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.67610410del | CA2614647427 | NDUFV1 | c.540del (p.Leu181Ter) c.519del (p.Leu174Ter) n.282del n.399del c.504del (p.Leu169Ter) c.513del (p.Leu172Ter) c.423del (p.Leu142Ter) c.237del (p.Leu80Ter) c.18del (p.Leu7Ter) | gnomAD v4 |
| 11 | g.67610410T>A | CA475412212 | NDUFV1 | c.540T>A (p.Gly180=) c.519T>A (p.Gly173=) n.282T>A n.399T>A c.504T>A (p.Gly168=) c.513T>A (p.Gly171=) c.423T>A (p.Gly141=) c.237T>A (p.Gly79=) c.18T>A (p.Gly6=) | |
| 11 | g.67610410T>C | CA475412210 | NDUFV1 | c.540T>C (p.Gly180=) c.519T>C (p.Gly173=) n.282T>C n.399T>C c.504T>C (p.Gly168=) c.513T>C (p.Gly171=) c.423T>C (p.Gly141=) c.237T>C (p.Gly79=) c.18T>C (p.Gly6=) | |
| 11 | g.67610410T>G | CA475412207 | NDUFV1 | c.540T>G (p.Gly180=) c.519T>G (p.Gly173=) n.282T>G n.399T>G c.504T>G (p.Gly168=) c.513T>G (p.Gly171=) c.423T>G (p.Gly141=) c.237T>G (p.Gly79=) c.18T>G (p.Gly6=) | |
| 11 | g.67610411C>A | CA381536557 | NDUFV1 | c.541C>A (p.Leu181Met) c.520C>A (p.Leu174Met) n.283C>A n.400C>A c.505C>A (p.Leu169Met) c.514C>A (p.Leu172Met) c.424C>A (p.Leu142Met) c.238C>A (p.Leu80Met) c.19C>A (p.Leu7Met) | gnomAD v4 |
| 11 | g.67610411C= | CA1980189781 | NDUFV1 | c.541C= (p.Leu181=) c.520C= (p.Leu174=) n.283C= n.400C= c.505C= (p.Leu169=) c.514C= (p.Leu172=) c.424C= (p.Leu142=) c.238C= (p.Leu80=) c.19C= (p.Leu7=) | |
| 11 | g.67610411C>G | CA381536560 | NDUFV1 | c.541C>G (p.Leu181Val) c.520C>G (p.Leu174Val) n.283C>G n.400C>G c.505C>G (p.Leu169Val) c.514C>G (p.Leu172Val) c.424C>G (p.Leu142Val) c.238C>G (p.Leu80Val) c.19C>G (p.Leu7Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67610411C>T | CA475412219 | NDUFV1 | c.541C>T (p.Leu181=) c.520C>T (p.Leu174=) n.283C>T n.400C>T c.505C>T (p.Leu169=) c.514C>T (p.Leu172=) c.424C>T (p.Leu142=) c.238C>T (p.Leu80=) c.19C>T (p.Leu7=) | |
| 11 | g.67610412T>A | CA381536565 | NDUFV1 | c.542T>A (p.Leu181Gln) c.521T>A (p.Leu174Gln) n.284T>A n.401T>A c.506T>A (p.Leu169Gln) c.515T>A (p.Leu172Gln) c.425T>A (p.Leu142Gln) c.239T>A (p.Leu80Gln) c.20T>A (p.Leu7Gln) | |
| 11 | g.67610412T>C | CA381536568 | NDUFV1 | c.542T>C (p.Leu181Pro) c.521T>C (p.Leu174Pro) n.284T>C n.401T>C c.506T>C (p.Leu169Pro) c.515T>C (p.Leu172Pro) c.425T>C (p.Leu142Pro) c.239T>C (p.Leu80Pro) c.20T>C (p.Leu7Pro) | |
| 11 | g.67610412T>G | CA381536562 | NDUFV1 | c.542T>G (p.Leu181Arg) c.521T>G (p.Leu174Arg) n.284T>G n.401T>G c.506T>G (p.Leu169Arg) c.515T>G (p.Leu172Arg) c.425T>G (p.Leu142Arg) c.239T>G (p.Leu80Arg) c.20T>G (p.Leu7Arg) | |
| 11 | g.67610413G>A | CA475412228 | NDUFV1 | c.543G>A (p.Leu181=) c.522G>A (p.Leu174=) n.285G>A n.402G>A c.507G>A (p.Leu169=) c.516G>A (p.Leu172=) c.426G>A (p.Leu142=) c.240G>A (p.Leu80=) c.21G>A (p.Leu7=) | ClinVar |
| 11 | g.67610413G>C | CA6143209 | NDUFV1 | c.543G>C (p.Leu181=) c.522G>C (p.Leu174=) n.285G>C n.402G>C c.507G>C (p.Leu169=) c.516G>C (p.Leu172=) c.426G>C (p.Leu142=) c.240G>C (p.Leu80=) c.21G>C (p.Leu7=) | dbSNP ExAC gnomAD v2 |
| 11 | g.67610413G= | CA1980189784 | NDUFV1 | c.543G= (p.Leu181=) c.522G= (p.Leu174=) n.285G= n.402G= c.507G= (p.Leu169=) c.516G= (p.Leu172=) c.426G= (p.Leu142=) c.240G= (p.Leu80=) c.21G= (p.Leu7=) | |
| 11 | g.67610413G>T | CA475412233 | NDUFV1 | c.543G>T (p.Leu181=) c.522G>T (p.Leu174=) n.285G>T n.402G>T c.507G>T (p.Leu169=) c.516G>T (p.Leu172=) c.426G>T (p.Leu142=) c.240G>T (p.Leu80=) c.21G>T (p.Leu7=) | |
| 11 | g.67610414A>C | CA381536572 | NDUFV1 | c.544A>C (p.Ile182Leu) c.523A>C (p.Ile175Leu) n.286A>C n.403A>C c.508A>C (p.Ile170Leu) c.517A>C (p.Ile173Leu) c.427A>C (p.Ile143Leu) c.241A>C (p.Ile81Leu) c.22A>C (p.Ile8Leu) | gnomAD v4 |
| 11 | g.67610414A>G | CA381536573 | NDUFV1 | c.544A>G (p.Ile182Val) c.523A>G (p.Ile175Val) n.286A>G n.403A>G c.508A>G (p.Ile170Val) c.517A>G (p.Ile173Val) c.427A>G (p.Ile143Val) c.241A>G (p.Ile81Val) c.22A>G (p.Ile8Val) | gnomAD v4 |
| 11 | g.67610414A>T | CA381536575 | NDUFV1 | c.544A>T (p.Ile182Phe) c.523A>T (p.Ile175Phe) n.286A>T n.403A>T c.508A>T (p.Ile170Phe) c.517A>T (p.Ile173Phe) c.427A>T (p.Ile143Phe) c.241A>T (p.Ile81Phe) c.22A>T (p.Ile8Phe) | |
| 11 | g.67610415T>A | CA381536580 | NDUFV1 | c.545T>A (p.Ile182Asn) c.524T>A (p.Ile175Asn) n.287T>A n.404T>A c.509T>A (p.Ile170Asn) c.518T>A (p.Ile173Asn) c.428T>A (p.Ile143Asn) c.242T>A (p.Ile81Asn) c.23T>A (p.Ile8Asn) | |
| 11 | g.67610415T>C | CA381536582 | NDUFV1 | c.545T>C (p.Ile182Thr) c.524T>C (p.Ile175Thr) n.287T>C n.404T>C c.509T>C (p.Ile170Thr) c.518T>C (p.Ile173Thr) c.428T>C (p.Ile143Thr) c.242T>C (p.Ile81Thr) c.23T>C (p.Ile8Thr) | ClinVar dbSNP |
| 11 | g.67610415T>G | CA381536585 | NDUFV1 | c.545T>G (p.Ile182Ser) c.524T>G (p.Ile175Ser) n.287T>G n.404T>G c.509T>G (p.Ile170Ser) c.518T>G (p.Ile173Ser) c.428T>G (p.Ile143Ser) c.242T>G (p.Ile81Ser) c.23T>G (p.Ile8Ser) | |
| 11 | g.67610416T>A | CA475412246 | NDUFV1 | c.546T>A (p.Ile182=) c.525T>A (p.Ile175=) n.288T>A n.405T>A c.510T>A (p.Ile170=) c.519T>A (p.Ile173=) c.429T>A (p.Ile143=) c.243T>A (p.Ile81=) c.24T>A (p.Ile8=) | |
| 11 | g.67610416T>C | CA475412249 | NDUFV1 | c.546T>C (p.Ile182=) c.525T>C (p.Ile175=) n.288T>C n.405T>C c.510T>C (p.Ile170=) c.519T>C (p.Ile173=) c.429T>C (p.Ile143=) c.243T>C (p.Ile81=) c.24T>C (p.Ile8=) | dbSNP |
| 11 | g.67610416T>G | CA381536588 | NDUFV1 | c.546T>G (p.Ile182Met) c.525T>G (p.Ile175Met) n.288T>G n.405T>G c.510T>G (p.Ile170Met) c.519T>G (p.Ile173Met) c.429T>G (p.Ile143Met) c.243T>G (p.Ile81Met) c.24T>G (p.Ile8Met) | |
| 11 | g.67610416T= | CA1980189787 | NDUFV1 | c.546T= (p.Ile182=) c.525T= (p.Ile175=) n.288T= n.405T= c.510T= (p.Ile170=) c.519T= (p.Ile173=) c.429T= (p.Ile143=) c.243T= (p.Ile81=) c.24T= (p.Ile8=) | |
| 11 | g.67610417G>A | CA381536591 | NDUFV1 | c.547G>A (p.Gly183Ser) c.526G>A (p.Gly176Ser) n.289G>A n.406G>A c.511G>A (p.Gly171Ser) c.520G>A (p.Gly174Ser) c.430G>A (p.Gly144Ser) c.244G>A (p.Gly82Ser) c.25G>A (p.Gly9Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67610417G>C | CA381536594 | NDUFV1 | c.547G>C (p.Gly183Arg) c.526G>C (p.Gly176Arg) n.289G>C n.406G>C c.511G>C (p.Gly171Arg) c.520G>C (p.Gly174Arg) c.430G>C (p.Gly144Arg) c.244G>C (p.Gly82Arg) c.25G>C (p.Gly9Arg) | |
| 11 | g.67610417G= | CA1980189798 | NDUFV1 | c.547G= (p.Gly183=) c.526G= (p.Gly176=) n.289G= n.406G= c.511G= (p.Gly171=) c.520G= (p.Gly174=) c.430G= (p.Gly144=) c.244G= (p.Gly82=) c.25G= (p.Gly9=) | |
| 11 | g.67610417G>T | CA381536595 | NDUFV1 | c.547G>T (p.Gly183Cys) c.526G>T (p.Gly176Cys) n.289G>T n.406G>T c.511G>T (p.Gly171Cys) c.520G>T (p.Gly174Cys) c.430G>T (p.Gly144Cys) c.244G>T (p.Gly82Cys) c.25G>T (p.Gly9Cys) | |
| 11 | g.67610417_67610418del | CA645571733 | NDUFV1 | c.547_548del (p.Gly183GlnfsTer9) c.526_527del (p.Gly176GlnfsTer9) n.289_290del n.406_407del c.511_512del (p.Gly171GlnfsTer?) c.520_521del (p.Gly174GlnfsTer9) c.430_431del (p.Gly144=) c.244_245del (p.Gly82GlnfsTer9) c.526_527del (p.Gly176GlnfsTer?) c.25_26del (p.Gly9GlnfsTer9) | COSMIC |
| 11 | g.67610418G>A | CA381536598 | NDUFV1 | c.548G>A (p.Gly183Asp) c.527G>A (p.Gly176Asp) n.290G>A n.407G>A c.512G>A (p.Gly171Asp) c.521G>A (p.Gly174Asp) c.431G>A (p.Gly144Asp) c.245G>A (p.Gly82Asp) c.26G>A (p.Gly9Asp) | |
| 11 | g.67610418G>C | CA381536601 | NDUFV1 | c.548G>C (p.Gly183Ala) c.527G>C (p.Gly176Ala) n.290G>C n.407G>C c.512G>C (p.Gly171Ala) c.521G>C (p.Gly174Ala) c.431G>C (p.Gly144Ala) c.245G>C (p.Gly82Ala) c.26G>C (p.Gly9Ala) | |
| 11 | g.67610418G>T | CA381536604 | NDUFV1 | c.548G>T (p.Gly183Val) c.527G>T (p.Gly176Val) n.290G>T n.407G>T c.512G>T (p.Gly171Val) c.521G>T (p.Gly174Val) c.431G>T (p.Gly144Val) c.245G>T (p.Gly82Val) c.26G>T (p.Gly9Val) | |
| 11 | g.67610419C>A | CA224180110 | NDUFV1 | c.549C>A (p.Gly183=) c.528C>A (p.Gly176=) n.291C>A n.408C>A c.513C>A (p.Gly171=) c.522C>A (p.Gly174=) c.432C>A (p.Gly144=) c.246C>A (p.Gly82=) c.27C>A (p.Gly9=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67610419C= | CA1980189813 | NDUFV1 | c.549C= (p.Gly183=) c.528C= (p.Gly176=) n.291C= n.408C= c.513C= (p.Gly171=) c.522C= (p.Gly174=) c.432C= (p.Gly144=) c.246C= (p.Gly82=) c.27C= (p.Gly9=) | |
| 11 | g.67610419C>G | CA292517 | NDUFV1 | c.549C>G (p.Gly183=) c.528C>G (p.Gly176=) n.291C>G n.408C>G c.513C>G (p.Gly171=) c.522C>G (p.Gly174=) c.432C>G (p.Gly144=) c.246C>G (p.Gly82=) c.27C>G (p.Gly9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67610419C>T | CA475412267 | NDUFV1 | c.549C>T (p.Gly183=) c.528C>T (p.Gly176=) n.291C>T n.408C>T c.513C>T (p.Gly171=) c.522C>T (p.Gly174=) c.432C>T (p.Gly144=) c.246C>T (p.Gly82=) c.27C>T (p.Gly9=) | gnomAD v4 |
| 11 | g.67610420A>C | CA381536611 | NDUFV1 | c.550A>C (p.Lys184Gln) c.529A>C (p.Lys177Gln) n.292A>C n.409A>C c.514A>C (p.Lys172Gln) c.523A>C (p.Lys175Gln) c.433A>C c.247A>C (p.Lys83Gln) c.28A>C (p.Lys10Gln) | |
| 11 | g.67610420A>G | CA381536613 | NDUFV1 | c.550A>G (p.Lys184Glu) c.529A>G (p.Lys177Glu) n.292A>G n.409A>G c.514A>G (p.Lys172Glu) c.523A>G (p.Lys175Glu) c.433A>G c.247A>G (p.Lys83Glu) c.28A>G (p.Lys10Glu) | |
| 11 | g.67610420A>T | CA381536616 | NDUFV1 | c.550A>T (p.Lys184Ter) c.529A>T (p.Lys177Ter) n.292A>T n.409A>T c.514A>T (p.Lys172Ter) c.523A>T (p.Lys175Ter) c.433A>T c.247A>T (p.Lys83Ter) c.28A>T (p.Lys10Ter) | |
| 11 | g.67610421A>C | CA381536621 | NDUFV1 | c.551A>C (p.Lys184Thr) c.530A>C (p.Lys177Thr) n.293A>C n.410A>C c.515A>C (p.Lys172Thr) c.524A>C (p.Lys175Thr) c.248A>C (p.Lys83Thr) c.29A>C (p.Lys10Thr) | |
| 11 | g.67610421A>G | CA381536624 | NDUFV1 | c.551A>G (p.Lys184Arg) c.530A>G (p.Lys177Arg) n.293A>G n.410A>G c.515A>G (p.Lys172Arg) c.524A>G (p.Lys175Arg) c.248A>G (p.Lys83Arg) c.29A>G (p.Lys10Arg) | |
| 11 | g.67610421A>T | CA381536627 | NDUFV1 | c.551A>T (p.Lys184Met) c.530A>T (p.Lys177Met) n.293A>T n.410A>T c.515A>T (p.Lys172Met) c.524A>T (p.Lys175Met) c.248A>T (p.Lys83Met) c.29A>T (p.Lys10Met) | |
| 11 | g.67610422G>A | CA475412280 | NDUFV1 | c.552G>A (p.Lys184=) c.531G>A (p.Lys177=) n.294G>A n.411G>A c.516G>A (p.Lys172=) c.525G>A (p.Lys175=) c.249G>A (p.Lys83=) c.30G>A (p.Lys10=) | |
| 11 | g.67610422G>C | CA381536630 | NDUFV1 | c.552G>C (p.Lys184Asn) c.531G>C (p.Lys177Asn) n.294G>C n.411G>C c.516G>C (p.Lys172Asn) c.525G>C (p.Lys175Asn) c.249G>C (p.Lys83Asn) c.30G>C (p.Lys10Asn) | COSMIC |
| 11 | g.67610422G>T | CA381536633 | NDUFV1 | c.552G>T (p.Lys184Asn) c.531G>T (p.Lys177Asn) n.294G>T n.411G>T c.516G>T (p.Lys172Asn) c.525G>T (p.Lys175Asn) c.249G>T (p.Lys83Asn) c.30G>T (p.Lys10Asn) | |
| 11 | g.67610423A>C | CA381536636 | NDUFV1 | c.553A>C (p.Asn185His) c.532A>C (p.Asn178His) n.295A>C n.412A>C c.517A>C (p.Asn173His) c.526A>C (p.Asn176His) c.250A>C (p.Asn84His) c.31A>C (p.Asn11His) | |
| 11 | g.67610423A>G | CA381536638 | NDUFV1 | c.553A>G (p.Asn185Asp) c.532A>G (p.Asn178Asp) n.295A>G n.412A>G c.517A>G (p.Asn173Asp) c.526A>G (p.Asn176Asp) c.250A>G (p.Asn84Asp) c.31A>G (p.Asn11Asp) | |
| 11 | g.67610423A>T | CA381536640 | NDUFV1 | c.553A>T (p.Asn185Tyr) c.532A>T (p.Asn178Tyr) n.295A>T n.412A>T c.517A>T (p.Asn173Tyr) c.526A>T (p.Asn176Tyr) c.250A>T (p.Asn84Tyr) c.31A>T (p.Asn11Tyr) | |
| 11 | g.67610424A>C | CA381536645 | NDUFV1 | c.554A>C (p.Asn185Thr) c.533A>C (p.Asn178Thr) n.296A>C n.413A>C c.518A>C (p.Asn173Thr) c.527A>C (p.Asn176Thr) c.251A>C (p.Asn84Thr) c.32A>C (p.Asn11Thr) |