| Mutation ID |
52 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000435607 |
| Start |
63941319:63941319(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4963A>T |
| AA Mutation |
p.Lys1655Ter(p.K1655*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
53 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000435607 |
| Start |
63949462:63949463(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2919dupC |
| AA Mutation |
p.Glu974ArgfsTer5(p.E974Rfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SCN4A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435607 |
| Start |
63972380:63972380(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150158100
|
| CDS Mutation |
c.364C>T |
| AA Mutation |
p.Arg122Cys(p.R122C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435607 |
| Start |
63943048:63943048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772704244
|
| CDS Mutation |
c.4066G>A |
| AA Mutation |
p.Asp1356Asn(p.D1356N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435607 |
| Start |
63972612:63972612(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.230G>A |
| AA Mutation |
p.Gly77Asp(p.G77D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435607 |
| Start |
63945597:63945597(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3483G>T |
| AA Mutation |
p.Met1161Ile(p.M1161I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435607 |
| Start |
63948024:63948024(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3184C>T |
| AA Mutation |
p.Arg1062Cys(p.R1062C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435607 |
| Start |
63957350:63957350(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113462659
|
| CDS Mutation |
c.2188G>A |
| AA Mutation |
p.Val730Met(p.V730M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000435607 |
| Start |
63941008:63941008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113418988
|
| CDS Mutation |
c.5274C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000435607 |
| Start |
63942851:63942851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267604989
|
| CDS Mutation |
c.4263C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000435607 |
| Start |
63948656:63948656(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753862870
|
| CDS Mutation |
c.3099C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|