Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.201085608A>C | CA350270876 | NDUFB3 | c.290A>C (p.His97Pro) | |
2 | g.201085608A>G | CA350270883 | NDUFB3 | c.290A>G (p.His97Arg) | gnomAD v4 |
2 | g.201085608A>T | CA350270880 | NDUFB3 | c.290A>T (p.His97Leu) | |
2 | g.201085609T>A | CA350270888 | NDUFB3 | c.291T>A (p.His97Gln) | |
2 | g.201085609T>C | CA430609494 | NDUFB3 | c.291T>C (p.His97=) | |
2 | g.201085609T>G | CA350270892 | NDUFB3 | c.291T>G (p.His97Gln) | |
2 | g.201085610C>A | CA350270898 | NDUFB3 | c.292C>A (p.His98Asn) | |
2 | g.201085610C>G | CA350270901 | NDUFB3 | c.292C>G (p.His98Asp) | |
2 | g.201085610C>T | CA350270924 | NDUFB3 | c.292C>T (p.His98Tyr) | |
2 | g.201085611A= | CA1320914004 | NDUFB3 | c.293A= (p.His98=) | |
2 | g.201085611A>C | CA350270929 | NDUFB3 | c.293A>C (p.His98Pro) | |
2 | g.201085611A>G | CA350270934 | NDUFB3 | c.293A>G (p.His98Arg) | dbSNP |
2 | g.201085611A>T | CA350270935 | NDUFB3 | c.293A>T (p.His98Leu) | |
2 | g.201085612C>A | CA350270937 | NDUFB3 | c.294C>A (p.His98Gln) | |
2 | g.201085612C= | CA1320914005 | NDUFB3 | c.294C= (p.His98=) | |
2 | g.201085612C>G | CA350270940 | NDUFB3 | c.294C>G (p.His98Gln) | dbSNP |
2 | g.201085612C>T | CA63869211 | NDUFB3 | c.294C>T (p.His98=) | dbSNP |
2 | g.201085613T>A | CA350270946 | NDUFB3 | c.295T>A (p.Ter99Arg) | |
2 | g.201085613T>C | CA350270948 | NDUFB3 | c.295T>C (p.Ter99Arg) | |
2 | g.201085613T>G | CA350270953 | NDUFB3 | c.295T>G (p.Ter99Gly) | |
2 | g.201085614G>A | CA430609515 | NDUFB3 | c.296G>A (p.Ter99=) | |
2 | g.201085614G>C | CA350270958 | NDUFB3 | c.296G>C (p.Ter99Ser) | |
2 | g.201085614G>T | CA350270962 | NDUFB3 | c.296G>T (p.Ter99Leu) | |
2 | g.201085615A>C | CA350270969 | NDUFB3 | c.297A>C (p.Ter99Cys) | |
2 | g.201085615A>G | CA350270972 | NDUFB3 | c.297A>G (p.Ter99Trp) | |
2 | g.201085615A>T | CA350270976 | NDUFB3 | c.297A>T (p.Ter99Cys) | |
2 | g.201085618A>G | CA2577233936 | NDUFB3 | c.*3A>G (n.*3A>G) | gnomAD v4 |
2 | g.201085621A= | CA1320914006 | NDUFB3 | c.*6A= (n.*6A=) | |
2 | g.201085621A>G | CA63869221 | NDUFB3 | c.*6A>G (n.*6A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085623A= | CA1320914007 | NDUFB3 | c.*8A= (n.*8A=) | |
2 | g.201085623A>G | CA2052340 | NDUFB3 | c.*8A>G (n.*8A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085623A>T | CA2577233937 | NDUFB3 | c.*8A>T (n.*8A>T) | gnomAD v4 |
2 | g.201085624C>A | CA2052341 | NDUFB3 | c.*9C>A (n.*9C>A) | dbSNP ExAC gnomAD v2 |
2 | g.201085624C= | CA1320914008 | NDUFB3 | c.*9C= (n.*9C=) | |
2 | g.201085625C>G | CA2662610486 | NDUFB3 | c.*10C>G (n.*10C>G) | gnomAD v4 |
2 | g.201085625C>T | CA2662610487 | NDUFB3 | c.*10C>T (n.*10C>T) | gnomAD v4 |
2 | g.201085626T>C | CA539018665 | NDUFB3 | c.*11T>C (n.*11T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085626T= | CA1320914009 | NDUFB3 | c.*11T= (n.*11T=) | |
2 | g.201085627G>A | CA2662610489 | NDUFB3 | c.*12G>A (n.*12G>A) | gnomAD v4 |
2 | g.201085627G>C | CA2662610488 | NDUFB3 | c.*12G>C (n.*12G>C) | gnomAD v4 |
2 | g.201085630A= | CA1320914010 | NDUFB3 | c.*15A= (n.*15A=) | |
2 | g.201085630A>G | CA2662610490 | NDUFB3 | c.*15A>G (n.*15A>G) | gnomAD v4 |
2 | g.201085630A>T | CA539018666 | NDUFB3 | c.*15A>T (n.*15A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085631G>A | CA2662610491 | NDUFB3 | c.*16G>A (n.*16G>A) | gnomAD v4 |
2 | g.201085632C= | CA1320914011 | NDUFB3 | c.*17C= (n.*17C=) | |
2 | g.201085632C>T | CA1320914012 | NDUFB3 | c.*17C>T (n.*17C>T) | dbSNP |
2 | g.201085635C= | CA1320914013 | NDUFB3 | c.*20C= (n.*20C=) | |
2 | g.201085635C>G | CA2662610492 | NDUFB3 | c.*20C>G (n.*20C>G) | gnomAD v4 |
2 | g.201085635C>T | CA539018667 | NDUFB3 | c.*20C>T (n.*20C>T) | dbSNP gnomAD v2 |
2 | g.201085637T>C | CA2052342 | NDUFB3 | c.*22T>C (n.*22T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085637T= | CA1320914014 | NDUFB3 | c.*22T= (n.*22T=) | |
2 | g.201085638A>G | CA2662610493 | NDUFB3 | c.*23A>G (n.*23A>G) | gnomAD v4 |
2 | g.201085639G>A | CA2662610494 | NDUFB3 | c.*24G>A (n.*24G>A) | gnomAD v4 |
2 | g.201085640T>C | CA2052343 | NDUFB3 | c.*25T>C (n.*25T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085640T= | CA1320914015 | NDUFB3 | c.*25T= (n.*25T=) | |
2 | g.201085641G>T | CA2662610495 | NDUFB3 | c.*26G>T (n.*26G>T) | gnomAD v4 |
2 | g.201085642G>C | CA539018668 | NDUFB3 | c.*27G>C (n.*27G>C) | dbSNP gnomAD v2 |
2 | g.201085642G= | CA1320914016 | NDUFB3 | c.*27G= (n.*27G=) | |
2 | g.201085642_201085643delinsGT | CA1320914017 | NDUFB3 | c.*27_*28delinsGT (n.*27_*28delinsGT) | |
2 | g.201085642_201085643dup | CA2662610496 | NDUFB3 | c.*27_*28dup (n.*27_*28dup) | gnomAD v4 |
2 | g.201085645del | CA1320914018 | NDUFB3 | c.*30del (n.*30del) | dbSNP gnomAD v4 |
2 | g.201085646_201085648del | CA2662610497 | NDUFB3 | c.*31_*33del (n.*31_*33del) | gnomAD v4 |
2 | g.201085647T>C | CA1320914020 | NDUFB3 | c.*32T>C (n.*32T>C) | dbSNP |
2 | g.201085647T= | CA1320914019 | NDUFB3 | c.*32T= (n.*32T=) | |
2 | g.201085649A>C | CA2662610498 | NDUFB3 | c.*34A>C (n.*34A>C) | gnomAD v4 |
2 | g.201085652T>C | CA2662610499 | NDUFB3 | c.*37T>C (n.*37T>C) | gnomAD v4 |
2 | g.201085653C>A | CA2662610500 | NDUFB3 | c.*38C>A (n.*38C>A) | gnomAD v4 |
2 | g.201085654T>A | CA2753866836 | NDUFB3 | c.*39T>A (n.*39T>A) | |
2 | g.201085654T>C | CA2052344 | NDUFB3 | c.*39T>C (n.*39T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085654T= | CA1320914021 | NDUFB3 | c.*39T= (n.*39T=) | |
2 | g.201085655C>A | CA1320914023 | NDUFB3 | c.*40C>A (n.*40C>A) | dbSNP gnomAD v4 |
2 | g.201085655C= | CA1320914022 | NDUFB3 | c.*40C= (n.*40C=) | |
2 | g.201085656del | CA2753866837 | NDUFB3 | c.*41del (n.*41del) | |
2 | g.201085656C>A | CA2662610501 | NDUFB3 | c.*41C>A (n.*41C>A) | gnomAD v4 |
2 | g.201085660del | CA2662610502 | NDUFB3 | c.*45del (n.*45del) | gnomAD v4 |
2 | g.201085658A>G | CA2577233938 | NDUFB3 | c.*43A>G (n.*43A>G) | |
2 | g.201085659_201085660insCACACCCAAC | CA2753866838 | NDUFB3 | c.*44_*45insCACACCCAAC (n.*44_*45insCACACCCAAC) | |
2 | g.201085659_201085660insCACACCCAACAC | CA2753866839 | NDUFB3 | c.*44_*45insCACACCCAACAC (n.*44_*45insCACACCCAACAC) | |
2 | g.201085665A>G | CA2508163413 | NDUFB3 | c.*50A>G (n.*50A>G) | |
2 | g.201085667T>C | CA2577233939 | NDUFB3 | c.*52T>C (n.*52T>C) | |
2 | g.201085672C>G | CA2662610503 | NDUFB3 | c.*57C>G (n.*57C>G) | gnomAD v4 |
2 | g.201085673T>C | CA2662610504 | NDUFB3 | c.*58T>C (n.*58T>C) | gnomAD v4 |
2 | g.201085674C>A | CA2662610505 | NDUFB3 | c.*59C>A (n.*59C>A) | gnomAD v4 |
2 | g.201085674C= | CA1320914024 | NDUFB3 | c.*59C= (n.*59C=) | |
2 | g.201085674C>T | CA63869265 | NDUFB3 | c.*59C>T (n.*59C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085675T>C | CA2662610506 | NDUFB3 | c.*60T>C (n.*60T>C) | gnomAD v4 |
2 | g.201085675T>G | CA2662610507 | NDUFB3 | c.*60T>G (n.*60T>G) | gnomAD v4 |
2 | g.201085676G>A | CA2662610508 | NDUFB3 | c.*61G>A (n.*61G>A) | gnomAD v4 |
2 | g.201085676G= | CA1320914025 | NDUFB3 | c.*61G= (n.*61G=) | |
2 | g.201085676G>T | CA63869274 | NDUFB3 | c.*61G>T (n.*61G>T) | dbSNP |
2 | g.201085677T>C | CA2577233940 | NDUFB3 | c.*62T>C (n.*62T>C) | |
2 | g.201085677T>G | CA63869293 | NDUFB3 | c.*62T>G (n.*62T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085677T= | CA1320914026 | NDUFB3 | c.*62T= (n.*62T=) | |
2 | g.201085678A>G | CA2577233941 | NDUFB3 | c.*63A>G (n.*63A>G) | |
2 | g.201085678A>T | CA2662610509 | NDUFB3 | c.*63A>T (n.*63A>T) | gnomAD v4 |
2 | g.201085679G>A | CA2577233942 | NDUFB3 | c.*64G>A (n.*64G>A) | gnomAD v4 |
2 | g.201085679G>T | CA2662610510 | NDUFB3 | c.*64G>T (n.*64G>T) | gnomAD v4 |
2 | g.201085680C>A | CA1320914028 | NDUFB3 | c.*65C>A (n.*65C>A) | dbSNP gnomAD v4 |
2 | g.201085680C= | CA1320914027 | NDUFB3 | c.*65C= (n.*65C=) | |
2 | g.201085680C>G | CA63869303 | NDUFB3 | c.*65C>G (n.*65C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085680C>T | CA2753866840 | NDUFB3 | c.*65C>T (n.*65C>T) | |
2 | g.201085681C>A | CA2662610511 | NDUFB3 | c.*66C>A (n.*66C>A) | gnomAD v4 |
2 | g.201085681C= | CA1320914029 | NDUFB3 | c.*66C= (n.*66C=) | |
2 | g.201085681C>T | CA63869316 | NDUFB3 | c.*66C>T (n.*66C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085682T>C | CA2662610512 | NDUFB3 | c.*67T>C (n.*67T>C) | gnomAD v4 |
2 | g.201085684del | CA2662610513 | NDUFB3 | c.*69del (n.*69del) | gnomAD v4 |
2 | g.201085684C>A | CA2662610514 | NDUFB3 | c.*69C>A (n.*69C>A) | gnomAD v4 |
2 | g.201085684C= | CA1320914030 | NDUFB3 | c.*69C= (n.*69C=) | |
2 | g.201085684C>G | CA539018669 | NDUFB3 | c.*69C>G (n.*69C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085684C>T | CA1320914031 | NDUFB3 | c.*69C>T (n.*69C>T) | dbSNP gnomAD v4 |
2 | g.201085686T>C | CA63869321 | NDUFB3 | c.*71T>C (n.*71T>C) | dbSNP |
2 | g.201085686T= | CA1320914032 | NDUFB3 | c.*71T= (n.*71T=) | |
2 | g.201085687G>A | CA2662610515 | NDUFB3 | c.*72G>A (n.*72G>A) | gnomAD v4 |
2 | g.201085687G= | CA1320914033 | NDUFB3 | c.*72G= (n.*72G=) | |
2 | g.201085687G>T | CA763305891 | NDUFB3 | c.*72G>T (n.*72G>T) | dbSNP gnomAD v4 |
2 | g.201085688T>A | CA2753866841 | NDUFB3 | c.*73T>A (n.*73T>A) | |
2 | g.201085688T>C | CA1320914035 | NDUFB3 | c.*73T>C (n.*73T>C) | dbSNP gnomAD v4 |
2 | g.201085688T= | CA1320914034 | NDUFB3 | c.*73T= (n.*73T=) | |
2 | g.201085689C>A | CA2662610516 | NDUFB3 | c.*74C>A (n.*74C>A) | gnomAD v4 |
2 | g.201085689C= | CA1320914036 | NDUFB3 | c.*74C= (n.*74C=) | |
2 | g.201085689C>T | CA63869323 | NDUFB3 | c.*74C>T (n.*74C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085691G>T | CA2662610517 | NDUFB3 | c.*76G>T (n.*76G>T) | gnomAD v4 |
2 | g.201085692G>T | CA2662610518 | NDUFB3 | c.*77G>T (n.*77G>T) | gnomAD v4 |
2 | g.201085694T>G | CA2753866842 | NDUFB3 | c.*79T>G (n.*79T>G) | |
2 | g.201085695T>A | CA1041227241 | NDUFB3 | c.*80T>A (n.*80T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085695T= | CA1320914037 | NDUFB3 | c.*80T= (n.*80T=) | |
2 | g.201085696A>G | CA2701555939 | NDUFB3 | c.*81A>G (n.*81A>G) | dbSNP |
2 | g.201085696dup | CA2701555940 | NDUFB3 | c.*81dup (n.*81dup) | dbSNP |
2 | g.201085698C>A | CA2577233943 | NDUFB3 | c.*83C>A (n.*83C>A) | gnomAD v4 |
2 | g.201085698C>T | CA2577233944 | NDUFB3 | c.*83C>T (n.*83C>T) | gnomAD v4 |
2 | g.201085699C>A | CA2662610519 | NDUFB3 | c.*84C>A (n.*84C>A) | gnomAD v4 |
2 | g.201085700C>A | CA2577233945 | NDUFB3 | c.*85C>A (n.*85C>A) | gnomAD v4 |
2 | g.201085700C>G | CA2662610520 | NDUFB3 | c.*85C>G (n.*85C>G) | gnomAD v4 |
2 | g.201085701T>C | CA2662610522 | NDUFB3 | c.*86T>C (n.*86T>C) | gnomAD v4 |
2 | g.201085702del | CA2662610521 | NDUFB3 | c.*87del (n.*87del) | gnomAD v4 |
2 | g.201085702T>C | CA2662610523 | NDUFB3 | c.*87T>C (n.*87T>C) | gnomAD v4 |
2 | g.201085704C>A | CA2662610525 | NDUFB3 | c.*89C>A (n.*89C>A) | gnomAD v4 |
2 | g.201085704C= | CA1320914038 | NDUFB3 | c.*89C= (n.*89C=) | |
2 | g.201085704C>G | CA2662610526 | NDUFB3 | c.*89C>G (n.*89C>G) | gnomAD v4 |
2 | g.201085704C>T | CA1320914039 | NDUFB3 | c.*89C>T (n.*89C>T) | dbSNP gnomAD v4 |
2 | g.201085705A>G | CA2662610527 | NDUFB3 | c.*90A>G (n.*90A>G) | gnomAD v4 |
2 | g.201085706G>A | CA763305896 | NDUFB3 | c.*91G>A (n.*91G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085706G= | CA1320914040 | NDUFB3 | c.*91G= (n.*91G=) | |
2 | g.201085706G>T | CA2662610528 | NDUFB3 | c.*91G>T (n.*91G>T) | gnomAD v4 |
2 | g.201085707A>G | CA2577233946 | NDUFB3 | c.*92A>G (n.*92A>G) | |
2 | g.201085708A>C | CA2662610529 | NDUFB3 | c.*93A>C (n.*93A>C) | gnomAD v4 |