Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.96253887_96253900dup	CA269763	TMEM127	c.627_640dup (p.Met214SerfsTer?) c.375_388dup (p.Met130SerfsTer?) c.-292_-279dup (n.-292_-279dup)	ClinVar dbSNP
2	g.96253894G>A	CA347651823	TMEM127	c.631C>T (p.Leu211Phe) c.379C>T (p.Leu127Phe) c.-288C>T (n.-288C>T)	ClinVar dbSNP
2	g.96253894G>C	CA347651813	TMEM127	c.631C>G (p.Leu211Val) c.379C>G (p.Leu127Val) c.-288C>G (n.-288C>G)	dbSNP
2	g.96253894G>T	CA347651793	TMEM127	c.631C>A (p.Leu211Ile) c.379C>A (p.Leu127Ile) c.-288C>A (n.-288C>A)
2	g.96253895C>A	CA427807791	TMEM127	c.630G>T (p.Leu210=) c.378G>T (p.Leu126=) c.-289G>T (n.-289G>T)	ClinVar
2	g.96253895C=	CA1272522049	TMEM127	c.630G= (p.Leu210=) c.378G= (p.Leu126=) c.-289G= (n.-289G=)
2	g.96253895C>G	CA427807792	TMEM127	c.630G>C (p.Leu210=) c.378G>C (p.Leu126=) c.-289G>C (n.-289G>C)	ClinVar dbSNP
2	g.96253895C>T	CA427807793	TMEM127	c.630G>A (p.Leu210=) c.378G>A (p.Leu126=) c.-289G>A (n.-289G>A)	ClinVar dbSNP
2	g.96253896A>C	CA347651825	TMEM127	c.629T>G (p.Leu210Arg) c.377T>G (p.Leu126Arg) c.-290T>G (n.-290T>G)
2	g.96253896A>G	CA347651827	TMEM127	c.629T>C (p.Leu210Pro) c.377T>C (p.Leu126Pro) c.-290T>C (n.-290T>C)	dbSNP
2	g.96253896A>T	CA347651828	TMEM127	c.629T>A (p.Leu210Gln) c.377T>A (p.Leu126Gln) c.-290T>A (n.-290T>A)	dbSNP
2	g.96253897G>A	CA427807797	TMEM127	c.628C>T (p.Leu210=) c.376C>T (p.Leu126=) c.-291C>T (n.-291C>T)	dbSNP
2	g.96253897G>C	CA347651830	TMEM127	c.628C>G (p.Leu210Val) c.376C>G (p.Leu126Val) c.-291C>G (n.-291C>G)	dbSNP
2	g.96253897G>T	CA347651833	TMEM127	c.628C>A (p.Leu210Met) c.376C>A (p.Leu126Met) c.-291C>A (n.-291C>A)
2	g.96253898C>A	CA347651844	TMEM127	c.627G>T (p.Glu209Asp) c.375G>T (p.Glu125Asp) c.-292G>T (n.-292G>T)
2	g.96253898C>G	CA347651848	TMEM127	c.627G>C (p.Glu209Asp) c.375G>C (p.Glu125Asp) c.-292G>C (n.-292G>C)	dbSNP
2	g.96253898C>T	CA427807798	TMEM127	c.627G>A (p.Glu209=) c.375G>A (p.Glu125=) c.-292G>A (n.-292G>A)	ClinVar dbSNP
2	g.96253899T>A	CA347651853	TMEM127	c.626A>T (p.Glu209Val) c.374A>T (p.Glu125Val) c.-293A>T (n.-293A>T)	ClinVar dbSNP gnomAD v4
2	g.96253899T>C	CA347651854	TMEM127	c.626A>G (p.Glu209Gly) c.374A>G (p.Glu125Gly) c.-293A>G (n.-293A>G)	dbSNP
2	g.96253899T>G	CA347651855	TMEM127	c.626A>C (p.Glu209Ala) c.374A>C (p.Glu125Ala) c.-293A>C (n.-293A>C)
2	g.96253899T=	CA1272522050	TMEM127	c.626A= (p.Glu209=) c.374A= (p.Glu125=) c.-293A= (n.-293A=)
2	g.96253900C>A	CA347651856	TMEM127	c.625G>T (p.Glu209Ter) c.373G>T (p.Glu125Ter) c.-294G>T (n.-294G>T)
2	g.96253900C>G	CA347651857	TMEM127	c.625G>C (p.Glu209Gln) c.373G>C (p.Glu125Gln) c.-294G>C (n.-294G>C)	dbSNP
2	g.96253900C>T	CA347651858	TMEM127	c.625G>A (p.Glu209Lys) c.373G>A (p.Glu125Lys) c.-294G>A (n.-294G>A)	dbSNP gnomAD v4
2	g.96253903_96254383del	CA2573135942	TMEM127	c.410-265_625del c.158-265_373del c.-509-265_-294del	ClinVar dbSNP
2	g.96253901C>A	CA427807804	TMEM127	c.624G>T (p.Leu208=) c.372G>T (p.Leu124=) c.-295G>T (n.-295G>T)
2	g.96253901C>G	CA427807805	TMEM127	c.624G>C (p.Leu208=) c.372G>C (p.Leu124=) c.-295G>C (n.-295G>C)
2	g.96253901C>T	CA427807807	TMEM127	c.624G>A (p.Leu208=) c.372G>A (p.Leu124=) c.-295G>A (n.-295G>A)	ClinVar
2	g.96253902A>C	CA347651860	TMEM127	c.623T>G (p.Leu208Arg) c.371T>G (p.Leu124Arg) c.-296T>G (n.-296T>G)	dbSNP
2	g.96253902A>G	CA347651869	TMEM127	c.623T>C (p.Leu208Pro) c.371T>C (p.Leu124Pro) c.-296T>C (n.-296T>C)	dbSNP
2	g.96253902A>T	CA347651866	TMEM127	c.623T>A (p.Leu208Gln) c.371T>A (p.Leu124Gln) c.-296T>A (n.-296T>A)	dbSNP
2	g.96253903G>A	CA427807808	TMEM127	c.622C>T (p.Leu208=) c.370C>T (p.Leu124=) c.-297C>T (n.-297C>T)
2	g.96253903G>C	CA347651871	TMEM127	c.622C>G (p.Leu208Val) c.370C>G (p.Leu124Val) c.-297C>G (n.-297C>G)
2	g.96253903G>T	CA347651872	TMEM127	c.622C>A (p.Leu208Met) c.370C>A (p.Leu124Met) c.-297C>A (n.-297C>A)
2	g.96253904C>A	CA427807809	TMEM127	c.621G>T (p.Ala207=) c.369G>T (p.Ala123=) c.-298G>T (n.-298G>T)	dbSNP
2	g.96253904C=	CA1272522051	TMEM127	c.621G= (p.Ala207=) c.369G= (p.Ala123=) c.-298G= (n.-298G=)
2	g.96253904C>G	CA427807810	TMEM127	c.621G>C (p.Ala207=) c.369G>C (p.Ala123=) c.-298G>C (n.-298G>C)	ClinVar dbSNP
2	g.96253904C>T	CA137109	TMEM127	c.621G>A (p.Ala207=) c.369G>A (p.Ala123=) c.-298G>A (n.-298G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253905G>A	CA1777268	TMEM127	c.620C>T (p.Ala207Val) c.368C>T (p.Ala123Val) c.-299C>T (n.-299C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.96253905G>C	CA347651877	TMEM127	c.620C>G (p.Ala207Gly) c.368C>G (p.Ala123Gly) c.-299C>G (n.-299C>G)
2	g.96253905G=	CA1272522052	TMEM127	c.620C= (p.Ala207=) c.368C= (p.Ala123=) c.-299C= (n.-299C=)
2	g.96253905G>T	CA347651878	TMEM127	c.620C>A (p.Ala207Glu) c.368C>A (p.Ala123Glu) c.-299C>A (n.-299C>A)	dbSNP
2	g.96253906C>A	CA347651879	TMEM127	c.619G>T (p.Ala207Ser) c.367G>T (p.Ala123Ser) c.-300G>T (n.-300G>T)
2	g.96253906C=	CA1272522053	TMEM127	c.619G= (p.Ala207=) c.367G= (p.Ala123=) c.-300G= (n.-300G=)
2	g.96253906C>G	CA347651882	TMEM127	c.619G>C (p.Ala207Pro) c.367G>C (p.Ala123Pro) c.-300G>C (n.-300G>C)
2	g.96253906C>T	CA1777269	TMEM127	c.619G>A (p.Ala207Thr) c.367G>A (p.Ala123Thr) c.-300G>A (n.-300G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253907C>A	CA347651893	TMEM127	c.618G>T (p.Gln206His) c.366G>T (p.Gln122His) c.-301G>T (n.-301G>T)
2	g.96253907C>G	CA347651896	TMEM127	c.618G>C (p.Gln206His) c.366G>C (p.Gln122His) c.-301G>C (n.-301G>C)	dbSNP
2	g.96253907C>T	CA427807817	TMEM127	c.618G>A (p.Gln206=) c.366G>A (p.Gln122=) c.-301G>A (n.-301G>A)	ClinVar dbSNP
2	g.96253908T>A	CA347651903	TMEM127	c.617A>T (p.Gln206Leu) c.365A>T (p.Gln122Leu) c.-302A>T (n.-302A>T)	dbSNP
2	g.96253908T>C	CA347651908	TMEM127	c.617A>G (p.Gln206Arg) c.365A>G (p.Gln122Arg) c.-302A>G (n.-302A>G)	dbSNP
2	g.96253908T>G	CA347651910	TMEM127	c.617A>C (p.Gln206Pro) c.365A>C (p.Gln122Pro) c.-302A>C (n.-302A>C)
2	g.96253909G>A	CA347651913	TMEM127	c.616C>T (p.Gln206Ter) c.364C>T (p.Gln122Ter) c.-303C>T (n.-303C>T)	ClinVar dbSNP gnomAD v4
2	g.96253909G>C	CA347651914	TMEM127	c.616C>G (p.Gln206Glu) c.364C>G (p.Gln122Glu) c.-303C>G (n.-303C>G)	dbSNP
2	g.96253909G=	CA1272522054	TMEM127	c.616C= (p.Gln206=) c.364C= (p.Gln122=) c.-303C= (n.-303C=)
2	g.96253909G>T	CA347651917	TMEM127	c.616C>A (p.Gln206Lys) c.364C>A (p.Gln122Lys) c.-303C>A (n.-303C>A)	ClinVar dbSNP
2	g.96253910C>A	CA347651918	TMEM127	c.615G>T (p.Glu205Asp) c.363G>T (p.Glu121Asp) c.-304G>T (n.-304G>T)
2	g.96253910C=	CA1272522055	TMEM127	c.615G= (p.Glu205=) c.363G= (p.Glu121=) c.-304G= (n.-304G=)
2	g.96253910C>G	CA347651919	TMEM127	c.615G>C (p.Glu205Asp) c.363G>C (p.Glu121Asp) c.-304G>C (n.-304G>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253910C>T	CA427807822	TMEM127	c.615G>A (p.Glu205=) c.363G>A (p.Glu121=) c.-304G>A (n.-304G>A)	ClinVar gnomAD v4
2	g.96253911T>A	CA347651920	TMEM127	c.614A>T (p.Glu205Val) c.362A>T (p.Glu121Val) c.-305A>T (n.-305A>T)
2	g.96253911T>C	CA347651926	TMEM127	c.614A>G (p.Glu205Gly) c.362A>G (p.Glu121Gly) c.-305A>G (n.-305A>G)
2	g.96253911T>G	CA347651922	TMEM127	c.614A>C (p.Glu205Ala) c.362A>C (p.Glu121Ala) c.-305A>C (n.-305A>C)
2	g.96253911_96253912delinsTC	CA1272522056	TMEM127	c.613_614delinsGA (p.Glu205=) c.361_362delinsGA (p.Glu121=) c.-306_-305delinsGA (n.-306_-305delinsGA)
2	g.96253912C>A	CA347651934	TMEM127	c.613G>T (p.Glu205Ter) c.361G>T (p.Glu121Ter) c.-306G>T (n.-306G>T)	ClinVar dbSNP
2	g.96253912C=	CA1272522057	TMEM127	c.613G= (p.Glu205=) c.361G= (p.Glu121=) c.-306G= (n.-306G=)
2	g.96253912C>G	CA347651935	TMEM127	c.613G>C (p.Glu205Gln) c.361G>C (p.Glu121Gln) c.-306G>C (n.-306G>C)	dbSNP
2	g.96253912C>T	CA347651936	TMEM127	c.613G>A (p.Glu205Lys) c.361G>A (p.Glu121Lys) c.-306G>A (n.-306G>A)	ClinVar dbSNP gnomAD v4
2	g.96253913del	CA1139655614	TMEM127	c.613del (p.Glu205SerfsTer?) c.361del (p.Glu121SerfsTer?) c.-306del (n.-306del)	ClinVar dbSNP gnomAD v4
2	g.96253913C>A	CA347651937	TMEM127	c.612G>T (p.Glu204Asp) c.360G>T (p.Glu120Asp) c.-307G>T (n.-307G>T)
2	g.96253913C=	CA1272522058	TMEM127	c.612G= (p.Glu204=) c.360G= (p.Glu120=) c.-307G= (n.-307G=)
2	g.96253913C>G	CA347651940	TMEM127	c.612G>C (p.Glu204Asp) c.360G>C (p.Glu120Asp) c.-307G>C (n.-307G>C)	ClinVar dbSNP gnomAD v4
2	g.96253913C>T	CA427807825	TMEM127	c.612G>A (p.Glu204=) c.360G>A (p.Glu120=) c.-307G>A (n.-307G>A)	dbSNP gnomAD v4
2	g.96253914del	CA2660177141	TMEM127	c.611del (p.Glu204GlyfsTer?) c.359del (p.Glu120GlyfsTer?) c.-308del (n.-308del)	gnomAD v4
2	g.96253914T>A	CA347651943	TMEM127	c.611A>T (p.Glu204Val) c.359A>T (p.Glu120Val) c.-308A>T (n.-308A>T)	dbSNP
2	g.96253914T>C	CA347651946	TMEM127	c.611A>G (p.Glu204Gly) c.359A>G (p.Glu120Gly) c.-308A>G (n.-308A>G)	dbSNP
2	g.96253914T>G	CA347651947	TMEM127	c.611A>C (p.Glu204Ala) c.359A>C (p.Glu120Ala) c.-308A>C (n.-308A>C)
2	g.96253915C>A	CA347651948	TMEM127	c.610G>T (p.Glu204Ter) c.358G>T (p.Glu120Ter) c.-309G>T (n.-309G>T)
2	g.96253915C=	CA1272522059	TMEM127	c.610G= (p.Glu204=) c.358G= (p.Glu120=) c.-309G= (n.-309G=)
2	g.96253915C>G	CA347651950	TMEM127	c.610G>C (p.Glu204Gln) c.358G>C (p.Glu120Gln) c.-309G>C (n.-309G>C)	dbSNP
2	g.96253915C>T	CA1777270	TMEM127	c.610G>A (p.Glu204Lys) c.358G>A (p.Glu120Lys) c.-309G>A (n.-309G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96253916T>A	CA347651965	TMEM127	c.609A>T (p.Glu203Asp) c.357A>T (p.Glu119Asp) c.-310A>T (n.-310A>T)
2	g.96253916T>C	CA1777271	TMEM127	c.609A>G (p.Glu203=) c.357A>G (p.Glu119=) c.-310A>G (n.-310A>G)	ClinVar dbSNP ExAC
2	g.96253916T>G	CA347651953	TMEM127	c.609A>C (p.Glu203Asp) c.357A>C (p.Glu119Asp) c.-310A>C (n.-310A>C)
2	g.96253916T=	CA1272522060	TMEM127	c.609A= (p.Glu203=) c.357A= (p.Glu119=) c.-310A= (n.-310A=)
2	g.96253917T>A	CA347651975	TMEM127	c.608A>T (p.Glu203Val) c.356A>T (p.Glu119Val) c.-311A>T (n.-311A>T)
2	g.96253917T>C	CA347651969	TMEM127	c.608A>G (p.Glu203Gly) c.356A>G (p.Glu119Gly) c.-311A>G (n.-311A>G)	dbSNP
2	g.96253917T>G	CA347651971	TMEM127	c.608A>C (p.Glu203Ala) c.356A>C (p.Glu119Ala) c.-311A>C (n.-311A>C)	ClinVar
2	g.96253918C>A	CA347651981	TMEM127	c.607G>T (p.Glu203Ter) c.355G>T (p.Glu119Ter) c.-312G>T (n.-312G>T)	dbSNP
2	g.96253918C>G	CA347651982	TMEM127	c.607G>C (p.Glu203Gln) c.355G>C (p.Glu119Gln) c.-312G>C (n.-312G>C)	dbSNP
2	g.96253918C>T	CA347651996	TMEM127	c.607G>A (p.Glu203Lys) c.355G>A (p.Glu119Lys) c.-312G>A (n.-312G>A)	ClinVar dbSNP
2	g.96253919C>A	CA52411971	TMEM127	c.606G>T (p.Glu202Asp) c.354G>T (p.Glu118Asp) c.-313G>T (n.-313G>T)	dbSNP
2	g.96253919C=	CA1272522061	TMEM127	c.606G= (p.Glu202=) c.354G= (p.Glu118=) c.-313G= (n.-313G=)
2	g.96253919C>G	CA347652002	TMEM127	c.606G>C (p.Glu202Asp) c.354G>C (p.Glu118Asp) c.-313G>C (n.-313G>C)	dbSNP
2	g.96253919C>T	CA1777272	TMEM127	c.606G>A (p.Glu202=) c.354G>A (p.Glu118=) c.-313G>A (n.-313G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96253920T>A	CA347652007	TMEM127	c.605A>T (p.Glu202Val) c.353A>T (p.Glu118Val) c.-314A>T (n.-314A>T)
2	g.96253920T>C	CA347652008	TMEM127	c.605A>G (p.Glu202Gly) c.353A>G (p.Glu118Gly) c.-314A>G (n.-314A>G)	ClinVar
2	g.96253920T>G	CA347652015	TMEM127	c.605A>C (p.Glu202Ala) c.353A>C (p.Glu118Ala) c.-314A>C (n.-314A>C)
2	g.96253921C>A	CA347652017	TMEM127	c.604G>T (p.Glu202Ter) c.352G>T (p.Glu118Ter) c.-315G>T (n.-315G>T)
2	g.96253921C=	CA1272522062	TMEM127	c.604G= (p.Glu202=) c.352G= (p.Glu118=) c.-315G= (n.-315G=)
2	g.96253921C>G	CA347652018	TMEM127	c.604G>C (p.Glu202Gln) c.352G>C (p.Glu118Gln) c.-315G>C (n.-315G>C)	dbSNP
2	g.96253921C>T	CA347652022	TMEM127	c.604G>A (p.Glu202Lys) c.352G>A (p.Glu118Lys) c.-315G>A (n.-315G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.96253922T>A	CA427807834	TMEM127	c.603A>T (p.Thr201=) c.351A>T (p.Thr117=) c.-316A>T (n.-316A>T)
2	g.96253922T>C	CA427807833	TMEM127	c.603A>G (p.Thr201=) c.351A>G (p.Thr117=) c.-316A>G (n.-316A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.96253922T>G	CA427807832	TMEM127	c.603A>C (p.Thr201=) c.351A>C (p.Thr117=) c.-316A>C (n.-316A>C)	ClinVar dbSNP
2	g.96253922T=	CA1272522063	TMEM127	c.603A= (p.Thr201=) c.351A= (p.Thr117=) c.-316A= (n.-316A=)
2	g.96253923G>A	CA347652026	TMEM127	c.602C>T (p.Thr201Ile) c.350C>T (p.Thr117Ile) c.-317C>T (n.-317C>T)	dbSNP
2	g.96253923G>C	CA347652030	TMEM127	c.602C>G (p.Thr201Arg) c.350C>G (p.Thr117Arg) c.-317C>G (n.-317C>G)	dbSNP
2	g.96253923G>T	CA347652028	TMEM127	c.602C>A (p.Thr201Lys) c.350C>A (p.Thr117Lys) c.-317C>A (n.-317C>A)
2	g.96253924T>A	CA347652033	TMEM127	c.601A>T (p.Thr201Ser) c.349A>T (p.Thr117Ser) c.-318A>T (n.-318A>T)	ClinVar dbSNP gnomAD v4
2	g.96253924T>C	CA347652035	TMEM127	c.601A>G (p.Thr201Ala) c.349A>G (p.Thr117Ala) c.-318A>G (n.-318A>G)	ClinVar dbSNP
2	g.96253924T>G	CA347652036	TMEM127	c.601A>C (p.Thr201Pro) c.349A>C (p.Thr117Pro) c.-318A>C (n.-318A>C)
2	g.96253924T=	CA1272522064	TMEM127	c.601A= (p.Thr201=) c.349A= (p.Thr117=) c.-318A= (n.-318A=)
2	g.96253925G>A	CA427807836	TMEM127	c.600C>T (p.Pro200=) c.348C>T (p.Pro116=) c.-319C>T (n.-319C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.96253925G>C	CA427807837	TMEM127	c.600C>G (p.Pro200=) c.348C>G (p.Pro116=) c.-319C>G (n.-319C>G)	dbSNP gnomAD v4
2	g.96253925G=	CA1272522065	TMEM127	c.600C= (p.Pro200=) c.348C= (p.Pro116=) c.-319C= (n.-319C=)
2	g.96253925G>T	CA16611030	TMEM127	c.600C>A (p.Pro200=) c.348C>A (p.Pro116=) c.-319C>A (n.-319C>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.96253926G>A	CA347652038	TMEM127	c.599C>T (p.Pro200Leu) c.347C>T (p.Pro116Leu) c.-320C>T (n.-320C>T)
2	g.96253926G>C	CA347652041	TMEM127	c.599C>G (p.Pro200Arg) c.347C>G (p.Pro116Arg) c.-320C>G (n.-320C>G)
2	g.96253926G>T	CA347652046	TMEM127	c.599C>A (p.Pro200His) c.347C>A (p.Pro116His) c.-320C>A (n.-320C>A)
2	g.96253927G>A	CA52411978	TMEM127	c.598C>T (p.Pro200Ser) c.346C>T (p.Pro116Ser) c.-321C>T (n.-321C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253927G>C	CA347652050	TMEM127	c.598C>G (p.Pro200Ala) c.346C>G (p.Pro116Ala) c.-321C>G (n.-321C>G)	dbSNP
2	g.96253927G=	CA1272522066	TMEM127	c.598C= (p.Pro200=) c.346C= (p.Pro116=) c.-321C= (n.-321C=)
2	g.96253927G>T	CA1777273	TMEM127	c.598C>A (p.Pro200Thr) c.346C>A (p.Pro116Thr) c.-321C>A (n.-321C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253928G>A	CA427807839	TMEM127	c.597C>T (p.Tyr199=) c.345C>T (p.Tyr115=) c.-322C>T (n.-322C>T)	ClinVar dbSNP
2	g.96253928G>C	CA347652051	TMEM127	c.597C>G (p.Tyr199Ter) c.345C>G (p.Tyr115Ter) c.-322C>G (n.-322C>G)
2	g.96253928G=	CA1272522067	TMEM127	c.597C= (p.Tyr199=) c.345C= (p.Tyr115=) c.-322C= (n.-322C=)
2	g.96253928G>T	CA347652052	TMEM127	c.597C>A (p.Tyr199Ter) c.345C>A (p.Tyr115Ter) c.-322C>A (n.-322C>A)	ClinVar dbSNP
2	g.96253929T>A	CA347652057	TMEM127	c.596A>T (p.Tyr199Phe) c.344A>T (p.Tyr115Phe) c.-323A>T (n.-323A>T)	ClinVar dbSNP
2	g.96253929T>C	CA347652072	TMEM127	c.596A>G (p.Tyr199Cys) c.344A>G (p.Tyr115Cys) c.-323A>G (n.-323A>G)	dbSNP
2	g.96253929T>G	CA347652054	TMEM127	c.596A>C (p.Tyr199Ser) c.344A>C (p.Tyr115Ser) c.-323A>C (n.-323A>C)	dbSNP
2	g.96253929T=	CA1272522068	TMEM127	c.596A= (p.Tyr199=) c.344A= (p.Tyr115=) c.-323A= (n.-323A=)
2	g.96253930A>C	CA347652083	TMEM127	c.595T>G (p.Tyr199Asp) c.343T>G (p.Tyr115Asp) c.-324T>G (n.-324T>G)
2	g.96253930A>G	CA347652086	TMEM127	c.595T>C (p.Tyr199His) c.343T>C (p.Tyr115His) c.-324T>C (n.-324T>C)	dbSNP
2	g.96253930A>T	CA347652085	TMEM127	c.595T>A (p.Tyr199Asn) c.343T>A (p.Tyr115Asn) c.-324T>A (n.-324T>A)	dbSNP
2	g.96253931G>A	CA427807841	TMEM127	c.594C>T (p.His198=) c.342C>T (p.His114=) c.-325C>T (n.-325C>T)	dbSNP
2	g.96253931G>C	CA347652088	TMEM127	c.594C>G (p.His198Gln) c.342C>G (p.His114Gln) c.-325C>G (n.-325C>G)	ClinVar dbSNP
2	g.96253931G>T	CA347652089	TMEM127	c.594C>A (p.His198Gln) c.342C>A (p.His114Gln) c.-325C>A (n.-325C>A)
2	g.96253932T>A	CA347652092	TMEM127	c.593A>T (p.His198Leu) c.341A>T (p.His114Leu) c.-326A>T (n.-326A>T)
2	g.96253932T>C	CA347652095	TMEM127	c.593A>G (p.His198Arg) c.341A>G (p.His114Arg) c.-326A>G (n.-326A>G)	ClinVar
2	g.96253932T>G	CA347652098	TMEM127	c.593A>C (p.His198Pro) c.341A>C (p.His114Pro) c.-326A>C (n.-326A>C)
2	g.96253933G>A	CA347652102	TMEM127	c.592C>T (p.His198Tyr) c.340C>T (p.His114Tyr) c.-327C>T (n.-327C>T)
2	g.96253933G>C	CA347652123	TMEM127	c.592C>G (p.His198Asp) c.340C>G (p.His114Asp) c.-327C>G (n.-327C>G)
2	g.96253933G>T	CA347652127	TMEM127	c.592C>A (p.His198Asn) c.340C>A (p.His114Asn) c.-327C>A (n.-327C>A)
2	g.96253934G>A	CA427807845	TMEM127	c.591C>T (p.Arg197=) c.339C>T (p.Arg113=) c.-328C>T (n.-328C>T)	ClinVar dbSNP
2	g.96253934G>C	CA427807846	TMEM127	c.591C>G (p.Arg197=) c.339C>G (p.Arg113=) c.-328C>G (n.-328C>G)	dbSNP
2	g.96253934G>T	CA427807847	TMEM127	c.591C>A (p.Arg197=) c.339C>A (p.Arg113=) c.-328C>A (n.-328C>A)	dbSNP
2	g.96253935C>A	CA347652137	TMEM127	c.590G>T (p.Arg197Leu) c.338G>T (p.Arg113Leu) c.-329G>T (n.-329G>T)	dbSNP
2	g.96253935C=	CA1272522069	TMEM127	c.590G= (p.Arg197=) c.338G= (p.Arg113=) c.-329G= (n.-329G=)
2	g.96253935C>G	CA347652139	TMEM127	c.590G>C (p.Arg197Pro) c.338G>C (p.Arg113Pro) c.-329G>C (n.-329G>C)	dbSNP
2	g.96253935C>T	CA347652142	TMEM127	c.590G>A (p.Arg197His) c.338G>A (p.Arg113His) c.-329G>A (n.-329G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.96253936G>A	CA1777274	TMEM127	c.589C>T (p.Arg197Cys) c.337C>T (p.Arg113Cys) c.-330C>T (n.-330C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.96253936G>C	CA347652148	TMEM127	c.589C>G (p.Arg197Gly) c.337C>G (p.Arg113Gly) c.-330C>G (n.-330C>G)	dbSNP
2	g.96253936G=	CA1272522070	TMEM127	c.589C= (p.Arg197=) c.337C= (p.Arg113=) c.-330C= (n.-330C=)
2	g.96253936G>T	CA347652146	TMEM127	c.589C>A (p.Arg197Ser) c.337C>A (p.Arg113Ser) c.-330C>A (n.-330C>A)	dbSNP
2	g.96253937C>A	CA427807849	TMEM127	c.588G>T (p.Leu196=) c.336G>T (p.Leu112=) c.-331G>T (n.-331G>T)	gnomAD v4
2	g.96253937C=	CA1272522071	TMEM127	c.588G= (p.Leu196=) c.336G= (p.Leu112=) c.-331G= (n.-331G=)
2	g.96253937C>G	CA427807850	TMEM127	c.588G>C (p.Leu196=) c.336G>C (p.Leu112=) c.-331G>C (n.-331G>C)	dbSNP gnomAD v4
2	g.96253937C>T	CA427807852	TMEM127	c.588G>A (p.Leu196=) c.336G>A (p.Leu112=) c.-331G>A (n.-331G>A)	ClinVar dbSNP
2	g.96253938A=	CA1272522072	TMEM127	c.587T= (p.Leu196=) c.335T= (p.Leu112=) c.-332T= (n.-332T=)
2	g.96253938A>C	CA347652163	TMEM127	c.587T>G (p.Leu196Arg) c.335T>G (p.Leu112Arg) c.-332T>G (n.-332T>G)	ClinVar dbSNP
2	g.96253938A>G	CA347652165	TMEM127	c.587T>C (p.Leu196Pro) c.335T>C (p.Leu112Pro) c.-332T>C (n.-332T>C)	dbSNP gnomAD v4
2	g.96253938A>T	CA347652168	TMEM127	c.587T>A (p.Leu196Gln) c.335T>A (p.Leu112Gln) c.-332T>A (n.-332T>A)	dbSNP
2	g.96253939G>A	CA427807855	TMEM127	c.586C>T (p.Leu196=) c.334C>T (p.Leu112=) c.-333C>T (n.-333C>T)	ClinVar dbSNP
2	g.96253939G>C	CA347652172	TMEM127	c.586C>G (p.Leu196Val) c.334C>G (p.Leu112Val) c.-333C>G (n.-333C>G)	dbSNP
2	g.96253939G>T	CA347652175	TMEM127	c.586C>A (p.Leu196Met) c.334C>A (p.Leu112Met) c.-333C>A (n.-333C>A)
2	g.96253940G>A	CA1777275	TMEM127	c.585C>T (p.Leu195=) c.333C>T (p.Leu111=) c.-334C>T (n.-334C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253940G>C	CA427807857	TMEM127	c.585C>G (p.Leu195=) c.333C>G (p.Leu111=) c.-334C>G (n.-334C>G)	dbSNP
2	g.96253940G=	CA1272522073	TMEM127	c.585C= (p.Leu195=) c.333C= (p.Leu111=) c.-334C= (n.-334C=)
2	g.96253940G>T	CA427807856	TMEM127	c.585C>A (p.Leu195=) c.333C>A (p.Leu111=) c.-334C>A (n.-334C>A)
2	g.96253941A=	CA1272522075	TMEM127	c.584T= (p.Leu195=) c.332T= (p.Leu111=) c.-335T= (n.-335T=)
2	g.96253941A>C	CA347652180	TMEM127	c.584T>G (p.Leu195Arg) c.332T>G (p.Leu111Arg) c.-335T>G (n.-335T>G)	ClinVar dbSNP
2	g.96253941A>G	CA347652184	TMEM127	c.584T>C (p.Leu195Pro) c.332T>C (p.Leu111Pro) c.-335T>C (n.-335T>C)	ClinVar dbSNP gnomAD v4
2	g.96253941A>T	CA347652188	TMEM127	c.584T>A (p.Leu195His) c.332T>A (p.Leu111His) c.-335T>A (n.-335T>A)	dbSNP
2	g.96253941_96253946delinsAGGTTG	CA1272522074	TMEM127	c.579_584delinsCAACCT (p.Ala193=) c.327_332delinsCAACCT (p.Ala109=) c.-340_-335delinsCAACCT (n.-340_-335delinsCAACCT)
2	g.96253942G>A	CA347652193	TMEM127	c.583C>T (p.Leu195Phe) c.331C>T (p.Leu111Phe) c.-336C>T (n.-336C>T)	ClinVar dbSNP
2	g.96253942G>C	CA347652195	TMEM127	c.583C>G (p.Leu195Val) c.331C>G (p.Leu111Val) c.-336C>G (n.-336C>G)
2	g.96253942G>T	CA347652204	TMEM127	c.583C>A (p.Leu195Ile) c.331C>A (p.Leu111Ile) c.-336C>A (n.-336C>A)
2	g.96253943_96253947del	CA916602735	TMEM127	c.579_583del (p.Asn194ProfsTer?) c.327_331del (p.Asn110ProfsTer?) c.-340_-336del (n.-340_-336del)	dbSNP
2	g.96253943G>A	CA427807863	TMEM127	c.582C>T (p.Asn194=) c.330C>T (p.Asn110=) c.-337C>T (n.-337C>T)	ClinVar dbSNP
2	g.96253943G>C	CA347652207	TMEM127	c.582C>G (p.Asn194Lys) c.330C>G (p.Asn110Lys) c.-337C>G (n.-337C>G)
2	g.96253943G>T	CA347652210	TMEM127	c.582C>A (p.Asn194Lys) c.330C>A (p.Asn110Lys) c.-337C>A (n.-337C>A)	gnomAD v4
2	g.96253944T>A	CA347652213	TMEM127	c.581A>T (p.Asn194Ile) c.329A>T (p.Asn110Ile) c.-338A>T (n.-338A>T)	dbSNP
2	g.96253944T>C	CA347652216	TMEM127	c.581A>G (p.Asn194Ser) c.329A>G (p.Asn110Ser) c.-338A>G (n.-338A>G)	dbSNP
2	g.96253944T>G	CA347652219	TMEM127	c.581A>C (p.Asn194Thr) c.329A>C (p.Asn110Thr) c.-338A>C (n.-338A>C)	dbSNP
2	g.96253944T=	CA1272522076	TMEM127	c.581A= (p.Asn194=) c.329A= (p.Asn110=) c.-338A= (n.-338A=)
2	g.96253945T>A	CA347652223	TMEM127	c.580A>T (p.Asn194Tyr) c.328A>T (p.Asn110Tyr) c.-339A>T (n.-339A>T)
2	g.96253945T>C	CA347652224	TMEM127	c.580A>G (p.Asn194Asp) c.328A>G (p.Asn110Asp) c.-339A>G (n.-339A>G)	dbSNP
2	g.96253945T>G	CA347652227	TMEM127	c.580A>C (p.Asn194His) c.328A>C (p.Asn110His) c.-339A>C (n.-339A>C)
2	g.96253946G>A	CA427807869	TMEM127	c.579C>T (p.Ala193=) c.327C>T (p.Ala109=) c.-340C>T (n.-340C>T)
2	g.96253946G>C	CA427807865	TMEM127	c.579C>G (p.Ala193=) c.327C>G (p.Ala109=) c.-340C>G (n.-340C>G)
2	g.96253946G>T	CA427807867	TMEM127	c.579C>A (p.Ala193=) c.327C>A (p.Ala109=) c.-340C>A (n.-340C>A)	dbSNP gnomAD v4
2	g.96253947G>A	CA347652230	TMEM127	c.578C>T (p.Ala193Val) c.326C>T (p.Ala109Val) c.-341C>T (n.-341C>T)	dbSNP
2	g.96253947G>C	CA347652238	TMEM127	c.578C>G (p.Ala193Gly) c.326C>G (p.Ala109Gly) c.-341C>G (n.-341C>G)	dbSNP
2	g.96253947G>T	CA347652241	TMEM127	c.578C>A (p.Ala193Asp) c.326C>A (p.Ala109Asp) c.-341C>A (n.-341C>A)	dbSNP
2	g.96253948C>A	CA347652244	TMEM127	c.577G>T (p.Ala193Ser) c.325G>T (p.Ala109Ser) c.-342G>T (n.-342G>T)	dbSNP
2	g.96253948C=	CA1272522077	TMEM127	c.577G= (p.Ala193=) c.325G= (p.Ala109=) c.-342G= (n.-342G=)
2	g.96253948C>G	CA347652245	TMEM127	c.577G>C (p.Ala193Pro) c.325G>C (p.Ala109Pro) c.-342G>C (n.-342G>C)	dbSNP
2	g.96253948C>T	CA347652262	TMEM127	c.577G>A (p.Ala193Thr) c.325G>A (p.Ala109Thr) c.-342G>A (n.-342G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253949T>A	CA427807872	TMEM127	c.576A>T (p.Ala192=) c.324A>T (p.Ala108=) c.-343A>T (n.-343A>T)	dbSNP
2	g.96253949T>C	CA427807873	TMEM127	c.576A>G (p.Ala192=) c.324A>G (p.Ala108=) c.-343A>G (n.-343A>G)
2	g.96253949T>G	CA427807874	TMEM127	c.576A>C (p.Ala192=) c.324A>C (p.Ala108=) c.-343A>C (n.-343A>C)
2	g.96253950G>A	CA347652270	TMEM127	c.575C>T (p.Ala192Val) c.323C>T (p.Ala108Val) c.-344C>T (n.-344C>T)	ClinVar dbSNP
2	g.96253950G>C	CA347652268	TMEM127	c.575C>G (p.Ala192Gly) c.323C>G (p.Ala108Gly) c.-344C>G (n.-344C>G)	dbSNP
2	g.96253950G>T	CA347652265	TMEM127	c.575C>A (p.Ala192Glu) c.323C>A (p.Ala108Glu) c.-344C>A (n.-344C>A)	dbSNP
2	g.96253951C>A	CA347652271	TMEM127	c.574G>T (p.Ala192Ser) c.322G>T (p.Ala108Ser) c.-345G>T (n.-345G>T)	ClinVar dbSNP
2	g.96253951C>G	CA347652275	TMEM127	c.574G>C (p.Ala192Pro) c.322G>C (p.Ala108Pro) c.-345G>C (n.-345G>C)	dbSNP
2	g.96253951C>T	CA347652284	TMEM127	c.574G>A (p.Ala192Thr) c.322G>A (p.Ala108Thr) c.-345G>A (n.-345G>A)	dbSNP gnomAD v4
2	g.96253952C>A	CA427807880	TMEM127	c.573G>T (p.Thr191=) c.321G>T (p.Thr107=) c.-346G>T (n.-346G>T)	dbSNP
2	g.96253952C=	CA1272522078	TMEM127	c.573G= (p.Thr191=) c.321G= (p.Thr107=) c.-346G= (n.-346G=)
2	g.96253952C>G	CA427807879	TMEM127	c.573G>C (p.Thr191=) c.321G>C (p.Thr107=) c.-346G>C (n.-346G>C)	dbSNP
2	g.96253952C>T	CA1777276	TMEM127	c.573G>A (p.Thr191=) c.321G>A (p.Thr107=) c.-346G>A (n.-346G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253953del	CA2586964985	TMEM127	c.572del (p.Thr191ArgfsTer?) c.320del (p.Thr107ArgfsTer?) c.-347del (n.-347del)
2	g.96253953G>A	CA1777277	TMEM127	c.572C>T (p.Thr191Met) c.320C>T (p.Thr107Met) c.-347C>T (n.-347C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253953G>C	CA347652298	TMEM127	c.572C>G (p.Thr191Arg) c.320C>G (p.Thr107Arg) c.-347C>G (n.-347C>G)	dbSNP
2	g.96253953G=	CA1272522079	TMEM127	c.572C= (p.Thr191=) c.320C= (p.Thr107=) c.-347C= (n.-347C=)
2	g.96253953G>T	CA347652299	TMEM127	c.572C>A (p.Thr191Lys) c.320C>A (p.Thr107Lys) c.-347C>A (n.-347C>A)
2	g.96253954_96253977dup	CA2580068313	TMEM127	c.549_572dup (p.Thr191_Ala192insGlyGlyAlaSerIleLeuAlaThr) c.297_320dup (p.Thr107_Ala108insGlyGlyAlaSerIleLeuAlaThr) c.-370_-347dup (n.-370_-347dup)	ClinVar
2	g.96253954T>A	CA347652300	TMEM127	c.571A>T (p.Thr191Ser) c.319A>T (p.Thr107Ser) c.-348A>T (n.-348A>T)	dbSNP
2	g.96253954T>C	CA347652302	TMEM127	c.571A>G (p.Thr191Ala) c.319A>G (p.Thr107Ala) c.-348A>G (n.-348A>G)
2	g.96253954T>G	CA347652304	TMEM127	c.571A>C (p.Thr191Pro) c.319A>C (p.Thr107Pro) c.-348A>C (n.-348A>C)
2	g.96253954_96253955delinsTG	CA1272522080	TMEM127	c.570_571delinsCA (p.Ala190=) c.318_319delinsCA (p.Ala106=) c.-349_-348delinsCA (n.-349_-348delinsCA)
2	g.96253955G>A	CA427807953	TMEM127	c.570C>T (p.Ala190=) c.318C>T (p.Ala106=) c.-349C>T (n.-349C>T)	ClinVar dbSNP gnomAD v4
2	g.96253955G>C	CA427807955	TMEM127	c.570C>G (p.Ala190=) c.318C>G (p.Ala106=) c.-349C>G (n.-349C>G)
2	g.96253955G=	CA1272522081	TMEM127	c.570C= (p.Ala190=) c.318C= (p.Ala106=) c.-349C= (n.-349C=)
2	g.96253955G>T	CA427807958	TMEM127	c.570C>A (p.Ala190=) c.318C>A (p.Ala106=) c.-349C>A (n.-349C>A)
2	g.96253956del	CA534634931	TMEM127	c.570del (p.Thr191ArgfsTer?) c.318del (p.Thr107ArgfsTer?) c.-349del (n.-349del)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.96253956G>A	CA347652307	TMEM127	c.569C>T (p.Ala190Val) c.317C>T (p.Ala106Val) c.-350C>T (n.-350C>T)	ClinVar
2	g.96253956G>C	CA347652310	TMEM127	c.569C>G (p.Ala190Gly) c.317C>G (p.Ala106Gly) c.-350C>G (n.-350C>G)	ClinVar dbSNP
2	g.96253956G>T	CA347652316	TMEM127	c.569C>A (p.Ala190Asp) c.317C>A (p.Ala106Asp) c.-350C>A (n.-350C>A)	ClinVar
2	g.96253957C>A	CA347652323	TMEM127	c.568G>T (p.Ala190Ser) c.316G>T (p.Ala106Ser) c.-351G>T (n.-351G>T)	dbSNP
2	g.96253957C=	CA1272522082	TMEM127	c.568G= (p.Ala190=) c.316G= (p.Ala106=) c.-351G= (n.-351G=)
2	g.96253957C>G	CA1777278	TMEM127	c.568G>C (p.Ala190Pro) c.316G>C (p.Ala106Pro) c.-351G>C (n.-351G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253957C>T	CA347652319	TMEM127	c.568G>A (p.Ala190Thr) c.316G>A (p.Ala106Thr) c.-351G>A (n.-351G>A)	ClinVar dbSNP gnomAD v4
2	g.96253958C>A	CA427807962	TMEM127	c.567G>T (p.Leu189=) c.315G>T (p.Leu105=) c.-352G>T (n.-352G>T)	dbSNP
2	g.96253958C=	CA1272522083	TMEM127	c.567G= (p.Leu189=) c.315G= (p.Leu105=) c.-352G= (n.-352G=)
2	g.96253958C>G	CA427807963	TMEM127	c.567G>C (p.Leu189=) c.315G>C (p.Leu105=) c.-352G>C (n.-352G>C)	dbSNP
2	g.96253958C>T	CA1777279	TMEM127	c.567G>A (p.Leu189=) c.315G>A (p.Leu105=) c.-352G>A (n.-352G>A)	ClinVar dbSNP ExAC
2	g.96253959A>C	CA347652338	TMEM127	c.566T>G (p.Leu189Arg) c.314T>G (p.Leu105Arg) c.-353T>G (n.-353T>G)
2	g.96253959A>G	CA347652340	TMEM127	c.566T>C (p.Leu189Pro) c.314T>C (p.Leu105Pro) c.-353T>C (n.-353T>C)	ClinVar gnomAD v4
2	g.96253959A>T	CA347652339	TMEM127	c.566T>A (p.Leu189Gln) c.314T>A (p.Leu105Gln) c.-353T>A (n.-353T>A)	dbSNP
2	g.96253960G>A	CA188441	TMEM127	c.565C>T (p.Leu189=) c.313C>T (p.Leu105=) c.-354C>T (n.-354C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253960G>C	CA1777280	TMEM127	c.565C>G (p.Leu189Val) c.313C>G (p.Leu105Val) c.-354C>G (n.-354C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253960G=	CA1272522084	TMEM127	c.565C= (p.Leu189=) c.313C= (p.Leu105=) c.-354C= (n.-354C=)
2	g.96253960G>T	CA347652342	TMEM127	c.565C>A (p.Leu189Met) c.313C>A (p.Leu105Met) c.-354C>A (n.-354C>A)	dbSNP
2	g.96253961G>A	CA1777281	TMEM127	c.564C>T (p.Ile188=) c.312C>T (p.Ile104=) c.-355C>T (n.-355C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253961G>C	CA347652345	TMEM127	c.564C>G (p.Ile188Met) c.312C>G (p.Ile104Met) c.-355C>G (n.-355C>G)	dbSNP
2	g.96253961G=	CA1272522085	TMEM127	c.564C= (p.Ile188=) c.312C= (p.Ile104=) c.-355C= (n.-355C=)
2	g.96253961G>T	CA427807966	TMEM127	c.564C>A (p.Ile188=) c.312C>A (p.Ile104=) c.-355C>A (n.-355C>A)	ClinVar
2	g.96253962A=	CA1272522086	TMEM127	c.563T= (p.Ile188=) c.311T= (p.Ile104=) c.-356T= (n.-356T=)
2	g.96253962A>C	CA347652347	TMEM127	c.563T>G (p.Ile188Ser) c.311T>G (p.Ile104Ser) c.-356T>G (n.-356T>G)
2	g.96253962A>G	CA347652349	TMEM127	c.563T>C (p.Ile188Thr) c.311T>C (p.Ile104Thr) c.-356T>C (n.-356T>C)	dbSNP gnomAD v4
2	g.96253962A>T	CA347652351	TMEM127	c.563T>A (p.Ile188Asn) c.311T>A (p.Ile104Asn) c.-356T>A (n.-356T>A)	dbSNP
2	g.96253963T>A	CA347652353	TMEM127	c.562A>T (p.Ile188Phe) c.310A>T (p.Ile104Phe) c.-357A>T (n.-357A>T)	dbSNP
2	g.96253963T>C	CA1777282	TMEM127	c.562A>G (p.Ile188Val) c.310A>G (p.Ile104Val) c.-357A>G (n.-357A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253963T>G	CA347652355	TMEM127	c.562A>C (p.Ile188Leu) c.310A>C (p.Ile104Leu) c.-357A>C (n.-357A>C)	dbSNP
2	g.96253963T=	CA1272522087	TMEM127	c.562A= (p.Ile188=) c.310A= (p.Ile104=) c.-357A= (n.-357A=)
2	g.96253964T>A	CA427807972	TMEM127	c.561A>T (p.Ser187=) c.309A>T (p.Ser103=) c.-358A>T (n.-358A>T)
2	g.96253964T>C	CA427807973	TMEM127	c.561A>G (p.Ser187=) c.309A>G (p.Ser103=) c.-358A>G (n.-358A>G)	ClinVar dbSNP
2	g.96253964T>G	CA427807974	TMEM127	c.561A>C (p.Ser187=) c.309A>C (p.Ser103=) c.-358A>C (n.-358A>C)	dbSNP
2	g.96253965G>A	CA347652360	TMEM127	c.560C>T (p.Ser187Leu) c.308C>T (p.Ser103Leu) c.-359C>T (n.-359C>T)	ClinVar dbSNP gnomAD v4 COSMIC
2	g.96253965G>C	CA347652359	TMEM127	c.560C>G (p.Ser187Ter) c.308C>G (p.Ser103Ter) c.-359C>G (n.-359C>G)	ClinVar dbSNP
2	g.96253965G=	CA1272522088	TMEM127	c.560C= (p.Ser187=) c.308C= (p.Ser103=) c.-359C= (n.-359C=)
2	g.96253965G>T	CA347652357	TMEM127	c.560C>A (p.Ser187Ter) c.308C>A (p.Ser103Ter) c.-359C>A (n.-359C>A)	dbSNP
2	g.96253966A>C	CA347652361	TMEM127	c.559T>G (p.Ser187Ala) c.307T>G (p.Ser103Ala) c.-360T>G (n.-360T>G)
2	g.96253966A>G	CA347652363	TMEM127	c.559T>C (p.Ser187Pro) c.307T>C (p.Ser103Pro) c.-360T>C (n.-360T>C)	ClinVar dbSNP
2	g.96253966A>T	CA347652365	TMEM127	c.559T>A (p.Ser187Thr) c.307T>A (p.Ser103Thr) c.-360T>A (n.-360T>A)	dbSNP
2	g.96253967G>A	CA427807980	TMEM127	c.558C>T (p.Ala186=) c.306C>T (p.Ala102=) c.-361C>T (n.-361C>T)	gnomAD v4
2	g.96253967G>C	CA427807981	TMEM127	c.558C>G (p.Ala186=) c.306C>G (p.Ala102=) c.-361C>G (n.-361C>G)
2	g.96253967G>T	CA427807982	TMEM127	c.558C>A (p.Ala186=) c.306C>A (p.Ala102=) c.-361C>A (n.-361C>A)	dbSNP
2	g.96253968G>A	CA347652369	TMEM127	c.557C>T (p.Ala186Val) c.305C>T (p.Ala102Val) c.-362C>T (n.-362C>T)
2	g.96253968G>C	CA347652371	TMEM127	c.557C>G (p.Ala186Gly) c.305C>G (p.Ala102Gly) c.-362C>G (n.-362C>G)	gnomAD v4
2	g.96253968G>T	CA347652372	TMEM127	c.557C>A (p.Ala186Asp) c.305C>A (p.Ala102Asp) c.-362C>A (n.-362C>A)
2	g.96253969C>A	CA1777283	TMEM127	c.556G>T (p.Ala186Ser) c.304G>T (p.Ala102Ser) c.-363G>T (n.-363G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96253969C=	CA1272522089	TMEM127	c.556G= (p.Ala186=) c.304G= (p.Ala102=) c.-363G= (n.-363G=)
2	g.96253969C>G	CA347652373	TMEM127	c.556G>C (p.Ala186Pro) c.304G>C (p.Ala102Pro) c.-363G>C (n.-363G>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.96253969C>T	CA347652374	TMEM127	c.556G>A (p.Ala186Thr) c.304G>A (p.Ala102Thr) c.-363G>A (n.-363G>A)	ClinVar
2	g.96253970T>A	CA427807988	TMEM127	c.555A>T (p.Gly185=) c.303A>T (p.Gly101=) c.-364A>T (n.-364A>T)
2	g.96253970T>C	CA427807989	TMEM127	c.555A>G (p.Gly185=) c.303A>G (p.Gly101=) c.-364A>G (n.-364A>G)
2	g.96253970T>G	CA427807991	TMEM127	c.555A>C (p.Gly185=) c.303A>C (p.Gly101=) c.-364A>C (n.-364A>C)	ClinVar dbSNP gnomAD v4
2	g.96253970_96253982dup	CA2586964986	TMEM127	c.543_555dup (p.Ala186ArgfsTer?) c.291_303dup (p.Ala102ArgfsTer?) c.-376_-364dup (n.-376_-364dup)
2	g.96253970_96253983delinsTCCACCAGCTCCTG	CA1272522090	TMEM127	c.542_555delinsCAGGAGCTGGTGGA (p.Ala181=) c.290_303delinsCAGGAGCTGGTGGA (p.Ala97=) c.-377_-364delinsCAGGAGCTGGTGGA (n.-377_-364delinsCAGGAGCTGGTGGA)
2	g.96253971C>A	CA347652375	TMEM127	c.554G>T (p.Gly185Val) c.302G>T (p.Gly101Val) c.-365G>T (n.-365G>T)
2	g.96253971C=	CA1272522091	TMEM127	c.554G= (p.Gly185=) c.302G= (p.Gly101=) c.-365G= (n.-365G=)
2	g.96253971C>G	CA347652376	TMEM127	c.554G>C (p.Gly185Ala) c.302G>C (p.Gly101Ala) c.-365G>C (n.-365G>C)
2	g.96253971C>T	CA1777284	TMEM127	c.554G>A (p.Gly185Glu) c.302G>A (p.Gly101Glu) c.-365G>A (n.-365G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96253972_96253985del	CA2586964987	TMEM127	c.541_554del (p.Ala181SerfsTer?) c.289_302del (p.Ala97SerfsTer?) c.-378_-365del (n.-378_-365del)
2	g.96253978_96253990del	CA1139655615	TMEM127	c.542_554del (p.Ala181GlufsTer?) c.290_302del (p.Ala97GlufsTer?) c.-377_-365del (n.-377_-365del)	ClinVar dbSNP
2	g.96253972C>A	CA347652383	TMEM127	c.553G>T (p.Gly185Ter) c.301G>T (p.Gly101Ter) c.-366G>T (n.-366G>T)	dbSNP
2	g.96253972C=	CA1272522092	TMEM127	c.553G= (p.Gly185=) c.301G= (p.Gly101=) c.-366G= (n.-366G=)
2	g.96253972C>G	CA347652381	TMEM127	c.553G>C (p.Gly185Arg) c.301G>C (p.Gly101Arg) c.-366G>C (n.-366G>C)	dbSNP
2	g.96253972C>T	CA347652379	TMEM127	c.553G>A (p.Gly185Arg) c.301G>A (p.Gly101Arg) c.-366G>A (n.-366G>A)	ClinVar dbSNP gnomAD v4
2	g.96253973A=	CA1272522093	TMEM127	c.552T= (p.Gly184=) c.300T= (p.Gly100=) c.-367T= (n.-367T=)
2	g.96253973A>C	CA427807993	TMEM127	c.552T>G (p.Gly184=) c.300T>G (p.Gly100=) c.-367T>G (n.-367T>G)	dbSNP gnomAD v4
2	g.96253973A>G	CA427807996	TMEM127	c.552T>C (p.Gly184=) c.300T>C (p.Gly100=) c.-367T>C (n.-367T>C)	ClinVar
2	g.96253973A>T	CA427807994	TMEM127	c.552T>A (p.Gly184=) c.300T>A (p.Gly100=) c.-367T>A (n.-367T>A)	ClinVar
2	g.96253974C>A	CA347652387	TMEM127	c.551G>T (p.Gly184Val) c.299G>T (p.Gly100Val) c.-368G>T (n.-368G>T)	ClinVar dbSNP
2	g.96253974C>G	CA347652385	TMEM127	c.551G>C (p.Gly184Ala) c.299G>C (p.Gly100Ala) c.-368G>C (n.-368G>C)	dbSNP
2	g.96253974C>T	CA347652386	TMEM127	c.551G>A (p.Gly184Asp) c.299G>A (p.Gly100Asp) c.-368G>A (n.-368G>A)	dbSNP
2	g.96253975del	CA2700000764	TMEM127	c.551del (p.Gly184ValfsTer?) c.299del (p.Gly100ValfsTer?) c.-368del (n.-368del)	dbSNP
2	g.96253975C>A	CA347652388	TMEM127	c.550G>T (p.Gly184Cys) c.298G>T (p.Gly100Cys) c.-369G>T (n.-369G>T)
2	g.96253975C=	CA1272522094	TMEM127	c.550G= (p.Gly184=) c.298G= (p.Gly100=) c.-369G= (n.-369G=)
2	g.96253975C>G	CA16611124	TMEM127	c.550G>C (p.Gly184Arg) c.298G>C (p.Gly100Arg) c.-369G>C (n.-369G>C)	ClinVar dbSNP
2	g.96253975C>T	CA347652389	TMEM127	c.550G>A (p.Gly184Ser) c.298G>A (p.Gly100Ser) c.-369G>A (n.-369G>A)	ClinVar dbSNP
2	g.96253976A>C	CA427808002	TMEM127	c.549T>G (p.Ala183=) c.297T>G (p.Ala99=) c.-370T>G (n.-370T>G)
2	g.96253976A>G	CA427808003	TMEM127	c.549T>C (p.Ala183=) c.297T>C (p.Ala99=) c.-370T>C (n.-370T>C)	ClinVar
2	g.96253976A>T	CA427808004	TMEM127	c.549T>A (p.Ala183=) c.297T>A (p.Ala99=) c.-370T>A (n.-370T>A)	dbSNP
2	g.96253977G>A	CA347652396	TMEM127	c.548C>T (p.Ala183Val) c.296C>T (p.Ala99Val) c.-371C>T (n.-371C>T)	dbSNP
2	g.96253977G>C	CA347652394	TMEM127	c.548C>G (p.Ala183Gly) c.296C>G (p.Ala99Gly) c.-371C>G (n.-371C>G)	ClinVar dbSNP
2	g.96253977G>T	CA347652392	TMEM127	c.548C>A (p.Ala183Asp) c.296C>A (p.Ala99Asp) c.-371C>A (n.-371C>A)
2	g.96253978C>A	CA347652397	TMEM127	c.547G>T (p.Ala183Ser) c.295G>T (p.Ala99Ser) c.-372G>T (n.-372G>T)	ClinVar dbSNP
2	g.96253978C>G	CA347652399	TMEM127	c.547G>C (p.Ala183Pro) c.295G>C (p.Ala99Pro) c.-372G>C (n.-372G>C)	dbSNP
2	g.96253978C>T	CA347652401	TMEM127	c.547G>A (p.Ala183Thr) c.295G>A (p.Ala99Thr) c.-372G>A (n.-372G>A)	gnomAD v4
2	g.96253979T>A	CA427808009	TMEM127	c.546A>T (p.Gly182=) c.294A>T (p.Gly98=) c.-373A>T (n.-373A>T)	dbSNP
2	g.96253979T>C	CA427808011	TMEM127	c.546A>G (p.Gly182=) c.294A>G (p.Gly98=) c.-373A>G (n.-373A>G)	dbSNP
2	g.96253979T>G	CA427808012	TMEM127	c.546A>C (p.Gly182=) c.294A>C (p.Gly98=) c.-373A>C (n.-373A>C)
2	g.96253979T=	CA1272522095	TMEM127	c.546A= (p.Gly182=) c.294A= (p.Gly98=) c.-373A= (n.-373A=)
2	g.96253980C>A	CA347652404	TMEM127	c.545G>T (p.Gly182Val) c.293G>T (p.Gly98Val) c.-374G>T (n.-374G>T)	dbSNP
2	g.96253980C=	CA1272522096	TMEM127	c.545G= (p.Gly182=) c.293G= (p.Gly98=) c.-374G= (n.-374G=)
2	g.96253980C>G	CA347652406	TMEM127	c.545G>C (p.Gly182Ala) c.293G>C (p.Gly98Ala) c.-374G>C (n.-374G>C)	ClinVar dbSNP gnomAD v4
2	g.96253980C>T	CA1777285	TMEM127	c.545G>A (p.Gly182Glu) c.293G>A (p.Gly98Glu) c.-374G>A (n.-374G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253981C>A	CA347652412	TMEM127	c.544G>T (p.Gly182Ter) c.292G>T (p.Gly98Ter) c.-375G>T (n.-375G>T)	dbSNP
2	g.96253981C>G	CA347652417	TMEM127	c.544G>C (p.Gly182Arg) c.292G>C (p.Gly98Arg) c.-375G>C (n.-375G>C)
2	g.96253981C>T	CA347652415	TMEM127	c.544G>A (p.Gly182Arg) c.292G>A (p.Gly98Arg) c.-375G>A (n.-375G>A)	ClinVar dbSNP COSMIC
2	g.96253982T>A	CA427808016	TMEM127	c.543A>T (p.Ala181=) c.291A>T (p.Ala97=) c.-376A>T (n.-376A>T)	dbSNP
2	g.96253982T>C	CA427808017	TMEM127	c.543A>G (p.Ala181=) c.291A>G (p.Ala97=) c.-376A>G (n.-376A>G)	ClinVar dbSNP
2	g.96253982T>G	CA427808018	TMEM127	c.543A>C (p.Ala181=) c.291A>C (p.Ala97=) c.-376A>C (n.-376A>C)
2	g.96253983G>A	CA347652418	TMEM127	c.542C>T (p.Ala181Val) c.290C>T (p.Ala97Val) c.-377C>T (n.-377C>T)
2	g.96253983G>C	CA347652421	TMEM127	c.542C>G (p.Ala181Gly) c.290C>G (p.Ala97Gly) c.-377C>G (n.-377C>G)
2	g.96253983G>T	CA347652422	TMEM127	c.542C>A (p.Ala181Glu) c.290C>A (p.Ala97Glu) c.-377C>A (n.-377C>A)
2	g.96253984C>A	CA347652424	TMEM127	c.541G>T (p.Ala181Ser) c.289G>T (p.Ala97Ser) c.-378G>T (n.-378G>T)	dbSNP
2	g.96253984C=	CA1272522097	TMEM127	c.541G= (p.Ala181=) c.289G= (p.Ala97=) c.-378G= (n.-378G=)
2	g.96253984C>G	CA347652428	TMEM127	c.541G>C (p.Ala181Pro) c.289G>C (p.Ala97Pro) c.-378G>C (n.-378G>C)	dbSNP
2	g.96253984C>T	CA347652430	TMEM127	c.541G>A (p.Ala181Thr) c.289G>A (p.Ala97Thr) c.-378G>A (n.-378G>A)	dbSNP
2	g.96253985dup	CA2580611366	TMEM127	c.541dup (p.Ala181GlyfsTer?) c.289dup (p.Ala97GlyfsTer?) c.-378dup (n.-378dup)	ClinVar
2	g.96253985C>A	CA427808022	TMEM127	c.540G>T (p.Val180=) c.288G>T (p.Val96=) c.-379G>T (n.-379G>T)	dbSNP
2	g.96253985C=	CA1272522098	TMEM127	c.540G= (p.Val180=) c.288G= (p.Val96=) c.-379G= (n.-379G=)
2	g.96253985C>G	CA427808025	TMEM127	c.540G>C (p.Val180=) c.288G>C (p.Val96=) c.-379G>C (n.-379G>C)
2	g.96253985C>T	CA427808024	TMEM127	c.540G>A (p.Val180=) c.288G>A (p.Val96=) c.-379G>A (n.-379G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.96253986A>C	CA347652451	TMEM127	c.539T>G (p.Val180Gly) c.287T>G (p.Val96Gly) c.-380T>G (n.-380T>G)
2	g.96253986A>G	CA347652454	TMEM127	c.539T>C (p.Val180Ala) c.287T>C (p.Val96Ala) c.-380T>C (n.-380T>C)	ClinVar
2	g.96253986A>T	CA347652457	TMEM127	c.539T>A (p.Val180Glu) c.287T>A (p.Val96Glu) c.-380T>A (n.-380T>A)	dbSNP
2	g.96253986dup	CA2580068316	TMEM127	c.539dup (p.Ala181GlyfsTer?) c.287dup (p.Ala97GlyfsTer?) c.-380dup (n.-380dup)	ClinVar
2	g.96253987C>A	CA347652461	TMEM127	c.538G>T (p.Val180Leu) c.286G>T (p.Val96Leu) c.-381G>T (n.-381G>T)	ClinVar dbSNP
2	g.96253987C=	CA1272522099	TMEM127	c.538G= (p.Val180=) c.286G= (p.Val96=) c.-381G= (n.-381G=)
2	g.96253987C>G	CA347652462	TMEM127	c.538G>C (p.Val180Leu) c.286G>C (p.Val96Leu) c.-381G>C (n.-381G>C)	dbSNP
2	g.96253987C>T	CA1777286	TMEM127	c.538G>A (p.Val180Met) c.286G>A (p.Val96Met) c.-381G>A (n.-381G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96253988C>A	CA427808029	TMEM127	c.537G>T (p.Leu179=) c.285G>T (p.Leu95=) c.-382G>T (n.-382G>T)
2	g.96253988C=	CA1272522100	TMEM127	c.537G= (p.Leu179=) c.285G= (p.Leu95=) c.-382G= (n.-382G=)
2	g.96253988C>G	CA427808030	TMEM127	c.537G>C (p.Leu179=) c.285G>C (p.Leu95=) c.-382G>C (n.-382G>C)	ClinVar dbSNP
2	g.96253988C>T	CA427808031	TMEM127	c.537G>A (p.Leu179=) c.285G>A (p.Leu95=) c.-382G>A (n.-382G>A)
2	g.96253989A=	CA1272522101	TMEM127	c.536T= (p.Leu179=) c.284T= (p.Leu95=) c.-383T= (n.-383T=)
2	g.96253989A>C	CA347652481	TMEM127	c.536T>G (p.Leu179Arg) c.284T>G (p.Leu95Arg) c.-383T>G (n.-383T>G)
2	g.96253989A>G	CA347652485	TMEM127	c.536T>C (p.Leu179Pro) c.284T>C (p.Leu95Pro) c.-383T>C (n.-383T>C)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.96253989A>T	CA347652478	TMEM127	c.536T>A (p.Leu179Gln) c.284T>A (p.Leu95Gln) c.-383T>A (n.-383T>A)
2	g.96253990_96254064del	CA2751311961	TMEM127	c.462_536del (p.Ile154_Leu179delinsMet) c.210_284del (p.Ile70_Leu95delinsMet) c.-457_-383del (n.-457_-383del)
2	g.96253990G>A	CA427808034	TMEM127	c.535C>T (p.Leu179=) c.283C>T (p.Leu95=) c.-384C>T (n.-384C>T)	dbSNP gnomAD v4
2	g.96253990G>C	CA347652486	TMEM127	c.535C>G (p.Leu179Val) c.283C>G (p.Leu95Val) c.-384C>G (n.-384C>G)	dbSNP
2	g.96253990G>T	CA347652488	TMEM127	c.535C>A (p.Leu179Met) c.283C>A (p.Leu95Met) c.-384C>A (n.-384C>A)	dbSNP
2	g.96253991G>A	CA1777287	TMEM127	c.534C>T (p.Tyr178=) c.282C>T (p.Tyr94=) c.-385C>T (n.-385C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96253991G>C	CA347652490	TMEM127	c.534C>G (p.Tyr178Ter) c.282C>G (p.Tyr94Ter) c.-385C>G (n.-385C>G)	dbSNP
2	g.96253991G=	CA1272522102	TMEM127	c.534C= (p.Tyr178=) c.282C= (p.Tyr94=) c.-385C= (n.-385C=)
2	g.96253991G>T	CA347652492	TMEM127	c.534C>A (p.Tyr178Ter) c.282C>A (p.Tyr94Ter) c.-385C>A (n.-385C>A)	gnomAD v4
2	g.96253992T>A	CA347652495	TMEM127	c.533A>T (p.Tyr178Phe) c.281A>T (p.Tyr94Phe) c.-386A>T (n.-386A>T)
2	g.96253992T>C	CA347652503	TMEM127	c.533A>G (p.Tyr178Cys) c.281A>G (p.Tyr94Cys) c.-386A>G (n.-386A>G)	gnomAD v4
2	g.96253992T>G	CA347652505	TMEM127	c.533A>C (p.Tyr178Ser) c.281A>C (p.Tyr94Ser) c.-386A>C (n.-386A>C)	dbSNP
2	g.96253992T=	CA1272522103	TMEM127	c.533A= (p.Tyr178=) c.281A= (p.Tyr94=) c.-386A= (n.-386A=)
2	g.96253993del	CA2660177237	TMEM127	c.532del (p.Tyr178ThrfsTer?) c.280del (p.Tyr94ThrfsTer?) c.-387del (n.-387del)	gnomAD v4
2	g.96253993A=	CA1272522104	TMEM127	c.532T= (p.Tyr178=) c.280T= (p.Tyr94=) c.-387T= (n.-387T=)
2	g.96253993A>C	CA347652507	TMEM127	c.532T>G (p.Tyr178Asp) c.280T>G (p.Tyr94Asp) c.-387T>G (n.-387T>G)
2	g.96253993A>G	CA347652510	TMEM127	c.532T>C (p.Tyr178His) c.280T>C (p.Tyr94His) c.-387T>C (n.-387T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.96253993A>T	CA347652513	TMEM127	c.532T>A (p.Tyr178Asn) c.280T>A (p.Tyr94Asn) c.-387T>A (n.-387T>A)
2	g.96253993dup	CA16617773	TMEM127	c.532dup (p.Tyr178LeufsTer?) c.280dup (p.Tyr94LeufsTer?) c.-387dup (n.-387dup)	ClinVar dbSNP
2	g.96253995_96254009dup	CA2586964988	TMEM127	c.518_532dup (p.Phe177_Tyr178insPheAlaValSerPhe) c.266_280dup (p.Phe93_Tyr94insPheAlaValSerPhe) c.-401_-387dup (n.-401_-387dup)
2	g.96253994G>A	CA427808038	TMEM127	c.531C>T (p.Phe177=) c.279C>T (p.Phe93=) c.-388C>T (n.-388C>T)	dbSNP COSMIC
2	g.96253994G>C	CA347652517	TMEM127	c.531C>G (p.Phe177Leu) c.279C>G (p.Phe93Leu) c.-388C>G (n.-388C>G)	dbSNP
2	g.96253994G>T	CA347652519	TMEM127	c.531C>A (p.Phe177Leu) c.279C>A (p.Phe93Leu) c.-388C>A (n.-388C>A)
2	g.96253994_96253995delinsGA	CA1272522105	TMEM127	c.530_531delinsTC (p.Phe177=) c.278_279delinsTC (p.Phe93=) c.-389_-388delinsTC (n.-389_-388delinsTC)

Number of alleles fetched