| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000242351 |
| Start |
139080215:139080215(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.726A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000242351 |
| Start |
139089633:139089633(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.435delT |
| AA Mutation |
p.Phe145LeufsTer49(p.F145Lfs*49) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ZC3HAV1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242351 |
| Start |
139078592:139078592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1533A>C |
| AA Mutation |
p.Glu511Asp(p.E511D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242351 |
| Start |
139078594:139078594(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1531G>A |
| AA Mutation |
p.Glu511Lys(p.E511K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242351 |
| Start |
139089680:139089680(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.388A>C |
| AA Mutation |
p.Asn130His(p.N130H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242351 |
| Start |
139047788:139047788(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371159477
|
| CDS Mutation |
c.2515G>A |
| AA Mutation |
p.Val839Ile(p.V839I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242351 |
| Start |
139047736:139047736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs542431197
|
| CDS Mutation |
c.2567C>T |
| AA Mutation |
p.Thr856Met(p.T856M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242351 |
| Start |
139089695:139089695(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.373G>A |
| AA Mutation |
p.Glu125Lys(p.E125K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000242351 |
| Start |
139079585:139079585(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1356C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000242351 |
| Start |
139053965:139053965(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2318G>A |
| AA Mutation |
p.Trp773Ter(p.W773*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|