| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000347776 |
| Start |
49382900:49382901(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.10dupA |
| AA Mutation |
p.Met4AsnfsTer5(p.M4Nfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000347776 |
| Start |
49310978:49310980(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.848_850delGTC |
| AA Mutation |
p.Ser283_Pro284delinsThr(p.S283_P284delinsT) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CAB39L
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347776 |
| Start |
49344225:49344225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.578G>A |
| AA Mutation |
p.Arg193Lys(p.R193K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347776 |
| Start |
49350856:49350856(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757820177
|
| CDS Mutation |
c.452G>A |
| AA Mutation |
p.Arg151Gln(p.R151Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000347776 |
| Start |
49359818:49359818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.291G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000347776 |
| Start |
49382865:49382865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.46G>T |
| AA Mutation |
p.Glu16Ter(p.E16*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|