| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000294954 |
| Start |
48688329:48688329(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1468G>T |
| AA Mutation |
p.Gly490Ter(p.G490*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000294954 |
| Start |
48688032:48688033(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1764dupT |
| AA Mutation |
p.Ala589CysfsTer17(p.A589Cfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LHCGR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294954 |
| Start |
48688656:48688656(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1141C>A |
| AA Mutation |
p.Leu381Ile(p.L381I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294954 |
| Start |
48687834:48687834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1963G>T |
| AA Mutation |
p.Asp655Tyr(p.D655Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294954 |
| Start |
48714017:48714017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756291465
|
| CDS Mutation |
c.574C>A |
| AA Mutation |
p.His192Asn(p.H192N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000294954 |
| Start |
48688128:48688128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1669G>T |
| AA Mutation |
p.Glu557Ter(p.E557*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|