| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000309983 |
| Start |
18143662:18143662(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.300delT |
| AA Mutation |
p.Phe100LeufsTer49(p.F100Lfs*49) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000309983 |
| Start |
18130698:18130698(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.708delT |
| AA Mutation |
p.Phe236LeufsTer12(p.F236Lfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TPMT
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309983 |
| Start |
18149039:18149039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.89A>G |
| AA Mutation |
p.Gln30Arg(p.Q30R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309983 |
| Start |
18139672:18139672(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.412C>A |
| AA Mutation |
p.Leu138Ile(p.L138I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309983 |
| Start |
18132147:18132147(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs79901429
|
| CDS Mutation |
c.611T>C |
| AA Mutation |
p.Ile204Thr(p.I204T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|