| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375746 |
| Start |
90877711:90877711(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1323delC |
| AA Mutation |
p.Glu442SerfsTer31(p.E442Sfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375746 |
| Start |
90887821:90887821(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1657delA |
| AA Mutation |
p.Ser553AlafsTer9(p.S553Afs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SYK
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375746 |
| Start |
90874829:90874829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1161G>T |
| AA Mutation |
p.Lys387Asn(p.K387N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375746 |
| Start |
90844213:90844213(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.315G>C |
| AA Mutation |
p.Lys105Asn(p.K105N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375746 |
| Start |
90874699:90874699(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1031A>G |
| AA Mutation |
p.Asp344Gly(p.D344G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000375746 |
| Start |
90887887:90887887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1720C>T |
| AA Mutation |
p.Arg574Ter(p.R574*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375746 |
| Start |
90845506:90845507(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.496dupA |
| AA Mutation |
p.Met166AsnfsTer14(p.M166Nfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|