| Mutation ID |
29 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000311275 |
| Start |
47246284:47246284(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1948delA |
| AA Mutation |
p.Ser650AlafsTer37(p.S650Afs*37) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000311275 |
| Start |
47220325:47220325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3358-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ZMYND8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311275 |
| Start |
47210879:47210879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3443A>C |
| AA Mutation |
p.Lys1148Thr(p.K1148T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311275 |
| Start |
47246502:47246502(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760696325
|
| CDS Mutation |
c.1730C>T |
| AA Mutation |
p.Ser577Leu(p.S577L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311275 |
| Start |
47290263:47290263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.612G>T |
| AA Mutation |
p.Lys204Asn(p.K204N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311275 |
| Start |
47287259:47287259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376502713
|
| CDS Mutation |
c.714G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000311275 |
| Start |
47221412:47221412(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3259C>T |
| AA Mutation |
p.Gln1087Ter(p.Q1087*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|