| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000313243 |
| Start |
10796108:10796108(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 |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000313243 |
| Start |
10796007:10796008(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1133dupA |
| AA Mutation |
p.Asn378LysfsTer5(p.N378Kfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MAK
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313243 |
| Start |
10764511:10764511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747349238
|
| CDS Mutation |
c.1813C>T |
| AA Mutation |
p.Pro605Ser(p.P605S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313243 |
| Start |
10791684:10791684(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1307C>A |
| AA Mutation |
p.Ser436Tyr(p.S436Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000313243 |
| Start |
10775410:10775410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1515C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000313243 |
| Start |
10791688:10791689(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1302dupA |
| AA Mutation |
p.Asp435ArgfsTer33(p.D435Rfs*33) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|