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.21007298C>A | CA345989473 | APOB | c.9570G>T (p.Leu3190Phe) c.5869+3435G>T (n.5869+3435G>T) | |
| 2 | g.21007298C= | CA2493475187 | APOB | c.9570G= (p.Leu3190=) c.5869+3435G= (n.5869+3435G=) | |
| 2 | g.21007298C>G | CA345989474 | APOB | c.9570G>C (p.Leu3190Phe) c.5869+3435G>C (n.5869+3435G>C) | |
| 2 | g.21007298C>T | CA066670 | APOB | c.9570G>A (p.Leu3190=) c.5869+3435G>A (n.5869+3435G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007299A>C | CA345989477 | APOB | c.9569T>G (p.Leu3190Trp) c.5869+3434T>G (n.5869+3434T>G) | |
| 2 | g.21007299A>G | CA345989475 | APOB | c.9569T>C (p.Leu3190Ser) c.5869+3434T>C (n.5869+3434T>C) | |
| 2 | g.21007299A>T | CA345989476 | APOB | c.9569T>A (p.Leu3190Ter) c.5869+3434T>A (n.5869+3434T>A) | |
| 2 | g.21007300A>C | CA345989478 | APOB | c.9568T>G (p.Leu3190Val) c.5869+3433T>G (n.5869+3433T>G) | ClinVar gnomAD v4 |
| 2 | g.21007300A>G | CA425343856 | APOB | c.9568T>C (p.Leu3190=) c.5869+3433T>C (n.5869+3433T>C) | |
| 2 | g.21007300A>T | CA345989479 | APOB | c.9568T>A (p.Leu3190Met) c.5869+3433T>A (n.5869+3433T>A) | |
| 2 | g.21007301A>C | CA425343858 | APOB | c.9567T>G (p.Pro3189=) c.5869+3432T>G (n.5869+3432T>G) | |
| 2 | g.21007301A>G | CA425343860 | APOB | c.9567T>C (p.Pro3189=) c.5869+3432T>C (n.5869+3432T>C) | |
| 2 | g.21007301A>T | CA425343859 | APOB | c.9567T>A (p.Pro3189=) c.5869+3432T>A (n.5869+3432T>A) | |
| 2 | g.21007302G>A | CA345989480 | APOB | c.9566C>T (p.Pro3189Leu) c.5869+3431C>T (n.5869+3431C>T) | |
| 2 | g.21007302G>C | CA345989481 | APOB | c.9566C>G (p.Pro3189Arg) c.5869+3431C>G (n.5869+3431C>G) | |
| 2 | g.21007302G>T | CA345989482 | APOB | c.9566C>A (p.Pro3189His) c.5869+3431C>A (n.5869+3431C>A) | |
| 2 | g.21007303del | CA2658076735 | APOB | c.9566del (p.Pro3189LeufsTer28) c.5869+3431del (n.5869+3431del) | gnomAD v4 |
| 2 | g.21007303G>A | CA345989483 | APOB | c.9565C>T (p.Pro3189Ser) c.5869+3430C>T (n.5869+3430C>T) | COSMIC |
| 2 | g.21007303G>C | CA345989485 | APOB | c.9565C>G (p.Pro3189Ala) c.5869+3430C>G (n.5869+3430C>G) | |
| 2 | g.21007303G>T | CA345989484 | APOB | c.9565C>A (p.Pro3189Thr) c.5869+3430C>A (n.5869+3430C>A) | |
| 2 | g.21007304A= | CA2493475188 | APOB | c.9564T= (p.Asn3188=) c.5869+3429T= (n.5869+3429T=) | |
| 2 | g.21007304A>C | CA345989486 | APOB | c.9564T>G (p.Asn3188Lys) c.5869+3429T>G (n.5869+3429T>G) | |
| 2 | g.21007304A>G | CA425343869 | APOB | c.9564T>C (p.Asn3188=) c.5869+3429T>C (n.5869+3429T>C) | gnomAD v4 |
| 2 | g.21007304A>T | CA345989487 | APOB | c.9564T>A (p.Asn3188Lys) c.5869+3429T>A (n.5869+3429T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007305T>A | CA345989488 | APOB | c.9563A>T (p.Asn3188Ile) c.5869+3428A>T (n.5869+3428A>T) | |
| 2 | g.21007305T>C | CA345989489 | APOB | c.9563A>G (p.Asn3188Ser) c.5869+3428A>G (n.5869+3428A>G) | gnomAD v4 |
| 2 | g.21007305T>G | CA345989490 | APOB | c.9563A>C (p.Asn3188Thr) c.5869+3428A>C (n.5869+3428A>C) | |
| 2 | g.21007306T>A | CA345989491 | APOB | c.9562A>T (p.Asn3188Tyr) c.5869+3427A>T (n.5869+3427A>T) | |
| 2 | g.21007306T>C | CA345989492 | APOB | c.9562A>G (p.Asn3188Asp) c.5869+3427A>G (n.5869+3427A>G) | |
| 2 | g.21007306T>G | CA345989493 | APOB | c.9562A>C (p.Asn3188His) c.5869+3427A>C (n.5869+3427A>C) | |
| 2 | g.21007307T>A | CA425343878 | APOB | c.9561A>T (p.Thr3187=) c.5869+3426A>T (n.5869+3426A>T) | |
| 2 | g.21007307T>C | CA425343880 | APOB | c.9561A>G (p.Thr3187=) c.5869+3426A>G (n.5869+3426A>G) | |
| 2 | g.21007307T>G | CA425343881 | APOB | c.9561A>C (p.Thr3187=) c.5869+3426A>C (n.5869+3426A>C) | |
| 2 | g.21007308G>A | CA345989494 | APOB | c.9560C>T (p.Thr3187Ile) c.5869+3425C>T (n.5869+3425C>T) | |
| 2 | g.21007308G>C | CA345989495 | APOB | c.9560C>G (p.Thr3187Arg) c.5869+3425C>G (n.5869+3425C>G) | dbSNP COSMIC |
| 2 | g.21007308G= | CA2493475189 | APOB | c.9560C= (p.Thr3187=) c.5869+3425C= (n.5869+3425C=) | |
| 2 | g.21007308G>T | CA345989496 | APOB | c.9560C>A (p.Thr3187Lys) c.5869+3425C>A (n.5869+3425C>A) | gnomAD v4 |
| 2 | g.21007309T>A | CA345989497 | APOB | c.9559A>T (p.Thr3187Ser) c.5869+3424A>T (n.5869+3424A>T) | |
| 2 | g.21007309T>C | CA345989499 | APOB | c.9559A>G (p.Thr3187Ala) c.5869+3424A>G (n.5869+3424A>G) | |
| 2 | g.21007309T>G | CA345989498 | APOB | c.9559A>C (p.Thr3187Pro) c.5869+3424A>C (n.5869+3424A>C) | gnomAD v4 |
| 2 | g.21007310G>A | CA425343886 | APOB | c.9558C>T (p.Ile3186=) c.5869+3423C>T (n.5869+3423C>T) | |
| 2 | g.21007310G>C | CA345989500 | APOB | c.9558C>G (p.Ile3186Met) c.5869+3423C>G (n.5869+3423C>G) | |
| 2 | g.21007310G>T | CA425343888 | APOB | c.9558C>A (p.Ile3186=) c.5869+3423C>A (n.5869+3423C>A) | |
| 2 | g.21007311A>C | CA345989503 | APOB | c.9557T>G (p.Ile3186Ser) c.5869+3422T>G (n.5869+3422T>G) | |
| 2 | g.21007311A>G | CA345989501 | APOB | c.9557T>C (p.Ile3186Thr) c.5869+3422T>C (n.5869+3422T>C) | |
| 2 | g.21007311A>T | CA345989502 | APOB | c.9557T>A (p.Ile3186Asn) c.5869+3422T>A (n.5869+3422T>A) | |
| 2 | g.21007312T>A | CA345989504 | APOB | c.9556A>T (p.Ile3186Phe) c.5869+3421A>T (n.5869+3421A>T) | |
| 2 | g.21007312T>C | CA345989505 | APOB | c.9556A>G (p.Ile3186Val) c.5869+3421A>G (n.5869+3421A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007312T>G | CA345989506 | APOB | c.9556A>C (p.Ile3186Leu) c.5869+3421A>C (n.5869+3421A>C) | |
| 2 | g.21007312T= | CA2493475190 | APOB | c.9556A= (p.Ile3186=) c.5869+3421A= (n.5869+3421A=) |