| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000287878 |
| Start |
151675510:151675511(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.592_593dupCC |
| AA Mutation |
p.Asp199ArgfsTer56(p.D199Rfs*56) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000287878 |
| Start |
151576446:151576457(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.865-5_871delTTCAGGTTAAAA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PRKAG2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000287878 |
| Start |
151572708:151572708(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1007T>C |
| AA Mutation |
p.Val336Ala(p.V336A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287878 |
| Start |
151565752:151565752(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs730880980
|
| CDS Mutation |
c.1367G>A |
| AA Mutation |
p.Arg456Gln(p.R456Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287878 |
| Start |
151565377:151565377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1406T>G |
| AA Mutation |
p.Val469Gly(p.V469G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000287878 |
| Start |
151781417:151781417(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759893229
|
| CDS Mutation |
c.201C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000287878 |
| Start |
151781210:151781210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.408C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|