| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109792679:109792679(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747018354
|
| CDS Mutation |
c.1797G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109808423:109808423(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.432delC |
| AA Mutation |
p.Ile145SerfsTer30(p.I145Sfs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TRPV4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109792426:109792426(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1828C>A |
| AA Mutation |
p.Leu610Ile(p.L610I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109794015:109794015(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1499A>G |
| AA Mutation |
p.Tyr500Cys(p.Y500C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109814547:109814547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.250G>A |
| AA Mutation |
p.Asp84Asn(p.D84N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109783687:109783687(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2550C>G |
| AA Mutation |
p.Asn850Lys(p.N850K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109808467:109808467(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.388A>G |
| AA Mutation |
p.Lys130Glu(p.K130E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109808377:109808377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780102339
|
| CDS Mutation |
c.478C>T |
| AA Mutation |
p.Arg160Trp(p.R160W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109794422:109794422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146929022
|
| CDS Mutation |
c.1398C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109792376:109792376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1878C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|