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.21006815A>C | CA345987693 | APOB | c.10053T>G (p.Asn3351Lys) c.5869+3918T>G (n.5869+3918T>G) | |
| 2 | g.21006815A>G | CA425343889 | APOB | c.10053T>C (p.Asn3351=) c.5869+3918T>C (n.5869+3918T>C) | ClinVar |
| 2 | g.21006815A>T | CA345987695 | APOB | c.10053T>A (p.Asn3351Lys) c.5869+3918T>A (n.5869+3918T>A) | gnomAD v4 |
| 2 | g.21006816T>A | CA345987698 | APOB | c.10052A>T (p.Asn3351Ile) c.5869+3917A>T (n.5869+3917A>T) | |
| 2 | g.21006816T>C | CA345987700 | APOB | c.10052A>G (p.Asn3351Ser) c.5869+3917A>G (n.5869+3917A>G) | dbSNP |
| 2 | g.21006816T>G | CA345987702 | APOB | c.10052A>C (p.Asn3351Thr) c.5869+3917A>C (n.5869+3917A>C) | |
| 2 | g.21006817T>A | CA345987708 | APOB | c.10051A>T (p.Asn3351Tyr) c.5869+3916A>T (n.5869+3916A>T) | |
| 2 | g.21006817T>C | CA345987706 | APOB | c.10051A>G (p.Asn3351Asp) c.5869+3916A>G (n.5869+3916A>G) | ClinVar |
| 2 | g.21006817T>G | CA345987705 | APOB | c.10051A>C (p.Asn3351His) c.5869+3916A>C (n.5869+3916A>C) | |
| 2 | g.21006818C>A | CA425343900 | APOB | c.10050G>T (p.Leu3350=) c.5869+3915G>T (n.5869+3915G>T) | |
| 2 | g.21006818C>G | CA425343901 | APOB | c.10050G>C (p.Leu3350=) c.5869+3915G>C (n.5869+3915G>C) | |
| 2 | g.21006818C>T | CA425343902 | APOB | c.10050G>A (p.Leu3350=) c.5869+3915G>A (n.5869+3915G>A) | |
| 2 | g.21006819A= | CA2493474987 | APOB | c.10049T= (p.Leu3350=) c.5869+3914T= (n.5869+3914T=) | |
| 2 | g.21006819A>C | CA345987711 | APOB | c.10049T>G (p.Leu3350Arg) c.5869+3914T>G (n.5869+3914T>G) | |
| 2 | g.21006819A>G | CA042223 | APOB | c.10049T>C (p.Leu3350Pro) c.5869+3914T>C (n.5869+3914T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006819A>T | CA345987713 | APOB | c.10049T>A (p.Leu3350Gln) c.5869+3914T>A (n.5869+3914T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006820G>A | CA425343907 | APOB | c.10048C>T (p.Leu3350=) c.5869+3913C>T (n.5869+3913C>T) | |
| 2 | g.21006820G>C | CA345987716 | APOB | c.10048C>G (p.Leu3350Val) c.5869+3913C>G (n.5869+3913C>G) | |
| 2 | g.21006820G>T | CA345987718 | APOB | c.10048C>A (p.Leu3350Met) c.5869+3913C>A (n.5869+3913C>A) | |
| 2 | g.21006821T>A | CA425343912 | APOB | c.10047A>T (p.Thr3349=) c.5869+3912A>T (n.5869+3912A>T) | gnomAD v4 |
| 2 | g.21006821T>C | CA042210 | APOB | c.10047A>G (p.Thr3349=) c.5869+3912A>G (n.5869+3912A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006821T>G | CA425343910 | APOB | c.10047A>C (p.Thr3349=) c.5869+3912A>C (n.5869+3912A>C) | |
| 2 | g.21006821T= | CA2493474988 | APOB | c.10047A= (p.Thr3349=) c.5869+3912A= (n.5869+3912A=) | |
| 2 | g.21006822G>A | CA345987722 | APOB | c.10046C>T (p.Thr3349Ile) c.5869+3911C>T (n.5869+3911C>T) | |
| 2 | g.21006822G>C | CA345987725 | APOB | c.10046C>G (p.Thr3349Arg) c.5869+3911C>G (n.5869+3911C>G) | |
| 2 | g.21006822G>T | CA345987724 | APOB | c.10046C>A (p.Thr3349Lys) c.5869+3911C>A (n.5869+3911C>A) | |
| 2 | g.21006823T>A | CA43496615 | APOB | c.10045A>T (p.Thr3349Ser) c.5869+3910A>T (n.5869+3910A>T) | dbSNP |
| 2 | g.21006823T>C | CA345987728 | APOB | c.10045A>G (p.Thr3349Ala) c.5869+3910A>G (n.5869+3910A>G) | |
| 2 | g.21006823T>G | CA042196 | APOB | c.10045A>C (p.Thr3349Pro) c.5869+3910A>C (n.5869+3910A>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.21006823T= | CA2493474989 | APOB | c.10045A= (p.Thr3349=) c.5869+3910A= (n.5869+3910A=) | |
| 2 | g.21006824G>A | CA425343920 | APOB | c.10044C>T (p.Ile3348=) c.5869+3909C>T (n.5869+3909C>T) | dbSNP |
| 2 | g.21006824G>C | CA345987732 | APOB | c.10044C>G (p.Ile3348Met) c.5869+3909C>G (n.5869+3909C>G) | |
| 2 | g.21006824G= | CA2493474990 | APOB | c.10044C= (p.Ile3348=) c.5869+3909C= (n.5869+3909C=) | |
| 2 | g.21006824G>T | CA425343918 | APOB | c.10044C>A (p.Ile3348=) c.5869+3909C>A (n.5869+3909C>A) | |
| 2 | g.21006825A>C | CA345987734 | APOB | c.10043T>G (p.Ile3348Ser) c.5869+3908T>G (n.5869+3908T>G) | |
| 2 | g.21006825A>G | CA345987736 | APOB | c.10043T>C (p.Ile3348Thr) c.5869+3908T>C (n.5869+3908T>C) | gnomAD v4 |
| 2 | g.21006825A>T | CA345987737 | APOB | c.10043T>A (p.Ile3348Asn) c.5869+3908T>A (n.5869+3908T>A) | |
| 2 | g.21006826T>A | CA345987739 | APOB | c.10042A>T (p.Ile3348Phe) c.5869+3907A>T (n.5869+3907A>T) | |
| 2 | g.21006826T>C | CA042177 | APOB | c.10042A>G (p.Ile3348Val) c.5869+3907A>G (n.5869+3907A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006826T>G | CA345987743 | APOB | c.10042A>C (p.Ile3348Leu) c.5869+3907A>C (n.5869+3907A>C) | |
| 2 | g.21006826T= | CA2493474991 | APOB | c.10042A= (p.Ile3348=) c.5869+3907A= (n.5869+3907A=) | |
| 2 | g.21006827G>A | CA425343927 | APOB | c.10041C>T (p.Val3347=) c.5869+3906C>T (n.5869+3906C>T) | |
| 2 | g.21006827G>C | CA425343929 | APOB | c.10041C>G (p.Val3347=) c.5869+3906C>G (n.5869+3906C>G) | |
| 2 | g.21006827G>T | CA425343928 | APOB | c.10041C>A (p.Val3347=) c.5869+3906C>A (n.5869+3906C>A) | |
| 2 | g.21006828A>C | CA345987749 | APOB | c.10040T>G (p.Val3347Gly) c.5869+3905T>G (n.5869+3905T>G) | COSMIC |
| 2 | g.21006828A>G | CA345987747 | APOB | c.10040T>C (p.Val3347Ala) c.5869+3905T>C (n.5869+3905T>C) | |
| 2 | g.21006828A>T | CA345987746 | APOB | c.10040T>A (p.Val3347Asp) c.5869+3905T>A (n.5869+3905T>A) | |
| 2 | g.21006829C>A | CA345987752 | APOB | c.10039G>T (p.Val3347Phe) c.5869+3904G>T (n.5869+3904G>T) | |
| 2 | g.21006829C>G | CA345987755 | APOB | c.10039G>C (p.Val3347Leu) c.5869+3904G>C (n.5869+3904G>C) | |
| 2 | g.21006829C>T | CA345987753 | APOB | c.10039G>A (p.Val3347Ile) c.5869+3904G>A (n.5869+3904G>A) |