| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310624 |
| Start |
29490496:29490496(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147416824
|
| CDS Mutation |
c.2856G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310624 |
| Start |
29483385:29483385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.894C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NEFH
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310624 |
| Start |
29490650:29490650(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3010G>T |
| AA Mutation |
p.Asp1004Tyr(p.D1004Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310624 |
| Start |
29489466:29489466(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1826A>G |
| AA Mutation |
p.Lys609Arg(p.K609R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310624 |
| Start |
29490037:29490037(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376035598
|
| CDS Mutation |
c.2397G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000310624 |
| Start |
29485831:29485831(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1192G>T |
| AA Mutation |
p.Glu398Ter(p.E398*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310624 |
| Start |
29490084:29490085(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2450dupA |
| AA Mutation |
p.Glu818GlyfsTer74(p.E818Gfs*74) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|