| Mutation ID |
42 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000231130 |
| Start |
141101505:141101505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.856G>T |
| AA Mutation |
p.Glu286Ter(p.E286*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
43 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000231130 |
| Start |
141100761:141100762(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.117dupA |
| AA Mutation |
p.Glu40ArgfsTer44(p.E40Rfs*44) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PCDHB3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231130 |
| Start |
141101872:141101872(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1223C>T |
| AA Mutation |
p.Ala408Val(p.A408V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231130 |
| Start |
141101997:141101997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1348G>A |
| AA Mutation |
p.Ala450Thr(p.A450T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231130 |
| Start |
141100998:141100998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374613377
|
| CDS Mutation |
c.349G>A |
| AA Mutation |
p.Val117Ile(p.V117I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231130 |
| Start |
141101723:141101723(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1074G>T |
| AA Mutation |
p.Glu358Asp(p.E358D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231130 |
| Start |
141102892:141102892(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2243G>A |
| AA Mutation |
p.Ser748Asn(p.S748N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231130 |
| Start |
141102989:141102989(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2340G>T |
| AA Mutation |
p.Glu780Asp(p.E780D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000231130 |
| Start |
141102308:141102308(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1659C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000231130 |
| Start |
141102071:141102071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782172125
|
| CDS Mutation |
c.1422C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000231130 |
| Start |
141102773:141102773(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2124C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000231130 |
| Start |
141100947:141100947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.298G>T |
| AA Mutation |
p.Glu100Ter(p.E100*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000231130 |
| Start |
141101508:141101508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.859G>T |
| AA Mutation |
p.Glu287Ter(p.E287*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000231130 |
| Start |
141101865:141101865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1216G>T |
| AA Mutation |
p.Glu406Ter(p.E406*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|