| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367229 |
| Start |
203216965:203216965(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1325delC |
| AA Mutation |
p.Ala442GlyfsTer36(p.A442Gfs*36) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000367229 |
| Start |
203225047:203225047(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201510066
|
| CDS Mutation |
c.314+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHIT1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367229 |
| Start |
203223515:203223515(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142999142
|
| CDS Mutation |
c.460C>T |
| AA Mutation |
p.Arg154Cys(p.R154C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367229 |
| Start |
203223155:203223155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs114168492
|
| CDS Mutation |
c.585C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367229 |
| Start |
203217020:203217021(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1269dupA |
| AA Mutation |
p.Ala424SerfsTer2(p.A424Sfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|