| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000322716 |
| Start |
36991788:36991789(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1289dupA |
| AA Mutation |
p.Asn430LysfsTer13(p.N430Kfs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000322716 |
| Start |
36991726:36991727(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1351_1352insTTAAATGG |
| AA Mutation |
p.Asp451ValfsTer16(p.D451Vfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EPM2AIP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322716 |
| Start |
36991508:36991508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1570G>T |
| AA Mutation |
p.Asp524Tyr(p.D524Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322716 |
| Start |
36991720:36991720(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1358A>C |
| AA Mutation |
p.Lys453Thr(p.K453T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322716 |
| Start |
36991381:36991381(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748458069
|
| CDS Mutation |
c.1697G>A |
| AA Mutation |
p.Arg566Gln(p.R566Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322716 |
| Start |
36991666:36991666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1412T>C |
| AA Mutation |
p.Phe471Ser(p.F471S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322716 |
| Start |
36992197:36992197(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.881T>C |
| AA Mutation |
p.Val294Ala(p.V294A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|