| Mutation ID |
42 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000282030 |
| Start |
44950760:44950760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1420G>T |
| AA Mutation |
p.Glu474Ter(p.E474*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
43 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000282030 |
| Start |
44950354:44950355(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1020dupA |
| AA Mutation |
p.Asp341ArgfsTer23(p.D341Rfs*23) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SETBP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282030 |
| Start |
44951480:44951480(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2140A>C |
| AA Mutation |
p.Asn714His(p.N714H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282030 |
| Start |
44951621:44951621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745506540
|
| CDS Mutation |
c.2281G>A |
| AA Mutation |
p.Val761Met(p.V761M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282030 |
| Start |
44951762:44951762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2422C>A |
| AA Mutation |
p.Leu808Ile(p.L808I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282030 |
| Start |
44950783:44950783(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1443A>C |
| AA Mutation |
p.Glu481Asp(p.E481D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282030 |
| Start |
44952362:44952362(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776187085
|
| CDS Mutation |
c.3022C>T |
| AA Mutation |
p.Arg1008Cys(p.R1008C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282030 |
| Start |
44951359:44951359(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2019G>T |
| AA Mutation |
p.Lys673Asn(p.K673N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000282030 |
| Start |
44950633:44950633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1293C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000282030 |
| Start |
45063299:45063299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4392C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000282030 |
| Start |
44950006:44950006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.666G>A |
| AA Mutation |
p.Trp222Ter(p.W222*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|