| Mutation ID |
38 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65643366:65643367(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.242dupA |
| AA Mutation |
p.Asn81LysfsTer8(p.N81Kfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
39 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65420519:65420520(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1448dupA |
| AA Mutation |
p.Asn483LysfsTer21(p.N483Kfs*21) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EPHA5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65490482:65490482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1297G>A |
| AA Mutation |
p.Ala433Thr(p.A433T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65601716:65601716(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369606981
|
| CDS Mutation |
c.835G>A |
| AA Mutation |
p.Glu279Lys(p.E279K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65601872:65601872(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746706656
|
| CDS Mutation |
c.679C>T |
| AA Mutation |
p.Arg227Cys(p.R227C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65365059:65365059(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2194G>C |
| AA Mutation |
p.Asp732His(p.D732H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65602160:65602160(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.391A>G |
| AA Mutation |
p.Lys131Glu(p.K131E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65324172:65324172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3056T>A |
| AA Mutation |
p.Ile1019Asn(p.I1019N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65336004:65336004(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2780A>G |
| AA Mutation |
p.Glu927Gly(p.E927G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65601829:65601829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.722C>T |
| AA Mutation |
p.Ala241Val(p.A241V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65601989:65601989(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.562C>A |
| AA Mutation |
p.Leu188Ile(p.L188I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65495392:65495392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1062C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65414411:65414411(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1560T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65365045:65365045(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2208C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000273854 |
| Start |
65643367:65643367(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.242delA |
| AA Mutation |
p.Asn81MetfsTer24(p.N81Mfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000273854 |
| Start |
65351455:65351455(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2442C>A |
| AA Mutation |
p.Cys814Ter(p.C814*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000273854 |
| Start |
65602166:65602166(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.385G>T |
| AA Mutation |
p.Glu129Ter(p.E129*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|