| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264160 |
| Start |
135616166:135616167(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.189dupT |
| AA Mutation |
p.Gly64TrpfsTer8(p.G64Wfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_donor_variant;intron_variant |
| Transcription ID |
ENST00000264160 |
| Start |
135632002:135632005(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.698+3_698+6delAAGT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> R3HDM1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264160 |
| Start |
135724038:135724038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3046C>T |
| AA Mutation |
p.Arg1016Trp(p.R1016W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264160 |
| Start |
135723974:135723974(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2982T>A |
| AA Mutation |
p.Asp994Glu(p.D994E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264160 |
| Start |
135616692:135616692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.238C>T |
| AA Mutation |
p.Arg80Trp(p.R80W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264160 |
| Start |
135639093:135639093(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1190G>T |
| AA Mutation |
p.Ser397Ile(p.S397I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000264160 |
| Start |
135622684:135622685(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.450_451insTCAAGTGATCCACCCACCTGAGCCTCCCC |
| AA Mutation |
p.Ile151SerfsTer7(p.I151Sfs*7) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264160 |
| Start |
135622683:135622684(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.448_449insA |
| AA Mutation |
p.Gly150GlufsTer6(p.G150Efs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|