| Mutation ID |
27 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000490131 |
| Start |
122257245:122257245(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.353delA |
| AA Mutation |
p.Asn118ThrfsTer6(p.N118Tfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000490131 |
| Start |
122284198:122284198(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2244delG |
| AA Mutation |
p.Ser749GlnfsTer28(p.S749Qfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CASR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000490131 |
| Start |
122257190:122257190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.295G>A |
| AA Mutation |
p.Asp99Asn(p.D99N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000490131 |
| Start |
122262324:122262324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1289C>T |
| AA Mutation |
p.Ala430Val(p.A430V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000490131 |
| Start |
122275903:122275903(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202112921
|
| CDS Mutation |
c.1469C>T |
| AA Mutation |
p.Ser490Phe(p.S490F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000490131 |
| Start |
122284913:122284913(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2959A>G |
| AA Mutation |
p.Met987Val(p.M987V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000490131 |
| Start |
122284129:122284129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2175C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000490131 |
| Start |
122261714:122261714(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.679C>T |
| AA Mutation |
p.Arg227Ter(p.R227*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|