| Mutation ID |
51 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77599821:77599821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5698-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
52 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000373344 |
| Start |
77684364:77684366(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.890_892delAGA |
| AA Mutation |
p.Lys297del(p.K297del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATRX
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77683925:77683925(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781932965
|
| CDS Mutation |
c.1331G>A |
| AA Mutation |
p.Arg444Gln(p.R444Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77688876:77688876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs398123425
|
| CDS Mutation |
c.536A>G |
| AA Mutation |
p.Asn179Ser(p.N179S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77681573:77681573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3683C>A |
| AA Mutation |
p.Pro1228His(p.P1228H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77508449:77508449(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7381C>G |
| AA Mutation |
p.Gln2461Glu(p.Q2461E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77522300:77522300(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6938T>C |
| AA Mutation |
p.Leu2313Ser(p.L2313S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77616701:77616701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5478C>A |
| AA Mutation |
p.Phe1826Leu(p.F1826L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77682000:77682000(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3256G>A |
| AA Mutation |
p.Ala1086Thr(p.A1086T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77681612:77681612(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3644C>A |
| AA Mutation |
p.Ser1215Tyr(p.S1215Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77681755:77681755(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3501G>T |
| AA Mutation |
p.Lys1167Asn(p.K1167N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77682061:77682061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3195G>T |
| AA Mutation |
p.Glu1065Asp(p.E1065D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77682914:77682914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2342G>A |
| AA Mutation |
p.Arg781Gln(p.R781Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77683950:77683950(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1306G>T |
| AA Mutation |
p.Asp436Tyr(p.D436Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77633347:77633347(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4994G>T |
| AA Mutation |
p.Arg1665Ile(p.R1665I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77683527:77683527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1729A>C |
| AA Mutation |
p.Lys577Gln(p.K577Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77683803:77683803(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1453A>C |
| AA Mutation |
p.Thr485Pro(p.T485P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373344 |
| Start |
77682559:77682559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs137974888
|
| CDS Mutation |
c.2697G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373344 |
| Start |
77654139:77654139(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4276C>T |
| AA Mutation |
p.Arg1426Ter(p.R1426*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373344 |
| Start |
77664753:77664753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3835G>T |
| AA Mutation |
p.Glu1279Ter(p.E1279*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|