| Mutation ID |
41 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000354534 |
| Start |
51806295:51806295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4809A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
42 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000354534 |
| Start |
51684279:51684280(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.386dupT |
| AA Mutation |
p.Leu129PhefsTer7(p.L129Ffs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SCN8A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354534 |
| Start |
51706668:51706668(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761336234
|
| CDS Mutation |
c.1588C>T |
| AA Mutation |
p.Arg530Trp(p.R530W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354534 |
| Start |
51774301:51774301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3758C>A |
| AA Mutation |
p.Ala1253Asp(p.A1253D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354534 |
| Start |
51768952:51768952(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2989C>A |
| AA Mutation |
p.Leu997Ile(p.L997I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354534 |
| Start |
51762597:51762597(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2465G>A |
| AA Mutation |
p.Gly822Glu(p.G822E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354534 |
| Start |
51684279:51684279(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.382A>C |
| AA Mutation |
p.Ile128Leu(p.I128L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000354534 |
| Start |
51806757:51806757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752174650
|
| CDS Mutation |
c.5271C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|