| Mutation ID |
55 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000536101 |
| Start |
25772361:25772361(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1720G>T |
| AA Mutation |
p.Glu574Ter(p.E574*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
56 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25947710:25947710(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5632-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MYO18B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25768489:25768489(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.573G>T |
| AA Mutation |
p.Lys191Asn(p.K191N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536101 |
| Start |
26027127:26027127(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767625703
|
| CDS Mutation |
c.7153C>T |
| AA Mutation |
p.Arg2385Trp(p.R2385W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536101 |
| Start |
26027028:26027028(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747342106
|
| CDS Mutation |
c.7054G>A |
| AA Mutation |
p.Glu2352Lys(p.E2352K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25890789:25890789(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs527443272
|
| CDS Mutation |
c.4348C>T |
| AA Mutation |
p.Arg1450Cys(p.R1450C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25761114:25761114(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139296373
|
| CDS Mutation |
c.22G>A |
| AA Mutation |
p.Ala8Thr(p.A8T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25768663:25768663(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.747G>T |
| AA Mutation |
p.Lys249Asn(p.K249N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25769335:25769335(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1419G>T |
| AA Mutation |
p.Lys473Asn(p.K473N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25898450:25898450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4812G>T |
| AA Mutation |
p.Lys1604Asn(p.K1604N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536101 |
| Start |
26027419:26027419(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs577931213
|
| CDS Mutation |
c.7445G>A |
| AA Mutation |
p.Arg2482His(p.R2482H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25761109:25761109(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775888404
|
| CDS Mutation |
c.17G>A |
| AA Mutation |
p.Arg6His(p.R6H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25769351:25769351(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs540637749
|
| CDS Mutation |
c.1435C>T |
| AA Mutation |
p.Arg479Trp(p.R479W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25770980:25770980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1688A>G |
| AA Mutation |
p.His563Arg(p.H563R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25770978:25770978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1686C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25891369:25891369(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141679204
|
| CDS Mutation |
c.4500G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25823668:25823668(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2685A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25780165:25780165(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374300047
|
| CDS Mutation |
c.2178C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25946235:25946235(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5616G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000536101 |
| Start |
25763267:25763267(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.80delC |
| AA Mutation |
p.Pro27LeufsTer32(p.P27Lfs*32) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000536101 |
| Start |
25952355:25952355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5902C>T |
| AA Mutation |
p.Gln1968Ter(p.Q1968*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|