| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375433 |
| Start |
17416509:17416509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757048358
|
| CDS Mutation |
c.997C>T |
| AA Mutation |
p.Arg333Ter(p.R333*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000375433 |
| Start |
17420770:17420772(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.801_803delGAT |
| AA Mutation |
p.Met267del(p.M267del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RCC2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375433 |
| Start |
17422729:17422729(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.631C>T |
| AA Mutation |
p.Arg211Trp(p.R211W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375433 |
| Start |
17429129:17429129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.356G>A |
| AA Mutation |
p.Arg119Gln(p.R119Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375433 |
| Start |
17422833:17422833(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765416456
|
| CDS Mutation |
c.527G>A |
| AA Mutation |
p.Arg176Gln(p.R176Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|