| Mutation ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000368885 |
| Start |
110893064:110893064(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.863A>G |
| AA Mutation |
p.Gln288Arg(p.Q288R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000368885 |
| Start |
110875148:110875148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.43G>T |
| AA Mutation |
p.Glu15Ter(p.E15*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AMD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368885 |
| Start |
110892330:110892330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.502C>T |
| AA Mutation |
p.Arg168Trp(p.R168W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368885 |
| Start |
110888948:110888948(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779004856
|
| CDS Mutation |
c.289C>A |
| AA Mutation |
p.Leu97Ile(p.L97I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368885 |
| Start |
110892438:110892438(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.610A>G |
| AA Mutation |
p.Thr204Ala(p.T204A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368885 |
| Start |
110892805:110892805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.686C>T |
| AA Mutation |
p.Ser229Leu(p.S229L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|