| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35739386:35739386(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1718delC |
| AA Mutation |
p.Pro573HisfsTer21(p.P573Hfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000187397 |
| Start |
35707071:35707071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.784G>T |
| AA Mutation |
p.Glu262Ter(p.E262*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ARPP21
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35739429:35739429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140813903
|
| CDS Mutation |
c.1757C>T |
| AA Mutation |
p.Pro586Leu(p.P586L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35792465:35792465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2116A>G |
| AA Mutation |
p.Asn706Asp(p.N706D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35737301:35737301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142886822
|
| CDS Mutation |
c.1583C>T |
| AA Mutation |
p.Pro528Leu(p.P528L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35721756:35721756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1147A>G |
| AA Mutation |
p.Ser383Gly(p.S383G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35689374:35689374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.474G>T |
| AA Mutation |
p.Lys158Asn(p.K158N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35690103:35690103(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.508A>G |
| AA Mutation |
p.Met170Val(p.M170V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35715472:35715472(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.931A>C |
| AA Mutation |
p.Asn311His(p.N311H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35729432:35729432(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1355G>A |
| AA Mutation |
p.Gly452Glu(p.G452E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000187397 |
| Start |
35739370:35739370(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368956855
|
| CDS Mutation |
c.1698G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|