| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000229179 |
| Start |
68709254:68709254(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.751delA |
| AA Mutation |
p.Thr251GlnfsTer20(p.T251Qfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000229179 |
| Start |
68700753:68700753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774346160
|
| CDS Mutation |
c.580C>T |
| AA Mutation |
p.Arg194Ter(p.R194*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NUP107
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229179 |
| Start |
68731673:68731673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1952T>G |
| AA Mutation |
p.Phe651Cys(p.F651C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229179 |
| Start |
68732728:68732728(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2090G>A |
| AA Mutation |
p.Arg697Lys(p.R697K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229179 |
| Start |
68709299:68709299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.791G>A |
| AA Mutation |
p.Arg264Gln(p.R264Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000229179 |
| Start |
68710041:68710041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.838G>T |
| AA Mutation |
p.Glu280Ter(p.E280*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|