| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000248929 |
| Start |
40406111:40406111(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.848delC |
| AA Mutation |
p.Thr283ArgfsTer42(p.T283Rfs*42) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000248929 |
| Start |
40404321:40404321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.232C>T |
| AA Mutation |
p.Gln78Ter(p.Q78*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_donor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000248929 |
| Start |
40401672:40401680(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.90+1_90+9delGTATAGCAG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SGSM3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000248929 |
| Start |
40408364:40408364(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768697517
|
| CDS Mutation |
c.1717G>A |
| AA Mutation |
p.Glu573Lys(p.E573K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|