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 |
|---|---|---|---|---|---|
| 14 | g.91273428C>A | CA390610267 | CCDC88C | c.5284G>T (p.Ala1762Ser) c.856G>T (p.Ala286Ser) c.1512G>T c.5176G>T (p.Ala1726Ser) c.2365G>T (p.Ala789Ser) | gnomAD v4 |
| 14 | g.91273428C= | CA2154902342 | CCDC88C | c.5284G= (p.Ala1762=) c.856G= (p.Ala286=) c.1512G= c.5176G= (p.Ala1726=) c.2365G= (p.Ala789=) | |
| 14 | g.91273428C>G | CA390610269 | CCDC88C | c.5284G>C (p.Ala1762Pro) c.856G>C (p.Ala286Pro) c.1512G>C c.5176G>C (p.Ala1726Pro) c.2365G>C (p.Ala789Pro) | |
| 14 | g.91273428C>T | CA7308684 | CCDC88C | c.5284G>A (p.Ala1762Thr) c.856G>A (p.Ala286Thr) c.1512G>A c.5176G>A (p.Ala1726Thr) c.2365G>A (p.Ala789Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273429C>A | CA390610274 | CCDC88C | c.5283G>T (p.Glu1761Asp) c.855G>T (p.Glu285Asp) c.1511G>T c.5175G>T (p.Glu1725Asp) c.2364G>T (p.Glu788Asp) | gnomAD v4 |
| 14 | g.91273429C>G | CA390610276 | CCDC88C | c.5283G>C (p.Glu1761Asp) c.855G>C (p.Glu285Asp) c.1511G>C c.5175G>C (p.Glu1725Asp) c.2364G>C (p.Glu788Asp) | |
| 14 | g.91273429C>T | CA487829246 | CCDC88C | c.5283G>A (p.Glu1761=) c.855G>A (p.Glu285=) c.1511G>A c.5175G>A (p.Glu1725=) c.2364G>A (p.Glu788=) | |
| 14 | g.91273430T>A | CA390610279 | CCDC88C | c.5282A>T (p.Glu1761Val) c.854A>T (p.Glu285Val) c.1510A>T c.5174A>T (p.Glu1725Val) c.2363A>T (p.Glu788Val) | |
| 14 | g.91273430T>C | CA390610283 | CCDC88C | c.5282A>G (p.Glu1761Gly) c.854A>G (p.Glu285Gly) c.1510A>G c.5174A>G (p.Glu1725Gly) c.2363A>G (p.Glu788Gly) | gnomAD v4 |
| 14 | g.91273430T>G | CA390610281 | CCDC88C | c.5282A>C (p.Glu1761Ala) c.854A>C (p.Glu285Ala) c.1510A>C c.5174A>C (p.Glu1725Ala) c.2363A>C (p.Glu788Ala) | |
| 14 | g.91273431C>A | CA390610286 | CCDC88C | c.5281G>T (p.Glu1761Ter) c.853G>T (p.Glu285Ter) c.1509G>T c.5173G>T (p.Glu1725Ter) c.2362G>T (p.Glu788Ter) | gnomAD v4 |
| 14 | g.91273431C= | CA2154902348 | CCDC88C | c.5281G= (p.Glu1761=) c.853G= (p.Glu285=) c.1509G= c.5173G= (p.Glu1725=) c.2362G= (p.Glu788=) | |
| 14 | g.91273431C>G | CA390610289 | CCDC88C | c.5281G>C (p.Glu1761Gln) c.853G>C (p.Glu285Gln) c.1509G>C c.5173G>C (p.Glu1725Gln) c.2362G>C (p.Glu788Gln) | |
| 14 | g.91273431C>T | CA7308685 | CCDC88C | c.5281G>A (p.Glu1761Lys) c.853G>A (p.Glu285Lys) c.1509G>A c.5173G>A (p.Glu1725Lys) c.2362G>A (p.Glu788Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273432G>A | CA7308686 | CCDC88C | c.5280C>T (p.Ala1760=) c.852C>T (p.Ala284=) c.1508C>T c.5172C>T (p.Ala1724=) c.2361C>T (p.Ala787=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273432G>C | CA7308687 | CCDC88C | c.5280C>G (p.Ala1760=) c.852C>G (p.Ala284=) c.1508C>G c.5172C>G (p.Ala1724=) c.2361C>G (p.Ala787=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273432G= | CA2154902351 | CCDC88C | c.5280C= (p.Ala1760=) c.852C= (p.Ala284=) c.1508C= c.5172C= (p.Ala1724=) c.2361C= (p.Ala787=) | |
| 14 | g.91273432G>T | CA487829252 | CCDC88C | c.5280C>A (p.Ala1760=) c.852C>A (p.Ala284=) c.1508C>A c.5172C>A (p.Ala1724=) c.2361C>A (p.Ala787=) | gnomAD v4 |
| 14 | g.91273433G>A | CA390610298 | CCDC88C | c.5279C>T (p.Ala1760Val) c.851C>T (p.Ala284Val) c.1507C>T c.5171C>T (p.Ala1724Val) c.2360C>T (p.Ala787Val) | gnomAD v4 |
| 14 | g.91273433G>C | CA390610301 | CCDC88C | c.5279C>G (p.Ala1760Gly) c.851C>G (p.Ala284Gly) c.1507C>G c.5171C>G (p.Ala1724Gly) c.2360C>G (p.Ala787Gly) | |
| 14 | g.91273433G>T | CA390610303 | CCDC88C | c.5279C>A (p.Ala1760Asp) c.851C>A (p.Ala284Asp) c.1507C>A c.5171C>A (p.Ala1724Asp) c.2360C>A (p.Ala787Asp) | |
| 14 | g.91273434C>A | CA390610307 | CCDC88C | c.5278G>T (p.Ala1760Ser) c.850G>T (p.Ala284Ser) c.1506G>T c.5170G>T (p.Ala1724Ser) c.2359G>T (p.Ala787Ser) | gnomAD v4 |
| 14 | g.91273434C= | CA2154902356 | CCDC88C | c.5278G= (p.Ala1760=) c.850G= (p.Ala284=) c.1506G= c.5170G= (p.Ala1724=) c.2359G= (p.Ala787=) | |
| 14 | g.91273434C>G | CA390610309 | CCDC88C | c.5278G>C (p.Ala1760Pro) c.850G>C (p.Ala284Pro) c.1506G>C c.5170G>C (p.Ala1724Pro) c.2359G>C (p.Ala787Pro) | |
| 14 | g.91273434C>T | CA390610311 | CCDC88C | c.5278G>A (p.Ala1760Thr) c.850G>A (p.Ala284Thr) c.1506G>A c.5170G>A (p.Ala1724Thr) c.2359G>A (p.Ala787Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273435C>A | CA390610314 | CCDC88C | c.5277G>T (p.Glu1759Asp) c.849G>T (p.Glu283Asp) c.1505G>T c.5169G>T (p.Glu1723Asp) c.2358G>T (p.Glu786Asp) | gnomAD v4 |
| 14 | g.91273435C= | CA2154902360 | CCDC88C | c.5277G= (p.Glu1759=) c.849G= (p.Glu283=) c.1505G= c.5169G= (p.Glu1723=) c.2358G= (p.Glu786=) | |
| 14 | g.91273435C>G | CA390610316 | CCDC88C | c.5277G>C (p.Glu1759Asp) c.849G>C (p.Glu283Asp) c.1505G>C c.5169G>C (p.Glu1723Asp) c.2358G>C (p.Glu786Asp) | gnomAD v4 |
| 14 | g.91273435C>T | CA265518321 | CCDC88C | c.5277G>A (p.Glu1759=) c.849G>A (p.Glu283=) c.1505G>A c.5169G>A (p.Glu1723=) c.2358G>A (p.Glu786=) | dbSNP |
| 14 | g.91273435_91273439delinsCTCAG | CA2154902361 | CCDC88C | c.5273_5277delinsCTGAG (p.Thr1758=) c.845_849delinsCTGAG (p.Thr282=) c.1501_1505delinsCTGAG c.5165_5169delinsCTGAG (p.Thr1722=) c.2354_2358delinsCTGAG (p.Thr785=) | |
| 14 | g.91273436T>A | CA390610318 | CCDC88C | c.5276A>T (p.Glu1759Val) c.848A>T (p.Glu283Val) c.1504A>T c.5168A>T (p.Glu1723Val) c.2357A>T (p.Glu786Val) | |
| 14 | g.91273436T>C | CA390610322 | CCDC88C | c.5276A>G (p.Glu1759Gly) c.848A>G (p.Glu283Gly) c.1504A>G c.5168A>G (p.Glu1723Gly) c.2357A>G (p.Glu786Gly) | gnomAD v4 |
| 14 | g.91273436T>G | CA390610320 | CCDC88C | c.5276A>C (p.Glu1759Ala) c.848A>C (p.Glu283Ala) c.1504A>C c.5168A>C (p.Glu1723Ala) c.2357A>C (p.Glu786Ala) | |
| 14 | g.91273442_91273445del | CA487829257 | CCDC88C | c.5273_5276del (p.Thr1758ArgfsTer?) c.845_848del (p.Thr282ArgfsTer?) c.1501_1504del c.5165_5168del (p.Thr1722ArgfsTer?) c.2354_2357del (p.Thr785ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273437C>A | CA390610326 | CCDC88C | c.5275G>T (p.Glu1759Ter) c.847G>T (p.Glu283Ter) c.1503G>T c.5167G>T (p.Glu1723Ter) c.2356G>T (p.Glu786Ter) | gnomAD v4 |
| 14 | g.91273437C>G | CA390610328 | CCDC88C | c.5275G>C (p.Glu1759Gln) c.847G>C (p.Glu283Gln) c.1503G>C c.5167G>C (p.Glu1723Gln) c.2356G>C (p.Glu786Gln) | |
| 14 | g.91273437C>T | CA390610330 | CCDC88C | c.5275G>A (p.Glu1759Lys) c.847G>A (p.Glu283Lys) c.1503G>A c.5167G>A (p.Glu1723Lys) c.2356G>A (p.Glu786Lys) | gnomAD v4 |
| 14 | g.91273438A>C | CA487829261 | CCDC88C | c.5274T>G (p.Thr1758=) c.846T>G (p.Thr282=) c.1502T>G c.5166T>G (p.Thr1722=) c.2355T>G (p.Thr785=) | |
| 14 | g.91273438A>G | CA487829260 | CCDC88C | c.5274T>C (p.Thr1758=) c.846T>C (p.Thr282=) c.1502T>C c.5166T>C (p.Thr1722=) c.2355T>C (p.Thr785=) | gnomAD v4 |
| 14 | g.91273438A>T | CA487829259 | CCDC88C | c.5274T>A (p.Thr1758=) c.846T>A (p.Thr282=) c.1502T>A c.5166T>A (p.Thr1722=) c.2355T>A (p.Thr785=) | |
| 14 | g.91273439G>A | CA390610333 | CCDC88C | c.5273C>T (p.Thr1758Ile) c.845C>T (p.Thr282Ile) c.1501C>T c.5165C>T (p.Thr1722Ile) c.2354C>T (p.Thr785Ile) | gnomAD v4 |
| 14 | g.91273439G>C | CA390610335 | CCDC88C | c.5273C>G (p.Thr1758Ser) c.845C>G (p.Thr282Ser) c.1501C>G c.5165C>G (p.Thr1722Ser) c.2354C>G (p.Thr785Ser) | |
| 14 | g.91273439G>T | CA390610337 | CCDC88C | c.5273C>A (p.Thr1758Asn) c.845C>A (p.Thr282Asn) c.1501C>A c.5165C>A (p.Thr1722Asn) c.2354C>A (p.Thr785Asn) | gnomAD v4 |
| 14 | g.91273440T>A | CA390610341 | CCDC88C | c.5272A>T (p.Thr1758Ser) c.844A>T (p.Thr282Ser) c.1500A>T c.5164A>T (p.Thr1722Ser) c.2353A>T (p.Thr785Ser) | |
| 14 | g.91273440T>C | CA390610343 | CCDC88C | c.5272A>G (p.Thr1758Ala) c.844A>G (p.Thr282Ala) c.1500A>G c.5164A>G (p.Thr1722Ala) c.2353A>G (p.Thr785Ala) | gnomAD v4 |
| 14 | g.91273440T>G | CA390610345 | CCDC88C | c.5272A>C (p.Thr1758Pro) c.844A>C (p.Thr282Pro) c.1500A>C c.5164A>C (p.Thr1722Pro) c.2353A>C (p.Thr785Pro) | |
| 14 | g.91273441C>A | CA487829266 | CCDC88C | c.5271G>T (p.Leu1757=) c.843G>T (p.Leu281=) c.1499G>T c.5163G>T (p.Leu1721=) c.2352G>T (p.Leu784=) | gnomAD v4 |
| 14 | g.91273441C= | CA2154902368 | CCDC88C | c.5271G= (p.Leu1757=) c.843G= (p.Leu281=) c.1499G= c.5163G= (p.Leu1721=) c.2352G= (p.Leu784=) | |
| 14 | g.91273441C>G | CA487829270 | CCDC88C | c.5271G>C (p.Leu1757=) c.843G>C (p.Leu281=) c.1499G>C c.5163G>C (p.Leu1721=) c.2352G>C (p.Leu784=) | |
| 14 | g.91273441C>T | CA487829267 | CCDC88C | c.5271G>A (p.Leu1757=) c.843G>A (p.Leu281=) c.1499G>A c.5163G>A (p.Leu1721=) c.2352G>A (p.Leu784=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |