| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000548278 |
| Start |
113191628:113191628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.621C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000548278 |
| Start |
113191400:113191400(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.397delG |
| AA Mutation |
p.Asp133MetfsTer62(p.D133Mfs*62) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RITA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000548278 |
| Start |
113191602:113191602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs76765925
|
| CDS Mutation |
c.595T>C |
| AA Mutation |
p.Ser199Pro(p.S199P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000548278 |
| Start |
113191811:113191811(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.804G>T |
| AA Mutation |
p.Trp268Cys(p.W268C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000548278 |
| Start |
113191740:113191740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773378868
|
| CDS Mutation |
c.733C>T |
| AA Mutation |
p.Arg245Cys(p.R245C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|