| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.125491636T>A | CA441373826 | FAT4 | c.14820T>A (p.Pro4940=) c.9591T>A (p.Pro3197=) c.9537T>A (p.Pro3179=) c.14814T>A (p.Pro4938=) c.14817T>A (p.Pro4939=) | |
| 4 | g.125491636T>C | CA441373827 | FAT4 | c.14820T>C (p.Pro4940=) c.9591T>C (p.Pro3197=) c.9537T>C (p.Pro3179=) c.14814T>C (p.Pro4938=) c.14817T>C (p.Pro4939=) | |
| 4 | g.125491636T>G | CA441373828 | FAT4 | c.14820T>G (p.Pro4940=) c.9591T>G (p.Pro3197=) c.9537T>G (p.Pro3179=) c.14814T>G (p.Pro4938=) c.14817T>G (p.Pro4939=) | |
| 4 | g.125491637G>A | CA358143748 | FAT4 | c.14821G>A (p.Gly4941Ser) c.9592G>A (p.Gly3198Ser) c.9538G>A (p.Gly3180Ser) c.14815G>A (p.Gly4939Ser) c.14818G>A (p.Gly4940Ser) | gnomAD v4 |
| 4 | g.125491637G>C | CA358143749 | FAT4 | c.14821G>C (p.Gly4941Arg) c.9592G>C (p.Gly3198Arg) c.9538G>C (p.Gly3180Arg) c.14815G>C (p.Gly4939Arg) c.14818G>C (p.Gly4940Arg) | |
| 4 | g.125491637G>T | CA358143750 | FAT4 | c.14821G>T (p.Gly4941Cys) c.9592G>T (p.Gly3198Cys) c.9538G>T (p.Gly3180Cys) c.14815G>T (p.Gly4939Cys) c.14818G>T (p.Gly4940Cys) | |
| 4 | g.125491638G>A | CA358143751 | FAT4 | c.14822G>A (p.Gly4941Asp) c.9593G>A (p.Gly3198Asp) c.9539G>A (p.Gly3180Asp) c.14816G>A (p.Gly4939Asp) c.14819G>A (p.Gly4940Asp) | gnomAD v4 |
| 4 | g.125491638G>C | CA358143752 | FAT4 | c.14822G>C (p.Gly4941Ala) c.9593G>C (p.Gly3198Ala) c.9539G>C (p.Gly3180Ala) c.14816G>C (p.Gly4939Ala) c.14819G>C (p.Gly4940Ala) | |
| 4 | g.125491638G>T | CA358143753 | FAT4 | c.14822G>T (p.Gly4941Val) c.9593G>T (p.Gly3198Val) c.9539G>T (p.Gly3180Val) c.14816G>T (p.Gly4939Val) c.14819G>T (p.Gly4940Val) | |
| 4 | g.125491639C>A | CA441373831 | FAT4 | c.14823C>A (p.Gly4941=) c.9594C>A (p.Gly3198=) c.9540C>A (p.Gly3180=) c.14817C>A (p.Gly4939=) c.14820C>A (p.Gly4940=) | |
| 4 | g.125491639C>G | CA441373832 | FAT4 | c.14823C>G (p.Gly4941=) c.9594C>G (p.Gly3198=) c.9540C>G (p.Gly3180=) c.14817C>G (p.Gly4939=) c.14820C>G (p.Gly4940=) | |
| 4 | g.125491639C>T | CA441373834 | FAT4 | c.14823C>T (p.Gly4941=) c.9594C>T (p.Gly3198=) c.9540C>T (p.Gly3180=) c.14817C>T (p.Gly4939=) c.14820C>T (p.Gly4940=) | |
| 4 | g.125491640T>A | CA358143754 | FAT4 | c.14824T>A (p.Phe4942Ile) c.9595T>A (p.Phe3199Ile) c.9541T>A (p.Phe3181Ile) c.14818T>A (p.Phe4940Ile) c.14821T>A (p.Phe4941Ile) | |
| 4 | g.125491640T>C | CA358143755 | FAT4 | c.14824T>C (p.Phe4942Leu) c.9595T>C (p.Phe3199Leu) c.9541T>C (p.Phe3181Leu) c.14818T>C (p.Phe4940Leu) c.14821T>C (p.Phe4941Leu) | |
| 4 | g.125491640T>G | CA358143757 | FAT4 | c.14824T>G (p.Phe4942Val) c.9595T>G (p.Phe3199Val) c.9541T>G (p.Phe3181Val) c.14818T>G (p.Phe4940Val) c.14821T>G (p.Phe4941Val) | |
| 4 | g.125491641T>A | CA358143758 | FAT4 | c.14825T>A (p.Phe4942Tyr) c.9596T>A (p.Phe3199Tyr) c.9542T>A (p.Phe3181Tyr) c.14819T>A (p.Phe4940Tyr) c.14822T>A (p.Phe4941Tyr) | |
| 4 | g.125491641T>C | CA358143759 | FAT4 | c.14825T>C (p.Phe4942Ser) c.9596T>C (p.Phe3199Ser) c.9542T>C (p.Phe3181Ser) c.14819T>C (p.Phe4940Ser) c.14822T>C (p.Phe4941Ser) | |
| 4 | g.125491641T>G | CA358143760 | FAT4 | c.14825T>G (p.Phe4942Cys) c.9596T>G (p.Phe3199Cys) c.9542T>G (p.Phe3181Cys) c.14819T>G (p.Phe4940Cys) c.14822T>G (p.Phe4941Cys) | |
| 4 | g.125491642T>A | CA358143761 | FAT4 | c.14826T>A (p.Phe4942Leu) c.9597T>A (p.Phe3199Leu) c.9543T>A (p.Phe3181Leu) c.14820T>A (p.Phe4940Leu) c.14823T>A (p.Phe4941Leu) | |
| 4 | g.125491642T>C | CA441373839 | FAT4 | c.14826T>C (p.Phe4942=) c.9597T>C (p.Phe3199=) c.9543T>C (p.Phe3181=) c.14820T>C (p.Phe4940=) c.14823T>C (p.Phe4941=) | |
| 4 | g.125491642T>G | CA358143762 | FAT4 | c.14826T>G (p.Phe4942Leu) c.9597T>G (p.Phe3199Leu) c.9543T>G (p.Phe3181Leu) c.14820T>G (p.Phe4940Leu) c.14823T>G (p.Phe4941Leu) | |
| 4 | g.125491643G>A | CA358143763 | FAT4 | c.14827G>A (p.Gly4943Ser) c.9598G>A (p.Gly3200Ser) c.9544G>A (p.Gly3182Ser) c.14821G>A (p.Gly4941Ser) c.14824G>A (p.Gly4942Ser) | |
| 4 | g.125491643G>C | CA358143764 | FAT4 | c.14827G>C (p.Gly4943Arg) c.9598G>C (p.Gly3200Arg) c.9544G>C (p.Gly3182Arg) c.14821G>C (p.Gly4941Arg) c.14824G>C (p.Gly4942Arg) | |
| 4 | g.125491643G>T | CA358143765 | FAT4 | c.14827G>T (p.Gly4943Cys) c.9598G>T (p.Gly3200Cys) c.9544G>T (p.Gly3182Cys) c.14821G>T (p.Gly4941Cys) c.14824G>T (p.Gly4942Cys) | |
| 4 | g.125491644G>A | CA358143766 | FAT4 | c.14828G>A (p.Gly4943Asp) c.9599G>A (p.Gly3200Asp) c.9545G>A (p.Gly3182Asp) c.14822G>A (p.Gly4941Asp) c.14825G>A (p.Gly4942Asp) | COSMIC |
| 4 | g.125491644G>C | CA358143767 | FAT4 | c.14828G>C (p.Gly4943Ala) c.9599G>C (p.Gly3200Ala) c.9545G>C (p.Gly3182Ala) c.14822G>C (p.Gly4941Ala) c.14825G>C (p.Gly4942Ala) | |
| 4 | g.125491644G>T | CA358143768 | FAT4 | c.14828G>T (p.Gly4943Val) c.9599G>T (p.Gly3200Val) c.9545G>T (p.Gly3182Val) c.14822G>T (p.Gly4941Val) c.14825G>T (p.Gly4942Val) | |
| 4 | g.125491645C>A | CA441373843 | FAT4 | c.14829C>A (p.Gly4943=) c.9600C>A (p.Gly3200=) c.9546C>A (p.Gly3182=) c.14823C>A (p.Gly4941=) c.14826C>A (p.Gly4942=) | |
| 4 | g.125491645C= | CA1491680477 | FAT4 | c.14829C= (p.Gly4943=) c.9600C= (p.Gly3200=) c.9546C= (p.Gly3182=) c.14823C= (p.Gly4941=) c.14826C= (p.Gly4942=) | |
| 4 | g.125491645C>G | CA441373844 | FAT4 | c.14829C>G (p.Gly4943=) c.9600C>G (p.Gly3200=) c.9546C>G (p.Gly3182=) c.14823C>G (p.Gly4941=) c.14826C>G (p.Gly4942=) | |
| 4 | g.125491645C>T | CA441373842 | FAT4 | c.14829C>T (p.Gly4943=) c.9600C>T (p.Gly3200=) c.9546C>T (p.Gly3182=) c.14823C>T (p.Gly4941=) c.14826C>T (p.Gly4942=) | dbSNP gnomAD v4 |
| 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 |