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 |
|---|---|---|---|---|---|
| 14 | g.67782742A= | CA2144027598 | ZFYVE26 | c.4372+38T= (n.4372+38T=) n.4509+38T= c.*2350+357T= (n.*2350+357T=) c.2863+38T= (n.2863+38T=) c.2047+38T= (n.2047+38T=) c.1954+38T= (n.1954+38T=) | |
| 14 | g.67782742A>G | CA7239783 | ZFYVE26 | c.4372+38T>C (n.4372+38T>C) n.4509+38T>C c.*2350+357T>C (n.*2350+357T>C) c.2863+38T>C (n.2863+38T>C) c.2047+38T>C (n.2047+38T>C) c.1954+38T>C (n.1954+38T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782744C>A | CA2144027600 | ZFYVE26 | c.4372+36G>T (n.4372+36G>T) n.4509+36G>T c.*2350+355G>T (n.*2350+355G>T) c.2863+36G>T (n.2863+36G>T) c.2047+36G>T (n.2047+36G>T) c.1954+36G>T (n.1954+36G>T) | dbSNP |
| 14 | g.67782744C= | CA2144027599 | ZFYVE26 | c.4372+36G= (n.4372+36G=) n.4509+36G= c.*2350+355G= (n.*2350+355G=) c.2863+36G= (n.2863+36G=) c.2047+36G= (n.2047+36G=) c.1954+36G= (n.1954+36G=) | |
| 14 | g.67782744C>G | CA2144027601 | ZFYVE26 | c.4372+36G>C (n.4372+36G>C) n.4509+36G>C c.*2350+355G>C (n.*2350+355G>C) c.2863+36G>C (n.2863+36G>C) c.2047+36G>C (n.2047+36G>C) c.1954+36G>C (n.1954+36G>C) | dbSNP |
| 14 | g.67782745A= | CA2144027602 | ZFYVE26 | c.4372+35T= (n.4372+35T=) n.4509+35T= c.*2350+354T= (n.*2350+354T=) c.2863+35T= (n.2863+35T=) c.2047+35T= (n.2047+35T=) c.1954+35T= (n.1954+35T=) | |
| 14 | g.67782745A>T | CA614778897 | ZFYVE26 | c.4372+35T>A (n.4372+35T>A) n.4509+35T>A c.*2350+354T>A (n.*2350+354T>A) c.2863+35T>A (n.2863+35T>A) c.2047+35T>A (n.2047+35T>A) c.1954+35T>A (n.1954+35T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67782746C>T | CA2625374416 | ZFYVE26 | c.4372+34G>A (n.4372+34G>A) n.4509+34G>A c.*2350+353G>A (n.*2350+353G>A) c.2863+34G>A (n.2863+34G>A) c.2047+34G>A (n.2047+34G>A) c.1954+34G>A (n.1954+34G>A) | gnomAD v4 |
| 14 | g.67782748A>G | CA2625374417 | ZFYVE26 | c.4372+32T>C (n.4372+32T>C) n.4509+32T>C c.*2350+351T>C (n.*2350+351T>C) c.2863+32T>C (n.2863+32T>C) c.2047+32T>C (n.2047+32T>C) c.1954+32T>C (n.1954+32T>C) | gnomAD v4 |
| 14 | g.67782749G>A | CA7239784 | ZFYVE26 | c.4372+31C>T (n.4372+31C>T) n.4509+31C>T c.*2350+350C>T (n.*2350+350C>T) c.2863+31C>T (n.2863+31C>T) c.2047+31C>T (n.2047+31C>T) c.1954+31C>T (n.1954+31C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782749G= | CA2144027603 | ZFYVE26 | c.4372+31C= (n.4372+31C=) n.4509+31C= c.*2350+350C= (n.*2350+350C=) c.2863+31C= (n.2863+31C=) c.2047+31C= (n.2047+31C=) c.1954+31C= (n.1954+31C=) | |
| 14 | g.67782750T>C | CA707966780 | ZFYVE26 | c.4372+30A>G (n.4372+30A>G) n.4509+30A>G c.*2350+349A>G (n.*2350+349A>G) c.2863+30A>G (n.2863+30A>G) c.2047+30A>G (n.2047+30A>G) c.1954+30A>G (n.1954+30A>G) | dbSNP |
| 14 | g.67782750T= | CA2144027604 | ZFYVE26 | c.4372+30A= (n.4372+30A=) n.4509+30A= c.*2350+349A= (n.*2350+349A=) c.2863+30A= (n.2863+30A=) c.2047+30A= (n.2047+30A=) c.1954+30A= (n.1954+30A=) | |
| 14 | g.67782751G>T | CA2625374418 | ZFYVE26 | c.4372+29C>A (n.4372+29C>A) n.4509+29C>A c.*2350+348C>A (n.*2350+348C>A) c.2863+29C>A (n.2863+29C>A) c.2047+29C>A (n.2047+29C>A) c.1954+29C>A (n.1954+29C>A) | gnomAD v4 |
| 14 | g.67782756del | CA2625374419 | ZFYVE26 | c.4372+28del (n.4372+28del) n.4509+28del c.*2350+347del (n.*2350+347del) c.2863+28del (n.2863+28del) c.2047+28del (n.2047+28del) c.1954+28del (n.1954+28del) | gnomAD v4 |
| 14 | g.67782753A>G | CA2575559835 | ZFYVE26 | c.4372+27T>C (n.4372+27T>C) n.4509+27T>C c.*2350+346T>C (n.*2350+346T>C) c.2863+27T>C (n.2863+27T>C) c.2047+27T>C (n.2047+27T>C) c.1954+27T>C (n.1954+27T>C) | |
| 14 | g.67782754A= | CA2144027605 | ZFYVE26 | c.4372+26T= (n.4372+26T=) n.4509+26T= c.*2350+345T= (n.*2350+345T=) c.2863+26T= (n.2863+26T=) c.2047+26T= (n.2047+26T=) c.1954+26T= (n.1954+26T=) | |
| 14 | g.67782754A>G | CA262848312 | ZFYVE26 | c.4372+26T>C (n.4372+26T>C) n.4509+26T>C c.*2350+345T>C (n.*2350+345T>C) c.2863+26T>C (n.2863+26T>C) c.2047+26T>C (n.2047+26T>C) c.1954+26T>C (n.1954+26T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782756A>G | CA2625374420 | ZFYVE26 | c.4372+24T>C (n.4372+24T>C) n.4509+24T>C c.*2350+343T>C (n.*2350+343T>C) c.2863+24T>C (n.2863+24T>C) c.2047+24T>C (n.2047+24T>C) c.1954+24T>C (n.1954+24T>C) | gnomAD v4 |
| 14 | g.67782757G>A | CA964243768 | ZFYVE26 | c.4372+23C>T (n.4372+23C>T) n.4509+23C>T c.*2350+342C>T (n.*2350+342C>T) c.2863+23C>T (n.2863+23C>T) c.2047+23C>T (n.2047+23C>T) c.1954+23C>T (n.1954+23C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.67782757G>C | CA2625374421 | ZFYVE26 | c.4372+23C>G (n.4372+23C>G) n.4509+23C>G c.*2350+342C>G (n.*2350+342C>G) c.2863+23C>G (n.2863+23C>G) c.2047+23C>G (n.2047+23C>G) c.1954+23C>G (n.1954+23C>G) | gnomAD v4 |
| 14 | g.67782757G= | CA2144027606 | ZFYVE26 | c.4372+23C= (n.4372+23C=) n.4509+23C= c.*2350+342C= (n.*2350+342C=) c.2863+23C= (n.2863+23C=) c.2047+23C= (n.2047+23C=) c.1954+23C= (n.1954+23C=) | |
| 14 | g.67782757G>T | CA262848325 | ZFYVE26 | c.4372+23C>A (n.4372+23C>A) n.4509+23C>A c.*2350+342C>A (n.*2350+342C>A) c.2863+23C>A (n.2863+23C>A) c.2047+23C>A (n.2047+23C>A) c.1954+23C>A (n.1954+23C>A) | dbSNP |
| 14 | g.67782758G>A | CA2625374422 | ZFYVE26 | c.4372+22C>T (n.4372+22C>T) n.4509+22C>T c.*2350+341C>T (n.*2350+341C>T) c.2863+22C>T (n.2863+22C>T) c.2047+22C>T (n.2047+22C>T) c.1954+22C>T (n.1954+22C>T) | gnomAD v4 |
| 14 | g.67782759G>A | CA2625374423 | ZFYVE26 | c.4372+21C>T (n.4372+21C>T) n.4509+21C>T c.*2350+340C>T (n.*2350+340C>T) c.2863+21C>T (n.2863+21C>T) c.2047+21C>T (n.2047+21C>T) c.1954+21C>T (n.1954+21C>T) | gnomAD v4 |
| 14 | g.67782762G>A | CA2625374424 | ZFYVE26 | c.4372+18C>T (n.4372+18C>T) n.4509+18C>T c.*2350+337C>T (n.*2350+337C>T) c.2863+18C>T (n.2863+18C>T) c.2047+18C>T (n.2047+18C>T) c.1954+18C>T (n.1954+18C>T) | gnomAD v4 |
| 14 | g.67782763C>A | CA7239785 | ZFYVE26 | c.4372+17G>T (n.4372+17G>T) n.4509+17G>T c.*2350+336G>T (n.*2350+336G>T) c.2863+17G>T (n.2863+17G>T) c.2047+17G>T (n.2047+17G>T) c.1954+17G>T (n.1954+17G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782763C= | CA2144027607 | ZFYVE26 | c.4372+17G= (n.4372+17G=) n.4509+17G= c.*2350+336G= (n.*2350+336G=) c.2863+17G= (n.2863+17G=) c.2047+17G= (n.2047+17G=) c.1954+17G= (n.1954+17G=) | |
| 14 | g.67782763C>G | CA2697553996 | ZFYVE26 | c.4372+17G>C (n.4372+17G>C) n.4509+17G>C c.*2350+336G>C (n.*2350+336G>C) c.2863+17G>C (n.2863+17G>C) c.2047+17G>C (n.2047+17G>C) c.1954+17G>C (n.1954+17G>C) | ClinVar |
| 14 | g.67782764A>G | CA2741386322 | ZFYVE26 | c.4372+16T>C (n.4372+16T>C) n.4509+16T>C c.*2350+335T>C (n.*2350+335T>C) c.2863+16T>C (n.2863+16T>C) c.2047+16T>C (n.2047+16T>C) c.1954+16T>C (n.1954+16T>C) | |
| 14 | g.67782764A>T | CA2697553997 | ZFYVE26 | c.4372+16T>A (n.4372+16T>A) n.4509+16T>A c.*2350+335T>A (n.*2350+335T>A) c.2863+16T>A (n.2863+16T>A) c.2047+16T>A (n.2047+16T>A) c.1954+16T>A (n.1954+16T>A) | ClinVar |
| 14 | g.67782765T>C | CA262848365 | ZFYVE26 | c.4372+15A>G (n.4372+15A>G) n.4509+15A>G c.*2350+334A>G (n.*2350+334A>G) c.2863+15A>G (n.2863+15A>G) c.2047+15A>G (n.2047+15A>G) c.1954+15A>G (n.1954+15A>G) | dbSNP |
| 14 | g.67782765T= | CA2144027608 | ZFYVE26 | c.4372+15A= (n.4372+15A=) n.4509+15A= c.*2350+334A= (n.*2350+334A=) c.2863+15A= (n.2863+15A=) c.2047+15A= (n.2047+15A=) c.1954+15A= (n.1954+15A=) | |
| 14 | g.67782766A= | CA2144027609 | ZFYVE26 | c.4372+14T= (n.4372+14T=) n.4509+14T= c.*2350+333T= (n.*2350+333T=) c.2863+14T= (n.2863+14T=) c.2047+14T= (n.2047+14T=) c.1954+14T= (n.1954+14T=) | |
| 14 | g.67782766A>G | CA707966785 | ZFYVE26 | c.4372+14T>C (n.4372+14T>C) n.4509+14T>C c.*2350+333T>C (n.*2350+333T>C) c.2863+14T>C (n.2863+14T>C) c.2047+14T>C (n.2047+14T>C) c.1954+14T>C (n.1954+14T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.67782767G>C | CA2575559836 | ZFYVE26 | c.4372+13C>G (n.4372+13C>G) n.4509+13C>G c.*2350+332C>G (n.*2350+332C>G) c.2863+13C>G (n.2863+13C>G) c.2047+13C>G (n.2047+13C>G) c.1954+13C>G (n.1954+13C>G) | gnomAD v4 |
| 14 | g.67782767G= | CA2144027610 | ZFYVE26 | c.4372+13C= (n.4372+13C=) n.4509+13C= c.*2350+332C= (n.*2350+332C=) c.2863+13C= (n.2863+13C=) c.2047+13C= (n.2047+13C=) c.1954+13C= (n.1954+13C=) | |
| 14 | g.67782767G>T | CA486774756 | ZFYVE26 | c.4372+13C>A (n.4372+13C>A) n.4509+13C>A c.*2350+332C>A (n.*2350+332C>A) c.2863+13C>A (n.2863+13C>A) c.2047+13C>A (n.2047+13C>A) c.1954+13C>A (n.1954+13C>A) | dbSNP gnomAD v2 |
| 14 | g.67782768C= | CA2144027611 | ZFYVE26 | c.4372+12G= (n.4372+12G=) n.4509+12G= c.*2350+331G= (n.*2350+331G=) c.2863+12G= (n.2863+12G=) c.2047+12G= (n.2047+12G=) c.1954+12G= (n.1954+12G=) | |
| 14 | g.67782768C>T | CA707966791 | ZFYVE26 | c.4372+12G>A (n.4372+12G>A) n.4509+12G>A c.*2350+331G>A (n.*2350+331G>A) c.2863+12G>A (n.2863+12G>A) c.2047+12G>A (n.2047+12G>A) c.1954+12G>A (n.1954+12G>A) | dbSNP |
| 14 | g.67782770T>C | CA2625374425 | ZFYVE26 | c.4372+10A>G (n.4372+10A>G) n.4509+10A>G c.*2350+329A>G (n.*2350+329A>G) c.2863+10A>G (n.2863+10A>G) c.2047+10A>G (n.2047+10A>G) c.1954+10A>G (n.1954+10A>G) | gnomAD v4 |
| 14 | g.67782771T>C | CA2512904888 | ZFYVE26 | c.4372+9A>G (n.4372+9A>G) n.4509+9A>G c.*2350+328A>G (n.*2350+328A>G) c.2863+9A>G (n.2863+9A>G) c.2047+9A>G (n.2047+9A>G) c.1954+9A>G (n.1954+9A>G) | |
| 14 | g.67782774G= | CA2144027612 | ZFYVE26 | c.4372+6C= (n.4372+6C=) n.4509+6C= c.*2350+325C= (n.*2350+325C=) c.2863+6C= (n.2863+6C=) c.2047+6C= (n.2047+6C=) c.1954+6C= (n.1954+6C=) | |
| 14 | g.67782774G>T | CA2144027613 | ZFYVE26 | c.4372+6C>A (n.4372+6C>A) n.4509+6C>A c.*2350+325C>A (n.*2350+325C>A) c.2863+6C>A (n.2863+6C>A) c.2047+6C>A (n.2047+6C>A) c.1954+6C>A (n.1954+6C>A) | dbSNP |
| 14 | g.67782775C= | CA2144027614 | ZFYVE26 | c.4372+5G= (n.4372+5G=) n.4509+5G= c.*2350+324G= (n.*2350+324G=) c.2863+5G= (n.2863+5G=) c.2047+5G= (n.2047+5G=) c.1954+5G= (n.1954+5G=) | |
| 14 | g.67782775C>T | CA614778898 | ZFYVE26 | c.4372+5G>A (n.4372+5G>A) n.4509+5G>A c.*2350+324G>A (n.*2350+324G>A) c.2863+5G>A (n.2863+5G>A) c.2047+5G>A (n.2047+5G>A) c.1954+5G>A (n.1954+5G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782776_67782779del | CA912979788 | ZFYVE26 | c.4372+2_4372+5del (n.4372+2_4372+5del) n.4509+2_4509+5del c.*2350+321_*2350+324del (n.*2350+321_*2350+324del) c.2863+2_2863+5del (n.2863+2_2863+5del) c.2047+2_2047+5del (n.2047+2_2047+5del) c.1954+2_1954+5del (n.1954+2_1954+5del) | |
| 14 | g.67782776T>C | CA7239786 | ZFYVE26 | c.4372+4A>G (n.4372+4A>G) n.4509+4A>G c.*2350+323A>G (n.*2350+323A>G) c.2863+4A>G (n.2863+4A>G) c.2047+4A>G (n.2047+4A>G) c.1954+4A>G (n.1954+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782776T= | CA2144027615 | ZFYVE26 | c.4372+4A= (n.4372+4A=) n.4509+4A= c.*2350+323A= (n.*2350+323A=) c.2863+4A= (n.2863+4A=) c.2047+4A= (n.2047+4A=) c.1954+4A= (n.1954+4A=) | |
| 14 | g.67782776_67782779delinsTCAC | CA2144027616 | ZFYVE26 | c.4372+1_4372+4delinsGTGA (n.4372+1_4372+4delinsGTGA) n.4509+1_4509+4delinsGTGA c.*2350+320_*2350+323delinsGTGA (n.*2350+320_*2350+323delinsGTGA) c.2863+1_2863+4delinsGTGA (n.2863+1_2863+4delinsGTGA) c.2047+1_2047+4delinsGTGA (n.2047+1_2047+4delinsGTGA) c.1954+1_1954+4delinsGTGA (n.1954+1_1954+4delinsGTGA) | |
| 14 | g.67782777C>T | CA2625374426 | ZFYVE26 | c.4372+3G>A (n.4372+3G>A) n.4509+3G>A c.*2350+322G>A (n.*2350+322G>A) c.2863+3G>A (n.2863+3G>A) c.2047+3G>A (n.2047+3G>A) c.1954+3G>A (n.1954+3G>A) | gnomAD v4 |
| 14 | g.67782780_67782782del | CA658824223 | ZFYVE26 | c.4372+1_4372+3del n.4509+1_4509+3del c.*2350+320_*2350+322del (n.*2350+320_*2350+322del) c.2863+1_2863+3del c.2047+1_2047+3del c.1954+1_1954+3del | ClinVar dbSNP gnomAD v4 |
| 14 | g.67782778A>C | CA390169953 | ZFYVE26 | c.4372+2T>G (n.4372+2T>G) n.4509+2T>G c.*2350+321T>G (n.*2350+321T>G) c.2863+2T>G (n.2863+2T>G) c.2047+2T>G (n.2047+2T>G) c.1954+2T>G (n.1954+2T>G) | |
| 14 | g.67782778A>G | CA390169954 | ZFYVE26 | c.4372+2T>C (n.4372+2T>C) n.4509+2T>C c.*2350+321T>C (n.*2350+321T>C) c.2863+2T>C (n.2863+2T>C) c.2047+2T>C (n.2047+2T>C) c.1954+2T>C (n.1954+2T>C) | |
| 14 | g.67782778A>T | CA390169955 | ZFYVE26 | c.4372+2T>A (n.4372+2T>A) n.4509+2T>A c.*2350+321T>A (n.*2350+321T>A) c.2863+2T>A (n.2863+2T>A) c.2047+2T>A (n.2047+2T>A) c.1954+2T>A (n.1954+2T>A) | |
| 14 | g.67782779C>A | CA390169956 | ZFYVE26 | c.4372+1G>T (n.4372+1G>T) n.4509+1G>T c.*2350+320G>T (n.*2350+320G>T) c.2863+1G>T (n.2863+1G>T) c.2047+1G>T (n.2047+1G>T) c.1954+1G>T (n.1954+1G>T) | |
| 14 | g.67782779C= | CA2144027617 | ZFYVE26 | c.4372+1G= (n.4372+1G=) n.4509+1G= c.*2350+320G= (n.*2350+320G=) c.2863+1G= (n.2863+1G=) c.2047+1G= (n.2047+1G=) c.1954+1G= (n.1954+1G=) | |
| 14 | g.67782779C>G | CA390169957 | ZFYVE26 | c.4372+1G>C (n.4372+1G>C) n.4509+1G>C c.*2350+320G>C (n.*2350+320G>C) c.2863+1G>C (n.2863+1G>C) c.2047+1G>C (n.2047+1G>C) c.1954+1G>C (n.1954+1G>C) | |
| 14 | g.67782779C>T | CA390169958 | ZFYVE26 | c.4372+1G>A (n.4372+1G>A) n.4509+1G>A c.*2350+320G>A (n.*2350+320G>A) c.2863+1G>A (n.2863+1G>A) c.2047+1G>A (n.2047+1G>A) c.1954+1G>A (n.1954+1G>A) | dbSNP gnomAD v4 |
| 14 | g.67782780C>A | CA390169959 | ZFYVE26 | c.4372G>T (p.Asp1458Tyr) n.4509G>T c.*2350+319G>T (n.*2350+319G>T) c.2863G>T (p.Asp955Tyr) c.2047G>T (p.Asp683Tyr) c.1954G>T (p.Asp652Tyr) | |
| 14 | g.67782780C>G | CA390169960 | ZFYVE26 | c.4372G>C (p.Asp1458His) n.4509G>C c.*2350+319G>C (n.*2350+319G>C) c.2863G>C (p.Asp955His) c.2047G>C (p.Asp683His) c.1954G>C (p.Asp652His) | |
| 14 | g.67782780C>T | CA390169961 | ZFYVE26 | c.4372G>A (p.Asp1458Asn) n.4509G>A c.*2350+319G>A (n.*2350+319G>A) c.2863G>A (p.Asp955Asn) c.2047G>A (p.Asp683Asn) c.1954G>A (p.Asp652Asn) | |
| 14 | g.67782781A= | CA2144027618 | ZFYVE26 | c.4371T= (p.Cys1457=) n.4508T= c.*2350+318T= (n.*2350+318T=) c.2862T= (p.Cys954=) c.2046T= (p.Cys682=) c.1953T= (p.Cys651=) | |
| 14 | g.67782781A>C | CA390169962 | ZFYVE26 | c.4371T>G (p.Cys1457Trp) n.4508T>G c.*2350+318T>G (n.*2350+318T>G) c.2862T>G (p.Cys954Trp) c.2046T>G (p.Cys682Trp) c.1953T>G (p.Cys651Trp) | |
| 14 | g.67782781A>G | CA486774757 | ZFYVE26 | c.4371T>C (p.Cys1457=) n.4508T>C c.*2350+318T>C (n.*2350+318T>C) c.2862T>C (p.Cys954=) c.2046T>C (p.Cys682=) c.1953T>C (p.Cys651=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.67782781A>T | CA390169963 | ZFYVE26 | c.4371T>A (p.Cys1457Ter) n.4508T>A c.*2350+318T>A (n.*2350+318T>A) c.2862T>A (p.Cys954Ter) c.2046T>A (p.Cys682Ter) c.1953T>A (p.Cys651Ter) | |
| 14 | g.67782782C>A | CA390169964 | ZFYVE26 | c.4370G>T (p.Cys1457Phe) n.4507G>T c.*2350+317G>T (n.*2350+317G>T) c.2861G>T (p.Cys954Phe) c.2045G>T (p.Cys682Phe) c.1952G>T (p.Cys651Phe) | |
| 14 | g.67782782C= | CA2144027619 | ZFYVE26 | c.4370G= (p.Cys1457=) n.4507G= c.*2350+317G= (n.*2350+317G=) c.2861G= (p.Cys954=) c.2045G= (p.Cys682=) c.1952G= (p.Cys651=) | |
| 14 | g.67782782C>G | CA7239787 | ZFYVE26 | c.4370G>C (p.Cys1457Ser) n.4507G>C c.*2350+317G>C (n.*2350+317G>C) c.2861G>C (p.Cys954Ser) c.2045G>C (p.Cys682Ser) c.1952G>C (p.Cys651Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782782C>T | CA156061 | ZFYVE26 | c.4370G>A (p.Cys1457Tyr) n.4507G>A c.*2350+317G>A (n.*2350+317G>A) c.2861G>A (p.Cys954Tyr) c.2045G>A (p.Cys682Tyr) c.1952G>A (p.Cys651Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782783A= | CA2144027620 | ZFYVE26 | c.4369T= (p.Cys1457=) n.4506T= c.*2350+316T= (n.*2350+316T=) c.2860T= (p.Cys954=) c.2044T= (p.Cys682=) c.1951T= (p.Cys651=) | |
| 14 | g.67782783A>C | CA390169965 | ZFYVE26 | c.4369T>G (p.Cys1457Gly) n.4506T>G c.*2350+316T>G (n.*2350+316T>G) c.2860T>G (p.Cys954Gly) c.2044T>G (p.Cys682Gly) c.1951T>G (p.Cys651Gly) | |
| 14 | g.67782783A>G | CA390169966 | ZFYVE26 | c.4369T>C (p.Cys1457Arg) n.4506T>C c.*2350+316T>C (n.*2350+316T>C) c.2860T>C (p.Cys954Arg) c.2044T>C (p.Cys682Arg) c.1951T>C (p.Cys651Arg) | |
| 14 | g.67782783A>T | CA390169967 | ZFYVE26 | c.4369T>A (p.Cys1457Ser) n.4506T>A c.*2350+316T>A (n.*2350+316T>A) c.2860T>A (p.Cys954Ser) c.2044T>A (p.Cys682Ser) c.1951T>A (p.Cys651Ser) | ClinVar dbSNP |
| 14 | g.67782784T>A | CA486774760 | ZFYVE26 | c.4368A>T (p.Ala1456=) n.4505A>T c.*2350+315A>T (n.*2350+315A>T) c.2859A>T (p.Ala953=) c.2043A>T (p.Ala681=) c.1950A>T (p.Ala650=) | |
| 14 | g.67782784T>C | CA486774758 | ZFYVE26 | c.4368A>G (p.Ala1456=) n.4505A>G c.*2350+315A>G (n.*2350+315A>G) c.2859A>G (p.Ala953=) c.2043A>G (p.Ala681=) c.1950A>G (p.Ala650=) | |
| 14 | g.67782784T>G | CA486774759 | ZFYVE26 | c.4368A>C (p.Ala1456=) n.4505A>C c.*2350+315A>C (n.*2350+315A>C) c.2859A>C (p.Ala953=) c.2043A>C (p.Ala681=) c.1950A>C (p.Ala650=) | |
| 14 | g.67782784_67782785delinsTG | CA2144027621 | ZFYVE26 | c.4367_4368delinsCA (p.Ala1456=) n.4504_4505delinsCA c.*2350+314_*2350+315delinsCA (n.*2350+314_*2350+315delinsCA) c.2858_2859delinsCA (p.Ala953=) c.2042_2043delinsCA (p.Ala681=) c.1949_1950delinsCA (p.Ala650=) | |
| 14 | g.67782785del | CA262848394 | ZFYVE26 | c.4367del (p.Ala1456AspfsTer13) n.4504del c.*2350+314del (n.*2350+314del) c.2858del (p.Ala953AspfsTer13) c.2042del (p.Ala681AspfsTer13) c.1949del (p.Ala650AspfsTer13) | dbSNP gnomAD v4 |
| 14 | g.67782785G>A | CA390169970 | ZFYVE26 | c.4367C>T (p.Ala1456Val) n.4504C>T c.*2350+314C>T (n.*2350+314C>T) c.2858C>T (p.Ala953Val) c.2042C>T (p.Ala681Val) c.1949C>T (p.Ala650Val) | |
| 14 | g.67782785G>C | CA390169969 | ZFYVE26 | c.4367C>G (p.Ala1456Gly) n.4504C>G c.*2350+314C>G (n.*2350+314C>G) c.2858C>G (p.Ala953Gly) c.2042C>G (p.Ala681Gly) c.1949C>G (p.Ala650Gly) | |
| 14 | g.67782785G>T | CA390169968 | ZFYVE26 | c.4367C>A (p.Ala1456Glu) n.4504C>A c.*2350+314C>A (n.*2350+314C>A) c.2858C>A (p.Ala953Glu) c.2042C>A (p.Ala681Glu) c.1949C>A (p.Ala650Glu) | |
| 14 | g.67782786C>A | CA390169971 | ZFYVE26 | c.4366G>T (p.Ala1456Ser) n.4503G>T c.*2350+313G>T (n.*2350+313G>T) c.2857G>T (p.Ala953Ser) c.2041G>T (p.Ala681Ser) c.1948G>T (p.Ala650Ser) | |
| 14 | g.67782786C= | CA2144027622 | ZFYVE26 | c.4366G= (p.Ala1456=) n.4503G= c.*2350+313G= (n.*2350+313G=) c.2857G= (p.Ala953=) c.2041G= (p.Ala681=) c.1948G= (p.Ala650=) | |
| 14 | g.67782786C>G | CA390169972 | ZFYVE26 | c.4366G>C (p.Ala1456Pro) n.4503G>C c.*2350+313G>C (n.*2350+313G>C) c.2857G>C (p.Ala953Pro) c.2041G>C (p.Ala681Pro) c.1948G>C (p.Ala650Pro) | |
| 14 | g.67782786C>T | CA7239788 | ZFYVE26 | c.4366G>A (p.Ala1456Thr) n.4503G>A c.*2350+313G>A (n.*2350+313G>A) c.2857G>A (p.Ala953Thr) c.2041G>A (p.Ala681Thr) c.1948G>A (p.Ala650Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782787C>A | CA486774761 | ZFYVE26 | c.4365G>T (p.Val1455=) n.4502G>T c.*2350+312G>T (n.*2350+312G>T) c.2856G>T (p.Val952=) c.2040G>T (p.Val680=) c.1947G>T (p.Val649=) | |
| 14 | g.67782787C>G | CA486774762 | ZFYVE26 | c.4365G>C (p.Val1455=) n.4502G>C c.*2350+312G>C (n.*2350+312G>C) c.2856G>C (p.Val952=) c.2040G>C (p.Val680=) c.1947G>C (p.Val649=) | |
| 14 | g.67782787C>T | CA486774763 | ZFYVE26 | c.4365G>A (p.Val1455=) n.4502G>A c.*2350+312G>A (n.*2350+312G>A) c.2856G>A (p.Val952=) c.2040G>A (p.Val680=) c.1947G>A (p.Val649=) | |
| 14 | g.67782788A>C | CA390169973 | ZFYVE26 | c.4364T>G (p.Val1455Gly) n.4501T>G c.*2350+311T>G (n.*2350+311T>G) c.2855T>G (p.Val952Gly) c.2039T>G (p.Val680Gly) c.1946T>G (p.Val649Gly) | |
| 14 | g.67782788A>G | CA390169974 | ZFYVE26 | c.4364T>C (p.Val1455Ala) n.4501T>C c.*2350+311T>C (n.*2350+311T>C) c.2855T>C (p.Val952Ala) c.2039T>C (p.Val680Ala) c.1946T>C (p.Val649Ala) | |
| 14 | g.67782788A>T | CA390169975 | ZFYVE26 | c.4364T>A (p.Val1455Glu) n.4501T>A c.*2350+311T>A (n.*2350+311T>A) c.2855T>A (p.Val952Glu) c.2039T>A (p.Val680Glu) c.1946T>A (p.Val649Glu) | |
| 14 | g.67782789C>A | CA390169976 | ZFYVE26 | c.4363G>T (p.Val1455Leu) n.4500G>T c.*2350+310G>T (n.*2350+310G>T) c.2854G>T (p.Val952Leu) c.2038G>T (p.Val680Leu) c.1945G>T (p.Val649Leu) | |
| 14 | g.67782789C= | CA2144027623 | ZFYVE26 | c.4363G= (p.Val1455=) n.4500G= c.*2350+310G= (n.*2350+310G=) c.2854G= (p.Val952=) c.2038G= (p.Val680=) c.1945G= (p.Val649=) | |
| 14 | g.67782789C>G | CA390169977 | ZFYVE26 | c.4363G>C (p.Val1455Leu) n.4500G>C c.*2350+310G>C (n.*2350+310G>C) c.2854G>C (p.Val952Leu) c.2038G>C (p.Val680Leu) c.1945G>C (p.Val649Leu) | |
| 14 | g.67782789C>T | CA7239789 | ZFYVE26 | c.4363G>A (p.Val1455Met) n.4500G>A c.*2350+310G>A (n.*2350+310G>A) c.2854G>A (p.Val952Met) c.2038G>A (p.Val680Met) c.1945G>A (p.Val649Met) | dbSNP ExAC gnomAD v2 |
| 14 | g.67782790A>C | CA486774764 | ZFYVE26 | c.4362T>G (p.Ala1454=) n.4499T>G c.*2350+309T>G (n.*2350+309T>G) c.2853T>G (p.Ala951=) c.2037T>G (p.Ala679=) c.1944T>G (p.Ala648=) | |
| 14 | g.67782790A>G | CA486774765 | ZFYVE26 | c.4362T>C (p.Ala1454=) n.4499T>C c.*2350+309T>C (n.*2350+309T>C) c.2853T>C (p.Ala951=) c.2037T>C (p.Ala679=) c.1944T>C (p.Ala648=) | gnomAD v4 |
| 14 | g.67782790A>T | CA486774766 | ZFYVE26 | c.4362T>A (p.Ala1454=) n.4499T>A c.*2350+309T>A (n.*2350+309T>A) c.2853T>A (p.Ala951=) c.2037T>A (p.Ala679=) c.1944T>A (p.Ala648=) | |
| 14 | g.67782791G>A | CA390169978 | ZFYVE26 | c.4361C>T (p.Ala1454Val) n.4498C>T c.*2350+308C>T (n.*2350+308C>T) c.2852C>T (p.Ala951Val) c.2036C>T (p.Ala679Val) c.1943C>T (p.Ala648Val) | |
| 14 | g.67782791G>C | CA390169980 | ZFYVE26 | c.4361C>G (p.Ala1454Gly) n.4498C>G c.*2350+308C>G (n.*2350+308C>G) c.2852C>G (p.Ala951Gly) c.2036C>G (p.Ala679Gly) c.1943C>G (p.Ala648Gly) | dbSNP |
| 14 | g.67782791G= | CA2144027624 | ZFYVE26 | c.4361C= (p.Ala1454=) n.4498C= c.*2350+308C= (n.*2350+308C=) c.2852C= (p.Ala951=) c.2036C= (p.Ala679=) c.1943C= (p.Ala648=) | |
| 14 | g.67782791G>T | CA390169979 | ZFYVE26 | c.4361C>A (p.Ala1454Asp) n.4498C>A c.*2350+308C>A (n.*2350+308C>A) c.2852C>A (p.Ala951Asp) c.2036C>A (p.Ala679Asp) c.1943C>A (p.Ala648Asp) | |
| 14 | g.67782792C>A | CA390169981 | ZFYVE26 | c.4360G>T (p.Ala1454Ser) n.4497G>T c.*2350+307G>T (n.*2350+307G>T) c.2851G>T (p.Ala951Ser) c.2035G>T (p.Ala679Ser) c.1942G>T (p.Ala648Ser) | ClinVar |
| 14 | g.67782792C>G | CA390169983 | ZFYVE26 | c.4360G>C (p.Ala1454Pro) n.4497G>C c.*2350+307G>C (n.*2350+307G>C) c.2851G>C (p.Ala951Pro) c.2035G>C (p.Ala679Pro) c.1942G>C (p.Ala648Pro) | |
| 14 | g.67782792C>T | CA390169982 | ZFYVE26 | c.4360G>A (p.Ala1454Thr) n.4497G>A c.*2350+307G>A (n.*2350+307G>A) c.2851G>A (p.Ala951Thr) c.2035G>A (p.Ala679Thr) c.1942G>A (p.Ala648Thr) | |
| 14 | g.67782793A= | CA2144027625 | ZFYVE26 | c.4359T= (p.Cys1453=) n.4496T= c.*2350+306T= (n.*2350+306T=) c.2850T= (p.Cys950=) c.2034T= (p.Cys678=) c.1941T= (p.Cys647=) | |
| 14 | g.67782793A>C | CA390169984 | ZFYVE26 | c.4359T>G (p.Cys1453Trp) n.4496T>G c.*2350+306T>G (n.*2350+306T>G) c.2850T>G (p.Cys950Trp) c.2034T>G (p.Cys678Trp) c.1941T>G (p.Cys647Trp) | |
| 14 | g.67782793A>G | CA486774767 | ZFYVE26 | c.4359T>C (p.Cys1453=) n.4496T>C c.*2350+306T>C (n.*2350+306T>C) c.2850T>C (p.Cys950=) c.2034T>C (p.Cys678=) c.1941T>C (p.Cys647=) | |
| 14 | g.67782793A>T | CA390169985 | ZFYVE26 | c.4359T>A (p.Cys1453Ter) n.4496T>A c.*2350+306T>A (n.*2350+306T>A) c.2850T>A (p.Cys950Ter) c.2034T>A (p.Cys678Ter) c.1941T>A (p.Cys647Ter) | ClinVar dbSNP |
| 14 | g.67782794C>A | CA390169986 | ZFYVE26 | c.4358G>T (p.Cys1453Phe) n.4495G>T c.*2350+305G>T (n.*2350+305G>T) c.2849G>T (p.Cys950Phe) c.2033G>T (p.Cys678Phe) c.1940G>T (p.Cys647Phe) | |
| 14 | g.67782794C= | CA2144027626 | ZFYVE26 | c.4358G= (p.Cys1453=) n.4495G= c.*2350+305G= (n.*2350+305G=) c.2849G= (p.Cys950=) c.2033G= (p.Cys678=) c.1940G= (p.Cys647=) | |
| 14 | g.67782794C>G | CA390169987 | ZFYVE26 | c.4358G>C (p.Cys1453Ser) n.4495G>C c.*2350+305G>C (n.*2350+305G>C) c.2849G>C (p.Cys950Ser) c.2033G>C (p.Cys678Ser) c.1940G>C (p.Cys647Ser) | dbSNP |
| 14 | g.67782794C>T | CA390169988 | ZFYVE26 | c.4358G>A (p.Cys1453Tyr) n.4495G>A c.*2350+305G>A (n.*2350+305G>A) c.2849G>A (p.Cys950Tyr) c.2033G>A (p.Cys678Tyr) c.1940G>A (p.Cys647Tyr) | |
| 14 | g.67782795A= | CA2144027627 | ZFYVE26 | c.4357T= (p.Cys1453=) n.4494T= c.*2350+304T= (n.*2350+304T=) c.2848T= (p.Cys950=) c.2032T= (p.Cys678=) c.1939T= (p.Cys647=) | |
| 14 | g.67782795A>C | CA262848410 | ZFYVE26 | c.4357T>G (p.Cys1453Gly) n.4494T>G c.*2350+304T>G (n.*2350+304T>G) c.2848T>G (p.Cys950Gly) c.2032T>G (p.Cys678Gly) c.1939T>G (p.Cys647Gly) | dbSNP gnomAD v4 |
| 14 | g.67782795A>G | CA390169989 | ZFYVE26 | c.4357T>C (p.Cys1453Arg) n.4494T>C c.*2350+304T>C (n.*2350+304T>C) c.2848T>C (p.Cys950Arg) c.2032T>C (p.Cys678Arg) c.1939T>C (p.Cys647Arg) | |
| 14 | g.67782795A>T | CA390169990 | ZFYVE26 | c.4357T>A (p.Cys1453Ser) n.4494T>A c.*2350+304T>A (n.*2350+304T>A) c.2848T>A (p.Cys950Ser) c.2032T>A (p.Cys678Ser) c.1939T>A (p.Cys647Ser) | |
| 14 | g.67782796G>A | CA7239790 | ZFYVE26 | c.4356C>T (p.Ser1452=) n.4493C>T c.*2350+303C>T (n.*2350+303C>T) c.2847C>T (p.Ser949=) c.2031C>T (p.Ser677=) c.1938C>T (p.Ser646=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782796G>C | CA390169991 | ZFYVE26 | c.4356C>G (p.Ser1452Arg) n.4493C>G c.*2350+303C>G (n.*2350+303C>G) c.2847C>G (p.Ser949Arg) c.2031C>G (p.Ser677Arg) c.1938C>G (p.Ser646Arg) | |
| 14 | g.67782796G= | CA2144027628 | ZFYVE26 | c.4356C= (p.Ser1452=) n.4493C= c.*2350+303C= (n.*2350+303C=) c.2847C= (p.Ser949=) c.2031C= (p.Ser677=) c.1938C= (p.Ser646=) | |
| 14 | g.67782796G>T | CA390169992 | ZFYVE26 | c.4356C>A (p.Ser1452Arg) n.4493C>A c.*2350+303C>A (n.*2350+303C>A) c.2847C>A (p.Ser949Arg) c.2031C>A (p.Ser677Arg) c.1938C>A (p.Ser646Arg) | |
| 14 | g.67782797C>A | CA7239791 | ZFYVE26 | c.4355G>T (p.Ser1452Ile) n.4492G>T c.*2350+302G>T (n.*2350+302G>T) c.2846G>T (p.Ser949Ile) c.2030G>T (p.Ser677Ile) c.1937G>T (p.Ser646Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782797C= | CA2144027629 | ZFYVE26 | c.4355G= (p.Ser1452=) n.4492G= c.*2350+302G= (n.*2350+302G=) c.2846G= (p.Ser949=) c.2030G= (p.Ser677=) c.1937G= (p.Ser646=) | |
| 14 | g.67782797C>G | CA390169994 | ZFYVE26 | c.4355G>C (p.Ser1452Thr) n.4492G>C c.*2350+302G>C (n.*2350+302G>C) c.2846G>C (p.Ser949Thr) c.2030G>C (p.Ser677Thr) c.1937G>C (p.Ser646Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782797C>T | CA390169993 | ZFYVE26 | c.4355G>A (p.Ser1452Asn) n.4492G>A c.*2350+302G>A (n.*2350+302G>A) c.2846G>A (p.Ser949Asn) c.2030G>A (p.Ser677Asn) c.1937G>A (p.Ser646Asn) | |
| 14 | g.67782798T>A | CA390169995 | ZFYVE26 | c.4354A>T (p.Ser1452Cys) n.4491A>T c.*2350+301A>T (n.*2350+301A>T) c.2845A>T (p.Ser949Cys) c.2029A>T (p.Ser677Cys) c.1936A>T (p.Ser646Cys) | |
| 14 | g.67782798T>C | CA390169996 | ZFYVE26 | c.4354A>G (p.Ser1452Gly) n.4491A>G c.*2350+301A>G (n.*2350+301A>G) c.2845A>G (p.Ser949Gly) c.2029A>G (p.Ser677Gly) c.1936A>G (p.Ser646Gly) | |
| 14 | g.67782798T>G | CA390169997 | ZFYVE26 | c.4354A>C (p.Ser1452Arg) n.4491A>C c.*2350+301A>C (n.*2350+301A>C) c.2845A>C (p.Ser949Arg) c.2029A>C (p.Ser677Arg) c.1936A>C (p.Ser646Arg) | |
| 14 | g.67782799C>A | CA486774769 | ZFYVE26 | c.4353G>T (p.Leu1451=) n.4490G>T c.*2350+300G>T (n.*2350+300G>T) c.2844G>T (p.Leu948=) c.2028G>T (p.Leu676=) c.1935G>T (p.Leu645=) | |
| 14 | g.67782799C= | CA2144027630 | ZFYVE26 | c.4353G= (p.Leu1451=) n.4490G= c.*2350+300G= (n.*2350+300G=) c.2844G= (p.Leu948=) c.2028G= (p.Leu676=) c.1935G= (p.Leu645=) | |
| 14 | g.67782799C>G | CA486774770 | ZFYVE26 | c.4353G>C (p.Leu1451=) n.4490G>C c.*2350+300G>C (n.*2350+300G>C) c.2844G>C (p.Leu948=) c.2028G>C (p.Leu676=) c.1935G>C (p.Leu645=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67782799C>T | CA486774771 | ZFYVE26 | c.4353G>A (p.Leu1451=) n.4490G>A c.*2350+300G>A (n.*2350+300G>A) c.2844G>A (p.Leu948=) c.2028G>A (p.Leu676=) c.1935G>A (p.Leu645=) | |
| 14 | g.67782800A>C | CA390169998 | ZFYVE26 | c.4352T>G (p.Leu1451Arg) n.4489T>G c.*2350+299T>G (n.*2350+299T>G) c.2843T>G (p.Leu948Arg) c.2027T>G (p.Leu676Arg) c.1934T>G (p.Leu645Arg) | |
| 14 | g.67782800A>G | CA390169999 | ZFYVE26 | c.4352T>C (p.Leu1451Pro) n.4489T>C c.*2350+299T>C (n.*2350+299T>C) c.2843T>C (p.Leu948Pro) c.2027T>C (p.Leu676Pro) c.1934T>C (p.Leu645Pro) | |
| 14 | g.67782800A>T | CA390170000 | ZFYVE26 | c.4352T>A (p.Leu1451Gln) n.4489T>A c.*2350+299T>A (n.*2350+299T>A) c.2843T>A (p.Leu948Gln) c.2027T>A (p.Leu676Gln) c.1934T>A (p.Leu645Gln) | |
| 14 | g.67782801G>A | CA486774772 | ZFYVE26 | c.4351C>T (p.Leu1451=) n.4488C>T c.*2350+298C>T (n.*2350+298C>T) c.2842C>T (p.Leu948=) c.2026C>T (p.Leu676=) c.1933C>T (p.Leu645=) | |
| 14 | g.67782801G>C | CA390170001 | ZFYVE26 | c.4351C>G (p.Leu1451Val) n.4488C>G c.*2350+298C>G (n.*2350+298C>G) c.2842C>G (p.Leu948Val) c.2026C>G (p.Leu676Val) c.1933C>G (p.Leu645Val) | |
| 14 | g.67782801G>T | CA390170002 | ZFYVE26 | c.4351C>A (p.Leu1451Met) n.4488C>A c.*2350+298C>A (n.*2350+298C>A) c.2842C>A (p.Leu948Met) c.2026C>A (p.Leu676Met) c.1933C>A (p.Leu645Met) | |
| 14 | g.67782802G>A | CA486774773 | ZFYVE26 | c.4350C>T (p.Val1450=) n.4487C>T c.*2350+297C>T (n.*2350+297C>T) c.2841C>T (p.Val947=) c.2025C>T (p.Val675=) c.1932C>T (p.Val644=) | ClinVar dbSNP COSMIC |
| 14 | g.67782802G>C | CA486774774 | ZFYVE26 | c.4350C>G (p.Val1450=) n.4487C>G c.*2350+297C>G (n.*2350+297C>G) c.2841C>G (p.Val947=) c.2025C>G (p.Val675=) c.1932C>G (p.Val644=) | |
| 14 | g.67782802G= | CA2144027631 | ZFYVE26 | c.4350C= (p.Val1450=) n.4487C= c.*2350+297C= (n.*2350+297C=) c.2841C= (p.Val947=) c.2025C= (p.Val675=) c.1932C= (p.Val644=) | |
| 14 | g.67782802G>T | CA486774775 | ZFYVE26 | c.4350C>A (p.Val1450=) n.4487C>A c.*2350+297C>A (n.*2350+297C>A) c.2841C>A (p.Val947=) c.2025C>A (p.Val675=) c.1932C>A (p.Val644=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.67782803A>C | CA390170003 | ZFYVE26 | c.4349T>G (p.Val1450Gly) n.4486T>G c.*2350+296T>G (n.*2350+296T>G) c.2840T>G (p.Val947Gly) c.2024T>G (p.Val675Gly) c.1931T>G (p.Val644Gly) | |
| 14 | g.67782803A>G | CA390170004 | ZFYVE26 | c.4349T>C (p.Val1450Ala) n.4486T>C c.*2350+296T>C (n.*2350+296T>C) c.2840T>C (p.Val947Ala) c.2024T>C (p.Val675Ala) c.1931T>C (p.Val644Ala) | |
| 14 | g.67782803A>T | CA390170005 | ZFYVE26 | c.4349T>A (p.Val1450Asp) n.4486T>A c.*2350+296T>A (n.*2350+296T>A) c.2840T>A (p.Val947Asp) c.2024T>A (p.Val675Asp) c.1931T>A (p.Val644Asp) | |
| 14 | g.67782804C>A | CA7239792 | ZFYVE26 | c.4348G>T (p.Val1450Phe) n.4485G>T c.*2350+295G>T (n.*2350+295G>T) c.2839G>T (p.Val947Phe) c.2023G>T (p.Val675Phe) c.1930G>T (p.Val644Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782804C= | CA2144027632 | ZFYVE26 | c.4348G= (p.Val1450=) n.4485G= c.*2350+295G= (n.*2350+295G=) c.2839G= (p.Val947=) c.2023G= (p.Val675=) c.1930G= (p.Val644=) | |
| 14 | g.67782804C>G | CA390170007 | ZFYVE26 | c.4348G>C (p.Val1450Leu) n.4485G>C c.*2350+295G>C (n.*2350+295G>C) c.2839G>C (p.Val947Leu) c.2023G>C (p.Val675Leu) c.1930G>C (p.Val644Leu) | |
| 14 | g.67782804C>T | CA390170006 | ZFYVE26 | c.4348G>A (p.Val1450Ile) n.4485G>A c.*2350+295G>A (n.*2350+295G>A) c.2839G>A (p.Val947Ile) c.2023G>A (p.Val675Ile) c.1930G>A (p.Val644Ile) | |
| 14 | g.67782805T>A | CA486774776 | ZFYVE26 | c.4347A>T (p.Ala1449=) n.4484A>T c.*2350+294A>T (n.*2350+294A>T) c.2838A>T (p.Ala946=) c.2022A>T (p.Ala674=) c.1929A>T (p.Ala643=) | |
| 14 | g.67782805T>C | CA486774777 | ZFYVE26 | c.4347A>G (p.Ala1449=) n.4484A>G c.*2350+294A>G (n.*2350+294A>G) c.2838A>G (p.Ala946=) c.2022A>G (p.Ala674=) c.1929A>G (p.Ala643=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782805T>G | CA486774778 | ZFYVE26 | c.4347A>C (p.Ala1449=) n.4484A>C c.*2350+294A>C (n.*2350+294A>C) c.2838A>C (p.Ala946=) c.2022A>C (p.Ala674=) c.1929A>C (p.Ala643=) | |
| 14 | g.67782805T= | CA2144027633 | ZFYVE26 | c.4347A= (p.Ala1449=) n.4484A= c.*2350+294A= (n.*2350+294A=) c.2838A= (p.Ala946=) c.2022A= (p.Ala674=) c.1929A= (p.Ala643=) | |
| 14 | g.67782806G>A | CA390170009 | ZFYVE26 | c.4346C>T (p.Ala1449Val) n.4483C>T c.*2350+293C>T (n.*2350+293C>T) c.2837C>T (p.Ala946Val) c.2021C>T (p.Ala674Val) c.1928C>T (p.Ala643Val) | |
| 14 | g.67782806G>C | CA390170010 | ZFYVE26 | c.4346C>G (p.Ala1449Gly) n.4483C>G c.*2350+293C>G (n.*2350+293C>G) c.2837C>G (p.Ala946Gly) c.2021C>G (p.Ala674Gly) c.1928C>G (p.Ala643Gly) | |
| 14 | g.67782806G>T | CA390170011 | ZFYVE26 | c.4346C>A (p.Ala1449Glu) n.4483C>A c.*2350+293C>A (n.*2350+293C>A) c.2837C>A (p.Ala946Glu) c.2021C>A (p.Ala674Glu) c.1928C>A (p.Ala643Glu) | |
| 14 | g.67782807C>A | CA390170012 | ZFYVE26 | c.4345G>T (p.Ala1449Ser) n.4482G>T c.*2350+292G>T (n.*2350+292G>T) c.2836G>T (p.Ala946Ser) c.2020G>T (p.Ala674Ser) c.1927G>T (p.Ala643Ser) | |
| 14 | g.67782807C= | CA2144027634 | ZFYVE26 | c.4345G= (p.Ala1449=) n.4482G= c.*2350+292G= (n.*2350+292G=) c.2836G= (p.Ala946=) c.2020G= (p.Ala674=) c.1927G= (p.Ala643=) | |
| 14 | g.67782807C>G | CA390170014 | ZFYVE26 | c.4345G>C (p.Ala1449Pro) n.4482G>C c.*2350+292G>C (n.*2350+292G>C) c.2836G>C (p.Ala946Pro) c.2020G>C (p.Ala674Pro) c.1927G>C (p.Ala643Pro) | dbSNP |
| 14 | g.67782807C>T | CA390170016 | ZFYVE26 | c.4345G>A (p.Ala1449Thr) n.4482G>A c.*2350+292G>A (n.*2350+292G>A) c.2836G>A (p.Ala946Thr) c.2020G>A (p.Ala674Thr) c.1927G>A (p.Ala643Thr) | ClinVar dbSNP |
| 14 | g.67782808A>C | CA390170017 | ZFYVE26 | c.4344T>G (p.Asp1448Glu) n.4481T>G c.*2350+291T>G (n.*2350+291T>G) c.2835T>G (p.Asp945Glu) c.2019T>G (p.Asp673Glu) c.1926T>G (p.Asp642Glu) | |
| 14 | g.67782808A>G | CA486774779 | ZFYVE26 | c.4344T>C (p.Asp1448=) n.4481T>C c.*2350+291T>C (n.*2350+291T>C) c.2835T>C (p.Asp945=) c.2019T>C (p.Asp673=) c.1926T>C (p.Asp642=) | |
| 14 | g.67782808A>T | CA390170019 | ZFYVE26 | c.4344T>A (p.Asp1448Glu) n.4481T>A c.*2350+291T>A (n.*2350+291T>A) c.2835T>A (p.Asp945Glu) c.2019T>A (p.Asp673Glu) c.1926T>A (p.Asp642Glu) | |
| 14 | g.67782809T>A | CA390170020 | ZFYVE26 | c.4343A>T (p.Asp1448Val) n.4480A>T c.*2350+290A>T (n.*2350+290A>T) c.2834A>T (p.Asp945Val) c.2018A>T (p.Asp673Val) c.1925A>T (p.Asp642Val) | |
| 14 | g.67782809T>C | CA390170021 | ZFYVE26 | c.4343A>G (p.Asp1448Gly) n.4480A>G c.*2350+290A>G (n.*2350+290A>G) c.2834A>G (p.Asp945Gly) c.2018A>G (p.Asp673Gly) c.1925A>G (p.Asp642Gly) | |
| 14 | g.67782809T>G | CA390170022 | ZFYVE26 | c.4343A>C (p.Asp1448Ala) n.4480A>C c.*2350+290A>C (n.*2350+290A>C) c.2834A>C (p.Asp945Ala) c.2018A>C (p.Asp673Ala) c.1925A>C (p.Asp642Ala) | |
| 14 | g.67782810C>A | CA390170025 | ZFYVE26 | c.4342G>T (p.Asp1448Tyr) n.4479G>T c.*2350+289G>T (n.*2350+289G>T) c.2833G>T (p.Asp945Tyr) c.2017G>T (p.Asp673Tyr) c.1924G>T (p.Asp642Tyr) | |
| 14 | g.67782810C>G | CA390170027 | ZFYVE26 | c.4342G>C (p.Asp1448His) n.4479G>C c.*2350+289G>C (n.*2350+289G>C) c.2833G>C (p.Asp945His) c.2017G>C (p.Asp673His) c.1924G>C (p.Asp642His) | |
| 14 | g.67782810C>T | CA390170029 | ZFYVE26 | c.4342G>A (p.Asp1448Asn) n.4479G>A c.*2350+289G>A (n.*2350+289G>A) c.2833G>A (p.Asp945Asn) c.2017G>A (p.Asp673Asn) c.1924G>A (p.Asp642Asn) | gnomAD v4 |
| 14 | g.67782810_67782811delinsT | CA2580088638 | ZFYVE26 | c.4341_4342delinsA (p.Asp1448MetfsTer4) n.4478_4479delinsA c.*2350+288_*2350+289delinsA (n.*2350+288_*2350+289delinsA) c.2832_2833delinsA (p.Asp945MetfsTer4) c.2016_2017delinsA (p.Asp673MetfsTer4) c.1923_1924delinsA (p.Asp642MetfsTer4) | ClinVar |
| 14 | g.67782811C>A | CA390170031 | ZFYVE26 | c.4341G>T (p.Lys1447Asn) n.4478G>T c.*2350+288G>T (n.*2350+288G>T) c.2832G>T (p.Lys944Asn) c.2016G>T (p.Lys672Asn) c.1923G>T (p.Lys641Asn) | |
| 14 | g.67782811C= | CA2144027635 | ZFYVE26 | c.4341G= (p.Lys1447=) n.4478G= c.*2350+288G= (n.*2350+288G=) c.2832G= (p.Lys944=) c.2016G= (p.Lys672=) c.1923G= (p.Lys641=) | |
| 14 | g.67782811C>G | CA390170033 | ZFYVE26 | c.4341G>C (p.Lys1447Asn) n.4478G>C c.*2350+288G>C (n.*2350+288G>C) c.2832G>C (p.Lys944Asn) c.2016G>C (p.Lys672Asn) c.1923G>C (p.Lys641Asn) | |
| 14 | g.67782811C>T | CA486970508 | ZFYVE26 | c.4341G>A (p.Lys1447=) n.4478G>A c.*2350+288G>A (n.*2350+288G>A) c.2832G>A (p.Lys944=) c.2016G>A (p.Lys672=) c.1923G>A (p.Lys641=) | ClinVar dbSNP |
| 14 | g.67782812T>A | CA390170035 | ZFYVE26 | c.4340A>T (p.Lys1447Met) n.4477A>T c.*2350+287A>T (n.*2350+287A>T) c.2831A>T (p.Lys944Met) c.2015A>T (p.Lys672Met) c.1922A>T (p.Lys641Met) | |
| 14 | g.67782812T>C | CA390170037 | ZFYVE26 | c.4340A>G (p.Lys1447Arg) n.4477A>G c.*2350+287A>G (n.*2350+287A>G) c.2831A>G (p.Lys944Arg) c.2015A>G (p.Lys672Arg) c.1922A>G (p.Lys641Arg) | |
| 14 | g.67782812T>G | CA390170039 | ZFYVE26 | c.4340A>C (p.Lys1447Thr) n.4477A>C c.*2350+287A>C (n.*2350+287A>C) c.2831A>C (p.Lys944Thr) c.2015A>C (p.Lys672Thr) c.1922A>C (p.Lys641Thr) | |
| 14 | g.67782813T>A | CA390170041 | ZFYVE26 | c.4339A>T (p.Lys1447Ter) n.4476A>T c.*2350+286A>T (n.*2350+286A>T) c.2830A>T (p.Lys944Ter) c.2014A>T (p.Lys672Ter) c.1921A>T (p.Lys641Ter) | ClinVar |
| 14 | g.67782813T>C | CA390170043 | ZFYVE26 | c.4339A>G (p.Lys1447Glu) n.4476A>G c.*2350+286A>G (n.*2350+286A>G) c.2830A>G (p.Lys944Glu) c.2014A>G (p.Lys672Glu) c.1921A>G (p.Lys641Glu) | |
| 14 | g.67782813T>G | CA390170045 | ZFYVE26 | c.4339A>C (p.Lys1447Gln) n.4476A>C c.*2350+286A>C (n.*2350+286A>C) c.2830A>C (p.Lys944Gln) c.2014A>C (p.Lys672Gln) c.1921A>C (p.Lys641Gln) | |
| 14 | g.67782814T>A | CA7239793 | ZFYVE26 | c.4338A>T (p.Ile1446=) n.4475A>T c.*2350+285A>T (n.*2350+285A>T) c.2829A>T (p.Ile943=) c.2013A>T (p.Ile671=) c.1920A>T (p.Ile640=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782814T>C | CA390170047 | ZFYVE26 | c.4338A>G (p.Ile1446Met) n.4475A>G c.*2350+285A>G (n.*2350+285A>G) c.2829A>G (p.Ile943Met) c.2013A>G (p.Ile671Met) c.1920A>G (p.Ile640Met) | gnomAD v4 |
| 14 | g.67782814T>G | CA486970509 | ZFYVE26 | c.4338A>C (p.Ile1446=) n.4475A>C c.*2350+285A>C (n.*2350+285A>C) c.2829A>C (p.Ile943=) c.2013A>C (p.Ile671=) c.1920A>C (p.Ile640=) | |
| 14 | g.67782814T= | CA2144027636 | ZFYVE26 | c.4338A= (p.Ile1446=) n.4475A= c.*2350+285A= (n.*2350+285A=) c.2829A= (p.Ile943=) c.2013A= (p.Ile671=) c.1920A= (p.Ile640=) | |
| 14 | g.67782815A>C | CA390170049 | ZFYVE26 | c.4337T>G (p.Ile1446Arg) n.4474T>G c.*2350+284T>G (n.*2350+284T>G) c.2828T>G (p.Ile943Arg) c.2012T>G (p.Ile671Arg) c.1919T>G (p.Ile640Arg) | |
| 14 | g.67782815A>G | CA390170051 | ZFYVE26 | c.4337T>C (p.Ile1446Thr) n.4474T>C c.*2350+284T>C (n.*2350+284T>C) c.2828T>C (p.Ile943Thr) c.2012T>C (p.Ile671Thr) c.1919T>C (p.Ile640Thr) | |
| 14 | g.67782815A>T | CA390170052 | ZFYVE26 | c.4337T>A (p.Ile1446Lys) n.4474T>A c.*2350+284T>A (n.*2350+284T>A) c.2828T>A (p.Ile943Lys) c.2012T>A (p.Ile671Lys) c.1919T>A (p.Ile640Lys) | |
| 14 | g.67782816T>A | CA390170054 | ZFYVE26 | c.4336A>T (p.Ile1446Leu) n.4473A>T c.*2350+283A>T (n.*2350+283A>T) c.2827A>T (p.Ile943Leu) c.2011A>T (p.Ile671Leu) c.1918A>T (p.Ile640Leu) | |
| 14 | g.67782816T>C | CA7239794 | ZFYVE26 | c.4336A>G (p.Ile1446Val) n.4473A>G c.*2350+283A>G (n.*2350+283A>G) c.2827A>G (p.Ile943Val) c.2011A>G (p.Ile671Val) c.1918A>G (p.Ile640Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782816T>G | CA390170053 | ZFYVE26 | c.4336A>C (p.Ile1446Leu) n.4473A>C c.*2350+283A>C (n.*2350+283A>C) c.2827A>C (p.Ile943Leu) c.2011A>C (p.Ile671Leu) c.1918A>C (p.Ile640Leu) | |
| 14 | g.67782816T= | CA2144027637 | ZFYVE26 | c.4336A= (p.Ile1446=) n.4473A= c.*2350+283A= (n.*2350+283A=) c.2827A= (p.Ile943=) c.2011A= (p.Ile671=) c.1918A= (p.Ile640=) | |
| 14 | g.67782817G>A | CA7239795 | ZFYVE26 | c.4335C>T (p.Ser1445=) n.4472C>T c.*2350+282C>T (n.*2350+282C>T) c.2826C>T (p.Ser942=) c.2010C>T (p.Ser670=) c.1917C>T (p.Ser639=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782817G>C | CA390170058 | ZFYVE26 | c.4335C>G (p.Ser1445Arg) n.4472C>G c.*2350+282C>G (n.*2350+282C>G) c.2826C>G (p.Ser942Arg) c.2010C>G (p.Ser670Arg) c.1917C>G (p.Ser639Arg) | |
| 14 | g.67782817G= | CA2144027638 | ZFYVE26 | c.4335C= (p.Ser1445=) n.4472C= c.*2350+282C= (n.*2350+282C=) c.2826C= (p.Ser942=) c.2010C= (p.Ser670=) c.1917C= (p.Ser639=) | |
| 14 | g.67782817G>T | CA390170056 | ZFYVE26 | c.4335C>A (p.Ser1445Arg) n.4472C>A c.*2350+282C>A (n.*2350+282C>A) c.2826C>A (p.Ser942Arg) c.2010C>A (p.Ser670Arg) c.1917C>A (p.Ser639Arg) | gnomAD v4 COSMIC |
| 14 | g.67782818C>A | CA390170060 | ZFYVE26 | c.4334G>T (p.Ser1445Ile) n.4471G>T c.*2350+281G>T (n.*2350+281G>T) c.2825G>T (p.Ser942Ile) c.2009G>T (p.Ser670Ile) c.1916G>T (p.Ser639Ile) | |
| 14 | g.67782818C>G | CA390170061 | ZFYVE26 | c.4334G>C (p.Ser1445Thr) n.4471G>C c.*2350+281G>C (n.*2350+281G>C) c.2825G>C (p.Ser942Thr) c.2009G>C (p.Ser670Thr) c.1916G>C (p.Ser639Thr) | |
| 14 | g.67782818C>T | CA390170062 | ZFYVE26 | c.4334G>A (p.Ser1445Asn) n.4471G>A c.*2350+281G>A (n.*2350+281G>A) c.2825G>A (p.Ser942Asn) c.2009G>A (p.Ser670Asn) c.1916G>A (p.Ser639Asn) | |
| 14 | g.67782819T>A | CA390170065 | ZFYVE26 | c.4333A>T (p.Ser1445Cys) n.4470A>T c.*2350+280A>T (n.*2350+280A>T) c.2824A>T (p.Ser942Cys) c.2008A>T (p.Ser670Cys) c.1915A>T (p.Ser639Cys) | |
| 14 | g.67782819T>C | CA390170067 | ZFYVE26 | c.4333A>G (p.Ser1445Gly) n.4470A>G c.*2350+280A>G (n.*2350+280A>G) c.2824A>G (p.Ser942Gly) c.2008A>G (p.Ser670Gly) c.1915A>G (p.Ser639Gly) | |
| 14 | g.67782819T>G | CA390170069 | ZFYVE26 | c.4333A>C (p.Ser1445Arg) n.4470A>C c.*2350+280A>C (n.*2350+280A>C) c.2824A>C (p.Ser942Arg) c.2008A>C (p.Ser670Arg) c.1915A>C (p.Ser639Arg) | |
| 14 | g.67782820G>A | CA486970516 | ZFYVE26 | c.4332C>T (p.Ser1444=) n.4469C>T c.*2350+279C>T (n.*2350+279C>T) c.2823C>T (p.Ser941=) c.2007C>T (p.Ser669=) c.1914C>T (p.Ser638=) | |
| 14 | g.67782820G>C | CA390170071 | ZFYVE26 | c.4332C>G (p.Ser1444Arg) n.4469C>G c.*2350+279C>G (n.*2350+279C>G) c.2823C>G (p.Ser941Arg) c.2007C>G (p.Ser669Arg) c.1914C>G (p.Ser638Arg) | |
| 14 | g.67782820G>T | CA390170073 | ZFYVE26 | c.4332C>A (p.Ser1444Arg) n.4469C>A c.*2350+279C>A (n.*2350+279C>A) c.2823C>A (p.Ser941Arg) c.2007C>A (p.Ser669Arg) c.1914C>A (p.Ser638Arg) | |
| 14 | g.67782821C>A | CA390170075 | ZFYVE26 | c.4331G>T (p.Ser1444Ile) n.4468G>T c.*2350+278G>T (n.*2350+278G>T) c.2822G>T (p.Ser941Ile) c.2006G>T (p.Ser669Ile) c.1913G>T (p.Ser638Ile) | |
| 14 | g.67782821C>G | CA390170077 | ZFYVE26 | c.4331G>C (p.Ser1444Thr) n.4468G>C c.*2350+278G>C (n.*2350+278G>C) c.2822G>C (p.Ser941Thr) c.2006G>C (p.Ser669Thr) c.1913G>C (p.Ser638Thr) | |
| 14 | g.67782821C>T | CA390170079 | ZFYVE26 | c.4331G>A (p.Ser1444Asn) n.4468G>A c.*2350+278G>A (n.*2350+278G>A) c.2822G>A (p.Ser941Asn) c.2006G>A (p.Ser669Asn) c.1913G>A (p.Ser638Asn) | |
| 14 | g.67782822T>A | CA390170085 | ZFYVE26 | c.4330A>T (p.Ser1444Cys) n.4467A>T c.*2350+277A>T (n.*2350+277A>T) c.2821A>T (p.Ser941Cys) c.2005A>T (p.Ser669Cys) c.1912A>T (p.Ser638Cys) | COSMIC |
| 14 | g.67782822T>C | CA390170083 | ZFYVE26 | c.4330A>G (p.Ser1444Gly) n.4467A>G c.*2350+277A>G (n.*2350+277A>G) c.2821A>G (p.Ser941Gly) c.2005A>G (p.Ser669Gly) c.1912A>G (p.Ser638Gly) | |
| 14 | g.67782822T>G | CA390170081 | ZFYVE26 | c.4330A>C (p.Ser1444Arg) n.4467A>C c.*2350+277A>C (n.*2350+277A>C) c.2821A>C (p.Ser941Arg) c.2005A>C (p.Ser669Arg) c.1912A>C (p.Ser638Arg) | |
| 14 | g.67782823C>A | CA390170087 | ZFYVE26 | c.4329G>T (p.Leu1443Phe) n.4466G>T c.*2350+276G>T (n.*2350+276G>T) c.2820G>T (p.Leu940Phe) c.2004G>T (p.Leu668Phe) c.1911G>T (p.Leu637Phe) | gnomAD v4 |
| 14 | g.67782823C= | CA2144027639 | ZFYVE26 | c.4329G= (p.Leu1443=) n.4466G= c.*2350+276G= (n.*2350+276G=) c.2820G= (p.Leu940=) c.2004G= (p.Leu668=) c.1911G= (p.Leu637=) | |
| 14 | g.67782823C>G | CA390170089 | ZFYVE26 | c.4329G>C (p.Leu1443Phe) n.4466G>C c.*2350+276G>C (n.*2350+276G>C) c.2820G>C (p.Leu940Phe) c.2004G>C (p.Leu668Phe) c.1911G>C (p.Leu637Phe) | |
| 14 | g.67782823C>T | CA486970519 | ZFYVE26 | c.4329G>A (p.Leu1443=) n.4466G>A c.*2350+276G>A (n.*2350+276G>A) c.2820G>A (p.Leu940=) c.2004G>A (p.Leu668=) c.1911G>A (p.Leu637=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.67782824A>C | CA390170091 | ZFYVE26 | c.4328T>G (p.Leu1443Trp) n.4465T>G c.*2350+275T>G (n.*2350+275T>G) c.2819T>G (p.Leu940Trp) c.2003T>G (p.Leu668Trp) c.1910T>G (p.Leu637Trp) | |
| 14 | g.67782824A>G | CA390170092 | ZFYVE26 | c.4328T>C (p.Leu1443Ser) n.4465T>C c.*2350+275T>C (n.*2350+275T>C) c.2819T>C (p.Leu940Ser) c.2003T>C (p.Leu668Ser) c.1910T>C (p.Leu637Ser) | |
| 14 | g.67782824A>T | CA390170094 | ZFYVE26 | c.4328T>A (p.Leu1443Ter) n.4465T>A c.*2350+275T>A (n.*2350+275T>A) c.2819T>A (p.Leu940Ter) c.2003T>A (p.Leu668Ter) c.1910T>A (p.Leu637Ter) | |
| 14 | g.67782825A>C | CA390170095 | ZFYVE26 | c.4327T>G (p.Leu1443Val) n.4464T>G c.*2350+274T>G (n.*2350+274T>G) c.2818T>G (p.Leu940Val) c.2002T>G (p.Leu668Val) c.1909T>G (p.Leu637Val) | |
| 14 | g.67782825A>G | CA486970522 | ZFYVE26 | c.4327T>C (p.Leu1443=) n.4464T>C c.*2350+274T>C (n.*2350+274T>C) c.2818T>C (p.Leu940=) c.2002T>C (p.Leu668=) c.1909T>C (p.Leu637=) | |
| 14 | g.67782825A>T | CA390170096 | ZFYVE26 | c.4327T>A (p.Leu1443Met) n.4464T>A c.*2350+274T>A (n.*2350+274T>A) c.2818T>A (p.Leu940Met) c.2002T>A (p.Leu668Met) c.1909T>A (p.Leu637Met) | |
| 14 | g.67782826A>C | CA390170099 | ZFYVE26 | c.4326T>G (p.Asp1442Glu) n.4463T>G c.*2350+273T>G (n.*2350+273T>G) c.2817T>G (p.Asp939Glu) c.2001T>G (p.Asp667Glu) c.1908T>G (p.Asp636Glu) | |
| 14 | g.67782826A>G | CA486970526 | ZFYVE26 | c.4326T>C (p.Asp1442=) n.4463T>C c.*2350+273T>C (n.*2350+273T>C) c.2817T>C (p.Asp939=) c.2001T>C (p.Asp667=) c.1908T>C (p.Asp636=) | |
| 14 | g.67782826A>T | CA390170101 | ZFYVE26 | c.4326T>A (p.Asp1442Glu) n.4463T>A c.*2350+273T>A (n.*2350+273T>A) c.2817T>A (p.Asp939Glu) c.2001T>A (p.Asp667Glu) c.1908T>A (p.Asp636Glu) | |
| 14 | g.67782827T>A | CA390170103 | ZFYVE26 | c.4325A>T (p.Asp1442Val) n.4462A>T c.*2350+272A>T (n.*2350+272A>T) c.2816A>T (p.Asp939Val) c.2000A>T (p.Asp667Val) c.1907A>T (p.Asp636Val) | |
| 14 | g.67782827T>C | CA390170104 | ZFYVE26 | c.4325A>G (p.Asp1442Gly) n.4462A>G c.*2350+272A>G (n.*2350+272A>G) c.2816A>G (p.Asp939Gly) c.2000A>G (p.Asp667Gly) c.1907A>G (p.Asp636Gly) | |
| 14 | g.67782827T>G | CA390170106 | ZFYVE26 | c.4325A>C (p.Asp1442Ala) n.4462A>C c.*2350+272A>C (n.*2350+272A>C) c.2816A>C (p.Asp939Ala) c.2000A>C (p.Asp667Ala) c.1907A>C (p.Asp636Ala) | |
| 14 | g.67782828C>A | CA390170110 | ZFYVE26 | c.4324G>T (p.Asp1442Tyr) n.4461G>T c.*2350+271G>T (n.*2350+271G>T) c.2815G>T (p.Asp939Tyr) c.1999G>T (p.Asp667Tyr) c.1906G>T (p.Asp636Tyr) | |
| 14 | g.67782828C= | CA2144027640 | ZFYVE26 | c.4324G= (p.Asp1442=) n.4461G= c.*2350+271G= (n.*2350+271G=) c.2815G= (p.Asp939=) c.1999G= (p.Asp667=) c.1906G= (p.Asp636=) | |
| 14 | g.67782828C>G | CA390170109 | ZFYVE26 | c.4324G>C (p.Asp1442His) n.4461G>C c.*2350+271G>C (n.*2350+271G>C) c.2815G>C (p.Asp939His) c.1999G>C (p.Asp667His) c.1906G>C (p.Asp636His) | |
| 14 | g.67782828C>T | CA337036 | ZFYVE26 | c.4324G>A (p.Asp1442Asn) n.4461G>A c.*2350+271G>A (n.*2350+271G>A) c.2815G>A (p.Asp939Asn) c.1999G>A (p.Asp667Asn) c.1906G>A (p.Asp636Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782829G>A | CA7239796 | ZFYVE26 | c.4323C>T (p.Asp1441=) n.4460C>T c.*2350+270C>T (n.*2350+270C>T) c.2814C>T (p.Asp938=) c.1998C>T (p.Asp666=) c.1905C>T (p.Asp635=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782829G>C | CA390170112 | ZFYVE26 | c.4323C>G (p.Asp1441Glu) n.4460C>G c.*2350+270C>G (n.*2350+270C>G) c.2814C>G (p.Asp938Glu) c.1998C>G (p.Asp666Glu) c.1905C>G (p.Asp635Glu) | |
| 14 | g.67782829G= | CA2144027641 | ZFYVE26 | c.4323C= (p.Asp1441=) n.4460C= c.*2350+270C= (n.*2350+270C=) c.2814C= (p.Asp938=) c.1998C= (p.Asp666=) c.1905C= (p.Asp635=) | |
| 14 | g.67782829G>T | CA390170114 | ZFYVE26 | c.4323C>A (p.Asp1441Glu) n.4460C>A c.*2350+270C>A (n.*2350+270C>A) c.2814C>A (p.Asp938Glu) c.1998C>A (p.Asp666Glu) c.1905C>A (p.Asp635Glu) | ClinVar dbSNP gnomAD v4 |
| 14 | g.67782830T>A | CA390170116 | ZFYVE26 | c.4322A>T (p.Asp1441Val) n.4459A>T c.*2350+269A>T (n.*2350+269A>T) c.2813A>T (p.Asp938Val) c.1997A>T (p.Asp666Val) c.1904A>T (p.Asp635Val) | |
| 14 | g.67782830T>C | CA390170118 | ZFYVE26 | c.4322A>G (p.Asp1441Gly) n.4459A>G c.*2350+269A>G (n.*2350+269A>G) c.2813A>G (p.Asp938Gly) c.1997A>G (p.Asp666Gly) c.1904A>G (p.Asp635Gly) | COSMIC |
| 14 | g.67782830T>G | CA390170120 | ZFYVE26 | c.4322A>C (p.Asp1441Ala) n.4459A>C c.*2350+269A>C (n.*2350+269A>C) c.2813A>C (p.Asp938Ala) c.1997A>C (p.Asp666Ala) c.1904A>C (p.Asp635Ala) | |
| 14 | g.67782831C>A | CA390170122 | ZFYVE26 | c.4321G>T (p.Asp1441Tyr) n.4458G>T c.*2350+268G>T (n.*2350+268G>T) c.2812G>T (p.Asp938Tyr) c.1996G>T (p.Asp666Tyr) c.1903G>T (p.Asp635Tyr) | |
| 14 | g.67782831C>G | CA390170123 | ZFYVE26 | c.4321G>C (p.Asp1441His) n.4458G>C c.*2350+268G>C (n.*2350+268G>C) c.2812G>C (p.Asp938His) c.1996G>C (p.Asp666His) c.1903G>C (p.Asp635His) | |
| 14 | g.67782831C>T | CA390170125 | ZFYVE26 | c.4321G>A (p.Asp1441Asn) n.4458G>A c.*2350+268G>A (n.*2350+268G>A) c.2812G>A (p.Asp938Asn) c.1996G>A (p.Asp666Asn) c.1903G>A (p.Asp635Asn) | |
| 14 | g.67782832C>A | CA486970530 | ZFYVE26 | c.4320G>T (p.Val1440=) n.4457G>T c.*2350+267G>T (n.*2350+267G>T) c.2811G>T (p.Val937=) c.1995G>T (p.Val665=) c.1902G>T (p.Val634=) | |
| 14 | g.67782832C>G | CA486970531 | ZFYVE26 | c.4320G>C (p.Val1440=) n.4457G>C c.*2350+267G>C (n.*2350+267G>C) c.2811G>C (p.Val937=) c.1995G>C (p.Val665=) c.1902G>C (p.Val634=) | |
| 14 | g.67782832C>T | CA486970532 | ZFYVE26 | c.4320G>A (p.Val1440=) n.4457G>A c.*2350+267G>A (n.*2350+267G>A) c.2811G>A (p.Val937=) c.1995G>A (p.Val665=) c.1902G>A (p.Val634=) | gnomAD v4 |
| 14 | g.67782833A>C | CA390170128 | ZFYVE26 | c.4319T>G (p.Val1440Gly) n.4456T>G c.*2350+266T>G (n.*2350+266T>G) c.2810T>G (p.Val937Gly) c.1994T>G (p.Val665Gly) c.1901T>G (p.Val634Gly) | |
| 14 | g.67782833A>G | CA390170129 | ZFYVE26 | c.4319T>C (p.Val1440Ala) n.4456T>C c.*2350+266T>C (n.*2350+266T>C) c.2810T>C (p.Val937Ala) c.1994T>C (p.Val665Ala) c.1901T>C (p.Val634Ala) | |
| 14 | g.67782833A>T | CA390170131 | ZFYVE26 | c.4319T>A (p.Val1440Glu) n.4456T>A c.*2350+266T>A (n.*2350+266T>A) c.2810T>A (p.Val937Glu) c.1994T>A (p.Val665Glu) c.1901T>A (p.Val634Glu) | |
| 14 | g.67782834C>A | CA390170135 | ZFYVE26 | c.4318G>T (p.Val1440Leu) n.4455G>T c.*2350+265G>T (n.*2350+265G>T) c.2809G>T (p.Val937Leu) c.1993G>T (p.Val665Leu) c.1900G>T (p.Val634Leu) | |
| 14 | g.67782834C>G | CA390170137 | ZFYVE26 | c.4318G>C (p.Val1440Leu) n.4455G>C c.*2350+265G>C (n.*2350+265G>C) c.2809G>C (p.Val937Leu) c.1993G>C (p.Val665Leu) c.1900G>C (p.Val634Leu) | |
| 14 | g.67782834C>T | CA390170133 | ZFYVE26 | c.4318G>A (p.Val1440Met) n.4455G>A c.*2350+265G>A (n.*2350+265G>A) c.2809G>A (p.Val937Met) c.1993G>A (p.Val665Met) c.1900G>A (p.Val634Met) | |
| 14 | g.67782835A= | CA2144027642 | ZFYVE26 | c.4317T= (p.Asp1439=) n.4454T= c.*2350+264T= (n.*2350+264T=) c.2808T= (p.Asp936=) c.1992T= (p.Asp664=) c.1899T= (p.Asp633=) | |
| 14 | g.67782835A>C | CA390170138 | ZFYVE26 | c.4317T>G (p.Asp1439Glu) n.4454T>G c.*2350+264T>G (n.*2350+264T>G) c.2808T>G (p.Asp936Glu) c.1992T>G (p.Asp664Glu) c.1899T>G (p.Asp633Glu) | |
| 14 | g.67782835A>G | CA486970537 | ZFYVE26 | c.4317T>C (p.Asp1439=) n.4454T>C c.*2350+264T>C (n.*2350+264T>C) c.2808T>C (p.Asp936=) c.1992T>C (p.Asp664=) c.1899T>C (p.Asp633=) | dbSNP gnomAD v4 |
| 14 | g.67782835A>T | CA390170140 | ZFYVE26 | c.4317T>A (p.Asp1439Glu) n.4454T>A c.*2350+264T>A (n.*2350+264T>A) c.2808T>A (p.Asp936Glu) c.1992T>A (p.Asp664Glu) c.1899T>A (p.Asp633Glu) | |
| 14 | g.67782836T>A | CA390170142 | ZFYVE26 | c.4316A>T (p.Asp1439Val) n.4453A>T c.*2350+263A>T (n.*2350+263A>T) c.2807A>T (p.Asp936Val) c.1991A>T (p.Asp664Val) c.1898A>T (p.Asp633Val) | |
| 14 | g.67782836T>C | CA390170144 | ZFYVE26 | c.4316A>G (p.Asp1439Gly) n.4453A>G c.*2350+263A>G (n.*2350+263A>G) c.2807A>G (p.Asp936Gly) c.1991A>G (p.Asp664Gly) c.1898A>G (p.Asp633Gly) | ClinVar dbSNP |
| 14 | g.67782836T>G | CA390170146 | ZFYVE26 | c.4316A>C (p.Asp1439Ala) n.4453A>C c.*2350+263A>C (n.*2350+263A>C) c.2807A>C (p.Asp936Ala) c.1991A>C (p.Asp664Ala) c.1898A>C (p.Asp633Ala) | |
| 14 | g.67782836T= | CA2144027643 | ZFYVE26 | c.4316A= (p.Asp1439=) n.4453A= c.*2350+263A= (n.*2350+263A=) c.2807A= (p.Asp936=) c.1991A= (p.Asp664=) c.1898A= (p.Asp633=) | |
| 14 | g.67782837C>A | CA390170152 | ZFYVE26 | c.4315G>T (p.Asp1439Tyr) n.4452G>T c.*2350+262G>T (n.*2350+262G>T) c.2806G>T (p.Asp936Tyr) c.1990G>T (p.Asp664Tyr) c.1897G>T (p.Asp633Tyr) | |
| 14 | g.67782837C>G | CA390170148 | ZFYVE26 | c.4315G>C (p.Asp1439His) n.4452G>C c.*2350+262G>C (n.*2350+262G>C) c.2806G>C (p.Asp936His) c.1990G>C (p.Asp664His) c.1897G>C (p.Asp633His) | |
| 14 | g.67782837C>T | CA390170150 | ZFYVE26 | c.4315G>A (p.Asp1439Asn) n.4452G>A c.*2350+262G>A (n.*2350+262G>A) c.2806G>A (p.Asp936Asn) c.1990G>A (p.Asp664Asn) c.1897G>A (p.Asp633Asn) | |
| 14 | g.67782838T>A | CA486970539 | ZFYVE26 | c.4314A>T (p.Arg1438=) n.4451A>T c.*2350+261A>T (n.*2350+261A>T) c.2805A>T (p.Arg935=) c.1989A>T (p.Arg663=) c.1896A>T (p.Arg632=) | |
| 14 | g.67782838T>C | CA486970540 | ZFYVE26 | c.4314A>G (p.Arg1438=) n.4451A>G c.*2350+261A>G (n.*2350+261A>G) c.2805A>G (p.Arg935=) c.1989A>G (p.Arg663=) c.1896A>G (p.Arg632=) | |
| 14 | g.67782838T>G | CA486970541 | ZFYVE26 | c.4314A>C (p.Arg1438=) n.4451A>C c.*2350+261A>C (n.*2350+261A>C) c.2805A>C (p.Arg935=) c.1989A>C (p.Arg663=) c.1896A>C (p.Arg632=) | |
| 14 | g.67782839C>A | CA390170153 | ZFYVE26 | c.4313G>T (p.Arg1438Leu) n.4450G>T c.*2350+260G>T (n.*2350+260G>T) c.2804G>T (p.Arg935Leu) c.1988G>T (p.Arg663Leu) c.1895G>T (p.Arg632Leu) | |
| 14 | g.67782839C= | CA2144027644 | ZFYVE26 | c.4313G= (p.Arg1438=) n.4450G= c.*2350+260G= (n.*2350+260G=) c.2804G= (p.Arg935=) c.1988G= (p.Arg663=) c.1895G= (p.Arg632=) | |
| 14 | g.67782839C>G | CA390170155 | ZFYVE26 | c.4313G>C (p.Arg1438Pro) n.4450G>C c.*2350+260G>C (n.*2350+260G>C) c.2804G>C (p.Arg935Pro) c.1988G>C (p.Arg663Pro) c.1895G>C (p.Arg632Pro) | |
| 14 | g.67782839C>T | CA7239797 | ZFYVE26 | c.4313G>A (p.Arg1438Gln) n.4450G>A c.*2350+260G>A (n.*2350+260G>A) c.2804G>A (p.Arg935Gln) c.1988G>A (p.Arg663Gln) c.1895G>A (p.Arg632Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.67782840G>A | CA114476 | ZFYVE26 | c.4312C>T (p.Arg1438Ter) n.4449C>T c.*2350+259C>T (n.*2350+259C>T) c.2803C>T (p.Arg935Ter) c.1987C>T (p.Arg663Ter) c.1894C>T (p.Arg632Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782840G>C | CA390170159 | ZFYVE26 | c.4312C>G (p.Arg1438Gly) n.4449C>G c.*2350+259C>G (n.*2350+259C>G) c.2803C>G (p.Arg935Gly) c.1987C>G (p.Arg663Gly) c.1894C>G (p.Arg632Gly) | |
| 14 | g.67782840G= | CA2144027645 | ZFYVE26 | c.4312C= (p.Arg1438=) n.4449C= c.*2350+259C= (n.*2350+259C=) c.2803C= (p.Arg935=) c.1987C= (p.Arg663=) c.1894C= (p.Arg632=) | |
| 14 | g.67782840G>T | CA486970543 | ZFYVE26 | c.4312C>A (p.Arg1438=) n.4449C>A c.*2350+259C>A (n.*2350+259C>A) c.2803C>A (p.Arg935=) c.1987C>A (p.Arg663=) c.1894C>A (p.Arg632=) | ClinVar |