.48_49insATGCAG (p.Leu16_Leu17insMetGln) c.3442-20656_3442-20655insTGCATC (n.3442-20656_3442-20655insTGCATC)	dbSNP ExAC
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.48755624_48755625insTGCAGG	CA2658995108	LHCGR,STON1-GTF2A1L	c.47_48insCCTGCA (p.Leu16_Leu17insLeuGln) c.3442-20656_3442-20655insTGCAGG (n.3442-20656_3442-20655insTGCAGG)	gnomAD v4
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
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)
2	g.48755635G>C	CA346815636	LHCGR,STON1-GTF2A1L	c.37C>G (p.Leu13Val) c.3442-20645G>C (n.3442-20645G>C)
2	g.48755635G>T	CA346815637	LHCGR,STON1-GTF2A1L	c.37C>A (p.Leu13Met) c.3442-20645G>T (n.3442-20645G>T)
2	g.48755636_48755637insGGCGGC	CA2658995114	LHCGR,STON1-GTF2A1L	c.37_38insCGCCGC (p.Lys12_Leu13insProPro) c.3442-20644_3442-20643insGGCGGC (n.3442-20644_3442-20643insGGCGGC)	gnomAD v4
2	g.48755635_48755638delinsGCTT	CA1248636803	LHCGR,STON1-GTF2A1L	c.34_37delinsAAGC (p.Lys12=) c.3442-20645_3442-20642delinsGCTT (n.3442-20645_3442-20642delinsGCTT)
2	g.48755636C>A	CA346815638	LHCGR,STON1-GTF2A1L	c.36G>T (p.Lys12Asn) c.3442-20644C>A (n.3442-20644C>A)	dbSNP
2	g.48755636C=	CA1248636804	LHCGR,STON1-GTF2A1L	c.36G= (p.Lys12=) c.3442-20644C= (n.3442-20644C=)
2	g.48755636C>G	CA346815639	LHCGR,STON1-GTF2A1L	c.36G>C (p.Lys12Asn) c.3442-20644C>G (n.3442-20644C>G)
2	g.48755636C>T	CA426095241	LHCGR,STON1-GTF2A1L	c.36G>A (p.Lys12=) c.3442-20644C>T (n.3442-20644C>T)
2	g.48755636_48755637insATC	CA2658995115	LHCGR,STON1-GTF2A1L	c.36_37insATG (p.Lys12_Leu13insMet) c.3442-20644_3442-20643insATC (n.3442-20644_3442-20643insATC)	gnomAD v4
2	g.48755637_48755639del	CA47295577	LHCGR,STON1-GTF2A1L	c.34_36del (p.Lys12del) c.3442-20643_3442-20641del (n.3442-20643_3442-20641del)	dbSNP gnomAD v2 gnomAD v4
2	g.48755637T>A	CA346815640	LHCGR,STON1-GTF2A1L	c.35A>T (p.Lys12Met) c.3442-20643T>A (n.3442-20643T>A)	gnomAD v4
2	g.48755637T>C	CA346815641	LHCGR,STON1-GTF2A1L	c.35A>G (p.Lys12Arg) c.3442-20643T>C (n.3442-20643T>C)
2	g.48755637T>G	CA346815642	LHCGR,STON1-GTF2A1L	c.35A>C (p.Lys12Thr) c.3442-20643T>G (n.3442-20643T>G)
2	g.48755637_48755638insGT	CA2573051987	LHCGR,STON1-GTF2A1L	c.35_36insCA (p.Lys12AsnfsTer?) c.3442-20643_3442-20642insGT (n.3442-20643_3442-20642insGT)	ClinVar dbSNP
2	g.48755638T>A	CA346815643	LHCGR,STON1-GTF2A1L	c.34A>T (p.Lys12Ter) c.3442-20642T>A (n.3442-20642T>A)
2	g.48755638T>C	CA346815644	LHCGR,STON1-GTF2A1L	c.34A>G (p.Lys12Glu) c.3442-20642T>C (n.3442-20642T>C)
2	g.48755638T>G	CA346815645	LHCGR,STON1-GTF2A1L	c.34A>C (p.Lys12Gln) c.3442-20642T>G (n.3442-20642T>G)	gnomAD v4
2	g.48755638_48755640del	CA2658995116	LHCGR,STON1-GTF2A1L	c.32_34del (p.Leu11_Lys12delinsGln) c.3442-20642_3442-20640del (n.3442-20642_3442-20640del)	gnomAD v4
2	g.48755639C>A	CA426095245	LHCGR,STON1-GTF2A1L	c.33G>T (p.Leu11=) c.3442-20641C>A (n.3442-20641C>A)
2	g.48755639C=	CA1248636805	LHCGR,STON1-GTF2A1L	c.33G= (p.Leu11=) c.3442-20641C= (n.3442-20641C=)
2	g.48755639C>G	CA426095248	LHCGR,STON1-GTF2A1L	c.33G>C (p.Leu11=) c.3442-20641C>G (n.3442-20641C>G)
2	g.48755639C>T	CA426095246	LHCGR,STON1-GTF2A1L	c.33G>A (p.Leu11=) c.3442-20641C>T (n.3442-20641C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755640A=	CA1248636806	LHCGR,STON1-GTF2A1L	c.32T= (p.Leu11=) c.3442-20640A= (n.3442-20640A=)
2	g.48755640A>C	CA346815647	LHCGR,STON1-GTF2A1L	c.32T>G (p.Leu11Arg) c.3442-20640A>C (n.3442-20640A>C)
2	g.48755640A>G	CA1653500	LHCGR,STON1-GTF2A1L	c.32T>C (p.Leu11Pro) c.3442-20640A>G (n.3442-20640A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.48755640A>T	CA346815646	LHCGR,STON1-GTF2A1L	c.32T>A (p.Leu11Gln) c.3442-20640A>T (n.3442-20640A>T)
2	g.48755641G>A	CA426095251	LHCGR,STON1-GTF2A1L	c.31C>T (p.Leu11=) c.3442-20639G>A (n.3442-20639G>A)	dbSNP
2	g.48755641G>C	CA346815648	LHCGR,STON1-GTF2A1L	c.31C>G (p.Leu11Val) c.3442-20639G>C (n.3442-20639G>C)
2	g.48755641G=	CA1248636807	LHCGR,STON1-GTF2A1L	c.31C= (p.Leu11=) c.3442-20639G= (n.3442-20639G=)
2	g.48755641G>T	CA346815649	LHCGR,STON1-GTF2A1L	c.31C>A (p.Leu11Met) c.3442-20639G>T (n.3442-20639G>T)	gnomAD v4
2	g.48755642C>A	CA426095254	LHCGR,STON1-GTF2A1L	c.30G>T (p.Leu10=) c.3442-20638C>A (n.3442-20638C>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755642C=	CA1248636808	LHCGR,STON1-GTF2A1L	c.30G= (p.Leu10=) c.3442-20638C= (n.3442-20638C=)
2	g.48755642C>G	CA426095255	LHCGR,STON1-GTF2A1L	c.30G>C (p.Leu10=) c.3442-20638C>G (n.3442-20638C>G)
2	g.48755642C>T	CA426095257	LHCGR,STON1-GTF2A1L	c.30G>A (p.Leu10=) c.3442-20638C>T (n.3442-20638C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755642_48755643insGGCTG	CA2576963768	LHCGR,STON1-GTF2A1L	c.29_30insCAGCC (p.Leu11SerfsTer3) c.3442-20638_3442-20637insGGCTG (n.3442-20638_3442-20637insGGCTG)
2	g.48755643A=	CA1248636809	LHCGR,STON1-GTF2A1L	c.29T= (p.Leu10=) c.3442-20637A= (n.3442-20637A=)
2	g.48755643A>C	CA346815650	LHCGR,STON1-GTF2A1L	c.29T>G (p.Leu10Arg) c.3442-20637A>C (n.3442-20637A>C)
2	g.48755643A>G	CA47295578	LHCGR,STON1-GTF2A1L	c.29T>C (p.Leu10Pro) c.3442-20637A>G (n.3442-20637A>G)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.48755643A>T	CA346815651	LHCGR,STON1-GTF2A1L	c.29T>A (p.Leu10Gln) c.3442-20637A>T (n.3442-20637A>T)
2	g.48755644G>A	CA426095260	LHCGR,STON1-GTF2A1L	c.28C>T (p.Leu10=) c.3442-20636G>A (n.3442-20636G>A)	gnomAD v4
2	g.48755644G>C	CA346815652	LHCGR,STON1-GTF2A1L	c.28C>G (p.Leu10Val) c.3442-20636G>C (n.3442-20636G>C)
2	g.48755644G>T	CA346815653	LHCGR,STON1-GTF2A1L	c.28C>A (p.Leu10Met) c.3442-20636G>T (n.3442-20636G>T)	gnomAD v4
2	g.48755645C>A	CA346815654	LHCGR,STON1-GTF2A1L	c.27G>T (p.Gln9His) c.3442-20635C>A (n.3442-20635C>A)
2	g.48755645C>G	CA346815655	LHCGR,STON1-GTF2A1L	c.27G>C (p.Gln9His) c.3442-20635C>G (n.3442-20635C>G)
2	g.48755645C>T	CA426095265	LHCGR,STON1-GTF2A1L	c.27G>A (p.Gln9=) c.3442-20635C>T (n.3442-20635C>T)	gnomAD v4
2	g.48755646T>A	CA346815656	LHCGR,STON1-GTF2A1L	c.26A>T (p.Gln9Leu) c.3442-20634T>A (n.3442-20634T>A)	dbSNP gnomAD v4
2	g.48755646T>C	CA346815657	LHCGR,STON1-GTF2A1L	c.26A>G (p.Gln9Arg) c.3442-20634T>C (n.3442-20634T>C)	gnomAD v4
2	g.48755646T>G	CA346815658	LHCGR,STON1-GTF2A1L	c.26A>C (p.Gln9Pro) c.3442-20634T>G (n.3442-20634T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.48755646T=	CA1248636810	LHCGR,STON1-GTF2A1L	c.26A= (p.Gln9=) c.3442-20634T= (n.3442-20634T=)
2	g.48755647G>A	CA346815660	LHCGR,STON1-GTF2A1L	c.25C>T (p.Gln9Ter) c.3442-20633G>A (n.3442-20633G>A)	gnomAD v4
2	g.48755647G>C	CA346815661	LHCGR,STON1-GTF2A1L	c.25C>G (p.Gln9Glu) c.3442-20633G>C (n.3442-20633G>C)	gnomAD v4
2	g.48755647G=	CA1248636811	LHCGR,STON1-GTF2A1L	c.25C= (p.Gln9=) c.3442-20633G= (n.3442-20633G=)
2	g.48755647G>T	CA346815659	LHCGR,STON1-GTF2A1L	c.25C>A (p.Gln9Lys) c.3442-20633G>T (n.3442-20633G>T)	dbSNP gnomAD v2 gnomAD v4
2	g.48755648C>A	CA426095276	LHCGR,STON1-GTF2A1L	c.24G>T (p.Leu8=) c.3442-20632C>A (n.3442-20632C>A)
2	g.48755648C=	CA1248636812	LHCGR,STON1-GTF2A1L	c.24G= (p.Leu8=) c.3442-20632C= (n.3442-20632C=)
2	g.48755648C>G	CA426095274	LHCGR,STON1-GTF2A1L	c.24G>C (p.Leu8=) c.3442-20632C>G (n.3442-20632C>G)
2	g.48755648C>T	CA426095272	LHCGR,STON1-GTF2A1L	c.24G>A (p.Leu8=) c.3442-20632C>T (n.3442-20632C>T)	dbSNP gnomAD v4
2	g.48755649A=	CA1248636813	LHCGR,STON1-GTF2A1L	c.23T= (p.Leu8=) c.3442-20631A= (n.3442-20631A=)
2	g.48755649A>C	CA346815662	LHCGR,STON1-GTF2A1L	c.23T>G (p.Leu8Arg) c.3442-20631A>C (n.3442-20631A>C)
2	g.48755649A>G	CA346815663	LHCGR,STON1-GTF2A1L	c.23T>C (p.Leu8Pro) c.3442-20631A>G (n.3442-20631A>G)	dbSNP gnomAD v4
2	g.48755649A>T	CA346815664	LHCGR,STON1-GTF2A1L	c.23T>A (p.Leu8Gln) c.3442-20631A>T (n.3442-20631A>T)
2	g.48755650G>A	CA426095281	LHCGR,STON1-GTF2A1L	c.22C>T (p.Leu8=) c.3442-20630G>A (n.3442-20630G>A)	COSMIC
2	g.48755650G>C	CA346815665	LHCGR,STON1-GTF2A1L	c.22C>G (p.Leu8Val) c.3442-20630G>C (n.3442-20630G>C)	dbSNP
2	g.48755650G=	CA1248636814	LHCGR,STON1-GTF2A1L	c.22C= (p.Leu8=) c.3442-20630G= (n.3442-20630G=)
2	g.48755650G>T	CA346815666	LHCGR,STON1-GTF2A1L	c.22C>A (p.Leu8Met) c.3442-20630G>T (n.3442-20630G>T)
2	g.48755651C>A	CA426095283	LHCGR,STON1-GTF2A1L	c.21G>T (p.Ala7=) c.3442-20629C>A (n.3442-20629C>A)
2	g.48755651C=	CA1248636815	LHCGR,STON1-GTF2A1L	c.21G= (p.Ala7=) c.3442-20629C= (n.3442-20629C=)
2	g.48755651C>G	CA426095285	LHCGR,STON1-GTF2A1L	c.21G>C (p.Ala7=) c.3442-20629C>G (n.3442-20629C>G)	dbSNP gnomAD v4
2	g.48755651C>T	CA426095287	LHCGR,STON1-GTF2A1L	c.21G>A (p.Ala7=) c.3442-20629C>T (n.3442-20629C>T)	gnomAD v4
2	g.48755652G>A	CA346815669	LHCGR,STON1-GTF2A1L	c.20C>T (p.Ala7Val) c.3442-20628G>A (n.3442-20628G>A)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.48755652G>C	CA346815668	LHCGR,STON1-GTF2A1L	c.20C>G (p.Ala7Gly) c.3442-20628G>C (n.3442-20628G>C)
2	g.48755652G=	CA1248636816	LHCGR,STON1-GTF2A1L	c.20C= (p.Ala7=) c.3442-20628G= (n.3442-20628G=)
2	g.48755652G>T	CA346815667	LHCGR,STON1-GTF2A1L	c.20C>A (p.Ala7Glu) c.3442-20628G>T (n.3442-20628G>T)	gnomAD v4
2	g.48755653C>A	CA346815670	LHCGR,STON1-GTF2A1L	c.19G>T (p.Ala7Ser) c.3442-20627C>A (n.3442-20627C>A)
2	g.48755653C>G	CA346815671	LHCGR,STON1-GTF2A1L	c.19G>C (p.Ala7Pro) c.3442-20627C>G (n.3442-20627C>G)
2	g.48755653C>T	CA346815672	LHCGR,STON1-GTF2A1L	c.19G>A (p.Ala7Thr) c.3442-20627C>T (n.3442-20627C>T)
2	g.48755654C>A	CA426095293	LHCGR,STON1-GTF2A1L	c.18G>T (p.Ser6=) c.3442-20626C>A (n.3442-20626C>A)	gnomAD v4
2	g.48755654C=	CA1248636817	LHCGR,STON1-GTF2A1L	c.18G= (p.Ser6=) c.3442-20626C= (n.3442-20626C=)
2	g.48755654C>G	CA426095294	LHCGR,STON1-GTF2A1L	c.18G>C (p.Ser6=) c.3442-20626C>G (n.3442-20626C>G)	dbSNP gnomAD v2 gnomAD v4
2	g.48755654C>T	CA47295579	LHCGR,STON1-GTF2A1L	c.18G>A (p.Ser6=) c.3442-20626C>T (n.3442-20626C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755655G>A	CA346815673	LHCGR,STON1-GTF2A1L	c.17C>T (p.Ser6Leu) c.3442-20625G>A (n.3442-20625G>A)	ClinVar dbSNP gnomAD v4 COSMIC
2	g.48755655G>C	CA346815674	LHCGR,STON1-GTF2A1L	c.17C>G (p.Ser6Trp) c.3442-20625G>C (n.3442-20625G>C)
2	g.48755655G=	CA1248636818	LHCGR,STON1-GTF2A1L	c.17C= (p.Ser6=) c.3442-20625G= (n.3442-20625G=)
2	g.48755655G>T	CA346815675	LHCGR,STON1-GTF2A1L	c.17C>A (p.Ser6Ter) c.3442-20625G>T (n.3442-20625G>T)	gnomAD v4
2	g.48755656A=	CA1248636819	LHCGR,STON1-GTF2A1L	c.16T= (p.Ser6=) c.3442-20624A= (n.3442-20624A=)
2	g.48755656A>C	CA346815676	LHCGR,STON1-GTF2A1L	c.16T>G (p.Ser6Ala) c.3442-20624A>C (n.3442-20624A>C)
2	g.48755656A>G	CA346815678	LHCGR,STON1-GTF2A1L	c.16T>C (p.Ser6Pro) c.3442-20624A>G (n.3442-20624A>G)
2	g.48755656A>T	CA346815677	LHCGR,STON1-GTF2A1L	c.16T>A (p.Ser6Thr) c.3442-20624A>T (n.3442-20624A>T)	dbSNP
2	g.48755657G>A	CA426095301	LHCGR,STON1-GTF2A1L	c.15C>T (p.Phe5=) c.3442-20623G>A (n.3442-20623G>A)
2	g.48755657G>C	CA346815679	LHCGR,STON1-GTF2A1L	c.15C>G (p.Phe5Leu) c.3442-20623G>C (n.3442-20623G>C)	dbSNP
2	g.48755657G=	CA1248636820	LHCGR,STON1-GTF2A1L	c.15C= (p.Phe5=) c.3442-20623G= (n.3442-20623G=)
2	g.48755657G>T	CA346815680	LHCGR,STON1-GTF2A1L	c.15C>A (p.Phe5Leu) c.3442-20623G>T (n.3442-20623G>T)	gnomAD v4
2	g.48755658A>C	CA346815681	LHCGR,STON1-GTF2A1L	c.14T>G (p.Phe5Cys) c.3442-20622A>C (n.3442-20622A>C)
2	g.48755658A>G	CA346815682	LHCGR,STON1-GTF2A1L	c.14T>C (p.Phe5Ser) c.3442-20622A>G (n.3442-20622A>G)
2	g.48755658A>T	CA346815683	LHCGR,STON1-GTF2A1L	c.14T>A (p.Phe5Tyr) c.3442-20622A>T (n.3442-20622A>T)
2	g.48755659A=	CA1248636821	LHCGR,STON1-GTF2A1L	c.13T= (p.Phe5=) c.3442-20621A= (n.3442-20621A=)
2	g.48755659A>C	CA346815684	LHCGR,STON1-GTF2A1L	c.13T>G (p.Phe5Val) c.3442-20621A>C (n.3442-20621A>C)	dbSNP
2	g.48755659A>G	CA346815685	LHCGR,STON1-GTF2A1L	c.13T>C (p.Phe5Leu) c.3442-20621A>G (n.3442-20621A>G)
2	g.48755659A>T	CA346815686	LHCGR,STON1-GTF2A1L	c.13T>A (p.Phe5Ile) c.3442-20621A>T (n.3442-20621A>T)
2	g.48755660C>A	CA426095309	LHCGR,STON1-GTF2A1L	c.12G>T (p.Arg4=) c.3442-20620C>A (n.3442-20620C>A)
2	g.48755660C=	CA1248636822	LHCGR,STON1-GTF2A1L	c.12G= (p.Arg4=) c.3442-20620C= (n.3442-20620C=)
2	g.48755660C>G	CA426095311	LHCGR,STON1-GTF2A1L	c.12G>C (p.Arg4=) c.3442-20620C>G (n.3442-20620C>G)
2	g.48755660C>T	CA426095313	LHCGR,STON1-GTF2A1L	c.12G>A (p.Arg4=) c.3442-20620C>T (n.3442-20620C>T)	dbSNP
2	g.48755661C>A	CA346815687	LHCGR,STON1-GTF2A1L	c.11G>T (p.Arg4Leu) c.3442-20619C>A (n.3442-20619C>A)	gnomAD v4
2	g.48755661C=	CA1248636823	LHCGR,STON1-GTF2A1L	c.11G= (p.Arg4=) c.3442-20619C= (n.3442-20619C=)
2	g.48755661C>G	CA346815688	LHCGR,STON1-GTF2A1L	c.11G>C (p.Arg4Pro) c.3442-20619C>G (n.3442-20619C>G)
2	g.48755661C>T	CA47295580	LHCGR,STON1-GTF2A1L	c.11G>A (p.Arg4Gln) c.3442-20619C>T (n.3442-20619C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755662G>A	CA346815689	LHCGR,STON1-GTF2A1L	c.10C>T (p.Arg4Trp) c.3442-20618G>A (n.3442-20618G>A)	gnomAD v4
2	g.48755662G>C	CA346815690	LHCGR,STON1-GTF2A1L	c.10C>G (p.Arg4Gly) c.3442-20618G>C (n.3442-20618G>C)
2	g.48755662G>T	CA426095317	LHCGR,STON1-GTF2A1L	c.10C>A (p.Arg4=) c.3442-20618G>T (n.3442-20618G>T)	gnomAD v4
2	g.48755663C>A	CA346815692	LHCGR,STON1-GTF2A1L	c.9G>T (p.Gln3His) c.3442-20617C>A (n.3442-20617C>A)
2	g.48755663C=	CA1248636824	LHCGR,STON1-GTF2A1L	c.9G= (p.Gln3=) c.3442-20617C= (n.3442-20617C=)
2	g.48755663C>G	CA346815691	LHCGR,STON1-GTF2A1L	c.9G>C (p.Gln3His) c.3442-20617C>G (n.3442-20617C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755663C>T	CA426095320	LHCGR,STON1-GTF2A1L	c.9G>A (p.Gln3=) c.3442-20617C>T (n.3442-20617C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755664T>A	CA346815693	LHCGR,STON1-GTF2A1L	c.8A>T (p.Gln3Leu) c.3442-20616T>A (n.3442-20616T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755664T>C	CA346815695	LHCGR,STON1-GTF2A1L	c.8A>G (p.Gln3Arg) c.3442-20616T>C (n.3442-20616T>C)
2	g.48755664T>G	CA346815694	LHCGR,STON1-GTF2A1L	c.8A>C (p.Gln3Pro) c.3442-20616T>G (n.3442-20616T>G)
2	g.48755664T=	CA1248636825	LHCGR,STON1-GTF2A1L	c.8A= (p.Gln3=) c.3442-20616T= (n.3442-20616T=)
2	g.48755665G>A	CA346815696	LHCGR,STON1-GTF2A1L	c.7C>T (p.Gln3Ter) c.3442-20615G>A (n.3442-20615G>A)	gnomAD v4
2	g.48755665G>C	CA346815698	LHCGR,STON1-GTF2A1L	c.7C>G (p.Gln3Glu) c.3442-20615G>C (n.3442-20615G>C)
2	g.48755665G=	CA1248636826	LHCGR,STON1-GTF2A1L	c.7C= (p.Gln3=) c.3442-20615G= (n.3442-20615G=)
2	g.48755665G>T	CA346815697	LHCGR,STON1-GTF2A1L	c.7C>A (p.Gln3Lys) c.3442-20615G>T (n.3442-20615G>T)	dbSNP gnomAD v4
2	g.48755666C>A	CA346815699	LHCGR,STON1-GTF2A1L	c.6G>T (p.Lys2Asn) c.3442-20614C>A (n.3442-20614C>A)
2	g.48755666C=	CA1248636827	LHCGR,STON1-GTF2A1L	c.6G= (p.Lys2=) c.3442-20614C= (n.3442-20614C=)
2	g.48755666C>G	CA346815700	LHCGR,STON1-GTF2A1L	c.6G>C (p.Lys2Asn) c.3442-20614C>G (n.3442-20614C>G)
2	g.48755666C>T	CA426095327	LHCGR,STON1-GTF2A1L	c.6G>A (p.Lys2=) c.3442-20614C>T (n.3442-20614C>T)	dbSNP gnomAD v4
2	g.48755667T>A	CA346815701	LHCGR,STON1-GTF2A1L	c.5A>T (p.Lys2Met) c.3442-20613T>A (n.3442-20613T>A)
2	g.48755667T>C	CA346815702	LHCGR,STON1-GTF2A1L	c.5A>G (p.Lys2Arg) c.3442-20613T>C (n.3442-20613T>C)
2	g.48755667T>G	CA346815703	LHCGR,STON1-GTF2A1L	c.5A>C (p.Lys2Thr) c.3442-20613T>G (n.3442-20613T>G)
2	g.48755668T>A	CA346815704	LHCGR,STON1-GTF2A1L	c.4A>T (p.Lys2Ter) c.3442-20612T>A (n.3442-20612T>A)
2	g.48755668T>C	CA346815705	LHCGR,STON1-GTF2A1L	c.4A>G (p.Lys2Glu) c.3442-20612T>C (n.3442-20612T>C)
2	g.48755668T>G	CA346815706	LHCGR,STON1-GTF2A1L	c.4A>C (p.Lys2Gln) c.3442-20612T>G (n.3442-20612T>G)	dbSNP
2	g.48755668T=	CA1248636828	LHCGR,STON1-GTF2A1L	c.4A= (p.Lys2=) c.3442-20612T= (n.3442-20612T=)
2	g.48755669C>A	CA346815707	LHCGR,STON1-GTF2A1L	c.3G>T (p.Met1Ile) c.3442-20611C>A (n.3442-20611C>A)
2	g.48755669C>G	CA346815708	LHCGR,STON1-GTF2A1L	c.3G>C (p.Met1Ile) c.3442-20611C>G (n.3442-20611C>G)
2	g.48755669C>T	CA346815709	LHCGR,STON1-GTF2A1L	c.3G>A (p.Met1Ile) c.3442-20611C>T (n.3442-20611C>T)	gnomAD v4
2	g.48755670A=	CA1248636829	LHCGR,STON1-GTF2A1L	c.2T= (p.Met1=) c.3442-20610A= (n.3442-20610A=)
2	g.48755670A>C	CA346815710	LHCGR,STON1-GTF2A1L	c.2T>G (p.Met1Arg) c.3442-20610A>C (n.3442-20610A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.48755670A>G	CA346815711	LHCGR,STON1-GTF2A1L	c.2T>C (p.Met1Thr) c.3442-20610A>G (n.3442-20610A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.48755670A>T	CA346815712	LHCGR,STON1-GTF2A1L	c.2T>A (p.Met1Lys) c.3442-20610A>T (n.3442-20610A>T)
2	g.48755671T>A	CA346815715	LHCGR,STON1-GTF2A1L	c.1A>T (p.Met1Leu) c.3442-20609T>A (n.3442-20609T>A)
2	g.48755671T>C	CA346815713	LHCGR,STON1-GTF2A1L	c.1A>G (p.Met1Val) c.3442-20609T>C (n.3442-20609T>C)	gnomAD v4
2	g.48755671T>G	CA346815714	LHCGR,STON1-GTF2A1L	c.1A>C (p.Met1Leu) c.3442-20609T>G (n.3442-20609T>G)
2	g.48755672G>A	CA2658995117	LHCGR,STON1-GTF2A1L	c.-1C>T (n.-1C>T) c.3442-20608G>A (n.3442-20608G>A)	gnomAD v4
2	g.48755672G>T	CA2658995118	LHCGR,STON1-GTF2A1L	c.-1C>A (n.-1C>A) c.3442-20608G>T (n.3442-20608G>T)	gnomAD v4
2	g.48755673G>A	CA1030381891	LHCGR,STON1-GTF2A1L	c.-2C>T (n.-2C>T) c.3442-20607G>A (n.3442-20607G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755673G=	CA1248636830	LHCGR,STON1-GTF2A1L	c.-2C= (n.-2C=) c.3442-20607G= (n.3442-20607G=)
2	g.48755673G>T	CA2658995120	LHCGR,STON1-GTF2A1L	c.-2C>A (n.-2C>A) c.3442-20607G>T (n.3442-20607G>T)	gnomAD v4
2	g.48755674_48755676del	CA2658995119	LHCGR,STON1-GTF2A1L	c.-4_-2del (n.-4_-2del) c.3442-20606_3442-20604del (n.3442-20606_3442-20604del)	gnomAD v4
2	g.48755674C>A	CA2658995121	LHCGR,STON1-GTF2A1L	c.-3G>T (n.-3G>T) c.3442-20606C>A (n.3442-20606C>A)	gnomAD v4
2	g.48755674C=	CA1248636831	LHCGR,STON1-GTF2A1L	c.-3G= (n.-3G=) c.3442-20606C= (n.3442-20606C=)
2	g.48755674C>T	CA532559297	LHCGR,STON1-GTF2A1L	c.-3G>A (n.-3G>A) c.3442-20606C>T (n.3442-20606C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.48755675C>A	CA2658995122	LHCGR,STON1-GTF2A1L	c.-4G>T (n.-4G>T) c.3442-20605C>A (n.3442-20605C>A)	gnomAD v4
2	g.48755675C=	CA1248636832	LHCGR,STON1-GTF2A1L	c.-4G= (n.-4G=) c.3442-20605C= (n.3442-20605C=)
2	g.48755675C>G	CA2658995123	LHCGR,STON1-GTF2A1L	c.-4G>C (n.-4G>C) c.3442-20605C>G (n.3442-20605C>G)	gnomAD v4
2	g.48755675C>T	CA769618429	LHCGR,STON1-GTF2A1L	c.-4G>A (n.-4G>A) c.3442-20605C>T (n.3442-20605C>T)	dbSNP gnomAD v4
2	g.48755676G>A	CA2658995124	LHCGR,STON1-GTF2A1L	c.-5C>T (n.-5C>T) c.3442-20604G>A (n.3442-20604G>A)	gnomAD v4
2	g.48755676G>T	CA2658995125	LHCGR,STON1-GTF2A1L	c.-5C>A (n.-5C>A) c.3442-20604G>T (n.3442-20604G>T)	gnomAD v4
2	g.48755677G>A	CA1653501	LHCGR,STON1-GTF2A1L	c.-6C>T (n.-6C>T) c.3442-20603G>A (n.3442-20603G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755677G=	CA1248636833	LHCGR,STON1-GTF2A1L	c.-6C= (n.-6C=) c.3442-20603G= (n.3442-20603G=)
2	g.48755677G>T	CA2658995126	LHCGR,STON1-GTF2A1L	c.-6C>A (n.-6C>A) c.3442-20603G>T (n.3442-20603G>T)	gnomAD v4
2	g.48755678C=	CA1248636834	LHCGR,STON1-GTF2A1L	c.-7G= (n.-7G=) c.3442-20602C= (n.3442-20602C=)
2	g.48755678C>G	CA532559298	LHCGR,STON1-GTF2A1L	c.-7G>C (n.-7G>C) c.3442-20602C>G (n.3442-20602C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755678C>T	CA47295581	LHCGR,STON1-GTF2A1L	c.-7G>A (n.-7G>A) c.3442-20602C>T (n.3442-20602C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755679G>A	CA532559299	LHCGR,STON1-GTF2A1L	c.-8C>T (n.-8C>T) c.3442-20601G>A (n.3442-20601G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.48755679G=	CA1248636835	LHCGR,STON1-GTF2A1L	c.-8C= (n.-8C=) c.3442-20601G= (n.3442-20601G=)
2	g.48755679G>T	CA1653502	LHCGR,STON1-GTF2A1L	c.-8C>A (n.-8C>A) c.3442-20601G>T (n.3442-20601G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.48755681A=	CA1248636836	LHCGR,STON1-GTF2A1L	c.-10T= (n.-10T=) c.3442-20599A= (n.3442-20599A=)
2	g.48755681A>G	CA532559300	LHCGR,STON1-GTF2A1L	c.-10T>C (n.-10T>C) c.3442-20599A>G (n.3442-20599A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755682C=	CA1248636837	LHCGR,STON1-GTF2A1L	c.-11G= (n.-11G=) c.3442-20598C= (n.3442-20598C=)
2	g.48755682C>G	CA1248636838	LHCGR,STON1-GTF2A1L	c.-11G>C (n.-11G>C) c.3442-20598C>G (n.3442-20598C>G)	dbSNP gnomAD v4
2	g.48755682C>T	CA532559301	LHCGR,STON1-GTF2A1L	c.-11G>A (n.-11G>A) c.3442-20598C>T (n.3442-20598C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755683T>A	CA2658995127	LHCGR,STON1-GTF2A1L	c.-12A>T (n.-12A>T) c.3442-20597T>A (n.3442-20597T>A)	gnomAD v4
2	g.48755683T>C	CA532559302	LHCGR,STON1-GTF2A1L	c.-12A>G (n.-12A>G) c.3442-20597T>C (n.3442-20597T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.48755683T>G	CA2658995128	LHCGR,STON1-GTF2A1L	c.-12A>C (n.-12A>C) c.3442-20597T>G (n.3442-20597T>G)	gnomAD v4
2	g.48755683T=	CA1248636839	LHCGR,STON1-GTF2A1L	c.-12A= (n.-12A=) c.3442-20597T= (n.3442-20597T=)
2	g.48755684G>T	CA2658995129	LHCGR,STON1-GTF2A1L	c.-13C>A (n.-13C>A) c.3442-20596G>T (n.3442-20596G>T)	gnomAD v4
2	g.48755685G=	CA1248636840	LHCGR,STON1-GTF2A1L	c.-14C= (n.-14C=) c.3442-20595G= (n.3442-20595G=)
2	g.48755685G>T	CA532559303	LHCGR,STON1-GTF2A1L	c.-14C>A (n.-14C>A) c.3442-20595G>T (n.3442-20595G>T)	dbSNP gnomAD v2 gnomAD v4
2	g.48755686G>A	CA532559304	LHCGR,STON1-GTF2A1L	c.-15C>T (n.-15C>T) c.3442-20594G>A (n.3442-20594G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.48755686G=	CA1248636841	LHCGR,STON1-GTF2A1L	c.-15C= (n.-15C=) c.3442-20594G= (n.3442-20594G=)
2	g.48755686G>T	CA2658995130	LHCGR,STON1-GTF2A1L	c.-15C>A (n.-15C>A) c.3442-20594G>T (n.3442-20594G>T)	gnomAD v4

Number of alleles fetched