| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000299824 |
| Start |
38918447:38918447(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1488delC |
| AA Mutation |
p.Phe497SerfsTer24(p.F497Sfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000299824 |
| Start |
38889635:38889636(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.293dupA |
| AA Mutation |
p.Asn98LysfsTer2(p.N98Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PPP1R16B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299824 |
| Start |
38836065:38836065(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.140G>A |
| AA Mutation |
p.Arg47His(p.R47H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299824 |
| Start |
38906033:38906033(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376987738
|
| CDS Mutation |
c.761G>A |
| AA Mutation |
p.Arg254His(p.R254H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299824 |
| Start |
38918269:38918269(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1307A>G |
| AA Mutation |
p.Gln436Arg(p.Q436R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299824 |
| Start |
38918543:38918543(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757677700
|
| CDS Mutation |
c.1581G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299824 |
| Start |
38902744:38902744(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747088066
|
| CDS Mutation |
c.648C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|