| Mutation ID |
49 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53226394:53226395(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1932dupA |
| AA Mutation |
p.Tyr645IlefsTer11(p.Y645Ifs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
50 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53324320:53324321(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8119_8120insC |
| AA Mutation |
p.Met2707ThrfsTer40(p.M2707Tfs*40) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHD9
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53249885:53249885(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3680G>A |
| AA Mutation |
p.Arg1227Gln(p.R1227Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53238491:53238491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs549002484
|
| CDS Mutation |
c.2782C>T |
| AA Mutation |
p.Arg928Cys(p.R928C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53324306:53324306(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8105G>A |
| AA Mutation |
p.Gly2702Glu(p.G2702E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53292935:53292935(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5393A>G |
| AA Mutation |
p.Asn1798Ser(p.N1798S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53226451:53226451(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1982C>A |
| AA Mutation |
p.Ser661Tyr(p.S661Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53324747:53324747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8546T>G |
| AA Mutation |
p.Ile2849Ser(p.I2849S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53297141:53297141(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs181111349
|
| CDS Mutation |
c.5696G>A |
| AA Mutation |
p.Arg1899His(p.R1899H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53308837:53308837(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7205A>C |
| AA Mutation |
p.Lys2402Thr(p.K2402T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53247378:53247378(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3540T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53304006:53304006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6000C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000398510 |
| Start |
53308791:53308791(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7159C>T |
| AA Mutation |
p.Arg2387Ter(p.R2387*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000398510 |
| Start |
53321585:53321586(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7774dupG |
| AA Mutation |
p.Glu2592GlyfsTer7(p.E2592Gfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|