6123080 |
c.2052G>T |
p.Q684H |
Chr.1:
177281228-177281228
on Build GRCh38
|
260811 |
c.1797G>A |
p.E599E |
Chr.1:
177280973-177280973
on Build GRCh38
|
4828554 |
c.1793C>G |
p.S598C |
Chr.1:
177280969-177280969
on Build GRCh38
|
219450 |
c.1775C>A |
p.P592H |
Chr.1:
177280951-177280951
on Build GRCh38
|
4795329 |
c.1528C>T |
p.Q510* |
Chr.1:
177280704-177280704
on Build GRCh38
|
1336562 |
c.1937T>C |
p.L646P |
Chr.1:
177281113-177281113
on Build GRCh38
|
3976584 |
c.1750C>A |
p.P584T |
Chr.1:
177280926-177280926
on Build GRCh38
|
6059999 |
c.1622G>A |
p.W541* |
Chr.1:
177280798-177280798
on Build GRCh38
|
676824 |
c.1744C>T |
p.L582L |
Chr.1:
177280920-177280920
on Build GRCh38
|
3479058 |
c.2073C>T |
p.P691P |
Chr.1:
177281249-177281249
on Build GRCh38
|
2094356 |
c.1940G>A |
p.R647Q |
Chr.1:
177281116-177281116
on Build GRCh38
|
3479054 |
c.1905G>A |
p.W635* |
Chr.1:
177281081-177281081
on Build GRCh38
|
7316098 |
c.1983C>A |
p.I661I |
Chr.1:
177281159-177281159
on Build GRCh38
|
3479050 |
c.1531G>A |
p.D511N |
Chr.1:
177280707-177280707
on Build GRCh38
|
5623571 |
c.1700T>A |
p.M567K |
Chr.1:
177280876-177280876
on Build GRCh38
|
1689270 |
c.1637G>T |
p.W546L |
Chr.1:
177280813-177280813
on Build GRCh38
|
900078 |
c.1756A>G |
p.M586V |
Chr.1:
177280932-177280932
on Build GRCh38
|
4025472 |
c.1844G>T |
p.R615M |
Chr.1:
177281020-177281020
on Build GRCh38
|
4924918 |
c.1825A>C |
p.S609R |
Chr.1:
177281001-177281001
on Build GRCh38
|
5598294 |
c.1960G>A |
p.D654N |
Chr.1:
177281136-177281136
on Build GRCh38
|
7178030 |
c.2008G>A |
p.D670N |
Chr.1:
177281184-177281184
on Build GRCh38
|
3802974 |
c.1764C>A |
p.I588I |
Chr.1:
177280940-177280940
on Build GRCh38
|
4025468 |
c.1733A>C |
p.K578T |
Chr.1:
177280909-177280909
on Build GRCh38
|
6659886 |
c.1726C>A |
p.L576I |
Chr.1:
177280902-177280902
on Build GRCh38
|
1251926 |
c.2018A>C |
p.K673T |
Chr.1:
177281194-177281194
on Build GRCh38
|
5568504 |
c.1568G>T |
p.S523I |
Chr.1:
177280744-177280744
on Build GRCh38
|
3716856 |
c.2018A>T |
p.K673M |
Chr.1:
177281194-177281194
on Build GRCh38
|
1197740 |
c.1781G>T |
p.G594V |
Chr.1:
177280957-177280957
on Build GRCh38
|
6541307 |
c.1959G>T |
p.L653L |
Chr.1:
177281135-177281135
on Build GRCh38
|
1491876 |
c.1970C>G |
p.S657C |
Chr.1:
177281146-177281146
on Build GRCh38
|
175449 |
c.1946G>A |
p.R649Q |
Chr.1:
177281122-177281122
on Build GRCh38
|
4394686 |
c.1880G>A |
p.W627* |
Chr.1:
177281056-177281056
on Build GRCh38
|
1336561 |
c.1827C>A |
p.S609R |
Chr.1:
177281003-177281003
on Build GRCh38
|
6059998 |
c.1684G>T |
p.G562W |
Chr.1:
177280860-177280860
on Build GRCh38
|
676823 |
c.1795G>A |
p.E599K |
Chr.1:
177280971-177280971
on Build GRCh38
|
3479057 |
c.1975G>A |
p.E659K |
Chr.1:
177281151-177281151
on Build GRCh38
|
7264297 |
c.1574T>A |
p.I525N |
Chr.1:
177280750-177280750
on Build GRCh38
|
97989 |
c.1571G>A |
p.R524H |
Chr.1:
177280747-177280747
on Build GRCh38
|
2094354 |
c.1914C>T |
p.F638F |
Chr.1:
177281090-177281090
on Build GRCh38
|
1320713 |
c.1570C>T |
p.R524C |
Chr.1:
177280746-177280746
on Build GRCh38
|
3479053 |
c.1896G>A |
p.G632G |
Chr.1:
177281072-177281072
on Build GRCh38
|
6233794 |
c.1662G>T |
p.L554L |
Chr.1:
177280838-177280838
on Build GRCh38
|
6659893 |
c.1610G>A |
p.R537Q |
Chr.1:
177280786-177280786
on Build GRCh38
|
900077 |
c.1696G>A |
p.V566M |
Chr.1:
177280872-177280872
on Build GRCh38
|
4025471 |
c.1811C>A |
p.P604H |
Chr.1:
177280987-177280987
on Build GRCh38
|
4530242 |
c.1680G>A |
p.K560K |
Chr.1:
177280856-177280856
on Build GRCh38
|
329707 |
c.1784_1785insC |
p.S596fs*4 |
Chr.1:
177280960-177280961
on Build GRCh38
|
1661778 |
c.2053G>T |
p.V685F |
Chr.1:
177281229-177281229
on Build GRCh38
|
4025467 |
c.1719G>C |
p.Q573H |
Chr.1:
177280895-177280895
on Build GRCh38
|
3687811 |
c.1609C>T |
p.R537W |
Chr.1:
177280785-177280785
on Build GRCh38
|
1473041 |
c.2004G>T |
p.M668I |
Chr.1:
177281180-177281180
on Build GRCh38
|
6534057 |
c.1779T>G |
p.F593L |
Chr.1:
177280955-177280955
on Build GRCh38
|
109806 |
c.1692G>T |
p.V564V |
Chr.1:
177280868-177280868
on Build GRCh38
|
4683103 |
c.1780delG |
p.G595fs*11 |
Chr.1:
177280956-177280956
on Build GRCh38
|
1336560 |
c.1645C>T |
p.R549C |
Chr.1:
177280821-177280821
on Build GRCh38
|
6059997 |
c.1903T>A |
p.W635R |
Chr.1:
177281079-177281079
on Build GRCh38
|
676822 |
c.1852G>C |
p.V618L |
Chr.1:
177281028-177281028
on Build GRCh38
|
530647 |
c.1965C>G |
p.D655E |
Chr.1:
177281141-177281141
on Build GRCh38
|
3479056 |
c.1957C>T |
p.L653L |
Chr.1:
177281133-177281133
on Build GRCh38
|
5648138 |
c.1918G>A |
p.E640K |
Chr.1:
177281094-177281094
on Build GRCh38
|
2094352 |
c.1895G>A |
p.G632E |
Chr.1:
177281071-177281071
on Build GRCh38
|
3479052 |
c.1638G>A |
p.W546* |
Chr.1:
177280814-177280814
on Build GRCh38
|
1689272 |
c.1840G>A |
p.E614K |
Chr.1:
177281016-177281016
on Build GRCh38
|
4025474 |
c.1966A>G |
p.S656G |
Chr.1:
177281142-177281142
on Build GRCh38
|
6009636 |
c.2011C>T |
p.P671S |
Chr.1:
177281187-177281187
on Build GRCh38
|
5612669 |
c.1832C>T |
p.P611L |
Chr.1:
177281008-177281008
on Build GRCh38
|
5953529 |
c.1616G>A |
p.G539D |
Chr.1:
177280792-177280792
on Build GRCh38
|
4025470 |
c.1810C>T |
p.P604S |
Chr.1:
177280986-177280986
on Build GRCh38
|
900076 |
c.1695C>T |
p.H565H |
Chr.1:
177280871-177280871
on Build GRCh38
|
4533041 |
c.1941G>A |
p.R647R |
Chr.1:
177281117-177281117
on Build GRCh38
|
3360510 |
c.1658C>T |
p.T553I |
Chr.1:
177280834-177280834
on Build GRCh38
|
4919185 |
c.1917T>A |
p.F639L |
Chr.1:
177281093-177281093
on Build GRCh38
|
5844602 |
c.1834G>A |
p.D612N |
Chr.1:
177281010-177281010
on Build GRCh38
|
4529784 |
c.1641G>A |
p.R547R |
Chr.1:
177280817-177280817
on Build GRCh38
|
1206398 |
c.1553T>C |
p.L518P |
Chr.1:
177280729-177280729
on Build GRCh38
|
3710444 |
c.1581A>T |
p.V527V |
Chr.1:
177280757-177280757
on Build GRCh38
|
5822146 |
c.1576G>T |
p.E526* |
Chr.1:
177280752-177280752
on Build GRCh38
|
6123081 |
c.1749G>T |
p.E583D |
Chr.1:
177280925-177280925
on Build GRCh38
|
108692 |
c.2034G>A |
p.M678I |
Chr.1:
177281210-177281210
on Build GRCh38
|
6508241 |
c.1752T>A |
p.P584P |
Chr.1:
177280928-177280928
on Build GRCh38
|
5378583 |
c.1549C>T |
p.L517L |
Chr.1:
177280725-177280725
on Build GRCh38
|
1336563 |
c.2044A>G |
p.T682A |
Chr.1:
177281220-177281220
on Build GRCh38
|
1747964 |
c.1698G>A |
p.V566V |
Chr.1:
177280874-177280874
on Build GRCh38
|
6060000 |
c.1534C>G |
p.L512V |
Chr.1:
177280710-177280710
on Build GRCh38
|
676825 |
c.1578G>T |
p.E526D |
Chr.1:
177280754-177280754
on Build GRCh38
|
7322614 |
c.1530G>C |
p.Q510H |
Chr.1:
177280706-177280706
on Build GRCh38
|
1725213 |
c.1879T>C |
p.W627R |
Chr.1:
177281055-177281055
on Build GRCh38
|
6059996 |
c.1996C>A |
p.L666M |
Chr.1:
177281172-177281172
on Build GRCh38
|
676821 |
c.2012C>A |
p.P671H |
Chr.1:
177281188-177281188
on Build GRCh38
|
3479055 |
c.1956C>T |
p.S652S |
Chr.1:
177281132-177281132
on Build GRCh38
|
5623572 |
c.1854G>A |
p.V618V |
Chr.1:
177281030-177281030
on Build GRCh38
|
1689271 |
c.1831C>T |
p.P611S |
Chr.1:
177281007-177281007
on Build GRCh38
|
2094346 |
c.1810C>G |
p.P604A |
Chr.1:
177280986-177280986
on Build GRCh38
|
3479051 |
c.1564G>A |
p.D522N |
Chr.1:
177280740-177280740
on Build GRCh38
|
7186285 |
c.1668C>A |
p.S556R |
Chr.1:
177280844-177280844
on Build GRCh38
|
380783 |
c.1939C>T |
p.R647W |
Chr.1:
177281115-177281115
on Build GRCh38
|
4025473 |
c.1924G>C |
p.V642L |
Chr.1:
177281100-177281100
on Build GRCh38
|
900079 |
c.1970C>T |
p.S657F |
Chr.1:
177281146-177281146
on Build GRCh38
|
6009635 |
c.1719G>A |
p.Q573Q |
Chr.1:
177280895-177280895
on Build GRCh38
|
4531910 |
c.1838G>A |
p.W613* |
Chr.1:
177281014-177281014
on Build GRCh38
|
6659891 |
c.1792T>G |
p.S598A |
Chr.1:
177280968-177280968
on Build GRCh38
|
900075 |
c.1617C>T |
p.G539G |
Chr.1:
177280793-177280793
on Build GRCh38
|
4025469 |
c.1767C>T |
p.Y589Y |
Chr.1:
177280943-177280943
on Build GRCh38
|
3705267 |
c.1527G>T |
p.L509F |
Chr.1:
177280703-177280703
on Build GRCh38
|
6123082 |
c.1556A>C |
p.Q519P |
Chr.1:
177280732-177280732
on Build GRCh38
|
4476281 |
c.2055C>T |
p.V685V |
Chr.1:
177281231-177281231
on Build GRCh38
|