| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000216061 |
| Start |
50406826:50406827(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.371dupT |
| AA Mutation |
p.Ser125GlnfsTer64(p.S125Qfs*64) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000216061 |
| Start |
50444217:50444219(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2873_2875delAAG |
| AA Mutation |
p.Glu958del(p.E958del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PPP6R2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216061 |
| Start |
50406870:50406870(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748415912
|
| CDS Mutation |
c.409G>A |
| AA Mutation |
p.Glu137Lys(p.E137K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216061 |
| Start |
50440939:50440939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765052205
|
| CDS Mutation |
c.2513C>T |
| AA Mutation |
p.Ala838Val(p.A838V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000216061 |
| Start |
50440981:50440981(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2561delC |
| AA Mutation |
p.Pro854ArgfsTer23(p.P854Rfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|