| Mutation ID |
45 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000373233 |
| Start |
41405491:41405491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7252-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
46 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000373233 |
| Start |
41404593:41404593(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8148G>T |
| AA Mutation |
p.Ter2716TyrextTer12(p.*2716Yext*12) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHD6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373233 |
| Start |
41405408:41405408(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7333C>G |
| AA Mutation |
p.Arg2445Gly(p.R2445G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000373233 |
| Start |
41498169:41498169(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.973T>G |
| AA Mutation |
p.Phe325Val(p.F325V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373233 |
| Start |
41483384:41483384(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2393G>A |
| AA Mutation |
p.Gly798Asp(p.G798D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373233 |
| Start |
41416755:41416755(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753612503
|
| CDS Mutation |
c.6319G>A |
| AA Mutation |
p.Val2107Met(p.V2107M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373233 |
| Start |
41422001:41422001(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4634T>C |
| AA Mutation |
p.Leu1545Ser(p.L1545S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373233 |
| Start |
41483415:41483415(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2362A>T |
| AA Mutation |
p.Ile788Phe(p.I788F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373233 |
| Start |
41493602:41493602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1250A>G |
| AA Mutation |
p.Asp417Gly(p.D417G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373233 |
| Start |
41425222:41425222(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4302G>C |
| AA Mutation |
p.Arg1434Ser(p.R1434S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373233 |
| Start |
41405169:41405169(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7572C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373233 |
| Start |
41417263:41417263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6214C>T |
| AA Mutation |
p.Arg2072Ter(p.R2072*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373233 |
| Start |
41457284:41457284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2809C>T |
| AA Mutation |
p.Arg937Ter(p.R937*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373233 |
| Start |
41421095:41421095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5540T>G |
| AA Mutation |
p.Leu1847Ter(p.L1847*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|