| Mutation ID |
66 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38597780:38597780(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2211G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
67 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38581135:38581135(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3024delC |
| AA Mutation |
p.Tyr1009ThrfsTer136(p.Y1009Tfs*136) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SCN5A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38605991:38605991(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1298G>A |
| AA Mutation |
p.Arg433His(p.R433H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38598959:38598959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1982G>A |
| AA Mutation |
p.Arg661Gln(p.R661Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38560335:38560335(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199473233
|
| CDS Mutation |
c.4057G>A |
| AA Mutation |
p.Val1353Met(p.V1353M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38562443:38562443(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3935G>T |
| AA Mutation |
p.Arg1312Ile(p.R1312I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38633183:38633183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.125G>T |
| AA Mutation |
p.Ser42Ile(p.S42I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38562519:38562519(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3859G>T |
| AA Mutation |
p.Val1287Leu(p.V1287L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38608193:38608193(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.956G>A |
| AA Mutation |
p.Gly319Asp(p.G319D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38550573:38550573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5799C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38603748:38603748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1854C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38555740:38555740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4458C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38554304:38554304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141789366
|
| CDS Mutation |
c.4788C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38585982:38585982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761287478
|
| CDS Mutation |
c.2496C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38598964:38598964(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1977G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333535 |
| Start |
38606017:38606017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267599794
|
| CDS Mutation |
c.1272C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|