| Mutation ID |
26 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000349721 |
| Start |
2076309:2076310(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2016_2017insACATAAACTA |
| AA Mutation |
p.Asp673ThrfsTer2(p.D673Tfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000349721 |
| Start |
2039827:2039829(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.725_727delAGC |
| AA Mutation |
p.Gln242del(p.Q242del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SMARCA2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349721 |
| Start |
2086832:2086832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2530C>T |
| AA Mutation |
p.Arg844Trp(p.R844W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349721 |
| Start |
2058432:2058432(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1489C>T |
| AA Mutation |
p.Arg497Trp(p.R497W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349721 |
| Start |
2060894:2060894(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1600G>A |
| AA Mutation |
p.Asp534Asn(p.D534N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349721 |
| Start |
2029064:2029064(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.42G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349721 |
| Start |
2032957:2032957(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148086416
|
| CDS Mutation |
c.231C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|