| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000397843 |
| Start |
120457234:120457234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2173G>T |
| AA Mutation |
p.Glu725Ter(p.E725*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000397843 |
| Start |
120480061:120480062(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3868_3869insCTGCAAGAATTAAATTA |
| AA Mutation |
p.Gly1290AlafsTer71(p.G1290Afs*71) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ARHGEF12
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397843 |
| Start |
120428101:120428101(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779478124
|
| CDS Mutation |
c.439C>T |
| AA Mutation |
p.Arg147Cys(p.R147C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397843 |
| Start |
120448280:120448280(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1669G>T |
| AA Mutation |
p.Val557Leu(p.V557L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397843 |
| Start |
120459192:120459192(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2399G>T |
| AA Mutation |
p.Arg800Ile(p.R800I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397843 |
| Start |
120407784:120407784(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.103A>G |
| AA Mutation |
p.Lys35Glu(p.K35E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397843 |
| Start |
120448293:120448293(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1682A>G |
| AA Mutation |
p.Glu561Gly(p.E561G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397843 |
| Start |
120441811:120441811(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751135997
|
| CDS Mutation |
c.1197G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397843 |
| Start |
120473112:120473112(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3018T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|