| Mutation ID |
53 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000263967 |
| Start |
179210283:179210294(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1351_1362delGGATTAGAAGAT |
| AA Mutation |
p.Gly451_Asp454del(p.G451_D454del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
54 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000263967 |
| Start |
179203724:179203725(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1000_1023dupCTCAGAATAAAAATTCTTTGTGCA |
| AA Mutation |
p.Leu334_Ala341dup(p.L334_A341dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PIK3CA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179218306:179218306(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121913286
|
| CDS Mutation |
c.1636C>A |
| AA Mutation |
p.Gln546Lys(p.Q546K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179218304:179218304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121913274
|
| CDS Mutation |
c.1634A>G |
| AA Mutation |
p.Glu545Gly(p.E545G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179218303:179218303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs104886003
|
| CDS Mutation |
c.1633G>A |
| AA Mutation |
p.Glu545Lys(p.E545K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179210438:179210438(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1412C>T |
| AA Mutation |
p.Pro471Leu(p.P471L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179199088:179199088(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121913287
|
| CDS Mutation |
c.263G>A |
| AA Mutation |
p.Arg88Gln(p.R88Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179201499:179201499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.772G>A |
| AA Mutation |
p.Asp258Asn(p.D258N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179218307:179218307(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs397517201
|
| CDS Mutation |
c.1637A>G |
| AA Mutation |
p.Gln546Arg(p.Q546R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179230291:179230291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2851C>T |
| AA Mutation |
p.Arg951Cys(p.R951C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179221146:179221146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2176G>A |
| AA Mutation |
p.Glu726Lys(p.E726K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179234297:179234297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121913279
|
| CDS Mutation |
c.3140A>G |
| AA Mutation |
p.His1047Arg(p.H1047R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179218306:179218306(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121913286
|
| CDS Mutation |
c.1636C>G |
| AA Mutation |
p.Gln546Glu(p.Q546E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179199142:179199142(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.317G>T |
| AA Mutation |
p.Gly106Val(p.G106V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179199169:179199169(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.344G>C |
| AA Mutation |
p.Arg115Pro(p.R115P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179210186:179210186(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs397517199
|
| CDS Mutation |
c.1252G>A |
| AA Mutation |
p.Glu418Lys(p.E418K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179203761:179203761(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1031T>G |
| AA Mutation |
p.Val344Gly(p.V344G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179203741:179203741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1011A>C |
| AA Mutation |
p.Lys337Asn(p.K337N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000263967 |
| Start |
179198876:179198877(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.56_82dupGAATCCTAGTAGAATGTTTACTACCAA |
| AA Mutation |
p.Arg19_Pro27dup(p.R19_P27dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
|