Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.206145009T>ACA350057697NDUFS1c.755A>T (p.Asp252Val)
c.584A>T (p.Asp195Val)
c.422A>T (p.Asp141Val)
c.647A>T (p.Asp216Val)
c.797A>T (p.Asp266Val)
c.407A>T (p.Asp136Val)
c.-5A>T (n.-5A>T)
2g.206145009T>CCA123814NDUFS1c.755A>G (p.Asp252Gly)
c.584A>G (p.Asp195Gly)
c.422A>G (p.Asp141Gly)
c.647A>G (p.Asp216Gly)
c.797A>G (p.Asp266Gly)
c.407A>G (p.Asp136Gly)
c.-5A>G (n.-5A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206145009T>GCA350057701NDUFS1c.755A>C (p.Asp252Ala)
c.584A>C (p.Asp195Ala)
c.422A>C (p.Asp141Ala)
c.647A>C (p.Asp216Ala)
c.797A>C (p.Asp266Ala)
c.407A>C (p.Asp136Ala)
c.-5A>C (n.-5A>C)
2g.206145009T=CA2496487411NDUFS1c.755A= (p.Asp252=)
c.584A= (p.Asp195=)
c.422A= (p.Asp141=)
c.647A= (p.Asp216=)
c.797A= (p.Asp266=)
c.407A= (p.Asp136=)
c.-5A= (n.-5A=)
2g.206145010C>ACA350057710NDUFS1c.754G>T (p.Asp252Tyr)
c.583G>T (p.Asp195Tyr)
c.421G>T (p.Asp141Tyr)
c.646G>T (p.Asp216Tyr)
c.796G>T (p.Asp266Tyr)
c.406G>T (p.Asp136Tyr)
c.-6G>T (n.-6G>T)
 dbSNP gnomAD v4
2g.206145010C=CA2496487412NDUFS1c.754G= (p.Asp252=)
c.583G= (p.Asp195=)
c.421G= (p.Asp141=)
c.646G= (p.Asp216=)
c.796G= (p.Asp266=)
c.406G= (p.Asp136=)
c.-6G= (n.-6G=)
2g.206145010C>GCA350057712NDUFS1c.754G>C (p.Asp252His)
c.583G>C (p.Asp195His)
c.421G>C (p.Asp141His)
c.646G>C (p.Asp216His)
c.796G>C (p.Asp266His)
c.406G>C (p.Asp136His)
c.-6G>C (n.-6G>C)
2g.206145010C>TCA350057715NDUFS1c.754G>A (p.Asp252Asn)
c.583G>A (p.Asp195Asn)
c.421G>A (p.Asp141Asn)
c.646G>A (p.Asp216Asn)
c.796G>A (p.Asp266Asn)
c.406G>A (p.Asp136Asn)
c.-6G>A (n.-6G>A)
 gnomAD v4
2g.206145011A>CCA350057719NDUFS1c.753T>G (p.Ile251Met)
c.582T>G (p.Ile194Met)
c.420T>G (p.Ile140Met)
c.645T>G (p.Ile215Met)
c.795T>G (p.Ile265Met)
c.405T>G (p.Ile135Met)
c.-7T>G (n.-7T>G)
2g.206145011A>GCA430953568NDUFS1c.753T>C (p.Ile251=)
c.582T>C (p.Ile194=)
c.420T>C (p.Ile140=)
c.645T>C (p.Ile215=)
c.795T>C (p.Ile265=)
c.405T>C (p.Ile135=)
c.-7T>C (n.-7T>C)
 gnomAD v4
2g.206145011A>TCA430953570NDUFS1c.753T>A (p.Ile251=)
c.582T>A (p.Ile194=)
c.420T>A (p.Ile140=)
c.645T>A (p.Ile215=)
c.795T>A (p.Ile265=)
c.405T>A (p.Ile135=)
c.-7T>A (n.-7T>A)
2g.206145012A=CA2496487413NDUFS1c.752T= (p.Ile251=)
c.581T= (p.Ile194=)
c.419T= (p.Ile140=)
c.644T= (p.Ile215=)
c.794T= (p.Ile265=)
c.404T= (p.Ile135=)
c.-8T= (n.-8T=)
2g.206145012A>CCA350057728NDUFS1c.752T>G (p.Ile251Ser)
c.581T>G (p.Ile194Ser)
c.419T>G (p.Ile140Ser)
c.644T>G (p.Ile215Ser)
c.794T>G (p.Ile265Ser)
c.404T>G (p.Ile135Ser)
c.-8T>G (n.-8T>G)
2g.206145012A>GCA2070661NDUFS1c.752T>C (p.Ile251Thr)
c.581T>C (p.Ile194Thr)
c.419T>C (p.Ile140Thr)
c.644T>C (p.Ile215Thr)
c.794T>C (p.Ile265Thr)
c.404T>C (p.Ile135Thr)
c.-8T>C (n.-8T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145012A>TCA350057723NDUFS1c.752T>A (p.Ile251Asn)
c.581T>A (p.Ile194Asn)
c.419T>A (p.Ile140Asn)
c.644T>A (p.Ile215Asn)
c.794T>A (p.Ile265Asn)
c.404T>A (p.Ile135Asn)
c.-8T>A (n.-8T>A)
2g.206145013T>ACA350057735NDUFS1c.751A>T (p.Ile251Phe)
c.580A>T (p.Ile194Phe)
c.418A>T (p.Ile140Phe)
c.643A>T (p.Ile215Phe)
c.793A>T (p.Ile265Phe)
c.403A>T (p.Ile135Phe)
c.-9A>T (n.-9A>T)
2g.206145013T>CCA350057737NDUFS1c.751A>G (p.Ile251Val)
c.580A>G (p.Ile194Val)
c.418A>G (p.Ile140Val)
c.643A>G (p.Ile215Val)
c.793A>G (p.Ile265Val)
c.403A>G (p.Ile135Val)
c.-9A>G (n.-9A>G)
2g.206145013T>GCA350057741NDUFS1c.751A>C (p.Ile251Leu)
c.580A>C (p.Ile194Leu)
c.418A>C (p.Ile140Leu)
c.643A>C (p.Ile215Leu)
c.793A>C (p.Ile265Leu)
c.403A>C (p.Ile135Leu)
c.-9A>C (n.-9A>C)
2g.206145014G>ACA430953579NDUFS1c.750C>T (p.Ser250=)
c.579C>T (p.Ser193=)
c.417C>T (p.Ser139=)
c.642C>T (p.Ser214=)
c.792C>T (p.Ser264=)
c.402C>T (p.Ser134=)
c.-10C>T (n.-10C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206145014G>CCA430953580NDUFS1c.750C>G (p.Ser250=)
c.579C>G (p.Ser193=)
c.417C>G (p.Ser139=)
c.642C>G (p.Ser214=)
c.792C>G (p.Ser264=)
c.402C>G (p.Ser134=)
c.-10C>G (n.-10C>G)
 gnomAD v4
2g.206145014G=CA2496487414NDUFS1c.750C= (p.Ser250=)
c.579C= (p.Ser193=)
c.417C= (p.Ser139=)
c.642C= (p.Ser214=)
c.792C= (p.Ser264=)
c.402C= (p.Ser134=)
c.-10C= (n.-10C=)
2g.206145014G>TCA430953585NDUFS1c.750C>A (p.Ser250=)
c.579C>A (p.Ser193=)
c.417C>A (p.Ser139=)
c.642C>A (p.Ser214=)
c.792C>A (p.Ser264=)
c.402C>A (p.Ser134=)
c.-10C>A (n.-10C>A)
2g.206145015G>ACA350057745NDUFS1c.749C>T (p.Ser250Phe)
c.578C>T (p.Ser193Phe)
c.416C>T (p.Ser139Phe)
c.641C>T (p.Ser214Phe)
c.791C>T (p.Ser264Phe)
c.401C>T (p.Ser134Phe)
c.-11C>T (n.-11C>T)
2g.206145015G>CCA350057747NDUFS1c.749C>G (p.Ser250Cys)
c.578C>G (p.Ser193Cys)
c.416C>G (p.Ser139Cys)
c.641C>G (p.Ser214Cys)
c.791C>G (p.Ser264Cys)
c.401C>G (p.Ser134Cys)
c.-11C>G (n.-11C>G)
2g.206145015G>TCA350057751NDUFS1c.749C>A (p.Ser250Tyr)
c.578C>A (p.Ser193Tyr)
c.416C>A (p.Ser139Tyr)
c.641C>A (p.Ser214Tyr)
c.791C>A (p.Ser264Tyr)
c.401C>A (p.Ser134Tyr)
c.-11C>A (n.-11C>A)
2g.206145016A>CCA350057758NDUFS1c.748T>G (p.Ser250Ala)
c.577T>G (p.Ser193Ala)
c.415T>G (p.Ser139Ala)
c.640T>G (p.Ser214Ala)
c.790T>G (p.Ser264Ala)
c.400T>G (p.Ser134Ala)
c.-12T>G (n.-12T>G)
2g.206145016A>GCA350057754NDUFS1c.748T>C (p.Ser250Pro)
c.577T>C (p.Ser193Pro)
c.415T>C (p.Ser139Pro)
c.640T>C (p.Ser214Pro)
c.790T>C (p.Ser264Pro)
c.400T>C (p.Ser134Pro)
c.-12T>C (n.-12T>C)
2g.206145016A>TCA350057756NDUFS1c.748T>A (p.Ser250Thr)
c.577T>A (p.Ser193Thr)
c.415T>A (p.Ser139Thr)
c.640T>A (p.Ser214Thr)
c.790T>A (p.Ser264Thr)
c.400T>A (p.Ser134Thr)
c.-12T>A (n.-12T>A)
2g.206145017T>ACA350057761NDUFS1c.747A>T (p.Glu249Asp)
c.576A>T (p.Glu192Asp)
c.414A>T (p.Glu138Asp)
c.639A>T (p.Glu213Asp)
c.789A>T (p.Glu263Asp)
c.399A>T (p.Glu133Asp)
c.-13A>T (n.-13A>T)
2g.206145017T>CCA430953611NDUFS1c.747A>G (p.Glu249=)
c.576A>G (p.Glu192=)
c.414A>G (p.Glu138=)
c.639A>G (p.Glu213=)
c.789A>G (p.Glu263=)
c.399A>G (p.Glu133=)
c.-13A>G (n.-13A>G)
 gnomAD v4
2g.206145017T>GCA63665108NDUFS1c.747A>C (p.Glu249Asp)
c.576A>C (p.Glu192Asp)
c.414A>C (p.Glu138Asp)
c.639A>C (p.Glu213Asp)
c.789A>C (p.Glu263Asp)
c.399A>C (p.Glu133Asp)
c.-13A>C (n.-13A>C)
 dbSNP
2g.206145017T=CA2496487415NDUFS1c.747A= (p.Glu249=)
c.576A= (p.Glu192=)
c.414A= (p.Glu138=)
c.639A= (p.Glu213=)
c.789A= (p.Glu263=)
c.399A= (p.Glu133=)
c.-13A= (n.-13A=)
2g.206145018T>ACA350057767NDUFS1c.746A>T (p.Glu249Val)
c.575A>T (p.Glu192Val)
c.413A>T (p.Glu138Val)
c.638A>T (p.Glu213Val)
c.788A>T (p.Glu263Val)
c.398A>T (p.Glu133Val)
c.-14A>T (n.-14A>T)
2g.206145018T>CCA350057770NDUFS1c.746A>G (p.Glu249Gly)
c.575A>G (p.Glu192Gly)
c.413A>G (p.Glu138Gly)
c.638A>G (p.Glu213Gly)
c.788A>G (p.Glu263Gly)
c.398A>G (p.Glu133Gly)
c.-14A>G (n.-14A>G)
2g.206145018T>GCA350057774NDUFS1c.746A>C (p.Glu249Ala)
c.575A>C (p.Glu192Ala)
c.413A>C (p.Glu138Ala)
c.638A>C (p.Glu213Ala)
c.788A>C (p.Glu263Ala)
c.398A>C (p.Glu133Ala)
c.-14A>C (n.-14A>C)
2g.206145019C>ACA350057782NDUFS1c.745G>T (p.Glu249Ter)
c.574G>T (p.Glu192Ter)
c.412G>T (p.Glu138Ter)
c.637G>T (p.Glu213Ter)
c.787G>T (p.Glu263Ter)
c.397G>T (p.Glu133Ter)
c.-15G>T (n.-15G>T)
2g.206145019C=CA2496487416NDUFS1c.745G= (p.Glu249=)
c.574G= (p.Glu192=)
c.412G= (p.Glu138=)
c.637G= (p.Glu213=)
c.787G= (p.Glu263=)
c.397G= (p.Glu133=)
c.-15G= (n.-15G=)
2g.206145019C>GCA350057777NDUFS1c.745G>C (p.Glu249Gln)
c.574G>C (p.Glu192Gln)
c.412G>C (p.Glu138Gln)
c.637G>C (p.Glu213Gln)
c.787G>C (p.Glu263Gln)
c.397G>C (p.Glu133Gln)
c.-15G>C (n.-15G>C)
2g.206145019C>TCA350057780NDUFS1c.745G>A (p.Glu249Lys)
c.574G>A (p.Glu192Lys)
c.412G>A (p.Glu138Lys)
c.637G>A (p.Glu213Lys)
c.787G>A (p.Glu263Lys)
c.397G>A (p.Glu133Lys)
c.-15G>A (n.-15G>A)
 dbSNP gnomAD v2
2g.206145020T>ACA430953629NDUFS1c.744A>T (p.Thr248=)
c.573A>T (p.Thr191=)
c.411A>T (p.Thr137=)
c.636A>T (p.Thr212=)
c.786A>T (p.Thr262=)
c.396A>T (p.Thr132=)
c.-16A>T (n.-16A>T)
2g.206145020T>CCA2070662NDUFS1c.744A>G (p.Thr248=)
c.573A>G (p.Thr191=)
c.411A>G (p.Thr137=)
c.636A>G (p.Thr212=)
c.786A>G (p.Thr262=)
c.396A>G (p.Thr132=)
c.-16A>G (n.-16A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145020T>GCA430953635NDUFS1c.744A>C (p.Thr248=)
c.573A>C (p.Thr191=)
c.411A>C (p.Thr137=)
c.636A>C (p.Thr212=)
c.786A>C (p.Thr262=)
c.396A>C (p.Thr132=)
c.-16A>C (n.-16A>C)
2g.206145020T=CA2496487417NDUFS1c.744A= (p.Thr248=)
c.573A= (p.Thr191=)
c.411A= (p.Thr137=)
c.636A= (p.Thr212=)
c.786A= (p.Thr262=)
c.396A= (p.Thr132=)
c.-16A= (n.-16A=)
2g.206145021delCA2662803918NDUFS1c.743del (p.Thr248LysfsTer6)
c.572del (p.Thr191LysfsTer6)
c.410del (p.Thr137LysfsTer6)
c.635del (p.Thr212LysfsTer6)
c.785del (p.Thr262LysfsTer6)
c.395del (p.Thr132LysfsTer6)
c.-17del (n.-17del)
 gnomAD v4
2g.206145021G>ACA350057783NDUFS1c.743C>T (p.Thr248Ile)
c.572C>T (p.Thr191Ile)
c.410C>T (p.Thr137Ile)
c.635C>T (p.Thr212Ile)
c.785C>T (p.Thr262Ile)
c.395C>T (p.Thr132Ile)
c.-17C>T (n.-17C>T)
2g.206145021G>CCA350057784NDUFS1c.743C>G (p.Thr248Arg)
c.572C>G (p.Thr191Arg)
c.410C>G (p.Thr137Arg)
c.635C>G (p.Thr212Arg)
c.785C>G (p.Thr262Arg)
c.395C>G (p.Thr132Arg)
c.-17C>G (n.-17C>G)
2g.206145021G>TCA350057787NDUFS1c.743C>A (p.Thr248Lys)
c.572C>A (p.Thr191Lys)
c.410C>A (p.Thr137Lys)
c.635C>A (p.Thr212Lys)
c.785C>A (p.Thr262Lys)
c.395C>A (p.Thr132Lys)
c.-17C>A (n.-17C>A)
2g.206145022T>ACA350057790NDUFS1c.742A>T (p.Thr248Ser)
c.571A>T (p.Thr191Ser)
c.409A>T (p.Thr137Ser)
c.634A>T (p.Thr212Ser)
c.784A>T (p.Thr262Ser)
c.394A>T (p.Thr132Ser)
c.-18A>T (n.-18A>T)
2g.206145022T>CCA350057792NDUFS1c.742A>G (p.Thr248Ala)
c.571A>G (p.Thr191Ala)
c.409A>G (p.Thr137Ala)
c.634A>G (p.Thr212Ala)
c.784A>G (p.Thr262Ala)
c.394A>G (p.Thr132Ala)
c.-18A>G (n.-18A>G)
 gnomAD v4
2g.206145022T>GCA350057795NDUFS1c.742A>C (p.Thr248Pro)
c.571A>C (p.Thr191Pro)
c.409A>C (p.Thr137Pro)
c.634A>C (p.Thr212Pro)
c.784A>C (p.Thr262Pro)
c.394A>C (p.Thr132Pro)
c.-18A>C (n.-18A>C)

Number of alleles fetched