| Mutation ID |
60 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000321725 |
| Start |
52513891:52513892(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs563085224
|
| CDS Mutation |
c.3364dupC |
| AA Mutation |
p.Arg1122ProfsTer37(p.R1122Pfs*37) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
61 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000321725 |
| Start |
52515461:52515463(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3905_3907delCCT |
| AA Mutation |
p.Ser1302del(p.S1302del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> STAB1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321725 |
| Start |
52520876:52520876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761753155
|
| CDS Mutation |
c.5779C>T |
| AA Mutation |
p.Arg1927Cys(p.R1927C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321725 |
| Start |
52503377:52503377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.728T>C |
| AA Mutation |
p.Leu243Pro(p.L243P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321725 |
| Start |
52523244:52523244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7043C>T |
| AA Mutation |
p.Ala2348Val(p.A2348V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321725 |
| Start |
52502025:52502025(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.351G>T |
| AA Mutation |
p.Glu117Asp(p.E117D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321725 |
| Start |
52506217:52506217(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778673205
|
| CDS Mutation |
c.1797G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000321725 |
| Start |
52516103:52516103(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs761841917
|
| CDS Mutation |
c.4015delG |
| AA Mutation |
p.Val1339CysfsTer252(p.V1339Cfs*252) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|