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.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) | |
| 4 | g.125491552A>C | CA441374509 | FAT4 | c.14736A>C (p.Pro4912=) c.9507A>C (p.Pro3169=) c.9453A>C (p.Pro3151=) c.14730A>C (p.Pro4910=) c.14733A>C (p.Pro4911=) | |
| 4 | g.125491552A>G | CA441374510 | FAT4 | c.14736A>G (p.Pro4912=) c.9507A>G (p.Pro3169=) c.9453A>G (p.Pro3151=) c.14730A>G (p.Pro4910=) c.14733A>G (p.Pro4911=) | |
| 4 | g.125491552A>T | CA441374511 | FAT4 | c.14736A>T (p.Pro4912=) c.9507A>T (p.Pro3169=) c.9453A>T (p.Pro3151=) c.14730A>T (p.Pro4910=) c.14733A>T (p.Pro4911=) | gnomAD v4 |
| 4 | g.125491553G>A | CA358143426 | FAT4 | c.14737G>A (p.Gly4913Ser) c.9508G>A (p.Gly3170Ser) c.9454G>A (p.Gly3152Ser) c.14731G>A (p.Gly4911Ser) c.14734G>A (p.Gly4912Ser) | COSMIC COSMIC |
| 4 | g.125491553G>C | CA358143428 | FAT4 | c.14737G>C (p.Gly4913Arg) c.9508G>C (p.Gly3170Arg) c.9454G>C (p.Gly3152Arg) c.14731G>C (p.Gly4911Arg) c.14734G>C (p.Gly4912Arg) | |
| 4 | g.125491553G>T | CA358143430 | FAT4 | c.14737G>T (p.Gly4913Cys) c.9508G>T (p.Gly3170Cys) c.9454G>T (p.Gly3152Cys) c.14731G>T (p.Gly4911Cys) c.14734G>T (p.Gly4912Cys) | |
| 4 | g.125491554G>A | CA3074618 | FAT4 | c.14738G>A (p.Gly4913Asp) c.9509G>A (p.Gly3170Asp) c.9455G>A (p.Gly3152Asp) c.14732G>A (p.Gly4911Asp) c.14735G>A (p.Gly4912Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125491554G>C | CA358143432 | FAT4 | c.14738G>C (p.Gly4913Ala) c.9509G>C (p.Gly3170Ala) c.9455G>C (p.Gly3152Ala) c.14732G>C (p.Gly4911Ala) c.14735G>C (p.Gly4912Ala) | gnomAD v4 |
| 4 | g.125491554G= | CA1491680367 | FAT4 | c.14738G= (p.Gly4913=) c.9509G= (p.Gly3170=) c.9455G= (p.Gly3152=) c.14732G= (p.Gly4911=) c.14735G= (p.Gly4912=) | |
| 4 | g.125491554G>T | CA358143434 | FAT4 | c.14738G>T (p.Gly4913Val) c.9509G>T (p.Gly3170Val) c.9455G>T (p.Gly3152Val) c.14732G>T (p.Gly4911Val) c.14735G>T (p.Gly4912Val) | |
| 4 | g.125491555C>A | CA441374515 | FAT4 | c.14739C>A (p.Gly4913=) c.9510C>A (p.Gly3170=) c.9456C>A (p.Gly3152=) c.14733C>A (p.Gly4911=) c.14736C>A (p.Gly4912=) | |
| 4 | g.125491555C= | CA1491680370 | FAT4 | c.14739C= (p.Gly4913=) c.9510C= (p.Gly3170=) c.9456C= (p.Gly3152=) c.14733C= (p.Gly4911=) c.14736C= (p.Gly4912=) | |
| 4 | g.125491555C>G | CA441374516 | FAT4 | c.14739C>G (p.Gly4913=) c.9510C>G (p.Gly3170=) c.9456C>G (p.Gly3152=) c.14733C>G (p.Gly4911=) c.14736C>G (p.Gly4912=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125491555C>T | CA441374518 | FAT4 | c.14739C>T (p.Gly4913=) c.9510C>T (p.Gly3170=) c.9456C>T (p.Gly3152=) c.14733C>T (p.Gly4911=) c.14736C>T (p.Gly4912=) | |
| 4 | g.125491556A= | CA1491680375 | FAT4 | c.14740A= (p.Thr4914=) c.9511A= (p.Thr3171=) c.9457A= (p.Thr3153=) c.14734A= (p.Thr4912=) c.14737A= (p.Thr4913=) | |
| 4 | g.125491556A>C | CA358143437 | FAT4 | c.14740A>C (p.Thr4914Pro) c.9511A>C (p.Thr3171Pro) c.9457A>C (p.Thr3153Pro) c.14734A>C (p.Thr4912Pro) c.14737A>C (p.Thr4913Pro) | dbSNP |
| 4 | g.125491556A>G | CA358143439 | FAT4 | c.14740A>G (p.Thr4914Ala) c.9511A>G (p.Thr3171Ala) c.9457A>G (p.Thr3153Ala) c.14734A>G (p.Thr4912Ala) c.14737A>G (p.Thr4913Ala) | |
| 4 | g.125491556A>T | CA358143440 | FAT4 | c.14740A>T (p.Thr4914Ser) c.9511A>T (p.Thr3171Ser) c.9457A>T (p.Thr3153Ser) c.14734A>T (p.Thr4912Ser) c.14737A>T (p.Thr4913Ser) | |
| 4 | g.125491557C>A | CA358143443 | FAT4 | c.14741C>A (p.Thr4914Asn) c.9512C>A (p.Thr3171Asn) c.9458C>A (p.Thr3153Asn) c.14735C>A (p.Thr4912Asn) c.14738C>A (p.Thr4913Asn) | |
| 4 | g.125491557C>G | CA358143445 | FAT4 | c.14741C>G (p.Thr4914Ser) c.9512C>G (p.Thr3171Ser) c.9458C>G (p.Thr3153Ser) c.14735C>G (p.Thr4912Ser) c.14738C>G (p.Thr4913Ser) | |
| 4 | g.125491557C>T | CA358143446 | FAT4 | c.14741C>T (p.Thr4914Ile) c.9512C>T (p.Thr3171Ile) c.9458C>T (p.Thr3153Ile) c.14735C>T (p.Thr4912Ile) c.14738C>T (p.Thr4913Ile) | |
| 4 | g.125491558T>A | CA441374521 | FAT4 | c.14742T>A (p.Thr4914=) c.9513T>A (p.Thr3171=) c.9459T>A (p.Thr3153=) c.14736T>A (p.Thr4912=) c.14739T>A (p.Thr4913=) | |
| 4 | g.125491558T>C | CA441374522 | FAT4 | c.14742T>C (p.Thr4914=) c.9513T>C (p.Thr3171=) c.9459T>C (p.Thr3153=) c.14736T>C (p.Thr4912=) c.14739T>C (p.Thr4913=) | |
| 4 | g.125491558T>G | CA441374523 | FAT4 | c.14742T>G (p.Thr4914=) c.9513T>G (p.Thr3171=) c.9459T>G (p.Thr3153=) c.14736T>G (p.Thr4912=) c.14739T>G (p.Thr4913=) | |
| 4 | g.125491559G>A | CA358143449 | FAT4 | c.14743G>A (p.Ala4915Thr) c.9514G>A (p.Ala3172Thr) c.9460G>A (p.Ala3154Thr) c.14737G>A (p.Ala4913Thr) c.14740G>A (p.Ala4914Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125491559G>C | CA358143450 | FAT4 | c.14743G>C (p.Ala4915Pro) c.9514G>C (p.Ala3172Pro) c.9460G>C (p.Ala3154Pro) c.14737G>C (p.Ala4913Pro) c.14740G>C (p.Ala4914Pro) | |
| 4 | g.125491559G= | CA1491680377 | FAT4 | c.14743G= (p.Ala4915=) c.9514G= (p.Ala3172=) c.9460G= (p.Ala3154=) c.14737G= (p.Ala4913=) c.14740G= (p.Ala4914=) | |
| 4 | g.125491559G>T | CA358143451 | FAT4 | c.14743G>T (p.Ala4915Ser) c.9514G>T (p.Ala3172Ser) c.9460G>T (p.Ala3154Ser) c.14737G>T (p.Ala4913Ser) c.14740G>T (p.Ala4914Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125491560C>A | CA358143454 | FAT4 | c.14744C>A (p.Ala4915Asp) c.9515C>A (p.Ala3172Asp) c.9461C>A (p.Ala3154Asp) c.14738C>A (p.Ala4913Asp) c.14741C>A (p.Ala4914Asp) | |
| 4 | g.125491560C>G | CA358143456 | FAT4 | c.14744C>G (p.Ala4915Gly) c.9515C>G (p.Ala3172Gly) c.9461C>G (p.Ala3154Gly) c.14738C>G (p.Ala4913Gly) c.14741C>G (p.Ala4914Gly) | |
| 4 | g.125491560C>T | CA358143458 | FAT4 | c.14744C>T (p.Ala4915Val) c.9515C>T (p.Ala3172Val) c.9461C>T (p.Ala3154Val) c.14738C>T (p.Ala4913Val) c.14741C>T (p.Ala4914Val) | |
| 4 | g.125491561T>A | CA441374524 | FAT4 | c.14745T>A (p.Ala4915=) c.9516T>A (p.Ala3172=) c.9462T>A (p.Ala3154=) c.14739T>A (p.Ala4913=) c.14742T>A (p.Ala4914=) | |
| 4 | g.125491561T>C | CA441374525 | FAT4 | c.14745T>C (p.Ala4915=) c.9516T>C (p.Ala3172=) c.9462T>C (p.Ala3154=) c.14739T>C (p.Ala4913=) c.14742T>C (p.Ala4914=) | |
| 4 | g.125491561T>G | CA441374526 | FAT4 | c.14745T>G (p.Ala4915=) c.9516T>G (p.Ala3172=) c.9462T>G (p.Ala3154=) c.14739T>G (p.Ala4913=) c.14742T>G (p.Ala4914=) | |
| 4 | g.125491562G>A | CA358143463 | FAT4 | c.14746G>A (p.Asp4916Asn) c.9517G>A (p.Asp3173Asn) c.9463G>A (p.Asp3155Asn) c.14740G>A (p.Asp4914Asn) c.14743G>A (p.Asp4915Asn) |