| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000267064 |
| Start |
56165329:56165329(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs760211512
|
| CDS Mutation |
c.3128delC |
| AA Mutation |
p.Pro1043LeufsTer18(p.P1043Lfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000267064 |
| Start |
56181543:56181544(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.894_895insTGGTTAT |
| AA Mutation |
p.Arg299TrpfsTer3(p.R299Wfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SMARCC2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267064 |
| Start |
56168146:56168146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2671C>A |
| AA Mutation |
p.Leu891Met(p.L891M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267064 |
| Start |
56165608:56165608(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2849A>C |
| AA Mutation |
p.His950Pro(p.H950P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267064 |
| Start |
56171905:56171905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1866A>C |
| AA Mutation |
p.Lys622Asn(p.K622N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267064 |
| Start |
56168117:56168117(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2700G>T |
| AA Mutation |
p.Glu900Asp(p.E900D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000267064 |
| Start |
56169673:56169673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764244157
|
| CDS Mutation |
c.2478G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000267064 |
| Start |
56169858:56169858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2373C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000267064 |
| Start |
56183898:56183898(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.595A>T |
| AA Mutation |
p.Lys199Ter(p.K199*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|