| Mutation ID |
47 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000356287 |
| Start |
23402603:23402603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1003-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
48 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000356287 |
| Start |
23384937:23384939(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5266_5268delAAG |
| AA Mutation |
p.Lys1756del(p.K1756del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MYH6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356287 |
| Start |
23390238:23390238(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs112883817
|
| CDS Mutation |
c.3551C>T |
| AA Mutation |
p.Thr1184Met(p.T1184M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356287 |
| Start |
23400783:23400783(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs556536964
|
| CDS Mutation |
c.1336G>A |
| AA Mutation |
p.Ala446Thr(p.A446T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356287 |
| Start |
23407174:23407174(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746646172
|
| CDS Mutation |
c.50G>A |
| AA Mutation |
p.Arg17His(p.R17H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356287 |
| Start |
23390215:23390215(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs574066490
|
| CDS Mutation |
c.3574G>A |
| AA Mutation |
p.Ala1192Thr(p.A1192T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356287 |
| Start |
23389007:23389007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761711033
|
| CDS Mutation |
c.4027G>A |
| AA Mutation |
p.Asp1343Asn(p.D1343N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356287 |
| Start |
23396301:23396301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2412G>T |
| AA Mutation |
p.Lys804Asn(p.K804N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356287 |
| Start |
23407104:23407104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775408594
|
| CDS Mutation |
c.120C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356287 |
| Start |
23382482:23382482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781733700
|
| CDS Mutation |
c.5742C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|