UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67610510G>A | CA123738 | NDUFV1 | c.640G>A (p.Glu214Lys) c.619G>A (p.Glu207Lys) n.382G>A n.499G>A c.613G>A (p.Glu205Lys) c.337G>A (p.Glu113Lys) c.118G>A (p.Glu40Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67610510G>C | CA381537107 | NDUFV1 | c.640G>C (p.Glu214Gln) c.619G>C (p.Glu207Gln) n.382G>C n.499G>C c.613G>C (p.Glu205Gln) c.337G>C (p.Glu113Gln) c.118G>C (p.Glu40Gln) | gnomAD v4 |
| 11 | g.67610510G= | CA1980190036 | NDUFV1 | c.640G= (p.Glu214=) c.619G= (p.Glu207=) n.382G= n.499G= c.613G= (p.Glu205=) c.337G= (p.Glu113=) c.118G= (p.Glu40=) | |
| 11 | g.67610510G>T | CA381537108 | NDUFV1 | c.640G>T (p.Glu214Ter) c.619G>T (p.Glu207Ter) n.382G>T n.499G>T c.613G>T (p.Glu205Ter) c.337G>T (p.Glu113Ter) c.118G>T (p.Glu40Ter) | |
| 11 | g.67610511A>C | CA381537110 | NDUFV1 | c.641A>C (p.Glu214Ala) c.620A>C (p.Glu207Ala) n.383A>C n.500A>C c.614A>C (p.Glu205Ala) c.338A>C (p.Glu113Ala) c.119A>C (p.Glu40Ala) | |
| 11 | g.67610511A>G | CA381537113 | NDUFV1 | c.641A>G (p.Glu214Gly) c.620A>G (p.Glu207Gly) n.383A>G n.500A>G c.614A>G (p.Glu205Gly) c.338A>G (p.Glu113Gly) c.119A>G (p.Glu40Gly) | gnomAD v4 |
| 11 | g.67610511A>T | CA381537114 | NDUFV1 | c.641A>T (p.Glu214Val) c.620A>T (p.Glu207Val) n.383A>T n.500A>T c.614A>T (p.Glu205Val) c.338A>T (p.Glu113Val) c.119A>T (p.Glu40Val) | |
| 11 | g.67610512G>A | CA475412771 | NDUFV1 | c.642G>A (p.Glu214=) c.621G>A (p.Glu207=) n.384G>A n.501G>A c.615G>A (p.Glu205=) c.339G>A (p.Glu113=) c.120G>A (p.Glu40=) | |
| 11 | g.67610512G>C | CA381537117 | NDUFV1 | c.642G>C (p.Glu214Asp) c.621G>C (p.Glu207Asp) n.384G>C n.501G>C c.615G>C (p.Glu205Asp) c.339G>C (p.Glu113Asp) c.120G>C (p.Glu40Asp) | |
| 11 | g.67610512G>T | CA381537124 | NDUFV1 | c.642G>T (p.Glu214Asp) c.621G>T (p.Glu207Asp) n.384G>T n.501G>T c.615G>T (p.Glu205Asp) c.339G>T (p.Glu113Asp) c.120G>T (p.Glu40Asp) | |
| 11 | g.67610513T>A | CA381537127 | NDUFV1 | c.643T>A (p.Ser215Thr) c.622T>A (p.Ser208Thr) n.385T>A n.502T>A c.616T>A (p.Ser206Thr) c.340T>A (p.Ser114Thr) c.121T>A (p.Ser41Thr) | |
| 11 | g.67610513T>C | CA381537137 | NDUFV1 | c.643T>C (p.Ser215Pro) c.622T>C (p.Ser208Pro) n.385T>C n.502T>C c.616T>C (p.Ser206Pro) c.340T>C (p.Ser114Pro) c.121T>C (p.Ser41Pro) | |
| 11 | g.67610513T>G | CA381537134 | NDUFV1 | c.643T>G (p.Ser215Ala) c.622T>G (p.Ser208Ala) n.385T>G n.502T>G c.616T>G (p.Ser206Ala) c.340T>G (p.Ser114Ala) c.121T>G (p.Ser41Ala) | |
| 11 | g.67610514C>A | CA381537141 | NDUFV1 | c.644C>A (p.Ser215Tyr) c.623C>A (p.Ser208Tyr) n.386C>A n.503C>A c.617C>A (p.Ser206Tyr) c.341C>A (p.Ser114Tyr) c.122C>A (p.Ser41Tyr) | |
| 11 | g.67610514C>G | CA381537143 | NDUFV1 | c.644C>G (p.Ser215Cys) c.623C>G (p.Ser208Cys) n.386C>G n.503C>G c.617C>G (p.Ser206Cys) c.341C>G (p.Ser114Cys) c.122C>G (p.Ser41Cys) | |
| 11 | g.67610514C>T | CA381537146 | NDUFV1 | c.644C>T (p.Ser215Phe) c.623C>T (p.Ser208Phe) n.386C>T n.503C>T c.617C>T (p.Ser206Phe) c.341C>T (p.Ser114Phe) c.122C>T (p.Ser41Phe) | |
| 11 | g.67610515C>A | CA475412795 | NDUFV1 | c.645C>A (p.Ser215=) c.624C>A (p.Ser208=) n.387C>A n.504C>A c.618C>A (p.Ser206=) c.342C>A (p.Ser114=) c.123C>A (p.Ser41=) | |
| 11 | g.67610515C= | CA1980190039 | NDUFV1 | c.645C= (p.Ser215=) c.624C= (p.Ser208=) n.387C= n.504C= c.618C= (p.Ser206=) c.342C= (p.Ser114=) c.123C= (p.Ser41=) | |
| 11 | g.67610515C>G | CA475412792 | NDUFV1 | c.645C>G (p.Ser215=) c.624C>G (p.Ser208=) n.387C>G n.504C>G c.618C>G (p.Ser206=) c.342C>G (p.Ser114=) c.123C>G (p.Ser41=) | |
| 11 | g.67610515C>T | CA475412790 | NDUFV1 | c.645C>T (p.Ser215=) c.624C>T (p.Ser208=) n.387C>T n.504C>T c.618C>T (p.Ser206=) c.342C>T (p.Ser114=) c.123C>T (p.Ser41=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67610516A= | CA1980190041 | NDUFV1 | c.646A= (p.Ile216=) c.625A= (p.Ile209=) n.388A= n.505A= c.619A= (p.Ile207=) c.343A= (p.Ile115=) c.124A= (p.Ile42=) | |
| 11 | g.67610516A>C | CA381537150 | NDUFV1 | c.646A>C (p.Ile216Leu) c.625A>C (p.Ile209Leu) n.388A>C n.505A>C c.619A>C (p.Ile207Leu) c.343A>C (p.Ile115Leu) c.124A>C (p.Ile42Leu) | dbSNP |
| 11 | g.67610516A>G | CA381537156 | NDUFV1 | c.646A>G (p.Ile216Val) c.625A>G (p.Ile209Val) n.388A>G n.505A>G c.619A>G (p.Ile207Val) c.343A>G (p.Ile115Val) c.124A>G (p.Ile42Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67610516A>T | CA381537159 | NDUFV1 | c.646A>T (p.Ile216Phe) c.625A>T (p.Ile209Phe) n.388A>T n.505A>T c.619A>T (p.Ile207Phe) c.343A>T (p.Ile115Phe) c.124A>T (p.Ile42Phe) | |
| 11 | g.67610517T>A | CA381537162 | NDUFV1 | c.647T>A (p.Ile216Asn) c.626T>A (p.Ile209Asn) n.389T>A n.506T>A c.620T>A (p.Ile207Asn) c.344T>A (p.Ile115Asn) c.125T>A (p.Ile42Asn) | |
| 11 | g.67610517T>C | CA6143231 | NDUFV1 | c.647T>C (p.Ile216Thr) c.626T>C (p.Ile209Thr) n.389T>C n.506T>C c.620T>C (p.Ile207Thr) c.344T>C (p.Ile115Thr) c.125T>C (p.Ile42Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67610517T>G | CA381537167 | NDUFV1 | c.647T>G (p.Ile216Ser) c.626T>G (p.Ile209Ser) n.389T>G n.506T>G c.620T>G (p.Ile207Ser) c.344T>G (p.Ile115Ser) c.125T>G (p.Ile42Ser) | |
| 11 | g.67610517T= | CA1980190044 | NDUFV1 | c.647T= (p.Ile216=) c.626T= (p.Ile209=) n.389T= n.506T= c.620T= (p.Ile207=) c.344T= (p.Ile115=) c.125T= (p.Ile42=) | |
| 11 | g.67610518T>A | CA475412806 | NDUFV1 | c.648T>A (p.Ile216=) c.627T>A (p.Ile209=) n.390T>A n.507T>A c.621T>A (p.Ile207=) c.345T>A (p.Ile115=) c.126T>A (p.Ile42=) | |
| 11 | g.67610518T>C | CA224180266 | NDUFV1 | c.648T>C (p.Ile216=) c.627T>C (p.Ile209=) n.390T>C n.507T>C c.621T>C (p.Ile207=) c.345T>C (p.Ile115=) c.126T>C (p.Ile42=) | ClinVar dbSNP |
| 11 | g.67610518T>G | CA381537173 | NDUFV1 | c.648T>G (p.Ile216Met) c.627T>G (p.Ile209Met) n.390T>G n.507T>G c.621T>G (p.Ile207Met) c.345T>G (p.Ile115Met) c.126T>G (p.Ile42Met) | |
| 11 | g.67610518T= | CA1980190048 | NDUFV1 | c.648T= (p.Ile216=) c.627T= (p.Ile209=) n.390T= n.507T= c.621T= (p.Ile207=) c.345T= (p.Ile115=) c.126T= (p.Ile42=) | |
| 11 | g.67610519G>A | CA381537177 | NDUFV1 | c.649G>A (p.Glu217Lys) c.628G>A (p.Glu210Lys) n.391G>A n.508G>A c.622G>A (p.Glu208Lys) c.346G>A (p.Glu116Lys) c.127G>A (p.Glu43Lys) | |
| 11 | g.67610519G>C | CA381537176 | NDUFV1 | c.649G>C (p.Glu217Gln) c.628G>C (p.Glu210Gln) n.391G>C n.508G>C c.622G>C (p.Glu208Gln) c.346G>C (p.Glu116Gln) c.127G>C (p.Glu43Gln) | |
| 11 | g.67610519G>T | CA381537175 | NDUFV1 | c.649G>T (p.Glu217Ter) c.628G>T (p.Glu210Ter) n.391G>T n.508G>T c.622G>T (p.Glu208Ter) c.346G>T (p.Glu116Ter) c.127G>T (p.Glu43Ter) | |
| 11 | g.67610519_67610528delinsGAGGGCAAGC | CA1980190052 | NDUFV1 | c.649_658delinsGAGGGCAAGC (p.Glu217=) c.628_637delinsGAGGGCAAGC (p.Glu210=) n.391_400delinsGAGGGCAAGC n.508_517delinsGAGGGCAAGC c.622_631delinsGAGGGCAAGC (p.Glu208=) c.346_355delinsGAGGGCAAGC (p.Glu116=) c.127_136delinsGAGGGCAAGC (p.Glu43=) | |
| 11 | g.67610520A= | CA1980190062 | NDUFV1 | c.650A= (p.Glu217=) c.629A= (p.Glu210=) n.392A= n.509A= c.623A= (p.Glu208=) c.347A= (p.Glu116=) c.128A= (p.Glu43=) | |
| 11 | g.67610520A>C | CA381537179 | NDUFV1 | c.650A>C (p.Glu217Ala) c.629A>C (p.Glu210Ala) n.392A>C n.509A>C c.623A>C (p.Glu208Ala) c.347A>C (p.Glu116Ala) c.128A>C (p.Glu43Ala) | |
| 11 | g.67610520A>G | CA381537181 | NDUFV1 | c.650A>G (p.Glu217Gly) c.629A>G (p.Glu210Gly) n.392A>G n.509A>G c.623A>G (p.Glu208Gly) c.347A>G (p.Glu116Gly) c.128A>G (p.Glu43Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67610520A>T | CA381537183 | NDUFV1 | c.650A>T (p.Glu217Val) c.629A>T (p.Glu210Val) n.392A>T n.509A>T c.623A>T (p.Glu208Val) c.347A>T (p.Glu116Val) c.128A>T (p.Glu43Val) | |
| 11 | g.67610529_67610537dup | CA6143232 | NDUFV1 | c.659_667dup (p.Lys222_Pro223insGlnGlyLys) c.638_646dup (p.Lys215_Pro216insGlnGlyLys) n.401_409dup n.518_526dup c.632_640dup (p.Lys213_Pro214insGlnGlyLys) c.356_364dup (p.Lys121_Pro122insGlnGlyLys) c.137_145dup (p.Lys48_Pro49insGlnGlyLys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67610529_67610537del | CA600237134 | NDUFV1 | c.659_667del (p.Gln220_Lys222del) c.638_646del (p.Gln213_Lys215del) n.401_409del n.518_526del c.632_640del (p.Gln211_Lys213del) c.356_364del (p.Gln119_Lys121del) c.137_145del (p.Gln46_Lys48del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67610521G>A | CA475412823 | NDUFV1 | c.651G>A (p.Glu217=) c.630G>A (p.Glu210=) n.393G>A n.510G>A c.624G>A (p.Glu208=) c.348G>A (p.Glu116=) c.129G>A (p.Glu43=) | |
| 11 | g.67610521G>C | CA381537184 | NDUFV1 | c.651G>C (p.Glu217Asp) c.630G>C (p.Glu210Asp) n.393G>C n.510G>C c.624G>C (p.Glu208Asp) c.348G>C (p.Glu116Asp) c.129G>C (p.Glu43Asp) | |
| 11 | g.67610521G>T | CA381537185 | NDUFV1 | c.651G>T (p.Glu217Asp) c.630G>T (p.Glu210Asp) n.393G>T n.510G>T c.624G>T (p.Glu208Asp) c.348G>T (p.Glu116Asp) c.129G>T (p.Glu43Asp) | |
| 11 | g.67610522G>A | CA381537189 | NDUFV1 | c.652G>A (p.Gly218Ser) c.631G>A (p.Gly211Ser) n.394G>A n.511G>A c.625G>A (p.Gly209Ser) c.349G>A (p.Gly117Ser) c.130G>A (p.Gly44Ser) | dbSNP |
| 11 | g.67610522G>C | CA381537191 | NDUFV1 | c.652G>C (p.Gly218Arg) c.631G>C (p.Gly211Arg) n.394G>C n.511G>C c.625G>C (p.Gly209Arg) c.349G>C (p.Gly117Arg) c.130G>C (p.Gly44Arg) | |
| 11 | g.67610522G= | CA1980190067 | NDUFV1 | c.652G= (p.Gly218=) c.631G= (p.Gly211=) n.394G= n.511G= c.625G= (p.Gly209=) c.349G= (p.Gly117=) c.130G= (p.Gly44=) | |
| 11 | g.67610522G>T | CA381537194 | NDUFV1 | c.652G>T (p.Gly218Cys) c.631G>T (p.Gly211Cys) n.394G>T n.511G>T c.625G>T (p.Gly209Cys) c.349G>T (p.Gly117Cys) c.130G>T (p.Gly44Cys) | |
| 11 | g.67610523G>A | CA381537197 | NDUFV1 | c.653G>A (p.Gly218Asp) c.632G>A (p.Gly211Asp) n.395G>A n.512G>A c.626G>A (p.Gly209Asp) c.350G>A (p.Gly117Asp) c.131G>A (p.Gly44Asp) | gnomAD v4 |