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 |
|---|---|---|---|---|---|
| 2 | g.21010033G>A | CA022898 | APOB | c.6835C>T (p.Gln2279Ter) c.5869+700C>T (n.5869+700C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21010033G>C | CA346000558 | APOB | c.6835C>G (p.Gln2279Glu) c.5869+700C>G (n.5869+700C>G) | |
| 2 | g.21010033G= | CA2493476522 | APOB | c.6835C= (p.Gln2279=) c.5869+700C= (n.5869+700C=) | |
| 2 | g.21010033G>T | CA346000560 | APOB | c.6835C>A (p.Gln2279Lys) c.5869+700C>A (n.5869+700C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21010034G>A | CA425345903 | APOB | c.6834C>T (p.Ile2278=) c.5869+699C>T (n.5869+699C>T) | |
| 2 | g.21010034G>C | CA346000562 | APOB | c.6834C>G (p.Ile2278Met) c.5869+699C>G (n.5869+699C>G) | gnomAD v4 |
| 2 | g.21010034G>T | CA425345904 | APOB | c.6834C>A (p.Ile2278=) c.5869+699C>A (n.5869+699C>A) | COSMIC |
| 2 | g.21010035A>C | CA346000564 | APOB | c.6833T>G (p.Ile2278Ser) c.5869+698T>G (n.5869+698T>G) | |
| 2 | g.21010035A>G | CA346000566 | APOB | c.6833T>C (p.Ile2278Thr) c.5869+698T>C (n.5869+698T>C) | |
| 2 | g.21010035A>T | CA346000567 | APOB | c.6833T>A (p.Ile2278Asn) c.5869+698T>A (n.5869+698T>A) | |
| 2 | g.21010036T>A | CA346000569 | APOB | c.6832A>T (p.Ile2278Phe) c.5869+697A>T (n.5869+697A>T) | |
| 2 | g.21010036T>C | CA346000570 | APOB | c.6832A>G (p.Ile2278Val) c.5869+697A>G (n.5869+697A>G) | |
| 2 | g.21010036T>G | CA346000572 | APOB | c.6832A>C (p.Ile2278Leu) c.5869+697A>C (n.5869+697A>C) | |
| 2 | g.21010037G>A | CA425345905 | APOB | c.6831C>T (p.Asp2277=) c.5869+696C>T (n.5869+696C>T) | |
| 2 | g.21010037G>C | CA346000575 | APOB | c.6831C>G (p.Asp2277Glu) c.5869+696C>G (n.5869+696C>G) | |
| 2 | g.21010037G>T | CA346000574 | APOB | c.6831C>A (p.Asp2277Glu) c.5869+696C>A (n.5869+696C>A) | |
| 2 | g.21010038T>A | CA346000578 | APOB | c.6830A>T (p.Asp2277Val) c.5869+695A>T (n.5869+695A>T) | |
| 2 | g.21010038T>C | CA346000579 | APOB | c.6830A>G (p.Asp2277Gly) c.5869+695A>G (n.5869+695A>G) | |
| 2 | g.21010038T>G | CA346000580 | APOB | c.6830A>C (p.Asp2277Ala) c.5869+695A>C (n.5869+695A>C) | |
| 2 | g.21010039C>A | CA346000582 | APOB | c.6829G>T (p.Asp2277Tyr) c.5869+694G>T (n.5869+694G>T) | |
| 2 | g.21010039C= | CA2493476523 | APOB | c.6829G= (p.Asp2277=) c.5869+694G= (n.5869+694G=) | |
| 2 | g.21010039C>G | CA063603 | APOB | c.6829G>C (p.Asp2277His) c.5869+694G>C (n.5869+694G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21010039C>T | CA346000585 | APOB | c.6829G>A (p.Asp2277Asn) c.5869+694G>A (n.5869+694G>A) | |
| 2 | g.21010040T>A | CA425345906 | APOB | c.6828A>T (p.Ile2276=) c.5869+693A>T (n.5869+693A>T) | |
| 2 | g.21010040T>C | CA063594 | APOB | c.6828A>G (p.Ile2276Met) c.5869+693A>G (n.5869+693A>G) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.21010040T>G | CA425345907 | APOB | c.6828A>C (p.Ile2276=) c.5869+693A>C (n.5869+693A>C) | |
| 2 | g.21010040T= | CA2493476524 | APOB | c.6828A= (p.Ile2276=) c.5869+693A= (n.5869+693A=) | |
| 2 | g.21010041A= | CA2493476525 | APOB | c.6827T= (p.Ile2276=) c.5869+692T= (n.5869+692T=) | |
| 2 | g.21010041A>C | CA346000588 | APOB | c.6827T>G (p.Ile2276Arg) c.5869+692T>G (n.5869+692T>G) | |
| 2 | g.21010041A>G | CA346000590 | APOB | c.6827T>C (p.Ile2276Thr) c.5869+692T>C (n.5869+692T>C) | dbSNP gnomAD v4 COSMIC |
| 2 | g.21010041A>T | CA346000591 | APOB | c.6827T>A (p.Ile2276Lys) c.5869+692T>A (n.5869+692T>A) | |
| 2 | g.21010042T>A | CA346000593 | APOB | c.6826A>T (p.Ile2276Leu) c.5869+691A>T (n.5869+691A>T) | |
| 2 | g.21010042T>C | CA346000595 | APOB | c.6826A>G (p.Ile2276Val) c.5869+691A>G (n.5869+691A>G) | dbSNP |
| 2 | g.21010042T>G | CA346000597 | APOB | c.6826A>C (p.Ile2276Leu) c.5869+691A>C (n.5869+691A>C) | |
| 2 | g.21010042T= | CA2493476526 | APOB | c.6826A= (p.Ile2276=) c.5869+691A= (n.5869+691A=) | |
| 2 | g.21010043A>C | CA346000598 | APOB | c.6825T>G (p.Asn2275Lys) c.5869+690T>G (n.5869+690T>G) | |
| 2 | g.21010043A>G | CA425345908 | APOB | c.6825T>C (p.Asn2275=) c.5869+690T>C (n.5869+690T>C) | |
| 2 | g.21010043A>T | CA346000600 | APOB | c.6825T>A (p.Asn2275Lys) c.5869+690T>A (n.5869+690T>A) | |
| 2 | g.21010044T>A | CA346000601 | APOB | c.6824A>T (p.Asn2275Ile) c.5869+689A>T (n.5869+689A>T) | |
| 2 | g.21010044T>C | CA346000603 | APOB | c.6824A>G (p.Asn2275Ser) c.5869+689A>G (n.5869+689A>G) | |
| 2 | g.21010044T>G | CA346000604 | APOB | c.6824A>C (p.Asn2275Thr) c.5869+689A>C (n.5869+689A>C) | |
| 2 | g.21010045T>A | CA346000606 | APOB | c.6823A>T (p.Asn2275Tyr) c.5869+688A>T (n.5869+688A>T) | |
| 2 | g.21010045T>C | CA346000608 | APOB | c.6823A>G (p.Asn2275Asp) c.5869+688A>G (n.5869+688A>G) | |
| 2 | g.21010045T>G | CA346000610 | APOB | c.6823A>C (p.Asn2275His) c.5869+688A>C (n.5869+688A>C) | |
| 2 | g.21010046C>A | CA346000612 | APOB | c.6822G>T (p.Gln2274His) c.5869+687G>T (n.5869+687G>T) | gnomAD v4 |
| 2 | g.21010046C= | CA2493476527 | APOB | c.6822G= (p.Gln2274=) c.5869+687G= (n.5869+687G=) | |
| 2 | g.21010046C>G | CA346000614 | APOB | c.6822G>C (p.Gln2274His) c.5869+687G>C (n.5869+687G>C) | |
| 2 | g.21010046C>T | CA063588 | APOB | c.6822G>A (p.Gln2274=) c.5869+687G>A (n.5869+687G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21010047T>A | CA346000616 | APOB | c.6821A>T (p.Gln2274Leu) c.5869+686A>T (n.5869+686A>T) | |
| 2 | g.21010047T>C | CA346000618 | APOB | c.6821A>G (p.Gln2274Arg) c.5869+686A>G (n.5869+686A>G) |