| Mutation ID |
57 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000354582 |
| Start |
4676679:4676679(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2845G>T |
| AA Mutation |
p.Gly949Ter(p.G949*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
58 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000354582 |
| Start |
4788112:4788112(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6781G>T |
| AA Mutation |
p.Glu2261Ter(p.E2261*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITPR1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4800592:4800592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201144431
|
| CDS Mutation |
c.7099G>A |
| AA Mutation |
p.Ala2367Thr(p.A2367T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4688609:4688609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3817C>A |
| AA Mutation |
p.Leu1273Ile(p.L1273I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4663076:4663076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1424A>G |
| AA Mutation |
p.Lys475Arg(p.K475R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4691278:4691278(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3963C>A |
| AA Mutation |
p.Phe1321Leu(p.F1321L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4779607:4779607(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6349G>A |
| AA Mutation |
p.Ala2117Thr(p.A2117T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4658160:4658160(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369055445
|
| CDS Mutation |
c.1033C>T |
| AA Mutation |
p.Arg345Trp(p.R345W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4693539:4693539(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4079C>A |
| AA Mutation |
p.Ser1360Tyr(p.S1360Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4766546:4766546(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375517463
|
| CDS Mutation |
c.5561G>A |
| AA Mutation |
p.Arg1854His(p.R1854H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4775410:4775410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6148G>A |
| AA Mutation |
p.Glu2050Lys(p.E2050K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4813150:4813150(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775129963
|
| CDS Mutation |
c.7477G>A |
| AA Mutation |
p.Glu2493Lys(p.E2493K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4815056:4815056(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7705C>T |
| AA Mutation |
p.Pro2569Ser(p.P2569S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4688552:4688552(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3760T>G |
| AA Mutation |
p.Phe1254Val(p.F1254V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4795119:4795119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6863C>T |
| AA Mutation |
p.Ser2288Leu(p.S2288L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000354582 |
| Start |
4644201:4644201(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760188389
|
| CDS Mutation |
c.591C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000354582 |
| Start |
4680610:4680610(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3025C>T |
| AA Mutation |
p.Arg1009Ter(p.R1009*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|