| Mutation ID |
24 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000429094 |
| Start |
44774756:44774756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.985G>T |
| AA Mutation |
p.Glu329Ter(p.E329*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000429094 |
| Start |
44508954:44508954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2431C>T |
| AA Mutation |
p.Gln811Ter(p.Q811*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NELL2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429094 |
| Start |
44520147:44520147(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141156235
|
| CDS Mutation |
c.2258C>T |
| AA Mutation |
p.Pro753Leu(p.P753L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429094 |
| Start |
44875341:44875341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.68G>T |
| AA Mutation |
p.Gly23Val(p.G23V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429094 |
| Start |
44607220:44607220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs562088318
|
| CDS Mutation |
c.1612G>A |
| AA Mutation |
p.Ala538Thr(p.A538T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429094 |
| Start |
44520019:44520019(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2386C>T |
| AA Mutation |
p.Leu796Phe(p.L796F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429094 |
| Start |
44522119:44522119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2056C>A |
| AA Mutation |
p.Leu686Ile(p.L686I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429094 |
| Start |
44523333:44523333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1956T>G |
| AA Mutation |
p.Ile652Met(p.I652M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429094 |
| Start |
44703770:44703770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs114802162
|
| CDS Mutation |
c.1274G>A |
| AA Mutation |
p.Arg425Gln(p.R425Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429094 |
| Start |
44777265:44777265(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.656C>T |
| AA Mutation |
p.Ala219Val(p.A219V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429094 |
| Start |
44875234:44875234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.175C>T |
| AA Mutation |
p.Leu59Phe(p.L59F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333837 |
| Start |
44913823:44913823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.14G>T |
| AA Mutation |
p.Arg5Ile(p.R5I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000429094 |
| Start |
44520167:44520167(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2238C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000429094 |
| Start |
44520004:44520004(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2400+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|