| Mutation ID |
72 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000360184 |
| Start |
102004684:102004684(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5049+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
73 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000360184 |
| Start |
102042227:102042227(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12215-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DYNC1H1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360184 |
| Start |
102000962:102000962(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4083A>C |
| AA Mutation |
p.Gln1361His(p.Q1361H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000360184 |
| Start |
102010277:102010277(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6223C>G |
| AA Mutation |
p.Leu2075Val(p.L2075V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360184 |
| Start |
101995071:101995071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs587780331
|
| CDS Mutation |
c.3419C>T |
| AA Mutation |
p.Thr1140Met(p.T1140M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360184 |
| Start |
101997146:101997146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3676C>T |
| AA Mutation |
p.Arg1226Trp(p.R1226W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360184 |
| Start |
102015123:102015123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7033G>C |
| AA Mutation |
p.Val2345Leu(p.V2345L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360184 |
| Start |
102016429:102016429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7554C>G |
| AA Mutation |
p.Ile2518Met(p.I2518M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360184 |
| Start |
101986140:101986140(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1915C>T |
| AA Mutation |
p.Arg639Cys(p.R639C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360184 |
| Start |
102027516:102027516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs797045537
|
| CDS Mutation |
c.9020G>A |
| AA Mutation |
p.Arg3007Gln(p.R3007Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360184 |
| Start |
102027662:102027662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9092C>T |
| AA Mutation |
p.Thr3031Met(p.T3031M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360184 |
| Start |
102033135:102033135(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.10150C>T |
| AA Mutation |
p.Arg3384Trp(p.R3384W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000360184 |
| Start |
102048517:102048517(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.13220A>G |
| AA Mutation |
p.Asp4407Gly(p.D4407G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360184 |
| Start |
102015299:102015299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7209T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360184 |
| Start |
102004575:102004575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748301926
|
| CDS Mutation |
c.4941C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360184 |
| Start |
102027995:102027995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9322G>T |
| AA Mutation |
p.Glu3108Ter(p.E3108*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|