| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343115 |
| Start |
110257829:110257829(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.636delA |
| AA Mutation |
p.Gly213GlufsTer6(p.G213Efs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343115 |
| Start |
110233411:110233412(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs780998172
|
| CDS Mutation |
c.1412dupC |
| AA Mutation |
p.Pro472SerfsTer16(p.P472Sfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RDX
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343115 |
| Start |
110237580:110237580(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1163G>A |
| AA Mutation |
p.Arg388Gln(p.R388Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343115 |
| Start |
110254069:110254069(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150863373
|
| CDS Mutation |
c.836G>A |
| AA Mutation |
p.Arg279Gln(p.R279Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343115 |
| Start |
110254087:110254087(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142346566
|
| CDS Mutation |
c.818G>A |
| AA Mutation |
p.Arg273His(p.R273H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343115 |
| Start |
110233356:110233356(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs34471100
|
| CDS Mutation |
c.1468G>A |
| AA Mutation |
p.Asp490Asn(p.D490N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343115 |
| Start |
110264219:110264219(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.208G>T |
| AA Mutation |
p.Val70Phe(p.V70F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|