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.125491646C>A | CA358143772 | FAT4 | c.14830C>A (p.His4944Asn) c.9601C>A (p.His3201Asn) c.9547C>A (p.His3183Asn) c.14824C>A (p.His4942Asn) c.14827C>A (p.His4943Asn) | |
| 4 | g.125491646C>G | CA358143769 | FAT4 | c.14830C>G (p.His4944Asp) c.9601C>G (p.His3201Asp) c.9547C>G (p.His3183Asp) c.14824C>G (p.His4942Asp) c.14827C>G (p.His4943Asp) | |
| 4 | g.125491646C>T | CA358143770 | FAT4 | c.14830C>T (p.His4944Tyr) c.9601C>T (p.His3201Tyr) c.9547C>T (p.His3183Tyr) c.14824C>T (p.His4942Tyr) c.14827C>T (p.His4943Tyr) | |
| 4 | g.125491647A= | CA1491680481 | FAT4 | c.14831A= (p.His4944=) c.9602A= (p.His3201=) c.9548A= (p.His3183=) c.14825A= (p.His4942=) c.14828A= (p.His4943=) | |
| 4 | g.125491647A>C | CA358143774 | FAT4 | c.14831A>C (p.His4944Pro) c.9602A>C (p.His3201Pro) c.9548A>C (p.His3183Pro) c.14825A>C (p.His4942Pro) c.14828A>C (p.His4943Pro) | |
| 4 | g.125491647A>G | CA3074629 | FAT4 | c.14831A>G (p.His4944Arg) c.9602A>G (p.His3201Arg) c.9548A>G (p.His3183Arg) c.14825A>G (p.His4942Arg) c.14828A>G (p.His4943Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125491647A>T | CA358143777 | FAT4 | c.14831A>T (p.His4944Leu) c.9602A>T (p.His3201Leu) c.9548A>T (p.His3183Leu) c.14825A>T (p.His4942Leu) c.14828A>T (p.His4943Leu) | |
| 4 | g.125491648T>A | CA358143778 | FAT4 | c.14832T>A (p.His4944Gln) c.9603T>A (p.His3201Gln) c.9549T>A (p.His3183Gln) c.14826T>A (p.His4942Gln) c.14829T>A (p.His4943Gln) | |
| 4 | g.125491648T>C | CA441373847 | FAT4 | c.14832T>C (p.His4944=) c.9603T>C (p.His3201=) c.9549T>C (p.His3183=) c.14826T>C (p.His4942=) c.14829T>C (p.His4943=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125491648T>G | CA358143779 | FAT4 | c.14832T>G (p.His4944Gln) c.9603T>G (p.His3201Gln) c.9549T>G (p.His3183Gln) c.14826T>G (p.His4942Gln) c.14829T>G (p.His4943Gln) | |
| 4 | g.125491648T= | CA1491680483 | FAT4 | c.14832T= (p.His4944=) c.9603T= (p.His3201=) c.9549T= (p.His3183=) c.14826T= (p.His4942=) c.14829T= (p.His4943=) | |
| 4 | g.125491649T>A | CA358143782 | FAT4 | c.14833T>A (p.Tyr4945Asn) c.9604T>A (p.Tyr3202Asn) c.9550T>A (p.Tyr3184Asn) c.14827T>A (p.Tyr4943Asn) c.14830T>A (p.Tyr4944Asn) | |
| 4 | g.125491649T>C | CA358143785 | FAT4 | c.14833T>C (p.Tyr4945His) c.9604T>C (p.Tyr3202His) c.9550T>C (p.Tyr3184His) c.14827T>C (p.Tyr4943His) c.14830T>C (p.Tyr4944His) | gnomAD v4 |
| 4 | g.125491649T>G | CA358143783 | FAT4 | c.14833T>G (p.Tyr4945Asp) c.9604T>G (p.Tyr3202Asp) c.9550T>G (p.Tyr3184Asp) c.14827T>G (p.Tyr4943Asp) c.14830T>G (p.Tyr4944Asp) | gnomAD v4 |
| 4 | g.125491650A>C | CA358143788 | FAT4 | c.14834A>C (p.Tyr4945Ser) c.9605A>C (p.Tyr3202Ser) c.9551A>C (p.Tyr3184Ser) c.14828A>C (p.Tyr4943Ser) c.14831A>C (p.Tyr4944Ser) | |
| 4 | g.125491650A>G | CA358143789 | FAT4 | c.14834A>G (p.Tyr4945Cys) c.9605A>G (p.Tyr3202Cys) c.9551A>G (p.Tyr3184Cys) c.14828A>G (p.Tyr4943Cys) c.14831A>G (p.Tyr4944Cys) | |
| 4 | g.125491650A>T | CA358143790 | FAT4 | c.14834A>T (p.Tyr4945Phe) c.9605A>T (p.Tyr3202Phe) c.9551A>T (p.Tyr3184Phe) c.14828A>T (p.Tyr4943Phe) c.14831A>T (p.Tyr4944Phe) | |
| 4 | g.125491651T>A | CA358143793 | FAT4 | c.14835T>A (p.Tyr4945Ter) c.9606T>A (p.Tyr3202Ter) c.9552T>A (p.Tyr3184Ter) c.14829T>A (p.Tyr4943Ter) c.14832T>A (p.Tyr4944Ter) | |
| 4 | g.125491651T>C | CA3074630 | FAT4 | c.14835T>C (p.Tyr4945=) c.9606T>C (p.Tyr3202=) c.9552T>C (p.Tyr3184=) c.14829T>C (p.Tyr4943=) c.14832T>C (p.Tyr4944=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125491651T>G | CA358143796 | FAT4 | c.14835T>G (p.Tyr4945Ter) c.9606T>G (p.Tyr3202Ter) c.9552T>G (p.Tyr3184Ter) c.14829T>G (p.Tyr4943Ter) c.14832T>G (p.Tyr4944Ter) | |
| 4 | g.125491651T= | CA1491680486 | FAT4 | c.14835T= (p.Tyr4945=) c.9606T= (p.Tyr3202=) c.9552T= (p.Tyr3184=) c.14829T= (p.Tyr4943=) c.14832T= (p.Tyr4944=) | |
| 4 | g.125491652G>A | CA358143798 | FAT4 | c.14836G>A (p.Val4946Ile) c.9607G>A (p.Val3203Ile) c.9553G>A (p.Val3185Ile) c.14830G>A (p.Val4944Ile) c.14833G>A (p.Val4945Ile) | dbSNP |
| 4 | g.125491652G>C | CA358143800 | FAT4 | c.14836G>C (p.Val4946Leu) c.9607G>C (p.Val3203Leu) c.9553G>C (p.Val3185Leu) c.14830G>C (p.Val4944Leu) c.14833G>C (p.Val4945Leu) | |
| 4 | g.125491652G= | CA1491680489 | FAT4 | c.14836G= (p.Val4946=) c.9607G= (p.Val3203=) c.9553G= (p.Val3185=) c.14830G= (p.Val4944=) c.14833G= (p.Val4945=) | |
| 4 | g.125491652G>T | CA104876995 | FAT4 | c.14836G>T (p.Val4946Leu) c.9607G>T (p.Val3203Leu) c.9553G>T (p.Val3185Leu) c.14830G>T (p.Val4944Leu) c.14833G>T (p.Val4945Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125491653T>A | CA358143804 | FAT4 | c.14837T>A (p.Val4946Glu) c.9608T>A (p.Val3203Glu) c.9554T>A (p.Val3185Glu) c.14831T>A (p.Val4944Glu) c.14834T>A (p.Val4945Glu) | |
| 4 | g.125491653T>C | CA358143806 | FAT4 | c.14837T>C (p.Val4946Ala) c.9608T>C (p.Val3203Ala) c.9554T>C (p.Val3185Ala) c.14831T>C (p.Val4944Ala) c.14834T>C (p.Val4945Ala) | ClinVar dbSNP gnomAD v4 |
| 4 | g.125491653T>G | CA358143807 | FAT4 | c.14837T>G (p.Val4946Gly) c.9608T>G (p.Val3203Gly) c.9554T>G (p.Val3185Gly) c.14831T>G (p.Val4944Gly) c.14834T>G (p.Val4945Gly) | |
| 4 | g.125491653T= | CA1491680493 | FAT4 | c.14837T= (p.Val4946=) c.9608T= (p.Val3203=) c.9554T= (p.Val3185=) c.14831T= (p.Val4944=) c.14834T= (p.Val4945=) | |
| 4 | g.125491654A>C | CA441373853 | FAT4 | c.14838A>C (p.Val4946=) c.9609A>C (p.Val3203=) c.9555A>C (p.Val3185=) c.14832A>C (p.Val4944=) c.14835A>C (p.Val4945=) | |
| 4 | g.125491654A>G | CA441373854 | FAT4 | c.14838A>G (p.Val4946=) c.9609A>G (p.Val3203=) c.9555A>G (p.Val3185=) c.14832A>G (p.Val4944=) c.14835A>G (p.Val4945=) | |
| 4 | g.125491654A>T | CA441373855 | FAT4 | c.14838A>T (p.Val4946=) c.9609A>T (p.Val3203=) c.9555A>T (p.Val3185=) c.14832A>T (p.Val4944=) c.14835A>T (p.Val4945=) | gnomAD v4 |
| 4 | g.125491655G>A | CA3074631 | FAT4 | c.14839G>A (p.Asp4947Asn) c.9610G>A (p.Asp3204Asn) c.9556G>A (p.Asp3186Asn) c.14833G>A (p.Asp4945Asn) c.14836G>A (p.Asp4946Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125491655G>C | CA358143813 | FAT4 | c.14839G>C (p.Asp4947His) c.9610G>C (p.Asp3204His) c.9556G>C (p.Asp3186His) c.14833G>C (p.Asp4945His) c.14836G>C (p.Asp4946His) | |
| 4 | g.125491655G= | CA1491680498 | FAT4 | c.14839G= (p.Asp4947=) c.9610G= (p.Asp3204=) c.9556G= (p.Asp3186=) c.14833G= (p.Asp4945=) c.14836G= (p.Asp4946=) | |
| 4 | g.125491655G>T | CA358143810 | FAT4 | c.14839G>T (p.Asp4947Tyr) c.9610G>T (p.Asp3204Tyr) c.9556G>T (p.Asp3186Tyr) c.14833G>T (p.Asp4945Tyr) c.14836G>T (p.Asp4946Tyr) | |
| 4 | g.125491656A>C | CA358143815 | FAT4 | c.14840A>C (p.Asp4947Ala) c.9611A>C (p.Asp3204Ala) c.9557A>C (p.Asp3186Ala) c.14834A>C (p.Asp4945Ala) c.14837A>C (p.Asp4946Ala) | |
| 4 | g.125491656A>G | CA358143819 | FAT4 | c.14840A>G (p.Asp4947Gly) c.9611A>G (p.Asp3204Gly) c.9557A>G (p.Asp3186Gly) c.14834A>G (p.Asp4945Gly) c.14837A>G (p.Asp4946Gly) | |
| 4 | g.125491656A>T | CA358143817 | FAT4 | c.14840A>T (p.Asp4947Val) c.9611A>T (p.Asp3204Val) c.9557A>T (p.Asp3186Val) c.14834A>T (p.Asp4945Val) c.14837A>T (p.Asp4946Val) | |
| 4 | g.125491656_125491659delinsATGT | CA1491680500 | FAT4 | c.14840_14843delinsATGT (p.Asp4947=) c.9611_9614delinsATGT (p.Asp3204=) c.9557_9560delinsATGT (p.Asp3186=) c.14834_14837delinsATGT (p.Asp4945=) c.14837_14840delinsATGT (p.Asp4946=) | |
| 4 | g.125491657T>A | CA3074633 | FAT4 | c.14841T>A (p.Asp4947Glu) c.9612T>A (p.Asp3204Glu) c.9558T>A (p.Asp3186Glu) c.14835T>A (p.Asp4945Glu) c.14838T>A (p.Asp4946Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125491657T>C | CA3074632 | FAT4 | c.14841T>C (p.Asp4947=) c.9612T>C (p.Asp3204=) c.9558T>C (p.Asp3186=) c.14835T>C (p.Asp4945=) c.14838T>C (p.Asp4946=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125491657T>G | CA358143821 | FAT4 | c.14841T>G (p.Asp4947Glu) c.9612T>G (p.Asp3204Glu) c.9558T>G (p.Asp3186Glu) c.14835T>G (p.Asp4945Glu) c.14838T>G (p.Asp4946Glu) | |
| 4 | g.125491657T= | CA1491680506 | FAT4 | c.14841T= (p.Asp4947=) c.9612T= (p.Asp3204=) c.9558T= (p.Asp3186=) c.14835T= (p.Asp4945=) c.14838T= (p.Asp4946=) | |
| 4 | g.125491658_125491660del | CA786679093 | FAT4 | c.14842_14844del (p.Val4948del) c.9613_9615del (p.Val3205del) c.9559_9561del (p.Val3187del) c.14836_14838del (p.Val4946del) c.14839_14841del (p.Val4947del) | dbSNP |
| 4 | g.125491658G>A | CA3074634 | FAT4 | c.14842G>A (p.Val4948Ile) c.9613G>A (p.Val3205Ile) c.9559G>A (p.Val3187Ile) c.14836G>A (p.Val4946Ile) c.14839G>A (p.Val4947Ile) | ClinVar dbSNP ExAC gnomAD v2 |
| 4 | g.125491658G>C | CA358143828 | FAT4 | c.14842G>C (p.Val4948Leu) c.9613G>C (p.Val3205Leu) c.9559G>C (p.Val3187Leu) c.14836G>C (p.Val4946Leu) c.14839G>C (p.Val4947Leu) | |
| 4 | g.125491658G= | CA1491680514 | FAT4 | c.14842G= (p.Val4948=) c.9613G= (p.Val3205=) c.9559G= (p.Val3187=) c.14836G= (p.Val4946=) c.14839G= (p.Val4947=) | |
| 4 | g.125491658G>T | CA358143826 | FAT4 | c.14842G>T (p.Val4948Phe) c.9613G>T (p.Val3205Phe) c.9559G>T (p.Val3187Phe) c.14836G>T (p.Val4946Phe) c.14839G>T (p.Val4947Phe) | |
| 4 | g.125491659T>A | CA358143831 | FAT4 | c.14843T>A (p.Val4948Asp) c.9614T>A (p.Val3205Asp) c.9560T>A (p.Val3187Asp) c.14837T>A (p.Val4946Asp) c.14840T>A (p.Val4947Asp) |