| Mutation ID |
50 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000317775 |
| Start |
117311481:117311481(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.837T>G |
| AA Mutation |
p.Tyr279Ter(p.Y279*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
51 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117288210:117288211(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.990_991insCCCTT |
| AA Mutation |
p.Cys331ProfsTer61(p.C331Pfs*61) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NOS1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117330364:117330364(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.706A>G |
| AA Mutation |
p.Met236Val(p.M236V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117286253:117286253(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1141G>A |
| AA Mutation |
p.Ala381Thr(p.A381T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117280801:117280801(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1448A>C |
| AA Mutation |
p.Gln483Pro(p.Q483P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117290345:117290345(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.934G>A |
| AA Mutation |
p.Glu312Lys(p.E312K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117286150:117286150(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1244G>A |
| AA Mutation |
p.Arg415Gln(p.R415Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117311498:117311498(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.820G>A |
| AA Mutation |
p.Val274Ile(p.V274I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117234757:117234757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3043C>T |
| AA Mutation |
p.Arg1015Trp(p.R1015W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117260597:117260597(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2235C>A |
| AA Mutation |
p.Phe745Leu(p.F745L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117260520:117260520(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150227193
|
| CDS Mutation |
c.2312C>T |
| AA Mutation |
p.Ser771Leu(p.S771L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117285327:117285327(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753948003
|
| CDS Mutation |
c.1296C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117265325:117265325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761279962
|
| CDS Mutation |
c.2127C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117288196:117288196(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779047697
|
| CDS Mutation |
c.1005C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117253703:117253703(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2583delA |
| AA Mutation |
p.Lys861AsnfsTer22(p.K861Nfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317775 |
| Start |
117268108:117268108(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1876delA |
| AA Mutation |
p.Thr626ArgfsTer26(p.T626Rfs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|