| Mutation ID |
48 |
| Mutation Consequence |
inframe_insertion;splice_region_variant |
| Transcription ID |
ENST00000614701 |
| Start |
80657984:80657985(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6123_6125dupTAA |
| AA Mutation |
p.Asn2042dup(p.N2042dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
49 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000614701 |
| Start |
80673192:80673193(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6626_6627insGTCTTTGGA |
| AA Mutation |
p.Val2209_Phe2210insSerLeuAsp(p.V2209_F2210insSLD) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTPRQ
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614701 |
| Start |
80534925:80534925(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2873C>G |
| AA Mutation |
p.Ala958Gly(p.A958G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614701 |
| Start |
80613813:80613813(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5140G>T |
| AA Mutation |
p.Gly1714Cys(p.G1714C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614701 |
| Start |
80444383:80444383(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.38G>A |
| AA Mutation |
p.Gly13Glu(p.G13E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614701 |
| Start |
80444759:80444759(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.73G>A |
| AA Mutation |
p.Val25Ile(p.V25I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614701 |
| Start |
80669098:80669098(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6284C>T |
| AA Mutation |
p.Ala2095Val(p.A2095V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614701 |
| Start |
80495234:80495234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1745C>G |
| AA Mutation |
p.Ser582Cys(p.S582C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614701 |
| Start |
80444377:80444377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.32T>G |
| AA Mutation |
p.Phe11Cys(p.F11C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614701 |
| Start |
80472131:80472131(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1066G>T |
| AA Mutation |
p.Asp356Tyr(p.D356Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614701 |
| Start |
80588358:80588358(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4515G>T |
| AA Mutation |
p.Lys1505Asn(p.K1505N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000614701 |
| Start |
80541643:80541643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3243C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000614701 |
| Start |
80616262:80616262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5226C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000614701 |
| Start |
80678662:80678662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6799C>T |
| AA Mutation |
p.Gln2267Ter(p.Q2267*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|