3997185 |
c.1185G>A |
p.T395T |
Chr.1:
206960691-206960691
on Build GRCh38
|
7367983 |
c.1045C>A |
p.L349I |
Chr.1:
206960759-206960759
on Build GRCh38
|
5155172 |
c.1209+4G>A |
p.? |
Chr.1:
206960591-206960591
on Build GRCh38
|
1727101 |
c.1142T>C |
p.L381P |
Chr.1:
206960734-206960734
on Build GRCh38
|
7367982 |
c.1117C>A |
p.L373I |
Chr.1:
206960759-206960759
on Build GRCh38
|
3930608 |
c.1108G>A |
p.A370T |
Chr.1:
206960696-206960696
on Build GRCh38
|
903052 |
c.1276T>C |
p.W426R |
Chr.1:
206960600-206960600
on Build GRCh38
|
1927894 |
c.1274T>C |
p.V425A |
Chr.1:
206960602-206960602
on Build GRCh38
|
1927900 |
c.1190T>C |
p.V397A |
Chr.1:
206960686-206960686
on Build GRCh38
|
3997186 |
c.1113G>A |
p.T371T |
Chr.1:
206960691-206960691
on Build GRCh38
|
4848517 |
c.1150G>C |
p.E384Q |
Chr.1:
206960654-206960654
on Build GRCh38
|
3803696 |
c.1193C>T |
p.S398F |
Chr.1:
206960683-206960683
on Build GRCh38
|
5902473 |
c.1171C>T |
p.L391F |
Chr.1:
206960705-206960705
on Build GRCh38
|
5053024 |
c.1040delA |
p.K347fs*3 |
Chr.1:
206960764-206960764
on Build GRCh38
|
5902474 |
c.1099C>T |
p.L367F |
Chr.1:
206960705-206960705
on Build GRCh38
|
5053023 |
c.1112delA |
p.K371fs*3 |
Chr.1:
206960764-206960764
on Build GRCh38
|
3930607 |
c.1180G>A |
p.A394T |
Chr.1:
206960696-206960696
on Build GRCh38
|
3803697 |
c.1121C>T |
p.S374F |
Chr.1:
206960683-206960683
on Build GRCh38
|
4521641 |
c.1049G>A |
p.G350E |
Chr.1:
206960755-206960755
on Build GRCh38
|
221308 |
c.1129C>A |
p.Q377K |
Chr.1:
206960675-206960675
on Build GRCh38
|
4848516 |
c.1222G>C |
p.E408Q |
Chr.1:
206960654-206960654
on Build GRCh38
|
7003401 |
c.1071G>T |
p.L357L |
Chr.1:
206960733-206960733
on Build GRCh38
|
7003400 |
c.1143G>T |
p.L381L |
Chr.1:
206960733-206960733
on Build GRCh38
|
1583985 |
c.1204T>C |
p.W402R |
Chr.1:
206960600-206960600
on Build GRCh38
|
6364934 |
c.1268C>A |
p.A423E |
Chr.1:
206960608-206960608
on Build GRCh38
|
1727102 |
c.1070T>C |
p.L357P |
Chr.1:
206960734-206960734
on Build GRCh38
|
6364935 |
c.1196C>A |
p.A399E |
Chr.1:
206960608-206960608
on Build GRCh38
|
4521640 |
c.1121G>A |
p.G374E |
Chr.1:
206960755-206960755
on Build GRCh38
|
4410565 |
c.1117delG |
p.V373fs*47 |
Chr.1:
206960687-206960687
on Build GRCh38
|
1161840 |
c.1189delG |
p.V397fs*56 |
Chr.1:
206960687-206960687
on Build GRCh38
|
1927895 |
c.1202T>C |
p.V401A |
Chr.1:
206960602-206960602
on Build GRCh38
|
1927901 |
c.1118T>C |
p.V373A |
Chr.1:
206960686-206960686
on Build GRCh38
|