| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269195 |
| Start |
35654777:35654780(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.118_121delAGAG |
| AA Mutation |
p.Arg40AspfsTer8(p.R40Dfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000269195 |
| Start |
35709741:35709741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1651C>T |
| AA Mutation |
p.Arg551Ter(p.R551*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GALNT1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269195 |
| Start |
35691187:35691187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1154C>A |
| AA Mutation |
p.Ser385Tyr(p.S385Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000269195 |
| Start |
35663705:35663705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.217G>T |
| AA Mutation |
p.Glu73Ter(p.E73*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|