| Mutation ID |
18 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000348417 |
| Start |
129519687:129519687(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3591A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000348417 |
| Start |
129499922:129499922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2229C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IFT122
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348417 |
| Start |
129476739:129476739(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763542859
|
| CDS Mutation |
c.1085G>A |
| AA Mutation |
p.Arg362His(p.R362H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348417 |
| Start |
129515545:129515545(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3211G>T |
| AA Mutation |
p.Gly1071Cys(p.G1071C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348417 |
| Start |
129467019:129467019(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.693G>T |
| AA Mutation |
p.Glu231Asp(p.E231D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348417 |
| Start |
129500050:129500050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2357A>G |
| AA Mutation |
p.Asp786Gly(p.D786G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348417 |
| Start |
129504339:129504339(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2568G>T |
| AA Mutation |
p.Lys856Asn(p.K856N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348417 |
| Start |
129502749:129502749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372519478
|
| CDS Mutation |
c.2414G>A |
| AA Mutation |
p.Arg805His(p.R805H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348417 |
| Start |
129449879:129449879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.50A>C |
| AA Mutation |
p.Asp17Ala(p.D17A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000348417 |
| Start |
129451991:129451991(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755254772
|
| CDS Mutation |
c.186G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|