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 |
|---|---|---|---|---|---|
| 4 | g.125491538del | CA441374483 | FAT4 | c.14722del (p.Gln4908ArgfsTer14) c.9493del (p.Gln3165ArgfsTer14) c.9439del (p.Gln3147ArgfsTer14) c.14716del (p.Gln4906ArgfsTer14) c.14719del (p.Gln4907ArgfsTer14) | COSMIC COSMIC |
| 4 | g.125491538C>A | CA358143366 | FAT4 | c.14722C>A (p.Gln4908Lys) c.9493C>A (p.Gln3165Lys) c.9439C>A (p.Gln3147Lys) c.14716C>A (p.Gln4906Lys) c.14719C>A (p.Gln4907Lys) | |
| 4 | g.125491538C>G | CA358143368 | FAT4 | c.14722C>G (p.Gln4908Glu) c.9493C>G (p.Gln3165Glu) c.9439C>G (p.Gln3147Glu) c.14716C>G (p.Gln4906Glu) c.14719C>G (p.Gln4907Glu) | |
| 4 | g.125491538C>T | CA358143370 | FAT4 | c.14722C>T (p.Gln4908Ter) c.9493C>T (p.Gln3165Ter) c.9439C>T (p.Gln3147Ter) c.14716C>T (p.Gln4906Ter) c.14719C>T (p.Gln4907Ter) | COSMIC COSMIC |
| 4 | g.125491539A>C | CA358143375 | FAT4 | c.14723A>C (p.Gln4908Pro) c.9494A>C (p.Gln3165Pro) c.9440A>C (p.Gln3147Pro) c.14717A>C (p.Gln4906Pro) c.14720A>C (p.Gln4907Pro) | |
| 4 | g.125491539A>G | CA358143373 | FAT4 | c.14723A>G (p.Gln4908Arg) c.9494A>G (p.Gln3165Arg) c.9440A>G (p.Gln3147Arg) c.14717A>G (p.Gln4906Arg) c.14720A>G (p.Gln4907Arg) | |
| 4 | g.125491539A>T | CA358143374 | FAT4 | c.14723A>T (p.Gln4908Leu) c.9494A>T (p.Gln3165Leu) c.9440A>T (p.Gln3147Leu) c.14717A>T (p.Gln4906Leu) c.14720A>T (p.Gln4907Leu) | |
| 4 | g.125491540G>A | CA441374493 | FAT4 | c.14724G>A (p.Gln4908=) c.9495G>A (p.Gln3165=) c.9441G>A (p.Gln3147=) c.14718G>A (p.Gln4906=) c.14721G>A (p.Gln4907=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125491540G>C | CA358143376 | FAT4 | c.14724G>C (p.Gln4908His) c.9495G>C (p.Gln3165His) c.9441G>C (p.Gln3147His) c.14718G>C (p.Gln4906His) c.14721G>C (p.Gln4907His) | gnomAD v4 |
| 4 | g.125491540G= | CA1491680347 | FAT4 | c.14724G= (p.Gln4908=) c.9495G= (p.Gln3165=) c.9441G= (p.Gln3147=) c.14718G= (p.Gln4906=) c.14721G= (p.Gln4907=) | |
| 4 | g.125491540G>T | CA358143378 | FAT4 | c.14724G>T (p.Gln4908His) c.9495G>T (p.Gln3165His) c.9441G>T (p.Gln3147His) c.14718G>T (p.Gln4906His) c.14721G>T (p.Gln4907His) | |
| 4 | g.125491541G>A | CA358143380 | FAT4 | c.14725G>A (p.Ala4909Thr) c.9496G>A (p.Ala3166Thr) c.9442G>A (p.Ala3148Thr) c.14719G>A (p.Ala4907Thr) c.14722G>A (p.Ala4908Thr) | ClinVar |
| 4 | g.125491541G>C | CA358143382 | FAT4 | c.14725G>C (p.Ala4909Pro) c.9496G>C (p.Ala3166Pro) c.9442G>C (p.Ala3148Pro) c.14719G>C (p.Ala4907Pro) c.14722G>C (p.Ala4908Pro) | |
| 4 | g.125491541G>T | CA358143384 | FAT4 | c.14725G>T (p.Ala4909Ser) c.9496G>T (p.Ala3166Ser) c.9442G>T (p.Ala3148Ser) c.14719G>T (p.Ala4907Ser) c.14722G>T (p.Ala4908Ser) | |
| 4 | g.125491542C>A | CA358143386 | FAT4 | c.14726C>A (p.Ala4909Glu) c.9497C>A (p.Ala3166Glu) c.9443C>A (p.Ala3148Glu) c.14720C>A (p.Ala4907Glu) c.14723C>A (p.Ala4908Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125491542C= | CA1491680350 | FAT4 | c.14726C= (p.Ala4909=) c.9497C= (p.Ala3166=) c.9443C= (p.Ala3148=) c.14720C= (p.Ala4907=) c.14723C= (p.Ala4908=) | |
| 4 | g.125491542C>G | CA358143388 | FAT4 | c.14726C>G (p.Ala4909Gly) c.9497C>G (p.Ala3166Gly) c.9443C>G (p.Ala3148Gly) c.14720C>G (p.Ala4907Gly) c.14723C>G (p.Ala4908Gly) | |
| 4 | g.125491542C>T | CA3074616 | FAT4 | c.14726C>T (p.Ala4909Val) c.9497C>T (p.Ala3166Val) c.9443C>T (p.Ala3148Val) c.14720C>T (p.Ala4907Val) c.14723C>T (p.Ala4908Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.125491543A>C | CA441374496 | FAT4 | c.14727A>C (p.Ala4909=) c.9498A>C (p.Ala3166=) c.9444A>C (p.Ala3148=) c.14721A>C (p.Ala4907=) c.14724A>C (p.Ala4908=) | |
| 4 | g.125491543A>G | CA441374498 | FAT4 | c.14727A>G (p.Ala4909=) c.9498A>G (p.Ala3166=) c.9444A>G (p.Ala3148=) c.14721A>G (p.Ala4907=) c.14724A>G (p.Ala4908=) | |
| 4 | g.125491543A>T | CA441374497 | FAT4 | c.14727A>T (p.Ala4909=) c.9498A>T (p.Ala3166=) c.9444A>T (p.Ala3148=) c.14721A>T (p.Ala4907=) c.14724A>T (p.Ala4908=) | |
| 4 | g.125491544G>A | CA358143391 | FAT4 | c.14728G>A (p.Ala4910Thr) c.9499G>A (p.Ala3167Thr) c.9445G>A (p.Ala3149Thr) c.14722G>A (p.Ala4908Thr) c.14725G>A (p.Ala4909Thr) | |
| 4 | g.125491544G>C | CA358143393 | FAT4 | c.14728G>C (p.Ala4910Pro) c.9499G>C (p.Ala3167Pro) c.9445G>C (p.Ala3149Pro) c.14722G>C (p.Ala4908Pro) c.14725G>C (p.Ala4909Pro) | |
| 4 | g.125491544G>T | CA358143395 | FAT4 | c.14728G>T (p.Ala4910Ser) c.9499G>T (p.Ala3167Ser) c.9445G>T (p.Ala3149Ser) c.14722G>T (p.Ala4908Ser) c.14725G>T (p.Ala4909Ser) | |
| 4 | g.125491545C>A | CA358143398 | FAT4 | c.14729C>A (p.Ala4910Glu) c.9500C>A (p.Ala3167Glu) c.9446C>A (p.Ala3149Glu) c.14723C>A (p.Ala4908Glu) c.14726C>A (p.Ala4909Glu) | COSMIC COSMIC |
| 4 | g.125491545C>G | CA358143401 | FAT4 | c.14729C>G (p.Ala4910Gly) c.9500C>G (p.Ala3167Gly) c.9446C>G (p.Ala3149Gly) c.14723C>G (p.Ala4908Gly) c.14726C>G (p.Ala4909Gly) | |
| 4 | g.125491545C>T | CA358143400 | FAT4 | c.14729C>T (p.Ala4910Val) c.9500C>T (p.Ala3167Val) c.9446C>T (p.Ala3149Val) c.14723C>T (p.Ala4908Val) c.14726C>T (p.Ala4909Val) | |
| 4 | g.125491546A= | CA1491680353 | FAT4 | c.14730A= (p.Ala4910=) c.9501A= (p.Ala3167=) c.9447A= (p.Ala3149=) c.14724A= (p.Ala4908=) c.14727A= (p.Ala4909=) | |
| 4 | g.125491546A>C | CA441374500 | FAT4 | c.14730A>C (p.Ala4910=) c.9501A>C (p.Ala3167=) c.9447A>C (p.Ala3149=) c.14724A>C (p.Ala4908=) c.14727A>C (p.Ala4909=) | |
| 4 | g.125491546A>G | CA441374501 | FAT4 | c.14730A>G (p.Ala4910=) c.9501A>G (p.Ala3167=) c.9447A>G (p.Ala3149=) c.14724A>G (p.Ala4908=) c.14727A>G (p.Ala4909=) | |
| 4 | g.125491546A>T | CA441374502 | FAT4 | c.14730A>T (p.Ala4910=) c.9501A>T (p.Ala3167=) c.9447A>T (p.Ala3149=) c.14724A>T (p.Ala4908=) c.14727A>T (p.Ala4909=) | dbSNP |
| 4 | g.125491547G>A | CA358143404 | FAT4 | c.14731G>A (p.Ala4911Thr) c.9502G>A (p.Ala3168Thr) c.9448G>A (p.Ala3150Thr) c.14725G>A (p.Ala4909Thr) c.14728G>A (p.Ala4910Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125491547G>C | CA358143408 | FAT4 | c.14731G>C (p.Ala4911Pro) c.9502G>C (p.Ala3168Pro) c.9448G>C (p.Ala3150Pro) c.14725G>C (p.Ala4909Pro) c.14728G>C (p.Ala4910Pro) | |
| 4 | g.125491547G= | CA1491680356 | FAT4 | c.14731G= (p.Ala4911=) c.9502G= (p.Ala3168=) c.9448G= (p.Ala3150=) c.14725G= (p.Ala4909=) c.14728G= (p.Ala4910=) | |
| 4 | g.125491547G>T | CA358143405 | FAT4 | c.14731G>T (p.Ala4911Ser) c.9502G>T (p.Ala3168Ser) c.9448G>T (p.Ala3150Ser) c.14725G>T (p.Ala4909Ser) c.14728G>T (p.Ala4910Ser) | COSMIC COSMIC |
| 4 | g.125491548C>A | CA358143410 | FAT4 | c.14732C>A (p.Ala4911Glu) c.9503C>A (p.Ala3168Glu) c.9449C>A (p.Ala3150Glu) c.14726C>A (p.Ala4909Glu) c.14729C>A (p.Ala4910Glu) | |
| 4 | g.125491548C= | CA1491680358 | FAT4 | c.14732C= (p.Ala4911=) c.9503C= (p.Ala3168=) c.9449C= (p.Ala3150=) c.14726C= (p.Ala4909=) c.14729C= (p.Ala4910=) | |
| 4 | g.125491548C>G | CA358143412 | FAT4 | c.14732C>G (p.Ala4911Gly) c.9503C>G (p.Ala3168Gly) c.9449C>G (p.Ala3150Gly) c.14726C>G (p.Ala4909Gly) c.14729C>G (p.Ala4910Gly) | |
| 4 | g.125491548C>T | CA3074617 | FAT4 | c.14732C>T (p.Ala4911Val) c.9503C>T (p.Ala3168Val) c.9449C>T (p.Ala3150Val) c.14726C>T (p.Ala4909Val) c.14729C>T (p.Ala4910Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125491549A= | CA1491680360 | FAT4 | c.14733A= (p.Ala4911=) c.9504A= (p.Ala3168=) c.9450A= (p.Ala3150=) c.14727A= (p.Ala4909=) c.14730A= (p.Ala4910=) | |
| 4 | g.125491549A>C | CA104876916 | FAT4 | c.14733A>C (p.Ala4911=) c.9504A>C (p.Ala3168=) c.9450A>C (p.Ala3150=) c.14727A>C (p.Ala4909=) c.14730A>C (p.Ala4910=) | dbSNP |
| 4 | g.125491549A>G | CA441374504 | FAT4 | c.14733A>G (p.Ala4911=) c.9504A>G (p.Ala3168=) c.9450A>G (p.Ala3150=) c.14727A>G (p.Ala4909=) c.14730A>G (p.Ala4910=) | |
| 4 | g.125491549A>T | CA441374506 | FAT4 | c.14733A>T (p.Ala4911=) c.9504A>T (p.Ala3168=) c.9450A>T (p.Ala3150=) c.14727A>T (p.Ala4909=) c.14730A>T (p.Ala4910=) | |
| 4 | g.125491550C>A | CA358143414 | FAT4 | c.14734C>A (p.Pro4912Thr) c.9505C>A (p.Pro3169Thr) c.9451C>A (p.Pro3151Thr) c.14728C>A (p.Pro4910Thr) c.14731C>A (p.Pro4911Thr) | |
| 4 | g.125491550C>G | CA358143416 | FAT4 | c.14734C>G (p.Pro4912Ala) c.9505C>G (p.Pro3169Ala) c.9451C>G (p.Pro3151Ala) c.14728C>G (p.Pro4910Ala) c.14731C>G (p.Pro4911Ala) | |
| 4 | g.125491550C>T | CA358143418 | FAT4 | c.14734C>T (p.Pro4912Ser) c.9505C>T (p.Pro3169Ser) c.9451C>T (p.Pro3151Ser) c.14728C>T (p.Pro4910Ser) c.14731C>T (p.Pro4911Ser) | gnomAD v4 COSMIC COSMIC |
| 4 | g.125491551C>A | CA358143420 | FAT4 | c.14735C>A (p.Pro4912Gln) c.9506C>A (p.Pro3169Gln) c.9452C>A (p.Pro3151Gln) c.14729C>A (p.Pro4910Gln) c.14732C>A (p.Pro4911Gln) | |
| 4 | g.125491551C= | CA1491680364 | FAT4 | c.14735C= (p.Pro4912=) c.9506C= (p.Pro3169=) c.9452C= (p.Pro3151=) c.14729C= (p.Pro4910=) c.14732C= (p.Pro4911=) | |
| 4 | g.125491551C>G | CA358143422 | FAT4 | c.14735C>G (p.Pro4912Arg) c.9506C>G (p.Pro3169Arg) c.9452C>G (p.Pro3151Arg) c.14729C>G (p.Pro4910Arg) c.14732C>G (p.Pro4911Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125491551C>T | CA358143424 | FAT4 | c.14735C>T (p.Pro4912Leu) c.9506C>T (p.Pro3169Leu) c.9452C>T (p.Pro3151Leu) c.14729C>T (p.Pro4910Leu) c.14732C>T (p.Pro4911Leu) |