NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
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.2306G>A (p.Arg769Gln)
|
rs80338802
|
0.00014
|
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)
|
rs376107921
|
0.00013
|
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs)
|
rs761897806
|
0.00009
|
NM_000070.3(CAPN3):c.2362_2363insTC (p.Arg788fs)
|
rs80338804
|
0.00009
|
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)
|
rs767106920
|
0.00006
|
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.499-1G>A
|
rs863224964
|
0.00006
|
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
|
rs200379491
|
0.00005
|
NM_000070.3(CAPN3):c.258dup (p.Leu87fs)
|
rs753360208
|
0.00005
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)
|
rs863224959
|
0.00004
|
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.1939G>T (p.Glu647Ter)
|
rs863224960
|
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.1800+2T>C
|
rs748194118
|
0.00002
|
NM_000070.3(CAPN3):c.1801-1G>A
|
rs886043752
|
0.00002
|
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)
|
rs768090444
|
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.566T>C (p.Leu189Pro)
|
rs758795961
|
0.00002
|
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)
|
rs766334893
|
0.00001
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000070.3(CAPN3):c.1084C>T (p.Gln362Ter)
|
rs965032792
|
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.1448C>A (p.Ala483Asp)
|
rs781723572
|
0.00001
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)
|
rs863224957
|
0.00001
|
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter)
|
rs886042439
|
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.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)
|
rs762471207
|
0.00001
|
NM_000070.3(CAPN3):c.1A>G (p.Met1Val)
|
rs1566965796
|
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.2184G>A (p.Gln728=)
|
rs886043220
|
0.00001
|
NM_000070.3(CAPN3):c.2185-2A>G
|
rs886041335
|
0.00001
|
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)
|
rs750083132
|
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.257C>T (p.Ser86Phe)
|
rs121434546
|
0.00001
|
NM_000070.3(CAPN3):c.2del (p.Met1fs)
|
rs1566965806
|
0.00001
|
NM_000070.3(CAPN3):c.379+3A>G
|
rs1164215001
|
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.743T>G (p.Met248Arg)
|
rs777829958
|
0.00001
|
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)
|
rs1555420652
|
0.00001
|
NM_000070.3(CAPN3):c.853dup (p.Glu285fs)
|
rs761257703
|
0.00001
|
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)
|
rs121434547
|
0.00001
|
NC_000015.10:g.(?_42359796)_(42360124_?)del
|
|
|
NC_000015.10:g.(?_42384473)_(42390106_?)del
|
|
|
NC_000015.10:g.(?_42384473)_(42392732_?)del
|
|
|
NC_000015.10:g.(?_42384473)_(42394351_?)del
|
|
|
NC_000015.10:g.(?_42394246)_(42394351_?)del
|
|
|
NC_000015.10:g.(?_42396790)_(42404849_?)del
|
|
|
NC_000015.9:g.(?_42650583)_(42687745_?)del
|
|
|
NC_000015.9:g.(?_42651994)_(42695985_?)del
|
|
|
NC_000015.9:g.(?_42652004)_(42703563_?)del
|
|
|
NC_000015.9:g.(?_42676661)_(42684940_?)del
|
|
|
NC_000015.9:g.(?_42676661)_(42686559_?)del
|
|
|
NC_000015.9:g.(?_42676671)_(42689085_?)del
|
|
|
NC_000015.9:g.(?_42686444)_(42697047_?)del
|
|
|
NC_000015.9:g.(?_42691680)_(42703981_?)del
|
|
|
NC_000015.9:g.(?_42694952)_(42698151_?)del
|
|
|
NC_000015.9:g.(?_42698114)_(42703981_?)del
|
|
|
NC_000015.9:g.(?_42701491)_(42703981_?)del
|
|
|
NC_000015.9:g.(?_42702616)_(42702874_?)del
|
|
|
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)
|
rs863224965
|
|
NM_000070.2(CAPN3):c.[1319G>A];[319G>T]
|
|
|
NM_000070.3(CAPN3):c.1002del (p.His334fs)
|
|
|
NM_000070.3(CAPN3):c.1008C>G (p.Tyr336Ter)
|
|
|
NM_000070.3(CAPN3):c.100del (p.Ala34fs)
|
rs2052593499
|
|
NM_000070.3(CAPN3):c.1012_1013del (p.Val338fs)
|
rs2141176996
|
|
NM_000070.3(CAPN3):c.1029+1G>A
|
rs2141177054
|
|
NM_000070.3(CAPN3):c.1030-1G>A
|
rs1555421263
|
|
NM_000070.3(CAPN3):c.1043del (p.Gly348fs)
|
rs781013226
|
|
NM_000070.3(CAPN3):c.1050del (p.Lys350_Val351insTer)
|
|
|
NM_000070.3(CAPN3):c.1055del (p.Lys352fs)
|
|
|
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)
|
rs794727895
|
|
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)
|
rs1555421280
|
|
NM_000070.3(CAPN3):c.107del (p.Gly36fs)
|
|
|
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)
|
rs267606703
|
|
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)
|
rs1595828703
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)
|
rs1555421523
|
|
NM_000070.3(CAPN3):c.1120_1171del (p.Lys374fs)
|
|
|
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter)
|
rs1555421524
|
|
NM_000070.3(CAPN3):c.1143del (p.Asp382fs)
|
|
|
NM_000070.3(CAPN3):c.1162C>T (p.Gln388Ter)
|
|
|
NM_000070.3(CAPN3):c.1193+6T>A
|
rs1555421532
|
|
NM_000070.3(CAPN3):c.1194-2A>G
|
rs2053804014
|
|
NM_000070.3(CAPN3):c.1207_1216del (p.Asp403fs)
|
|
|
NM_000070.3(CAPN3):c.1236_1288dup (p.Thr430fs)
|
|
|
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)
|
rs1293496023
|
|
NM_000070.3(CAPN3):c.1322del (p.Gly441fs)
|
rs1555421871
|
|
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro)
|
rs1595834751
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)
|
rs773827877
|
|
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)
|
rs776043976
|
|
NM_000070.3(CAPN3):c.136_145del (p.Ile46fs)
|
|
|
NM_000070.3(CAPN3):c.1455del (p.Met485fs)
|
rs2053876698
|
|
NM_000070.3(CAPN3):c.1456C>T (p.Gln486Ter)
|
rs2141199686
|
|
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
|
rs863224958
|
|
NM_000070.3(CAPN3):c.1470del (p.Lys491fs)
|
|
|
NM_000070.3(CAPN3):c.1485del (p.Ala497fs)
|
rs1595837172
|
|
NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg)
|
rs761637940
|
|
NM_000070.3(CAPN3):c.1507_1511del (p.Gly503fs)
|
|
|
NM_000070.3(CAPN3):c.1513_1519dup (p.Tyr507fs)
|
|
|
NM_000070.3(CAPN3):c.1515_1518dup (p.Tyr507fs)
|
rs2141199970
|
|
NM_000070.3(CAPN3):c.1524+1G>A
|
rs1275289254
|
|
NM_000070.3(CAPN3):c.1524+1G>C
|
|
|
NM_000070.3(CAPN3):c.1524+1G>T
|
rs1275289254
|
|
NM_000070.3(CAPN3):c.1536+1G>T
|
|
|
NM_000070.3(CAPN3):c.1552C>T (p.Gln518Ter)
|
|
|
NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter)
|
rs2053910936
|
|
NM_000070.3(CAPN3):c.1576del (p.Leu526fs)
|
rs1595838545
|
|
NM_000070.3(CAPN3):c.1590dup (p.Lys531fs)
|
rs2141202919
|
|
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)
|
rs767739787
|
|
NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter)
|
rs752848213
|
|
NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His)
|
|
|
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)
|
rs727503839
|
|
NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser)
|
rs886044483
|
|
NM_000070.3(CAPN3):c.1712del (p.Leu571fs)
|
|
|
NM_000070.3(CAPN3):c.1722del (p.Ser575fs)
|
rs1366387924
|
|
NM_000070.3(CAPN3):c.1740_1743del (p.Ser581fs)
|
rs2141203435
|
|
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)
|
rs886042573
|
|
NM_000070.3(CAPN3):c.1771del (p.Asp591fs)
|
rs754761503
|
|
NM_000070.3(CAPN3):c.1782+1072G>C
|
rs2053974373
|
|
NM_000070.3(CAPN3):c.1788_1791del (p.Lys598fs)
|
rs2141210355
|
|
NM_000070.3(CAPN3):c.1792_1795del (p.Lys598fs)
|
|
|
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)
|
rs80338803
|
|
NM_000070.3(CAPN3):c.1838del (p.Lys613fs)
|
rs1555422832
|
|
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter)
|
rs1566983844
|
|
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs)
|
rs2054085839
|
|
NM_000070.3(CAPN3):c.1895_1913dup (p.Pro639fs)
|
rs2141216768
|
|
NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)
|
|
|
NM_000070.3(CAPN3):c.1933del (p.Asp645fs)
|
rs1595845459
|
|
NM_000070.3(CAPN3):c.1936C>T (p.Gln646Ter)
|
|
|
NM_000070.3(CAPN3):c.193del (p.His65fs)
|
rs2141102601
|
|
NM_000070.3(CAPN3):c.1963del (p.Arg655fs)
|
rs1566984441
|
|
NM_000070.3(CAPN3):c.1974_1975insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCGGAACATTTTC (p.Lys659fs)
|
|
|
NM_000070.3(CAPN3):c.1977_1978delinsCT (p.Lys659_Gln660delinsAsnTer)
|
rs2141219910
|
|
NM_000070.3(CAPN3):c.1978C>T (p.Gln660Ter)
|
|
|
NM_000070.3(CAPN3):c.1983dup (p.Ala662fs)
|
|
|
NM_000070.3(CAPN3):c.1985del (p.Ala662fs)
|
rs2141219970
|
|
NM_000070.3(CAPN3):c.1986del (p.Gly663fs)
|
|
|
NM_000070.3(CAPN3):c.1992+1G>A
|
|
|
NM_000070.3(CAPN3):c.1992+1G>T
|
rs863224961
|
|
NM_000070.3(CAPN3):c.1999G>T (p.Glu667Ter)
|
rs2141221307
|
|
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs)
|
rs886044004
|
|
NM_000070.3(CAPN3):c.2019dup (p.Lys674fs)
|
rs2141221357
|
|
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs)
|
rs1555423021
|
|
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs)
|
rs886042418
|
|
NM_000070.3(CAPN3):c.2048_2051del (p.Lys683fs)
|
rs2054150380
|
|
NM_000070.3(CAPN3):c.2050+1G>A
|
rs768374736
|
|
NM_000070.3(CAPN3):c.2050+1G>C
|
rs768374736
|
|
NM_000070.3(CAPN3):c.2050+1del
|
rs1555423027
|
|
NM_000070.3(CAPN3):c.2050+1dup
|
rs2141221533
|
|
NM_000070.3(CAPN3):c.2051-1G>T
|
rs886042108
|
|
NM_000070.3(CAPN3):c.2069_2070del (p.His690fs)
|
rs1555423046
|
|
NM_000070.3(CAPN3):c.2118_2121del (p.Asp707fs)
|
rs1595846922
|
|
NM_000070.3(CAPN3):c.2119G>C (p.Asp707His)
|
rs886044427
|
|
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)
|
rs794727318
|
|
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.2179del (p.Trp727fs)
|
rs886042964
|
|
NM_000070.3(CAPN3):c.219del (p.Leu74fs)
|
rs2141102673
|
|
NM_000070.3(CAPN3):c.2201_2202del (p.His733_Tyr734insTer)
|
rs2054185246
|
|
NM_000070.3(CAPN3):c.2201del (p.Tyr734fs)
|
rs2141224217
|
|
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.2217C>G (p.Ser739=)
|
rs148851444
|
|
NM_000070.3(CAPN3):c.2226_2240del (p.Ile742_Glu746del)
|
|
|
NM_000070.3(CAPN3):c.2230del (p.Ser744fs)
|
rs2054186817
|
|
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter)
|
rs147774793
|
|
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)
|
rs398123146
|
|
NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly)
|
rs768090444
|
|
NM_000070.3(CAPN3):c.2255dup (p.Asn752fs)
|
|
|
NM_000070.3(CAPN3):c.2263+1G>A
|
rs886044475
|
|
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)
|
rs775130589
|
|
NM_000070.3(CAPN3):c.2301del (p.Met768fs)
|
rs2141225604
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)
|
rs764086484
|
|
NM_000070.3(CAPN3):c.2318_2321dup (p.His774fs)
|
rs1457010016
|
|
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter)
|
rs1447774727
|
|
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)
|
rs1555423217
|
|
NM_000070.3(CAPN3):c.237del (p.Glu79fs)
|
rs760205277
|
|
NM_000070.3(CAPN3):c.2380+1G>A
|
rs1555423222
|
|
NM_000070.3(CAPN3):c.2380+1G>T
|
rs1555423222
|
|
NM_000070.3(CAPN3):c.2380+2T>G
|
rs761935462
|
|
NM_000070.3(CAPN3):c.2381-2A>G
|
rs863224962
|
|
NM_000070.3(CAPN3):c.2440-2A>G
|
rs769688710
|
|
NM_000070.3(CAPN3):c.245del (p.Pro82fs)
|
|
|
NM_000070.3(CAPN3):c.257del (p.Ser86fs)
|
|
|
NM_000070.3(CAPN3):c.261_262del (p.Phe88fs)
|
rs763649825
|
|
NM_000070.3(CAPN3):c.264_265del (p.Phe88fs)
|
rs2141102811
|
|
NM_000070.3(CAPN3):c.286C>T (p.Gln96Ter)
|
rs1476836379
|
|
NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu)
|
rs758058910
|
|
NM_000070.3(CAPN3):c.319G>T (p.Glu107Ter)
|
rs1801505
|
|
NM_000070.3(CAPN3):c.321_330del (p.Glu107fs)
|
|
|
NM_000070.3(CAPN3):c.322_334dup (p.Ile112fs)
|
rs1555420075
|
|
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)
|
rs797045427
|
|
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)
|
rs121434545
|
|
NM_000070.3(CAPN3):c.346del (p.Ala116fs)
|
|
|
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp)
|
rs2053335268
|
|
NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys)
|
rs886043437
|
|
NM_000070.3(CAPN3):c.3G>T (p.Met1Ile)
|
|
|
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.509dup (p.Tyr170Ter)
|
rs1595821204
|
|
NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)
|
rs1555420475
|
|
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)
|
rs2053442769
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.562del (p.Gln188fs)
|
rs1566975090
|
|
NM_000070.3(CAPN3):c.580del (p.Ser194fs)
|
rs398123149
|
|
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)
|
rs727503837
|
|
NM_000070.3(CAPN3):c.59del (p.Pro20fs)
|
rs1555417271
|
|
NM_000070.3(CAPN3):c.608C>G (p.Ala203Gly)
|
rs763719290
|
|
NM_000070.3(CAPN3):c.60del (p.Pro22fs)
|
rs1566965857
|
|
NM_000070.3(CAPN3):c.616del (p.Glu206fs)
|
rs2053446296
|
|
NM_000070.3(CAPN3):c.626dup (p.Tyr209Ter)
|
|
|
NM_000070.3(CAPN3):c.632+4A>G
|
rs1555420507
|
|
NM_000070.3(CAPN3):c.63del (p.Pro22fs)
|
|
|
NM_000070.3(CAPN3):c.648C>G (p.Tyr216Ter)
|
rs138846390
|
|
NM_000070.3(CAPN3):c.664G>C (p.Gly222Arg)
|
|
|
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)
|
rs1555420634
|
|
NM_000070.3(CAPN3):c.717del (p.Phe239fs)
|
rs776059672
|
|
NM_000070.3(CAPN3):c.717dup (p.Glu240Ter)
|
rs776059672
|
|
NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs)
|
rs1555420642
|
|
NM_000070.3(CAPN3):c.735_741del (p.Ser246fs)
|
|
|
NM_000070.3(CAPN3):c.741_751del (p.Met248fs)
|
rs1555420647
|
|
NM_000070.3(CAPN3):c.742_743del (p.Met248fs)
|
rs1064793620
|
|
NM_000070.3(CAPN3):c.746dup (p.Tyr249Ter)
|
|
|
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)
|
rs794727697
|
|
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)
|
rs2053484604
|
|
NM_000070.3(CAPN3):c.796del (p.Ile266fs)
|
rs2053485642
|
|
NM_000070.3(CAPN3):c.801+1G>A
|
rs1459288402
|
|
NM_000070.3(CAPN3):c.801+2T>G
|
|
|
NM_000070.3(CAPN3):c.806del (p.Gly269fs)
|
rs2053509916
|
|
NM_000070.3(CAPN3):c.817del (p.Thr273fs)
|
|
|
NM_000070.3(CAPN3):c.819del (p.Tyr274fs)
|
|
|
NM_000070.3(CAPN3):c.855_864dup (p.Arg289fs)
|
rs398123150
|
|
NM_000070.3(CAPN3):c.871del (p.Met290_Val291insTer)
|
|
|
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)
|
rs863224966
|
|
NM_000070.3(CAPN3):c.898C>T (p.Gln300Ter)
|
rs2141170517
|
|
NM_000070.3(CAPN3):c.946-1G>A
|
rs80338801
|
|
NM_000070.3(CAPN3):c.946-1_948del
|
rs766156798
|
|
NM_000070.3(CAPN3):c.946-2A>G
|
rs1595826673
|
|
NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)
|
rs750443041
|
|
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg)
|
rs1085307995
|
|