| Mutation ID |
37 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2928689:2928689(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs764030673
|
| CDS Mutation |
c.1663delC |
| AA Mutation |
p.Arg555GlyfsTer45(p.R555Gfs*45) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
38 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000396946 |
| Start |
2944481:2944481(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.415C>T |
| AA Mutation |
p.Gln139Ter(p.Q139*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CARD11
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2906801:2906801(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751651073
|
| CDS Mutation |
c.3302G>A |
| AA Mutation |
p.Arg1101His(p.R1101H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2918520:2918520(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368181734
|
| CDS Mutation |
c.2578G>A |
| AA Mutation |
p.Gly860Ser(p.G860S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2926766:2926766(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs567929694
|
| CDS Mutation |
c.1780G>A |
| AA Mutation |
p.Gly594Ser(p.G594S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2906660:2906660(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3443G>C |
| AA Mutation |
p.Trp1148Ser(p.W1148S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2915299:2915299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755425231
|
| CDS Mutation |
c.2777C>T |
| AA Mutation |
p.Pro926Leu(p.P926L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2923319:2923319(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1955C>T |
| AA Mutation |
p.Ser652Leu(p.S652L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2937986:2937986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1064G>T |
| AA Mutation |
p.Gly355Val(p.G355V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2932541:2932541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1564T>G |
| AA Mutation |
p.Phe522Val(p.F522V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2934600:2934600(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1371C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2919434:2919434(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748539189
|
| CDS Mutation |
c.2448C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2917323:2917323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146545469
|
| CDS Mutation |
c.2670G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2913393:2913393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61757651
|
| CDS Mutation |
c.2913C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2937157:2937157(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1221C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000396946 |
| Start |
2928689:2928689(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs764030673
|
| CDS Mutation |
c.1663delC |
| AA Mutation |
p.Arg555GlyfsTer45(p.R555Gfs*45) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000396946 |
| Start |
2923212:2923212(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2062C>T |
| AA Mutation |
p.Arg688Ter(p.R688*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|