| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000426398 |
| Start |
96812873:96812873(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1337delA |
| AA Mutation |
p.Asn446IlefsTer21(p.N446Ifs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000426398 |
| Start |
96812888:96812889(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1353dupT |
| AA Mutation |
p.Pro452SerfsTer10(p.P452Sfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTBP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000426398 |
| Start |
96751437:96751437(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.52G>A |
| AA Mutation |
p.Glu18Lys(p.E18K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000426398 |
| Start |
96770771:96770771(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.352A>C |
| AA Mutation |
p.Thr118Pro(p.T118P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000426398 |
| Start |
96769817:96769817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.230C>A |
| AA Mutation |
p.Ala77Asp(p.A77D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|