| Mutation ID |
11 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000405006 |
| Start |
43574809:43574811(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1254_1256delTCT |
| AA Mutation |
p.Leu419del(p.L419del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000405006 |
| Start |
43560337:43560338(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2359_2360insTGCTGATAGAAA |
| AA Mutation |
p.Arg787delinsLeuLeuIleGluSer(p.R787delinsLLIES) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> THADA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000405006 |
| Start |
43279896:43279896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5165A>G |
| AA Mutation |
p.Glu1722Gly(p.E1722G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405006 |
| Start |
43577223:43577223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369231765
|
| CDS Mutation |
c.836G>A |
| AA Mutation |
p.Arg279His(p.R279H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405006 |
| Start |
43344140:43344140(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4325A>G |
| AA Mutation |
p.Lys1442Arg(p.K1442R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405006 |
| Start |
43581918:43581918(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs527902461
|
| CDS Mutation |
c.544G>A |
| AA Mutation |
p.Gly182Arg(p.G182R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405006 |
| Start |
43571853:43571853(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1918G>T |
| AA Mutation |
p.Asp640Tyr(p.D640Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405006 |
| Start |
43577218:43577218(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.841G>A |
| AA Mutation |
p.Val281Met(p.V281M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405006 |
| Start |
43590937:43590937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.189G>T |
| AA Mutation |
p.Glu63Asp(p.E63D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405006 |
| Start |
43320497:43320497(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4387C>A |
| AA Mutation |
p.Leu1463Ile(p.L1463I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405006 |
| Start |
43560239:43560239(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369396814
|
| CDS Mutation |
c.2458T>G |
| AA Mutation |
p.Phe820Val(p.F820V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405006 |
| Start |
43590840:43590840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.286A>C |
| AA Mutation |
p.Lys96Gln(p.K96Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000405006 |
| Start |
43498917:43498917(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3660T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000405006 |
| Start |
43398048:43398048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs548266644
|
| CDS Mutation |
c.4150C>T |
| AA Mutation |
p.Arg1384Ter(p.R1384*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|