| Mutation ID |
32 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000286628 |
| Start |
76887484:76887484(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3493G>T |
| AA Mutation |
p.Glu1165Ter(p.E1165*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000286628 |
| Start |
77073247:77073266(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1594-14_1599delTTTTCTTTCCCCAGGCCCAT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KCNMA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286628 |
| Start |
77637494:77637494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.149C>A |
| AA Mutation |
p.Ser50Tyr(p.S50Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286628 |
| Start |
77184867:77184867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.652G>A |
| AA Mutation |
p.Asp218Asn(p.D218N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286628 |
| Start |
76909991:76909991(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3122G>A |
| AA Mutation |
p.Ser1041Asn(p.S1041N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286628 |
| Start |
77039602:77039602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1785A>C |
| AA Mutation |
p.Glu595Asp(p.E595D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286628 |
| Start |
77110338:77110338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371551843
|
| CDS Mutation |
c.966G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286628 |
| Start |
77086521:77086521(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370862113
|
| CDS Mutation |
c.1407C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286628 |
| Start |
77001480:77001480(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780566555
|
| CDS Mutation |
c.2193C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286628 |
| Start |
76949304:76949304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147369374
|
| CDS Mutation |
c.2547C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000286628 |
| Start |
77012033:77012033(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs762705295
|
| CDS Mutation |
c.2026delT |
| AA Mutation |
p.Tyr676ThrfsTer15(p.Y676Tfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000604624 |
| Start |
76877886:76877886(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763110311
|
| CDS Mutation |
c.3112G>T |
| AA Mutation |
p.Glu1038Ter(p.E1038*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000286628 |
| Start |
77184909:77184909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.610G>T |
| AA Mutation |
p.Glu204Ter(p.E204*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|