| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368468 |
| Start |
119348548:119348548(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.518delC |
| AA Mutation |
p.Pro173ArgfsTer30(p.P173Rfs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368468 |
| Start |
119348851:119348852(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.214dupG |
| AA Mutation |
p.Val72GlyfsTer93(p.V72Gfs*93) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MAN1A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368468 |
| Start |
119189669:119189669(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1541G>A |
| AA Mutation |
p.Arg514Gln(p.R514Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000368468 |
| Start |
119189670:119189670(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1540C>T |
| AA Mutation |
p.Arg514Ter(p.R514*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|