| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000240727 |
| Start |
58084800:58084800(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1418delG |
| AA Mutation |
p.Gly473AlafsTer54(p.G473Afs*54) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000240727 |
| Start |
58090006:58090007(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.261dupG |
| AA Mutation |
p.Met88AspfsTer16(p.M88Dfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ZSCAN18
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000240727 |
| Start |
58089928:58089928(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.340C>A |
| AA Mutation |
p.Pro114Thr(p.P114T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000240727 |
| Start |
58086259:58086259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.753G>T |
| AA Mutation |
p.Gln251His(p.Q251H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000240727 |
| Start |
58085123:58085123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752102229
|
| CDS Mutation |
c.1095G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000240727 |
| Start |
58087391:58087391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs116025601
|
| CDS Mutation |
c.567G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000240727 |
| Start |
58090171:58090171(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.97G>T |
| AA Mutation |
p.Glu33Ter(p.E33*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|