| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366672 |
| Start |
230236698:230236698(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750040941
|
| CDS Mutation |
c.580C>T |
| AA Mutation |
p.Arg194Ter(p.R194*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000366672 |
| Start |
230236421:230236421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.541+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GALNT2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366672 |
| Start |
230236717:230236717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369808855
|
| CDS Mutation |
c.599G>A |
| AA Mutation |
p.Arg200Gln(p.R200Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366672 |
| Start |
230236684:230236684(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.566A>C |
| AA Mutation |
p.Lys189Thr(p.K189T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000366672 |
| Start |
230236420:230236420(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs537078461
|
| CDS Mutation |
c.541C>T |
| AA Mutation |
p.Pro181Ser(p.P181S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366672 |
| Start |
230250503:230250503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.952T>G |
| AA Mutation |
p.Phe318Val(p.F318V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366672 |
| Start |
230262621:230262621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754934176
|
| CDS Mutation |
c.1185C>A |
| AA Mutation |
p.Phe395Leu(p.F395L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366672 |
| Start |
230243424:230243424(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs570311189
|
| CDS Mutation |
c.726G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366672 |
| Start |
230236719:230236719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.601C>T |
| AA Mutation |
p.Arg201Ter(p.R201*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|