| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000422843 |
| Start |
157181049:157181049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.72G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000422843 |
| Start |
157244423:157244424(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1401_1402dupTG |
| AA Mutation |
p.Glu468ValfsTer37(p.E468Vfs*37) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITK
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422843 |
| Start |
157240065:157240065(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.855G>T |
| AA Mutation |
p.Glu285Asp(p.E285D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000422843 |
| Start |
157222864:157222864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760650238
|
| CDS Mutation |
c.497G>A |
| AA Mutation |
p.Arg166Gln(p.R166Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422843 |
| Start |
157208926:157208926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757740059
|
| CDS Mutation |
c.176G>A |
| AA Mutation |
p.Arg59Gln(p.R59Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422843 |
| Start |
157214315:157214315(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.450G>T |
| AA Mutation |
p.Lys150Asn(p.K150N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422843 |
| Start |
157245956:157245956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1590C>A |
| AA Mutation |
p.Phe530Leu(p.F530L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000422843 |
| Start |
157222952:157222952(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.585C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000422843 |
| Start |
157180986:157180986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761547914
|
| CDS Mutation |
c.9C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000422843 |
| Start |
157211353:157211353(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.310C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000422843 |
| Start |
157241687:157241687(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1027C>T |
| AA Mutation |
p.Gln343Ter(p.Q343*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|