| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360851 |
| Start |
183884802:183884803(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.815_816insCATATGGCAAA |
| AA Mutation |
p.Leu272PhefsTer55(p.L272Ffs*55) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000360851 |
| Start |
183902592:183902594(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1344_1346delGAG |
| AA Mutation |
p.Arg450del(p.R450del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RGL1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360851 |
| Start |
183912185:183912185(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766605243
|
| CDS Mutation |
c.1666G>A |
| AA Mutation |
p.Val556Met(p.V556M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360851 |
| Start |
183884775:183884775(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141178460
|
| CDS Mutation |
c.788G>A |
| AA Mutation |
p.Arg263Gln(p.R263Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000360851 |
| Start |
183900234:183900234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1315G>A |
| AA Mutation |
p.Glu439Lys(p.E439K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360851 |
| Start |
183926213:183926213(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200168009
|
| CDS Mutation |
c.2228G>A |
| AA Mutation |
p.Arg743His(p.R743H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304685 |
| Start |
183742261:183742261(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764156252
|
| CDS Mutation |
c.104G>A |
| AA Mutation |
p.Arg35Gln(p.R35Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360851 |
| Start |
183916677:183916677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756203806
|
| CDS Mutation |
c.1980C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000360851 |
| Start |
183883785:183883785(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.611-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000360851 |
| Start |
183847776:183847776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.347+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|