| Mutation ID |
48 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000350061 |
| Start |
53665795:53665796(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.909dupT |
| AA Mutation |
p.Ala304CysfsTer2(p.A304Cfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
49 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000350061 |
| Start |
53749436:53749437(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3483_3484insCCAAGT |
| AA Mutation |
p.Lys1161_Glu1162insProSer(p.K1161_E1162insPS) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CACNA1D
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350061 |
| Start |
53751854:53751854(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3622G>A |
| AA Mutation |
p.Glu1208Lys(p.E1208K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350061 |
| Start |
53770500:53770500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3992G>A |
| AA Mutation |
p.Ser1331Asn(p.S1331N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350061 |
| Start |
53780102:53780102(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765670623
|
| CDS Mutation |
c.4664G>A |
| AA Mutation |
p.Arg1555Gln(p.R1555Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350061 |
| Start |
53802152:53802152(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754161736
|
| CDS Mutation |
c.5414G>A |
| AA Mutation |
p.Arg1805His(p.R1805H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350061 |
| Start |
53497431:53497431(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.347G>A |
| AA Mutation |
p.Arg116Gln(p.R116Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350061 |
| Start |
53749287:53749287(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771879305
|
| CDS Mutation |
c.3334G>A |
| AA Mutation |
p.Asp1112Asn(p.D1112N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000350061 |
| Start |
53650817:53650817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773161211
|
| CDS Mutation |
c.522C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000350061 |
| Start |
53811163:53811163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6243G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|