| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000349752 |
| Start |
30912295:30912295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1428C>A |
| AA Mutation |
p.Cys476Ter(p.C476*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000349752 |
| Start |
30912292:30912293(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1430_1431insA |
| AA Mutation |
p.Ser478ValfsTer21(p.S478Vfs*21) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GALNT14
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349752 |
| Start |
30924789:30924789(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377585928
|
| CDS Mutation |
c.1186C>T |
| AA Mutation |
p.Arg396Cys(p.R396C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349752 |
| Start |
30924788:30924788(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146467165
|
| CDS Mutation |
c.1187G>A |
| AA Mutation |
p.Arg396His(p.R396H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349752 |
| Start |
30966231:30966231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769014379
|
| CDS Mutation |
c.371G>A |
| AA Mutation |
p.Arg124His(p.R124H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349752 |
| Start |
30912264:30912264(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1459C>A |
| AA Mutation |
p.Pro487Thr(p.P487T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349752 |
| Start |
30932076:30932076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372818470
|
| CDS Mutation |
c.1050G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000349752 |
| Start |
30912295:30912295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1428C>A |
| AA Mutation |
p.Cys476Ter(p.C476*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|