| Mutation ID |
24 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000241416 |
| Start |
147926105:147926107(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1296_1298delTGT |
| AA Mutation |
p.Val433del(p.V433del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000241416 |
| Start |
147918575:147918583(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.946_954delCCTGCCATA |
| AA Mutation |
p.Pro316_Ile318del(p.P316_I318del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ACVR2A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000241416 |
| Start |
147920246:147920246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.979A>C |
| AA Mutation |
p.Asn327His(p.N327H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000241416 |
| Start |
147899879:147899879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.509C>A |
| AA Mutation |
p.Pro170His(p.P170H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000241416 |
| Start |
147896475:147896475(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.230G>A |
| AA Mutation |
p.Gly77Asp(p.G77D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000241416 |
| Start |
147915302:147915302(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770920471
|
| CDS Mutation |
c.640G>A |
| AA Mutation |
p.Glu214Lys(p.E214K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000241416 |
| Start |
147926117:147926118(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1309_1310delAA |
| AA Mutation |
p.Lys437GlufsTer19(p.K437Efs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000241416 |
| Start |
147915302:147915302(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.640G>T |
| AA Mutation |
p.Glu214Ter(p.E214*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000241416 |
| Start |
147927260:147927260(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1528G>T |
| AA Mutation |
p.Glu510Ter(p.E510*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000241416 |
| Start |
147917304:147917304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.694G>T |
| AA Mutation |
p.Glu232Ter(p.E232*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000241416 |
| Start |
147918445:147918445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.817-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|