| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264870 |
| Start |
6174813:6174813(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1514delA |
| AA Mutation |
p.Lys505SerfsTer9(p.K505Sfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000264870 |
| Start |
6250809:6250809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.690+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> F13A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264870 |
| Start |
6151873:6151873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781240042
|
| CDS Mutation |
c.1985G>A |
| AA Mutation |
p.Arg662Gln(p.R662Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264870 |
| Start |
6145708:6145708(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267606787
|
| CDS Mutation |
c.2110C>T |
| AA Mutation |
p.Arg704Trp(p.R704W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264870 |
| Start |
6305421:6305421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.249C>A |
| AA Mutation |
p.Phe83Leu(p.F83L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|