| Mutation ID |
29 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370398 |
| Start |
73042005:73042005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.559C>T |
| AA Mutation |
p.Arg187Ter(p.R187*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370398 |
| Start |
73077361:73077362(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.661dupA |
| AA Mutation |
p.Thr221AsnfsTer4(p.T221Nfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KCNQ5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370398 |
| Start |
73194726:73194726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776285517
|
| CDS Mutation |
c.2111C>T |
| AA Mutation |
p.Ala704Val(p.A704V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370398 |
| Start |
73077400:73077400(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.695G>A |
| AA Mutation |
p.Arg232Lys(p.R232K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370398 |
| Start |
73195341:73195341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs184951305
|
| CDS Mutation |
c.2726G>A |
| AA Mutation |
p.Arg909Gln(p.R909Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370398 |
| Start |
73195261:73195261(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2646G>T |
| AA Mutation |
p.Glu882Asp(p.E882D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370398 |
| Start |
73077436:73077436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.731G>A |
| AA Mutation |
p.Arg244His(p.R244H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370398 |
| Start |
73133431:73133431(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1258A>C |
| AA Mutation |
p.Ser420Arg(p.S420R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000370398 |
| Start |
73124512:73124512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1247G>T |
| AA Mutation |
p.Ser416Ile(p.S416I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370398 |
| Start |
73194568:73194568(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1953T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|