| Mutation ID |
34 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91375728:91375728(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1396-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
35 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91322998:91322998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2535-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HFM1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91353102:91353102(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1780G>T |
| AA Mutation |
p.Asp594Tyr(p.D594Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91315915:91315915(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3040T>G |
| AA Mutation |
p.Phe1014Val(p.F1014V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91394322:91394322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.265A>C |
| AA Mutation |
p.Lys89Gln(p.K89Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91319353:91319353(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2620G>A |
| AA Mutation |
p.Asp874Asn(p.D874N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91379107:91379107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1114G>T |
| AA Mutation |
p.Asp372Tyr(p.D372Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91401058:91401058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.25T>C |
| AA Mutation |
p.Phe9Leu(p.F9L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91315950:91315950(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148381777
|
| CDS Mutation |
c.3005C>T |
| AA Mutation |
p.Thr1002Met(p.T1002M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91262281:91262281(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4198T>G |
| AA Mutation |
p.Phe1400Val(p.F1400V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91385658:91385658(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.671A>C |
| AA Mutation |
p.Asn224Thr(p.N224T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91315850:91315850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748543481
|
| CDS Mutation |
c.3105C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91353148:91353148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1734C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370425 |
| Start |
91385605:91385605(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.724delT |
| AA Mutation |
p.Ser242GlnfsTer12(p.S242Qfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370425 |
| Start |
91266054:91266054(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3937G>T |
| AA Mutation |
p.Glu1313Ter(p.E1313*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|