| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389672 |
| Start |
96814750:96814751(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.132dupG |
| AA Mutation |
p.Arg45AlafsTer48(p.R45Afs*48) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389672 |
| Start |
96987734:96987735(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.859dupG |
| AA Mutation |
p.Ala287GlyfsTer21(p.A287Gfs*21) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EPHA6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389672 |
| Start |
96987456:96987456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.577A>C |
| AA Mutation |
p.Lys193Gln(p.K193Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389672 |
| Start |
97226272:97226272(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1123C>T |
| AA Mutation |
p.Pro375Ser(p.P375S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389672 |
| Start |
96814832:96814832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.209A>T |
| AA Mutation |
p.His70Leu(p.H70L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389672 |
| Start |
97736091:97736091(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3101T>G |
| AA Mutation |
p.Leu1034Arg(p.L1034R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389672 |
| Start |
97483937:97483937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755277174
|
| CDS Mutation |
c.2078G>A |
| AA Mutation |
p.Arg693His(p.R693H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389672 |
| Start |
97747449:97747449(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778168979
|
| CDS Mutation |
c.3155C>T |
| AA Mutation |
p.Pro1052Leu(p.P1052L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389672 |
| Start |
96814748:96814748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.125G>A |
| AA Mutation |
p.Arg42His(p.R42H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389672 |
| Start |
97637942:97637942(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2644T>C |
| AA Mutation |
p.Tyr882His(p.Y882H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389672 |
| Start |
97720317:97720317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2841C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389672 |
| Start |
96987362:96987362(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.483T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000389672 |
| Start |
96987528:96987528(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.649G>T |
| AA Mutation |
p.Glu217Ter(p.E217*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|