| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000398637 |
| Start |
46204542:46204542(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.695delT |
| AA Mutation |
p.Phe232SerfsTer2(p.F232Sfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000398637 |
| Start |
46207603:46207603(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.407delA |
| AA Mutation |
p.Lys136SerfsTer14(p.K136Sfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC38A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398637 |
| Start |
46239704:46239704(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs75571325
|
| CDS Mutation |
c.97G>A |
| AA Mutation |
p.Glu33Lys(p.E33K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398637 |
| Start |
46207573:46207573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.437G>A |
| AA Mutation |
p.Gly146Glu(p.G146E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398637 |
| Start |
46188992:46188992(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773969671
|
| CDS Mutation |
c.1442C>T |
| AA Mutation |
p.Ser481Leu(p.S481L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000398637 |
| Start |
46209060:46209060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.382G>T |
| AA Mutation |
p.Glu128Ter(p.E128*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|