| Mutation ID |
19 |
| Mutation Consequence |
splice_donor_variant;coding_sequence_variant |
| Transcription ID |
ENST00000287394 |
| Start |
123371235:123371237(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.638_639+1delAAG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000287394 |
| Start |
123369955:123369963(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs777301503
|
| CDS Mutation |
c.789_797delAGATGATGA |
| AA Mutation |
p.Glu263_Asp265del(p.E263_D265del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATAD2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000287394 |
| Start |
123369060:123369060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1047C>G |
| AA Mutation |
p.Asn349Lys(p.N349K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287394 |
| Start |
123371724:123371724(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.482G>T |
| AA Mutation |
p.Arg161Ile(p.R161I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287394 |
| Start |
123337746:123337746(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759693662
|
| CDS Mutation |
c.2930G>A |
| AA Mutation |
p.Arg977Gln(p.R977Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287394 |
| Start |
123328240:123328240(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3818A>C |
| AA Mutation |
p.Asp1273Ala(p.D1273A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287394 |
| Start |
123337662:123337662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768509548
|
| CDS Mutation |
c.3014G>A |
| AA Mutation |
p.Arg1005Gln(p.R1005Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287394 |
| Start |
123371739:123371739(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.467G>A |
| AA Mutation |
p.Arg156Gln(p.R156Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000287394 |
| Start |
123371251:123371251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.624T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000287394 |
| Start |
123344947:123344947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2655T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000287394 |
| Start |
123336400:123336400(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3184G>T |
| AA Mutation |
p.Glu1062Ter(p.E1062*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|