| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000550536 |
| Start |
69795246:69795246(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.842delA |
| AA Mutation |
p.Lys281ArgfsTer13(p.K281Rfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000550536 |
| Start |
69800333:69800334(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1061_1062insCTCT |
| AA Mutation |
p.Glu355SerfsTer2(p.E355Sfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RAB3IP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000550536 |
| Start |
69812979:69812979(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1294A>C |
| AA Mutation |
p.Asn432His(p.N432H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000550536 |
| Start |
69815441:69815441(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1426C>A |
| AA Mutation |
p.Leu476Ile(p.L476I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000550536 |
| Start |
69739861:69739861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.15G>T |
| AA Mutation |
p.Lys5Asn(p.K5N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000550536 |
| Start |
69812997:69812997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs541995446
|
| CDS Mutation |
c.1312C>T |
| AA Mutation |
p.Arg438Ter(p.R438*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|