| Mutation ID |
49 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000399982 |
| Start |
21429127:21429128(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1051dupA |
| AA Mutation |
p.Ile351AsnfsTer70(p.I351Nfs*70) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
50 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000399982 |
| Start |
21393540:21393541(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6252_6254dupTTC |
| AA Mutation |
p.Ser2094dup(p.S2094dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHD8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399982 |
| Start |
21401066:21401066(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4179T>G |
| AA Mutation |
p.Asn1393Lys(p.N1393K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399982 |
| Start |
21415737:21415737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1887G>A |
| AA Mutation |
p.Met629Ile(p.M629I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399982 |
| Start |
21405309:21405309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3207C>A |
| AA Mutation |
p.Phe1069Leu(p.F1069L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399982 |
| Start |
21406919:21406919(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2844T>A |
| AA Mutation |
p.Asp948Glu(p.D948E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399982 |
| Start |
21401029:21401029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774260771
|
| CDS Mutation |
c.4216C>T |
| AA Mutation |
p.Arg1406Cys(p.R1406C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000399982 |
| Start |
21402429:21402429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368465266
|
| CDS Mutation |
c.3789C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000399982 |
| Start |
21408450:21408450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2592C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|