| Mutation ID |
42 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344922 |
| Start |
222627716:222627717(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs756037599
|
| CDS Mutation |
c.503dupA |
| AA Mutation |
p.Asn168LysfsTer3(p.N168Kfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
43 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000344922 |
| Start |
222627664:222627665(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.444_445insAGCCAAGTG |
| AA Mutation |
p.Ser149_Ala150insGlnValSer(p.S149_A150insQVS) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MIA3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344922 |
| Start |
222629086:222629086(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1866A>C |
| AA Mutation |
p.Leu622Phe(p.L622F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344922 |
| Start |
222628833:222628833(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1613G>T |
| AA Mutation |
p.Gly538Val(p.G538V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344922 |
| Start |
222629178:222629178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1958G>T |
| AA Mutation |
p.Arg653Ile(p.R653I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344922 |
| Start |
222628288:222628288(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1068G>T |
| AA Mutation |
p.Gln356His(p.Q356H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344922 |
| Start |
222654753:222654753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4567C>A |
| AA Mutation |
p.Leu1523Met(p.L1523M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344922 |
| Start |
222650694:222650694(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3781G>T |
| AA Mutation |
p.Glu1261Ter(p.E1261*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344922 |
| Start |
222629657:222629657(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2437G>T |
| AA Mutation |
p.Glu813Ter(p.E813*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344922 |
| Start |
222630014:222630014(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2794G>T |
| AA Mutation |
p.Glu932Ter(p.E932*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000344922 |
| Start |
222659514:222659514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4770+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|