| Mutation ID |
21 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000263791 |
| Start |
39949270:39949270(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.513+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000263791 |
| Start |
39967760:39967762(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1436_1438delGAG |
| AA Mutation |
p.Gly479del(p.G479del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EIF2AK4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263791 |
| Start |
39967719:39967719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752398827
|
| CDS Mutation |
c.1393C>T |
| AA Mutation |
p.Arg465Cys(p.R465C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263791 |
| Start |
40019096:40019096(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4069C>T |
| AA Mutation |
p.Pro1357Ser(p.P1357S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263791 |
| Start |
39934232:39934232(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.37G>A |
| AA Mutation |
p.Asp13Asn(p.D13N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263791 |
| Start |
39973659:39973659(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1728T>A |
| AA Mutation |
p.Phe576Leu(p.F576L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263791 |
| Start |
40020911:40020911(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4186T>C |
| AA Mutation |
p.Ser1396Pro(p.S1396P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263791 |
| Start |
39973717:39973717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1786C>A |
| AA Mutation |
p.Leu596Ile(p.L596I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263791 |
| Start |
40025988:40025988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200983505
|
| CDS Mutation |
c.4401C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|