| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000321545 |
| Start |
57327868:57327868(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.409delA |
| AA Mutation |
p.Ile137Ter(p.I137*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000321545 |
| Start |
57328444:57328444(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747060594
|
| CDS Mutation |
c.982C>T |
| AA Mutation |
p.Arg328Ter(p.R328*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ZNF543
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321545 |
| Start |
57328890:57328890(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1428G>T |
| AA Mutation |
p.Glu476Asp(p.E476D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321545 |
| Start |
57328127:57328127(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.665C>A |
| AA Mutation |
p.Thr222Asn(p.T222N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321545 |
| Start |
57328058:57328058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.596A>C |
| AA Mutation |
p.Tyr199Ser(p.Y199S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321545 |
| Start |
57328083:57328083(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.621G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000321545 |
| Start |
57328984:57328984(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1522G>T |
| AA Mutation |
p.Glu508Ter(p.E508*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|