| Mutation ID |
39 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31260516:31260516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4577+1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
40 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31229466:31229466(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2850+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NF1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31169986:31169986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs587781670
|
| CDS Mutation |
c.575G>A |
| AA Mutation |
p.Arg192Gln(p.R192Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31206298:31206298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1319G>A |
| AA Mutation |
p.Arg440Gln(p.R440Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31330331:31330331(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5645G>A |
| AA Mutation |
p.Cys1882Tyr(p.C1882Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31235757:31235757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3855G>T |
| AA Mutation |
p.Met1285Ile(p.M1285I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31229873:31229873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2889A>C |
| AA Mutation |
p.Gln963His(p.Q963H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31261722:31261722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4589C>A |
| AA Mutation |
p.Ala1530Asp(p.A1530D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31327587:31327587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5357C>T |
| AA Mutation |
p.Ser1786Leu(p.S1786L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31325879:31325879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4895A>C |
| AA Mutation |
p.Lys1632Thr(p.K1632T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31343046:31343046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7100T>A |
| AA Mutation |
p.Leu2367Gln(p.L2367Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31230308:31230308(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3039G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358273 |
| Start |
31206297:31206297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778405030
|
| CDS Mutation |
c.1318C>T |
| AA Mutation |
p.Arg440Ter(p.R440*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358273 |
| Start |
31265325:31265325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4821T>G |
| AA Mutation |
p.Tyr1607Ter(p.Y1607*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358273 |
| Start |
31357043:31357043(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7822G>T |
| AA Mutation |
p.Glu2608Ter(p.E2608*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000358273 |
| Start |
31182507:31182507(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.731-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|