| Mutation ID |
20 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000403050 |
| Start |
11013908:11013908(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1205+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000403050 |
| Start |
10983043:10983057(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.784_798delCCTGCCAGTGAAGGG |
| AA Mutation |
p.Pro262_Gly266del(p.P262_G266del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PHF14
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000403050 |
| Start |
10990743:10990743(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs188488010
|
| CDS Mutation |
c.941A>C |
| AA Mutation |
p.Gln314Pro(p.Q314P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000403050 |
| Start |
11022923:11022923(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1261G>T |
| AA Mutation |
p.Asp421Tyr(p.D421Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000403050 |
| Start |
10982705:10982705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.446C>G |
| AA Mutation |
p.Ala149Gly(p.A149G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000403050 |
| Start |
10982643:10982643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.384G>T |
| AA Mutation |
p.Glu128Asp(p.E128D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000403050 |
| Start |
11062005:11062005(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2574delG |
| AA Mutation |
p.Leu858PhefsTer10(p.L858Ffs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000403050 |
| Start |
10982799:10982799(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.546delA |
| AA Mutation |
p.Lys182AsnfsTer19(p.K182Nfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000403050 |
| Start |
10990743:10990743(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.946delA |
| AA Mutation |
p.Met316TrpfsTer5(p.M316Wfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000403050 |
| Start |
10982902:10982902(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.643C>T |
| AA Mutation |
p.Arg215Ter(p.R215*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000403050 |
| Start |
11062006:11062006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2575C>T |
| AA Mutation |
p.Gln859Ter(p.Q859*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000403050 |
| Start |
11061809:11061809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2500C>T |
| AA Mutation |
p.Arg834Ter(p.R834*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000403050 |
| Start |
11037080:11037080(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1969G>T |
| AA Mutation |
p.Glu657Ter(p.E657*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|