| Mutation ID |
40 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360304 |
| Start |
123647384:123647384(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4459C>T |
| AA Mutation |
p.Arg1487Ter(p.R1487*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
41 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360304 |
| Start |
123739017:123739017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.468G>A |
| AA Mutation |
p.Trp156Ter(p.W156*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MYLK
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360304 |
| Start |
123666301:123666301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139817477
|
| CDS Mutation |
c.3749G>A |
| AA Mutation |
p.Arg1250His(p.R1250H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360304 |
| Start |
123647240:123647240(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776503378
|
| CDS Mutation |
c.4603G>A |
| AA Mutation |
p.Val1535Ile(p.V1535I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360304 |
| Start |
123657167:123657167(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4247G>A |
| AA Mutation |
p.Ser1416Asn(p.S1416N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360304 |
| Start |
123647404:123647404(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4439G>A |
| AA Mutation |
p.Arg1480Gln(p.R1480Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360304 |
| Start |
123708834:123708834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2004C>G |
| AA Mutation |
p.Asp668Glu(p.D668E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360304 |
| Start |
123700369:123700369(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764470740
|
| CDS Mutation |
c.3099G>T |
| AA Mutation |
p.Glu1033Asp(p.E1033D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360304 |
| Start |
123726008:123726008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1587G>T |
| AA Mutation |
p.Gln529His(p.Q529H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360304 |
| Start |
123664175:123664175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371602931
|
| CDS Mutation |
c.3915C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360304 |
| Start |
123793686:123793686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200095645
|
| CDS Mutation |
c.156C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|