| Mutation ID |
92 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181651336:181651336(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.952-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
93 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181721757:181721757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1957-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CACNA1E
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181798358:181798358(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6466C>T |
| AA Mutation |
p.Arg2156Cys(p.R2156C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181795011:181795011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750165512
|
| CDS Mutation |
c.6175C>T |
| AA Mutation |
p.Arg2059Trp(p.R2059W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181757061:181757061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4264A>C |
| AA Mutation |
p.Ile1422Leu(p.I1422L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181794988:181794988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6152G>A |
| AA Mutation |
p.Arg2051His(p.R2051H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181798445:181798445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs548645440
|
| CDS Mutation |
c.6553C>T |
| AA Mutation |
p.Pro2185Ser(p.P2185S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181785359:181785359(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5620A>T |
| AA Mutation |
p.Ile1874Phe(p.I1874F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181798567:181798567(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6675G>T |
| AA Mutation |
p.Gln2225His(p.Q2225H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181736363:181736363(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3351G>T |
| AA Mutation |
p.Lys1117Asn(p.K1117N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181776104:181776104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5143C>A |
| AA Mutation |
p.Leu1715Ile(p.L1715I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181785762:181785762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5729A>G |
| AA Mutation |
p.Glu1910Gly(p.E1910G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181763461:181763461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4745G>A |
| AA Mutation |
p.Arg1582His(p.R1582H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181794891:181794891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6055C>T |
| AA Mutation |
p.Arg2019Cys(p.R2019C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181755294:181755294(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3886T>C |
| AA Mutation |
p.Tyr1296His(p.Y1296H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181772193:181772193(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762078001
|
| CDS Mutation |
c.5101G>A |
| AA Mutation |
p.Val1701Met(p.V1701M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181721765:181721765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1964C>T |
| AA Mutation |
p.Thr655Met(p.T655M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181758835:181758835(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4572A>C |
| AA Mutation |
p.Glu1524Asp(p.E1524D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181732922:181732922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757105337
|
| CDS Mutation |
c.2836C>T |
| AA Mutation |
p.Arg946Cys(p.R946C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181794924:181794924(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6088A>G |
| AA Mutation |
p.Asn2030Asp(p.N2030D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181798600:181798600(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746438533
|
| CDS Mutation |
c.6708C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181757973:181757973(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs571237279
|
| CDS Mutation |
c.4356C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181790469:181790469(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5811G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000367573 |
| Start |
181785713:181785713(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5684delA |
| AA Mutation |
p.Asn1895MetfsTer35(p.N1895Mfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367573 |
| Start |
181732790:181732790(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2704G>T |
| AA Mutation |
p.Gly902Ter(p.G902*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|