| Mutation ID |
54 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2550034:2550034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778456186
|
| CDS Mutation |
c.1481+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
55 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2634296:2634296(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3973-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CACNA1C
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2679699:2679699(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781633980
|
| CDS Mutation |
c.5491G>A |
| AA Mutation |
p.Gly1831Ser(p.G1831S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2512859:2512859(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1265A>T |
| AA Mutation |
p.Gln422Leu(p.Q422L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2610634:2610634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3712T>C |
| AA Mutation |
p.Ser1238Pro(p.S1238P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2601888:2601888(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2948C>A |
| AA Mutation |
p.Ser983Tyr(p.S983Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2449097:2449097(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.599T>G |
| AA Mutation |
p.Phe200Cys(p.F200C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2582847:2582847(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2129C>T |
| AA Mutation |
p.Ser710Leu(p.S710L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2677161:2677161(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5040G>T |
| AA Mutation |
p.Lys1680Asn(p.K1680N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2567762:2567762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747010529
|
| CDS Mutation |
c.1863C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2457669:2457669(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs527755968
|
| CDS Mutation |
c.720C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2582863:2582863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2145G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2605702:2605702(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs566310000
|
| CDS Mutation |
c.3132C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2610645:2610645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369646222
|
| CDS Mutation |
c.3723C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2679506:2679506(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5302delC |
| AA Mutation |
p.Gln1768ArgfsTer120(p.Q1768Rfs*120) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000347598 |
| Start |
2504840:2504840(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1114-2delA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|