| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000303545 |
| Start |
124487325:124487325(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1676delG |
| AA Mutation |
p.Arg559LeufsTer60(p.R559Lfs*60) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000303545 |
| Start |
124486339:124486340(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.691_692insAGTAAACA |
| AA Mutation |
p.Arg231LysfsTer2(p.R231Kfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RNF139
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303545 |
| Start |
124486391:124486391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.742G>A |
| AA Mutation |
p.Ala248Thr(p.A248T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303545 |
| Start |
124487024:124487024(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1375G>A |
| AA Mutation |
p.Asp459Asn(p.D459N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303545 |
| Start |
124487135:124487135(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1486C>T |
| AA Mutation |
p.Arg496Trp(p.R496W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303545 |
| Start |
124486812:124486812(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1163G>T |
| AA Mutation |
p.Arg388Ile(p.R388I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303545 |
| Start |
124487423:124487423(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145952657
|
| CDS Mutation |
c.1774G>A |
| AA Mutation |
p.Glu592Lys(p.E592K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303545 |
| Start |
124487583:124487583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1934G>T |
| AA Mutation |
p.Arg645Ile(p.R645I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|