| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000292123 |
| Start |
5654179:5654179(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1645C>T |
| AA Mutation |
p.Arg549Ter(p.R549*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000292123 |
| Start |
5650990:5650992(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs762859329
|
| CDS Mutation |
c.1213_1215delGGT |
| AA Mutation |
p.Gly405del(p.G405del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SAFB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292123 |
| Start |
5645344:5645344(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.554A>G |
| AA Mutation |
p.Asp185Gly(p.D185G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292123 |
| Start |
5651064:5651064(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1285T>C |
| AA Mutation |
p.Tyr429His(p.Y429H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000292123 |
| Start |
5641901:5641901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762779310
|
| CDS Mutation |
c.501C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000292123 |
| Start |
5657348:5657348(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1862+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|