| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000301280 |
| Start |
4428742:4428742(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1456delG |
| AA Mutation |
p.Ala486LeufsTer24(p.A486Lfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000301280 |
| Start |
4423867:4423867(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1374delC |
| AA Mutation |
p.Lys459ArgfsTer51(p.K459Rfs*51) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHAF1A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301280 |
| Start |
4409118:4409118(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775109223
|
| CDS Mutation |
c.319G>A |
| AA Mutation |
p.Glu107Lys(p.E107K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301280 |
| Start |
4432010:4432010(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2006A>G |
| AA Mutation |
p.Asp669Gly(p.D669G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301280 |
| Start |
4422575:4422575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1027C>T |
| AA Mutation |
p.Arg343Cys(p.R343C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000301280 |
| Start |
4409117:4409117(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759026569
|
| CDS Mutation |
c.318C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|