| Mutation ID |
11 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000380588 |
| Start |
39792096:39792097(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1045_1046insTTTTATGTT |
| AA Mutation |
p.Thr349delinsIleLeuCysSer(p.T349delinsILCS) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000380588 |
| Start |
39779227:39779228(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs530090000
|
| CDS Mutation |
c.868_870dupTGC |
| AA Mutation |
p.Cys290dup(p.C290dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IGSF5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000380588 |
| Start |
39801262:39801262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371000620
|
| CDS Mutation |
c.1129C>T |
| AA Mutation |
p.Arg377Trp(p.R377W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380588 |
| Start |
39765604:39765604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372378189
|
| CDS Mutation |
c.170G>A |
| AA Mutation |
p.Arg57His(p.R57H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000380588 |
| Start |
39779303:39779303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.932G>T |
| AA Mutation |
p.Arg311Ile(p.R311I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380588 |
| Start |
39771080:39771080(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765181728
|
| CDS Mutation |
c.583G>A |
| AA Mutation |
p.Asp195Asn(p.D195N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|