| Mutation ID |
26 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000346128 |
| Start |
29773318:29773318(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.124C>T |
| AA Mutation |
p.Arg42Ter(p.R42*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000346128 |
| Start |
29710829:29710829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4372+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TJP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346128 |
| Start |
29719970:29719970(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2810A>G |
| AA Mutation |
p.Asn937Ser(p.N937S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346128 |
| Start |
29718769:29718769(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3373G>C |
| AA Mutation |
p.Glu1125Gln(p.E1125Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346128 |
| Start |
29705738:29705738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4858G>C |
| AA Mutation |
p.Ala1620Pro(p.A1620P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346128 |
| Start |
29718930:29718930(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3212C>T |
| AA Mutation |
p.Ser1071Phe(p.S1071F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346128 |
| Start |
29705638:29705638(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4958G>A |
| AA Mutation |
p.Gly1653Asp(p.G1653D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346128 |
| Start |
29732480:29732480(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1970C>T |
| AA Mutation |
p.Ala657Val(p.A657V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000346128 |
| Start |
29766387:29766387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199932396
|
| CDS Mutation |
c.468G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000346128 |
| Start |
29708715:29708715(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4694C>A |
| AA Mutation |
p.Ser1565Ter(p.S1565*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000346128 |
| Start |
29732634:29732634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1918G>T |
| AA Mutation |
p.Glu640Ter(p.E640*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|