| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000395125 |
| Start |
59359476:59359476(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148831209
|
| CDS Mutation |
c.2635C>T |
| AA Mutation |
p.Arg879Ter(p.R879*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000395125 |
| Start |
59367574:59367575(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3002_3003insTGGTTTTAAG |
| AA Mutation |
p.Glu1001AspfsTer18(p.E1001Dfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DAAM1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395125 |
| Start |
59352583:59352583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs570446187
|
| CDS Mutation |
c.2248G>A |
| AA Mutation |
p.Glu750Lys(p.E750K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395125 |
| Start |
59367583:59367583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3011C>T |
| AA Mutation |
p.Ala1004Val(p.A1004V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000395125 |
| Start |
59359399:59359399(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2558A>G |
| AA Mutation |
p.Asn853Ser(p.N853S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395125 |
| Start |
59331840:59331840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139553997
|
| CDS Mutation |
c.1888G>A |
| AA Mutation |
p.Glu630Lys(p.E630K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395125 |
| Start |
59263562:59263562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755736083
|
| CDS Mutation |
c.85C>T |
| AA Mutation |
p.Arg29Trp(p.R29W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000395125 |
| Start |
59291247:59291247(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.214G>T |
| AA Mutation |
p.Glu72Ter(p.E72*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|