| Mutation ID |
40 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000300036 |
| Start |
15776076:15776076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.889+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
41 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000300036 |
| Start |
15726938:15726940(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs730880147
|
| CDS Mutation |
c.3766_3768delAAG |
| AA Mutation |
p.Lys1256del(p.K1256del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MYH11
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300036 |
| Start |
15740059:15740059(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2989C>G |
| AA Mutation |
p.Leu997Val(p.L997V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300036 |
| Start |
15747711:15747711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2270A>G |
| AA Mutation |
p.Asp757Gly(p.D757G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300036 |
| Start |
15715003:15715003(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5692G>A |
| AA Mutation |
p.Ala1898Thr(p.A1898T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000300036 |
| Start |
15823410:15823410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.347C>T |
| AA Mutation |
p.Thr116Met(p.T116M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300036 |
| Start |
15720306:15720306(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761463510
|
| CDS Mutation |
c.4798G>A |
| AA Mutation |
p.Glu1600Lys(p.E1600K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300036 |
| Start |
15735438:15735438(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3434G>A |
| AA Mutation |
p.Gly1145Asp(p.G1145D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300036 |
| Start |
15738617:15738617(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3069G>T |
| AA Mutation |
p.Lys1023Asn(p.K1023N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300036 |
| Start |
15838248:15838248(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150600829
|
| CDS Mutation |
c.5C>T |
| AA Mutation |
p.Ala2Val(p.A2V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000300036 |
| Start |
15838148:15838148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779367784
|
| CDS Mutation |
c.105C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000300036 |
| Start |
15776118:15776118(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756799858
|
| CDS Mutation |
c.849C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|