| Mutation ID |
46 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000328252 |
| Start |
116302813:116302814(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3016dupA |
| AA Mutation |
p.Thr1006AsnfsTer4(p.T1006Nfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
47 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000328252 |
| Start |
116382495:116382495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4776+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PAPPA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000328252 |
| Start |
116271327:116271327(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2864A>G |
| AA Mutation |
p.Asp955Gly(p.D955G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328252 |
| Start |
116353680:116353680(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4234C>A |
| AA Mutation |
p.Pro1412Thr(p.P1412T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328252 |
| Start |
116331278:116331278(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3182G>A |
| AA Mutation |
p.Gly1061Asp(p.G1061D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328252 |
| Start |
116347189:116347189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs116551272
|
| CDS Mutation |
c.3944G>A |
| AA Mutation |
p.Arg1315His(p.R1315H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328252 |
| Start |
116227540:116227540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2221C>T |
| AA Mutation |
p.Arg741Cys(p.R741C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328252 |
| Start |
116227538:116227538(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2219C>A |
| AA Mutation |
p.Pro740His(p.P740H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000328252 |
| Start |
116331355:116331355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762183020
|
| CDS Mutation |
c.3259C>T |
| AA Mutation |
p.Arg1087Trp(p.R1087W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328252 |
| Start |
116353681:116353681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4235C>T |
| AA Mutation |
p.Pro1412Leu(p.P1412L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000328252 |
| Start |
116265965:116265965(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2841T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000328252 |
| Start |
116188082:116188082(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145700256
|
| CDS Mutation |
c.1344C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000328252 |
| Start |
116271389:116271389(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2926C>T |
| AA Mutation |
p.Arg976Ter(p.R976*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000328252 |
| Start |
116271395:116271395(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2932G>T |
| AA Mutation |
p.Glu978Ter(p.E978*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|