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 |
|---|---|---|---|---|---|
| 1 | g.17027750_17028737del | CA645509076 | SDHB | c.117_369+1del c.246_498+1del c.288_540+1del n.205_458del n.276_474+1del | ClinVar |
| 1 | g.17028636A>C | CA416087615 | SDHB | c.216T>G (p.Pro72=) c.345T>G (p.Pro115=) c.387T>G (p.Pro129=) n.304T>G n.357+18T>G | |
| 1 | g.17028636A>G | CA416087613 | SDHB | c.216T>C (p.Pro72=) c.345T>C (p.Pro115=) c.387T>C (p.Pro129=) n.304T>C n.357+18T>C | |
| 1 | g.17028636A>T | CA416087614 | SDHB | c.216T>A (p.Pro72=) c.345T>A (p.Pro115=) c.387T>A (p.Pro129=) n.304T>A n.357+18T>A | |
| 1 | g.17028637G>A | CA338274280 | SDHB | c.215C>T (p.Pro72Leu) c.344C>T (p.Pro115Leu) c.386C>T (p.Pro129Leu) n.303C>T n.357+17C>T | gnomAD v4 |
| 1 | g.17028637G>C | CA015807 | SDHB | c.215C>G (p.Pro72Arg) c.344C>G (p.Pro115Arg) c.386C>G (p.Pro129Arg) n.303C>G n.357+17C>G | ClinVar dbSNP COSMIC |
| 1 | g.17028637G= | CA1148224198 | SDHB | c.215C= (p.Pro72=) c.344C= (p.Pro115=) c.386C= (p.Pro129=) n.303C= n.357+17C= | |
| 1 | g.17028637G>T | CA338274287 | SDHB | c.215C>A (p.Pro72His) c.344C>A (p.Pro115His) c.386C>A (p.Pro129His) n.303C>A n.357+17C>A | |
| 1 | g.17028638G>A | CA338274290 | SDHB | c.214C>T (p.Pro72Ser) c.343C>T (p.Pro115Ser) c.385C>T (p.Pro129Ser) n.302C>T n.357+16C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.17028638G>C | CA338274293 | SDHB | c.214C>G (p.Pro72Ala) c.343C>G (p.Pro115Ala) c.385C>G (p.Pro129Ala) n.302C>G n.357+16C>G | ClinVar dbSNP |
| 1 | g.17028638G= | CA1156080490 | SDHB | c.214C= (p.Pro72=) c.343C= (p.Pro115=) c.385C= (p.Pro129=) n.302C= n.357+16C= | |
| 1 | g.17028638G>T | CA338274306 | SDHB | c.214C>A (p.Pro72Thr) c.343C>A (p.Pro115Thr) c.385C>A (p.Pro129Thr) n.302C>A n.357+16C>A | ClinVar |
| 1 | g.17028639G>A | CA416087632 | SDHB | c.213C>T (p.Tyr71=) c.342C>T (p.Tyr114=) c.384C>T (p.Tyr128=) n.301C>T n.357+15C>T | dbSNP gnomAD v4 |
| 1 | g.17028639G>C | CA338274311 | SDHB | c.213C>G (p.Tyr71Ter) c.342C>G (p.Tyr114Ter) c.384C>G (p.Tyr128Ter) n.301C>G n.357+15C>G | COSMIC |
| 1 | g.17028639G>T | CA338274313 | SDHB | c.213C>A (p.Tyr71Ter) c.342C>A (p.Tyr114Ter) c.384C>A (p.Tyr128Ter) n.301C>A n.357+15C>A | ClinVar |
| 1 | g.17028640T>A | CA338274314 | SDHB | c.212A>T (p.Tyr71Phe) c.341A>T (p.Tyr114Phe) c.383A>T (p.Tyr128Phe) n.300A>T n.357+14A>T | ClinVar gnomAD v4 |
| 1 | g.17028640T>C | CA089601 | SDHB | c.212A>G (p.Tyr71Cys) c.341A>G (p.Tyr114Cys) c.383A>G (p.Tyr128Cys) n.300A>G n.357+14A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17028640T>G | CA338274317 | SDHB | c.212A>C (p.Tyr71Ser) c.341A>C (p.Tyr114Ser) c.383A>C (p.Tyr128Ser) n.300A>C n.357+14A>C | ClinVar |
| 1 | g.17028640T= | CA1156080491 | SDHB | c.212A= (p.Tyr71=) c.341A= (p.Tyr114=) c.383A= (p.Tyr128=) n.300A= n.357+14A= | |
| 1 | g.17028641A>C | CA338274328 | SDHB | c.211T>G (p.Tyr71Asp) c.340T>G (p.Tyr114Asp) c.382T>G (p.Tyr128Asp) n.299T>G n.357+13T>G | |
| 1 | g.17028641A>G | CA338274321 | SDHB | c.211T>C (p.Tyr71His) c.340T>C (p.Tyr114His) c.382T>C (p.Tyr128His) n.299T>C n.357+13T>C | |
| 1 | g.17028641A>T | CA338274327 | SDHB | c.211T>A (p.Tyr71Asn) c.340T>A (p.Tyr114Asn) c.382T>A (p.Tyr128Asn) n.299T>A n.357+13T>A | |
| 1 | g.17028642G>A | CA416087646 | SDHB | c.210C>T (p.Ile70=) c.339C>T (p.Ile113=) c.381C>T (p.Ile127=) n.298C>T n.357+12C>T | gnomAD v4 |
| 1 | g.17028642G>C | CA338274330 | SDHB | c.210C>G (p.Ile70Met) c.339C>G (p.Ile113Met) c.381C>G (p.Ile127Met) n.298C>G n.357+12C>G | |
| 1 | g.17028642G>T | CA416087649 | SDHB | c.210C>A (p.Ile70=) c.339C>A (p.Ile113=) c.381C>A (p.Ile127=) n.298C>A n.357+12C>A | |
| 1 | g.17028643A= | CA1156080492 | SDHB | c.209T= (p.Ile70=) c.338T= (p.Ile113=) c.380T= (p.Ile127=) n.297T= n.357+11T= | |
| 1 | g.17028643A>C | CA015797 | SDHB | c.209T>G (p.Ile70Ser) c.338T>G (p.Ile113Ser) c.380T>G (p.Ile127Ser) n.297T>G n.357+11T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17028643A>G | CA338274344 | SDHB | c.209T>C (p.Ile70Thr) c.338T>C (p.Ile113Thr) c.380T>C (p.Ile127Thr) n.297T>C n.357+11T>C | |
| 1 | g.17028643A>T | CA338274352 | SDHB | c.209T>A (p.Ile70Asn) c.338T>A (p.Ile113Asn) c.380T>A (p.Ile127Asn) n.297T>A n.357+11T>A | |
| 1 | g.17028644T>A | CA338274354 | SDHB | c.208A>T (p.Ile70Phe) c.337A>T (p.Ile113Phe) c.379A>T (p.Ile127Phe) n.296A>T n.357+10A>T | |
| 1 | g.17028644T>C | CA338274355 | SDHB | c.208A>G (p.Ile70Val) c.337A>G (p.Ile113Val) c.379A>G (p.Ile127Val) n.296A>G n.357+10A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.17028644T>G | CA16609924 | SDHB | c.208A>C (p.Ile70Leu) c.337A>C (p.Ile113Leu) c.379A>C (p.Ile127Leu) n.296A>C n.357+10A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17028644T= | CA1143478094 | SDHB | c.208A= (p.Ile70=) c.337A= (p.Ile113=) c.379A= (p.Ile127=) n.296A= n.357+10A= | |
| 1 | g.17028648dup | CA658655535 | SDHB | c.208dup (p.Ile70AsnfsTer28) c.337dup (p.Ile113AsnfsTer28) c.379dup (p.Ile127AsnfsTer28) n.296dup n.357+10dup | ClinVar dbSNP |
| 1 | g.17028645T>A | CA338274369 | SDHB | c.207A>T (p.Lys69Asn) c.336A>T (p.Lys112Asn) c.378A>T (p.Lys126Asn) n.295A>T n.357+9A>T | |
| 1 | g.17028645T>C | CA416087659 | SDHB | c.207A>G (p.Lys69=) c.336A>G (p.Lys112=) c.378A>G (p.Lys126=) n.295A>G n.357+9A>G | |
| 1 | g.17028645T>G | CA338274360 | SDHB | c.207A>C (p.Lys69Asn) c.336A>C (p.Lys112Asn) c.378A>C (p.Lys126Asn) n.295A>C n.357+9A>C | |
| 1 | g.17028646T>A | CA338274372 | SDHB | c.206A>T (p.Lys69Ile) c.335A>T (p.Lys112Ile) c.377A>T (p.Lys126Ile) n.294A>T n.357+8A>T | |
| 1 | g.17028646T>C | CA338274377 | SDHB | c.206A>G (p.Lys69Arg) c.335A>G (p.Lys112Arg) c.377A>G (p.Lys126Arg) n.294A>G n.357+8A>G | |
| 1 | g.17028646T>G | CA338274386 | SDHB | c.206A>C (p.Lys69Thr) c.335A>C (p.Lys112Thr) c.377A>C (p.Lys126Thr) n.294A>C n.357+8A>C | |
| 1 | g.17028647T>A | CA338274390 | SDHB | c.205A>T (p.Lys69Ter) c.334A>T (p.Lys112Ter) c.376A>T (p.Lys126Ter) n.293A>T n.357+7A>T | |
| 1 | g.17028647T>C | CA18666643 | SDHB | c.205A>G (p.Lys69Glu) c.334A>G (p.Lys112Glu) c.376A>G (p.Lys126Glu) n.293A>G n.357+7A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17028647T>G | CA338274397 | SDHB | c.205A>C (p.Lys69Gln) c.334A>C (p.Lys112Gln) c.376A>C (p.Lys126Gln) n.293A>C n.357+7A>C | |
| 1 | g.17028647T= | CA1143525359 | SDHB | c.205A= (p.Lys69=) c.334A= (p.Lys112=) c.376A= (p.Lys126=) n.293A= n.357+7A= | |
| 1 | g.17028648T>A | CA416087675 | SDHB | c.204A>T (p.Ser68=) c.333A>T (p.Ser111=) c.375A>T (p.Ser125=) n.292A>T n.357+6A>T | |
| 1 | g.17028648T>C | CA416087677 | SDHB | c.204A>G (p.Ser68=) c.333A>G (p.Ser111=) c.375A>G (p.Ser125=) n.292A>G n.357+6A>G | ClinVar dbSNP |
| 1 | g.17028648T>G | CA416087679 | SDHB | c.204A>C (p.Ser68=) c.333A>C (p.Ser111=) c.375A>C (p.Ser125=) n.292A>C n.357+6A>C | |
| 1 | g.17028649G>A | CA338274404 | SDHB | c.203C>T (p.Ser68Leu) c.332C>T (p.Ser111Leu) c.374C>T (p.Ser125Leu) n.291C>T n.357+5C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.17028649G>C | CA16609939 | SDHB | c.203C>G (p.Ser68Ter) c.332C>G (p.Ser111Ter) c.374C>G (p.Ser125Ter) n.291C>G n.357+5C>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.17028649G= | CA1156080493 | SDHB | c.203C= (p.Ser68=) c.332C= (p.Ser111=) c.374C= (p.Ser125=) n.291C= n.357+5C= |