| Mutation ID |
22 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40114596:40114597(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1696_1697insAACTGTGTA |
| AA Mutation |
p.Val566delinsGluLeuCysIle(p.V566delinsELCI) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000278198 |
| Start |
40115716:40115717(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.576_577insACAGTT |
| AA Mutation |
p.Ala192_Phe193insThrVal(p.A192_F193insTV) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LRRC4C
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40115211:40115211(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764899167
|
| CDS Mutation |
c.1082C>A |
| AA Mutation |
p.Ala361Glu(p.A361E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40115410:40115410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747329999
|
| CDS Mutation |
c.883C>T |
| AA Mutation |
p.Arg295Trp(p.R295W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40115899:40115899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.394T>G |
| AA Mutation |
p.Phe132Val(p.F132V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40114540:40114540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1753C>A |
| AA Mutation |
p.Leu585Met(p.L585M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40115218:40115218(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1075C>T |
| AA Mutation |
p.Pro359Ser(p.P359S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40115209:40115209(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1084G>T |
| AA Mutation |
p.Asp362Tyr(p.D362Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40115001:40115001(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1292C>G |
| AA Mutation |
p.Ser431Cys(p.S431C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40114507:40114507(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1786A>C |
| AA Mutation |
p.Asn596His(p.N596H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40115799:40115799(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.494C>A |
| AA Mutation |
p.Ser165Tyr(p.S165Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40115904:40115904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.389A>C |
| AA Mutation |
p.Glu130Ala(p.E130A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40116143:40116143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.150G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000278198 |
| Start |
40115327:40115327(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761334968
|
| CDS Mutation |
c.966G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|