| Mutation ID |
29 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000284049 |
| Start |
98879550:98879550(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3237+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000284049 |
| Start |
98901004:98901005(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.663_665dupTGA |
| AA Mutation |
p.Asp221dup(p.D221dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284049 |
| Start |
98876501:98876501(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3295G>C |
| AA Mutation |
p.Asp1099His(p.D1099H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284049 |
| Start |
98856641:98856641(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4872A>C |
| AA Mutation |
p.Lys1624Asn(p.K1624N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284049 |
| Start |
98888189:98888189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2395C>T |
| AA Mutation |
p.Arg799Cys(p.R799C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284049 |
| Start |
98872144:98872144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3768A>C |
| AA Mutation |
p.Glu1256Asp(p.E1256D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284049 |
| Start |
98900981:98900981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.689G>T |
| AA Mutation |
p.Arg230Ile(p.R230I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000284049 |
| Start |
98856485:98856485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5028G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|