| Mutation ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000265678 |
| Start |
166500902:166500903(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.588dupG |
| AA Mutation |
p.His197AlafsTer3(p.H197Afs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000265678 |
| Start |
166498616:166498618(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs757335153
|
| CDS Mutation |
c.637_639delGAC |
| AA Mutation |
p.Asp213del(p.D213del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RPS6KA2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265678 |
| Start |
166419930:166419930(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766805003
|
| CDS Mutation |
c.1772C>T |
| AA Mutation |
p.Ala591Val(p.A591V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265678 |
| Start |
166538736:166538736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.148G>A |
| AA Mutation |
p.Gly50Ser(p.G50S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000265678 |
| Start |
166500923:166500923(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.568A>G |
| AA Mutation |
p.Ile190Val(p.I190V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265678 |
| Start |
166432474:166432474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768924917
|
| CDS Mutation |
c.1349A>G |
| AA Mutation |
p.Lys450Arg(p.K450R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265678 |
| Start |
166423313:166423313(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1686C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265678 |
| Start |
166451172:166451172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1137G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000503859 |
| Start |
166858202:166858202(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.121G>T |
| AA Mutation |
p.Glu41Ter(p.E41*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|