| Mutation ID |
20 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53805354:53805354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371264069
|
| CDS Mutation |
c.2340C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53807550:53807550(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs777281641
|
| CDS Mutation |
c.2188delG |
| AA Mutation |
p.Val730Ter(p.V730*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NLRP12
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53798316:53798316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140792345
|
| CDS Mutation |
c.2854G>A |
| AA Mutation |
p.Asp952Asn(p.D952N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53809977:53809977(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1682G>A |
| AA Mutation |
p.Arg561His(p.R561H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53810488:53810488(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1171G>T |
| AA Mutation |
p.Val391Leu(p.V391L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53810770:53810770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.889G>A |
| AA Mutation |
p.Asp297Asn(p.D297N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53807573:53807573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199475868
|
| CDS Mutation |
c.2165G>A |
| AA Mutation |
p.Arg722Gln(p.R722Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53810557:53810557(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs541068679
|
| CDS Mutation |
c.1102G>A |
| AA Mutation |
p.Ala368Thr(p.A368T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53824009:53824009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.166A>C |
| AA Mutation |
p.Met56Leu(p.M56L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53810385:53810385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1274G>A |
| AA Mutation |
p.Arg425Lys(p.R425K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53811258:53811258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.401G>A |
| AA Mutation |
p.Arg134His(p.R134H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53810657:53810657(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1002T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53798392:53798392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2778C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53794088:53794088(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148506660
|
| CDS Mutation |
c.3147G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324134 |
| Start |
53810771:53810771(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs538564043
|
| CDS Mutation |
c.888C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|