| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359646 |
| Start |
35653973:35653973(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1350delT |
| AA Mutation |
p.Phe450LeufsTer13(p.F450Lfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359646 |
| Start |
35653767:35653768(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1555_1556insG |
| AA Mutation |
p.Lys519ArgfsTer9(p.K519Rfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RBM12
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359646 |
| Start |
35653450:35653450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1873A>G |
| AA Mutation |
p.Arg625Gly(p.R625G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359646 |
| Start |
35652922:35652922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755229287
|
| CDS Mutation |
c.2401G>A |
| AA Mutation |
p.Gly801Ser(p.G801S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359646 |
| Start |
35654450:35654450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.873G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359646 |
| Start |
35653771:35653771(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1552C>T |
| AA Mutation |
p.Arg518Ter(p.R518*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|