| Mutation ID |
27 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264638 |
| Start |
42688467:42688467(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781513422
|
| CDS Mutation |
c.1312C>T |
| AA Mutation |
p.Arg438Ter(p.R438*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264638 |
| Start |
42685388:42685389(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.688dupG |
| AA Mutation |
p.Ala230GlyfsTer31(p.A230Gfs*31) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CNTNAP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264638 |
| Start |
42698756:42698756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4001T>C |
| AA Mutation |
p.Leu1334Pro(p.L1334P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264638 |
| Start |
42695556:42695556(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3028C>T |
| AA Mutation |
p.Arg1010Cys(p.R1010C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264638 |
| Start |
42685352:42685352(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.647A>G |
| AA Mutation |
p.Glu216Gly(p.E216G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264638 |
| Start |
42691976:42691976(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757375034
|
| CDS Mutation |
c.2515C>T |
| AA Mutation |
p.Arg839Trp(p.R839W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264638 |
| Start |
42691501:42691501(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2334C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000264638 |
| Start |
42684990:42684990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.364-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|