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 |
|---|---|---|---|---|---|
| 1 | g.159886571_159886645dup | CA1008314391 | CFAP45 | c.633_707dup (p.Arg236_Gln237insLeuGluLysGlnGlnIleGlnLysGluLeuAspThrGluGluLysArgLeuAspGlnMetMetGluValGluArg) c.378_452dup (p.Arg151_Gln152insLeuGluLysGlnGlnIleGlnLysGluLeuAspThrGluGluLysArgLeuAspGlnMetMetGluValGluArg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.159886639C>A | CA343219969 | CFAP45 | c.639G>T (p.Glu213Asp) c.384G>T (p.Glu128Asp) | |
| 1 | g.159886639C= | CA1139942483 | CFAP45 | c.639G= (p.Glu213=) c.384G= (p.Glu128=) | |
| 1 | g.159886639C>G | CA343219968 | CFAP45 | c.639G>C (p.Glu213Asp) c.384G>C (p.Glu128Asp) | |
| 1 | g.159886639C>T | CA1191086 | CFAP45 | c.639G>A (p.Glu213=) c.384G>A (p.Glu128=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159886640T>A | CA343219970 | CFAP45 | c.638A>T (p.Glu213Val) c.383A>T (p.Glu128Val) | |
| 1 | g.159886640T>C | CA1191087 | CFAP45 | c.638A>G (p.Glu213Gly) c.383A>G (p.Glu128Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.159886640T>G | CA343219971 | CFAP45 | c.638A>C (p.Glu213Ala) c.383A>C (p.Glu128Ala) | |
| 1 | g.159886640T= | CA1202094339 | CFAP45 | c.638A= (p.Glu213=) c.383A= (p.Glu128=) | |
| 1 | g.159886641C>A | CA343219972 | CFAP45 | c.637G>T (p.Glu213Ter) c.382G>T (p.Glu128Ter) | |
| 1 | g.159886641C>G | CA343219973 | CFAP45 | c.637G>C (p.Glu213Gln) c.382G>C (p.Glu128Gln) | |
| 1 | g.159886641C>T | CA343219974 | CFAP45 | c.637G>A (p.Glu213Lys) c.382G>A (p.Glu128Lys) | COSMIC |
| 1 | g.159886642C>A | CA421350677 | CFAP45 | c.636G>T (p.Leu212=) c.381G>T (p.Leu127=) | |
| 1 | g.159886642C>G | CA421350679 | CFAP45 | c.636G>C (p.Leu212=) c.381G>C (p.Leu127=) | |
| 1 | g.159886642C>T | CA421350678 | CFAP45 | c.636G>A (p.Leu212=) c.381G>A (p.Leu127=) | |
| 1 | g.159886643A>C | CA343219975 | CFAP45 | c.635T>G (p.Leu212Arg) c.380T>G (p.Leu127Arg) | |
| 1 | g.159886643A>G | CA343219976 | CFAP45 | c.635T>C (p.Leu212Pro) c.380T>C (p.Leu127Pro) | |
| 1 | g.159886643A>T | CA343219977 | CFAP45 | c.635T>A (p.Leu212Gln) c.380T>A (p.Leu127Gln) | |
| 1 | g.159886644G>A | CA421350680 | CFAP45 | c.634C>T (p.Leu212=) c.379C>T (p.Leu127=) | |
| 1 | g.159886644G>C | CA343219978 | CFAP45 | c.634C>G (p.Leu212Val) c.379C>G (p.Leu127Val) | |
| 1 | g.159886644G>T | CA343219979 | CFAP45 | c.634C>A (p.Leu212Met) c.379C>A (p.Leu127Met) | |
| 1 | g.159886645G>A | CA421350682 | CFAP45 | c.633C>T (p.Ile211=) c.378C>T (p.Ile126=) | |
| 1 | g.159886645G>C | CA343219980 | CFAP45 | c.633C>G (p.Ile211Met) c.378C>G (p.Ile126Met) | |
| 1 | g.159886645G>T | CA421350683 | CFAP45 | c.633C>A (p.Ile211=) c.378C>A (p.Ile126=) | |
| 1 | g.159886646A>C | CA343219981 | CFAP45 | c.632T>G (p.Ile211Ser) c.377T>G (p.Ile126Ser) | |
| 1 | g.159886646A>G | CA343219982 | CFAP45 | c.632T>C (p.Ile211Thr) c.377T>C (p.Ile126Thr) | gnomAD v4 |
| 1 | g.159886646A>T | CA343219983 | CFAP45 | c.632T>A (p.Ile211Asn) c.377T>A (p.Ile126Asn) | |
| 1 | g.159886647T>A | CA343219985 | CFAP45 | c.631A>T (p.Ile211Phe) c.376A>T (p.Ile126Phe) | |
| 1 | g.159886647T>C | CA343219986 | CFAP45 | c.631A>G (p.Ile211Val) c.376A>G (p.Ile126Val) | dbSNP gnomAD v2 |
| 1 | g.159886647T>G | CA343219984 | CFAP45 | c.631A>C (p.Ile211Leu) c.376A>C (p.Ile126Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.159886647T= | CA1202094340 | CFAP45 | c.631A= (p.Ile211=) c.376A= (p.Ile126=) | |
| 1 | g.159886649del | CA2648611173 | CFAP45 | c.631del (p.Ile211SerfsTer21) c.376del (p.Ile126SerfsTer21) c.376del (p.Ile126SerfsTer?) | gnomAD v4 |
| 1 | g.159886648T>A | CA343219987 | CFAP45 | c.630A>T (p.Gln210His) c.375A>T (p.Gln125His) | |
| 1 | g.159886648T>C | CA421350686 | CFAP45 | c.630A>G (p.Gln210=) c.375A>G (p.Gln125=) | |
| 1 | g.159886648T>G | CA343219988 | CFAP45 | c.630A>C (p.Gln210His) c.375A>C (p.Gln125His) | |
| 1 | g.159886649T>A | CA343219989 | CFAP45 | c.629A>T (p.Gln210Leu) c.374A>T (p.Gln125Leu) | |
| 1 | g.159886649T>C | CA343219990 | CFAP45 | c.629A>G (p.Gln210Arg) c.374A>G (p.Gln125Arg) | |
| 1 | g.159886649T>G | CA343219991 | CFAP45 | c.629A>C (p.Gln210Pro) c.374A>C (p.Gln125Pro) | |
| 1 | g.159886650G>A | CA343219992 | CFAP45 | c.628C>T (p.Gln210Ter) c.373C>T (p.Gln125Ter) | |
| 1 | g.159886650G>C | CA343219993 | CFAP45 | c.628C>G (p.Gln210Glu) c.373C>G (p.Gln125Glu) | |
| 1 | g.159886650G>T | CA343219994 | CFAP45 | c.628C>A (p.Gln210Lys) c.373C>A (p.Gln125Lys) | |
| 1 | g.159886651G>A | CA421350689 | CFAP45 | c.627C>T (p.Ala209=) c.372C>T (p.Ala124=) | |
| 1 | g.159886651G>C | CA421350690 | CFAP45 | c.627C>G (p.Ala209=) c.372C>G (p.Ala124=) | |
| 1 | g.159886651G>T | CA421350688 | CFAP45 | c.627C>A (p.Ala209=) c.372C>A (p.Ala124=) | |
| 1 | g.159886652G>A | CA343219995 | CFAP45 | c.626C>T (p.Ala209Val) c.371C>T (p.Ala124Val) | |
| 1 | g.159886652G>C | CA343219996 | CFAP45 | c.626C>G (p.Ala209Gly) c.371C>G (p.Ala124Gly) | |
| 1 | g.159886652G>T | CA343219997 | CFAP45 | c.626C>A (p.Ala209Asp) c.371C>A (p.Ala124Asp) | |
| 1 | g.159886653C>A | CA343219998 | CFAP45 | c.625G>T (p.Ala209Ser) c.370G>T (p.Ala124Ser) | |
| 1 | g.159886653C>G | CA343219999 | CFAP45 | c.625G>C (p.Ala209Pro) c.370G>C (p.Ala124Pro) | |
| 1 | g.159886653C>T | CA343220000 | CFAP45 | c.625G>A (p.Ala209Thr) c.370G>A (p.Ala124Thr) |