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.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.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 |
| 14 | g.91273442A>C | CA390610354 | CCDC88C | c.5270T>G (p.Leu1757Arg) c.842T>G (p.Leu281Arg) c.1498T>G c.5162T>G (p.Leu1721Arg) c.2351T>G (p.Leu784Arg) | |
| 14 | g.91273442A>G | CA390610351 | CCDC88C | c.5270T>C (p.Leu1757Pro) c.842T>C (p.Leu281Pro) c.1498T>C c.5162T>C (p.Leu1721Pro) c.2351T>C (p.Leu784Pro) | |
| 14 | g.91273442A>T | CA390610349 | CCDC88C | c.5270T>A (p.Leu1757Gln) c.842T>A (p.Leu281Gln) c.1498T>A c.5162T>A (p.Leu1721Gln) c.2351T>A (p.Leu784Gln) | gnomAD v4 |
| 14 | g.91273443G>A | CA487829272 | CCDC88C | c.5269C>T (p.Leu1757=) c.841C>T (p.Leu281=) c.1497C>T c.5161C>T (p.Leu1721=) c.2350C>T (p.Leu784=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273443G>C | CA390610357 | CCDC88C | c.5269C>G (p.Leu1757Val) c.841C>G (p.Leu281Val) c.1497C>G c.5161C>G (p.Leu1721Val) c.2350C>G (p.Leu784Val) | |
| 14 | g.91273443G= | CA2154902372 | CCDC88C | c.5269C= (p.Leu1757=) c.841C= (p.Leu281=) c.1497C= c.5161C= (p.Leu1721=) c.2350C= (p.Leu784=) | |
| 14 | g.91273443G>T | CA390610359 | CCDC88C | c.5269C>A (p.Leu1757Met) c.841C>A (p.Leu281Met) c.1497C>A c.5161C>A (p.Leu1721Met) c.2350C>A (p.Leu784Met) | gnomAD v4 |
| 14 | g.91273444T>A | CA390610363 | CCDC88C | c.5268A>T (p.Arg1756Ser) c.840A>T (p.Arg280Ser) c.1496A>T c.5160A>T (p.Arg1720Ser) c.2349A>T (p.Arg783Ser) | gnomAD v4 |
| 14 | g.91273444T>C | CA487829274 | CCDC88C | c.5268A>G (p.Arg1756=) c.840A>G (p.Arg280=) c.1496A>G c.5160A>G (p.Arg1720=) c.2349A>G (p.Arg783=) | |
| 14 | g.91273444T>G | CA390610365 | CCDC88C | c.5268A>C (p.Arg1756Ser) c.840A>C (p.Arg280Ser) c.1496A>C c.5160A>C (p.Arg1720Ser) c.2349A>C (p.Arg783Ser) | |
| 14 | g.91273445C>A | CA390610368 | CCDC88C | c.5267G>T (p.Arg1756Ile) c.839G>T (p.Arg280Ile) c.1495G>T c.5159G>T (p.Arg1720Ile) c.2348G>T (p.Arg783Ile) | gnomAD v4 |
| 14 | g.91273445C>G | CA390610371 | CCDC88C | c.5267G>C (p.Arg1756Thr) c.839G>C (p.Arg280Thr) c.1495G>C c.5159G>C (p.Arg1720Thr) c.2348G>C (p.Arg783Thr) | |
| 14 | g.91273445C>T | CA390610373 | CCDC88C | c.5267G>A (p.Arg1756Lys) c.839G>A (p.Arg280Lys) c.1495G>A c.5159G>A (p.Arg1720Lys) c.2348G>A (p.Arg783Lys) | |
| 14 | g.91273445_91273447delinsCTG | CA2154902376 | CCDC88C | c.5265_5267delinsCAG (p.Phe1755=) c.837_839delinsCAG (p.Phe279=) c.1493_1495delinsCAG c.5157_5159delinsCAG (p.Phe1719=) c.2346_2348delinsCAG (p.Phe782=) | |
| 14 | g.91273446T>A | CA390610376 | CCDC88C | c.5266A>T (p.Arg1756Ter) c.838A>T (p.Arg280Ter) c.1494A>T c.5158A>T (p.Arg1720Ter) c.2347A>T (p.Arg783Ter) | |
| 14 | g.91273446T>C | CA390610377 | CCDC88C | c.5266A>G (p.Arg1756Gly) c.838A>G (p.Arg280Gly) c.1494A>G c.5158A>G (p.Arg1720Gly) c.2347A>G (p.Arg783Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273446T>G | CA487829275 | CCDC88C | c.5266A>C (p.Arg1756=) c.838A>C (p.Arg280=) c.1494A>C c.5158A>C (p.Arg1720=) c.2347A>C (p.Arg783=) | |
| 14 | g.91273446T= | CA2154902382 | CCDC88C | c.5266A= (p.Arg1756=) c.838A= (p.Arg280=) c.1494A= c.5158A= (p.Arg1720=) c.2347A= (p.Arg783=) | |
| 14 | g.91273446_91273447del | CA913190512 | CCDC88C | c.5265_5266del (p.Phe1755LeufsTer4) c.837_838del (p.Phe279LeufsTer4) c.1493_1494del c.5157_5158del (p.Phe1719LeufsTer4) c.2346_2347del (p.Phe782LeufsTer4) | ClinVar dbSNP |
| 14 | g.91273447G>A | CA487829276 | CCDC88C | c.5265C>T (p.Phe1755=) c.837C>T (p.Phe279=) c.1493C>T c.5157C>T (p.Phe1719=) c.2346C>T (p.Phe782=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273447G>C | CA390610380 | CCDC88C | c.5265C>G (p.Phe1755Leu) c.837C>G (p.Phe279Leu) c.1493C>G c.5157C>G (p.Phe1719Leu) c.2346C>G (p.Phe782Leu) | |
| 14 | g.91273447G= | CA2154902385 | CCDC88C | c.5265C= (p.Phe1755=) c.837C= (p.Phe279=) c.1493C= c.5157C= (p.Phe1719=) c.2346C= (p.Phe782=) | |
| 14 | g.91273447G>T | CA390610381 | CCDC88C | c.5265C>A (p.Phe1755Leu) c.837C>A (p.Phe279Leu) c.1493C>A c.5157C>A (p.Phe1719Leu) c.2346C>A (p.Phe782Leu) | |
| 14 | g.91273448A>C | CA390610384 | CCDC88C | c.5264T>G (p.Phe1755Cys) c.836T>G (p.Phe279Cys) c.1492T>G c.5156T>G (p.Phe1719Cys) c.2345T>G (p.Phe782Cys) | |
| 14 | g.91273448A>G | CA390610386 | CCDC88C | c.5264T>C (p.Phe1755Ser) c.836T>C (p.Phe279Ser) c.1492T>C c.5156T>C (p.Phe1719Ser) c.2345T>C (p.Phe782Ser) | |
| 14 | g.91273448A>T | CA390610388 | CCDC88C | c.5264T>A (p.Phe1755Tyr) c.836T>A (p.Phe279Tyr) c.1492T>A c.5156T>A (p.Phe1719Tyr) c.2345T>A (p.Phe782Tyr) | |
| 14 | g.91273449dup | CA709862266 | CCDC88C | c.5264dup (p.Arg1756GlnfsTer4) c.836dup (p.Arg280GlnfsTer4) c.1492dup c.5156dup (p.Arg1720GlnfsTer4) c.2345dup (p.Arg783GlnfsTer4) | dbSNP |
| 14 | g.91273449A>C | CA390610391 | CCDC88C | c.5263T>G (p.Phe1755Val) c.835T>G (p.Phe279Val) c.1491T>G c.5155T>G (p.Phe1719Val) c.2344T>G (p.Phe782Val) | |
| 14 | g.91273449A>G | CA390610395 | CCDC88C | c.5263T>C (p.Phe1755Leu) c.835T>C (p.Phe279Leu) c.1491T>C c.5155T>C (p.Phe1719Leu) c.2344T>C (p.Phe782Leu) | |
| 14 | g.91273449A>T | CA390610393 | CCDC88C | c.5263T>A (p.Phe1755Ile) c.835T>A (p.Phe279Ile) c.1491T>A c.5155T>A (p.Phe1719Ile) c.2344T>A (p.Phe782Ile) | |
| 14 | g.91273450G>A | CA487829277 | CCDC88C | c.5262C>T (p.Asn1754=) c.834C>T (p.Asn278=) c.1490C>T c.5154C>T (p.Asn1718=) c.2343C>T (p.Asn781=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273450G>C | CA390610397 | CCDC88C | c.5262C>G (p.Asn1754Lys) c.834C>G (p.Asn278Lys) c.1490C>G c.5154C>G (p.Asn1718Lys) c.2343C>G (p.Asn781Lys) |