| Mutation ID |
42 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000339876 |
| Start |
204987441:204987441(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2494C>T |
| AA Mutation |
p.Arg832Ter(p.R832*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
43 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000339876 |
| Start |
204973276:204973276(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1136C>A |
| AA Mutation |
p.Ser379Ter(p.S379*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NFASC
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339876 |
| Start |
204974229:204974229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138932973
|
| CDS Mutation |
c.1330C>A |
| AA Mutation |
p.Leu444Ile(p.L444I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339876 |
| Start |
204954282:204954282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767296212
|
| CDS Mutation |
c.310C>T |
| AA Mutation |
p.Arg104Cys(p.R104C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339876 |
| Start |
204944391:204944391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.76G>A |
| AA Mutation |
p.Glu26Lys(p.E26K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339876 |
| Start |
205012832:205012832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3457G>T |
| AA Mutation |
p.Asp1153Tyr(p.D1153Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339876 |
| Start |
204997316:204997316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs577386291
|
| CDS Mutation |
c.2929G>A |
| AA Mutation |
p.Val977Ile(p.V977I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339876 |
| Start |
204988750:204988750(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2711C>T |
| AA Mutation |
p.Thr904Met(p.T904M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000339876 |
| Start |
204954866:204954866(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149151832
|
| CDS Mutation |
c.450C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000339876 |
| Start |
205016488:205016488(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772865262
|
| CDS Mutation |
c.3672C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|