| Mutation ID |
18 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000303236 |
| Start |
88579641:88579641(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1764-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000303236 |
| Start |
88593397:88593398(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.641_642insCAGCAACAT |
| AA Mutation |
p.Tyr214_Ile215insSerAsnIle(p.Y214_I215insSNI) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EIF2AK3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000303236 |
| Start |
88613851:88613851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757041625
|
| CDS Mutation |
c.311C>T |
| AA Mutation |
p.Ser104Leu(p.S104L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303236 |
| Start |
88579579:88579579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1825G>A |
| AA Mutation |
p.Glu609Lys(p.E609K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000303236 |
| Start |
88579641:88579641(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1764-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|