| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000247191 |
| Start |
55183719:55183719(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.273delA |
| AA Mutation |
p.Lys91AsnfsTer16(p.K91Nfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000247191 |
| Start |
55151836:55151837(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2226dupA |
| AA Mutation |
p.Glu743ArgfsTer25(p.E743Rfs*25) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DLGAP5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247191 |
| Start |
55179634:55179634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.769G>T |
| AA Mutation |
p.Asp257Tyr(p.D257Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000247191 |
| Start |
55183562:55183562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.430A>C |
| AA Mutation |
p.Lys144Gln(p.K144Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247191 |
| Start |
55158568:55158568(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139031197
|
| CDS Mutation |
c.1827C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247191 |
| Start |
55154712:55154712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1968T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000247191 |
| Start |
55169461:55169461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs565083852
|
| CDS Mutation |
c.1486C>T |
| AA Mutation |
p.Arg496Ter(p.R496*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|