Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.201078946T>A	CA350268543	NDUFB3	c.64T>A (p.Trp22Arg)
2	g.201078946T>C	CA2052282	NDUFB3	c.64T>C (p.Trp22Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.201078946T>G	CA350268544	NDUFB3	c.64T>G (p.Trp22Gly)
2	g.201078946T=	CA1320911017	NDUFB3	c.64T= (p.Trp22=)
2	g.201078947G>A	CA350268550	NDUFB3	c.65G>A (p.Trp22Ter)
2	g.201078947G>C	CA350268549	NDUFB3	c.65G>C (p.Trp22Ser)
2	g.201078947G>T	CA350268547	NDUFB3	c.65G>T (p.Trp22Leu)
2	g.201078948G>A	CA350268552	NDUFB3	c.66G>A (p.Trp22Ter)	dbSNP gnomAD v2 gnomAD v4
2	g.201078948G>C	CA350268554	NDUFB3	c.66G>C (p.Trp22Cys)
2	g.201078948G=	CA1320911018	NDUFB3	c.66G= (p.Trp22=)
2	g.201078948G>T	CA350268556	NDUFB3	c.66G>T (p.Trp22Cys)
2	g.201078949A>C	CA350268558	NDUFB3	c.67A>C (p.Lys23Gln)
2	g.201078949A>G	CA350268560	NDUFB3	c.67A>G (p.Lys23Glu)
2	g.201078949A>T	CA350268562	NDUFB3	c.67A>T (p.Lys23Ter)
2	g.201078950A>C	CA350268565	NDUFB3	c.68A>C (p.Lys23Thr)
2	g.201078950A>G	CA350268568	NDUFB3	c.68A>G (p.Lys23Arg)
2	g.201078950A>T	CA350268566	NDUFB3	c.68A>T (p.Lys23Met)
2	g.201078951G>A	CA430608167	NDUFB3	c.69G>A (p.Lys23=)	gnomAD v4
2	g.201078951G>C	CA350268570	NDUFB3	c.69G>C (p.Lys23Asn)
2	g.201078951G>T	CA350268572	NDUFB3	c.69G>T (p.Lys23Asn)
2	g.201078952A>C	CA350268575	NDUFB3	c.70A>C (p.Ile24Leu)
2	g.201078952A>G	CA350268576	NDUFB3	c.70A>G (p.Ile24Val)
2	g.201078952A>T	CA350268578	NDUFB3	c.70A>T (p.Ile24Leu)
2	g.201078953T>A	CA350268580	NDUFB3	c.71T>A (p.Ile24Lys)
2	g.201078953T>C	CA2052283	NDUFB3	c.71T>C (p.Ile24Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.201078953T>G	CA350268583	NDUFB3	c.71T>G (p.Ile24Arg)
2	g.201078953T=	CA1320911019	NDUFB3	c.71T= (p.Ile24=)
2	g.201078954A>C	CA430608168	NDUFB3	c.72A>C (p.Ile24=)
2	g.201078954A>G	CA350268585	NDUFB3	c.72A>G (p.Ile24Met)	gnomAD v4
2	g.201078954A>T	CA430608169	NDUFB3	c.72A>T (p.Ile24=)
2	g.201078955G>A	CA350268588	NDUFB3	c.73G>A (p.Glu25Lys)
2	g.201078955G>C	CA350268590	NDUFB3	c.73G>C (p.Glu25Gln)
2	g.201078955G>T	CA350268591	NDUFB3	c.73G>T (p.Glu25Ter)
2	g.201078956A>C	CA350268596	NDUFB3	c.74A>C (p.Glu25Ala)
2	g.201078956A>G	CA350268598	NDUFB3	c.74A>G (p.Glu25Gly)
2	g.201078956A>T	CA350268594	NDUFB3	c.74A>T (p.Glu25Val)
2	g.201078957A>C	CA350268602	NDUFB3	c.75A>C (p.Glu25Asp)	ClinVar gnomAD v4
2	g.201078957A>G	CA430608173	NDUFB3	c.75A>G (p.Glu25=)	gnomAD v4
2	g.201078957A>T	CA350268601	NDUFB3	c.75A>T (p.Glu25Asp)
2	g.201078958G>A	CA350268605	NDUFB3	c.76G>A (p.Gly26Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.201078958G>C	CA350268607	NDUFB3	c.76G>C (p.Gly26Arg)
2	g.201078958G=	CA1320911020	NDUFB3	c.76G= (p.Gly26=)
2	g.201078958G>T	CA350268608	NDUFB3	c.76G>T (p.Gly26Trp)
2	g.201078959G>A	CA350268610	NDUFB3	c.77G>A (p.Gly26Glu)
2	g.201078959G>C	CA350268611	NDUFB3	c.77G>C (p.Gly26Ala)
2	g.201078959G>T	CA350268614	NDUFB3	c.77G>T (p.Gly26Val)
2	g.201078960G>A	CA430608175	NDUFB3	c.78G>A (p.Gly26=)	dbSNP gnomAD v3 gnomAD v4
2	g.201078960G>C	CA430608176	NDUFB3	c.78G>C (p.Gly26=)	dbSNP gnomAD v3 gnomAD v4
2	g.201078960G=	CA1320911021	NDUFB3	c.78G= (p.Gly26=)
2	g.201078960G>T	CA430608177	NDUFB3	c.78G>T (p.Gly26=)
2	g.201078961A=	CA1320911022	NDUFB3	c.79A= (p.Thr27=)
2	g.201078961A>C	CA350268616	NDUFB3	c.79A>C (p.Thr27Pro)
2	g.201078961A>G	CA350268620	NDUFB3	c.79A>G (p.Thr27Ala)
2	g.201078961A>T	CA350268618	NDUFB3	c.79A>T (p.Thr27Ser)	dbSNP
2	g.201078962C>A	CA350268622	NDUFB3	c.80C>A (p.Thr27Lys)
2	g.201078962C>G	CA350268623	NDUFB3	c.80C>G (p.Thr27Arg)
2	g.201078962C>T	CA350268625	NDUFB3	c.80C>T (p.Thr27Ile)
2	g.201078963A=	CA1320911023	NDUFB3	c.81A= (p.Thr27=)
2	g.201078963A>C	CA430608180	NDUFB3	c.81A>C (p.Thr27=)
2	g.201078963A>G	CA430608181	NDUFB3	c.81A>G (p.Thr27=)
2	g.201078963A>T	CA63864273	NDUFB3	c.81A>T (p.Thr27=)	dbSNP
2	g.201078964C>A	CA350268629	NDUFB3	c.82C>A (p.Pro28Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.201078964C=	CA1320911024	NDUFB3	c.82C= (p.Pro28=)
2	g.201078964C>G	CA2052284	NDUFB3	c.82C>G (p.Pro28Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.201078964C>T	CA350268631	NDUFB3	c.82C>T (p.Pro28Ser)	gnomAD v4
2	g.201078965C>A	CA350268634	NDUFB3	c.83C>A (p.Pro28Gln)
2	g.201078965C>G	CA350268636	NDUFB3	c.83C>G (p.Pro28Arg)
2	g.201078965C>T	CA350268638	NDUFB3	c.83C>T (p.Pro28Leu)
2	g.201078966A=	CA1320911025	NDUFB3	c.84A= (p.Pro28=)
2	g.201078966A>C	CA430608184	NDUFB3	c.84A>C (p.Pro28=)
2	g.201078966A>G	CA2052285	NDUFB3	c.84A>G (p.Pro28=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.201078966A>T	CA430608185	NDUFB3	c.84A>T (p.Pro28=)
2	g.201078967T>A	CA350268642	NDUFB3	c.85T>A (p.Leu29Ile)
2	g.201078967T>C	CA430608186	NDUFB3	c.85T>C (p.Leu29=)
2	g.201078967T>G	CA350268644	NDUFB3	c.85T>G (p.Leu29Val)
2	g.201078968T>A	CA350268647	NDUFB3	c.86T>A (p.Leu29Ter)
2	g.201078968T>C	CA350268648	NDUFB3	c.86T>C (p.Leu29Ser)
2	g.201078968T>G	CA350268650	NDUFB3	c.86T>G (p.Leu29Ter)
2	g.201078969A>C	CA350268653	NDUFB3	c.87A>C (p.Leu29Phe)
2	g.201078969A>G	CA430608187	NDUFB3	c.87A>G (p.Leu29=)
2	g.201078969A>T	CA350268654	NDUFB3	c.87A>T (p.Leu29Phe)
2	g.201078970G>A	CA350268661	NDUFB3	c.88G>A (p.Glu30Lys)	ClinVar
2	g.201078970G>C	CA350268659	NDUFB3	c.88G>C (p.Glu30Gln)
2	g.201078970G>T	CA350268657	NDUFB3	c.88G>T (p.Glu30Ter)
2	g.201078971A>C	CA350268667	NDUFB3	c.89A>C (p.Glu30Ala)
2	g.201078971A>G	CA350268664	NDUFB3	c.89A>G (p.Glu30Gly)
2	g.201078971A>T	CA350268665	NDUFB3	c.89A>T (p.Glu30Val)
2	g.201078972A>C	CA350268670	NDUFB3	c.90A>C (p.Glu30Asp)
2	g.201078972A>G	CA430608188	NDUFB3	c.90A>G (p.Glu30=)
2	g.201078972A>T	CA350268671	NDUFB3	c.90A>T (p.Glu30Asp)
2	g.201078973A=	CA1320911026	NDUFB3	c.91A= (p.Thr31=)
2	g.201078973A>C	CA350268673	NDUFB3	c.91A>C (p.Thr31Pro)
2	g.201078973A>G	CA350268675	NDUFB3	c.91A>G (p.Thr31Ala)
2	g.201078973A>T	CA350268676	NDUFB3	c.91A>T (p.Thr31Ser)
2	g.201078974C>A	CA350268683	NDUFB3	c.92C>A (p.Thr31Asn)
2	g.201078974C>G	CA350268682	NDUFB3	c.92C>G (p.Thr31Ser)
2	g.201078974C>T	CA350268680	NDUFB3	c.92C>T (p.Thr31Ile)
2	g.201078975_201078978dup	CA2052286	NDUFB3	c.93_96dup (p.Gln33TyrfsTer18)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.201078975T>A	CA430608190	NDUFB3	c.93T>A (p.Thr31=)
2	g.201078975T>C	CA430608189	NDUFB3	c.93T>C (p.Thr31=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.201078975T>G	CA430608191	NDUFB3	c.93T>G (p.Thr31=)
2	g.201078975T=	CA1320911027	NDUFB3	c.93T= (p.Thr31=)
2	g.201078976A>C	CA350268684	NDUFB3	c.94A>C (p.Ile32Leu)
2	g.201078976A>G	CA350268686	NDUFB3	c.94A>G (p.Ile32Val)
2	g.201078976A>T	CA350268687	NDUFB3	c.94A>T (p.Ile32Phe)
2	g.201078977T>A	CA350268689	NDUFB3	c.95T>A (p.Ile32Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.201078977T>C	CA350268692	NDUFB3	c.95T>C (p.Ile32Thr)	gnomAD v4
2	g.201078977T>G	CA350268691	NDUFB3	c.95T>G (p.Ile32Ser)	gnomAD v4
2	g.201078977T=	CA1320911028	NDUFB3	c.95T= (p.Ile32=)
2	g.201078978C>A	CA430608192	NDUFB3	c.96C>A (p.Ile32=)
2	g.201078978C=	CA1320911029	NDUFB3	c.96C= (p.Ile32=)
2	g.201078978C>G	CA2052287	NDUFB3	c.96C>G (p.Ile32Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.201078978C>T	CA430608193	NDUFB3	c.96C>T (p.Ile32=)
2	g.201078979C>A	CA350268696	NDUFB3	c.97C>A (p.Gln33Lys)
2	g.201078979C>G	CA350268698	NDUFB3	c.97C>G (p.Gln33Glu)
2	g.201078979C>T	CA350268700	NDUFB3	c.97C>T (p.Gln33Ter)
2	g.201078980A>C	CA350268703	NDUFB3	c.98A>C (p.Gln33Pro)
2	g.201078980A>G	CA350268705	NDUFB3	c.98A>G (p.Gln33Arg)
2	g.201078980A>T	CA350268708	NDUFB3	c.98A>T (p.Gln33Leu)
2	g.201078981G>A	CA430608194	NDUFB3	c.99G>A (p.Gln33=)	dbSNP gnomAD v3 gnomAD v4
2	g.201078981G>C	CA350268709	NDUFB3	c.99G>C (p.Gln33His)
2	g.201078981G=	CA1320911030	NDUFB3	c.99G= (p.Gln33=)
2	g.201078981G>T	CA350268710	NDUFB3	c.99G>T (p.Gln33His)
2	g.201078982A>C	CA350268711	NDUFB3	c.100A>C (p.Lys34Gln)
2	g.201078982A>G	CA350268712	NDUFB3	c.100A>G (p.Lys34Glu)
2	g.201078982A>T	CA350268713	NDUFB3	c.100A>T (p.Lys34Ter)
2	g.201078983A>C	CA350268715	NDUFB3	c.101A>C (p.Lys34Thr)
2	g.201078983A>G	CA350268716	NDUFB3	c.101A>G (p.Lys34Arg)
2	g.201078983A>T	CA350268714	NDUFB3	c.101A>T (p.Lys34Met)
2	g.201078984G>A	CA430608195	NDUFB3	c.102G>A (p.Lys34=)
2	g.201078984G>C	CA350268717	NDUFB3	c.102G>C (p.Lys34Asn)
2	g.201078984G>T	CA350268718	NDUFB3	c.102G>T (p.Lys34Asn)
2	g.201078985A=	CA1320911031	NDUFB3	c.103A= (p.Lys35=)
2	g.201078985A>C	CA2052288	NDUFB3	c.103A>C (p.Lys35Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.201078985A>G	CA350268719	NDUFB3	c.103A>G (p.Lys35Glu)
2	g.201078985A>T	CA350268720	NDUFB3	c.103A>T (p.Lys35Ter)	dbSNP gnomAD v3 gnomAD v4
2	g.201078986A>C	CA350268721	NDUFB3	c.104A>C (p.Lys35Thr)	gnomAD v4
2	g.201078986A>G	CA350268722	NDUFB3	c.104A>G (p.Lys35Arg)
2	g.201078986A>T	CA350268723	NDUFB3	c.104A>T (p.Lys35Met)
2	g.201078987G>A	CA430608196	NDUFB3	c.105G>A (p.Lys35=)
2	g.201078987G>C	CA350268724	NDUFB3	c.105G>C (p.Lys35Asn)
2	g.201078987G>T	CA350268725	NDUFB3	c.105G>T (p.Lys35Asn)
2	g.201078988C>A	CA350268726	NDUFB3	c.106C>A (p.Leu36Met)
2	g.201078988C=	CA1320911032	NDUFB3	c.106C= (p.Leu36=)
2	g.201078988C>G	CA350268727	NDUFB3	c.106C>G (p.Leu36Val)	dbSNP gnomAD v2 gnomAD v4
2	g.201078988C>T	CA430608197	NDUFB3	c.106C>T (p.Leu36=)
2	g.201078989T>A	CA350268728	NDUFB3	c.107T>A (p.Leu36Gln)
2	g.201078989T>C	CA350268729	NDUFB3	c.107T>C (p.Leu36Pro)
2	g.201078989T>G	CA350268730	NDUFB3	c.107T>G (p.Leu36Arg)
2	g.201078990G>A	CA430608200	NDUFB3	c.108G>A (p.Leu36=)
2	g.201078990G>C	CA430608198	NDUFB3	c.108G>C (p.Leu36=)
2	g.201078990G>T	CA430608199	NDUFB3	c.108G>T (p.Leu36=)
2	g.201078991G>A	CA350268731	NDUFB3	c.109G>A (p.Ala37Thr)
2	g.201078991G>C	CA350268733	NDUFB3	c.109G>C (p.Ala37Pro)
2	g.201078991G>T	CA350268732	NDUFB3	c.109G>T (p.Ala37Ser)
2	g.201078992C>A	CA350268734	NDUFB3	c.110C>A (p.Ala37Asp)
2	g.201078992C>G	CA350268735	NDUFB3	c.110C>G (p.Ala37Gly)
2	g.201078992C>T	CA350268736	NDUFB3	c.110C>T (p.Ala37Val)	COSMIC
2	g.201078993T>A	CA430608201	NDUFB3	c.111T>A (p.Ala37=)
2	g.201078993T>C	CA430608202	NDUFB3	c.111T>C (p.Ala37=)	dbSNP
2	g.201078993T>G	CA430608203	NDUFB3	c.111T>G (p.Ala37=)
2	g.201078993T=	CA1320911033	NDUFB3	c.111T= (p.Ala37=)
2	g.201078994G>A	CA350268737	NDUFB3	c.112G>A (p.Ala38Thr)	dbSNP
2	g.201078994G>C	CA350268738	NDUFB3	c.112G>C (p.Ala38Pro)
2	g.201078994G=	CA1320911034	NDUFB3	c.112G= (p.Ala38=)
2	g.201078994G>T	CA350268739	NDUFB3	c.112G>T (p.Ala38Ser)
2	g.201078994_201078995insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	CA538928165	NDUFB3	c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA (p.Ala38GlyfsTer21)	gnomAD v2 gnomAD v4
2	g.201078995C>A	CA350268740	NDUFB3	c.113C>A (p.Ala38Glu)
2	g.201078995C>G	CA350268741	NDUFB3	c.113C>G (p.Ala38Gly)
2	g.201078995C>T	CA350268742	NDUFB3	c.113C>T (p.Ala38Val)
2	g.201078996A=	CA1320911035	NDUFB3	c.114A= (p.Ala38=)
2	g.201078996A>C	CA430608205	NDUFB3	c.114A>C (p.Ala38=)
2	g.201078996A>G	CA63864306	NDUFB3	c.114A>G (p.Ala38=)	dbSNP
2	g.201078996A>T	CA430608204	NDUFB3	c.114A>T (p.Ala38=)
2	g.201078999del	CA2573131706	NDUFB3	c.117del (p.Leu41Ter)	ClinVar dbSNP gnomAD v4
2	g.201078997A=	CA1320911036	NDUFB3	c.115A= (p.Lys39=)
2	g.201078997A>C	CA350268744	NDUFB3	c.115A>C (p.Lys39Gln)
2	g.201078997A>G	CA2052289	NDUFB3	c.115A>G (p.Lys39Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.201078997A>T	CA350268747	NDUFB3	c.115A>T (p.Lys39Ter)
2	g.201078998A>C	CA350268751	NDUFB3	c.116A>C (p.Lys39Thr)
2	g.201078998A>G	CA350268755	NDUFB3	c.116A>G (p.Lys39Arg)
2	g.201078998A>T	CA350268752	NDUFB3	c.116A>T (p.Lys39Ile)
2	g.201078999A>C	CA350268757	NDUFB3	c.117A>C (p.Lys39Asn)
2	g.201078999A>G	CA430608206	NDUFB3	c.117A>G (p.Lys39=)	gnomAD v4
2	g.201078999A>T	CA350268759	NDUFB3	c.117A>T (p.Lys39Asn)
2	g.201079000G>A	CA350268762	NDUFB3	c.118G>A (p.Gly40Arg)
2	g.201079000G>C	CA350268763	NDUFB3	c.118G>C (p.Gly40Arg)
2	g.201079000G>T	CA350268766	NDUFB3	c.118G>T (p.Gly40Trp)
2	g.201079001G>A	CA350268768	NDUFB3	c.119G>A (p.Gly40Glu)	dbSNP gnomAD v4
2	g.201079001G>C	CA350268770	NDUFB3	c.119G>C (p.Gly40Ala)
2	g.201079001G=	CA1320911037	NDUFB3	c.119G= (p.Gly40=)
2	g.201079001G>T	CA350268772	NDUFB3	c.119G>T (p.Gly40Val)
2	g.201079002G>A	CA430608207	NDUFB3	c.120G>A (p.Gly40=)
2	g.201079002G>C	CA430608208	NDUFB3	c.120G>C (p.Gly40=)
2	g.201079002G=	CA1320911038	NDUFB3	c.120G= (p.Gly40=)
2	g.201079002G>T	CA430608209	NDUFB3	c.120G>T (p.Gly40=)	dbSNP gnomAD v2 gnomAD v4
2	g.201079003C>A	CA350268775	NDUFB3	c.121C>A (p.Leu41Ile)
2	g.201079003C>G	CA350268776	NDUFB3	c.121C>G (p.Leu41Val)
2	g.201079003C>T	CA430608210	NDUFB3	c.121C>T (p.Leu41=)	COSMIC
2	g.201079004T>A	CA350268779	NDUFB3	c.122T>A (p.Leu41Gln)
2	g.201079004T>C	CA350268780	NDUFB3	c.122T>C (p.Leu41Pro)	COSMIC
2	g.201079004T>G	CA350268782	NDUFB3	c.122T>G (p.Leu41Arg)
2	g.201079005A=	CA1320911039	NDUFB3	c.123A= (p.Leu41=)
2	g.201079005A>C	CA430608212	NDUFB3	c.123A>C (p.Leu41=)
2	g.201079005A>G	CA2052290	NDUFB3	c.123A>G (p.Leu41=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.201079005A>T	CA430608211	NDUFB3	c.123A>T (p.Leu41=)
2	g.201079006A>C	CA430608213	NDUFB3	c.124A>C (p.Arg42=)
2	g.201079006A>G	CA350268786	NDUFB3	c.124A>G (p.Arg42Gly)	gnomAD v4
2	g.201079006A>T	CA350268788	NDUFB3	c.124A>T (p.Arg42Trp)
2	g.201079007G>A	CA350268790	NDUFB3	c.125G>A (p.Arg42Lys)	gnomAD v4
2	g.201079007G>C	CA350268792	NDUFB3	c.125G>C (p.Arg42Thr)
2	g.201079007G>T	CA350268794	NDUFB3	c.125G>T (p.Arg42Met)
2	g.201079008G>A	CA430608214	NDUFB3	c.126G>A (p.Arg42=)	dbSNP gnomAD v2 gnomAD v4
2	g.201079008G>C	CA350268795	NDUFB3	c.126G>C (p.Arg42Ser)
2	g.201079008G=	CA1320911040	NDUFB3	c.126G= (p.Arg42=)
2	g.201079008G>T	CA350268797	NDUFB3	c.126G>T (p.Arg42Ser)
2	g.201079009G>A	CA350268800	NDUFB3	c.127G>A (p.Asp43Asn)	gnomAD v4
2	g.201079009G>C	CA350268803	NDUFB3	c.127G>C (p.Asp43His)
2	g.201079009G>T	CA350268807	NDUFB3	c.127G>T (p.Asp43Tyr)
2	g.201079010A>C	CA350268811	NDUFB3	c.128A>C (p.Asp43Ala)
2	g.201079010A>G	CA350268813	NDUFB3	c.128A>G (p.Asp43Gly)
2	g.201079010A>T	CA350268825	NDUFB3	c.128A>T (p.Asp43Val)
2	g.201079011T>A	CA350268829	NDUFB3	c.129T>A (p.Asp43Glu)
2	g.201079011T>C	CA430608215	NDUFB3	c.129T>C (p.Asp43=)
2	g.201079011T>G	CA350268832	NDUFB3	c.129T>G (p.Asp43Glu)
2	g.201079012C>A	CA350268833	NDUFB3	c.130C>A (p.Pro44Thr)
2	g.201079012C>G	CA350268836	NDUFB3	c.130C>G (p.Pro44Ala)
2	g.201079012C>T	CA350268834	NDUFB3	c.130C>T (p.Pro44Ser)
2	g.201079013C>A	CA350268839	NDUFB3	c.131C>A (p.Pro44Gln)
2	g.201079013C>G	CA350268846	NDUFB3	c.131C>G (p.Pro44Arg)
2	g.201079013C>T	CA350268841	NDUFB3	c.131C>T (p.Pro44Leu)
2	g.201079014A>C	CA430608216	NDUFB3	c.132A>C (p.Pro44=)
2	g.201079014A>G	CA430608217	NDUFB3	c.132A>G (p.Pro44=)	gnomAD v4
2	g.201079014A>T	CA430608218	NDUFB3	c.132A>T (p.Pro44=)
2	g.201079015T>A	CA350268849	NDUFB3	c.133T>A (p.Trp45Arg)
2	g.201079015T>C	CA63864330	NDUFB3	c.133T>C (p.Trp45Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.201079015T>G	CA350268852	NDUFB3	c.133T>G (p.Trp45Gly)	gnomAD v4
2	g.201079015T=	CA1320911041	NDUFB3	c.133T= (p.Trp45=)
2	g.201079016G>A	CA350268861	NDUFB3	c.134G>A (p.Trp45Ter)	gnomAD v4
2	g.201079016G>C	CA350268863	NDUFB3	c.134G>C (p.Trp45Ser)
2	g.201079016G>T	CA350268866	NDUFB3	c.134G>T (p.Trp45Leu)
2	g.201079017G>A	CA350268867	NDUFB3	c.135G>A (p.Trp45Ter)
2	g.201079017G>C	CA350268868	NDUFB3	c.135G>C (p.Trp45Cys)
2	g.201079017G>T	CA350268869	NDUFB3	c.135G>T (p.Trp45Cys)
2	g.201079017_201079021delinsGGGCC	CA1320911042	NDUFB3	c.135_139delinsGGGCC (p.Trp45=)
2	g.201079018G>A	CA350268871	NDUFB3	c.136G>A (p.Gly46Ser)	ClinVar dbSNP gnomAD v4
2	g.201079018G>C	CA350268873	NDUFB3	c.136G>C (p.Gly46Arg)
2	g.201079018G=	CA1320911043	NDUFB3	c.136G= (p.Gly46=)
2	g.201079018G>T	CA350268875	NDUFB3	c.136G>T (p.Gly46Cys)
2	g.201079020_201079023del	CA538928166	NDUFB3	c.138_140+1del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.201079019G>A	CA2052291	NDUFB3	c.137G>A (p.Gly46Asp)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.201079019G>C	CA350268879	NDUFB3	c.137G>C (p.Gly46Ala)
2	g.201079019G=	CA1320911044	NDUFB3	c.137G= (p.Gly46=)
2	g.201079019G>T	CA350268882	NDUFB3	c.137G>T (p.Gly46Val)	gnomAD v4
2	g.201079020C>A	CA430608219	NDUFB3	c.138C>A (p.Gly46=)
2	g.201079020C>G	CA430608220	NDUFB3	c.138C>G (p.Gly46=)
2	g.201079020C>T	CA430608221	NDUFB3	c.138C>T (p.Gly46=)
2	g.201079020_201079024delinsCCGGT	CA1320911045	NDUFB3	c.138_140+2delinsCCGGT
2	g.201079021C>A	CA350268893	NDUFB3	c.139C>A (p.Arg47Ser)	ClinVar dbSNP
2	g.201079021C=	CA1320911046	NDUFB3	c.139C= (p.Arg47=)
2	g.201079021C>G	CA350268886	NDUFB3	c.139C>G (p.Arg47Gly)
2	g.201079021C>T	CA2052293	NDUFB3	c.139C>T (p.Arg47Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.201079021_201079024del	CA2052292	NDUFB3	c.139_140+2del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.201079022G>A	CA2052294	NDUFB3	c.140G>A (p.Arg47His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.201079022G>C	CA350268897	NDUFB3	c.140G>C (p.Arg47Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.201079022G=	CA1320911047	NDUFB3	c.140G= (p.Arg47=)
2	g.201079022G>T	CA350268899	NDUFB3	c.140G>T (p.Arg47Leu)
2	g.201079022_201079023insCAATGAAGCTTGGAGATACATGG	CA2662610283	NDUFB3	c.140_140+1insCAATGAAGCTTGGAGATACATGG (p.Gly55AlafsTer?)	gnomAD v4
2	g.201079022_201079023insCAAT	CA2662610285	NDUFB3	c.140_140+1insCAAT (n.140_140+1insCAAT)	dbSNP gnomAD v4
2	g.201079022_201079023insCAATGAAGCTTGGA	CA2701562384	NDUFB3	c.140_140+1insCAATGAAGCTTGGA (n.140_140+1insCAATGAAGCTTGGA)	dbSNP
2	g.201079023G>A	CA350268904	NDUFB3	c.140+1G>A (n.140+1G>A)	dbSNP gnomAD v4
2	g.201079023G>C	CA350268906	NDUFB3	c.140+1G>C (n.140+1G>C)
2	g.201079023G=	CA1320911048	NDUFB3	c.140+1G= (n.140+1G=)
2	g.201079023G>T	CA350268910	NDUFB3	c.140+1G>T (n.140+1G>T)
2	g.201079024T>A	CA350268913	NDUFB3	c.140+2T>A (n.140+2T>A)	dbSNP gnomAD v4
2	g.201079024T>C	CA350268915	NDUFB3	c.140+2T>C (n.140+2T>C)
2	g.201079024T>G	CA350268918	NDUFB3	c.140+2T>G (n.140+2T>G)
2	g.201079024_201079025insGGCTTTGC	CA2662610289	NDUFB3	c.140+2_140+3insGGCTTTGC (n.140+2_140+3insGGCTTTGC)	gnomAD v4
2	g.201079025A>G	CA2662610290	NDUFB3	c.140+3A>G (n.140+3A>G)	gnomAD v4
2	g.201079025_201079026insGCTTGG	CA2662610291	NDUFB3	c.140+3_140+4insGCTTGG (n.140+3_140+4insGCTTGG)	dbSNP gnomAD v4
2	g.201079026A>G	CA2662610292	NDUFB3	c.140+4A>G (n.140+4A>G)	gnomAD v4
2	g.201079027G>C	CA2662610293	NDUFB3	c.140+5G>C (n.140+5G>C)	gnomAD v4
2	g.201079028A>G	CA2753866672	NDUFB3	c.140+6A>G (n.140+6A>G)
2	g.201079029T>C	CA2577209091	NDUFB3	c.140+7T>C (n.140+7T>C)	gnomAD v4
2	g.201079030G>A	CA763302829	NDUFB3	c.140+8G>A (n.140+8G>A)	dbSNP gnomAD v4
2	g.201079030G=	CA1320911049	NDUFB3	c.140+8G= (n.140+8G=)
2	g.201079031A=	CA1320911050	NDUFB3	c.140+9A= (n.140+9A=)
2	g.201079031A>C	CA2701350022	NDUFB3	c.140+9A>C (n.140+9A>C)	dbSNP
2	g.201079031A>G	CA538928167	NDUFB3	c.140+9A>G (n.140+9A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.201079033T>C	CA2662610295	NDUFB3	c.140+11T>C (n.140+11T>C)	gnomAD v4
2	g.201079035A=	CA1320911051	NDUFB3	c.140+13A= (n.140+13A=)
2	g.201079035A>C	CA2052295	NDUFB3	c.140+13A>C (n.140+13A>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.201079036A=	CA1320911052	NDUFB3	c.140+14A= (n.140+14A=)
2	g.201079036A>G	CA2052296	NDUFB3	c.140+14A>G (n.140+14A>G)	dbSNP ExAC
2	g.201079037G>A	CA538928168	NDUFB3	c.140+15G>A (n.140+15G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.201079037G=	CA1320911053	NDUFB3	c.140+15G= (n.140+15G=)
2	g.201079039A=	CA1320911054	NDUFB3	c.140+17A= (n.140+17A=)
2	g.201079039A>G	CA1320911055	NDUFB3	c.140+17A>G (n.140+17A>G)	dbSNP
2	g.201079042_201079046delinsTTAGA	CA1320911056	NDUFB3	c.140+20_140+24delinsTTAGA (n.140+20_140+24delinsTTAGA)
2	g.201079043T>C	CA2662610298	NDUFB3	c.140+21T>C (n.140+21T>C)	gnomAD v4
2	g.201079047_201079050del	CA2052297	NDUFB3	c.140+25_140+28del (n.140+25_140+28del)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.201079045G>C	CA2662610301	NDUFB3	c.140+23G>C (n.140+23G>C)	gnomAD v4

Number of alleles fetched