| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75866937:75866937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1776G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75911671:75911671(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3413-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MYO6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75857131:75857131(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1258C>G |
| AA Mutation |
p.Arg420Gly(p.R420G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75848502:75848502(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377470568
|
| CDS Mutation |
c.1049T>C |
| AA Mutation |
p.Ile350Thr(p.I350T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75890181:75890181(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760672339
|
| CDS Mutation |
c.2783G>A |
| AA Mutation |
p.Arg928His(p.R928H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75890075:75890075(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777201145
|
| CDS Mutation |
c.2677G>A |
| AA Mutation |
p.Glu893Lys(p.E893K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75841334:75841334(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.772G>T |
| AA Mutation |
p.Asp258Tyr(p.D258Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75886015:75886015(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2428A>C |
| AA Mutation |
p.Ile810Leu(p.I810L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75828608:75828608(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.256A>C |
| AA Mutation |
p.Ile86Leu(p.I86L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75832935:75832935(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.485A>C |
| AA Mutation |
p.Lys162Thr(p.K162T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75817646:75817646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.99C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75830445:75830445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.291G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75822830:75822830(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.171delA |
| AA Mutation |
p.Asp58MetfsTer8(p.D58Mfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369977 |
| Start |
75879879:75879879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2137G>T |
| AA Mutation |
p.Glu713Ter(p.E713*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000369977 |
| Start |
75862595:75862595(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1547-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|