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.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) | |
| 4 | g.125491659T>C | CA358143836 | FAT4 | c.14843T>C (p.Val4948Ala) c.9614T>C (p.Val3205Ala) c.9560T>C (p.Val3187Ala) c.14837T>C (p.Val4946Ala) c.14840T>C (p.Val4947Ala) | gnomAD v4 |
| 4 | g.125491659T>G | CA358143834 | FAT4 | c.14843T>G (p.Val4948Gly) c.9614T>G (p.Val3205Gly) c.9560T>G (p.Val3187Gly) c.14837T>G (p.Val4946Gly) c.14840T>G (p.Val4947Gly) | |
| 4 | g.125491663dup | CA1491680519 | FAT4 | c.14847dup (p.Lys4950Ter) c.9618dup (p.Lys3207Ter) c.9564dup (p.Lys3189Ter) c.14841dup (p.Lys4948Ter) c.14844dup (p.Lys4949Ter) | dbSNP |
| 4 | g.125491660T>A | CA441373863 | FAT4 | c.14844T>A (p.Val4948=) c.9615T>A (p.Val3205=) c.9561T>A (p.Val3187=) c.14838T>A (p.Val4946=) c.14841T>A (p.Val4947=) | |
| 4 | g.125491660T>C | CA441373864 | FAT4 | c.14844T>C (p.Val4948=) c.9615T>C (p.Val3205=) c.9561T>C (p.Val3187=) c.14838T>C (p.Val4946=) c.14841T>C (p.Val4947=) | |
| 4 | g.125491660T>G | CA441373865 | FAT4 | c.14844T>G (p.Val4948=) c.9615T>G (p.Val3205=) c.9561T>G (p.Val3187=) c.14838T>G (p.Val4946=) c.14841T>G (p.Val4947=) | |
| 4 | g.125491661T>A | CA358143837 | FAT4 | c.14845T>A (p.Phe4949Ile) c.9616T>A (p.Phe3206Ile) c.9562T>A (p.Phe3188Ile) c.14839T>A (p.Phe4947Ile) c.14842T>A (p.Phe4948Ile) | |
| 4 | g.125491661T>C | CA358143839 | FAT4 | c.14845T>C (p.Phe4949Leu) c.9616T>C (p.Phe3206Leu) c.9562T>C (p.Phe3188Leu) c.14839T>C (p.Phe4947Leu) c.14842T>C (p.Phe4948Leu) | gnomAD v4 |
| 4 | g.125491661T>G | CA358143838 | FAT4 | c.14845T>G (p.Phe4949Val) c.9616T>G (p.Phe3206Val) c.9562T>G (p.Phe3188Val) c.14839T>G (p.Phe4947Val) c.14842T>G (p.Phe4948Val) | |
| 4 | g.125491662T>A | CA358143840 | FAT4 | c.14846T>A (p.Phe4949Tyr) c.9617T>A (p.Phe3206Tyr) c.9563T>A (p.Phe3188Tyr) c.14840T>A (p.Phe4947Tyr) c.14843T>A (p.Phe4948Tyr) | |
| 4 | g.125491662T>C | CA358143842 | FAT4 | c.14846T>C (p.Phe4949Ser) c.9617T>C (p.Phe3206Ser) c.9563T>C (p.Phe3188Ser) c.14840T>C (p.Phe4947Ser) c.14843T>C (p.Phe4948Ser) | |
| 4 | g.125491662T>G | CA358143841 | FAT4 | c.14846T>G (p.Phe4949Cys) c.9617T>G (p.Phe3206Cys) c.9563T>G (p.Phe3188Cys) c.14840T>G (p.Phe4947Cys) c.14843T>G (p.Phe4948Cys) | |
| 4 | g.125491663T>A | CA358143844 | FAT4 | c.14847T>A (p.Phe4949Leu) c.9618T>A (p.Phe3206Leu) c.9564T>A (p.Phe3188Leu) c.14841T>A (p.Phe4947Leu) c.14844T>A (p.Phe4948Leu) | |
| 4 | g.125491663T>C | CA441373870 | FAT4 | c.14847T>C (p.Phe4949=) c.9618T>C (p.Phe3206=) c.9564T>C (p.Phe3188=) c.14841T>C (p.Phe4947=) c.14844T>C (p.Phe4948=) | |
| 4 | g.125491663T>G | CA358143846 | FAT4 | c.14847T>G (p.Phe4949Leu) c.9618T>G (p.Phe3206Leu) c.9564T>G (p.Phe3188Leu) c.14841T>G (p.Phe4947Leu) c.14844T>G (p.Phe4948Leu) | |
| 4 | g.125491664A>C | CA358143848 | FAT4 | c.14848A>C (p.Lys4950Gln) c.9619A>C (p.Lys3207Gln) c.9565A>C (p.Lys3189Gln) c.14842A>C (p.Lys4948Gln) c.14845A>C (p.Lys4949Gln) | |
| 4 | g.125491664A>G | CA358143851 | FAT4 | c.14848A>G (p.Lys4950Glu) c.9619A>G (p.Lys3207Glu) c.9565A>G (p.Lys3189Glu) c.14842A>G (p.Lys4948Glu) c.14845A>G (p.Lys4949Glu) |