| Mutation ID |
27 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000221166 |
| Start |
24917358:24917359(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs770493511
|
| CDS Mutation |
c.1514_1516dupAAG |
| AA Mutation |
p.Glu505dup(p.E505dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000221166 |
| Start |
24913794:24913794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1A>G |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NEFM
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221166 |
| Start |
24917738:24917738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1883C>A |
| AA Mutation |
p.Ser628Tyr(p.S628Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221166 |
| Start |
24915635:24915635(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1111C>T |
| AA Mutation |
p.Arg371Trp(p.R371W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000221166 |
| Start |
24913847:24913847(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.54C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000221166 |
| Start |
24915616:24915616(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1092G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000221166 |
| Start |
24914699:24914699(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.906G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000221166 |
| Start |
24914093:24914093(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.300C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|