NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)
|
rs747026964
|
0.00015
|
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)
|
rs376107921
|
0.00013
|
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)
|
rs886043191
|
0.00009
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)
|
rs201736037
|
0.00006
|
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
|
rs121434548
|
0.00006
|
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
|
rs200379491
|
0.00005
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00004
|
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)
|
rs369784333
|
0.00004
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
NM_000070.3(CAPN3):c.1993-1G>A
|
rs369552114
|
0.00003
|
NM_000070.3(CAPN3):c.802-9G>A
|
rs761211705
|
0.00003
|
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)
|
rs371784007
|
0.00002
|
NM_000070.3(CAPN3):c.1801-1G>A
|
rs886043752
|
0.00002
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
NM_000070.3(CAPN3):c.2440-1G>A
|
rs886044052
|
0.00002
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)
|
rs774273767
|
0.00001
|
NM_000070.3(CAPN3):c.1194-9A>G
|
rs374665929
|
0.00001
|
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)
|
rs777483913
|
0.00001
|
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)
|
rs777323132
|
0.00001
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)
|
rs863224956
|
0.00001
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)
|
rs398123143
|
0.00001
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)
|
rs886042557
|
0.00001
|
NM_000070.3(CAPN3):c.2115+1G>A
|
rs766917640
|
0.00001
|
NM_000070.3(CAPN3):c.2185-16A>G
|
rs1339644598
|
0.00001
|
NM_000070.3(CAPN3):c.2185-2A>G
|
rs886041335
|
0.00001
|
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)
|
rs764459544
|
0.00001
|
NM_000070.3(CAPN3):c.2290del (p.Asp764fs)
|
rs886044527
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala)
|
rs587780291
|
0.00001
|
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val)
|
rs763719290
|
0.00001
|
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)
|
rs773001194
|
0.00001
|
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)
|
rs1345121557
|
0.00001
|
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg)
|
rs779939785
|
0.00001
|
NM_000070.3(CAPN3):c.946-29del
|
rs1595826640
|
0.00001
|
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)
|
rs121434547
|
0.00001
|
NC_000015.10:g.(?_42409283)_(42410015_?)del
|
|
|
NC_000015.9:g.(?_42695919)_(42695985_?)dup
|
|
|
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)
|
rs863224965
|
|
NM_000070.3(CAPN3):c.1030-1G>A
|
rs1555421263
|
|
NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly)
|
rs1555421271
|
|
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)
|
rs794727895
|
|
NM_000070.3(CAPN3):c.1115+1G>A
|
rs1555421293
|
|
NM_000070.3(CAPN3):c.1115+2T>A
|
rs1057524468
|
|
NM_000070.3(CAPN3):c.1115+2T>C
|
rs1057524468
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000070.3(CAPN3):c.1128G>A (p.Trp376Ter)
|
|
|
NM_000070.3(CAPN3):c.1193+1G>A
|
|
|
NM_000070.3(CAPN3):c.1194-2del
|
rs2141193533
|
|
NM_000070.3(CAPN3):c.1198del (p.Ser400fs)
|
rs1555421842
|
|
NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe)
|
rs371784007
|
|
NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter)
|
rs1555421847
|
|
NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs)
|
rs1555421854
|
|
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)
|
rs1293496023
|
|
NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)
|
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)
|
rs776043976
|
|
NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)
|
|
|
NM_000070.3(CAPN3):c.1354+1G>A
|
|
|
NM_000070.3(CAPN3):c.1439T>A (p.Phe480Tyr)
|
rs1555422111
|
|
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
|
rs863224958
|
|
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)
|
rs886043432
|
|
NM_000070.3(CAPN3):c.1525-1G>T
|
rs2053889963
|
|
NM_000070.3(CAPN3):c.1525-2A>G
|
|
|
NM_000070.3(CAPN3):c.1525G>T (p.Val509Phe)
|
rs1409503203
|
|
NM_000070.3(CAPN3):c.1536+3A>G
|
|
|
NM_000070.3(CAPN3):c.1558_1559del (p.Leu520fs)
|
|
|
NM_000070.3(CAPN3):c.1642del (p.Arg548fs)
|
rs1555422293
|
|
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)
|
rs767739787
|
|
NM_000070.3(CAPN3):c.1690_1693dup (p.Gln565fs)
|
rs1555422298
|
|
NM_000070.3(CAPN3):c.1711del (p.Leu571fs)
|
rs1334369407
|
|
NM_000070.3(CAPN3):c.1742C>G (p.Ser581Cys)
|
|
|
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)
|
rs886042573
|
|
NM_000070.3(CAPN3):c.1782+2T>C
|
rs754930571
|
|
NM_000070.3(CAPN3):c.1783-5_1784del
|
|
|
NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter)
|
rs1555422839
|
|
NM_000070.3(CAPN3):c.1882del (p.Thr628fs)
|
rs1555422847
|
|
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)
|
rs1595844413
|
|
NM_000070.3(CAPN3):c.1910dup (p.Gln638fs)
|
|
|
NM_000070.3(CAPN3):c.1914+2T>C
|
rs1555422856
|
|
NM_000070.3(CAPN3):c.1944_1945del (p.Ser648fs)
|
rs1555422954
|
|
NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter)
|
rs777636094
|
|
NM_000070.3(CAPN3):c.1963del (p.Arg655fs)
|
rs1566984441
|
|
NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter)
|
rs1555423015
|
|
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs)
|
rs1555423021
|
|
NM_000070.3(CAPN3):c.2042_2043del (p.Val681fs)
|
|
|
NM_000070.3(CAPN3):c.2050+1del
|
rs1555423027
|
|
NM_000070.3(CAPN3):c.2051-1G>C
|
rs886042108
|
|
NM_000070.3(CAPN3):c.2083G>T (p.Glu695Ter)
|
rs2054157050
|
|
NM_000070.3(CAPN3):c.2112_2115+2del
|
|
|
NM_000070.3(CAPN3):c.2115+1_2115+2dup
|
rs760919949
|
|
NM_000070.3(CAPN3):c.2116-1G>C
|
|
|
NM_000070.3(CAPN3):c.212del (p.Lys71fs)
|
rs1555417321
|
|
NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del)
|
|
|
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)
|
rs770894443
|
|
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)
|
rs774048414
|
|
NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter)
|
rs2054179951
|
|
NM_000070.3(CAPN3):c.2184+2T>C
|
rs1555423146
|
|
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs)
|
rs587780289
|
|
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter)
|
rs1595847257
|
|
NM_000070.3(CAPN3):c.2236G>T (p.Glu746Ter)
|
|
|
NM_000070.3(CAPN3):c.2256_2257del (p.Asn752fs)
|
|
|
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)
|
rs775130589
|
|
NM_000070.3(CAPN3):c.2281C>T (p.Gln761Ter)
|
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.2309A>G (p.Tyr770Cys)
|
rs2141225644
|
|
NM_000070.3(CAPN3):c.2312C>T (p.Ala771Val)
|
rs752397587
|
|
NM_000070.3(CAPN3):c.2333_2336dup (p.Phe779fs)
|
|
|
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter)
|
rs1447774727
|
|
NM_000070.3(CAPN3):c.2380+1G>T
|
rs1555423222
|
|
NM_000070.3(CAPN3):c.2380+2T>G
|
rs761935462
|
|
NM_000070.3(CAPN3):c.2380A>T (p.Arg794Ter)
|
rs2054206966
|
|
NM_000070.3(CAPN3):c.2381-2A>G
|
rs863224962
|
|
NM_000070.3(CAPN3):c.2439+1G>T
|
|
|
NM_000070.3(CAPN3):c.2440-1G>C
|
rs886044052
|
|
NM_000070.3(CAPN3):c.290dup (p.Val98fs)
|
rs1595794433
|
|
NM_000070.3(CAPN3):c.2T>C (p.Met1Thr)
|
rs1555417257
|
|
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)
|
rs797045427
|
|
NM_000070.3(CAPN3):c.343G>T (p.Gly115Ter)
|
rs2053335168
|
|
NM_000070.3(CAPN3):c.352A>G (p.Arg118Gly)
|
rs1566973583
|
|
NM_000070.3(CAPN3):c.369del (p.Gly124fs)
|
rs1555420083
|
|
NM_000070.3(CAPN3):c.379+1G>A
|
|
|
NM_000070.3(CAPN3):c.379+3A>T
|
rs1164215001
|
|
NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg)
|
|
|
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)
|
rs1555420462
|
|
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)
|
rs1555420468
|
|
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)
|
rs2053442769
|
|
NM_000070.3(CAPN3):c.543C>A (p.Cys181Ter)
|
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.555C>G (p.Tyr185Ter)
|
|
|
NM_000070.3(CAPN3):c.580del (p.Ser194fs)
|
rs398123149
|
|
NM_000070.3(CAPN3):c.59del (p.Pro20fs)
|
rs1555417271
|
|
NM_000070.3(CAPN3):c.632+1del
|
rs1566975163
|
|
NM_000070.3(CAPN3):c.633-1G>A
|
|
|
NM_000070.3(CAPN3):c.641G>A (p.Gly214Asp)
|
rs761430243
|
|
NM_000070.3(CAPN3):c.643T>C (p.Ser215Pro)
|
rs2053478068
|
|
NM_000070.3(CAPN3):c.661G>A (p.Gly221Ser)
|
rs1432632972
|
|
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)
|
rs1555420634
|
|
NM_000070.3(CAPN3):c.717del (p.Phe239fs)
|
rs776059672
|
|
NM_000070.3(CAPN3):c.728_762dup (p.Ala255delinsMetLeuLeuValThrCysThrArgSerTer)
|
|
|
NM_000070.3(CAPN3):c.741_751del (p.Met248fs)
|
rs1555420647
|
|
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)
|
rs757448865
|
|
NM_000070.3(CAPN3):c.754A>G (p.Met252Val)
|
rs2053483911
|
|
NM_000070.3(CAPN3):c.760A>T (p.Lys254Ter)
|
|
|
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)
|
rs2053484604
|
|
NM_000070.3(CAPN3):c.802-1G>A
|
|
|
NM_000070.3(CAPN3):c.802-2A>G
|
rs2141170197
|
|
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)
|
rs1555420765
|
|
NM_000070.3(CAPN3):c.945+1G>A
|
|
|
NM_000070.3(CAPN3):c.945+1G>T
|
rs1375420170
|
|
NM_000070.3(CAPN3):c.946-1_948del
|
rs766156798
|
|
NM_000070.3(CAPN3):c.956C>G (p.Pro319Arg)
|
|
|
NM_000070.3(CAPN3):c.973A>T (p.Arg325Ter)
|
rs2053589887
|
|
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)
|
rs1085307995
|
|
NM_000070.3:g.(42408325_42409302)_(42412214_?)del
|
|
|