| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000346049 |
| Start |
27436310:27436310(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1308delT |
| AA Mutation |
p.Phe436LeufsTer19(p.F436Lfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000346049 |
| Start |
27454261:27454262(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2709dupC |
| AA Mutation |
p.Glu904ArgfsTer23(p.E904Rfs*23) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTK2B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346049 |
| Start |
27419986:27419986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748935335
|
| CDS Mutation |
c.296C>T |
| AA Mutation |
p.Ser99Phe(p.S99F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000346049 |
| Start |
27454560:27454560(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767112239
|
| CDS Mutation |
c.2763C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|