| Mutation ID |
44 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000379958 |
| Start |
93103236:93103237(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2861_2862insTCC |
| AA Mutation |
p.Glu954delinsAspPro(p.E954delinsDP) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
45 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000379958 |
| Start |
93104900:93104901(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1197_1198insTATACACTT |
| AA Mutation |
p.Thr399_Gly400insTyrThrLeu(p.T399_G400insYTL) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SAMD9
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379958 |
| Start |
93103303:93103303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2795C>G |
| AA Mutation |
p.Thr932Ser(p.T932S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379958 |
| Start |
93101786:93101786(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4312T>G |
| AA Mutation |
p.Leu1438Val(p.L1438V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379958 |
| Start |
93105496:93105496(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760045627
|
| CDS Mutation |
c.602C>T |
| AA Mutation |
p.Thr201Ile(p.T201I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379958 |
| Start |
93102636:93102636(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3462T>G |
| AA Mutation |
p.Asp1154Glu(p.D1154E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379958 |
| Start |
93103993:93103993(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2105C>A |
| AA Mutation |
p.Ser702Tyr(p.S702Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379958 |
| Start |
93104468:93104468(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1630C>A |
| AA Mutation |
p.Leu544Ile(p.L544I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379958 |
| Start |
93104797:93104797(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1301T>G |
| AA Mutation |
p.Ile434Ser(p.I434S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379958 |
| Start |
93102143:93102143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3955C>A |
| AA Mutation |
p.Leu1319Ile(p.L1319I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379958 |
| Start |
93103959:93103959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2139A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379958 |
| Start |
93103179:93103179(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2919C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379958 |
| Start |
93102249:93102249(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3849T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|