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.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) | |
| 2 | g.21006830A>C | CA345987758 | APOB | c.10038T>G (p.Ser3346Arg) c.5869+3903T>G (n.5869+3903T>G) | |
| 2 | g.21006830A>G | CA425343934 | APOB | c.10038T>C (p.Ser3346=) c.5869+3903T>C (n.5869+3903T>C) | |
| 2 | g.21006830A>T | CA345987759 | APOB | c.10038T>A (p.Ser3346Arg) c.5869+3903T>A (n.5869+3903T>A) | |
| 2 | g.21006831C>A | CA022734 | APOB | c.10037G>T (p.Ser3346Ile) c.5869+3902G>T (n.5869+3902G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006831C= | CA2493474992 | APOB | c.10037G= (p.Ser3346=) c.5869+3902G= (n.5869+3902G=) | |
| 2 | g.21006831C>G | CA345987763 | APOB | c.10037G>C (p.Ser3346Thr) c.5869+3902G>C (n.5869+3902G>C) | |
| 2 | g.21006831C>T | CA345987765 | APOB | c.10037G>A (p.Ser3346Asn) c.5869+3902G>A (n.5869+3902G>A) | |
| 2 | g.21006832T>A | CA345987768 | APOB | c.10036A>T (p.Ser3346Cys) c.5869+3901A>T (n.5869+3901A>T) | |
| 2 | g.21006832T>C | CA345987770 | APOB | c.10036A>G (p.Ser3346Gly) c.5869+3901A>G (n.5869+3901A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006832T>G | CA345987772 | APOB | c.10036A>C (p.Ser3346Arg) c.5869+3901A>C (n.5869+3901A>C) | |
| 2 | g.21006832T= | CA2493474993 | APOB | c.10036A= (p.Ser3346=) c.5869+3901A= (n.5869+3901A=) | |
| 2 | g.21006833T>A | CA425343938 | APOB | c.10035A>T (p.Ser3345=) c.5869+3900A>T (n.5869+3900A>T) | |
| 2 | g.21006833T>C | CA425343941 | APOB | c.10035A>G (p.Ser3345=) c.5869+3900A>G (n.5869+3900A>G) | |
| 2 | g.21006833T>G | CA425343943 | APOB | c.10035A>C (p.Ser3345=) c.5869+3900A>C (n.5869+3900A>C) | |
| 2 | g.21006834G>A | CA042136 | APOB | c.10034C>T (p.Ser3345Leu) c.5869+3899C>T (n.5869+3899C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.21006834G>C | CA345987775 | APOB | c.10034C>G (p.Ser3345Ter) c.5869+3899C>G (n.5869+3899C>G) |