| Mutation ID |
17 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000256343 |
| Start |
91723075:91723076(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.264_282dupCATGAATAGTACATATAAT |
| AA Mutation |
p.Gly95HisfsTer3(p.G95Hfs*3) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000256343 |
| Start |
91708144:91708144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779893104
|
| CDS Mutation |
c.463C>T |
| AA Mutation |
p.Arg155Ter(p.R155*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CATSPERB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256343 |
| Start |
91669836:91669836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1265T>G |
| AA Mutation |
p.Phe422Cys(p.F422C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256343 |
| Start |
91672937:91672937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1058T>C |
| AA Mutation |
p.Ile353Thr(p.I353T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256343 |
| Start |
91581095:91581095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3145G>A |
| AA Mutation |
p.Glu1049Lys(p.E1049K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256343 |
| Start |
91588051:91588051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2984G>T |
| AA Mutation |
p.Arg995Ile(p.R995I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256343 |
| Start |
91591963:91591963(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765894114
|
| CDS Mutation |
c.2749C>T |
| AA Mutation |
p.Arg917Trp(p.R917W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256343 |
| Start |
91621843:91621843(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2025G>T |
| AA Mutation |
p.Lys675Asn(p.K675N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256343 |
| Start |
91659913:91659913(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1356G>T |
| AA Mutation |
p.Lys452Asn(p.K452N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256343 |
| Start |
91725119:91725119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.129G>T |
| AA Mutation |
p.Glu43Asp(p.E43D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256343 |
| Start |
91621742:91621742(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140842196
|
| CDS Mutation |
c.2126G>A |
| AA Mutation |
p.Arg709Gln(p.R709Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000256343 |
| Start |
91723052:91723052(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.306G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000256343 |
| Start |
91636460:91636460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145122456
|
| CDS Mutation |
c.1707C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|