| Mutation ID |
18 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295379 |
| Start |
68871140:68871140(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769814201
|
| CDS Mutation |
c.219G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295379 |
| Start |
68866524:68866524(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.382delC |
| AA Mutation |
p.Leu128SerfsTer29(p.L128Sfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BMP10
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295379 |
| Start |
68871270:68871270(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.89C>T |
| AA Mutation |
p.Ser30Phe(p.S30F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295379 |
| Start |
68866535:68866535(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777986452
|
| CDS Mutation |
c.371G>A |
| AA Mutation |
p.Arg124Gln(p.R124Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295379 |
| Start |
68865956:68865956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.950A>C |
| AA Mutation |
p.Asn317Thr(p.N317T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295379 |
| Start |
68865648:68865648(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1258G>A |
| AA Mutation |
p.Glu420Lys(p.E420K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295379 |
| Start |
68866118:68866118(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.788A>G |
| AA Mutation |
p.Asp263Gly(p.D263G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295379 |
| Start |
68866536:68866536(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.370C>T |
| AA Mutation |
p.Arg124Ter(p.R124*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|