| Mutation ID |
25 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000265310 |
| Start |
142914879:142914879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1452+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000265310 |
| Start |
142925527:142925527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1122+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TRPV5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265310 |
| Start |
142909542:142909542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148001669
|
| CDS Mutation |
c.1843C>T |
| AA Mutation |
p.Arg615Cys(p.R615C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265310 |
| Start |
142925566:142925566(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1085C>A |
| AA Mutation |
p.Ser362Tyr(p.S362Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265310 |
| Start |
142929116:142929116(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.492G>T |
| AA Mutation |
p.Glu164Asp(p.E164D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265310 |
| Start |
142930162:142930162(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755851621
|
| CDS Mutation |
c.245C>T |
| AA Mutation |
p.Ala82Val(p.A82V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265310 |
| Start |
142925610:142925610(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs55754004
|
| CDS Mutation |
c.1041C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265310 |
| Start |
142908534:142908534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2170G>T |
| AA Mutation |
p.Glu724Ter(p.E724*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|