4303872 |
c.56G>T |
p.G19V |
Chr.2:
136115872-136115872
on Build GRCh38
|
6975935 |
c.89G>T |
p.R30L |
Chr.2:
136115839-136115839
on Build GRCh38
|
4875746 |
c.76G>A |
p.E26K |
Chr.2:
136115852-136115852
on Build GRCh38
|
5465086 |
c.19C>A |
p.L7I |
Chr.2:
136115921-136115921
on Build GRCh38
|
3990611 |
c.129C>A |
p.I43I |
Chr.2:
136115811-136115811
on Build GRCh38
|
6960166 |
c.77A>T |
p.E26V |
Chr.2:
136115851-136115851
on Build GRCh38
|
7205913 |
c.105_106insA |
p.E36fs*4 |
Chr.2:
136115834-136115835
on Build GRCh38
|
5071584 |
c.65delC |
p.S22fs*1 |
Chr.2:
136115875-136115875
on Build GRCh38
|
6871391 |
c.140C>T |
p.T47I |
Chr.2:
136115800-136115800
on Build GRCh38
|
4859154 |
c.72G>A |
p.M24I |
Chr.2:
136115856-136115856
on Build GRCh38
|
1691080 |
c.181G>A |
p.G61R |
Chr.2:
136115759-136115759
on Build GRCh38
|
5015954 |
c.23_24insTT |
p.L8fs*22 |
Chr.2:
136115916-136115917
on Build GRCh38
|
3990612 |
c.117C>A |
p.I39I |
Chr.2:
136115811-136115811
on Build GRCh38
|
716715 |
c.84G>A |
p.M28I |
Chr.2:
136115856-136115856
on Build GRCh38
|
6638475 |
c.110A>C |
p.N37T |
Chr.2:
136115830-136115830
on Build GRCh38
|
5603323 |
c.88C>T |
p.R30C |
Chr.2:
136115840-136115840
on Build GRCh38
|
369431 |
c.138C>T |
p.P46P |
Chr.2:
136115802-136115802
on Build GRCh38
|
4788100 |
c.174G>C |
p.L58F |
Chr.2:
136115754-136115754
on Build GRCh38
|
1399599 |
c.67G>T |
p.G23W |
Chr.2:
136115873-136115873
on Build GRCh38
|
362049 |
c.193C>A |
p.L65M |
Chr.2:
136115747-136115747
on Build GRCh38
|
4784551 |
c.55G>T |
p.G19W |
Chr.2:
136115873-136115873
on Build GRCh38
|
5465087 |
c.16-9C>A |
p.? |
Chr.2:
136115921-136115921
on Build GRCh38
|
6454680 |
c.84G>T |
p.M28I |
Chr.2:
136115856-136115856
on Build GRCh38
|
3566843 |
c.38C>T |
p.S13L |
Chr.2:
136115902-136115902
on Build GRCh38
|
4788099 |
c.186G>C |
p.L62F |
Chr.2:
136115754-136115754
on Build GRCh38
|
3566839 |
c.132C>T |
p.F44F |
Chr.2:
136115808-136115808
on Build GRCh38
|
6975934 |
c.101G>T |
p.R34L |
Chr.2:
136115839-136115839
on Build GRCh38
|
3566844 |
c.26C>T |
p.S9L |
Chr.2:
136115902-136115902
on Build GRCh38
|
4610486 |
c.16-1G>C |
p.? |
Chr.2:
136115913-136115913
on Build GRCh38
|
1249497 |
c.195G>A |
p.L65L |
Chr.2:
136115745-136115745
on Build GRCh38
|
5015955 |
c.16-5_16-4insTT |
p.? |
Chr.2:
136115916-136115917
on Build GRCh38
|
3566840 |
c.120C>T |
p.F40F |
Chr.2:
136115808-136115808
on Build GRCh38
|
6638476 |
c.98A>C |
p.N33T |
Chr.2:
136115830-136115830
on Build GRCh38
|
6963589 |
c.61G>T |
p.G21C |
Chr.2:
136115879-136115879
on Build GRCh38
|
4610485 |
c.27G>C |
p.Q9H |
Chr.2:
136115913-136115913
on Build GRCh38
|
5991650 |
c.99C>T |
p.F33F |
Chr.2:
136115841-136115841
on Build GRCh38
|
6982552 |
c.201G>C |
p.K67N |
Chr.2:
136115727-136115727
on Build GRCh38
|
3357492 |
c.46T>C |
p.Y16H |
Chr.2:
136115894-136115894
on Build GRCh38
|
6960149 |
c.44A>G |
p.N15S |
Chr.2:
136115896-136115896
on Build GRCh38
|
3116619 |
c.5C>A |
p.S2Y |
Chr.2:
136115935-136115935
on Build GRCh38
|
6454681 |
c.72G>T |
p.M24I |
Chr.2:
136115856-136115856
on Build GRCh38
|
94110 |
c.101G>A |
p.R34H |
Chr.2:
136115839-136115839
on Build GRCh38
|
4303870 |
c.75G>A |
p.K25K |
Chr.2:
136115853-136115853
on Build GRCh38
|
6973628 |
c.155G>T |
p.G52V |
Chr.2:
136115773-136115773
on Build GRCh38
|
5603322 |
c.100C>T |
p.R34C |
Chr.2:
136115840-136115840
on Build GRCh38
|
6969691 |
c.62A>G |
p.Y21C |
Chr.2:
136115866-136115866
on Build GRCh38
|
6963590 |
c.49G>T |
p.G17C |
Chr.2:
136115879-136115879
on Build GRCh38
|
6960150 |
c.32A>G |
p.N11S |
Chr.2:
136115896-136115896
on Build GRCh38
|
5058093 |
c.177C>T |
p.G59G |
Chr.2:
136115763-136115763
on Build GRCh38
|
6638485 |
c.14T>C |
p.L5S |
Chr.2:
136115926-136115926
on Build GRCh38
|
3836910 |
c.210G>A |
p.Q70Q |
Chr.2:
136115730-136115730
on Build GRCh38
|
4843335 |
c.40G>A |
p.E14K |
Chr.2:
136115888-136115888
on Build GRCh38
|
716716 |
c.87G>A |
p.K29K |
Chr.2:
136115853-136115853
on Build GRCh38
|
6638477 |
c.51C>T |
p.T17T |
Chr.2:
136115889-136115889
on Build GRCh38
|
6560712 |
c.94T>G |
p.C32G |
Chr.2:
136115846-136115846
on Build GRCh38
|
3836911 |
c.198G>A |
p.Q66Q |
Chr.2:
136115730-136115730
on Build GRCh38
|
366325 |
c.129C>G |
p.I43M |
Chr.2:
136115811-136115811
on Build GRCh38
|
6982551 |
c.213G>C |
p.K71N |
Chr.2:
136115727-136115727
on Build GRCh38
|
6871392 |
c.128C>T |
p.T43I |
Chr.2:
136115800-136115800
on Build GRCh38
|
4843334 |
c.52G>A |
p.E18K |
Chr.2:
136115888-136115888
on Build GRCh38
|
3566841 |
c.68G>A |
p.G23E |
Chr.2:
136115872-136115872
on Build GRCh38
|
5058094 |
c.165C>T |
p.G55G |
Chr.2:
136115763-136115763
on Build GRCh38
|
7205914 |
c.93_94insA |
p.E32fs*4 |
Chr.2:
136115834-136115835
on Build GRCh38
|
3566837 |
c.236A>T |
p.K79M |
Chr.2:
136115704-136115704
on Build GRCh38
|
6973627 |
c.167G>T |
p.G56V |
Chr.2:
136115773-136115773
on Build GRCh38
|
3566842 |
c.56G>A |
p.G19E |
Chr.2:
136115872-136115872
on Build GRCh38
|
6969690 |
c.74A>G |
p.Y25C |
Chr.2:
136115866-136115866
on Build GRCh38
|
6638478 |
c.39C>T |
p.T13T |
Chr.2:
136115889-136115889
on Build GRCh38
|
1241056 |
c.201G>T |
p.M67I |
Chr.2:
136115739-136115739
on Build GRCh38
|
3566838 |
c.224A>T |
p.K75M |
Chr.2:
136115704-136115704
on Build GRCh38
|
6560713 |
c.82T>G |
p.C28G |
Chr.2:
136115846-136115846
on Build GRCh38
|
6960165 |
c.89A>T |
p.E30V |
Chr.2:
136115851-136115851
on Build GRCh38
|
1166817 |
c.121A>T |
p.N41Y |
Chr.2:
136115819-136115819
on Build GRCh38
|
332390 |
c.231G>A |
p.T77T |
Chr.2:
136115709-136115709
on Build GRCh38
|
1006911 |
c.88G>A |
p.E30K |
Chr.2:
136115852-136115852
on Build GRCh38
|
3357493 |
c.34T>C |
p.Y12H |
Chr.2:
136115894-136115894
on Build GRCh38
|
3116617 |
c.68G>T |
p.G23V |
Chr.2:
136115872-136115872
on Build GRCh38
|