WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99618964_99619033del | CA2544456484 | MTTP | c.2218-10_2277del c.1969-10_2028del c.2299-10_2358del c.*665-10_*724del | |
| 4 | g.99618994A>C | CA440331333 | MTTP | c.2238A>C (p.Gly746=) c.1989A>C (p.Gly663=) c.2319A>C (p.Gly773=) c.*685A>C (n.*685A>C) | ClinVar dbSNP |
| 4 | g.99618994A>G | CA440331334 | MTTP | c.2238A>G (p.Gly746=) c.1989A>G (p.Gly663=) c.2319A>G (p.Gly773=) c.*685A>G (n.*685A>G) | gnomAD v4 |
| 4 | g.99618994A>T | CA440331335 | MTTP | c.2238A>T (p.Gly746=) c.1989A>T (p.Gly663=) c.2319A>T (p.Gly773=) c.*685A>T (n.*685A>T) | |
| 4 | g.99618995C>A | CA357518153 | MTTP | c.2239C>A (p.Leu747Ile) c.1990C>A (p.Leu664Ile) c.2320C>A (p.Leu774Ile) c.*686C>A (n.*686C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99618995C= | CA1480086473 | MTTP | c.2239C= (p.Leu747=) c.1990C= (p.Leu664=) c.2320C= (p.Leu774=) c.*686C= (n.*686C=) | |
| 4 | g.99618995C>G | CA357518154 | MTTP | c.2239C>G (p.Leu747Val) c.1990C>G (p.Leu664Val) c.2320C>G (p.Leu774Val) c.*686C>G (n.*686C>G) | |
| 4 | g.99618995C>T | CA440331336 | MTTP | c.2239C>T (p.Leu747=) c.1990C>T (p.Leu664=) c.2320C>T (p.Leu774=) c.*686C>T (n.*686C>T) | gnomAD v4 |
| 4 | g.99618996T>A | CA357518155 | MTTP | c.2240T>A (p.Leu747Gln) c.1991T>A (p.Leu664Gln) c.2321T>A (p.Leu774Gln) c.*687T>A (n.*687T>A) | |
| 4 | g.99618996T>C | CA357518157 | MTTP | c.2240T>C (p.Leu747Pro) c.1991T>C (p.Leu664Pro) c.2321T>C (p.Leu774Pro) c.*687T>C (n.*687T>C) | |
| 4 | g.99618996T>G | CA357518158 | MTTP | c.2240T>G (p.Leu747Arg) c.1991T>G (p.Leu664Arg) c.2321T>G (p.Leu774Arg) c.*687T>G (n.*687T>G) | gnomAD v4 |
| 4 | g.99618996dup | CA2578152491 | MTTP | c.2240dup (p.Ala749SerfsTer12) c.1991dup (p.Ala666SerfsTer12) c.2321dup (p.Ala776SerfsTer12) c.*687dup (n.*687dup) | |
| 4 | g.99618997A>C | CA440331337 | MTTP | c.2241A>C (p.Leu747=) c.1992A>C (p.Leu664=) c.2322A>C (p.Leu774=) c.*688A>C (n.*688A>C) | |
| 4 | g.99618997A>G | CA440331339 | MTTP | c.2241A>G (p.Leu747=) c.1992A>G (p.Leu664=) c.2322A>G (p.Leu774=) c.*688A>G (n.*688A>G) | |
| 4 | g.99618997A>T | CA440331338 | MTTP | c.2241A>T (p.Leu747=) c.1992A>T (p.Leu664=) c.2322A>T (p.Leu774=) c.*688A>T (n.*688A>T) | |
| 4 | g.99618998A>C | CA357518160 | MTTP | c.2242A>C (p.Lys748Gln) c.1993A>C (p.Lys665Gln) c.2323A>C (p.Lys775Gln) c.*689A>C (n.*689A>C) | |
| 4 | g.99618998A>G | CA357518162 | MTTP | c.2242A>G (p.Lys748Glu) c.1993A>G (p.Lys665Glu) c.2323A>G (p.Lys775Glu) c.*689A>G (n.*689A>G) | |
| 4 | g.99618998A>T | CA357518163 | MTTP | c.2242A>T (p.Lys748Ter) c.1993A>T (p.Lys665Ter) c.2323A>T (p.Lys775Ter) c.*689A>T (n.*689A>T) | |
| 4 | g.99618999A>C | CA357518165 | MTTP | c.2243A>C (p.Lys748Thr) c.1994A>C (p.Lys665Thr) c.2324A>C (p.Lys775Thr) c.*690A>C (n.*690A>C) | |
| 4 | g.99618999A>G | CA357518167 | MTTP | c.2243A>G (p.Lys748Arg) c.1994A>G (p.Lys665Arg) c.2324A>G (p.Lys775Arg) c.*690A>G (n.*690A>G) | |
| 4 | g.99618999A>T | CA357518169 | MTTP | c.2243A>T (p.Lys748Ile) c.1994A>T (p.Lys665Ile) c.2324A>T (p.Lys775Ile) c.*690A>T (n.*690A>T) | |
| 4 | g.99619000A>C | CA357518173 | MTTP | c.2244A>C (p.Lys748Asn) c.1995A>C (p.Lys665Asn) c.2325A>C (p.Lys775Asn) c.*691A>C (n.*691A>C) | gnomAD v4 |
| 4 | g.99619000A>G | CA440331340 | MTTP | c.2244A>G (p.Lys748=) c.1995A>G (p.Lys665=) c.2325A>G (p.Lys775=) c.*691A>G (n.*691A>G) | |
| 4 | g.99619000A>T | CA357518172 | MTTP | c.2244A>T (p.Lys748Asn) c.1995A>T (p.Lys665Asn) c.2325A>T (p.Lys775Asn) c.*691A>T (n.*691A>T) | |
| 4 | g.99619001G>A | CA357518175 | MTTP | c.2245G>A (p.Ala749Thr) c.1996G>A (p.Ala666Thr) c.2326G>A (p.Ala776Thr) c.*692G>A (n.*692G>A) | dbSNP |
| 4 | g.99619001G>C | CA357518178 | MTTP | c.2245G>C (p.Ala749Pro) c.1996G>C (p.Ala666Pro) c.2326G>C (p.Ala776Pro) c.*692G>C (n.*692G>C) | |
| 4 | g.99619001G= | CA1480086474 | MTTP | c.2245G= (p.Ala749=) c.1996G= (p.Ala666=) c.2326G= (p.Ala776=) c.*692G= (n.*692G=) | |
| 4 | g.99619001G>T | CA357518176 | MTTP | c.2245G>T (p.Ala749Ser) c.1996G>T (p.Ala666Ser) c.2326G>T (p.Ala776Ser) c.*692G>T (n.*692G>T) | |
| 4 | g.99619002C>A | CA357518180 | MTTP | c.2246C>A (p.Ala749Asp) c.1997C>A (p.Ala666Asp) c.2327C>A (p.Ala776Asp) c.*693C>A (n.*693C>A) | |
| 4 | g.99619002C= | CA1480086475 | MTTP | c.2246C= (p.Ala749=) c.1997C= (p.Ala666=) c.2327C= (p.Ala776=) c.*693C= (n.*693C=) | |
| 4 | g.99619002C>G | CA357518182 | MTTP | c.2246C>G (p.Ala749Gly) c.1997C>G (p.Ala666Gly) c.2327C>G (p.Ala776Gly) c.*693C>G (n.*693C>G) | |
| 4 | g.99619002C>T | CA3022326 | MTTP | c.2246C>T (p.Ala749Val) c.1997C>T (p.Ala666Val) c.2327C>T (p.Ala776Val) c.*693C>T (n.*693C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619003C>A | CA440331341 | MTTP | c.2247C>A (p.Ala749=) c.1998C>A (p.Ala666=) c.2328C>A (p.Ala776=) c.*694C>A (n.*694C>A) | |
| 4 | g.99619003C>G | CA440331342 | MTTP | c.2247C>G (p.Ala749=) c.1998C>G (p.Ala666=) c.2328C>G (p.Ala776=) c.*694C>G (n.*694C>G) | |
| 4 | g.99619003C>T | CA440331343 | MTTP | c.2247C>T (p.Ala749=) c.1998C>T (p.Ala666=) c.2328C>T (p.Ala776=) c.*694C>T (n.*694C>T) | |
| 4 | g.99619004A>C | CA357518184 | MTTP | c.2248A>C (p.Asn750His) c.1999A>C (p.Asn667His) c.2329A>C (p.Asn777His) c.*695A>C (n.*695A>C) | gnomAD v4 |
| 4 | g.99619004A>G | CA357518186 | MTTP | c.2248A>G (p.Asn750Asp) c.1999A>G (p.Asn667Asp) c.2329A>G (p.Asn777Asp) c.*695A>G (n.*695A>G) | |
| 4 | g.99619004A>T | CA357518188 | MTTP | c.2248A>T (p.Asn750Tyr) c.1999A>T (p.Asn667Tyr) c.2329A>T (p.Asn777Tyr) c.*695A>T (n.*695A>T) | |
| 4 | g.99619005A= | CA1480086476 | MTTP | c.2249A= (p.Asn750=) c.2000A= (p.Asn667=) c.2330A= (p.Asn777=) c.*696A= (n.*696A=) | |
| 4 | g.99619005A>C | CA102649388 | MTTP | c.2249A>C (p.Asn750Thr) c.2000A>C (p.Asn667Thr) c.2330A>C (p.Asn777Thr) c.*696A>C (n.*696A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619005A>G | CA3022327 | MTTP | c.2249A>G (p.Asn750Ser) c.2000A>G (p.Asn667Ser) c.2330A>G (p.Asn777Ser) c.*696A>G (n.*696A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619005A>T | CA357518191 | MTTP | c.2249A>T (p.Asn750Ile) c.2000A>T (p.Asn667Ile) c.2330A>T (p.Asn777Ile) c.*696A>T (n.*696A>T) | |
| 4 | g.99619006T>A | CA357518193 | MTTP | c.2250T>A (p.Asn750Lys) c.2001T>A (p.Asn667Lys) c.2331T>A (p.Asn777Lys) c.*697T>A (n.*697T>A) | |
| 4 | g.99619006T>C | CA440331344 | MTTP | c.2250T>C (p.Asn750=) c.2001T>C (p.Asn667=) c.2331T>C (p.Asn777=) c.*697T>C (n.*697T>C) | dbSNP gnomAD v4 |
| 4 | g.99619006T>G | CA357518195 | MTTP | c.2250T>G (p.Asn750Lys) c.2001T>G (p.Asn667Lys) c.2331T>G (p.Asn777Lys) c.*697T>G (n.*697T>G) | |
| 4 | g.99619006T= | CA1480086477 | MTTP | c.2250T= (p.Asn750=) c.2001T= (p.Asn667=) c.2331T= (p.Asn777=) c.*697T= (n.*697T=) | |
| 4 | g.99619007A>C | CA357518201 | MTTP | c.2251A>C (p.Ile751Leu) c.2002A>C (p.Ile668Leu) c.2332A>C (p.Ile778Leu) c.*698A>C (n.*698A>C) | |
| 4 | g.99619007A>G | CA357518199 | MTTP | c.2251A>G (p.Ile751Val) c.2002A>G (p.Ile668Val) c.2332A>G (p.Ile778Val) c.*698A>G (n.*698A>G) | |
| 4 | g.99619007A>T | CA357518197 | MTTP | c.2251A>T (p.Ile751Leu) c.2002A>T (p.Ile668Leu) c.2332A>T (p.Ile778Leu) c.*698A>T (n.*698A>T) | |
| 4 | g.99619008T>A | CA357518203 | MTTP | c.2252T>A (p.Ile751Lys) c.2003T>A (p.Ile668Lys) c.2333T>A (p.Ile778Lys) c.*699T>A (n.*699T>A) |