| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375537 |
| Start |
31887001:31887001(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2112G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375537 |
| Start |
31884685:31884685(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2563delC |
| AA Mutation |
p.Leu855CysfsTer36(p.L855Cfs*36) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EHMT2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375537 |
| Start |
31880110:31880110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs563892777
|
| CDS Mutation |
c.3607G>A |
| AA Mutation |
p.Gly1203Ser(p.G1203S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375537 |
| Start |
31887053:31887053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2060C>T |
| AA Mutation |
p.Thr687Met(p.T687M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375537 |
| Start |
31892426:31892426(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.845G>A |
| AA Mutation |
p.Arg282His(p.R282H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375537 |
| Start |
31888415:31888415(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1457C>T |
| AA Mutation |
p.Ala486Val(p.A486V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375537 |
| Start |
31880731:31880731(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3394C>T |
| AA Mutation |
p.Arg1132Ter(p.R1132*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|