| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375401 |
| Start |
53193494:53193494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4260G>A |
| AA Mutation |
p.Trp1420Ter(p.W1420*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000375401 |
| Start |
53201604:53201606(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2005_2007delGAG |
| AA Mutation |
p.Glu669del(p.E669del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KDM5C
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000375401 |
| Start |
53198978:53198978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2242C>T |
| AA Mutation |
p.Arg748Trp(p.R748W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375401 |
| Start |
53218368:53218368(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.259G>A |
| AA Mutation |
p.Asp87Asn(p.D87N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|