| Mutation ID |
37 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000336119 |
| Start |
247425280:247425280(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1837G>T |
| AA Mutation |
p.Glu613Ter(p.E613*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
38 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336119 |
| Start |
247429627:247429628(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2203dupT |
| AA Mutation |
p.Ser735PhefsTer11(p.S735Ffs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NLRP3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336119 |
| Start |
247418972:247418972(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.178G>A |
| AA Mutation |
p.Asp60Asn(p.D60N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336119 |
| Start |
247436019:247436019(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763204649
|
| CDS Mutation |
c.2548G>T |
| AA Mutation |
p.Val850Leu(p.V850L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336119 |
| Start |
247436088:247436088(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201867582
|
| CDS Mutation |
c.2617G>A |
| AA Mutation |
p.Ala873Thr(p.A873T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336119 |
| Start |
247429719:247429719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759466218
|
| CDS Mutation |
c.2291C>T |
| AA Mutation |
p.Thr764Met(p.T764M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336119 |
| Start |
247423900:247423900(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.457G>T |
| AA Mutation |
p.Asp153Tyr(p.D153Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336119 |
| Start |
247424646:247424646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1203G>T |
| AA Mutation |
p.Glu401Asp(p.E401D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000336119 |
| Start |
247423289:247423289(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.343G>T |
| AA Mutation |
p.Glu115Ter(p.E115*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336119 |
| Start |
247425521:247425522(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2078_2079insTTCT |
| AA Mutation |
p.Glu693AspfsTer11(p.E693Dfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|