| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295108 |
| Start |
181678206:181678207(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.654dupC |
| AA Mutation |
p.Tyr219LeufsTer25(p.Y219Lfs*25) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000295108 |
| Start |
181677792:181677792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1069T>C |
| AA Mutation |
p.Ter357GlnextTer69(p.*357Qext*69) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NEUROD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295108 |
| Start |
181678067:181678067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.794C>G |
| AA Mutation |
p.Thr265Ser(p.T265S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295108 |
| Start |
181678785:181678785(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.76T>C |
| AA Mutation |
p.Cys26Arg(p.C26R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295108 |
| Start |
181678208:181678208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.653C>A |
| AA Mutation |
p.Pro218His(p.P218H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295108 |
| Start |
181678677:181678677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.184G>A |
| AA Mutation |
p.Glu62Lys(p.E62K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295108 |
| Start |
181678110:181678110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.751G>A |
| AA Mutation |
p.Ala251Thr(p.A251T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295108 |
| Start |
181678789:181678789(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.72C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295108 |
| Start |
181678244:181678245(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs387906384
|
| CDS Mutation |
c.616dupC |
| AA Mutation |
p.His206ProfsTer38(p.H206Pfs*38) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000295108 |
| Start |
181678270:181678290(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.571_591delAATCCTCGGACTTTTCTGCCT |
| AA Mutation |
p.Asn191_Pro197del(p.N191_P197del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
|