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.21006717_21006719del | CA1028204386 | APOB | c.10152_10154del (p.Thr3385del) c.5869+4017_5869+4019del (n.5869+4017_5869+4019del) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006719G>A | CA425343673 | APOB | c.10149C>T (p.Gly3383=) c.5869+4014C>T (n.5869+4014C>T) | |
| 2 | g.21006719G>C | CA425343675 | APOB | c.10149C>G (p.Gly3383=) c.5869+4014C>G (n.5869+4014C>G) | |
| 2 | g.21006719G>T | CA425343677 | APOB | c.10149C>A (p.Gly3383=) c.5869+4014C>A (n.5869+4014C>A) | |
| 2 | g.21006720C>A | CA345987324 | APOB | c.10148G>T (p.Gly3383Val) c.5869+4013G>T (n.5869+4013G>T) | |
| 2 | g.21006720C>G | CA345987326 | APOB | c.10148G>C (p.Gly3383Ala) c.5869+4013G>C (n.5869+4013G>C) | |
| 2 | g.21006720C>T | CA345987327 | APOB | c.10148G>A (p.Gly3383Asp) c.5869+4013G>A (n.5869+4013G>A) | |
| 2 | g.21006721C>A | CA345987332 | APOB | c.10147G>T (p.Gly3383Cys) c.5869+4012G>T (n.5869+4012G>T) | |
| 2 | g.21006721C= | CA2493474935 | APOB | c.10147G= (p.Gly3383=) c.5869+4012G= (n.5869+4012G=) | |
| 2 | g.21006721C>G | CA345987334 | APOB | c.10147G>C (p.Gly3383Arg) c.5869+4012G>C (n.5869+4012G>C) | |
| 2 | g.21006721C>T | CA345987330 | APOB | c.10147G>A (p.Gly3383Ser) c.5869+4012G>A (n.5869+4012G>A) | ClinVar dbSNP |
| 2 | g.21006722C>A | CA345987337 | APOB | c.10146G>T (p.Glu3382Asp) c.5869+4011G>T (n.5869+4011G>T) | |
| 2 | g.21006722C= | CA2493474936 | APOB | c.10146G= (p.Glu3382=) c.5869+4011G= (n.5869+4011G=) | |
| 2 | g.21006722C>G | CA345987338 | APOB | c.10146G>C (p.Glu3382Asp) c.5869+4011G>C (n.5869+4011G>C) | ClinVar dbSNP |
| 2 | g.21006722C>T | CA425343682 | APOB | c.10146G>A (p.Glu3382=) c.5869+4011G>A (n.5869+4011G>A) | COSMIC |
| 2 | g.21006723T>A | CA345987393 | APOB | c.10145A>T (p.Glu3382Val) c.5869+4010A>T (n.5869+4010A>T) | |
| 2 | g.21006723T>C | CA345987394 | APOB | c.10145A>G (p.Glu3382Gly) c.5869+4010A>G (n.5869+4010A>G) | |
| 2 | g.21006723T>G | CA345987395 | APOB | c.10145A>C (p.Glu3382Ala) c.5869+4010A>C (n.5869+4010A>C) | |
| 2 | g.21006724C>A | CA345987396 | APOB | c.10144G>T (p.Glu3382Ter) c.5869+4009G>T (n.5869+4009G>T) | |
| 2 | g.21006724C= | CA2493474937 | APOB | c.10144G= (p.Glu3382=) c.5869+4009G= (n.5869+4009G=) | |
| 2 | g.21006724C>G | CA042559 | APOB | c.10144G>C (p.Glu3382Gln) c.5869+4009G>C (n.5869+4009G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006724C>T | CA345987397 | APOB | c.10144G>A (p.Glu3382Lys) c.5869+4009G>A (n.5869+4009G>A) | dbSNP |
| 2 | g.21006725T>A | CA345987398 | APOB | c.10143A>T (p.Leu3381Phe) c.5869+4008A>T (n.5869+4008A>T) | |
| 2 | g.21006725T>C | CA425343654 | APOB | c.10143A>G (p.Leu3381=) c.5869+4008A>G (n.5869+4008A>G) | |
| 2 | g.21006725T>G | CA345987399 | APOB | c.10143A>C (p.Leu3381Phe) c.5869+4008A>C (n.5869+4008A>C) | |
| 2 | g.21006726A>C | CA345987400 | APOB | c.10142T>G (p.Leu3381Ter) c.5869+4007T>G (n.5869+4007T>G) | |
| 2 | g.21006726A>G | CA345987401 | APOB | c.10142T>C (p.Leu3381Ser) c.5869+4007T>C (n.5869+4007T>C) | COSMIC |
| 2 | g.21006726A>T | CA345987402 | APOB | c.10142T>A (p.Leu3381Ter) c.5869+4007T>A (n.5869+4007T>A) | |
| 2 | g.21006727A>C | CA345987403 | APOB | c.10141T>G (p.Leu3381Val) c.5869+4006T>G (n.5869+4006T>G) | |
| 2 | g.21006727A>G | CA425343656 | APOB | c.10141T>C (p.Leu3381=) c.5869+4006T>C (n.5869+4006T>C) | |
| 2 | g.21006727A>T | CA345987404 | APOB | c.10141T>A (p.Leu3381Ile) c.5869+4006T>A (n.5869+4006T>A) | |
| 2 | g.21006728T>A | CA345987405 | APOB | c.10140A>T (p.Lys3380Asn) c.5869+4005A>T (n.5869+4005A>T) | |
| 2 | g.21006728T>C | CA425343659 | APOB | c.10140A>G (p.Lys3380=) c.5869+4005A>G (n.5869+4005A>G) | |
| 2 | g.21006728T>G | CA345987406 | APOB | c.10140A>C (p.Lys3380Asn) c.5869+4005A>C (n.5869+4005A>C) | |
| 2 | g.21006729T>A | CA345987407 | APOB | c.10139A>T (p.Lys3380Ile) c.5869+4004A>T (n.5869+4004A>T) | |
| 2 | g.21006729T>C | CA345987408 | APOB | c.10139A>G (p.Lys3380Arg) c.5869+4004A>G (n.5869+4004A>G) | |
| 2 | g.21006729T>G | CA345987409 | APOB | c.10139A>C (p.Lys3380Thr) c.5869+4004A>C (n.5869+4004A>C) | |
| 2 | g.21006730T>A | CA345987410 | APOB | c.10138A>T (p.Lys3380Ter) c.5869+4003A>T (n.5869+4003A>T) | |
| 2 | g.21006730T>C | CA345987411 | APOB | c.10138A>G (p.Lys3380Glu) c.5869+4003A>G (n.5869+4003A>G) | |
| 2 | g.21006730T>G | CA345987412 | APOB | c.10138A>C (p.Lys3380Gln) c.5869+4003A>C (n.5869+4003A>C) | |
| 2 | g.21006731G>A | CA042549 | APOB | c.10137C>T (p.Tyr3379=) c.5869+4002C>T (n.5869+4002C>T) | dbSNP ExAC gnomAD v2 |
| 2 | g.21006731G>C | CA345987413 | APOB | c.10137C>G (p.Tyr3379Ter) c.5869+4002C>G (n.5869+4002C>G) | |
| 2 | g.21006731G= | CA2493474938 | APOB | c.10137C= (p.Tyr3379=) c.5869+4002C= (n.5869+4002C=) | |
| 2 | g.21006731G>T | CA345987414 | APOB | c.10137C>A (p.Tyr3379Ter) c.5869+4002C>A (n.5869+4002C>A) | |
| 2 | g.21006732T>A | CA345987415 | APOB | c.10136A>T (p.Tyr3379Phe) c.5869+4001A>T (n.5869+4001A>T) | |
| 2 | g.21006732T>C | CA43496436 | APOB | c.10136A>G (p.Tyr3379Cys) c.5869+4001A>G (n.5869+4001A>G) | dbSNP gnomAD v4 |
| 2 | g.21006732T>G | CA345987416 | APOB | c.10136A>C (p.Tyr3379Ser) c.5869+4001A>C (n.5869+4001A>C) | |
| 2 | g.21006732T= | CA2493474939 | APOB | c.10136A= (p.Tyr3379=) c.5869+4001A= (n.5869+4001A=) | |
| 2 | g.21006733A>C | CA345987417 | APOB | c.10135T>G (p.Tyr3379Asp) c.5869+4000T>G (n.5869+4000T>G) | |
| 2 | g.21006733A>G | CA345987419 | APOB | c.10135T>C (p.Tyr3379His) c.5869+4000T>C (n.5869+4000T>C) |