| Mutation ID |
37 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368215 |
| Start |
127996923:127996924(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2741dupA |
| AA Mutation |
p.Asn914LysfsTer10(p.N914Kfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
38 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000368215 |
| Start |
127981115:127981115(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3708+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTPRK
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368215 |
| Start |
127976679:127976679(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3944T>A |
| AA Mutation |
p.Phe1315Tyr(p.F1315Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368215 |
| Start |
128089815:128089815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1340C>A |
| AA Mutation |
p.Pro447His(p.P447H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368215 |
| Start |
128067610:128067610(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2066A>T |
| AA Mutation |
p.Asp689Val(p.D689V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368215 |
| Start |
127973673:127973673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4121T>A |
| AA Mutation |
p.Ile1374Asn(p.I1374N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368215 |
| Start |
127998887:127998887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2509A>G |
| AA Mutation |
p.Thr837Ala(p.T837A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368215 |
| Start |
128322299:128322299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.235A>C |
| AA Mutation |
p.Ile79Leu(p.I79L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368215 |
| Start |
127973148:127973148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375248533
|
| CDS Mutation |
c.4140C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368215 |
| Start |
128089813:128089814(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1341dupC |
| AA Mutation |
p.Lys448GlnfsTer32(p.K448Qfs*32) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|