| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344768 |
| Start |
51708192:51708192(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.673C>T |
| AA Mutation |
p.Arg225Ter(p.R225*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344768 |
| Start |
51720063:51720063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1033C>T |
| AA Mutation |
p.Gln345Ter(p.Q345*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FRMD6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344768 |
| Start |
51720148:51720148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371612348
|
| CDS Mutation |
c.1118C>T |
| AA Mutation |
p.Ala373Val(p.A373V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344768 |
| Start |
51715342:51715342(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.867T>G |
| AA Mutation |
p.Ile289Met(p.I289M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344768 |
| Start |
51727949:51727949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1789G>T |
| AA Mutation |
p.Asp597Tyr(p.D597Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344768 |
| Start |
51708107:51708107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.588C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|