| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389629 |
| Start |
41464812:41464813(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.706_707delAA |
| AA Mutation |
p.Lys236GlufsTer37(p.K236Efs*37) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000389629 |
| Start |
41475523:41475523(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1287-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RTF1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389629 |
| Start |
41464855:41464855(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.747G>T |
| AA Mutation |
p.Lys249Asn(p.K249N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389629 |
| Start |
41471234:41471234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1088G>A |
| AA Mutation |
p.Arg363Gln(p.R363Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389629 |
| Start |
41438415:41438415(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.293C>T |
| AA Mutation |
p.Ser98Phe(p.S98F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389629 |
| Start |
41476477:41476477(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1514C>T |
| AA Mutation |
p.Ala505Val(p.A505V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389629 |
| Start |
41464812:41464813(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.706_707delAA |
| AA Mutation |
p.Lys236GlufsTer37(p.K236Efs*37) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000389629 |
| Start |
41466228:41466228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747435783
|
| CDS Mutation |
c.865C>T |
| AA Mutation |
p.Arg289Ter(p.R289*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|