| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000331728 |
| Start |
31267874:31267874(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1232delG |
| AA Mutation |
p.Gly411AlafsTer3(p.G411Afs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000331728 |
| Start |
31225733:31225733(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.30G>A |
| AA Mutation |
p.Trp10Ter(p.W10*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LIMK2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000331728 |
| Start |
31262239:31262239(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.657G>T |
| AA Mutation |
p.Glu219Asp(p.E219D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331728 |
| Start |
31267788:31267788(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1141C>T |
| AA Mutation |
p.Arg381Cys(p.R381C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000331728 |
| Start |
31267901:31267901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1254C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000331728 |
| Start |
31267032:31267032(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs114127458
|
| CDS Mutation |
c.1090C>T |
| AA Mutation |
p.Arg364Ter(p.R364*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000331728 |
| Start |
31212425:31212425(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.16+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|