| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000336909 |
| Start |
55976241:55976267(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12_38delGCAGACTTGGCTAGTGCAAGCCTTGTT |
| AA Mutation |
p.Leu4_Leu12del(p.L4_L12del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000336909 |
| Start |
55964221:55964229(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.575_583delTCAACATTG |
| AA Mutation |
p.Val192_Ile194del(p.V192_I194del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000336909 |
| Start |
55964228:55964239(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.565_576delGTGTATTTTGTC |
| AA Mutation |
p.Val189_Val192del(p.V189_V192del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000336909 |
| Start |
55964233:55964247(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.557_571delATTCTACTGTGTATT |
| AA Mutation |
p.Tyr186_Tyr190del(p.Y186_Y190del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000336909 |
| Start |
55964216:55964221(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.583_588delGAAGTC |
| AA Mutation |
p.Glu195_Val196del(p.E195_V196del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000336909 |
| Start |
55964156:55964158(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.646_648delCCT |
| AA Mutation |
p.Pro216del(p.P216del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000336909 |
| Start |
55964226:55964237(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.567_578delGTATTTTGTCAA |
| AA Mutation |
p.Tyr190_Asn193del(p.Y190_N193del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000336909 |
| Start |
55964154:55964162(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.642_650delTGATCCTGT |
| AA Mutation |
p.Phe214_Val217delinsLeu(p.F214_V217delinsL) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |