| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371263 |
| Start |
57342788:57342789(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1019_1020insATGTC |
| AA Mutation |
p.Asp340GlufsTer6(p.D340Efs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000371263 |
| Start |
57339027:57339027(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.882+1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SPO11
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371263 |
| Start |
57335452:57335452(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs28368082
|
| CDS Mutation |
c.631C>T |
| AA Mutation |
p.Arg211Trp(p.R211W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371263 |
| Start |
57331897:57331897(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.196G>T |
| AA Mutation |
p.Glu66Ter(p.E66*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|