5449240 |
c.2152-4A>G |
p.? |
Chr.1:
92513974-92513974
on Build GRCh38
|
4478524 |
c.2246C>T |
p.S749F |
Chr.1:
92513843-92513843
on Build GRCh38
|
4478525 |
c.2279C>T |
p.S760F |
Chr.1:
92513843-92513843
on Build GRCh38
|
6334812 |
c.2219C>A |
p.S740Y |
Chr.1:
92513870-92513870
on Build GRCh38
|
4866493 |
c.2386C>A |
p.L796M |
Chr.1:
92513736-92513736
on Build GRCh38
|
4861230 |
c.2306C>T |
p.P769L |
Chr.1:
92513816-92513816
on Build GRCh38
|
682699 |
c.2273C>T |
p.P758L |
Chr.1:
92513816-92513816
on Build GRCh38
|
1627253 |
c.2230G>T |
p.D744Y |
Chr.1:
92513859-92513859
on Build GRCh38
|
3790341 |
c.2287G>A |
p.E763K |
Chr.1:
92513835-92513835
on Build GRCh38
|
375287 |
c.2243A>G |
p.N748S |
Chr.1:
92513846-92513846
on Build GRCh38
|
3741429 |
c.2393G>A |
p.R798Q |
Chr.1:
92513696-92513696
on Build GRCh38
|
5634995 |
c.2194A>G |
p.I732V |
Chr.1:
92513895-92513895
on Build GRCh38
|
5634996 |
c.2227A>G |
p.I743V |
Chr.1:
92513895-92513895
on Build GRCh38
|
7171691 |
c.2329G>C |
p.E777Q |
Chr.1:
92513760-92513760
on Build GRCh38
|
3790340 |
c.2254G>A |
p.E752K |
Chr.1:
92513835-92513835
on Build GRCh38
|
7411918 |
c.2237A>T |
p.D746V |
Chr.1:
92513885-92513885
on Build GRCh38
|
3977976 |
c.2236A>G |
p.I746V |
Chr.1:
92513853-92513853
on Build GRCh38
|
7207773 |
c.2406_2407delAA |
p.E804fs*>7 |
Chr.1:
92513682-92513683
on Build GRCh38
|
4010616 |
c.2414C>T |
p.S805L |
Chr.1:
92513675-92513675
on Build GRCh38
|
74553 |
c.2308C>A |
p.P770T |
Chr.1:
92513781-92513781
on Build GRCh38
|
4010619 |
c.2300G>A |
p.G767D |
Chr.1:
92513822-92513822
on Build GRCh38
|
4879915 |
c.2335G>A |
p.E779K |
Chr.1:
92513754-92513754
on Build GRCh38
|
7411917 |
c.2204A>T |
p.D735V |
Chr.1:
92513885-92513885
on Build GRCh38
|
4822428 |
c.2441G>C |
p.R814T |
Chr.1:
92513681-92513681
on Build GRCh38
|
5000826 |
c.2186G>T |
p.G729V |
Chr.1:
92513936-92513936
on Build GRCh38
|
3377317 |
c.2344G>A |
p.A782T |
Chr.1:
92513778-92513778
on Build GRCh38
|
5000825 |
c.2153G>T |
p.G718V |
Chr.1:
92513936-92513936
on Build GRCh38
|
913317 |
c.2353C>A |
p.L785M |
Chr.1:
92513736-92513736
on Build GRCh38
|
4010620 |
c.2210C>T |
p.S737L |
Chr.1:
92513879-92513879
on Build GRCh38
|
3377316 |
c.2311G>A |
p.A771T |
Chr.1:
92513778-92513778
on Build GRCh38
|
5381718 |
c.2175C>T |
p.I725I |
Chr.1:
92513914-92513914
on Build GRCh38
|
6656902 |
c.2256C>T |
p.S752S |
Chr.1:
92513866-92513866
on Build GRCh38
|
4144255 |
c.2325T>C |
p.G775G |
Chr.1:
92513797-92513797
on Build GRCh38
|
3493367 |
c.2252C>T |
p.S751F |
Chr.1:
92513870-92513870
on Build GRCh38
|
5449237 |
c.2123G>T |
p.R708M |
Chr.1:
92513966-92513966
on Build GRCh38
|
5381719 |
c.2208C>T |
p.I736I |
Chr.1:
92513914-92513914
on Build GRCh38
|
4862500 |
c.2433G>T |
p.P811P |
Chr.1:
92513689-92513689
on Build GRCh38
|
682700 |
c.2400G>T |
p.P800P |
Chr.1:
92513689-92513689
on Build GRCh38
|
682698 |
c.2197G>T |
p.G733* |
Chr.1:
92513892-92513892
on Build GRCh38
|
5449238 |
c.2156G>T |
p.R719M |
Chr.1:
92513966-92513966
on Build GRCh38
|
6334813 |
c.2252C>A |
p.S751Y |
Chr.1:
92513870-92513870
on Build GRCh38
|
5648663 |
c.2288C>A |
p.S763Y |
Chr.1:
92513801-92513801
on Build GRCh38
|
3786289 |
c.2152C>T |
p.L718F |
Chr.1:
92513970-92513970
on Build GRCh38
|
3741430 |
c.2426G>A |
p.R809Q |
Chr.1:
92513696-92513696
on Build GRCh38
|
7171692 |
c.2362G>C |
p.E788Q |
Chr.1:
92513760-92513760
on Build GRCh38
|
7268388 |
c.2152-6delT |
p.? |
Chr.1:
92513976-92513976
on Build GRCh38
|
4870600 |
c.2425C>T |
p.R809W |
Chr.1:
92513697-92513697
on Build GRCh38
|
3786288 |
c.2119C>T |
p.L707F |
Chr.1:
92513970-92513970
on Build GRCh38
|
5648664 |
c.2321C>A |
p.S774Y |
Chr.1:
92513801-92513801
on Build GRCh38
|
7207774 |
c.2439_2440delAA |
p.E815fs*>7 |
Chr.1:
92513682-92513683
on Build GRCh38
|
1688044 |
c.2219C>T |
p.S740F |
Chr.1:
92513870-92513870
on Build GRCh38
|
7268387 |
c.2119-6delT |
p.? |
Chr.1:
92513976-92513976
on Build GRCh38
|
3977977 |
c.2269A>G |
p.I757V |
Chr.1:
92513853-92513853
on Build GRCh38
|
7400966 |
c.2200G>C |
p.D734H |
Chr.1:
92513922-92513922
on Build GRCh38
|
4783009 |
c.2274T>C |
p.D758D |
Chr.1:
92513848-92513848
on Build GRCh38
|
4822427 |
c.2408G>C |
p.R803T |
Chr.1:
92513681-92513681
on Build GRCh38
|
4947610 |
c.2341C>A |
p.P781T |
Chr.1:
92513781-92513781
on Build GRCh38
|
4010617 |
c.2447C>T |
p.S816L |
Chr.1:
92513675-92513675
on Build GRCh38
|
4973709 |
c.2294C>T |
p.S765L |
Chr.1:
92513795-92513795
on Build GRCh38
|
4879916 |
c.2368G>A |
p.E790K |
Chr.1:
92513754-92513754
on Build GRCh38
|
7400965 |
c.2167G>C |
p.D723H |
Chr.1:
92513922-92513922
on Build GRCh38
|
4973710 |
c.2327C>T |
p.S776L |
Chr.1:
92513795-92513795
on Build GRCh38
|
913318 |
c.2224G>T |
p.D742Y |
Chr.1:
92513865-92513865
on Build GRCh38
|
3493366 |
c.2305C>T |
p.P769S |
Chr.1:
92513817-92513817
on Build GRCh38
|
6656901 |
c.2223C>T |
p.S741S |
Chr.1:
92513866-92513866
on Build GRCh38
|
913316 |
c.2392C>T |
p.R798W |
Chr.1:
92513697-92513697
on Build GRCh38
|
4010618 |
c.2267G>A |
p.G756D |
Chr.1:
92513822-92513822
on Build GRCh38
|
4010621 |
c.2243C>T |
p.S748L |
Chr.1:
92513879-92513879
on Build GRCh38
|
5032061 |
c.2405G>C |
p.R802T |
Chr.1:
92513684-92513684
on Build GRCh38
|
1344920 |
c.2241T>C |
p.D747D |
Chr.1:
92513848-92513848
on Build GRCh38
|
5032062 |
c.2438G>C |
p.R813T |
Chr.1:
92513684-92513684
on Build GRCh38
|
4859736 |
c.2230G>T |
p.G744* |
Chr.1:
92513892-92513892
on Build GRCh38
|
6127849 |
c.2356G>A |
p.G786S |
Chr.1:
92513766-92513766
on Build GRCh38
|
5449239 |
c.2119-4A>G |
p.? |
Chr.1:
92513974-92513974
on Build GRCh38
|
3700816 |
c.2263G>T |
p.D755Y |
Chr.1:
92513859-92513859
on Build GRCh38
|
6127848 |
c.2323G>A |
p.G775S |
Chr.1:
92513766-92513766
on Build GRCh38
|
4144254 |
c.2292T>C |
p.G764G |
Chr.1:
92513797-92513797
on Build GRCh38
|
3493365 |
c.2272C>T |
p.P758S |
Chr.1:
92513817-92513817
on Build GRCh38
|