| Mutation ID |
26 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378743 |
| Start |
71632230:71632231(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3101_3102insCAGTATTTTTATT |
| AA Mutation |
p.Glu1034AspfsTer26(p.E1034Dfs*26) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000378743 |
| Start |
71619398:71619399(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5060_5061insAAAAAACTG |
| AA Mutation |
p.Asp1687delinsGluLysAsnCys(p.D1687delinsEKNC) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ZFC3H1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378743 |
| Start |
71620262:71620262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4798G>A |
| AA Mutation |
p.Ala1600Thr(p.A1600T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378743 |
| Start |
71636503:71636503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373974920
|
| CDS Mutation |
c.2087G>A |
| AA Mutation |
p.Arg696Gln(p.R696Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000378743 |
| Start |
71614698:71614698(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5363A>G |
| AA Mutation |
p.Tyr1788Cys(p.Y1788C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378743 |
| Start |
71619938:71619938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5037C>A |
| AA Mutation |
p.Phe1679Leu(p.F1679L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378743 |
| Start |
71633405:71633405(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2544G>T |
| AA Mutation |
p.Lys848Asn(p.K848N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378743 |
| Start |
71623482:71623482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4622A>C |
| AA Mutation |
p.Lys1541Thr(p.K1541T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378743 |
| Start |
71663404:71663404(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.207C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000378743 |
| Start |
71644139:71644139(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1459C>T |
| AA Mutation |
p.Arg487Ter(p.R487*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|