| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000349014 |
| Start |
50891681:50891682(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3032dupC |
| AA Mutation |
p.Ala1012SerfsTer11(p.A1012Sfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000349014 |
| Start |
50892426:50892427(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2287dupT |
| AA Mutation |
p.Ser763PhefsTer3(p.S763Ffs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADNP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349014 |
| Start |
50894076:50894076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.638C>T |
| AA Mutation |
p.Ser213Leu(p.S213L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349014 |
| Start |
50891448:50891448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3266A>G |
| AA Mutation |
p.His1089Arg(p.H1089R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349014 |
| Start |
50891724:50891724(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2990C>A |
| AA Mutation |
p.Ser997Tyr(p.S997Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349014 |
| Start |
50892005:50892005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2709C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349014 |
| Start |
50893319:50893319(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375629425
|
| CDS Mutation |
c.1395C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000349014 |
| Start |
50893798:50893798(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.916C>T |
| AA Mutation |
p.Arg306Ter(p.R306*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000349014 |
| Start |
50903932:50903933(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.64dupA |
| AA Mutation |
p.Ile22AsnfsTer3(p.I22Nfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000349014 |
| Start |
50893482:50893511(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1203_1232delTCTCTCATCGGGCCAGTTAAAGTCTCCTTC |
| AA Mutation |
p.Ser404_Ser413del(p.S404_S413del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
|