| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000374448 |
| Start |
110800904:110800904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2526G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000374448 |
| Start |
110767847:110767847(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.948C>A |
| AA Mutation |
p.Tyr316Ter(p.Y316*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MUSK
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374448 |
| Start |
110747715:110747715(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.828G>T |
| AA Mutation |
p.Lys276Asn(p.K276N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374448 |
| Start |
110800950:110800950(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200450921
|
| CDS Mutation |
c.2572C>T |
| AA Mutation |
p.Arg858Cys(p.R858C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374448 |
| Start |
110668917:110668917(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765874906
|
| CDS Mutation |
c.13G>A |
| AA Mutation |
p.Val5Ile(p.V5I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000374448 |
| Start |
110682747:110682747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.153G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000374448 |
| Start |
110800938:110800938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764615519
|
| CDS Mutation |
c.2560C>T |
| AA Mutation |
p.Arg854Ter(p.R854*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000374448 |
| Start |
110776643:110776643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1372G>T |
| AA Mutation |
p.Glu458Ter(p.E458*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|