| Mutation ID |
45 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000504154 |
| Start |
20467825:20467825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.467+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
46 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000504154 |
| Start |
20256734:20256735(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.244_245insAAAAAAAAA |
| AA Mutation |
p.Leu81_Arg82insLysLysLys(p.L81_R82insKKK) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLIT2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504154 |
| Start |
20548522:20548522(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2380A>T |
| AA Mutation |
p.Asn794Tyr(p.N794Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504154 |
| Start |
20256704:20256704(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.212C>T |
| AA Mutation |
p.Thr71Met(p.T71M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504154 |
| Start |
20253850:20253850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.35C>T |
| AA Mutation |
p.Ser12Leu(p.S12L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504154 |
| Start |
20598343:20598343(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3640C>T |
| AA Mutation |
p.Arg1214Cys(p.R1214C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504154 |
| Start |
20253846:20253846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.31C>G |
| AA Mutation |
p.Leu11Val(p.L11V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504154 |
| Start |
20618825:20618825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4406C>T |
| AA Mutation |
p.Ala1469Val(p.A1469V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504154 |
| Start |
20568876:20568876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760645808
|
| CDS Mutation |
c.2960C>T |
| AA Mutation |
p.Ala987Val(p.A987V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504154 |
| Start |
20610155:20610155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3835C>A |
| AA Mutation |
p.Leu1279Ile(p.L1279I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000504154 |
| Start |
20480752:20480752(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.504T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000504154 |
| Start |
20596640:20596640(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3546G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000504154 |
| Start |
20541571:20541571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2095G>T |
| AA Mutation |
p.Glu699Ter(p.E699*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|