| Mutation ID |
45 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000164024 |
| Start |
48649138:48649138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777364198
|
| CDS Mutation |
c.6550C>T |
| AA Mutation |
p.Arg2184Ter(p.R2184*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
46 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000164024 |
| Start |
48645746:48645747(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7585dupC |
| AA Mutation |
p.Arg2529ProfsTer2(p.R2529Pfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CELSR3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000164024 |
| Start |
48653178:48653178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5458G>A |
| AA Mutation |
p.Gly1820Arg(p.G1820R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000164024 |
| Start |
48657334:48657334(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3763G>A |
| AA Mutation |
p.Val1255Met(p.V1255M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000164024 |
| Start |
48659978:48659978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2657A>G |
| AA Mutation |
p.Asp886Gly(p.D886G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000164024 |
| Start |
48659858:48659858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2777C>T |
| AA Mutation |
p.Thr926Ile(p.T926I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000164024 |
| Start |
48646151:48646151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7402C>T |
| AA Mutation |
p.Arg2468Cys(p.R2468C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000164024 |
| Start |
48658950:48658950(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3685C>T |
| AA Mutation |
p.Arg1229Ter(p.R1229*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|