| Mutation ID |
55 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1644636:1644637(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3724_3725insCT |
| AA Mutation |
p.Arg1242ProfsTer22(p.R1242Pfs*22) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
56 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1638979:1638979(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4074-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PXDN
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1661009:1661009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1709A>C |
| AA Mutation |
p.Lys570Thr(p.K570T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1663721:1663721(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1451C>T |
| AA Mutation |
p.Ser484Leu(p.S484L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1648298:1648298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3482G>A |
| AA Mutation |
p.Arg1161Gln(p.R1161Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1648807:1648807(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2973G>T |
| AA Mutation |
p.Trp991Cys(p.W991C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1648224:1648224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199680670
|
| CDS Mutation |
c.3556G>A |
| AA Mutation |
p.Glu1186Lys(p.E1186K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1649366:1649366(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781527729
|
| CDS Mutation |
c.2414C>T |
| AA Mutation |
p.Thr805Met(p.T805M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1673783:1673783(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758869617
|
| CDS Mutation |
c.878G>A |
| AA Mutation |
p.Arg293His(p.R293H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1644714:1644714(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368633299
|
| CDS Mutation |
c.3647C>T |
| AA Mutation |
p.Ala1216Val(p.A1216V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1663673:1663673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1499A>G |
| AA Mutation |
p.Tyr500Cys(p.Y500C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1649146:1649146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750398617
|
| CDS Mutation |
c.2634C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1648717:1648717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3063C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1649596:1649596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766598025
|
| CDS Mutation |
c.2184C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1648225:1648225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3555C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1649617:1649617(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2163G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000252804 |
| Start |
1649188:1649188(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2592delC |
| AA Mutation |
p.Asn865MetfsTer25(p.N865Mfs*25) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000252804 |
| Start |
1649427:1649427(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2353C>T |
| AA Mutation |
p.Arg785Ter(p.R785*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000252804 |
| Start |
1653703:1653703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2029G>T |
| AA Mutation |
p.Glu677Ter(p.E677*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|