| Mutation ID |
38 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198734327:198734327(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2180-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
39 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000442510 |
| Start |
198752673:198752674(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3410_3411insGAAGAG |
| AA Mutation |
p.Leu1137_Ile1138insLysArg(p.L1137_I1138insKR) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTPRC
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198709794:198709794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776036789
|
| CDS Mutation |
c.1141G>A |
| AA Mutation |
p.Ala381Thr(p.A381T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198754301:198754301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3542C>T |
| AA Mutation |
p.Ala1181Val(p.A1181V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198696760:198696760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.149T>C |
| AA Mutation |
p.Leu50Ser(p.L50S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198699690:198699690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.425G>A |
| AA Mutation |
p.Ser142Asn(p.S142N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198752316:198752316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3275A>G |
| AA Mutation |
p.Asp1092Gly(p.D1092G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198696735:198696735(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.124A>G |
| AA Mutation |
p.Ser42Gly(p.S42G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198716795:198716795(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1405C>T |
| AA Mutation |
p.Arg469Cys(p.R469C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198709770:198709770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1117T>C |
| AA Mutation |
p.Tyr373His(p.Y373H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198741956:198741956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2491C>T |
| AA Mutation |
p.Leu831Phe(p.L831F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198699605:198699605(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.340G>T |
| AA Mutation |
p.Asp114Tyr(p.D114Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198752716:198752716(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3453G>T |
| AA Mutation |
p.Lys1151Asn(p.K1151N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198755981:198755981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3721C>A |
| AA Mutation |
p.His1241Asn(p.H1241N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198754296:198754296(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3537T>G |
| AA Mutation |
p.Phe1179Leu(p.F1179L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198754403:198754403(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3644T>G |
| AA Mutation |
p.Phe1215Cys(p.F1215C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198703347:198703347(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772410895
|
| CDS Mutation |
c.633C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000442510 |
| Start |
198716763:198716763(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1373C>A |
| AA Mutation |
p.Ser458Ter(p.S458*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000442510 |
| Start |
198741875:198741875(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2410G>T |
| AA Mutation |
p.Glu804Ter(p.E804*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|