| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000278612 |
| Start |
108161974:108161975(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3111dupG |
| AA Mutation |
p.Lys1038GlufsTer20(p.K1038Efs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000278612 |
| Start |
108172396:108172407(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2577_2588delTTTTGGCAATTC |
| AA Mutation |
p.Phe860_Ser863del(p.F860_S863del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NPAT
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278612 |
| Start |
108161499:108161499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779721763
|
| CDS Mutation |
c.3587G>A |
| AA Mutation |
p.Arg1196Gln(p.R1196Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278612 |
| Start |
108172772:108172772(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376339017
|
| CDS Mutation |
c.2212G>A |
| AA Mutation |
p.Val738Ile(p.V738I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278612 |
| Start |
108186558:108186558(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.650G>A |
| AA Mutation |
p.Arg217Lys(p.R217K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278612 |
| Start |
108172354:108172354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2630C>T |
| AA Mutation |
p.Ala877Val(p.A877V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278612 |
| Start |
108161548:108161548(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3538A>C |
| AA Mutation |
p.Asn1180His(p.N1180H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278612 |
| Start |
108172577:108172577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200624398
|
| CDS Mutation |
c.2407G>A |
| AA Mutation |
p.Glu803Lys(p.E803K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278612 |
| Start |
108161487:108161487(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3599C>G |
| AA Mutation |
p.Ser1200Cys(p.S1200C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000278612 |
| Start |
108162015:108162015(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3072-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|