| Mutation ID |
31 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000438793 |
| Start |
103007591:103007592(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2149_2150insTTTGACTCTCTAGT |
| AA Mutation |
p.Glu717ValfsTer2(p.E717Vfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000438793 |
| Start |
102974244:102974245(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1298dupA |
| AA Mutation |
p.Asp434GlyfsTer6(p.D434Gfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PAM
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000438793 |
| Start |
103028892:103028892(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2749G>A |
| AA Mutation |
p.Gly917Arg(p.G917R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000438793 |
| Start |
102990370:102990370(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1582T>A |
| AA Mutation |
p.Phe528Ile(p.F528I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000438793 |
| Start |
103007644:103007644(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2202T>G |
| AA Mutation |
p.Ile734Met(p.I734M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|