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 |
|---|---|---|---|---|---|
| 16 | g.51141629T>A | CA395891431 | SALL1 | c.593A>T (p.Glu198Val) c.302A>T (p.Glu101Val) c.77-4077A>T (n.77-4077A>T) | |
| 16 | g.51141629T>C | CA395891428 | SALL1 | c.593A>G (p.Glu198Gly) c.302A>G (p.Glu101Gly) c.77-4077A>G (n.77-4077A>G) | |
| 16 | g.51141629T>G | CA395891429 | SALL1 | c.593A>C (p.Glu198Ala) c.302A>C (p.Glu101Ala) c.77-4077A>C (n.77-4077A>C) | |
| 16 | g.51141630C>A | CA395891432 | SALL1 | c.592G>T (p.Glu198Ter) c.301G>T (p.Glu101Ter) c.77-4078G>T (n.77-4078G>T) | |
| 16 | g.51141630C= | CA2222022548 | SALL1 | c.592G= (p.Glu198=) c.301G= (p.Glu101=) c.77-4078G= (n.77-4078G=) | |
| 16 | g.51141630C>G | CA395891434 | SALL1 | c.592G>C (p.Glu198Gln) c.301G>C (p.Glu101Gln) c.77-4078G>C (n.77-4078G>C) | |
| 16 | g.51141630C>T | CA8053425 | SALL1 | c.592G>A (p.Glu198Lys) c.301G>A (p.Glu101Lys) c.77-4078G>A (n.77-4078G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141631G>A | CA8053426 | SALL1 | c.591C>T (p.Ile197=) c.300C>T (p.Ile100=) c.77-4079C>T (n.77-4079C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141631G>C | CA395891436 | SALL1 | c.591C>G (p.Ile197Met) c.300C>G (p.Ile100Met) c.77-4079C>G (n.77-4079C>G) | |
| 16 | g.51141631G= | CA2222022558 | SALL1 | c.591C= (p.Ile197=) c.300C= (p.Ile100=) c.77-4079C= (n.77-4079C=) | |
| 16 | g.51141631G>T | CA495781411 | SALL1 | c.591C>A (p.Ile197=) c.300C>A (p.Ile100=) c.77-4079C>A (n.77-4079C>A) | |
| 16 | g.51141632A= | CA2222022561 | SALL1 | c.590T= (p.Ile197=) c.299T= (p.Ile100=) c.77-4080T= (n.77-4080T=) | |
| 16 | g.51141632A>C | CA395891437 | SALL1 | c.590T>G (p.Ile197Ser) c.299T>G (p.Ile100Ser) c.77-4080T>G (n.77-4080T>G) | |
| 16 | g.51141632A>G | CA395891440 | SALL1 | c.590T>C (p.Ile197Thr) c.299T>C (p.Ile100Thr) c.77-4080T>C (n.77-4080T>C) | dbSNP gnomAD v2 |
| 16 | g.51141632A>T | CA395891438 | SALL1 | c.590T>A (p.Ile197Asn) c.299T>A (p.Ile100Asn) c.77-4080T>A (n.77-4080T>A) | |
| 16 | g.51141633T>A | CA395891442 | SALL1 | c.589A>T (p.Ile197Phe) c.298A>T (p.Ile100Phe) c.77-4081A>T (n.77-4081A>T) | gnomAD v4 |
| 16 | g.51141633T>C | CA281302994 | SALL1 | c.589A>G (p.Ile197Val) c.298A>G (p.Ile100Val) c.77-4081A>G (n.77-4081A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141633T>G | CA395891444 | SALL1 | c.589A>C (p.Ile197Leu) c.298A>C (p.Ile100Leu) c.77-4081A>C (n.77-4081A>C) | gnomAD v4 |
| 16 | g.51141633T= | CA2222022567 | SALL1 | c.589A= (p.Ile197=) c.298A= (p.Ile100=) c.77-4081A= (n.77-4081A=) | |
| 16 | g.51141634G>A | CA495781412 | SALL1 | c.588C>T (p.Ile196=) c.297C>T (p.Ile99=) c.77-4082C>T (n.77-4082C>T) | |
| 16 | g.51141634G>C | CA395891445 | SALL1 | c.588C>G (p.Ile196Met) c.297C>G (p.Ile99Met) c.77-4082C>G (n.77-4082C>G) | |
| 16 | g.51141634G>T | CA495781413 | SALL1 | c.588C>A (p.Ile196=) c.297C>A (p.Ile99=) c.77-4082C>A (n.77-4082C>A) | |
| 16 | g.51141635A>C | CA395891446 | SALL1 | c.587T>G (p.Ile196Ser) c.296T>G (p.Ile99Ser) c.77-4083T>G (n.77-4083T>G) | |
| 16 | g.51141635A>G | CA395891450 | SALL1 | c.587T>C (p.Ile196Thr) c.296T>C (p.Ile99Thr) c.77-4083T>C (n.77-4083T>C) | |
| 16 | g.51141635A>T | CA395891448 | SALL1 | c.587T>A (p.Ile196Asn) c.296T>A (p.Ile99Asn) c.77-4083T>A (n.77-4083T>A) | |
| 16 | g.51141636T>A | CA395891452 | SALL1 | c.586A>T (p.Ile196Phe) c.295A>T (p.Ile99Phe) c.77-4084A>T (n.77-4084A>T) | |
| 16 | g.51141636T>C | CA395891453 | SALL1 | c.586A>G (p.Ile196Val) c.295A>G (p.Ile99Val) c.77-4084A>G (n.77-4084A>G) | gnomAD v4 |
| 16 | g.51141636T>G | CA395891455 | SALL1 | c.586A>C (p.Ile196Leu) c.295A>C (p.Ile99Leu) c.77-4084A>C (n.77-4084A>C) | |
| 16 | g.51141637G>A | CA495781414 | SALL1 | c.585C>T (p.Val195=) c.294C>T (p.Val98=) c.77-4085C>T (n.77-4085C>T) | |
| 16 | g.51141637G>C | CA495781415 | SALL1 | c.585C>G (p.Val195=) c.294C>G (p.Val98=) c.77-4085C>G (n.77-4085C>G) | |
| 16 | g.51141637G>T | CA495781416 | SALL1 | c.585C>A (p.Val195=) c.294C>A (p.Val98=) c.77-4085C>A (n.77-4085C>A) | |
| 16 | g.51141638A>C | CA395891457 | SALL1 | c.584T>G (p.Val195Gly) c.293T>G (p.Val98Gly) c.77-4086T>G (n.77-4086T>G) | |
| 16 | g.51141638A>G | CA395891458 | SALL1 | c.584T>C (p.Val195Ala) c.293T>C (p.Val98Ala) c.77-4086T>C (n.77-4086T>C) | |
| 16 | g.51141638A>T | CA395891460 | SALL1 | c.584T>A (p.Val195Asp) c.293T>A (p.Val98Asp) c.77-4086T>A (n.77-4086T>A) | |
| 16 | g.51141639C>A | CA395891461 | SALL1 | c.583G>T (p.Val195Phe) c.292G>T (p.Val98Phe) c.77-4087G>T (n.77-4087G>T) | |
| 16 | g.51141639C= | CA2222022572 | SALL1 | c.583G= (p.Val195=) c.292G= (p.Val98=) c.77-4087G= (n.77-4087G=) | |
| 16 | g.51141639C>G | CA395891463 | SALL1 | c.583G>C (p.Val195Leu) c.292G>C (p.Val98Leu) c.77-4087G>C (n.77-4087G>C) | |
| 16 | g.51141639C>T | CA8053427 | SALL1 | c.583G>A (p.Val195Ile) c.292G>A (p.Val98Ile) c.77-4087G>A (n.77-4087G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141640G>A | CA495781417 | SALL1 | c.582C>T (p.Asn194=) c.291C>T (p.Asn97=) c.77-4088C>T (n.77-4088C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141640G>C | CA395891465 | SALL1 | c.582C>G (p.Asn194Lys) c.291C>G (p.Asn97Lys) c.77-4088C>G (n.77-4088C>G) | |
| 16 | g.51141640G= | CA2222022576 | SALL1 | c.582C= (p.Asn194=) c.291C= (p.Asn97=) c.77-4088C= (n.77-4088C=) | |
| 16 | g.51141640G>T | CA395891467 | SALL1 | c.582C>A (p.Asn194Lys) c.291C>A (p.Asn97Lys) c.77-4088C>A (n.77-4088C>A) | gnomAD v4 |
| 16 | g.51141641T>A | CA395891468 | SALL1 | c.581A>T (p.Asn194Ile) c.290A>T (p.Asn97Ile) c.77-4089A>T (n.77-4089A>T) | |
| 16 | g.51141641T>C | CA395891471 | SALL1 | c.581A>G (p.Asn194Ser) c.290A>G (p.Asn97Ser) c.77-4089A>G (n.77-4089A>G) | dbSNP |
| 16 | g.51141641T>G | CA395891470 | SALL1 | c.581A>C (p.Asn194Thr) c.290A>C (p.Asn97Thr) c.77-4089A>C (n.77-4089A>C) | |
| 16 | g.51141641T= | CA2222022578 | SALL1 | c.581A= (p.Asn194=) c.290A= (p.Asn97=) c.77-4089A= (n.77-4089A=) | |
| 16 | g.51141642T>A | CA395891473 | SALL1 | c.580A>T (p.Asn194Tyr) c.289A>T (p.Asn97Tyr) c.77-4090A>T (n.77-4090A>T) | |
| 16 | g.51141642T>C | CA395891475 | SALL1 | c.580A>G (p.Asn194Asp) c.289A>G (p.Asn97Asp) c.77-4090A>G (n.77-4090A>G) | gnomAD v4 |
| 16 | g.51141642T>G | CA395891476 | SALL1 | c.580A>C (p.Asn194His) c.289A>C (p.Asn97His) c.77-4090A>C (n.77-4090A>C) | |
| 16 | g.51141643G>A | CA495781418 | SALL1 | c.579C>T (p.Ser193=) c.288C>T (p.Ser96=) c.77-4091C>T (n.77-4091C>T) |