NM_000070.3(CAPN3):c.*134C>T
|
rs3098423
|
0.97772
|
NM_000070.3(CAPN3):c.1992+110T>C
|
rs3115883
|
0.77192
|
NM_000070.3(CAPN3):c.1537-48T>C
|
rs2241827
|
0.76381
|
NM_000070.3(CAPN3):c.2381-79T>C
|
rs3115884
|
0.44779
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
NM_000070.3(CAPN3):c.1194-26C>G
|
rs3743003
|
0.13055
|
NM_000070.3(CAPN3):c.633-69G>A
|
rs4924675
|
0.12331
|
NM_000070.3(CAPN3):c.96T>C (p.Thr32=)
|
rs1801496
|
0.09551
|
NM_000070.3(CAPN3):c.606T>C (p.Ser202=)
|
rs17593
|
0.05293
|
NM_000070.3(CAPN3):c.2380+12del
|
rs28364538
|
0.04623
|
NM_000070.3(CAPN3):c.1746-64C>T
|
rs17764849
|
0.03691
|
NM_000070.3(CAPN3):c.1029+3A>G
|
rs28364442
|
0.03285
|
NM_000070.3(CAPN3):c.78G>A (p.Pro26=)
|
rs62642519
|
0.01774
|
NM_000070.3(CAPN3):c.-104G>C
|
rs149698681
|
0.01241
|
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)
|
rs28364364
|
0.01193
|
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)
|
rs28364543
|
0.01154
|
NM_000070.3(CAPN3):c.1116-5A>G
|
rs28364467
|
0.01144
|
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)
|
rs35889956
|
0.01026
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr)
|
rs61735534
|
0.00885
|
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)
|
rs1801505
|
0.00719
|
NM_000070.3(CAPN3):c.939G>A (p.Pro313=)
|
rs78369269
|
0.00698
|
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)
|
rs28364441
|
0.00600
|
NM_000070.3(CAPN3):c.2381-12A>G
|
rs73402734
|
0.00578
|
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)
|
rs117609395
|
0.00495
|
NM_000070.3(CAPN3):c.1537-33G>A
|
rs143412460
|
0.00363
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_000070.3(CAPN3):c.-131G>T
|
rs113881834
|
0.00309
|
NM_000070.3(CAPN3):c.930T>C (p.Asp310=)
|
rs150356488
|
0.00259
|
NM_000070.3(CAPN3):c.2264-11C>T
|
rs28364537
|
0.00195
|
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=)
|
rs144944366
|
0.00167
|
NM_000070.3(CAPN3):c.1800+21C>T
|
rs201512120
|
0.00156
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00064
|
NM_000070.3(CAPN3):c.2380+19C>T
|
rs141234995
|
0.00053
|
NM_000070.3(CAPN3):c.1746-7C>G
|
rs199978708
|
0.00051
|
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)
|
rs138172448
|
0.00048
|
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)
|
rs147774793
|
0.00044
|
NM_000070.3(CAPN3):c.*202A>G
|
rs886051150
|
0.00043
|
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)
|
rs146309264
|
0.00039
|
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)
|
rs143139259
|
0.00036
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00034
|
NM_000070.3(CAPN3):c.246G>A (p.Pro82=)
|
rs146529432
|
0.00034
|
NM_000070.3(CAPN3):c.294C>G (p.Val98=)
|
rs147493037
|
0.00034
|
NM_000070.3(CAPN3):c.2292C>T (p.Asp764=)
|
rs187279903
|
0.00033
|
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)
|
rs138867099
|
0.00031
|
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)
|
rs201607149
|
0.00029
|
NM_000070.3(CAPN3):c.*237A>G
|
rs753401049
|
0.00028
|
NM_000070.3(CAPN3):c.310-20A>C
|
rs537236363
|
0.00027
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys)
|
rs146253209
|
0.00024
|
NM_000070.3(CAPN3):c.1813G>A (p.Val605Ile)
|
rs200759807
|
0.00022
|
NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys)
|
rs199718635
|
0.00022
|
NM_000070.3(CAPN3):c.*265C>T
|
rs74009086
|
0.00021
|
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=)
|
rs28364528
|
0.00021
|
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)
|
rs199884116
|
0.00018
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
NM_000070.3(CAPN3):c.*534T>C
|
rs772498665
|
0.00016
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)
|
rs202019404
|
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.721A>G (p.Ile241Val)
|
rs141948992
|
0.00015
|
NM_000070.3(CAPN3):c.950T>C (p.Ile317Thr)
|
rs371362494
|
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.1774C>T (p.Arg592Trp)
|
rs373512834
|
0.00013
|
NM_000070.3(CAPN3):c.1800+12G>A
|
rs542523863
|
0.00013
|
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg)
|
rs140425651
|
0.00013
|
NM_000070.3(CAPN3):c.897C>A (p.Leu299=)
|
rs370313391
|
0.00013
|
NM_000070.3(CAPN3):c.*211G>A
|
rs112661890
|
0.00012
|
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=)
|
rs144260889
|
0.00012
|
NM_000070.3(CAPN3):c.24T>C (p.Ser8=)
|
rs748952956
|
0.00012
|
NM_000070.3(CAPN3):c.552G>A (p.Thr184=)
|
rs147808529
|
0.00012
|
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=)
|
rs370231427
|
0.00011
|
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser)
|
rs187054121
|
0.00011
|
NM_000070.3(CAPN3):c.292G>A (p.Val98Ile)
|
rs368585092
|
0.00011
|
NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala)
|
rs775742866
|
0.00011
|
NM_000070.3(CAPN3):c.2217C>T (p.Ser739=)
|
rs148851444
|
0.00010
|
NM_000070.3(CAPN3):c.945+15G>A
|
rs567256305
|
0.00010
|
NM_000070.3(CAPN3):c.-300C>G
|
rs886051147
|
0.00009
|
NM_000070.3(CAPN3):c.1787A>G (p.Lys596Arg)
|
rs747461807
|
0.00009
|
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)
|
rs148246325
|
0.00009
|
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)
|
rs886043191
|
0.00009
|
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.2439+20C>T
|
rs371395429
|
0.00009
|
NM_000070.3(CAPN3):c.868A>T (p.Met290Leu)
|
rs747399155
|
0.00009
|
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln)
|
rs146403258
|
0.00008
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
NM_000070.3(CAPN3):c.2041G>A (p.Val681Met)
|
rs553169803
|
0.00008
|
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val)
|
rs149969786
|
0.00008
|
NM_000070.3(CAPN3):c.10G>A (p.Val4Ile)
|
rs140660066
|
0.00007
|
NM_000070.3(CAPN3):c.1354+20G>C
|
rs373486893
|
0.00007
|
NM_000070.3(CAPN3):c.2429A>G (p.Asn810Ser)
|
rs200485658
|
0.00007
|
NM_000070.3(CAPN3):c.41C>T (p.Ala14Val)
|
rs771263688
|
0.00007
|
NM_000070.3(CAPN3):c.*136C>T
|
rs980663241
|
0.00006
|
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=)
|
rs141934227
|
0.00006
|
NM_000070.3(CAPN3):c.1020G>T (p.Gly340=)
|
rs372401631
|
0.00006
|
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)
|
rs767106920
|
0.00006
|
NM_000070.3(CAPN3):c.1188G>A (p.Glu396=)
|
rs370355559
|
0.00006
|
NM_000070.3(CAPN3):c.1194-20C>T
|
rs371704768
|
0.00006
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
NM_000070.3(CAPN3):c.1263G>A (p.Leu421=)
|
rs372450879
|
0.00006
|
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=)
|
rs534326487
|
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.157A>G (p.Ile53Val)
|
rs144138775
|
0.00006
|
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr)
|
rs138857720
|
0.00006
|
NM_000070.3(CAPN3):c.1783-17T>G
|
rs1296074937
|
0.00006
|
NM_000070.3(CAPN3):c.1783-5T>C
|
rs780680647
|
0.00006
|
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=)
|
rs144383704
|
0.00006
|
NM_000070.3(CAPN3):c.2109C>T (p.Leu703=)
|
rs371577901
|
0.00006
|
NM_000070.3(CAPN3):c.2137A>G (p.Asn713Asp)
|
rs748363488
|
0.00006
|
NM_000070.3(CAPN3):c.2295C>T (p.Ile765=)
|
rs765507958
|
0.00006
|
NM_000070.3(CAPN3):c.286C>G (p.Gln96Glu)
|
rs1476836379
|
0.00006
|
NM_000070.3(CAPN3):c.308C>T (p.Pro103Leu)
|
rs148538711
|
0.00006
|
NM_000070.3(CAPN3):c.329G>A (p.Arg110Gln)
|
rs188108732
|
0.00006
|
NM_000070.3(CAPN3):c.499-13C>T
|
rs201344810
|
0.00006
|
NM_000070.3(CAPN3):c.499-1G>A
|
rs863224964
|
0.00006
|
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser)
|
rs371166254
|
0.00006
|
NM_000070.3(CAPN3):c.913G>A (p.Asp305Asn)
|
rs753780627
|
0.00006
|
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)
|
rs147914333
|
0.00005
|
NM_000070.3(CAPN3):c.1704A>G (p.Glu568=)
|
rs143066571
|
0.00005
|
NM_000070.3(CAPN3):c.184G>A (p.Glu62Lys)
|
rs370422576
|
0.00005
|
NM_000070.3(CAPN3):c.2050C>T (p.His684Tyr)
|
rs201566716
|
0.00005
|
NM_000070.3(CAPN3):c.2070C>T (p.His690=)
|
rs560701241
|
0.00005
|
NM_000070.3(CAPN3):c.2079A>G (p.Thr693=)
|
rs540561728
|
0.00005
|
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.835T>C (p.Ser279Pro)
|
rs755930521
|
0.00005
|
NM_000070.3(CAPN3):c.945+14C>T
|
rs763112832
|
0.00005
|
NM_000070.3(CAPN3):c.*443A>C
|
rs886051152
|
0.00004
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
NM_000070.3(CAPN3):c.1292T>C (p.Val431Ala)
|
rs199625801
|
0.00004
|
NM_000070.3(CAPN3):c.1308C>T (p.Gly436=)
|
rs372968945
|
0.00004
|
NM_000070.3(CAPN3):c.1524+3G>A
|
rs374188055
|
0.00004
|
NM_000070.3(CAPN3):c.1542C>T (p.His514=)
|
rs377215244
|
0.00004
|
NM_000070.3(CAPN3):c.1553A>G (p.Gln518Arg)
|
rs764593698
|
0.00004
|
NM_000070.3(CAPN3):c.1557C>T (p.His519=)
|
rs368385372
|
0.00004
|
NM_000070.3(CAPN3):c.1678A>G (p.Thr560Ala)
|
rs146845466
|
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.183C>T (p.Phe61=)
|
rs146069933
|
0.00004
|
NM_000070.3(CAPN3):c.1964G>A (p.Arg655Gln)
|
rs1049698745
|
0.00004
|
NM_000070.3(CAPN3):c.2040C>T (p.Val680=)
|
rs200583904
|
0.00004
|
NM_000070.3(CAPN3):c.2081T>G (p.Leu694Arg)
|
rs1355979542
|
0.00004
|
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)
|
rs190793093
|
0.00004
|
NM_000070.3(CAPN3):c.2184+3G>A
|
rs771917810
|
0.00004
|
NM_000070.3(CAPN3):c.2185-8A>G
|
rs1470041180
|
0.00004
|
NM_000070.3(CAPN3):c.2359G>A (p.Val787Ile)
|
rs755736723
|
0.00004
|
NM_000070.3(CAPN3):c.2440-13G>C
|
rs775849138
|
0.00004
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00004
|
NM_000070.3(CAPN3):c.255C>T (p.Thr85=)
|
rs773536127
|
0.00004
|
NM_000070.3(CAPN3):c.309+12C>T
|
rs200773265
|
0.00004
|
NM_000070.3(CAPN3):c.327C>T (p.Pro109=)
|
rs779130436
|
0.00004
|
NM_000070.3(CAPN3):c.349A>C (p.Asn117His)
|
rs1011699008
|
0.00004
|
NM_000070.3(CAPN3):c.499-18C>T
|
rs144299553
|
0.00004
|
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)
|
rs369784333
|
0.00004
|
NM_000070.3(CAPN3):c.821A>G (p.Tyr274Cys)
|
rs138914944
|
0.00004
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
NM_000070.3(CAPN3):c.980C>G (p.Ala327Gly)
|
rs754441267
|
0.00004
|
NM_000070.3(CAPN3):c.*395G>C
|
rs774343819
|
0.00003
|
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=)
|
rs759384108
|
0.00003
|
NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys)
|
rs919442493
|
0.00003
|
NM_000070.3(CAPN3):c.1290A>G (p.Thr430=)
|
rs757482856
|
0.00003
|
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn)
|
rs767281996
|
0.00003
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
NM_000070.3(CAPN3):c.1566G>A (p.Lys522=)
|
rs201116482
|
0.00003
|
NM_000070.3(CAPN3):c.1768G>A (p.Val590Met)
|
rs370809015
|
0.00003
|
NM_000070.3(CAPN3):c.1800+5G>A
|
rs373194123
|
0.00003
|
NM_000070.3(CAPN3):c.1869G>C (p.Glu623Asp)
|
rs1391429681
|
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.19G>A (p.Ala7Thr)
|
rs776827432
|
0.00003
|
NM_000070.3(CAPN3):c.2088C>A (p.Ser696=)
|
rs867628179
|
0.00003
|
NM_000070.3(CAPN3):c.2184+20C>T
|
rs371912707
|
0.00003
|
NM_000070.3(CAPN3):c.2236G>A (p.Glu746Lys)
|
rs752155690
|
0.00003
|
NM_000070.3(CAPN3):c.2440-16T>C
|
rs772187322
|
0.00003
|
NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp)
|
rs764247865
|
0.00003
|
NM_000070.3(CAPN3):c.594T>C (p.Asn198=)
|
rs771800732
|
0.00003
|
NM_000070.3(CAPN3):c.633-18C>T
|
rs376747480
|
0.00003
|
NM_000070.3(CAPN3):c.802-9G>A
|
rs761211705
|
0.00003
|
NM_000070.3(CAPN3):c.810G>A (p.Thr270=)
|
rs777076120
|
0.00003
|
NM_000070.3(CAPN3):c.905C>T (p.Ser302Leu)
|
rs1223779045
|
0.00003
|
NM_000070.3(CAPN3):c.912C>G (p.Leu304=)
|
rs374702796
|
0.00003
|
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu)
|
rs752483058
|
0.00003
|
NM_000070.3(CAPN3):c.*375C>T
|
rs1399469008
|
0.00002
|
NM_000070.3(CAPN3):c.-25G>C
|
rs1405523432
|
0.00002
|
NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp)
|
rs745967703
|
0.00002
|
NM_000070.3(CAPN3):c.1035G>A (p.Pro345=)
|
rs1203522520
|
0.00002
|
NM_000070.3(CAPN3):c.111A>G (p.Gly37=)
|
rs149536696
|
0.00002
|
NM_000070.3(CAPN3):c.1157G>A (p.Arg386His)
|
rs376273996
|
0.00002
|
NM_000070.3(CAPN3):c.1193+10G>C
|
rs374740787
|
0.00002
|
NM_000070.3(CAPN3):c.1194-7C>A
|
rs756139485
|
0.00002
|
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)
|
rs371784007
|
0.00002
|
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=)
|
rs751429914
|
0.00002
|
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=)
|
rs367855757
|
0.00002
|
NM_000070.3(CAPN3):c.1514C>T (p.Ala505Val)
|
rs756657325
|
0.00002
|
NM_000070.3(CAPN3):c.1581C>T (p.Tyr527=)
|
rs766467164
|
0.00002
|
NM_000070.3(CAPN3):c.1683C>T (p.Tyr561=)
|
rs1046912251
|
0.00002
|
NM_000070.3(CAPN3):c.1767C>T (p.Ser589=)
|
rs376429947
|
0.00002
|
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.2058C>G (p.Asp686Glu)
|
rs749614603
|
0.00002
|
NM_000070.3(CAPN3):c.2099T>C (p.Met700Thr)
|
rs762776236
|
0.00002
|
NM_000070.3(CAPN3):c.2218G>A (p.Gly740Ser)
|
rs398123145
|
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.2249C>T (p.Ala750Val)
|
rs371367772
|
0.00002
|
NM_000070.3(CAPN3):c.2263+14A>G
|
rs886038225
|
0.00002
|
NM_000070.3(CAPN3):c.2264-4A>G
|
rs770723094
|
0.00002
|
NM_000070.3(CAPN3):c.2310C>T (p.Tyr770=)
|
rs780810538
|
0.00002
|
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup)
|
rs753836989
|
0.00002
|
NM_000070.3(CAPN3):c.2358C>T (p.Phe786=)
|
rs576710955
|
0.00002
|
NM_000070.3(CAPN3):c.2381-11T>C
|
rs1471228630
|
0.00002
|
NM_000070.3(CAPN3):c.2440-1G>A
|
rs886044052
|
0.00002
|
NM_000070.3(CAPN3):c.270C>T (p.Ser90=)
|
rs753686702
|
0.00002
|
NM_000070.3(CAPN3):c.499-6G>A
|
rs371721054
|
0.00002
|
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)
|
rs758795961
|
0.00002
|
NM_000070.3(CAPN3):c.648C>T (p.Tyr216=)
|
rs138846390
|
0.00002
|
NM_000070.3(CAPN3):c.6G>A (p.Pro2=)
|
rs117480333
|
0.00002
|
NM_000070.3(CAPN3):c.801+8_801+9del
|
rs764551615
|
0.00002
|
NM_000070.3(CAPN3):c.944G>A (p.Arg315Gln)
|
rs201155077
|
0.00002
|
NM_000070.3(CAPN3):c.945+17T>A
|
rs774783950
|
0.00002
|
NM_000070.3(CAPN3):c.*436G>A
|
rs1285650098
|
0.00001
|
NM_000070.3(CAPN3):c.1016C>T (p.Thr339Met)
|
rs747193982
|
0.00001
|
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)
|
rs766334893
|
0.00001
|
NM_000070.3(CAPN3):c.1030-7G>A
|
rs886043344
|
0.00001
|
NM_000070.3(CAPN3):c.1034C>G (p.Pro345Arg)
|
rs746311413
|
0.00001
|
NM_000070.3(CAPN3):c.1034C>T (p.Pro345Leu)
|
rs746311413
|
0.00001
|
NM_000070.3(CAPN3):c.1062G>A (p.Val354=)
|
rs776793553
|
0.00001
|
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.1070G>A (p.Arg357Gln)
|
rs988027905
|
0.00001
|
NM_000070.3(CAPN3):c.1084C>T (p.Gln362Ter)
|
rs965032792
|
0.00001
|
NM_000070.3(CAPN3):c.1098C>T (p.Asn366=)
|
rs1026642848
|
0.00001
|
NM_000070.3(CAPN3):c.1113T>A (p.Asp371Glu)
|
rs774834498
|
0.00001
|
NM_000070.3(CAPN3):c.1115+8A>G
|
rs760196248
|
0.00001
|
NM_000070.3(CAPN3):c.1187A>G (p.Glu396Gly)
|
rs752046508
|
0.00001
|
NM_000070.3(CAPN3):c.1193+17G>A
|
rs1275648012
|
0.00001
|
NM_000070.3(CAPN3):c.1194-19T>A
|
rs994750194
|
0.00001
|
NM_000070.3(CAPN3):c.1194-9A>G
|
rs374665929
|
0.00001
|
NM_000070.3(CAPN3):c.1198T>A (p.Ser400Thr)
|
rs367863862
|
0.00001
|
NM_000070.3(CAPN3):c.1244A>G (p.Asn415Ser)
|
rs769367343
|
0.00001
|
NM_000070.3(CAPN3):c.1254C>T (p.Ala418=)
|
rs774754175
|
0.00001
|
NM_000070.3(CAPN3):c.1255G>A (p.Asp419Asn)
|
rs1177153235
|
0.00001
|
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)
|
rs139836397
|
0.00001
|
NM_000070.3(CAPN3):c.1269T>C (p.Ser423=)
|
rs760749559
|
0.00001
|
NM_000070.3(CAPN3):c.12C>T (p.Val4=)
|
rs755799559
|
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.1328C>T (p.Ser443Phe)
|
rs1471965884
|
0.00001
|
NM_000070.3(CAPN3):c.1332C>T (p.Ala444=)
|
rs886042968
|
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.1405G>A (p.Asp469Asn)
|
rs1272589475
|
0.00001
|
NM_000070.3(CAPN3):c.1410C>T (p.Asp470=)
|
rs371148431
|
0.00001
|
NM_000070.3(CAPN3):c.1443G>C (p.Leu481=)
|
rs941012884
|
0.00001
|
NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp)
|
rs781723572
|
0.00001
|
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met)
|
rs144220513
|
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.1478G>A (p.Arg493Gln)
|
rs143583537
|
0.00001
|
NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser)
|
rs1262587749
|
0.00001
|
NM_000070.3(CAPN3):c.1503C>T (p.Thr501=)
|
rs1462291517
|
0.00001
|
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val)
|
rs755433765
|
0.00001
|
NM_000070.3(CAPN3):c.1520A>G (p.Tyr507Cys)
|
rs771068557
|
0.00001
|
NM_000070.3(CAPN3):c.1536+14A>G
|
rs1011574532
|
0.00001
|
NM_000070.3(CAPN3):c.1536+16C>T
|
rs563510311
|
0.00001
|
NM_000070.3(CAPN3):c.1537-12C>T
|
rs749260802
|
0.00001
|
NM_000070.3(CAPN3):c.1537-3C>G
|
rs187600280
|
0.00001
|
NM_000070.3(CAPN3):c.1554G>A (p.Gln518=)
|
rs754289683
|
0.00001
|
NM_000070.3(CAPN3):c.1584C>T (p.Asn528=)
|
rs530529988
|
0.00001
|
NM_000070.3(CAPN3):c.1599G>A (p.Arg533=)
|
rs745805303
|
0.00001
|
NM_000070.3(CAPN3):c.159T>C (p.Ile53=)
|
rs1566965970
|
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.162C>T (p.Ile54=)
|
rs527776745
|
0.00001
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
NM_000070.3(CAPN3):c.1637G>A (p.Arg546His)
|
rs762091599
|
0.00001
|
NM_000070.3(CAPN3):c.163G>A (p.Gly55Arg)
|
rs753338235
|
0.00001
|
NM_000070.3(CAPN3):c.1647G>A (p.Leu549=)
|
rs2053913746
|
0.00001
|
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)
|
rs766405190
|
0.00001
|
NM_000070.3(CAPN3):c.1662C>T (p.Tyr554=)
|
rs752848213
|
0.00001
|
NM_000070.3(CAPN3):c.1673C>T (p.Pro558Leu)
|
rs546820887
|
0.00001
|
NM_000070.3(CAPN3):c.1686G>A (p.Glu562=)
|
rs569866483
|
0.00001
|
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys)
|
rs747819910
|
0.00001
|
NM_000070.3(CAPN3):c.1701G>C (p.Gly567=)
|
rs1595838740
|
0.00001
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
NM_000070.3(CAPN3):c.1745+7G>A
|
rs1219926521
|
0.00001
|
NM_000070.3(CAPN3):c.1745+8C>G
|
rs1278180136
|
0.00001
|
NM_000070.3(CAPN3):c.1746-4A>G
|
rs772180738
|
0.00001
|
NM_000070.3(CAPN3):c.1796C>A (p.Thr599Asn)
|
rs768832864
|
0.00001
|
NM_000070.3(CAPN3):c.1800+6T>G
|
rs866147687
|
0.00001
|
NM_000070.3(CAPN3):c.1801-10C>G
|
rs200931166
|
0.00001
|
NM_000070.3(CAPN3):c.1801-17C>T
|
rs1312106341
|
0.00001
|
NM_000070.3(CAPN3):c.1802C>T (p.Pro601Leu)
|
rs199739866
|
0.00001
|
NM_000070.3(CAPN3):c.1841A>G (p.Glu614Gly)
|
rs111525622
|
0.00001
|
NM_000070.3(CAPN3):c.1869G>A (p.Glu623=)
|
rs1391429681
|
0.00001
|
NM_000070.3(CAPN3):c.1886G>A (p.Ser629Asn)
|
rs1352460433
|
0.00001
|
NM_000070.3(CAPN3):c.18C>T (p.Ser6=)
|
rs144722502
|
0.00001
|
NM_000070.3(CAPN3):c.1914+10C>T
|
rs886042479
|
0.00001
|
NM_000070.3(CAPN3):c.1915C>A (p.Pro639Thr)
|
rs758654496
|
0.00001
|
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=)
|
rs79440238
|
0.00001
|
NM_000070.3(CAPN3):c.1951C>A (p.Gln651Lys)
|
rs1314405681
|
0.00001
|
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)
|
rs762471207
|
0.00001
|
NM_000070.3(CAPN3):c.1992+14A>G
|
rs777056130
|
0.00001
|
NM_000070.3(CAPN3):c.1992+3G>A
|
rs761188919
|
0.00001
|
NM_000070.3(CAPN3):c.1A>G (p.Met1Val)
|
rs1566965796
|
0.00001
|
NM_000070.3(CAPN3):c.2019C>G (p.Leu673=)
|
rs879491385
|
0.00001
|
NM_000070.3(CAPN3):c.201A>G (p.Lys67=)
|
rs1408315770
|
0.00001
|
NM_000070.3(CAPN3):c.2051-11C>T
|
rs886038224
|
0.00001
|
NM_000070.3(CAPN3):c.2051-8C>T
|
rs754375124
|
0.00001
|
NM_000070.3(CAPN3):c.2061G>A (p.Leu687=)
|
rs1566984937
|
0.00001
|
NM_000070.3(CAPN3):c.2066C>T (p.Thr689Ile)
|
rs1278777392
|
0.00001
|
NM_000070.3(CAPN3):c.2080C>T (p.Leu694=)
|
rs2054156832
|
0.00001
|
NM_000070.3(CAPN3):c.2091C>T (p.Cys697=)
|
rs760776617
|
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.2107C>T (p.Leu703Phe)
|
rs751443759
|
0.00001
|
NM_000070.3(CAPN3):c.2115+1G>A
|
rs766917640
|
0.00001
|
NM_000070.3(CAPN3):c.2116-6C>G
|
rs1287322728
|
0.00001
|
NM_000070.3(CAPN3):c.2116-9C>T
|
rs758850170
|
0.00001
|
NM_000070.3(CAPN3):c.2136C>G (p.Leu712=)
|
rs781619293
|
0.00001
|
NM_000070.3(CAPN3):c.2184G>A (p.Gln728=)
|
rs886043220
|
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.2185-6T>C
|
rs2054184679
|
0.00001
|
NM_000070.3(CAPN3):c.2199C>T (p.His733=)
|
rs1163171530
|
0.00001
|
NM_000070.3(CAPN3):c.2219G>A (p.Gly740Asp)
|
rs750162858
|
0.00001
|
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)
|
rs750083132
|
0.00001
|
NM_000070.3(CAPN3):c.2256C>T (p.Asn752=)
|
rs11557721
|
0.00001
|
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=)
|
rs755010088
|
0.00001
|
NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr)
|
rs137927542
|
0.00001
|
NM_000070.3(CAPN3):c.2263+9A>G
|
rs1270452281
|
0.00001
|
NM_000070.3(CAPN3):c.2264-9C>T
|
rs1455297263
|
0.00001
|
NM_000070.3(CAPN3):c.2282A>C (p.Gln761Pro)
|
rs373995517
|
0.00001
|
NM_000070.3(CAPN3):c.2284C>T (p.Leu762Phe)
|
rs1269949487
|
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.2331C>T (p.Ile777=)
|
rs745856298
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
NM_000070.3(CAPN3):c.2348T>G (p.Ile783Ser)
|
rs1309223901
|
0.00001
|
NM_000070.3(CAPN3):c.2381-19C>T
|
rs370531419
|
0.00001
|
NM_000070.3(CAPN3):c.2384C>G (p.Ala795Gly)
|
rs762967335
|
0.00001
|
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg)
|
rs766630908
|
0.00001
|
NM_000070.3(CAPN3):c.2427C>G (p.Leu809=)
|
rs765208496
|
0.00001
|
NM_000070.3(CAPN3):c.2430C>T (p.Asn810=)
|
rs926395403
|
0.00001
|
NM_000070.3(CAPN3):c.2439+9T>C
|
rs746615699
|
0.00001
|
NM_000070.3(CAPN3):c.2440-3C>G
|
rs761757153
|
0.00001
|
NM_000070.3(CAPN3):c.2454C>T (p.Thr818=)
|
rs1439638044
|
0.00001
|
NM_000070.3(CAPN3):c.2463C>T (p.Ala821=)
|
rs751041366
|
0.00001
|
NM_000070.3(CAPN3):c.2465G>T (p.Ter822Leu)
|
rs1162942997
|
0.00001
|
NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)
|
rs121434546
|
0.00001
|
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val)
|
rs558925493
|
0.00001
|
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu)
|
rs760626912
|
0.00001
|
NM_000070.3(CAPN3):c.279C>T (p.Phe93=)
|
rs761435000
|
0.00001
|
NM_000070.3(CAPN3):c.291C>T (p.Phe97=)
|
rs758058910
|
0.00001
|
NM_000070.3(CAPN3):c.2del (p.Met1fs)
|
rs1566965806
|
0.00001
|
NM_000070.3(CAPN3):c.309G>A (p.Pro103=)
|
rs376146681
|
0.00001
|
NM_000070.3(CAPN3):c.351C>T (p.Asn117=)
|
rs772886155
|
0.00001
|
NM_000070.3(CAPN3):c.363C>G (p.Ile121Met)
|
rs901764287
|
0.00001
|
NM_000070.3(CAPN3):c.369A>G (p.Gln123=)
|
rs774155921
|
0.00001
|
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala)
|
rs587780291
|
0.00001
|
NM_000070.3(CAPN3):c.379+11G>A
|
rs371195831
|
0.00001
|
NM_000070.3(CAPN3):c.379+3A>G
|
rs1164215001
|
0.00001
|
NM_000070.3(CAPN3):c.42G>A (p.Ala14=)
|
rs574443072
|
0.00001
|
NM_000070.3(CAPN3):c.505C>T (p.Arg169Cys)
|
rs1349313665
|
0.00001
|
NM_000070.3(CAPN3):c.538G>A (p.Asp180Asn)
|
rs767477904
|
0.00001
|
NM_000070.3(CAPN3):c.53G>A (p.Arg18Gln)
|
rs1375691407
|
0.00001
|
NM_000070.3(CAPN3):c.550A>G (p.Thr184Ala)
|
rs1159580160
|
0.00001
|
NM_000070.3(CAPN3):c.561T>C (p.Asn187=)
|
rs750787615
|
0.00001
|
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val)
|
rs763719290
|
0.00001
|
NM_000070.3(CAPN3):c.614T>C (p.Leu205Pro)
|
rs1001356986
|
0.00001
|
NM_000070.3(CAPN3):c.627T>C (p.Tyr209=)
|
rs765012463
|
0.00001
|
NM_000070.3(CAPN3):c.632+3A>G
|
rs201660362
|
0.00001
|
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)
|
rs779701414
|
0.00001
|
NM_000070.3(CAPN3):c.635T>C (p.Leu212Pro)
|
rs886042100
|
0.00001
|
NM_000070.3(CAPN3):c.637C>T (p.His213Tyr)
|
rs747017866
|
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.702G>A (p.Gly234=)
|
rs766821209
|
0.00001
|
NM_000070.3(CAPN3):c.743T>G (p.Met248Arg)
|
rs777829958
|
0.00001
|
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg)
|
rs779939785
|
0.00001
|
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)
|
rs1555420652
|
0.00001
|
NM_000070.3(CAPN3):c.769G>A (p.Glu257Lys)
|
rs1368398872
|
0.00001
|
NM_000070.3(CAPN3):c.777C>T (p.Gly259=)
|
rs762739626
|
0.00001
|
NM_000070.3(CAPN3):c.797T>C (p.Ile266Thr)
|
rs761142449
|
0.00001
|
NM_000070.3(CAPN3):c.7A>G (p.Thr3Ala)
|
rs761238719
|
0.00001
|
NM_000070.3(CAPN3):c.801+19G>A
|
rs767858015
|
0.00001
|
NM_000070.3(CAPN3):c.801T>C (p.Asp267=)
|
rs1271482252
|
0.00001
|
NM_000070.3(CAPN3):c.802-10C>T
|
rs747895099
|
0.00001
|
NM_000070.3(CAPN3):c.813C>G (p.Asn271Lys)
|
rs765292152
|
0.00001
|
NM_000070.3(CAPN3):c.847A>G (p.Met283Val)
|
rs756786521
|
0.00001
|
NM_000070.3(CAPN3):c.853dup (p.Glu285fs)
|
rs761257703
|
0.00001
|
NM_000070.3(CAPN3):c.866G>A (p.Arg289Gln)
|
rs775084606
|
0.00001
|
NM_000070.3(CAPN3):c.917C>T (p.Pro306Leu)
|
rs1192202929
|
0.00001
|
NM_000070.3(CAPN3):c.943C>T (p.Arg315Trp)
|
rs748651267
|
0.00001
|
NM_000070.3(CAPN3):c.945+9A>G
|
rs1419203553
|
0.00001
|
NM_000070.3(CAPN3):c.946-29del
|
rs1595826640
|
0.00001
|
NM_000070.3(CAPN3):c.947C>T (p.Thr316Ile)
|
rs1489416145
|
0.00001
|
NM_000070.3(CAPN3):c.949A>G (p.Ile317Val)
|
rs759881880
|
0.00001
|
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)
|
rs121434547
|
0.00001
|
NM_000070.3(CAPN3):c.958G>T (p.Val320Phe)
|
rs1555421055
|
0.00001
|
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His)
|
rs149591108
|
0.00001
|
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp)
|
rs200580015
|
0.00001
|
NM_000070.3(CAPN3):c.9C>T (p.Thr3=)
|
rs796218837
|
0.00001
|
GRCh37/hg19 15q15.1(chr15:42681074-42684971)x1
|
|
|
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_000015.10:g.(?_42409283)_(42410015_?)del
|
|
|
NC_000015.9:g.(?_42650583)_(42687745_?)del
|
|
|
NC_000015.9:g.(?_42651697)_(42704516_?)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.(?_42686437)_(42688200_?)del
|
|
|
NC_000015.9:g.(?_42686444)_(42697047_?)del
|
|
|
NC_000015.9:g.(?_42691680)_(42703981_?)del
|
|
|
NC_000015.9:g.(?_42693819)_(42695220_?)del
|
|
|
NC_000015.9:g.(?_42694952)_(42698151_?)del
|
|
|
NC_000015.9:g.(?_42695919)_(42695985_?)dup
|
|
|
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.*139C>T
|
rs1338589746
|
|
NM_000070.3(CAPN3):c.*170G>C
|
rs886051149
|
|
NM_000070.3(CAPN3):c.*387C>T
|
rs2054279990
|
|
NM_000070.3(CAPN3):c.*436del
|
rs774244796
|
|
NM_000070.3(CAPN3):c.*482_*485dup
|
rs780202767
|
|
NM_000070.3(CAPN3):c.-96A>T
|
rs2052587591
|
|
NM_000070.3(CAPN3):c.1002C>T (p.His334=)
|
rs374833797
|
|
NM_000070.3(CAPN3):c.1002del (p.His334fs)
|
|
|
NM_000070.3(CAPN3):c.1003G>A (p.Ala335Thr)
|
rs779526097
|
|
NM_000070.3(CAPN3):c.1005C>G (p.Ala335=)
|
rs369062480
|
|
NM_000070.3(CAPN3):c.1005C>T (p.Ala335=)
|
rs369062480
|
|
NM_000070.3(CAPN3):c.1008C>G (p.Tyr336Ter)
|
|
|
NM_000070.3(CAPN3):c.100G>A (p.Ala34Thr)
|
rs772534302
|
|
NM_000070.3(CAPN3):c.100del (p.Ala34fs)
|
rs2052593499
|
|
NM_000070.3(CAPN3):c.1012G>C (p.Val338Leu)
|
rs771608215
|
|
NM_000070.3(CAPN3):c.1012_1013del (p.Val338fs)
|
rs2141176996
|
|
NM_000070.3(CAPN3):c.1014C>A (p.Val338=)
|
|
|
NM_000070.3(CAPN3):c.1014C>G (p.Val338=)
|
|
|
NM_000070.3(CAPN3):c.1014C>T (p.Val338=)
|
|
|
NM_000070.3(CAPN3):c.1018G>C (p.Gly340Arg)
|
|
|
NM_000070.3(CAPN3):c.101C>G (p.Ala34Gly)
|
rs2052593680
|
|
NM_000070.3(CAPN3):c.1029+10G>A
|
|
|
NM_000070.3(CAPN3):c.1029+10G>C
|
rs1392805773
|
|
NM_000070.3(CAPN3):c.1029+13G>C
|
|
|
NM_000070.3(CAPN3):c.1029+17T>C
|
rs2141177118
|
|
NM_000070.3(CAPN3):c.1029+17_1029+26del
|
|
|
NM_000070.3(CAPN3):c.1029+17_1029+26dup
|
rs754919270
|
|
NM_000070.3(CAPN3):c.1029+1G>A
|
rs2141177054
|
|
NM_000070.3(CAPN3):c.1029+4A>G
|
|
|
NM_000070.3(CAPN3):c.1029+6C>T
|
|
|
NM_000070.3(CAPN3):c.1030-14T>A
|
|
|
NM_000070.3(CAPN3):c.1030-14T>C
|
|
|
NM_000070.3(CAPN3):c.1030-19C>T
|
|
|
NM_000070.3(CAPN3):c.1030-1G>A
|
rs1555421263
|
|
NM_000070.3(CAPN3):c.1030-1G>T
|
|
|
NM_000070.3(CAPN3):c.1030-4T>C
|
rs2141180641
|
|
NM_000070.3(CAPN3):c.1030-5T>C
|
rs2141180632
|
|
NM_000070.3(CAPN3):c.1030-6dup
|
rs1595828535
|
|
NM_000070.3(CAPN3):c.1035G>T (p.Pro345=)
|
rs1203522520
|
|
NM_000070.3(CAPN3):c.1040A>G (p.Lys347Arg)
|
rs2141180698
|
|
NM_000070.3(CAPN3):c.1042G>A (p.Gly348Ser)
|
|
|
NM_000070.3(CAPN3):c.1043del (p.Gly348fs)
|
rs781013226
|
|
NM_000070.3(CAPN3):c.1044T>A (p.Gly348=)
|
|
|
NM_000070.3(CAPN3):c.104G>C (p.Gly35Ala)
|
rs2141102293
|
|
NM_000070.3(CAPN3):c.1050A>G (p.Lys350=)
|
|
|
NM_000070.3(CAPN3):c.1050del (p.Lys350_Val351insTer)
|
|
|
NM_000070.3(CAPN3):c.1055del (p.Lys352fs)
|
|
|
NM_000070.3(CAPN3):c.1058T>C (p.Leu353Pro)
|
|
|
NM_000070.3(CAPN3):c.105G>A (p.Gly35=)
|
rs2052593875
|
|
NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly)
|
rs1555421271
|
|
NM_000070.3(CAPN3):c.1065G>A (p.Arg355=)
|
|
|
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.107G>C (p.Gly36Ala)
|
|
|
NM_000070.3(CAPN3):c.107del (p.Gly36fs)
|
|
|
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)
|
rs267606703
|
|
NM_000070.3(CAPN3):c.1082G>A (p.Gly361Asp)
|
rs886043290
|
|
NM_000070.3(CAPN3):c.108T>A (p.Gly36=)
|
|
|
NM_000070.3(CAPN3):c.1098C>A (p.Asn366Lys)
|
|
|
NM_000070.3(CAPN3):c.1104T>G (p.Ser368=)
|
|
|
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)
|
rs1595828703
|
|
NM_000070.3(CAPN3):c.1113T>C (p.Asp371=)
|
|
|
NM_000070.3(CAPN3):c.1115+14C>A
|
|
|
NM_000070.3(CAPN3):c.1115+16C>T
|
|
|
NM_000070.3(CAPN3):c.1115+18A>C
|
|
|
NM_000070.3(CAPN3):c.1115+19C>T
|
|
|
NM_000070.3(CAPN3):c.1115+1G>A
|
rs1555421293
|
|
NM_000070.3(CAPN3):c.1115+20G>A
|
|
|
NM_000070.3(CAPN3):c.1115+2T>A
|
rs1057524468
|
|
NM_000070.3(CAPN3):c.1115+2T>C
|
rs1057524468
|
|
NM_000070.3(CAPN3):c.1115+5G>C
|
rs886039597
|
|
NM_000070.3(CAPN3):c.1115+9G>C
|
|
|
NM_000070.3(CAPN3):c.1116-14C>T
|
|
|
NM_000070.3(CAPN3):c.1116-15C>T
|
|
|
NM_000070.3(CAPN3):c.1116-17C>T
|
|
|
NM_000070.3(CAPN3):c.1116-5A>T
|
rs28364467
|
|
NM_000070.3(CAPN3):c.1116-6C>T
|
rs2141186283
|
|
NM_000070.3(CAPN3):c.1116-8C>T
|
rs2141186273
|
|
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.1119G>A (p.Trp373Ter)
|
|
|
NM_000070.3(CAPN3):c.1120_1171del (p.Lys374fs)
|
|
|
NM_000070.3(CAPN3):c.1122G>A (p.Lys374=)
|
|
|
NM_000070.3(CAPN3):c.1123G>A (p.Asp375Asn)
|
|
|
NM_000070.3(CAPN3):c.1123G>C (p.Asp375His)
|
rs2053707997
|
|
NM_000070.3(CAPN3):c.1125C>T (p.Asp375=)
|
rs1250060692
|
|
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter)
|
rs1555421524
|
|
NM_000070.3(CAPN3):c.1128G>A (p.Trp376Ter)
|
|
|
NM_000070.3(CAPN3):c.1130G>A (p.Ser377Asn)
|
rs760121531
|
|
NM_000070.3(CAPN3):c.1131C>T (p.Ser377=)
|
rs2141186364
|
|
NM_000070.3(CAPN3):c.1132T>C (p.Phe378Leu)
|
rs1595831381
|
|
NM_000070.3(CAPN3):c.1137G>A (p.Val379=)
|
rs2141186373
|
|
NM_000070.3(CAPN3):c.1137G>C (p.Val379=)
|
|
|
NM_000070.3(CAPN3):c.1143del (p.Asp382fs)
|
|
|
NM_000070.3(CAPN3):c.114C>T (p.Asn38=)
|
rs770012991
|
|
NM_000070.3(CAPN3):c.1154C>T (p.Ala385Val)
|
rs934135114
|
|
NM_000070.3(CAPN3):c.1155C>T (p.Ala385=)
|
rs2053708728
|
|
NM_000070.3(CAPN3):c.1159C>T (p.Leu387=)
|
rs1225970825
|
|
NM_000070.3(CAPN3):c.1162C>T (p.Gln388Ter)
|
|
|
NM_000070.3(CAPN3):c.1163A>G (p.Gln388Arg)
|
rs2141186439
|
|
NM_000070.3(CAPN3):c.1173C>T (p.Val391=)
|
|
|
NM_000070.3(CAPN3):c.1176T>C (p.Thr392=)
|
|
|
NM_000070.3(CAPN3):c.1182T>C (p.Asp394=)
|
|
|
NM_000070.3(CAPN3):c.1183G>A (p.Gly395Arg)
|
rs1595831427
|
|
NM_000070.3(CAPN3):c.1185A>G (p.Gly395=)
|
|
|
NM_000070.3(CAPN3):c.1192T>C (p.Trp398Arg)
|
rs2053709952
|
|
NM_000070.3(CAPN3):c.1193+1G>A
|
|
|
NM_000070.3(CAPN3):c.1193+1G>T
|
|
|
NM_000070.3(CAPN3):c.1193+1del
|
|
|
NM_000070.3(CAPN3):c.1193+6T>A
|
rs1555421532
|
|
NM_000070.3(CAPN3):c.1193+8C>G
|
rs2141186533
|
|
NM_000070.3(CAPN3):c.1194-20C>G
|
|
|
NM_000070.3(CAPN3):c.1194-2A>G
|
rs2053804014
|
|
NM_000070.3(CAPN3):c.1194-2del
|
rs2141193533
|
|
NM_000070.3(CAPN3):c.1194-5C>T
|
rs2141193516
|
|
NM_000070.3(CAPN3):c.1194-7C>T
|
rs756139485
|
|
NM_000070.3(CAPN3):c.1194-8C>T
|
rs576894203
|
|
NM_000070.3(CAPN3):c.1194-9A>C
|
|
|
NM_000070.3(CAPN3):c.1194-9A>T
|
|
|
NM_000070.3(CAPN3):c.1195A>G (p.Met399Val)
|
|
|
NM_000070.3(CAPN3):c.1197del (p.Met399fs)
|
|
|
NM_000070.3(CAPN3):c.1198del (p.Ser400fs)
|
rs1555421842
|
|
NM_000070.3(CAPN3):c.1201T>C (p.Tyr401His)
|
|
|
NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe)
|
rs371784007
|
|
NM_000070.3(CAPN3):c.1207_1216del (p.Asp403fs)
|
|
|
NM_000070.3(CAPN3):c.120T>C (p.Ser40=)
|
rs2141102340
|
|
NM_000070.3(CAPN3):c.1211T>C (p.Phe404Ser)
|
rs2141193571
|
|
NM_000070.3(CAPN3):c.1220A>G (p.His407Arg)
|
|
|
NM_000070.3(CAPN3):c.1227A>C (p.Thr409=)
|
rs111806046
|
|
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=)
|
rs111806046
|
|
NM_000070.3(CAPN3):c.1227A>T (p.Thr409=)
|
rs111806046
|
|
NM_000070.3(CAPN3):c.122G>T (p.Gly41Val)
|
|
|
NM_000070.3(CAPN3):c.1231T>C (p.Leu411=)
|
rs781232391
|
|
NM_000070.3(CAPN3):c.1233G>A (p.Leu411=)
|
rs2141193634
|
|
NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter)
|
rs1555421847
|
|
NM_000070.3(CAPN3):c.1236_1288dup (p.Thr430fs)
|
|
|
NM_000070.3(CAPN3):c.1238T>C (p.Ile413Thr)
|
|
|
NM_000070.3(CAPN3):c.1239C>T (p.Ile413=)
|
|
|
NM_000070.3(CAPN3):c.1240T>G (p.Cys414Gly)
|
|
|
NM_000070.3(CAPN3):c.1247del (p.Leu416fs)
|
|
|
NM_000070.3(CAPN3):c.1248C>T (p.Leu416=)
|
rs1408467756
|
|
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=)
|
rs151090625
|
|
NM_000070.3(CAPN3):c.1251G>C (p.Thr417=)
|
rs151090625
|
|
NM_000070.3(CAPN3):c.1251G>T (p.Thr417=)
|
rs151090625
|
|
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)
|
rs886042895
|
|
NM_000070.3(CAPN3):c.1259C>T (p.Ala420Val)
|
|
|
NM_000070.3(CAPN3):c.1265A>G (p.Gln422Arg)
|
rs2141193741
|
|
NM_000070.3(CAPN3):c.1266G>A (p.Gln422=)
|
|
|
NM_000070.3(CAPN3):c.126C>T (p.Ile42=)
|
|
|
NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs)
|
rs1555421854
|
|
NM_000070.3(CAPN3):c.1277T>C (p.Leu426Pro)
|
rs2141193792
|
|
NM_000070.3(CAPN3):c.1289C>A (p.Thr430Lys)
|
rs199725329
|
|
NM_000070.3(CAPN3):c.1291G>C (p.Val431Leu)
|
|
|
NM_000070.3(CAPN3):c.1293G>A (p.Val431=)
|
rs1009544440
|
|
NM_000070.3(CAPN3):c.1296T>C (p.Ser432=)
|
rs2141193841
|
|
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)
|
rs1293496023
|
|
NM_000070.3(CAPN3):c.1301_1304del (p.Asn434fs)
|
rs1566979465
|
|
NM_000070.3(CAPN3):c.1301dup (p.Asn434fs)
|
|
|
NM_000070.3(CAPN3):c.1305G>C (p.Glu435Asp)
|
|
|
NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)
|
|
|
NM_000070.3(CAPN3):c.1310G>T (p.Arg437Leu)
|
|
|
NM_000070.3(CAPN3):c.1314G>C (p.Trp438Cys)
|
rs2053807675
|
|
NM_000070.3(CAPN3):c.1322G>A (p.Gly441Asp)
|
|
|
NM_000070.3(CAPN3):c.1322del (p.Gly441fs)
|
rs1555421871
|
|
NM_000070.3(CAPN3):c.1323T>C (p.Gly441=)
|
|
|
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.1334G>A (p.Gly445Glu)
|
rs1555421875
|
|
NM_000070.3(CAPN3):c.1336G>A (p.Gly446Ser)
|
rs886042857
|
|
NM_000070.3(CAPN3):c.1341C>T (p.Cys447=)
|
|
|
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)
|
rs776043976
|
|
NM_000070.3(CAPN3):c.1343G>T (p.Arg448Leu)
|
rs863224956
|
|
NM_000070.3(CAPN3):c.1344C>T (p.Arg448=)
|
|
|
NM_000070.3(CAPN3):c.1345A>G (p.Asn449Asp)
|
rs886043144
|
|
NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)
|
|
|
NM_000070.3(CAPN3):c.1352C>T (p.Pro451Leu)
|
|
|
NM_000070.3(CAPN3):c.1354+129T>A
|
|
|
NM_000070.3(CAPN3):c.1354+13C>T
|
|
|
NM_000070.3(CAPN3):c.1354+15del
|
|
|
NM_000070.3(CAPN3):c.1354+18T>C
|
|
|
NM_000070.3(CAPN3):c.1354+19G>A
|
|
|
NM_000070.3(CAPN3):c.1354+19G>C
|
|
|
NM_000070.3(CAPN3):c.1354+1G>A
|
|
|
NM_000070.3(CAPN3):c.1354+20G>A
|
|
|
NM_000070.3(CAPN3):c.1354+20G>T
|
|
|
NM_000070.3(CAPN3):c.1354+24dup
|
|
|
NM_000070.3(CAPN3):c.1354+6A>C
|
|
|
NM_000070.3(CAPN3):c.1354+8A>G
|
rs2053810204
|
|
NM_000070.3(CAPN3):c.1354G>C (p.Asp452His)
|
rs727503838
|
|
NM_000070.3(CAPN3):c.1354G>T (p.Asp452Tyr)
|
rs727503838
|
|
NM_000070.3(CAPN3):c.1355-10G>A
|
rs1388234925
|
|
NM_000070.3(CAPN3):c.136A>G (p.Ile46Val)
|
|
|
NM_000070.3(CAPN3):c.136_145del (p.Ile46fs)
|
|
|
NM_000070.3(CAPN3):c.137TCA[1] (p.Ile47del)
|
|
|
NM_000070.3(CAPN3):c.13A>G (p.Ile5Val)
|
rs1265909242
|
|
NM_000070.3(CAPN3):c.1401G>A (p.Glu467=)
|
rs1035533876
|
|
NM_000070.3(CAPN3):c.1403A>G (p.Asp468Gly)
|
rs2141199495
|
|
NM_000070.3(CAPN3):c.1404C>G (p.Asp468Glu)
|
rs534326487
|
|
NM_000070.3(CAPN3):c.1419C>G (p.Asp473Glu)
|
|
|
NM_000070.3(CAPN3):c.1419C>T (p.Asp473=)
|
|
|
NM_000070.3(CAPN3):c.141C>T (p.Ile47=)
|
rs1566965944
|
|
NM_000070.3(CAPN3):c.1420_1433delinsC (p.Ser474fs)
|
|
|
NM_000070.3(CAPN3):c.1425G>A (p.Glu475=)
|
|
|
NM_000070.3(CAPN3):c.1431T>C (p.Ile477=)
|
|
|
NM_000070.3(CAPN3):c.1439T>A (p.Phe480Tyr)
|
rs1555422111
|
|
NM_000070.3(CAPN3):c.1440C>T (p.Phe480=)
|
|
|
NM_000070.3(CAPN3):c.1442T>C (p.Leu481Pro)
|
rs886043175
|
|
NM_000070.3(CAPN3):c.1450C>T (p.Leu484=)
|
|
|
NM_000070.3(CAPN3):c.1452G>A (p.Leu484=)
|
rs2053876506
|
|
NM_000070.3(CAPN3):c.1455del (p.Met485fs)
|
rs2053876698
|
|
NM_000070.3(CAPN3):c.1456C>T (p.Gln486Ter)
|
rs2141199686
|
|
NM_000070.3(CAPN3):c.1469delinsTC (p.Arg490fs)
|
rs2141199752
|
|
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
|
rs863224958
|
|
NM_000070.3(CAPN3):c.1470del (p.Lys491fs)
|
|
|
NM_000070.3(CAPN3):c.1476C>T (p.Asp492=)
|
rs2141199788
|
|
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly)
|
rs557164942
|
|
NM_000070.3(CAPN3):c.1482G>A (p.Lys494=)
|
rs1178672791
|
|
NM_000070.3(CAPN3):c.1484T>C (p.Leu495Pro)
|
rs886043921
|
|
NM_000070.3(CAPN3):c.1485A>G (p.Leu495=)
|
|
|
NM_000070.3(CAPN3):c.1485del (p.Ala497fs)
|
rs1595837172
|
|
NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg)
|
rs761637940
|
|
NM_000070.3(CAPN3):c.1489G>C (p.Ala497Pro)
|
|
|
NM_000070.3(CAPN3):c.1497C>T (p.Leu499=)
|
|
|
NM_000070.3(CAPN3):c.14T>C (p.Ile5Thr)
|
|
|
NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile)
|
rs751104396
|
|
NM_000070.3(CAPN3):c.1507_1511del (p.Gly503fs)
|
|
|
NM_000070.3(CAPN3):c.1508G>C (p.Gly503Ala)
|
|
|
NM_000070.3(CAPN3):c.1512C>T (p.Phe504=)
|
rs1002414882
|
|
NM_000070.3(CAPN3):c.1513G>A (p.Ala505Thr)
|
rs1555422133
|
|
NM_000070.3(CAPN3):c.1513_1519dup (p.Tyr507fs)
|
|
|
NM_000070.3(CAPN3):c.1515_1518dup (p.Tyr507fs)
|
rs2141199970
|
|
NM_000070.3(CAPN3):c.1516A>C (p.Ile506Leu)
|
rs140828326
|
|
NM_000070.3(CAPN3):c.1516A>G (p.Ile506Val)
|
rs140828326
|
|
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr)
|
rs1555422136
|
|
NM_000070.3(CAPN3):c.1518C>A (p.Ile506=)
|
|
|
NM_000070.3(CAPN3):c.1518C>T (p.Ile506=)
|
|
|
NM_000070.3(CAPN3):c.151T>C (p.Phe51Leu)
|
|
|
NM_000070.3(CAPN3):c.1522G>A (p.Glu508Lys)
|
|
|
NM_000070.3(CAPN3):c.1524+11C>G
|
|
|
NM_000070.3(CAPN3):c.1524+11C>T
|
|
|
NM_000070.3(CAPN3):c.1524+15T>C
|
|
|
NM_000070.3(CAPN3):c.1524+17G>C
|
|
|
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.1524+3del
|
rs1566980514
|
|
NM_000070.3(CAPN3):c.1524+7A>C
|
|
|
NM_000070.3(CAPN3):c.1524+9T>C
|
|
|
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)
|
rs886043432
|
|
NM_000070.3(CAPN3):c.1525-15C>T
|
|
|
NM_000070.3(CAPN3):c.1525-1G>T
|
rs2053889963
|
|
NM_000070.3(CAPN3):c.1525-2A>G
|
|
|
NM_000070.3(CAPN3):c.1525-9C>T
|
rs1240331852
|
|
NM_000070.3(CAPN3):c.1525G>T (p.Val509Phe)
|
rs1409503203
|
|
NM_000070.3(CAPN3):c.1536+10C>T
|
|
|
NM_000070.3(CAPN3):c.1536+17G>A
|
|
|
NM_000070.3(CAPN3):c.1536+17G>T
|
|
|
NM_000070.3(CAPN3):c.1536+1G>T
|
|
|
NM_000070.3(CAPN3):c.1536+3A>G
|
|
|
NM_000070.3(CAPN3):c.1536G>A (p.Glu512=)
|
|
|
NM_000070.3(CAPN3):c.1536G>C (p.Glu512Asp)
|
|
|
NM_000070.3(CAPN3):c.1537-10C>A
|
rs1595838469
|
|
NM_000070.3(CAPN3):c.1537-11C>G
|
|
|
NM_000070.3(CAPN3):c.1537-12C>G
|
|
|
NM_000070.3(CAPN3):c.1537-14T>G
|
|
|
NM_000070.3(CAPN3):c.1537-17C>A
|
|
|
NM_000070.3(CAPN3):c.1537-18G>C
|
|
|
NM_000070.3(CAPN3):c.1537-40C>G
|
rs1172112518
|
|
NM_000070.3(CAPN3):c.1537-5C>G
|
|
|
NM_000070.3(CAPN3):c.1537-8TC[2]
|
rs764635656
|
|
NM_000070.3(CAPN3):c.1537-9A>G
|
rs2053909488
|
|
NM_000070.3(CAPN3):c.1542C>A (p.His514Gln)
|
rs377215244
|
|
NM_000070.3(CAPN3):c.1545G>A (p.Gly515=)
|
|
|
NM_000070.3(CAPN3):c.1552C>T (p.Gln518Ter)
|
|
|
NM_000070.3(CAPN3):c.1558_1559del (p.Leu520fs)
|
|
|
NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter)
|
rs2053910936
|
|
NM_000070.3(CAPN3):c.1562A>C (p.Gln521Pro)
|
|
|
NM_000070.3(CAPN3):c.1569C>T (p.Asp523=)
|
rs2141202805
|
|
NM_000070.3(CAPN3):c.1576C>T (p.Leu526=)
|
rs2141202826
|
|
NM_000070.3(CAPN3):c.1576del (p.Leu526fs)
|
rs1595838545
|
|
NM_000070.3(CAPN3):c.1577T>C (p.Leu526Pro)
|
|
|
NM_000070.3(CAPN3):c.1582A>G (p.Asn528Asp)
|
|
|
NM_000070.3(CAPN3):c.1584C>A (p.Asn528Lys)
|
rs530529988
|
|
NM_000070.3(CAPN3):c.1587C>T (p.Ala529=)
|
rs2141202906
|
|
NM_000070.3(CAPN3):c.1590dup (p.Lys531fs)
|
rs2141202919
|
|
NM_000070.3(CAPN3):c.1602C>T (p.Ser534=)
|
rs2141202971
|
|
NM_000070.3(CAPN3):c.1608C>T (p.Thr536=)
|
rs1483406857
|
|
NM_000070.3(CAPN3):c.160A>G (p.Ile54Val)
|
rs2052596155
|
|
NM_000070.3(CAPN3):c.1611C>T (p.Tyr537=)
|
|
|
NM_000070.3(CAPN3):c.1614C>T (p.Ile538=)
|
rs2141202992
|
|
NM_000070.3(CAPN3):c.1615_1616insTGCGGTTTGCTCCTGGCCTTGCAAAGGCCT (p.Asn539delinsMetArgPheAlaProGlyLeuAlaLysAlaTyr)
|
rs2053912617
|
|
NM_000070.3(CAPN3):c.1619T>C (p.Met540Thr)
|
|
|
NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly)
|
rs142004418
|
|
NM_000070.3(CAPN3):c.1628T>G (p.Val543Gly)
|
|
|
NM_000070.3(CAPN3):c.1629G>C (p.Val543=)
|
|
|
NM_000070.3(CAPN3):c.1631C>T (p.Ser544Phe)
|
|
|
NM_000070.3(CAPN3):c.1633C>T (p.Gln545Ter)
|
|
|
NM_000070.3(CAPN3):c.1638C>G (p.Arg546=)
|
|
|
NM_000070.3(CAPN3):c.1642C>T (p.Arg548Cys)
|
|
|
NM_000070.3(CAPN3):c.1642del (p.Arg548fs)
|
rs1555422293
|
|
NM_000070.3(CAPN3):c.1645_1649del (p.Leu549fs)
|
|
|
NM_000070.3(CAPN3):c.1656C>A (p.Ser552Arg)
|
|
|
NM_000070.3(CAPN3):c.1656C>T (p.Ser552=)
|
rs751666282
|
|
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)
|
rs767739787
|
|
NM_000070.3(CAPN3):c.1658A>G (p.Glu553Gly)
|
|
|
NM_000070.3(CAPN3):c.1659G>C (p.Glu553Asp)
|
|
|
NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter)
|
rs752848213
|
|
NM_000070.3(CAPN3):c.1663G>C (p.Val555Leu)
|
rs138172448
|
|
NM_000070.3(CAPN3):c.1669G>A (p.Val557Met)
|
|
|
NM_000070.3(CAPN3):c.1672C>T (p.Pro558Ser)
|
|
|
NM_000070.3(CAPN3):c.1674C>G (p.Pro558=)
|
rs1205096877
|
|
NM_000070.3(CAPN3):c.1674C>T (p.Pro558=)
|
rs1205096877
|
|
NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His)
|
|
|
NM_000070.3(CAPN3):c.1684G>A (p.Glu562Lys)
|
|
|
NM_000070.3(CAPN3):c.1690_1693dup (p.Gln565fs)
|
rs1555422298
|
|
NM_000070.3(CAPN3):c.1692C>G (p.His564Gln)
|
|
|
NM_000070.3(CAPN3):c.1693C>T (p.Gln565Ter)
|
|
|
NM_000070.3(CAPN3):c.1695G>A (p.Gln565=)
|
|
|
NM_000070.3(CAPN3):c.1698G>A (p.Glu566=)
|
|
|
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)
|
rs727503839
|
|
NM_000070.3(CAPN3):c.169A>G (p.Lys57Glu)
|
|
|
NM_000070.3(CAPN3):c.1701G>A (p.Gly567=)
|
rs1595838740
|
|
NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser)
|
rs886044483
|
|
NM_000070.3(CAPN3):c.1707C>T (p.Phe569=)
|
|
|
NM_000070.3(CAPN3):c.1711del (p.Leu571fs)
|
rs1334369407
|
|
NM_000070.3(CAPN3):c.1712del (p.Leu571fs)
|
|
|
NM_000070.3(CAPN3):c.1713C>T (p.Leu571=)
|
rs2141203372
|
|
NM_000070.3(CAPN3):c.1714C>G (p.Arg572Gly)
|
rs863224959
|
|
NM_000070.3(CAPN3):c.1715G>C (p.Arg572Pro)
|
rs121434544
|
|
NM_000070.3(CAPN3):c.1716G>C (p.Arg572=)
|
|
|
NM_000070.3(CAPN3):c.1718T>A (p.Val573Asp)
|
|
|
NM_000070.3(CAPN3):c.1722del (p.Ser575fs)
|
rs1366387924
|
|
NM_000070.3(CAPN3):c.1733G>A (p.Arg578Lys)
|
|
|
NM_000070.3(CAPN3):c.1737C>T (p.Asn579=)
|
|
|
NM_000070.3(CAPN3):c.1740C>G (p.Leu580=)
|
rs1296069874
|
|
NM_000070.3(CAPN3):c.1740_1743del (p.Ser581fs)
|
rs2141203435
|
|
NM_000070.3(CAPN3):c.1742C>G (p.Ser581Cys)
|
|
|
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)
|
rs886042573
|
|
NM_000070.3(CAPN3):c.1743dup (p.Glu582Ter)
|
|
|
NM_000070.3(CAPN3):c.1745+10G>A
|
rs1302217409
|
|
NM_000070.3(CAPN3):c.1745+13C>T
|
|
|
NM_000070.3(CAPN3):c.1745+1G>A
|
|
|
NM_000070.3(CAPN3):c.1745+3G>C
|
|
|
NM_000070.3(CAPN3):c.1745+4_1745+7del
|
rs794727082
|
|
NM_000070.3(CAPN3):c.1745+9T>C
|
|
|
NM_000070.3(CAPN3):c.1746-17G>A
|
|
|
NM_000070.3(CAPN3):c.1746-18T>C
|
|
|
NM_000070.3(CAPN3):c.1746-19A>G
|
|
|
NM_000070.3(CAPN3):c.1746-19_1746-18del
|
|
|
NM_000070.3(CAPN3):c.1746-5C>T
|
rs2141205216
|
|
NM_000070.3(CAPN3):c.1746-6T>C
|
rs1043267573
|
|
NM_000070.3(CAPN3):c.1746-8C>G
|
|
|
NM_000070.3(CAPN3):c.174G>A (p.Glu58=)
|
|
|
NM_000070.3(CAPN3):c.1761C>T (p.Thr587=)
|
|
|
NM_000070.3(CAPN3):c.1764C>T (p.Ile588=)
|
|
|
NM_000070.3(CAPN3):c.1768G>T (p.Val590Leu)
|
rs370809015
|
|
NM_000070.3(CAPN3):c.1771del (p.Asp591fs)
|
rs754761503
|
|
NM_000070.3(CAPN3):c.1773T>C (p.Asp591=)
|
|
|
NM_000070.3(CAPN3):c.1775G>A (p.Arg592Gln)
|
|
|
NM_000070.3(CAPN3):c.1776G>A (p.Arg592=)
|
rs751592337
|
|
NM_000070.3(CAPN3):c.1778C>T (p.Pro593Leu)
|
|
|
NM_000070.3(CAPN3):c.1782+1072G>C
|
rs2053974373
|
|
NM_000070.3(CAPN3):c.1782+2T>C
|
rs754930571
|
|
NM_000070.3(CAPN3):c.1782+5G>A
|
rs886043173
|
|
NM_000070.3(CAPN3):c.1782G>A (p.Val594=)
|
|
|
NM_000070.3(CAPN3):c.1783-11T>G
|
rs2141210321
|
|
NM_000070.3(CAPN3):c.1783-12T>C
|
|
|
NM_000070.3(CAPN3):c.1783-14C>T
|
|
|
NM_000070.3(CAPN3):c.1783-15C>A
|
|
|
NM_000070.3(CAPN3):c.1783-15C>G
|
|
|
NM_000070.3(CAPN3):c.1783-19G>A
|
|
|
NM_000070.3(CAPN3):c.1783-4G>A
|
|
|
NM_000070.3(CAPN3):c.1783-5_1784del
|
|
|
NM_000070.3(CAPN3):c.1783-7T>C
|
|
|
NM_000070.3(CAPN3):c.1783-9C>A
|
rs1555422573
|
|
NM_000070.3(CAPN3):c.1788G>T (p.Lys596Asn)
|
|
|
NM_000070.3(CAPN3):c.1788_1791del (p.Lys598fs)
|
rs2141210355
|
|
NM_000070.3(CAPN3):c.1792_1795del (p.Lys598fs)
|
|
|
NM_000070.3(CAPN3):c.1793_1795del (p.Lys598del)
|
rs80338803
|
|
NM_000070.3(CAPN3):c.1795del (p.Thr599fs)
|
|
|
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)
|
rs80338803
|
|
NM_000070.3(CAPN3):c.1797C>G (p.Thr599=)
|
rs1321136751
|
|
NM_000070.3(CAPN3):c.1797C>T (p.Thr599=)
|
|
|
NM_000070.3(CAPN3):c.1800+16G>A
|
|
|
NM_000070.3(CAPN3):c.1800+19A>G
|
|
|
NM_000070.3(CAPN3):c.1800+1G>A
|
|
|
NM_000070.3(CAPN3):c.1800+4G>A
|
rs2054007004
|
|
NM_000070.3(CAPN3):c.1800+5GT[2]
|
|
|
NM_000070.3(CAPN3):c.1800+7G>A
|
rs770160730
|
|
NM_000070.3(CAPN3):c.1800+9G>A
|
rs917718272
|
|
NM_000070.3(CAPN3):c.1800G>A (p.Lys600=)
|
|
|
NM_000070.3(CAPN3):c.1801-10C>T
|
|
|
NM_000070.3(CAPN3):c.1801-15C>T
|
rs1266596067
|
|
NM_000070.3(CAPN3):c.1801-16T>A
|
|
|
NM_000070.3(CAPN3):c.1801-16_1801-12dup
|
|
|
NM_000070.3(CAPN3):c.1801-28_1801-10del
|
|
|
NM_000070.3(CAPN3):c.1801-5T>C
|
rs2054082419
|
|
NM_000070.3(CAPN3):c.1801-7T>C
|
rs2141216390
|
|
NM_000070.3(CAPN3):c.1801-8C>G
|
rs2141216384
|
|
NM_000070.3(CAPN3):c.1801-8C>T
|
|
|
NM_000070.3(CAPN3):c.1801-9_1801-3del
|
rs2141216361
|
|
NM_000070.3(CAPN3):c.1803C>T (p.Pro601=)
|
|
|
NM_000070.3(CAPN3):c.1807A>G (p.Ile603Val)
|
|
|
NM_000070.3(CAPN3):c.1807_1808dup (p.Phe604fs)
|
|
|
NM_000070.3(CAPN3):c.1810_1812del (p.Phe604del)
|
rs2054083117
|
|
NM_000070.3(CAPN3):c.1813G>C (p.Val605Leu)
|
rs200759807
|
|
NM_000070.3(CAPN3):c.1823G>A (p.Arg608Lys)
|
|
|
NM_000070.3(CAPN3):c.1832_1834del (p.Ser611del)
|
|
|
NM_000070.3(CAPN3):c.1833CAA[1] (p.Asn612del)
|
rs1555422829
|
|
NM_000070.3(CAPN3):c.1834A>C (p.Asn612His)
|
|
|
NM_000070.3(CAPN3):c.1838del (p.Lys613fs)
|
rs1555422832
|
|
NM_000070.3(CAPN3):c.1839G>A (p.Lys613=)
|
rs2141216539
|
|
NM_000070.3(CAPN3):c.1844T>C (p.Leu615Pro)
|
|
|
NM_000070.3(CAPN3):c.1851G>T (p.Val617=)
|
|
|
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter)
|
rs1566983844
|
|
NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter)
|
rs1555422839
|
|
NM_000070.3(CAPN3):c.1858del (p.Glu620fs)
|
|
|
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs)
|
rs2054085839
|
|
NM_000070.3(CAPN3):c.1882del (p.Thr628fs)
|
rs1555422847
|
|
NM_000070.3(CAPN3):c.1884A>C (p.Thr628=)
|
rs1595844400
|
|
NM_000070.3(CAPN3):c.1895_1913dup (p.Pro639fs)
|
rs2141216768
|
|
NM_000070.3(CAPN3):c.1896G>A (p.Lys632=)
|
rs746786954
|
|
NM_000070.3(CAPN3):c.1896G>T (p.Lys632Asn)
|
|
|
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)
|
rs1595844413
|
|
NM_000070.3(CAPN3):c.189A>G (p.Gln63=)
|
rs2141102580
|
|
NM_000070.3(CAPN3):c.1902G>A (p.Lys634=)
|
rs2054086848
|
|
NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)
|
|
|
NM_000070.3(CAPN3):c.1904A>G (p.Gln635Arg)
|
|
|
NM_000070.3(CAPN3):c.1908C>A (p.Ser636=)
|
|
|
NM_000070.3(CAPN3):c.1910del (p.Pro637fs)
|
|
|
NM_000070.3(CAPN3):c.1910dup (p.Gln638fs)
|
|
|
NM_000070.3(CAPN3):c.1914+11A>C
|
|
|
NM_000070.3(CAPN3):c.1914+11A>T
|
|
|
NM_000070.3(CAPN3):c.1914+13G>C
|
rs769337232
|
|
NM_000070.3(CAPN3):c.1914+16G>A
|
|
|
NM_000070.3(CAPN3):c.1914+18A>G
|
|
|
NM_000070.3(CAPN3):c.1914+2T>C
|
rs1555422856
|
|
NM_000070.3(CAPN3):c.1914+7G>A
|
rs2054087736
|
|
NM_000070.3(CAPN3):c.1914+9G>C
|
|
|
NM_000070.3(CAPN3):c.1914G>A (p.Gln638=)
|
|
|
NM_000070.3(CAPN3):c.1915-12G>A
|
|
|
NM_000070.3(CAPN3):c.1915-2A>C
|
|
|
NM_000070.3(CAPN3):c.1915-3C>T
|
|
|
NM_000070.3(CAPN3):c.1915-6C>T
|
rs2141219673
|
|
NM_000070.3(CAPN3):c.1922C>T (p.Pro641Leu)
|
rs2054128388
|
|
NM_000070.3(CAPN3):c.1929C>T (p.Ser643=)
|
rs11557722
|
|
NM_000070.3(CAPN3):c.1933G>A (p.Asp645Asn)
|
|
|
NM_000070.3(CAPN3):c.1933del (p.Asp645fs)
|
rs1595845459
|
|
NM_000070.3(CAPN3):c.1936C>T (p.Gln646Ter)
|
|
|
NM_000070.3(CAPN3):c.193C>G (p.His65Asp)
|
rs898013388
|
|
NM_000070.3(CAPN3):c.193del (p.His65fs)
|
rs2141102601
|
|
NM_000070.3(CAPN3):c.1944_1945del (p.Ser648fs)
|
rs1555422954
|
|
NM_000070.3(CAPN3):c.1945G>A (p.Glu649Lys)
|
|
|
NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter)
|
rs777636094
|
|
NM_000070.3(CAPN3):c.1951C>T (p.Gln651Ter)
|
|
|
NM_000070.3(CAPN3):c.1953G>A (p.Gln651=)
|
|
|
NM_000070.3(CAPN3):c.1954C>T (p.Gln652Ter)
|
|
|
NM_000070.3(CAPN3):c.1963C>T (p.Arg655Trp)
|
|
|
NM_000070.3(CAPN3):c.1963del (p.Arg655fs)
|
rs1566984441
|
|
NM_000070.3(CAPN3):c.1968C>T (p.Asn656=)
|
|
|
NM_000070.3(CAPN3):c.196A>C (p.Lys66Gln)
|
rs2052597232
|
|
NM_000070.3(CAPN3):c.1974C>T (p.Phe658=)
|
|
|
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.1979A>G (p.Gln660Arg)
|
rs1555422962
|
|
NM_000070.3(CAPN3):c.1982T>A (p.Ile661Lys)
|
rs2141219945
|
|
NM_000070.3(CAPN3):c.1982T>C (p.Ile661Thr)
|
|
|
NM_000070.3(CAPN3):c.1983dup (p.Ala662fs)
|
|
|
NM_000070.3(CAPN3):c.1984G>C (p.Ala662Pro)
|
rs187054121
|
|
NM_000070.3(CAPN3):c.1985del (p.Ala662fs)
|
rs2141219970
|
|
NM_000070.3(CAPN3):c.1986del (p.Gly663fs)
|
|
|
NM_000070.3(CAPN3):c.1988_1990del (p.Gly663del)
|
rs770529441
|
|
NM_000070.3(CAPN3):c.1992+11C>G
|
|
|
NM_000070.3(CAPN3):c.1992+11C>T
|
|
|
NM_000070.3(CAPN3):c.1992+16C>T
|
|
|
NM_000070.3(CAPN3):c.1992+18C>G
|
|
|
NM_000070.3(CAPN3):c.1992+18C>T
|
|
|
NM_000070.3(CAPN3):c.1992+19A>T
|
|
|
NM_000070.3(CAPN3):c.1992+1G>A
|
|
|
NM_000070.3(CAPN3):c.1992+1G>T
|
rs863224961
|
|
NM_000070.3(CAPN3):c.1992+2T>G
|
|
|
NM_000070.3(CAPN3):c.1992+8C>T
|
rs2141220032
|
|
NM_000070.3(CAPN3):c.1992+9C>T
|
rs2141220039
|
|
NM_000070.3(CAPN3):c.1993-10T>G
|
rs2141221233
|
|
NM_000070.3(CAPN3):c.1993-17T>C
|
|
|
NM_000070.3(CAPN3):c.1993-18C>T
|
|
|
NM_000070.3(CAPN3):c.1993-19C>T
|
|
|
NM_000070.3(CAPN3):c.1993-2A>G
|
|
|
NM_000070.3(CAPN3):c.1993-5C>T
|
rs1566984719
|
|
NM_000070.3(CAPN3):c.1993-5_1993-3del
|
|
|
NM_000070.3(CAPN3):c.1993-8C>G
|
|
|
NM_000070.3(CAPN3):c.1993-9C>T
|
rs2141221248
|
|
NM_000070.3(CAPN3):c.1993G>T (p.Asp665Tyr)
|
|
|
NM_000070.3(CAPN3):c.1995C>T (p.Asp665=)
|
|
|
NM_000070.3(CAPN3):c.1996A>C (p.Met666Leu)
|
|
|
NM_000070.3(CAPN3):c.1996_1997del (p.Met666fs)
|
|
|
NM_000070.3(CAPN3):c.1997T>A (p.Met666Lys)
|
|
|
NM_000070.3(CAPN3):c.1997T>C (p.Met666Thr)
|
|
|
NM_000070.3(CAPN3):c.1999G>T (p.Glu667Ter)
|
rs2141221307
|
|
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs)
|
rs886044004
|
|
NM_000070.3(CAPN3):c.19G>C (p.Ala7Pro)
|
rs776827432
|
|
NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter)
|
rs1555423015
|
|
NM_000070.3(CAPN3):c.2008G>A (p.Ala670Thr)
|
|
|
NM_000070.3(CAPN3):c.2013T>C (p.Asp671=)
|
rs2141221338
|
|
NM_000070.3(CAPN3):c.2019C>T (p.Leu673=)
|
rs879491385
|
|
NM_000070.3(CAPN3):c.2019dup (p.Lys674fs)
|
rs2141221357
|
|
NM_000070.3(CAPN3):c.202T>C (p.Cys68Arg)
|
rs2141102622
|
|
NM_000070.3(CAPN3):c.2031T>A (p.Leu677=)
|
rs931512687
|
|
NM_000070.3(CAPN3):c.2031T>C (p.Leu677=)
|
rs931512687
|
|
NM_000070.3(CAPN3):c.2032A>G (p.Asn678Asp)
|
rs2054149654
|
|
NM_000070.3(CAPN3):c.2033A>G (p.Asn678Ser)
|
|
|
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.2037A>T (p.Thr679=)
|
rs747774620
|
|
NM_000070.3(CAPN3):c.2040C>A (p.Val680=)
|
rs200583904
|
|
NM_000070.3(CAPN3):c.2042T>C (p.Val681Ala)
|
rs750373128
|
|
NM_000070.3(CAPN3):c.2042_2043del (p.Val681fs)
|
|
|
NM_000070.3(CAPN3):c.2046C>T (p.Asn682=)
|
|
|
NM_000070.3(CAPN3):c.2048_2051del (p.Lys683fs)
|
rs2054150380
|
|
NM_000070.3(CAPN3):c.2050+12A>C
|
|
|
NM_000070.3(CAPN3):c.2050+13A>T
|
|
|
NM_000070.3(CAPN3):c.2050+16C>A
|
|
|
NM_000070.3(CAPN3):c.2050+16del
|
|
|
NM_000070.3(CAPN3):c.2050+19A>G
|
|
|
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.2050+20T>C
|
|
|
NM_000070.3(CAPN3):c.2050+9C>T
|
rs2054150768
|
|
NM_000070.3(CAPN3):c.2051-12C>T
|
|
|
NM_000070.3(CAPN3):c.2051-13T>A
|
|
|
NM_000070.3(CAPN3):c.2051-17C>T
|
|
|
NM_000070.3(CAPN3):c.2051-19C>T
|
|
|
NM_000070.3(CAPN3):c.2051-1G>A
|
|
|
NM_000070.3(CAPN3):c.2051-1G>C
|
rs886042108
|
|
NM_000070.3(CAPN3):c.2051-1G>T
|
rs886042108
|
|
NM_000070.3(CAPN3):c.2051-20_2051-17del
|
|
|
NM_000070.3(CAPN3):c.2051-2A>G
|
|
|
NM_000070.3(CAPN3):c.2051-3C>A
|
rs201294691
|
|
NM_000070.3(CAPN3):c.2051-3C>T
|
|
|
NM_000070.3(CAPN3):c.2051-3del
|
rs781378527
|
|
NM_000070.3(CAPN3):c.2051-5C>T
|
|
|
NM_000070.3(CAPN3):c.2051-6C>T
|
|
|
NM_000070.3(CAPN3):c.2051-8C>A
|
|
|
NM_000070.3(CAPN3):c.2055G>A (p.Lys685=)
|
rs778082413
|
|
NM_000070.3(CAPN3):c.2068C>G (p.His690Asp)
|
rs2141222124
|
|
NM_000070.3(CAPN3):c.2069_2070del (p.His690fs)
|
rs1555423046
|
|
NM_000070.3(CAPN3):c.2071G>C (p.Gly691Arg)
|
rs140425651
|
|
NM_000070.3(CAPN3):c.2073G>A (p.Gly691=)
|
|
|
NM_000070.3(CAPN3):c.2080C>G (p.Leu694Val)
|
rs2054156832
|
|
NM_000070.3(CAPN3):c.2083G>T (p.Glu695Ter)
|
rs2054157050
|
|
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=)
|
rs867628179
|
|
NM_000070.3(CAPN3):c.2090G>C (p.Cys697Ser)
|
|
|
NM_000070.3(CAPN3):c.2092_2095dup (p.Ser699delinsThrTer)
|
|
|
NM_000070.3(CAPN3):c.2096G>A (p.Ser699Asn)
|
|
|
NM_000070.3(CAPN3):c.2102T>C (p.Ile701Thr)
|
rs1008776680
|
|
NM_000070.3(CAPN3):c.210A>G (p.Glu70=)
|
|
|
NM_000070.3(CAPN3):c.2112_2115+2del
|
|
|
NM_000070.3(CAPN3):c.2115+12G>A
|
|
|
NM_000070.3(CAPN3):c.2115+12G>C
|
|
|
NM_000070.3(CAPN3):c.2115+13C>G
|
|
|
NM_000070.3(CAPN3):c.2115+14C>T
|
|
|
NM_000070.3(CAPN3):c.2115+15G>A
|
|
|
NM_000070.3(CAPN3):c.2115+15G>C
|
|
|
NM_000070.3(CAPN3):c.2115+15G>T
|
|
|
NM_000070.3(CAPN3):c.2115+16_2115+25del
|
|
|
NM_000070.3(CAPN3):c.2115+19C>T
|
|
|
NM_000070.3(CAPN3):c.2115+1_2115+2dup
|
rs760919949
|
|
NM_000070.3(CAPN3):c.2115+2T>C
|
rs1555423060
|
|
NM_000070.3(CAPN3):c.2115+4T>G
|
rs752436906
|
|
NM_000070.3(CAPN3):c.2115+5C>G
|
|
|
NM_000070.3(CAPN3):c.2115+7T>G
|
|
|
NM_000070.3(CAPN3):c.2115T>C (p.Asp705=)
|
rs2054158589
|
|
NM_000070.3(CAPN3):c.2116-11C>T
|
|
|
NM_000070.3(CAPN3):c.2116-13C>T
|
rs765446375
|
|
NM_000070.3(CAPN3):c.2116-18C>T
|
|
|
NM_000070.3(CAPN3):c.2116-1G>A
|
|
|
NM_000070.3(CAPN3):c.2116-1G>C
|
|
|
NM_000070.3(CAPN3):c.2116-5T>C
|
|
|
NM_000070.3(CAPN3):c.2116-6C>T
|
rs1287322728
|
|
NM_000070.3(CAPN3):c.2116-7C>T
|
|
|
NM_000070.3(CAPN3):c.2116A>G (p.Thr706Ala)
|
rs2054176662
|
|
NM_000070.3(CAPN3):c.2117C>A (p.Thr706Lys)
|
|
|
NM_000070.3(CAPN3):c.2117C>G (p.Thr706Arg)
|
rs1335796666
|
|
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.211A>G (p.Lys71Glu)
|
rs1595794265
|
|
NM_000070.3(CAPN3):c.2129G>A (p.Gly710Glu)
|
|
|
NM_000070.3(CAPN3):c.212del (p.Lys71fs)
|
rs1555417321
|
|
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)
|
rs794727318
|
|
NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del)
|
|
|
NM_000070.3(CAPN3):c.2138A>C (p.Asn713Thr)
|
rs886044264
|
|
NM_000070.3(CAPN3):c.2140C>T (p.Leu714=)
|
|
|
NM_000070.3(CAPN3):c.2148G>A (p.Glu716=)
|
rs770894443
|
|
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)
|
rs770894443
|
|
NM_000070.3(CAPN3):c.2150T>A (p.Phe717Tyr)
|
|
|
NM_000070.3(CAPN3):c.2154C>T (p.His718=)
|
rs1351586112
|
|
NM_000070.3(CAPN3):c.2157C>T (p.His719=)
|
rs1490726640
|
|
NM_000070.3(CAPN3):c.2160C>T (p.Leu720=)
|
|
|
NM_000070.3(CAPN3):c.2161T>C (p.Trp721Arg)
|
|
|
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.2169G>A (p.Lys723=)
|
|
|
NM_000070.3(CAPN3):c.2173A>G (p.Lys725Glu)
|
rs759328241
|
|
NM_000070.3(CAPN3):c.2177C>T (p.Ala726Val)
|
rs2141223812
|
|
NM_000070.3(CAPN3):c.2178C>A (p.Ala726=)
|
rs2141223819
|
|
NM_000070.3(CAPN3):c.2179del (p.Trp727fs)
|
rs886042964
|
|
NM_000070.3(CAPN3):c.2184+11A>G
|
|
|
NM_000070.3(CAPN3):c.2184+16G>A
|
|
|
NM_000070.3(CAPN3):c.2184+17A>G
|
|
|
NM_000070.3(CAPN3):c.2184+2T>C
|
rs1555423146
|
|
NM_000070.3(CAPN3):c.2184+2T>G
|
|
|
NM_000070.3(CAPN3):c.2184+5G>A
|
rs2054181284
|
|
NM_000070.3(CAPN3):c.2184+7_2184+9del
|
|
|
NM_000070.3(CAPN3):c.2185-13T>G
|
|
|
NM_000070.3(CAPN3):c.2185-17A>C
|
|
|
NM_000070.3(CAPN3):c.2185-20C>G
|
|
|
NM_000070.3(CAPN3):c.2185-4C>A
|
rs1472624992
|
|
NM_000070.3(CAPN3):c.2185-5G>A
|
rs2054184751
|
|
NM_000070.3(CAPN3):c.2185-7T>C
|
|
|
NM_000070.3(CAPN3):c.2190T>C (p.Ile730=)
|
rs2141224176
|
|
NM_000070.3(CAPN3):c.2195A>C (p.Lys732Thr)
|
rs2141224186
|
|
NM_000070.3(CAPN3):c.219del (p.Leu74fs)
|
rs2141102673
|
|
NM_000070.3(CAPN3):c.2200T>C (p.Tyr734His)
|
|
|
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.2202T>C (p.Tyr734=)
|
rs367898987
|
|
NM_000070.3(CAPN3):c.2206_2211dup (p.Thr736_Asp737dup)
|
rs1555423156
|
|
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs)
|
rs587780289
|
|
NM_000070.3(CAPN3):c.2208A>G (p.Thr736=)
|
rs972263178
|
|
NM_000070.3(CAPN3):c.2209G>A (p.Asp737Asn)
|
|
|
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter)
|
rs1595847257
|
|
NM_000070.3(CAPN3):c.2217C>A (p.Ser739=)
|
rs148851444
|
|
NM_000070.3(CAPN3):c.2217C>G (p.Ser739=)
|
rs148851444
|
|
NM_000070.3(CAPN3):c.2220C>G (p.Gly740=)
|
rs2054186570
|
|
NM_000070.3(CAPN3):c.2226C>T (p.Ile742=)
|
|
|
NM_000070.3(CAPN3):c.2226_2240del (p.Ile742_Glu746del)
|
|
|
NM_000070.3(CAPN3):c.222T>C (p.Leu74=)
|
|
|
NM_000070.3(CAPN3):c.222T>G (p.Leu74=)
|
rs551850600
|
|
NM_000070.3(CAPN3):c.2230del (p.Ser744fs)
|
rs2054186817
|
|
NM_000070.3(CAPN3):c.2231G>A (p.Ser744Asn)
|
rs886044480
|
|
NM_000070.3(CAPN3):c.2231G>C (p.Ser744Thr)
|
rs886044480
|
|
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter)
|
rs147774793
|
|
NM_000070.3(CAPN3):c.2235C>G (p.Tyr745Ter)
|
|
|
NM_000070.3(CAPN3):c.2236G>C (p.Glu746Gln)
|
rs752155690
|
|
NM_000070.3(CAPN3):c.2236G>T (p.Glu746Ter)
|
|
|
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)
|
rs398123146
|
|
NM_000070.3(CAPN3):c.2242C>A (p.Arg748=)
|
rs768090444
|
|
NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly)
|
rs768090444
|
|
NM_000070.3(CAPN3):c.2245A>C (p.Asn749His)
|
rs201012232
|
|
NM_000070.3(CAPN3):c.224A>G (p.Tyr75Cys)
|
rs1555417323
|
|
NM_000070.3(CAPN3):c.2250A>C (p.Ala750=)
|
rs1396899657
|
|
NM_000070.3(CAPN3):c.2250A>G (p.Ala750=)
|
rs1396899657
|
|
NM_000070.3(CAPN3):c.2253C>T (p.Val751=)
|
|
|
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del)
|
rs886043333
|
|
NM_000070.3(CAPN3):c.2255dup (p.Asn752fs)
|
|
|
NM_000070.3(CAPN3):c.2256_2257del (p.Asn752fs)
|
|
|
NM_000070.3(CAPN3):c.2257delinsAA (p.Asp753fs)
|
|
|
NM_000070.3(CAPN3):c.225T>A (p.Tyr75Ter)
|
|
|
NM_000070.3(CAPN3):c.2260del (p.Ala754fs)
|
|
|
NM_000070.3(CAPN3):c.2263+11G>C
|
|
|
NM_000070.3(CAPN3):c.2263+13A>G
|
|
|
NM_000070.3(CAPN3):c.2263+13_2263+16del
|
rs2054188913
|
|
NM_000070.3(CAPN3):c.2263+15G>T
|
|
|
NM_000070.3(CAPN3):c.2263+17G>A
|
|
|
NM_000070.3(CAPN3):c.2263+18del
|
|
|
NM_000070.3(CAPN3):c.2263+1G>A
|
rs886044475
|
|
NM_000070.3(CAPN3):c.2263+3G>C
|
rs2054188689
|
|
NM_000070.3(CAPN3):c.2263+5T>C
|
|
|
NM_000070.3(CAPN3):c.2263G>A (p.Gly755Arg)
|
|
|
NM_000070.3(CAPN3):c.2264-10C>A
|
|
|
NM_000070.3(CAPN3):c.2264-10C>T
|
|
|
NM_000070.3(CAPN3):c.2264-16A>G
|
|
|
NM_000070.3(CAPN3):c.2264-5C>G
|
|
|
NM_000070.3(CAPN3):c.2264-5C>T
|
|
|
NM_000070.3(CAPN3):c.2264-7T>A
|
rs2054199758
|
|
NM_000070.3(CAPN3):c.2264G>A (p.Gly755Glu)
|
|
|
NM_000070.3(CAPN3):c.226G>C (p.Val76Leu)
|
|
|
NM_000070.3(CAPN3):c.2271C>T (p.His757=)
|
rs1175152438
|
|
NM_000070.3(CAPN3):c.2271_2282dup (p.His757_Asn760dup)
|
rs1595847810
|
|
NM_000070.3(CAPN3):c.2272C>T (p.Leu758Phe)
|
|
|
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)
|
rs775130589
|
|
NM_000070.3(CAPN3):c.227del (p.Val76fs)
|
|
|
NM_000070.3(CAPN3):c.2281C>T (p.Gln761Ter)
|
|
|
NM_000070.3(CAPN3):c.2289T>G (p.Tyr763Ter)
|
|
|
NM_000070.3(CAPN3):c.2294T>C (p.Ile765Thr)
|
|
|
NM_000070.3(CAPN3):c.2295C>A (p.Ile765=)
|
|
|
NM_000070.3(CAPN3):c.2297_2299del (p.Ile766del)
|
rs1555423200
|
|
NM_000070.3(CAPN3):c.229G>A (p.Asp77Asn)
|
rs2141102703
|
|
NM_000070.3(CAPN3):c.2301del (p.Met768fs)
|
rs2141225604
|
|
NM_000070.3(CAPN3):c.2302A>G (p.Met768Val)
|
|
|
NM_000070.3(CAPN3):c.2305C>A (p.Arg769=)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.2306G>C (p.Arg769Pro)
|
rs80338802
|
|
NM_000070.3(CAPN3):c.2306G>T (p.Arg769Leu)
|
|
|
NM_000070.3(CAPN3):c.2308T>G (p.Tyr770Asp)
|
|
|
NM_000070.3(CAPN3):c.2308dup (p.Tyr770fs)
|
|
|
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.2314G>A (p.Asp772Asn)
|
|
|
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.2319dup (p.His774fs)
|
|
|
NM_000070.3(CAPN3):c.2327A>G (p.Asn776Ser)
|
rs1085307534
|
|
NM_000070.3(CAPN3):c.2328C>T (p.Asn776=)
|
|
|
NM_000070.3(CAPN3):c.2330T>C (p.Ile777Thr)
|
rs1457098622
|
|
NM_000070.3(CAPN3):c.2333_2336dup (p.Phe779fs)
|
|
|
NM_000070.3(CAPN3):c.2337T>C (p.Phe779=)
|
rs2054205133
|
|
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter)
|
rs1447774727
|
|
NM_000070.3(CAPN3):c.233del (p.Pro78fs)
|
|
|
NM_000070.3(CAPN3):c.2340C>T (p.Asp780=)
|
rs1413886982
|
|
NM_000070.3(CAPN3):c.2340_2341del (p.Asp780fs)
|
|
|
NM_000070.3(CAPN3):c.2355C>T (p.Cys785=)
|
rs2141225879
|
|
NM_000070.3(CAPN3):c.235G>C (p.Glu79Gln)
|
rs1555417328
|
|
NM_000070.3(CAPN3):c.2362A>C (p.Arg788=)
|
rs760891133
|
|
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)
|
rs1555423217
|
|
NM_000070.3(CAPN3):c.2363G>A (p.Arg788Lys)
|
rs769208910
|
|
NM_000070.3(CAPN3):c.2364G>A (p.Arg788=)
|
rs2141225975
|
|
NM_000070.3(CAPN3):c.2367G>A (p.Leu789=)
|
rs776998932
|
|
NM_000070.3(CAPN3):c.2375T>A (p.Met792Lys)
|
|
|
NM_000070.3(CAPN3):c.2375T>C (p.Met792Thr)
|
|
|
NM_000070.3(CAPN3):c.237del (p.Glu79fs)
|
rs760205277
|
|
NM_000070.3(CAPN3):c.2380+11del
|
|
|
NM_000070.3(CAPN3):c.2380+12A>G
|
|
|
NM_000070.3(CAPN3):c.2380+13G>A
|
rs542367782
|
|
NM_000070.3(CAPN3):c.2380+13G>C
|
|
|
NM_000070.3(CAPN3):c.2380+14G>A
|
|
|
NM_000070.3(CAPN3):c.2380+17_2380+26del
|
|
|
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.2380+7G>A
|
rs1437762605
|
|
NM_000070.3(CAPN3):c.2380A>T (p.Arg794Ter)
|
rs2054206966
|
|
NM_000070.3(CAPN3):c.2381-14G>A
|
|
|
NM_000070.3(CAPN3):c.2381-16G>C
|
|
|
NM_000070.3(CAPN3):c.2381-17_2381-15dup
|
|
|
NM_000070.3(CAPN3):c.2381-18C>T
|
|
|
NM_000070.3(CAPN3):c.2381-2A>C
|
|
|
NM_000070.3(CAPN3):c.2381-2A>G
|
rs863224962
|
|
NM_000070.3(CAPN3):c.2381-4A>C
|
|
|
NM_000070.3(CAPN3):c.2381-5C>T
|
|
|
NM_000070.3(CAPN3):c.2381-9C>A
|
|
|
NM_000070.3(CAPN3):c.2387T>C (p.Phe796Ser)
|
|
|
NM_000070.3(CAPN3):c.2391T>C (p.His797=)
|
|
|
NM_000070.3(CAPN3):c.239T>C (p.Phe80Ser)
|
rs886042800
|
|
NM_000070.3(CAPN3):c.2409A>T (p.Gly803=)
|
rs143139259
|
|
NM_000070.3(CAPN3):c.240C>G (p.Phe80Leu)
|
rs2052598737
|
|
NM_000070.3(CAPN3):c.2416_2417dup (p.Ile807fs)
|
rs1131691320
|
|
NM_000070.3(CAPN3):c.2430del (p.Asn810fs)
|
|
|
NM_000070.3(CAPN3):c.2431G>C (p.Val811Leu)
|
|
|
NM_000070.3(CAPN3):c.2439+16A>G
|
|
|
NM_000070.3(CAPN3):c.2439+1G>T
|
|
|
NM_000070.3(CAPN3):c.2439+7C>G
|
rs1425011178
|
|
NM_000070.3(CAPN3):c.243A>G (p.Pro81=)
|
|
|
NM_000070.3(CAPN3):c.2440-10CTT[3]
|
|
|
NM_000070.3(CAPN3):c.2440-11A>G
|
|
|
NM_000070.3(CAPN3):c.2440-12G>T
|
rs2141230335
|
|
NM_000070.3(CAPN3):c.2440-15T>A
|
|
|
NM_000070.3(CAPN3):c.2440-15T>C
|
|
|
NM_000070.3(CAPN3):c.2440-1G>C
|
rs886044052
|
|
NM_000070.3(CAPN3):c.2440-2A>G
|
rs769688710
|
|
NM_000070.3(CAPN3):c.2440-4T>C
|
rs1361102122
|
|
NM_000070.3(CAPN3):c.2440-6_2440-3del
|
rs1555423426
|
|
NM_000070.3(CAPN3):c.2440-75C>G
|
rs184526584
|
|
NM_000070.3(CAPN3):c.2440-7C>T
|
|
|
NM_000070.3(CAPN3):c.2440-8_2440-7insA
|
rs1555423427
|
|
NM_000070.3(CAPN3):c.2440T>C (p.Trp814Arg)
|
|
|
NM_000070.3(CAPN3):c.2441G>A (p.Trp814Ter)
|
|
|
NM_000070.3(CAPN3):c.2442G>A (p.Trp814Ter)
|
|
|
NM_000070.3(CAPN3):c.2442G>C (p.Trp814Cys)
|
rs1595850277
|
|
NM_000070.3(CAPN3):c.2443C>G (p.Leu815Val)
|
|
|
NM_000070.3(CAPN3):c.2449C>T (p.Leu817Phe)
|
rs2054258897
|
|
NM_000070.3(CAPN3):c.2451C>T (p.Leu817=)
|
rs2141230477
|
|
NM_000070.3(CAPN3):c.2456_*4del (p.Met819_Ter822delinsXaa)
|
|
|
NM_000070.3(CAPN3):c.2458T>A (p.Tyr820Asn)
|
|
|
NM_000070.3(CAPN3):c.245del (p.Pro82fs)
|
|
|
NM_000070.3(CAPN3):c.2460T>C (p.Tyr820=)
|
rs1021209064
|
|
NM_000070.3(CAPN3):c.2462C>T (p.Ala821Val)
|
rs398123148
|
|
NM_000070.3(CAPN3):c.249_253del (p.Glu84fs)
|
|
|
NM_000070.3(CAPN3):c.250G>T (p.Glu84Ter)
|
|
|
NM_000070.3(CAPN3):c.257del (p.Ser86fs)
|
|
|
NM_000070.3(CAPN3):c.258T>C (p.Ser86=)
|
rs2141102790
|
|
NM_000070.3(CAPN3):c.25G>C (p.Val9Leu)
|
rs2052590373
|
|
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.266A>G (p.Tyr89Cys)
|
|
|
NM_000070.3(CAPN3):c.281C>T (p.Pro94Leu)
|
rs2052600414
|
|
NM_000070.3(CAPN3):c.282C>T (p.Pro94=)
|
rs2141102887
|
|
NM_000070.3(CAPN3):c.285C>T (p.Ile95=)
|
|
|
NM_000070.3(CAPN3):c.286C>T (p.Gln96Ter)
|
rs1476836379
|
|
NM_000070.3(CAPN3):c.287A>G (p.Gln96Arg)
|
rs2141102905
|
|
NM_000070.3(CAPN3):c.288G>A (p.Gln96=)
|
rs374708755
|
|
NM_000070.3(CAPN3):c.290dup (p.Val98fs)
|
rs1595794433
|
|
NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu)
|
rs758058910
|
|
NM_000070.3(CAPN3):c.294C>A (p.Val98=)
|
rs147493037
|
|
NM_000070.3(CAPN3):c.2T>C (p.Met1Thr)
|
rs1555417257
|
|
NM_000070.3(CAPN3):c.304C>T (p.Pro102Ser)
|
rs2141102957
|
|
NM_000070.3(CAPN3):c.305C>T (p.Pro102Leu)
|
rs886042315
|
|
NM_000070.3(CAPN3):c.309+15G>A
|
|
|
NM_000070.3(CAPN3):c.309+1G>A
|
|
|
NM_000070.3(CAPN3):c.309+7A>G
|
rs2052601419
|
|
NM_000070.3(CAPN3):c.309+8G>A
|
|
|
NM_000070.3(CAPN3):c.310-14T>C
|
|
|
NM_000070.3(CAPN3):c.310-15C>T
|
|
|
NM_000070.3(CAPN3):c.315T>C (p.Ile105=)
|
|
|
NM_000070.3(CAPN3):c.317G>C (p.Cys106Ser)
|
|
|
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.323A>G (p.Asn108Ser)
|
rs2053333610
|
|
NM_000070.3(CAPN3):c.324T>A (p.Asn108Lys)
|
rs2141155500
|
|
NM_000070.3(CAPN3):c.326C>A (p.Pro109His)
|
rs2141155515
|
|
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.334A>G (p.Ile112Val)
|
|
|
NM_000070.3(CAPN3):c.337A>G (p.Ile113Val)
|
rs2053334758
|
|
NM_000070.3(CAPN3):c.339T>C (p.Ile113=)
|
|
|
NM_000070.3(CAPN3):c.343G>T (p.Gly115Ter)
|
rs2053335168
|
|
NM_000070.3(CAPN3):c.345A>G (p.Gly115=)
|
|
|
NM_000070.3(CAPN3):c.346del (p.Ala116fs)
|
|
|
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp)
|
rs2053335268
|
|
NM_000070.3(CAPN3):c.349A>G (p.Asn117Asp)
|
|
|
NM_000070.3(CAPN3):c.352A>G (p.Arg118Gly)
|
rs1566973583
|
|
NM_000070.3(CAPN3):c.355A>G (p.Thr119Ala)
|
rs1218735599
|
|
NM_000070.3(CAPN3):c.358G>A (p.Asp120Asn)
|
rs765935351
|
|
NM_000070.3(CAPN3):c.360C>A (p.Asp120Glu)
|
rs886043027
|
|
NM_000070.3(CAPN3):c.361A>G (p.Ile121Val)
|
|
|
NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys)
|
rs886043437
|
|
NM_000070.3(CAPN3):c.369del (p.Gly124fs)
|
rs1555420083
|
|
NM_000070.3(CAPN3):c.372A>G (p.Gly124=)
|
|
|
NM_000070.3(CAPN3):c.377T>C (p.Leu126Pro)
|
|
|
NM_000070.3(CAPN3):c.379+15C>G
|
|
|
NM_000070.3(CAPN3):c.379+16A>G
|
|
|
NM_000070.3(CAPN3):c.379+18G>A
|
|
|
NM_000070.3(CAPN3):c.379+1G>A
|
|
|
NM_000070.3(CAPN3):c.379+3A>T
|
rs1164215001
|
|
NM_000070.3(CAPN3):c.379+5G>T
|
rs886042704
|
|
NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg)
|
|
|
NM_000070.3(CAPN3):c.39A>G (p.Thr13=)
|
|
|
NM_000070.3(CAPN3):c.3G>T (p.Met1Ile)
|
|
|
NM_000070.3(CAPN3):c.41C>A (p.Ala14Glu)
|
|
|
NM_000070.3(CAPN3):c.42G>C (p.Ala14=)
|
rs574443072
|
|
NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys)
|
rs772580081
|
|
NM_000070.3(CAPN3):c.499-10T>C
|
rs747144192
|
|
NM_000070.3(CAPN3):c.499-12G>A
|
rs2053441522
|
|
NM_000070.3(CAPN3):c.499-15G>A
|
|
|
NM_000070.3(CAPN3):c.499-17G>A
|
|
|
NM_000070.3(CAPN3):c.499-19G>A
|
|
|
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser)
|
rs886042296
|
|
NM_000070.3(CAPN3):c.501C>T (p.Phe167=)
|
rs2141164547
|
|
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)
|
rs1555420462
|
|
NM_000070.3(CAPN3):c.506G>A (p.Arg169His)
|
|
|
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)
|
rs1555420468
|
|
NM_000070.3(CAPN3):c.509dup (p.Tyr170Ter)
|
rs1595821204
|
|
NM_000070.3(CAPN3):c.512G>A (p.Gly171Glu)
|
rs2141164606
|
|
NM_000070.3(CAPN3):c.517T>G (p.Trp173Gly)
|
|
|
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.51C>T (p.Pro17=)
|
rs1392565832
|
|
NM_000070.3(CAPN3):c.526G>A (p.Val176Met)
|
rs774114705
|
|
NM_000070.3(CAPN3):c.526G>T (p.Val176Leu)
|
rs774114705
|
|
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)
|
rs794727615
|
|
NM_000070.3(CAPN3):c.537T>C (p.Asp179=)
|
rs2141164696
|
|
NM_000070.3(CAPN3):c.539A>G (p.Asp180Gly)
|
|
|
NM_000070.3(CAPN3):c.543C>A (p.Cys181Ter)
|
|
|
NM_000070.3(CAPN3):c.544C>T (p.Leu182=)
|
|
|
NM_000070.3(CAPN3):c.545T>A (p.Leu182Gln)
|
rs2141164715
|
|
NM_000070.3(CAPN3):c.54G>C (p.Arg18=)
|
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.553T>G (p.Tyr185Asp)
|
rs1566975069
|
|
NM_000070.3(CAPN3):c.555C>G (p.Tyr185Ter)
|
|
|
NM_000070.3(CAPN3):c.555C>T (p.Tyr185=)
|
rs763449646
|
|
NM_000070.3(CAPN3):c.562del (p.Gln188fs)
|
rs1566975090
|
|
NM_000070.3(CAPN3):c.564A>G (p.Gln188=)
|
|
|
NM_000070.3(CAPN3):c.565C>T (p.Leu189=)
|
|
|
NM_000070.3(CAPN3):c.570T>C (p.Val190=)
|
|
|
NM_000070.3(CAPN3):c.572T>G (p.Phe191Cys)
|
rs2141164830
|
|
NM_000070.3(CAPN3):c.573C>T (p.Phe191=)
|
rs2141164833
|
|
NM_000070.3(CAPN3):c.57C>T (p.Ser19=)
|
|
|
NM_000070.3(CAPN3):c.580del (p.Ser194fs)
|
rs398123149
|
|
NM_000070.3(CAPN3):c.581C>T (p.Ser194Phe)
|
rs886043143
|
|
NM_000070.3(CAPN3):c.584A>C (p.Asn195Thr)
|
rs148855999
|
|
NM_000070.3(CAPN3):c.584A>G (p.Asn195Ser)
|
rs148855999
|
|
NM_000070.3(CAPN3):c.590G>A (p.Arg197His)
|
rs768426565
|
|
NM_000070.3(CAPN3):c.590G>T (p.Arg197Leu)
|
rs768426565
|
|
NM_000070.3(CAPN3):c.597G>A (p.Glu199=)
|
rs2141164922
|
|
NM_000070.3(CAPN3):c.597G>T (p.Glu199Asp)
|
|
|
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.5C>G (p.Pro2Arg)
|
|
|
NM_000070.3(CAPN3):c.600C>G (p.Phe200Leu)
|
|
|
NM_000070.3(CAPN3):c.600C>T (p.Phe200=)
|
|
|
NM_000070.3(CAPN3):c.602G>C (p.Trp201Ser)
|
|
|
NM_000070.3(CAPN3):c.608C>G (p.Ala203Gly)
|
rs763719290
|
|
NM_000070.3(CAPN3):c.609T>G (p.Ala203=)
|
rs2053446111
|
|
NM_000070.3(CAPN3):c.60del (p.Pro22fs)
|
rs1566965857
|
|
NM_000070.3(CAPN3):c.612G>A (p.Leu204=)
|
rs2141164979
|
|
NM_000070.3(CAPN3):c.613C>G (p.Leu205Val)
|
|
|
NM_000070.3(CAPN3):c.616del (p.Glu206fs)
|
rs2053446296
|
|
NM_000070.3(CAPN3):c.618G>A (p.Glu206=)
|
rs541597520
|
|
NM_000070.3(CAPN3):c.619_620delinsGC (p.Lys207Ala)
|
rs2141165016
|
|
NM_000070.3(CAPN3):c.61G>T (p.Gly21Trp)
|
rs886043070
|
|
NM_000070.3(CAPN3):c.620A>C (p.Lys207Thr)
|
rs886043108
|
|
NM_000070.3(CAPN3):c.622G>T (p.Ala208Ser)
|
rs1566975157
|
|
NM_000070.3(CAPN3):c.626dup (p.Tyr209Ter)
|
|
|
NM_000070.3(CAPN3):c.628G>A (p.Ala210Thr)
|
rs2141165044
|
|
NM_000070.3(CAPN3):c.629C>G (p.Ala210Gly)
|
rs2053446874
|
|
NM_000070.3(CAPN3):c.631A>G (p.Lys211Glu)
|
rs1039308482
|
|
NM_000070.3(CAPN3):c.632+12T>G
|
|
|
NM_000070.3(CAPN3):c.632+14T>C
|
|
|
NM_000070.3(CAPN3):c.632+1del
|
rs1566975163
|
|
NM_000070.3(CAPN3):c.632+20G>T
|
|
|
NM_000070.3(CAPN3):c.632+4A>G
|
rs1555420507
|
|
NM_000070.3(CAPN3):c.632+8A>G
|
rs2053447422
|
|
NM_000070.3(CAPN3):c.632A>G (p.Lys211Arg)
|
|
|
NM_000070.3(CAPN3):c.633-14A>G
|
|
|
NM_000070.3(CAPN3):c.633-14A>T
|
|
|
NM_000070.3(CAPN3):c.633-14_633-11del
|
|
|
NM_000070.3(CAPN3):c.633-15C>A
|
|
|
NM_000070.3(CAPN3):c.633-15C>T
|
|
|
NM_000070.3(CAPN3):c.633-19T>C
|
|
|
NM_000070.3(CAPN3):c.633-1G>A
|
|
|
NM_000070.3(CAPN3):c.633-2A>C
|
|
|
NM_000070.3(CAPN3):c.633-2A>G
|
|
|
NM_000070.3(CAPN3):c.633-5C>T
|
|
|
NM_000070.3(CAPN3):c.633-8T>C
|
rs1595822560
|
|
NM_000070.3(CAPN3):c.633G>T (p.Lys211Asn)
|
|
|
NM_000070.3(CAPN3):c.636C>T (p.Leu212=)
|
rs2141167614
|
|
NM_000070.3(CAPN3):c.638A>G (p.His213Arg)
|
rs768447053
|
|
NM_000070.3(CAPN3):c.63G>A (p.Gly21=)
|
rs2052591879
|
|
NM_000070.3(CAPN3):c.63del (p.Pro22fs)
|
|
|
NM_000070.3(CAPN3):c.641G>A (p.Gly214Asp)
|
rs761430243
|
|
NM_000070.3(CAPN3):c.642T>G (p.Gly214=)
|
rs2141167656
|
|
NM_000070.3(CAPN3):c.643T>C (p.Ser215Pro)
|
rs2053478068
|
|
NM_000070.3(CAPN3):c.644C>T (p.Ser215Phe)
|
rs1566975550
|
|
NM_000070.3(CAPN3):c.646T>C (p.Tyr216His)
|
rs2141167665
|
|
NM_000070.3(CAPN3):c.648C>G (p.Tyr216Ter)
|
rs138846390
|
|
NM_000070.3(CAPN3):c.651A>G (p.Glu217=)
|
|
|
NM_000070.3(CAPN3):c.652G>C (p.Ala218Pro)
|
rs1555420621
|
|
NM_000070.3(CAPN3):c.661G>A (p.Gly221Ser)
|
rs1432632972
|
|
NM_000070.3(CAPN3):c.661G>T (p.Gly221Cys)
|
rs1432632972
|
|
NM_000070.3(CAPN3):c.663T>C (p.Gly221=)
|
rs2141167702
|
|
NM_000070.3(CAPN3):c.664G>C (p.Gly222Arg)
|
|
|
NM_000070.3(CAPN3):c.665G>A (p.Gly222Glu)
|
|
|
NM_000070.3(CAPN3):c.666G>A (p.Gly222=)
|
rs2141167714
|
|
NM_000070.3(CAPN3):c.668A>C (p.Asn223Thr)
|
|
|
NM_000070.3(CAPN3):c.669C>T (p.Asn223=)
|
rs762688656
|
|
NM_000070.3(CAPN3):c.66A>G (p.Pro22=)
|
|
|
NM_000070.3(CAPN3):c.670A>T (p.Thr224Ser)
|
rs2141167741
|
|
NM_000070.3(CAPN3):c.672C>G (p.Thr224=)
|
rs2141167755
|
|
NM_000070.3(CAPN3):c.673A>G (p.Thr225Ala)
|
rs2053479373
|
|
NM_000070.3(CAPN3):c.679G>A (p.Ala227Thr)
|
rs1595822648
|
|
NM_000070.3(CAPN3):c.679G>C (p.Ala227Pro)
|
rs1595822648
|
|
NM_000070.3(CAPN3):c.67G>C (p.Val23Leu)
|
|
|
NM_000070.3(CAPN3):c.680C>T (p.Ala227Val)
|
rs1566975567
|
|
NM_000070.3(CAPN3):c.688G>C (p.Asp230His)
|
rs2053479765
|
|
NM_000070.3(CAPN3):c.689A>G (p.Asp230Gly)
|
rs1555420629
|
|
NM_000070.3(CAPN3):c.690C>T (p.Asp230=)
|
rs1315657432
|
|
NM_000070.3(CAPN3):c.692T>C (p.Phe231Ser)
|
rs1054458336
|
|
NM_000070.3(CAPN3):c.694A>C (p.Thr232Pro)
|
rs886044405
|
|
NM_000070.3(CAPN3):c.698G>A (p.Gly233Glu)
|
|
|
NM_000070.3(CAPN3):c.6G>T (p.Pro2=)
|
rs117480333
|
|
NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg)
|
rs886042440
|
|
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)
|
rs1555420634
|
|
NM_000070.3(CAPN3):c.702G>C (p.Gly234=)
|
rs766821209
|
|
NM_000070.3(CAPN3):c.703G>A (p.Val235Met)
|
rs1302248441
|
|
NM_000070.3(CAPN3):c.703del (p.Val235fs)
|
|
|
NM_000070.3(CAPN3):c.705G>A (p.Val235=)
|
|
|
NM_000070.3(CAPN3):c.708A>G (p.Ala236=)
|
rs2141167878
|
|
NM_000070.3(CAPN3):c.712T>A (p.Phe238Ile)
|
|
|
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.728_762dup (p.Ala255delinsMetLeuLeuValThrCysThrArgSerTer)
|
|
|
NM_000070.3(CAPN3):c.729T>C (p.Asp243=)
|
|
|
NM_000070.3(CAPN3):c.733C>T (p.Pro245Ser)
|
|
|
NM_000070.3(CAPN3):c.735_741del (p.Ser246fs)
|
|
|
NM_000070.3(CAPN3):c.739G>A (p.Asp247Asn)
|
rs1251403881
|
|
NM_000070.3(CAPN3):c.740A>G (p.Asp247Gly)
|
rs2141168006
|
|
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.747C>G (p.Tyr249Ter)
|
rs757448865
|
|
NM_000070.3(CAPN3):c.747C>T (p.Tyr249=)
|
|
|
NM_000070.3(CAPN3):c.753C>T (p.Ile251=)
|
rs2053483857
|
|
NM_000070.3(CAPN3):c.754A>G (p.Met252Val)
|
rs2053483911
|
|
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)
|
rs794727697
|
|
NM_000070.3(CAPN3):c.75C>T (p.His25=)
|
|
|
NM_000070.3(CAPN3):c.75_83del (p.His25_Ala27del)
|
rs1555417278
|
|
NM_000070.3(CAPN3):c.760A>T (p.Lys254Ter)
|
|
|
NM_000070.3(CAPN3):c.765C>T (p.Ala255=)
|
|
|
NM_000070.3(CAPN3):c.768C>T (p.Ile256=)
|
rs748032310
|
|
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)
|
rs2053484604
|
|
NM_000070.3(CAPN3):c.775G>A (p.Gly259Ser)
|
|
|
NM_000070.3(CAPN3):c.779C>T (p.Ser260Phe)
|
|
|
NM_000070.3(CAPN3):c.77C>G (p.Pro26Arg)
|
rs762020512
|
|
NM_000070.3(CAPN3):c.77C>T (p.Pro26Leu)
|
rs762020512
|
|
NM_000070.3(CAPN3):c.783C>T (p.Leu261=)
|
rs1566975668
|
|
NM_000070.3(CAPN3):c.784A>G (p.Met262Val)
|
|
|
NM_000070.3(CAPN3):c.784A>T (p.Met262Leu)
|
|
|
NM_000070.3(CAPN3):c.788G>A (p.Gly263Asp)
|
rs886042588
|
|
NM_000070.3(CAPN3):c.78G>T (p.Pro26=)
|
rs62642519
|
|
NM_000070.3(CAPN3):c.791G>A (p.Cys264Tyr)
|
rs2053485296
|
|
NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro)
|
rs2053485355
|
|
NM_000070.3(CAPN3):c.793T>G (p.Ser265Ala)
|
rs2053485355
|
|
NM_000070.3(CAPN3):c.796del (p.Ile266fs)
|
rs2053485642
|
|
NM_000070.3(CAPN3):c.798T>C (p.Ile266=)
|
rs2141168232
|
|
NM_000070.3(CAPN3):c.801+10G>A
|
rs2141168252
|
|
NM_000070.3(CAPN3):c.801+10G>C
|
|
|
NM_000070.3(CAPN3):c.801+13T>G
|
|
|
NM_000070.3(CAPN3):c.801+15T>C
|
|
|
NM_000070.3(CAPN3):c.801+17G>A
|
|
|
NM_000070.3(CAPN3):c.801+18G>A
|
|
|
NM_000070.3(CAPN3):c.801+1G>A
|
rs1459288402
|
|
NM_000070.3(CAPN3):c.801+20C>T
|
|
|
NM_000070.3(CAPN3):c.801+2T>G
|
|
|
NM_000070.3(CAPN3):c.801+3A>C
|
|
|
NM_000070.3(CAPN3):c.802-12A>G
|
|
|
NM_000070.3(CAPN3):c.802-15T>C
|
|
|
NM_000070.3(CAPN3):c.802-19A>G
|
|
|
NM_000070.3(CAPN3):c.802-1G>A
|
|
|
NM_000070.3(CAPN3):c.802-2A>G
|
rs2141170197
|
|
NM_000070.3(CAPN3):c.802-3C>T
|
rs1376586945
|
|
NM_000070.3(CAPN3):c.802-8G>C
|
rs2141170176
|
|
NM_000070.3(CAPN3):c.802-9G>C
|
|
|
NM_000070.3(CAPN3):c.806G>C (p.Gly269Ala)
|
|
|
NM_000070.3(CAPN3):c.806del (p.Gly269fs)
|
rs2053509916
|
|
NM_000070.3(CAPN3):c.807C>T (p.Gly269=)
|
|
|
NM_000070.3(CAPN3):c.809C>T (p.Thr270Met)
|
rs1219356790
|
|
NM_000070.3(CAPN3):c.810G>C (p.Thr270=)
|
rs777076120
|
|
NM_000070.3(CAPN3):c.814A>G (p.Met272Val)
|
|
|
NM_000070.3(CAPN3):c.814A>T (p.Met272Leu)
|
|
|
NM_000070.3(CAPN3):c.817del (p.Thr273fs)
|
|
|
NM_000070.3(CAPN3):c.819del (p.Tyr274fs)
|
|
|
NM_000070.3(CAPN3):c.828C>G (p.Thr276=)
|
|
|
NM_000070.3(CAPN3):c.828C>T (p.Thr276=)
|
rs2141170297
|
|
NM_000070.3(CAPN3):c.830C>T (p.Ser277Phe)
|
|
|
NM_000070.3(CAPN3):c.835_837del (p.Ser279del)
|
rs776185666
|
|
NM_000070.3(CAPN3):c.843G>C (p.Leu281=)
|
rs1178669557
|
|
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)
|
rs1555420765
|
|
NM_000070.3(CAPN3):c.848_849dup (p.Gly284fs)
|
|
|
NM_000070.3(CAPN3):c.851_853del (p.Gly284del)
|
|
|
NM_000070.3(CAPN3):c.852G>C (p.Gly284=)
|
|
|
NM_000070.3(CAPN3):c.853G>T (p.Glu285Ter)
|
|
|
NM_000070.3(CAPN3):c.855_864dup (p.Arg289fs)
|
rs398123150
|
|
NM_000070.3(CAPN3):c.856T>C (p.Leu286=)
|
rs2141170359
|
|
NM_000070.3(CAPN3):c.859A>G (p.Ile287Val)
|
rs1595823793
|
|
NM_000070.3(CAPN3):c.864A>G (p.Ala288=)
|
rs1555420768
|
|
NM_000070.3(CAPN3):c.871G>A (p.Val291Ile)
|
|
|
NM_000070.3(CAPN3):c.871del (p.Met290_Val291insTer)
|
|
|
NM_000070.3(CAPN3):c.874A>T (p.Arg292Trp)
|
rs1555420773
|
|
NM_000070.3(CAPN3):c.876G>A (p.Arg292=)
|
|
|
NM_000070.3(CAPN3):c.881T>G (p.Met294Arg)
|
|
|
NM_000070.3(CAPN3):c.882G>A (p.Met294Ile)
|
rs2141170446
|
|
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)
|
rs863224966
|
|
NM_000070.3(CAPN3):c.883_886dup (p.Asn296delinsArgTer)
|
|
|
NM_000070.3(CAPN3):c.885T>C (p.Asp295=)
|
|
|
NM_000070.3(CAPN3):c.892C>T (p.Leu298=)
|
|
|
NM_000070.3(CAPN3):c.896T>A (p.Leu299His)
|
rs985712258
|
|
NM_000070.3(CAPN3):c.898C>T (p.Gln300Ter)
|
rs2141170517
|
|
NM_000070.3(CAPN3):c.903C>A (p.Asp301Glu)
|
rs2141170523
|
|
NM_000070.3(CAPN3):c.909C>T (p.Asp303=)
|
|
|
NM_000070.3(CAPN3):c.912C>T (p.Leu304=)
|
|
|
NM_000070.3(CAPN3):c.913G>C (p.Asp305His)
|
rs753780627
|
|
NM_000070.3(CAPN3):c.915C>T (p.Asp305=)
|
rs757200858
|
|
NM_000070.3(CAPN3):c.916C>T (p.Pro306Ser)
|
|
|
NM_000070.3(CAPN3):c.918C>T (p.Pro306=)
|
rs2141170580
|
|
NM_000070.3(CAPN3):c.920G>A (p.Arg307Lys)
|
|
|
NM_000070.3(CAPN3):c.921A>G (p.Arg307=)
|
rs2141170591
|
|
NM_000070.3(CAPN3):c.928G>A (p.Asp310Asn)
|
|
|
NM_000070.3(CAPN3):c.931G>T (p.Glu311Ter)
|
|
|
NM_000070.3(CAPN3):c.934A>G (p.Arg312Gly)
|
|
|
NM_000070.3(CAPN3):c.939G>C (p.Pro313=)
|
|
|
NM_000070.3(CAPN3):c.942C>T (p.Thr314=)
|
|
|
NM_000070.3(CAPN3):c.943C>G (p.Arg315Gly)
|
|
|
NM_000070.3(CAPN3):c.945+11C>T
|
|
|
NM_000070.3(CAPN3):c.945+13C>G
|
|
|
NM_000070.3(CAPN3):c.945+14C>A
|
|
|
NM_000070.3(CAPN3):c.945+15G>T
|
|
|
NM_000070.3(CAPN3):c.945+18dup
|
|
|
NM_000070.3(CAPN3):c.945+19A>T
|
|
|
NM_000070.3(CAPN3):c.945+1G>A
|
|
|
NM_000070.3(CAPN3):c.945+1G>T
|
rs1375420170
|
|
NM_000070.3(CAPN3):c.945+5G>A
|
rs773547765
|
|
NM_000070.3(CAPN3):c.945+8C>T
|
rs2053515736
|
|
NM_000070.3(CAPN3):c.945G>A (p.Arg315=)
|
|
|
NM_000070.3(CAPN3):c.945G>C (p.Arg315=)
|
|
|
NM_000070.3(CAPN3):c.945_945+47dup
|
|
|
NM_000070.3(CAPN3):c.946-11C>A
|
|
|
NM_000070.3(CAPN3):c.946-13T>C
|
|
|
NM_000070.3(CAPN3):c.946-15G>A
|
|
|
NM_000070.3(CAPN3):c.946-18C>G
|
|
|
NM_000070.3(CAPN3):c.946-19T>C
|
|
|
NM_000070.3(CAPN3):c.946-1G>A
|
rs80338801
|
|
NM_000070.3(CAPN3):c.946-1_948del
|
rs766156798
|
|
NM_000070.3(CAPN3):c.946-20C>T
|
|
|
NM_000070.3(CAPN3):c.946-2A>G
|
rs1595826673
|
|
NM_000070.3(CAPN3):c.946-4A>G
|
rs2141176675
|
|
NM_000070.3(CAPN3):c.946-5T>C
|
rs2141176666
|
|
NM_000070.3(CAPN3):c.946-8C>G
|
|
|
NM_000070.3(CAPN3):c.946-8C>T
|
|
|
NM_000070.3(CAPN3):c.946-9_946-5del
|
rs758101156
|
|
NM_000070.3(CAPN3):c.948A>G (p.Thr316=)
|
|
|
NM_000070.3(CAPN3):c.948A>T (p.Thr316=)
|
rs2141176700
|
|
NM_000070.3(CAPN3):c.949dup (p.Ile317fs)
|
|
|
NM_000070.3(CAPN3):c.951C>T (p.Ile317=)
|
rs775525936
|
|
NM_000070.3(CAPN3):c.956C>G (p.Pro319Arg)
|
|
|
NM_000070.3(CAPN3):c.965A>G (p.Tyr322Cys)
|
rs2053589191
|
|
NM_000070.3(CAPN3):c.966T>A (p.Tyr322Ter)
|
rs2141176797
|
|
NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)
|
rs750443041
|
|
NM_000070.3(CAPN3):c.96_97inv (p.Glu33Lys)
|
|
|
NM_000070.3(CAPN3):c.972A>G (p.Thr324=)
|
|
|
NM_000070.3(CAPN3):c.972_973dup (p.Arg325fs)
|
|
|
NM_000070.3(CAPN3):c.973A>T (p.Arg325Ter)
|
rs2053589887
|
|
NM_000070.3(CAPN3):c.981C>T (p.Ala327=)
|
rs2141176870
|
|
NM_000070.3(CAPN3):c.982T>C (p.Cys328Arg)
|
|
|
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg)
|
rs1085307995
|
|
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)
|
rs1085307995
|
|
NM_000070.3(CAPN3):c.987G>T (p.Gly329=)
|
rs2141176899
|
|
NM_000070.3(CAPN3):c.988C>T (p.Leu330=)
|
|
|
NM_000070.3(CAPN3):c.993C>T (p.Val331=)
|
|
|
NM_000070.3:g.(42408325_42409302)_(42412214_?)del
|
|
|