| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000496811 |
| Start |
154301075:154301075(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1270C>T |
| AA Mutation |
p.Gln424Ter(p.Q424*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000496811 |
| Start |
154284905:154284906(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2113dupA |
| AA Mutation |
p.Met705AsnfsTer20(p.M705Nfs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DHX36
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000496811 |
| Start |
154293796:154293796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1622C>T |
| AA Mutation |
p.Pro541Leu(p.P541L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000496811 |
| Start |
154309700:154309700(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.766G>A |
| AA Mutation |
p.Ala256Thr(p.A256T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000496811 |
| Start |
154293802:154293802(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1616G>T |
| AA Mutation |
p.Arg539Ile(p.R539I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000496811 |
| Start |
154315214:154315214(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747815107
|
| CDS Mutation |
c.435G>T |
| AA Mutation |
p.Lys145Asn(p.K145N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000496811 |
| Start |
154324345:154324345(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.72G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000496811 |
| Start |
154324376:154324376(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.41delG |
| AA Mutation |
p.Gly14ValfsTer44(p.G14Vfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000496811 |
| Start |
154280586:154280586(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2560delA |
| AA Mutation |
p.Arg854GlufsTer4(p.R854Efs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000496811 |
| Start |
154284966:154284966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2053G>T |
| AA Mutation |
p.Glu685Ter(p.E685*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000496811 |
| Start |
154304872:154304872(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746199451
|
| CDS Mutation |
c.1069C>T |
| AA Mutation |
p.Arg357Ter(p.R357*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000496811 |
| Start |
154288966:154288966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1933-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|