| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000394809 |
| Start |
46710684:46710684(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs527308018
|
| CDS Mutation |
c.2220G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394809 |
| Start |
46740129:46740129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.496G>T |
| AA Mutation |
p.Glu166Ter(p.E166*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MYLK3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394809 |
| Start |
46732228:46732228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1442A>G |
| AA Mutation |
p.Glu481Gly(p.E481G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394809 |
| Start |
46721142:46721142(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1966G>A |
| AA Mutation |
p.Asp656Asn(p.D656N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394809 |
| Start |
46737819:46737819(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.893T>C |
| AA Mutation |
p.Leu298Ser(p.L298S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394809 |
| Start |
46732393:46732393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1277C>G |
| AA Mutation |
p.Thr426Arg(p.T426R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394809 |
| Start |
46732499:46732499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1171G>T |
| AA Mutation |
p.Glu391Ter(p.E391*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394809 |
| Start |
46737853:46737853(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.859G>T |
| AA Mutation |
p.Gly287Ter(p.G287*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|