| Mutation ID |
44 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000332175 |
| Start |
8069841:8069841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1288C>T |
| AA Mutation |
p.Arg430Ter(p.R430*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
45 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000332175 |
| Start |
8387237:8387237(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4169+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTPRM
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332175 |
| Start |
8371002:8371002(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3128A>G |
| AA Mutation |
p.Glu1043Gly(p.E1043G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332175 |
| Start |
8394507:8394507(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142178302
|
| CDS Mutation |
c.4201G>A |
| AA Mutation |
p.Ala1401Thr(p.A1401T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332175 |
| Start |
8085828:8085828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1709G>A |
| AA Mutation |
p.Gly570Asp(p.G570D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332175 |
| Start |
7774265:7774265(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.190C>T |
| AA Mutation |
p.Pro64Ser(p.P64S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332175 |
| Start |
8069985:8069985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1432G>T |
| AA Mutation |
p.Asp478Tyr(p.D478Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332175 |
| Start |
7888352:7888352(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.443G>T |
| AA Mutation |
p.Ser148Ile(p.S148I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332175 |
| Start |
7926620:7926620(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.600G>C |
| AA Mutation |
p.Gln200His(p.Q200H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332175 |
| Start |
8085747:8085747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1628G>A |
| AA Mutation |
p.Gly543Glu(p.G543E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332175 |
| Start |
8253338:8253338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2639T>C |
| AA Mutation |
p.Ile880Thr(p.I880T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332175 |
| Start |
8069733:8069733(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770908081
|
| CDS Mutation |
c.1180C>T |
| AA Mutation |
p.Arg394Trp(p.R394W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332175 |
| Start |
8384565:8384565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3884G>T |
| AA Mutation |
p.Cys1295Phe(p.C1295F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000332175 |
| Start |
7949348:7949348(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.831A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000332175 |
| Start |
8394506:8394506(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377577785
|
| CDS Mutation |
c.4200C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|