| Mutation ID |
50 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000285968 |
| Start |
135594683:135594685(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1969_1971delCCT |
| AA Mutation |
p.Pro657del(p.P657del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
51 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000285968 |
| Start |
135615959:135615960(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3354_3355insCTCAGCAAC |
| AA Mutation |
p.Lys1118_Thr1119insLeuSerAsn(p.K1118_T1119insLSN) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NUP205
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285968 |
| Start |
135576995:135576995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.515G>A |
| AA Mutation |
p.Arg172His(p.R172H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285968 |
| Start |
135601496:135601496(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2501C>T |
| AA Mutation |
p.Ala834Val(p.A834V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285968 |
| Start |
135593051:135593051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1689G>C |
| AA Mutation |
p.Met563Ile(p.M563I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285968 |
| Start |
135571131:135571131(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.55G>T |
| AA Mutation |
p.Asp19Tyr(p.D19Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285968 |
| Start |
135644992:135644992(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5657G>A |
| AA Mutation |
p.Arg1886Gln(p.R1886Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285968 |
| Start |
135584901:135584901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1112T>G |
| AA Mutation |
p.Phe371Cys(p.F371C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000285968 |
| Start |
135617625:135617625(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3714T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000285968 |
| Start |
135619482:135619482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4023A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000285968 |
| Start |
135593174:135593174(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772002920
|
| CDS Mutation |
c.1812G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000285968 |
| Start |
135576355:135576355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770753177
|
| CDS Mutation |
c.429G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000285968 |
| Start |
135617095:135617095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3538C>T |
| AA Mutation |
p.Arg1180Ter(p.R1180*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|