Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.201085425_201085431delinsGTATGAT | CA1320913923 | NDUFB3 | c.141-34_141-28delinsGTATGAT (n.141-34_141-28delinsGTATGAT) | |
2 | g.201085426T>C | CA539018659 | NDUFB3 | c.141-33T>C (n.141-33T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085426T= | CA1320913925 | NDUFB3 | c.141-33T= (n.141-33T=) | |
2 | g.201085429_201085434del | CA1320913924 | NDUFB3 | c.141-30_141-25del (n.141-30_141-25del) | dbSNP |
2 | g.201085427A>C | CA2662610327 | NDUFB3 | c.141-32A>C (n.141-32A>C) | gnomAD v4 |
2 | g.201085427A>G | CA2662610328 | NDUFB3 | c.141-32A>G (n.141-32A>G) | gnomAD v4 |
2 | g.201085428T>C | CA63868898 | NDUFB3 | c.141-31T>C (n.141-31T>C) | dbSNP gnomAD v4 |
2 | g.201085428T= | CA1320913926 | NDUFB3 | c.141-31T= (n.141-31T=) | |
2 | g.201085429G>A | CA539018660 | NDUFB3 | c.141-30G>A (n.141-30G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085429G= | CA1320913927 | NDUFB3 | c.141-30G= (n.141-30G=) | |
2 | g.201085429G>T | CA2662610329 | NDUFB3 | c.141-30G>T (n.141-30G>T) | gnomAD v4 |
2 | g.201085430A>G | CA2662610330 | NDUFB3 | c.141-29A>G (n.141-29A>G) | gnomAD v4 |
2 | g.201085431T>C | CA2662610332 | NDUFB3 | c.141-28T>C (n.141-28T>C) | gnomAD v4 |
2 | g.201085431T>G | CA2662610333 | NDUFB3 | c.141-28T>G (n.141-28T>G) | gnomAD v4 |
2 | g.201085432T>C | CA2662610334 | NDUFB3 | c.141-27T>C (n.141-27T>C) | gnomAD v4 |
2 | g.201085432T>G | CA2662610335 | NDUFB3 | c.141-27T>G (n.141-27T>G) | gnomAD v4 |
2 | g.201085433A= | CA1320913928 | NDUFB3 | c.141-26A= (n.141-26A=) | |
2 | g.201085433A>G | CA2052305 | NDUFB3 | c.141-26A>G (n.141-26A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085433A>T | CA2662610337 | NDUFB3 | c.141-26A>T (n.141-26A>T) | gnomAD v4 |
2 | g.201085434T>C | CA1320913930 | NDUFB3 | c.141-25T>C (n.141-25T>C) | dbSNP gnomAD v4 |
2 | g.201085434T= | CA1320913929 | NDUFB3 | c.141-25T= (n.141-25T=) | |
2 | g.201085435A= | CA1320913931 | NDUFB3 | c.141-24A= (n.141-24A=) | |
2 | g.201085435A>G | CA2052306 | NDUFB3 | c.141-24A>G (n.141-24A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085435A>T | CA2662610338 | NDUFB3 | c.141-24A>T (n.141-24A>T) | gnomAD v4 |
2 | g.201085436A>G | CA2662610343 | NDUFB3 | c.141-23A>G (n.141-23A>G) | gnomAD v4 |
2 | g.201085436_201085437delinsAT | CA1320913932 | NDUFB3 | c.141-23_141-22delinsAT (n.141-23_141-22delinsAT) | |
2 | g.201085437T>A | CA2662610346 | NDUFB3 | c.141-22T>A (n.141-22T>A) | gnomAD v4 |
2 | g.201085437T>C | CA2662610347 | NDUFB3 | c.141-22T>C (n.141-22T>C) | gnomAD v4 |
2 | g.201085442dup | CA2662610344 | NDUFB3 | c.141-17dup (n.141-17dup) | gnomAD v4 |
2 | g.201085442del | CA2052307 | NDUFB3 | c.141-17del (n.141-17del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085443_201085449del | CA2662610345 | NDUFB3 | c.141-16_141-10del (n.141-16_141-10del) | gnomAD v4 |
2 | g.201085438T>G | CA2662610348 | NDUFB3 | c.141-21T>G (n.141-21T>G) | gnomAD v4 |
2 | g.201085439T>C | CA2662610350 | NDUFB3 | c.141-20T>C (n.141-20T>C) | gnomAD v4 |
2 | g.201085440T>G | CA2662610351 | NDUFB3 | c.141-19T>G (n.141-19T>G) | gnomAD v4 |
2 | g.201085441T>A | CA539018661 | NDUFB3 | c.141-18T>A (n.141-18T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085441T>C | CA2662610354 | NDUFB3 | c.141-18T>C (n.141-18T>C) | gnomAD v4 |
2 | g.201085441T= | CA1320913933 | NDUFB3 | c.141-18T= (n.141-18T=) | |
2 | g.201085442T>C | CA2052308 | NDUFB3 | c.141-17T>C (n.141-17T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085442T= | CA1320913934 | NDUFB3 | c.141-17T= (n.141-17T=) | |
2 | g.201085442_201085443delinsTC | CA1320913935 | NDUFB3 | c.141-17_141-16delinsTC (n.141-17_141-16delinsTC) | |
2 | g.201085443_201085444del | CA2662610358 | NDUFB3 | c.141-16_141-15del (n.141-16_141-15del) | gnomAD v4 |
2 | g.201085443del | CA539018662 | NDUFB3 | c.141-16del (n.141-16del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085443C= | CA1320913937 | NDUFB3 | c.141-16C= (n.141-16C=) | |
2 | g.201085443C>T | CA2052313 | NDUFB3 | c.141-16C>T (n.141-16C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.201085443_201085444delinsCT | CA2742039081 | NDUFB3 | c.141-16_141-15delinsCT (n.141-16_141-15delinsCT) | |
2 | g.201085443_201085445delinsCTT | CA1320913936 | NDUFB3 | c.141-16_141-14delinsCTT (n.141-16_141-14delinsCTT) | |
2 | g.201085444T>C | CA63868956 | NDUFB3 | c.141-15T>C (n.141-15T>C) | dbSNP gnomAD v4 |
2 | g.201085444T= | CA1320913938 | NDUFB3 | c.141-15T= (n.141-15T=) | |
2 | g.201085454dup | CA2052310 | NDUFB3 | c.141-5dup (n.141-5dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085453_201085454dup | CA2052312 | NDUFB3 | c.141-6_141-5dup (n.141-6_141-5dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085452_201085454dup | CA539018664 | NDUFB3 | c.141-7_141-5dup (n.141-7_141-5dup) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085451_201085454dup | CA1041227155 | NDUFB3 | c.141-8_141-5dup (n.141-8_141-5dup) | gnomAD v3 gnomAD v4 |
2 | g.201085450_201085454dup | CA2662610394 | NDUFB3 | c.141-9_141-5dup (n.141-9_141-5dup) | gnomAD v4 |
2 | g.201085454del | CA2052309 | NDUFB3 | c.141-5del (n.141-5del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.201085453_201085454del | CA2052311 | NDUFB3 | c.141-6_141-5del (n.141-6_141-5del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085452_201085454del | CA539018663 | NDUFB3 | c.141-7_141-5del (n.141-7_141-5del) | gnomAD v2 gnomAD v4 |
2 | g.201085451_201085454del | CA2662610402 | NDUFB3 | c.141-8_141-5del (n.141-8_141-5del) | gnomAD v4 |
2 | g.201085445T>G | CA63868958 | NDUFB3 | c.141-14T>G (n.141-14T>G) | dbSNP |
2 | g.201085445T= | CA1320913939 | NDUFB3 | c.141-14T= (n.141-14T=) | |
2 | g.201085448T>A | CA2662610417 | NDUFB3 | c.141-11T>A (n.141-11T>A) | gnomAD v4 |
2 | g.201085448T>C | CA2662610419 | NDUFB3 | c.141-11T>C (n.141-11T>C) | gnomAD v4 |
2 | g.201085449T>A | CA1320913941 | NDUFB3 | c.141-10T>A (n.141-10T>A) | dbSNP |
2 | g.201085449T>C | CA2662610420 | NDUFB3 | c.141-10T>C (n.141-10T>C) | gnomAD v4 |
2 | g.201085449T= | CA1320913940 | NDUFB3 | c.141-10T= (n.141-10T=) | |
2 | g.201085450T>C | CA2662610422 | NDUFB3 | c.141-9T>C (n.141-9T>C) | gnomAD v4 |
2 | g.201085452T>C | CA2662610424 | NDUFB3 | c.141-7T>C (n.141-7T>C) | gnomAD v4 |
2 | g.201085453T>C | CA2662610426 | NDUFB3 | c.141-6T>C (n.141-6T>C) | gnomAD v4 |
2 | g.201085454T>C | CA2662610427 | NDUFB3 | c.141-5T>C (n.141-5T>C) | gnomAD v4 |
2 | g.201085455del | CA2662610428 | NDUFB3 | c.141-4del (n.141-4del) | gnomAD v4 |
2 | g.201085455C>A | CA2662610429 | NDUFB3 | c.141-4C>A (n.141-4C>A) | gnomAD v4 |
2 | g.201085455C= | CA1320913942 | NDUFB3 | c.141-4C= (n.141-4C=) | |
2 | g.201085455C>T | CA2052314 | NDUFB3 | c.141-4C>T (n.141-4C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085456T>A | CA63868967 | NDUFB3 | c.141-3T>A (n.141-3T>A) | dbSNP |
2 | g.201085456T>C | CA63868979 | NDUFB3 | c.141-3T>C (n.141-3T>C) | dbSNP gnomAD v4 |
2 | g.201085456T>G | CA2662610437 | NDUFB3 | c.141-3T>G (n.141-3T>G) | gnomAD v4 |
2 | g.201085456T= | CA1320913943 | NDUFB3 | c.141-3T= (n.141-3T=) | |
2 | g.201085457A= | CA1320913944 | NDUFB3 | c.141-2A= (n.141-2A=) | |
2 | g.201085457A>C | CA350269865 | NDUFB3 | c.141-2A>C (n.141-2A>C) | |
2 | g.201085457A>G | CA2052315 | NDUFB3 | c.141-2A>G (n.141-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085457A>T | CA350269866 | NDUFB3 | c.141-2A>T (n.141-2A>T) | gnomAD v3 gnomAD v4 |
2 | g.201085457_201085458del | CA2662610438 | NDUFB3 | c.141-2_141-1del (n.141-2_141-1del) | gnomAD v4 |
2 | g.201085458_201085460del | CA2753866832 | NDUFB3 | c.141-1_142del | |
2 | g.201085457_201085461del | CA2753866833 | NDUFB3 | c.141-2_143del | |
2 | g.201085458_201085461del | CA2662610439 | NDUFB3 | c.141-1_143del | gnomAD v4 |
2 | g.201085457_201085466del | CA2753866834 | NDUFB3 | c.141-2_148del | |
2 | g.201085458G>A | CA350269869 | NDUFB3 | c.141-1G>A (n.141-1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085458G>C | CA350269867 | NDUFB3 | c.141-1G>C (n.141-1G>C) | |
2 | g.201085458G= | CA1320913945 | NDUFB3 | c.141-1G= (n.141-1G=) | |
2 | g.201085458G>T | CA350269868 | NDUFB3 | c.141-1G>T (n.141-1G>T) | gnomAD v3 gnomAD v4 |
2 | g.201085459C>A | CA430609293 | NDUFB3 | c.141C>A (p.Arg47=) | gnomAD v4 |
2 | g.201085459C= | CA1320913946 | NDUFB3 | c.141C= (p.Arg47=) | |
2 | g.201085459C>G | CA430609291 | NDUFB3 | c.141C>G (p.Arg47=) | |
2 | g.201085459C>T | CA430609292 | NDUFB3 | c.141C>T (p.Arg47=) | dbSNP gnomAD v4 |
2 | g.201085460A>C | CA350269870 | NDUFB3 | c.142A>C (p.Asn48His) | gnomAD v4 |
2 | g.201085460A>G | CA350269871 | NDUFB3 | c.142A>G (p.Asn48Asp) | gnomAD v4 |
2 | g.201085460A>T | CA350269872 | NDUFB3 | c.142A>T (p.Asn48Tyr) | |
2 | g.201085461A= | CA1320913947 | NDUFB3 | c.143A= (p.Asn48=) | |
2 | g.201085461A>C | CA350269873 | NDUFB3 | c.143A>C (p.Asn48Thr) | |
2 | g.201085461A>G | CA2052316 | NDUFB3 | c.143A>G (p.Asn48Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085461A>T | CA350269874 | NDUFB3 | c.143A>T (p.Asn48Ile) | |
2 | g.201085462T>A | CA350269875 | NDUFB3 | c.144T>A (p.Asn48Lys) | |
2 | g.201085462T>C | CA430609294 | NDUFB3 | c.144T>C (p.Asn48=) | |
2 | g.201085462T>G | CA350269876 | NDUFB3 | c.144T>G (p.Asn48Lys) | |
2 | g.201085463G>A | CA350269877 | NDUFB3 | c.145G>A (p.Glu49Lys) | gnomAD v4 COSMIC |
2 | g.201085463G>C | CA350269878 | NDUFB3 | c.145G>C (p.Glu49Gln) | |
2 | g.201085463G>T | CA350269879 | NDUFB3 | c.145G>T (p.Glu49Ter) | gnomAD v4 |
2 | g.201085464A>C | CA350269881 | NDUFB3 | c.146A>C (p.Glu49Ala) | |
2 | g.201085464A>G | CA350269882 | NDUFB3 | c.146A>G (p.Glu49Gly) | gnomAD v4 |
2 | g.201085464A>T | CA350269880 | NDUFB3 | c.146A>T (p.Glu49Val) | |
2 | g.201085465A>C | CA350269883 | NDUFB3 | c.147A>C (p.Glu49Asp) | |
2 | g.201085465A>G | CA430609295 | NDUFB3 | c.147A>G (p.Glu49=) | gnomAD v4 |
2 | g.201085465A>T | CA350269884 | NDUFB3 | c.147A>T (p.Glu49Asp) | |
2 | g.201085466G>A | CA350269885 | NDUFB3 | c.148G>A (p.Ala50Thr) | |
2 | g.201085466G>C | CA350269886 | NDUFB3 | c.148G>C (p.Ala50Pro) | |
2 | g.201085466G>T | CA350269887 | NDUFB3 | c.148G>T (p.Ala50Ser) | gnomAD v4 |
2 | g.201085467C>A | CA350269890 | NDUFB3 | c.149C>A (p.Ala50Asp) | gnomAD v4 |
2 | g.201085467C= | CA1320913948 | NDUFB3 | c.149C= (p.Ala50=) | |
2 | g.201085467C>G | CA350269889 | NDUFB3 | c.149C>G (p.Ala50Gly) | |
2 | g.201085467C>T | CA350269888 | NDUFB3 | c.149C>T (p.Ala50Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085468T>A | CA430609296 | NDUFB3 | c.150T>A (p.Ala50=) | |
2 | g.201085468T>C | CA430609297 | NDUFB3 | c.150T>C (p.Ala50=) | |
2 | g.201085468T>G | CA430609298 | NDUFB3 | c.150T>G (p.Ala50=) | |
2 | g.201085469T>A | CA350269891 | NDUFB3 | c.151T>A (p.Trp51Arg) | |
2 | g.201085469T>C | CA350269892 | NDUFB3 | c.151T>C (p.Trp51Arg) | gnomAD v4 |
2 | g.201085469T>G | CA350269893 | NDUFB3 | c.151T>G (p.Trp51Gly) | gnomAD v4 |
2 | g.201085470G>A | CA350269894 | NDUFB3 | c.152G>A (p.Trp51Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085470G>C | CA350269895 | NDUFB3 | c.152G>C (p.Trp51Ser) | |
2 | g.201085470G= | CA1320913949 | NDUFB3 | c.152G= (p.Trp51=) | |
2 | g.201085470G>T | CA350269896 | NDUFB3 | c.152G>T (p.Trp51Leu) | gnomAD v4 |
2 | g.201085471del | CA2662610458 | NDUFB3 | c.153del (p.Trp51Ter) | gnomAD v4 |
2 | g.201085471G>A | CA350269897 | NDUFB3 | c.153G>A (p.Trp51Ter) | dbSNP |
2 | g.201085471G>C | CA350269899 | NDUFB3 | c.153G>C (p.Trp51Cys) | |
2 | g.201085471G= | CA1320913950 | NDUFB3 | c.153G= (p.Trp51=) | |
2 | g.201085471G>T | CA350269898 | NDUFB3 | c.153G>T (p.Trp51Cys) | gnomAD v4 |
2 | g.201085472A= | CA1320913951 | NDUFB3 | c.154A= (p.Arg52=) | |
2 | g.201085472A>C | CA2052317 | NDUFB3 | c.154A>C (p.Arg52=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085472A>G | CA350269900 | NDUFB3 | c.154A>G (p.Arg52Gly) | gnomAD v4 |
2 | g.201085472A>T | CA350269901 | NDUFB3 | c.154A>T (p.Arg52Ter) | |
2 | g.201085473G>A | CA350269902 | NDUFB3 | c.155G>A (p.Arg52Lys) | |
2 | g.201085473G>C | CA350269903 | NDUFB3 | c.155G>C (p.Arg52Thr) | |
2 | g.201085473G>T | CA350269904 | NDUFB3 | c.155G>T (p.Arg52Ile) | |
2 | g.201085474A>C | CA350269905 | NDUFB3 | c.156A>C (p.Arg52Ser) | |
2 | g.201085474A>G | CA430609299 | NDUFB3 | c.156A>G (p.Arg52=) | |
2 | g.201085474A>T | CA350269906 | NDUFB3 | c.156A>T (p.Arg52Ser) | |
2 | g.201085475T>A | CA350269907 | NDUFB3 | c.157T>A (p.Tyr53Asn) | |
2 | g.201085475T>C | CA2052318 | NDUFB3 | c.157T>C (p.Tyr53His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085475T>G | CA350269908 | NDUFB3 | c.157T>G (p.Tyr53Asp) | |
2 | g.201085475T= | CA1320913952 | NDUFB3 | c.157T= (p.Tyr53=) | |
2 | g.201085476A>C | CA350269911 | NDUFB3 | c.158A>C (p.Tyr53Ser) | |
2 | g.201085476A>G | CA350269910 | NDUFB3 | c.158A>G (p.Tyr53Cys) | |
2 | g.201085476A>T | CA350269909 | NDUFB3 | c.158A>T (p.Tyr53Phe) | |
2 | g.201085477_201085478del | CA2662610466 | NDUFB3 | c.159_160del (p.Met54GlyfsTer11) | gnomAD v4 |
2 | g.201085477C>A | CA350269912 | NDUFB3 | c.159C>A (p.Tyr53Ter) | gnomAD v4 |
2 | g.201085477C= | CA1320913953 | NDUFB3 | c.159C= (p.Tyr53=) | |
2 | g.201085477C>G | CA350269913 | NDUFB3 | c.159C>G (p.Tyr53Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085477C>T | CA430609300 | NDUFB3 | c.159C>T (p.Tyr53=) | dbSNP |
2 | g.201085478A= | CA1320913954 | NDUFB3 | c.160A= (p.Met54=) | |
2 | g.201085478A>C | CA350269914 | NDUFB3 | c.160A>C (p.Met54Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085478A>G | CA2052319 | NDUFB3 | c.160A>G (p.Met54Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085478A>T | CA350269915 | NDUFB3 | c.160A>T (p.Met54Leu) | |
2 | g.201085479T>A | CA350269916 | NDUFB3 | c.161T>A (p.Met54Lys) | |
2 | g.201085479T>C | CA350269917 | NDUFB3 | c.161T>C (p.Met54Thr) | gnomAD v4 |
2 | g.201085479T>G | CA350269918 | NDUFB3 | c.161T>G (p.Met54Arg) | |
2 | g.201085480G>A | CA350269921 | NDUFB3 | c.162G>A (p.Met54Ile) | |
2 | g.201085480G>C | CA350269923 | NDUFB3 | c.162G>C (p.Met54Ile) | |
2 | g.201085480G>T | CA350269925 | NDUFB3 | c.162G>T (p.Met54Ile) | gnomAD v4 |
2 | g.201085481G>A | CA63869029 | NDUFB3 | c.163G>A (p.Gly55Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085481G>C | CA350269930 | NDUFB3 | c.163G>C (p.Gly55Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085481G= | CA1320913955 | NDUFB3 | c.163G= (p.Gly55=) | |
2 | g.201085481G>T | CA350269932 | NDUFB3 | c.163G>T (p.Gly55Cys) | gnomAD v4 |
2 | g.201085482G>A | CA350269941 | NDUFB3 | c.164G>A (p.Gly55Asp) | |
2 | g.201085482G>C | CA350269938 | NDUFB3 | c.164G>C (p.Gly55Ala) | gnomAD v4 |
2 | g.201085482G>T | CA350269935 | NDUFB3 | c.164G>T (p.Gly55Val) | |
2 | g.201085483T>A | CA430609301 | NDUFB3 | c.165T>A (p.Gly55=) | |
2 | g.201085483T>C | CA430609303 | NDUFB3 | c.165T>C (p.Gly55=) | |
2 | g.201085483T>G | CA430609302 | NDUFB3 | c.165T>G (p.Gly55=) | |
2 | g.201085484G>A | CA2052320 | NDUFB3 | c.166G>A (p.Gly56Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085484G>C | CA350269945 | NDUFB3 | c.166G>C (p.Gly56Arg) | |
2 | g.201085484G= | CA1320913956 | NDUFB3 | c.166G= (p.Gly56=) | |
2 | g.201085484G>T | CA350269946 | NDUFB3 | c.166G>T (p.Gly56Cys) | gnomAD v4 |
2 | g.201085485G>A | CA350269950 | NDUFB3 | c.167G>A (p.Gly56Asp) | gnomAD v4 |
2 | g.201085485G>C | CA350269952 | NDUFB3 | c.167G>C (p.Gly56Ala) | |
2 | g.201085485G>T | CA350269955 | NDUFB3 | c.167G>T (p.Gly56Val) | gnomAD v4 |
2 | g.201085486C>A | CA430609304 | NDUFB3 | c.168C>A (p.Gly56=) | |
2 | g.201085486C>G | CA430609305 | NDUFB3 | c.168C>G (p.Gly56=) | gnomAD v4 |
2 | g.201085486C>T | CA430609306 | NDUFB3 | c.168C>T (p.Gly56=) | gnomAD v4 |
2 | g.201085487T>A | CA350269959 | NDUFB3 | c.169T>A (p.Phe57Ile) | |
2 | g.201085487T>C | CA350269961 | NDUFB3 | c.169T>C (p.Phe57Leu) | dbSNP |
2 | g.201085487T>G | CA350269963 | NDUFB3 | c.169T>G (p.Phe57Val) | |
2 | g.201085487T= | CA1320913957 | NDUFB3 | c.169T= (p.Phe57=) | |
2 | g.201085489dup | CA2577233932 | NDUFB3 | c.171dup (p.Ala58CysfsTer8) | |
2 | g.201085488T>A | CA350269967 | NDUFB3 | c.170T>A (p.Phe57Tyr) | |
2 | g.201085488T>C | CA350269968 | NDUFB3 | c.170T>C (p.Phe57Ser) | |
2 | g.201085488T>G | CA350269971 | NDUFB3 | c.170T>G (p.Phe57Cys) | |
2 | g.201085489T>A | CA350269974 | NDUFB3 | c.171T>A (p.Phe57Leu) | |
2 | g.201085489T>C | CA430609309 | NDUFB3 | c.171T>C (p.Phe57=) | |
2 | g.201085489T>G | CA350269976 | NDUFB3 | c.171T>G (p.Phe57Leu) | |
2 | g.201085490G>A | CA350269979 | NDUFB3 | c.172G>A (p.Ala58Thr) | |
2 | g.201085490G>C | CA350269982 | NDUFB3 | c.172G>C (p.Ala58Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085490G= | CA1320913958 | NDUFB3 | c.172G= (p.Ala58=) | |
2 | g.201085490G>T | CA350269977 | NDUFB3 | c.172G>T (p.Ala58Ser) | gnomAD v4 |
2 | g.201085491C>A | CA350269985 | NDUFB3 | c.173C>A (p.Ala58Glu) | |
2 | g.201085491C>G | CA350269987 | NDUFB3 | c.173C>G (p.Ala58Gly) | |
2 | g.201085491C>T | CA350269990 | NDUFB3 | c.173C>T (p.Ala58Val) | |
2 | g.201085492A= | CA1320913959 | NDUFB3 | c.174A= (p.Ala58=) | |
2 | g.201085492A>C | CA430609311 | NDUFB3 | c.174A>C (p.Ala58=) | |
2 | g.201085492A>G | CA2052321 | NDUFB3 | c.174A>G (p.Ala58=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085492A>T | CA430609310 | NDUFB3 | c.174A>T (p.Ala58=) | |
2 | g.201085493A>C | CA350269994 | NDUFB3 | c.175A>C (p.Lys59Gln) | |
2 | g.201085493A>G | CA350269997 | NDUFB3 | c.175A>G (p.Lys59Glu) | |
2 | g.201085493A>T | CA350269998 | NDUFB3 | c.175A>T (p.Lys59Ter) | |
2 | g.201085493_201085495delinsAAG | CA1320913960 | NDUFB3 | c.175_177delinsAAG (p.Lys59=) | |
2 | g.201085494A>C | CA350270002 | NDUFB3 | c.176A>C (p.Lys59Thr) | |
2 | g.201085494A>G | CA350270004 | NDUFB3 | c.176A>G (p.Lys59Arg) | |
2 | g.201085494A>T | CA350270006 | NDUFB3 | c.176A>T (p.Lys59Met) | |
2 | g.201085496_201085497del | CA1041227187 | NDUFB3 | c.178_179del (p.Ser60CysfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085495G>A | CA2052322 | NDUFB3 | c.177G>A (p.Lys59=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085495G>C | CA350270010 | NDUFB3 | c.177G>C (p.Lys59Asn) | ClinVar dbSNP |
2 | g.201085495G= | CA1320913961 | NDUFB3 | c.177G= (p.Lys59=) | |
2 | g.201085495G>T | CA350270013 | NDUFB3 | c.177G>T (p.Lys59Asn) | |
2 | g.201085496A>C | CA350270020 | NDUFB3 | c.178A>C (p.Ser60Arg) | |
2 | g.201085496A>G | CA350270015 | NDUFB3 | c.178A>G (p.Ser60Gly) | |
2 | g.201085496A>T | CA350270018 | NDUFB3 | c.178A>T (p.Ser60Cys) | |
2 | g.201085496_201085497delinsAG | CA1320913962 | NDUFB3 | c.178_179delinsAG (p.Ser60=) | |
2 | g.201085497del | CA1320913963 | NDUFB3 | c.179del (p.Ser60MetfsTer21) c.179del (p.Ser60MetfsTer?) | dbSNP |
2 | g.201085497G>A | CA350270028 | NDUFB3 | c.179G>A (p.Ser60Asn) | |
2 | g.201085497G>C | CA350270030 | NDUFB3 | c.179G>C (p.Ser60Thr) | dbSNP |
2 | g.201085497G= | CA1320913964 | NDUFB3 | c.179G= (p.Ser60=) | |
2 | g.201085497G>T | CA350270033 | NDUFB3 | c.179G>T (p.Ser60Ile) | |
2 | g.201085498del | CA2662610479 | NDUFB3 | c.180del (p.Ser60ArgfsTer21) c.180del (p.Ser60ArgfsTer?) | gnomAD v4 |
2 | g.201085498T>A | CA350270036 | NDUFB3 | c.180T>A (p.Ser60Arg) | |
2 | g.201085498T>C | CA2052323 | NDUFB3 | c.180T>C (p.Ser60=) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
2 | g.201085498T>G | CA350270040 | NDUFB3 | c.180T>G (p.Ser60Arg) | |
2 | g.201085498T= | CA1320913965 | NDUFB3 | c.180T= (p.Ser60=) | |
2 | g.201085499G>A | CA350270043 | NDUFB3 | c.181G>A (p.Val61Ile) | gnomAD v4 |
2 | g.201085499G>C | CA350270046 | NDUFB3 | c.181G>C (p.Val61Leu) | |
2 | g.201085499G>T | CA350270053 | NDUFB3 | c.181G>T (p.Val61Phe) | |
2 | g.201085500T>A | CA350270057 | NDUFB3 | c.182T>A (p.Val61Asp) | |
2 | g.201085500T>C | CA2052324 | NDUFB3 | c.182T>C (p.Val61Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085500T>G | CA350270060 | NDUFB3 | c.182T>G (p.Val61Gly) | |
2 | g.201085500T= | CA1320913966 | NDUFB3 | c.182T= (p.Val61=) | |
2 | g.201085501T>A | CA430609312 | NDUFB3 | c.183T>A (p.Val61=) | dbSNP |
2 | g.201085501T>C | CA430609313 | NDUFB3 | c.183T>C (p.Val61=) | |
2 | g.201085501T>G | CA430609314 | NDUFB3 | c.183T>G (p.Val61=) | |
2 | g.201085501T= | CA1320913967 | NDUFB3 | c.183T= (p.Val61=) | |
2 | g.201085502T>A | CA350270062 | NDUFB3 | c.184T>A (p.Ser62Thr) | |
2 | g.201085502T>C | CA350270067 | NDUFB3 | c.184T>C (p.Ser62Pro) | |
2 | g.201085502T>G | CA350270065 | NDUFB3 | c.184T>G (p.Ser62Ala) | |
2 | g.201085503C>A | CA350270070 | NDUFB3 | c.185C>A (p.Ser62Tyr) | |
2 | g.201085503C= | CA1320913968 | NDUFB3 | c.185C= (p.Ser62=) | |
2 | g.201085503C>G | CA350270075 | NDUFB3 | c.185C>G (p.Ser62Cys) | |
2 | g.201085503C>T | CA350270072 | NDUFB3 | c.185C>T (p.Ser62Phe) | dbSNP gnomAD v4 COSMIC |
2 | g.201085504C>A | CA430609315 | NDUFB3 | c.186C>A (p.Ser62=) | gnomAD v4 |
2 | g.201085504C>G | CA430609317 | NDUFB3 | c.186C>G (p.Ser62=) | |
2 | g.201085504C>T | CA430609316 | NDUFB3 | c.186C>T (p.Ser62=) | |
2 | g.201085505T>A | CA350270079 | NDUFB3 | c.187T>A (p.Phe63Ile) | |
2 | g.201085505T>C | CA350270081 | NDUFB3 | c.187T>C (p.Phe63Leu) | |
2 | g.201085505T>G | CA350270084 | NDUFB3 | c.187T>G (p.Phe63Val) | |
2 | g.201085506T>A | CA350270086 | NDUFB3 | c.188T>A (p.Phe63Tyr) | |
2 | g.201085506T>C | CA350270089 | NDUFB3 | c.188T>C (p.Phe63Ser) | |
2 | g.201085506T>G | CA350270091 | NDUFB3 | c.188T>G (p.Phe63Cys) | |
2 | g.201085507T>A | CA350270094 | NDUFB3 | c.189T>A (p.Phe63Leu) | |
2 | g.201085507T>C | CA430609318 | NDUFB3 | c.189T>C (p.Phe63=) | |
2 | g.201085507T>G | CA350270097 | NDUFB3 | c.189T>G (p.Phe63Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085507T= | CA1320913969 | NDUFB3 | c.189T= (p.Phe63=) | |
2 | g.201085508T>A | CA350270099 | NDUFB3 | c.190T>A (p.Ser64Thr) | |
2 | g.201085508T>C | CA350270101 | NDUFB3 | c.190T>C (p.Ser64Pro) | |
2 | g.201085508T>G | CA350270103 | NDUFB3 | c.190T>G (p.Ser64Ala) | |
2 | g.201085509C>A | CA350270112 | NDUFB3 | c.191C>A (p.Ser64Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085509C= | CA1320913970 | NDUFB3 | c.191C= (p.Ser64=) | |
2 | g.201085509C>G | CA350270110 | NDUFB3 | c.191C>G (p.Ser64Cys) | gnomAD v4 |
2 | g.201085509C>T | CA350270108 | NDUFB3 | c.191C>T (p.Ser64Phe) | gnomAD v4 |
2 | g.201085510T>A | CA430609319 | NDUFB3 | c.192T>A (p.Ser64=) | |
2 | g.201085510T>C | CA430609320 | NDUFB3 | c.192T>C (p.Ser64=) | gnomAD v4 |
2 | g.201085510T>G | CA430609321 | NDUFB3 | c.192T>G (p.Ser64=) | |
2 | g.201085511G>A | CA350270115 | NDUFB3 | c.193G>A (p.Asp65Asn) | |
2 | g.201085511G>C | CA350270118 | NDUFB3 | c.193G>C (p.Asp65His) | dbSNP |
2 | g.201085511G= | CA1320913971 | NDUFB3 | c.193G= (p.Asp65=) | |
2 | g.201085511G>T | CA350270120 | NDUFB3 | c.193G>T (p.Asp65Tyr) | gnomAD v4 |
2 | g.201085512A>C | CA350270123 | NDUFB3 | c.194A>C (p.Asp65Ala) | |
2 | g.201085512A>G | CA350270125 | NDUFB3 | c.194A>G (p.Asp65Gly) | |
2 | g.201085512A>T | CA350270128 | NDUFB3 | c.194A>T (p.Asp65Val) | |
2 | g.201085513T>A | CA350270131 | NDUFB3 | c.195T>A (p.Asp65Glu) | |
2 | g.201085513T>C | CA430609322 | NDUFB3 | c.195T>C (p.Asp65=) | gnomAD v4 |
2 | g.201085513T>G | CA350270133 | NDUFB3 | c.195T>G (p.Asp65Glu) | |
2 | g.201085514G>A | CA350270135 | NDUFB3 | c.196G>A (p.Val66Ile) | |
2 | g.201085514G>C | CA350270137 | NDUFB3 | c.196G>C (p.Val66Leu) | |
2 | g.201085514G= | CA1320913972 | NDUFB3 | c.196G= (p.Val66=) | |
2 | g.201085514G>T | CA350270139 | NDUFB3 | c.196G>T (p.Val66Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085515T>A | CA350270147 | NDUFB3 | c.197T>A (p.Val66Glu) | |
2 | g.201085515T>C | CA350270145 | NDUFB3 | c.197T>C (p.Val66Ala) | |
2 | g.201085515T>G | CA350270142 | NDUFB3 | c.197T>G (p.Val66Gly) | |
2 | g.201085516A>C | CA430609323 | NDUFB3 | c.198A>C (p.Val66=) | |
2 | g.201085516A>G | CA430609324 | NDUFB3 | c.198A>G (p.Val66=) | |
2 | g.201085516A>T | CA430609325 | NDUFB3 | c.198A>T (p.Val66=) | |
2 | g.201085516_201085517delinsAT | CA1320913973 | NDUFB3 | c.198_199delinsAT (p.Val66=) | |
2 | g.201085517T>A | CA350270149 | NDUFB3 | c.199T>A (p.Phe67Ile) | |
2 | g.201085517T>C | CA350270152 | NDUFB3 | c.199T>C (p.Phe67Leu) | |
2 | g.201085517T>G | CA350270154 | NDUFB3 | c.199T>G (p.Phe67Val) | |
2 | g.201085518del | CA658796143 | NDUFB3 | c.200del (p.Phe67SerfsTer14) | ClinVar dbSNP |
2 | g.201085518T>A | CA350270157 | NDUFB3 | c.200T>A (p.Phe67Tyr) | |
2 | g.201085518T>C | CA350270158 | NDUFB3 | c.200T>C (p.Phe67Ser) | |
2 | g.201085518T>G | CA350270164 | NDUFB3 | c.200T>G (p.Phe67Cys) | |
2 | g.201085518_201085519delinsTC | CA1320913974 | NDUFB3 | c.200_201delinsTC (p.Phe67=) | |
2 | g.201085519del | CA2052325 | NDUFB3 | c.201del (p.Phe68LeufsTer13) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085519C>A | CA2052326 | NDUFB3 | c.201C>A (p.Phe67Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.201085519C= | CA1320913975 | NDUFB3 | c.201C= (p.Phe67=) | |
2 | g.201085519C>G | CA350270168 | NDUFB3 | c.201C>G (p.Phe67Leu) | |
2 | g.201085519C>T | CA430609326 | NDUFB3 | c.201C>T (p.Phe67=) | gnomAD v4 |
2 | g.201085520T>A | CA350270177 | NDUFB3 | c.202T>A (p.Phe68Ile) | |
2 | g.201085520T>C | CA350270180 | NDUFB3 | c.202T>C (p.Phe68Leu) | |
2 | g.201085520T>G | CA350270182 | NDUFB3 | c.202T>G (p.Phe68Val) | |
2 | g.201085522del | CA350270184 | NDUFB3 | c.204del (p.Phe68LeufsTer13) | |
2 | g.201085522_201085530dup | CA2052327 | NDUFB3 | c.204_212dup (p.Phe71_Lys72insLysGlyPhe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085521T>A | CA350270188 | NDUFB3 | c.203T>A (p.Phe68Tyr) | |
2 | g.201085521T>C | CA350270192 | NDUFB3 | c.203T>C (p.Phe68Ser) | |
2 | g.201085521T>G | CA350270190 | NDUFB3 | c.203T>G (p.Phe68Cys) | |
2 | g.201085522T>A | CA350270195 | NDUFB3 | c.204T>A (p.Phe68Leu) | |
2 | g.201085522T>C | CA430609327 | NDUFB3 | c.204T>C (p.Phe68=) | |
2 | g.201085522T>G | CA350270197 | NDUFB3 | c.204T>G (p.Phe68Leu) | |
2 | g.201085523A>C | CA350270200 | NDUFB3 | c.205A>C (p.Lys69Gln) | |
2 | g.201085523A>G | CA350270202 | NDUFB3 | c.205A>G (p.Lys69Glu) | |
2 | g.201085523A>T | CA350270204 | NDUFB3 | c.205A>T (p.Lys69Ter) | |
2 | g.201085524A>C | CA350270207 | NDUFB3 | c.206A>C (p.Lys69Thr) | |
2 | g.201085524A>G | CA350270209 | NDUFB3 | c.206A>G (p.Lys69Arg) | |
2 | g.201085524A>T | CA350270211 | NDUFB3 | c.206A>T (p.Lys69Ile) | |
2 | g.201085525A= | CA1320913976 | NDUFB3 | c.207A= (p.Lys69=) | |
2 | g.201085525A>C | CA350270215 | NDUFB3 | c.207A>C (p.Lys69Asn) | |
2 | g.201085525A>G | CA430609328 | NDUFB3 | c.207A>G (p.Lys69=) | dbSNP |
2 | g.201085525A>T | CA350270217 | NDUFB3 | c.207A>T (p.Lys69Asn) | |
2 | g.201085526G>A | CA350270231 | NDUFB3 | c.208G>A (p.Gly70Arg) | |
2 | g.201085526G>C | CA350270229 | NDUFB3 | c.208G>C (p.Gly70Arg) | |
2 | g.201085526G= | CA1320913977 | NDUFB3 | c.208G= (p.Gly70=) | |
2 | g.201085526G>T | CA130617 | NDUFB3 | c.208G>T (p.Gly70Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |