| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70744126:70744126(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2123delG |
| AA Mutation |
p.Gly708ValfsTer9(p.G708Vfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373207 |
| Start |
70735224:70735224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1408G>T |
| AA Mutation |
p.Glu470Ter(p.E470*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADAMTS14
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70749896:70749896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780861873
|
| CDS Mutation |
c.2338G>A |
| AA Mutation |
p.Ala780Thr(p.A780T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70749876:70749876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2318C>T |
| AA Mutation |
p.Ala773Val(p.A773V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70758050:70758050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3026G>T |
| AA Mutation |
p.Arg1009Met(p.R1009M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70760659:70760659(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3478C>A |
| AA Mutation |
p.Pro1160Thr(p.P1160T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70708602:70708602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.694G>T |
| AA Mutation |
p.Asp232Tyr(p.D232Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70735289:70735289(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1473G>T |
| AA Mutation |
p.Gln491His(p.Q491H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70708713:70708713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147652549
|
| CDS Mutation |
c.805G>A |
| AA Mutation |
p.Asp269Asn(p.D269N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70741100:70741100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757459157
|
| CDS Mutation |
c.1862G>A |
| AA Mutation |
p.Arg621His(p.R621H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70702389:70702389(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746335847
|
| CDS Mutation |
c.600C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70674662:70674662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.189C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70702338:70702338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.549C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70733954:70733954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746967690
|
| CDS Mutation |
c.1278G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|