| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371122 |
| Start |
129490108:129490108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1900G>T |
| AA Mutation |
p.Glu634Ter(p.E634*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129508015:129508016(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.891dupA |
| AA Mutation |
p.Ser298IlefsTer14(p.S298Ifs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SMARCA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129515709:129515709(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753408575
|
| CDS Mutation |
c.608A>G |
| AA Mutation |
p.Asn203Ser(p.N203S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129481146:129481146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2257C>T |
| AA Mutation |
p.Arg753Cys(p.R753C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129511909:129511909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.705C>A |
| AA Mutation |
p.His235Gln(p.H235Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129499754:129499754(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1255C>A |
| AA Mutation |
p.Leu419Met(p.L419M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129515980:129515980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.443G>A |
| AA Mutation |
p.Arg148His(p.R148H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129480792:129480792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2351C>G |
| AA Mutation |
p.Pro784Arg(p.P784R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129465900:129465900(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2761C>T |
| AA Mutation |
p.Arg921Cys(p.R921C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129511928:129511928(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.686G>A |
| AA Mutation |
p.Arg229Gln(p.R229Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129518445:129518445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.177A>C |
| AA Mutation |
p.Lys59Asn(p.K59N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|