| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.206144909C>A | CA350056949 | NDUFS1 | c.855G>T (p.Trp285Cys) c.684G>T (p.Trp228Cys) c.522G>T (p.Trp174Cys) c.747G>T (p.Trp249Cys) c.897G>T (p.Trp299Cys) c.507G>T (p.Trp169Cys) c.96G>T (p.Trp32Cys) | |
| 2 | g.206144909C>G | CA350056955 | NDUFS1 | c.855G>C (p.Trp285Cys) c.684G>C (p.Trp228Cys) c.522G>C (p.Trp174Cys) c.747G>C (p.Trp249Cys) c.897G>C (p.Trp299Cys) c.507G>C (p.Trp169Cys) c.96G>C (p.Trp32Cys) | |
| 2 | g.206144909C>T | CA350056963 | NDUFS1 | c.855G>A (p.Trp285Ter) c.684G>A (p.Trp228Ter) c.522G>A (p.Trp174Ter) c.747G>A (p.Trp249Ter) c.897G>A (p.Trp299Ter) c.507G>A (p.Trp169Ter) c.96G>A (p.Trp32Ter) | |
| 2 | g.206144909_206144910del | CA2662803882 | NDUFS1 | c.854_855del (p.Trp285TyrfsTer3) c.683_684del (p.Trp228TyrfsTer3) c.521_522del (p.Trp174TyrfsTer3) c.746_747del (p.Trp249TyrfsTer3) c.896_897del (p.Trp299TyrfsTer3) c.506_507del (p.Trp169TyrfsTer3) c.95_96del (p.Trp32TyrfsTer3) | gnomAD v4 |
| 2 | g.206144910C>A | CA350056966 | NDUFS1 | c.854G>T (p.Trp285Leu) c.683G>T (p.Trp228Leu) c.521G>T (p.Trp174Leu) c.746G>T (p.Trp249Leu) c.896G>T (p.Trp299Leu) c.506G>T (p.Trp169Leu) c.95G>T (p.Trp32Leu) | COSMIC |
| 2 | g.206144910C>G | CA350056969 | NDUFS1 | c.854G>C (p.Trp285Ser) c.683G>C (p.Trp228Ser) c.521G>C (p.Trp174Ser) c.746G>C (p.Trp249Ser) c.896G>C (p.Trp299Ser) c.506G>C (p.Trp169Ser) c.95G>C (p.Trp32Ser) | |
| 2 | g.206144910C>T | CA350056971 | NDUFS1 | c.854G>A (p.Trp285Ter) c.683G>A (p.Trp228Ter) c.521G>A (p.Trp174Ter) c.746G>A (p.Trp249Ter) c.896G>A (p.Trp299Ter) c.506G>A (p.Trp169Ter) c.95G>A (p.Trp32Ter) | |
| 2 | g.206144911A>C | CA350056974 | NDUFS1 | c.853T>G (p.Trp285Gly) c.682T>G (p.Trp228Gly) c.520T>G (p.Trp174Gly) c.745T>G (p.Trp249Gly) c.895T>G (p.Trp299Gly) c.505T>G (p.Trp169Gly) c.94T>G (p.Trp32Gly) | |
| 2 | g.206144911A>G | CA350056976 | NDUFS1 | c.853T>C (p.Trp285Arg) c.682T>C (p.Trp228Arg) c.520T>C (p.Trp174Arg) c.745T>C (p.Trp249Arg) c.895T>C (p.Trp299Arg) c.505T>C (p.Trp169Arg) c.94T>C (p.Trp32Arg) | |
| 2 | g.206144911A>T | CA350056979 | NDUFS1 | c.853T>A (p.Trp285Arg) c.682T>A (p.Trp228Arg) c.520T>A (p.Trp174Arg) c.745T>A (p.Trp249Arg) c.895T>A (p.Trp299Arg) c.505T>A (p.Trp169Arg) c.94T>A (p.Trp32Arg) | |
| 2 | g.206144912del | CA2662803883 | NDUFS1 | c.852del (p.Glu284AspfsTer14) c.681del (p.Glu227AspfsTer14) c.519del (p.Glu173AspfsTer14) c.744del (p.Glu248AspfsTer14) c.894del (p.Glu298AspfsTer14) c.504del (p.Glu168AspfsTer14) c.93del (p.Glu31AspfsTer14) | gnomAD v4 |
| 2 | g.206144912C>A | CA350056983 | NDUFS1 | c.852G>T (p.Glu284Asp) c.681G>T (p.Glu227Asp) c.519G>T (p.Glu173Asp) c.744G>T (p.Glu248Asp) c.894G>T (p.Glu298Asp) c.504G>T (p.Glu168Asp) c.93G>T (p.Glu31Asp) | |
| 2 | g.206144912C>G | CA350056986 | NDUFS1 | c.852G>C (p.Glu284Asp) c.681G>C (p.Glu227Asp) c.519G>C (p.Glu173Asp) c.744G>C (p.Glu248Asp) c.894G>C (p.Glu298Asp) c.504G>C (p.Glu168Asp) c.93G>C (p.Glu31Asp) | |
| 2 | g.206144912C>T | CA430952523 | NDUFS1 | c.852G>A (p.Glu284=) c.681G>A (p.Glu227=) c.519G>A (p.Glu173=) c.744G>A (p.Glu248=) c.894G>A (p.Glu298=) c.504G>A (p.Glu168=) c.93G>A (p.Glu31=) | |
| 2 | g.206144913T>A | CA350056996 | NDUFS1 | c.851A>T (p.Glu284Val) c.680A>T (p.Glu227Val) c.518A>T (p.Glu173Val) c.743A>T (p.Glu248Val) c.893A>T (p.Glu298Val) c.503A>T (p.Glu168Val) c.92A>T (p.Glu31Val) | |
| 2 | g.206144913T>C | CA350056992 | NDUFS1 | c.851A>G (p.Glu284Gly) c.680A>G (p.Glu227Gly) c.518A>G (p.Glu173Gly) c.743A>G (p.Glu248Gly) c.893A>G (p.Glu298Gly) c.503A>G (p.Glu168Gly) c.92A>G (p.Glu31Gly) | |
| 2 | g.206144913T>G | CA350056993 | NDUFS1 | c.851A>C (p.Glu284Ala) c.680A>C (p.Glu227Ala) c.518A>C (p.Glu173Ala) c.743A>C (p.Glu248Ala) c.893A>C (p.Glu298Ala) c.503A>C (p.Glu168Ala) c.92A>C (p.Glu31Ala) | |
| 2 | g.206144914C>A | CA350057001 | NDUFS1 | c.850G>T (p.Glu284Ter) c.679G>T (p.Glu227Ter) c.517G>T (p.Glu173Ter) c.742G>T (p.Glu248Ter) c.892G>T (p.Glu298Ter) c.502G>T (p.Glu168Ter) c.91G>T (p.Glu31Ter) | |
| 2 | g.206144914C>G | CA350057004 | NDUFS1 | c.850G>C (p.Glu284Gln) c.679G>C (p.Glu227Gln) c.517G>C (p.Glu173Gln) c.742G>C (p.Glu248Gln) c.892G>C (p.Glu298Gln) c.502G>C (p.Glu168Gln) c.91G>C (p.Glu31Gln) | |
| 2 | g.206144914C>T | CA350057006 | NDUFS1 | c.850G>A (p.Glu284Lys) c.679G>A (p.Glu227Lys) c.517G>A (p.Glu173Lys) c.742G>A (p.Glu248Lys) c.892G>A (p.Glu298Lys) c.502G>A (p.Glu168Lys) c.91G>A (p.Glu31Lys) | |
| 2 | g.206144915T>A | CA350057011 | NDUFS1 | c.849A>T (p.Glu283Asp) c.678A>T (p.Glu226Asp) c.516A>T (p.Glu172Asp) c.741A>T (p.Glu247Asp) c.891A>T (p.Glu297Asp) c.501A>T (p.Glu167Asp) c.90A>T (p.Glu30Asp) | |
| 2 | g.206144915T>C | CA430952551 | NDUFS1 | c.849A>G (p.Glu283=) c.678A>G (p.Glu226=) c.516A>G (p.Glu172=) c.741A>G (p.Glu247=) c.891A>G (p.Glu297=) c.501A>G (p.Glu167=) c.90A>G (p.Glu30=) | |
| 2 | g.206144915T>G | CA2070646 | NDUFS1 | c.849A>C (p.Glu283Asp) c.678A>C (p.Glu226Asp) c.516A>C (p.Glu172Asp) c.741A>C (p.Glu247Asp) c.891A>C (p.Glu297Asp) c.501A>C (p.Glu167Asp) c.90A>C (p.Glu30Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.206144915T= | CA2496487364 | NDUFS1 | c.849A= (p.Glu283=) c.678A= (p.Glu226=) c.516A= (p.Glu172=) c.741A= (p.Glu247=) c.891A= (p.Glu297=) c.501A= (p.Glu167=) c.90A= (p.Glu30=) | |
| 2 | g.206144916T>A | CA350057017 | NDUFS1 | c.848A>T (p.Glu283Val) c.677A>T (p.Glu226Val) c.515A>T (p.Glu172Val) c.740A>T (p.Glu247Val) c.890A>T (p.Glu297Val) c.500A>T (p.Glu167Val) c.89A>T (p.Glu30Val) | |
| 2 | g.206144916T>C | CA350057021 | NDUFS1 | c.848A>G (p.Glu283Gly) c.677A>G (p.Glu226Gly) c.515A>G (p.Glu172Gly) c.740A>G (p.Glu247Gly) c.890A>G (p.Glu297Gly) c.500A>G (p.Glu167Gly) c.89A>G (p.Glu30Gly) | |
| 2 | g.206144916T>G | CA350057024 | NDUFS1 | c.848A>C (p.Glu283Ala) c.677A>C (p.Glu226Ala) c.515A>C (p.Glu172Ala) c.740A>C (p.Glu247Ala) c.890A>C (p.Glu297Ala) c.500A>C (p.Glu167Ala) c.89A>C (p.Glu30Ala) | |
| 2 | g.206144917C>A | CA350057027 | NDUFS1 | c.847G>T (p.Glu283Ter) c.676G>T (p.Glu226Ter) c.514G>T (p.Glu172Ter) c.739G>T (p.Glu247Ter) c.889G>T (p.Glu297Ter) c.499G>T (p.Glu167Ter) c.88G>T (p.Glu30Ter) | |
| 2 | g.206144917C>G | CA350057030 | NDUFS1 | c.847G>C (p.Glu283Gln) c.676G>C (p.Glu226Gln) c.514G>C (p.Glu172Gln) c.739G>C (p.Glu247Gln) c.889G>C (p.Glu297Gln) c.499G>C (p.Glu167Gln) c.88G>C (p.Glu30Gln) | |
| 2 | g.206144917C>T | CA350057031 | NDUFS1 | c.847G>A (p.Glu283Lys) c.676G>A (p.Glu226Lys) c.514G>A (p.Glu172Lys) c.739G>A (p.Glu247Lys) c.889G>A (p.Glu297Lys) c.499G>A (p.Glu167Lys) c.88G>A (p.Glu30Lys) | COSMIC |
| 2 | g.206144918A>C | CA350057037 | NDUFS1 | c.846T>G (p.Asn282Lys) c.675T>G (p.Asn225Lys) c.513T>G (p.Asn171Lys) c.738T>G (p.Asn246Lys) c.888T>G (p.Asn296Lys) c.498T>G (p.Asn166Lys) c.87T>G (p.Asn29Lys) | |
| 2 | g.206144918A>G | CA430952574 | NDUFS1 | c.846T>C (p.Asn282=) c.675T>C (p.Asn225=) c.513T>C (p.Asn171=) c.738T>C (p.Asn246=) c.888T>C (p.Asn296=) c.498T>C (p.Asn166=) c.87T>C (p.Asn29=) | |
| 2 | g.206144918A>T | CA350057035 | NDUFS1 | c.846T>A (p.Asn282Lys) c.675T>A (p.Asn225Lys) c.513T>A (p.Asn171Lys) c.738T>A (p.Asn246Lys) c.888T>A (p.Asn296Lys) c.498T>A (p.Asn166Lys) c.87T>A (p.Asn29Lys) | |
| 2 | g.206144919T>A | CA350057041 | NDUFS1 | c.845A>T (p.Asn282Ile) c.674A>T (p.Asn225Ile) c.512A>T (p.Asn171Ile) c.737A>T (p.Asn246Ile) c.887A>T (p.Asn296Ile) c.497A>T (p.Asn166Ile) c.86A>T (p.Asn29Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206144919T>C | CA350057045 | NDUFS1 | c.845A>G (p.Asn282Ser) c.674A>G (p.Asn225Ser) c.512A>G (p.Asn171Ser) c.737A>G (p.Asn246Ser) c.887A>G (p.Asn296Ser) c.497A>G (p.Asn166Ser) c.86A>G (p.Asn29Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.206144919T>G | CA350057048 | NDUFS1 | c.845A>C (p.Asn282Thr) c.674A>C (p.Asn225Thr) c.512A>C (p.Asn171Thr) c.737A>C (p.Asn246Thr) c.887A>C (p.Asn296Thr) c.497A>C (p.Asn166Thr) c.86A>C (p.Asn29Thr) | |
| 2 | g.206144919T= | CA2496487365 | NDUFS1 | c.845A= (p.Asn282=) c.674A= (p.Asn225=) c.512A= (p.Asn171=) c.737A= (p.Asn246=) c.887A= (p.Asn296=) c.497A= (p.Asn166=) c.86A= (p.Asn29=) | |
| 2 | g.206144920T>A | CA350057052 | NDUFS1 | c.844A>T (p.Asn282Tyr) c.673A>T (p.Asn225Tyr) c.511A>T (p.Asn171Tyr) c.736A>T (p.Asn246Tyr) c.886A>T (p.Asn296Tyr) c.496A>T (p.Asn166Tyr) c.85A>T (p.Asn29Tyr) | |
| 2 | g.206144920T>C | CA63665020 | NDUFS1 | c.844A>G (p.Asn282Asp) c.673A>G (p.Asn225Asp) c.511A>G (p.Asn171Asp) c.736A>G (p.Asn246Asp) c.886A>G (p.Asn296Asp) c.496A>G (p.Asn166Asp) c.85A>G (p.Asn29Asp) | dbSNP |
| 2 | g.206144920T>G | CA350057057 | NDUFS1 | c.844A>C (p.Asn282His) c.673A>C (p.Asn225His) c.511A>C (p.Asn171His) c.736A>C (p.Asn246His) c.886A>C (p.Asn296His) c.496A>C (p.Asn166His) c.85A>C (p.Asn29His) | |
| 2 | g.206144920T= | CA2496487366 | NDUFS1 | c.844A= (p.Asn282=) c.673A= (p.Asn225=) c.511A= (p.Asn171=) c.736A= (p.Asn246=) c.886A= (p.Asn296=) c.496A= (p.Asn166=) c.85A= (p.Asn29=) | |
| 2 | g.206144921G>A | CA430952606 | NDUFS1 | c.843C>T (p.Ile281=) c.672C>T (p.Ile224=) c.510C>T (p.Ile170=) c.735C>T (p.Ile245=) c.885C>T (p.Ile295=) c.495C>T (p.Ile165=) c.84C>T (p.Ile28=) | gnomAD v4 COSMIC COSMIC |
| 2 | g.206144921G>C | CA350057061 | NDUFS1 | c.843C>G (p.Ile281Met) c.672C>G (p.Ile224Met) c.510C>G (p.Ile170Met) c.735C>G (p.Ile245Met) c.885C>G (p.Ile295Met) c.495C>G (p.Ile165Met) c.84C>G (p.Ile28Met) | |
| 2 | g.206144921G>T | CA430952612 | NDUFS1 | c.843C>A (p.Ile281=) c.672C>A (p.Ile224=) c.510C>A (p.Ile170=) c.735C>A (p.Ile245=) c.885C>A (p.Ile295=) c.495C>A (p.Ile165=) c.84C>A (p.Ile28=) | |
| 2 | g.206144922A>C | CA350057071 | NDUFS1 | c.842T>G (p.Ile281Ser) c.671T>G (p.Ile224Ser) c.509T>G (p.Ile170Ser) c.734T>G (p.Ile245Ser) c.884T>G (p.Ile295Ser) c.494T>G (p.Ile165Ser) c.83T>G (p.Ile28Ser) | |
| 2 | g.206144922A>G | CA350057074 | NDUFS1 | c.842T>C (p.Ile281Thr) c.671T>C (p.Ile224Thr) c.509T>C (p.Ile170Thr) c.734T>C (p.Ile245Thr) c.884T>C (p.Ile295Thr) c.494T>C (p.Ile165Thr) c.83T>C (p.Ile28Thr) | |
| 2 | g.206144922A>T | CA350057077 | NDUFS1 | c.842T>A (p.Ile281Asn) c.671T>A (p.Ile224Asn) c.509T>A (p.Ile170Asn) c.734T>A (p.Ile245Asn) c.884T>A (p.Ile295Asn) c.494T>A (p.Ile165Asn) c.83T>A (p.Ile28Asn) | |
| 2 | g.206144923T>A | CA350057080 | NDUFS1 | c.841A>T (p.Ile281Phe) c.670A>T (p.Ile224Phe) c.508A>T (p.Ile170Phe) c.733A>T (p.Ile245Phe) c.883A>T (p.Ile295Phe) c.493A>T (p.Ile165Phe) c.82A>T (p.Ile28Phe) | |
| 2 | g.206144923T>C | CA350057083 | NDUFS1 | c.841A>G (p.Ile281Val) c.670A>G (p.Ile224Val) c.508A>G (p.Ile170Val) c.733A>G (p.Ile245Val) c.883A>G (p.Ile295Val) c.493A>G (p.Ile165Val) c.82A>G (p.Ile28Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.206144923T>G | CA350057087 | NDUFS1 | c.841A>C (p.Ile281Leu) c.670A>C (p.Ile224Leu) c.508A>C (p.Ile170Leu) c.733A>C (p.Ile245Leu) c.883A>C (p.Ile295Leu) c.493A>C (p.Ile165Leu) c.82A>C (p.Ile28Leu) |