ClinVar Miner

List of variants in gene CAPN3 studied for not provided

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 598
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.*134C>T rs3098423 0.97772
NM_000070.3(CAPN3):c.1116-226A>G rs3115877 0.93299
NM_000070.3(CAPN3):c.1992+110T>C rs3115883 0.77192
NM_000070.3(CAPN3):c.1783-893C>G rs2412711 0.76804
NM_000070.3(CAPN3):c.1537-48T>C rs2241827 0.76381
NM_000070.3(CAPN3):c.1915-298G>C rs3115882 0.61918
NM_000070.3(CAPN3):c.2381-79T>C rs3115884 0.44779
NM_000070.3(CAPN3):c.1782+183A>T rs7163986 0.27085
NM_000070.3(CAPN3):c.499-162T>C rs751572 0.24211
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000070.3(CAPN3):c.633-216C>T rs28364416 0.22506
NM_000070.3(CAPN3):c.310-244G>A rs28364388 0.15999
NM_000070.3(CAPN3):c.946-157C>G rs12324205 0.14423
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_000070.2(CAPN3):c.-408T>C rs16973174 0.09025
NM_000070.3(CAPN3):c.1193+163A>G rs3803342 0.07230
NM_000070.3(CAPN3):c.1746-221G>C rs28364498 0.07208
NM_000070.3(CAPN3):c.1783-59C>T rs28364508 0.07152
NM_000070.3(CAPN3):c.1800+143G>A rs28364509 0.06817
NM_000070.3(CAPN3):c.632+263A>G rs7174880 0.05652
NM_000070.3(CAPN3):c.1801-288G>C rs28364526 0.05301
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_000070.3(CAPN3):c.1536+133T>C rs28364491 0.05284
NM_000070.3(CAPN3):c.1914+30G>A rs2289293 0.05262
NM_000070.3(CAPN3):c.2381-114C>G rs28364541 0.05189
NM_000070.3(CAPN3):c.2381-132G>C rs28364540 0.05189
NM_000070.3(CAPN3):c.2439+69C>T rs28364544 0.05187
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_000070.3(CAPN3):c.1801-188A>G rs16952474 0.03802
NM_000070.3(CAPN3):c.1746-64C>T rs17764849 0.03691
NM_000070.3(CAPN3):c.1193+243C>T rs28364469 0.03345
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_000070.3(CAPN3):c.1116-116C>G rs16973233 0.03217
NM_000070.3(CAPN3):c.945+56C>T rs28364427 0.03098
NC_000015.10:g.42359484A>C rs28364363 0.03023
NM_000070.3(CAPN3):c.1915-98C>T rs28364532 0.02537
NM_000070.3(CAPN3):c.1783-63C>G rs28364507 0.02418
NM_000070.3(CAPN3):c.633-138C>T rs28364417 0.02383
NM_000070.3(CAPN3):c.802-120A>T rs28364426 0.02205
NM_000070.3(CAPN3):c.1536+263C>A rs28364493 0.02193
NM_000070.3(CAPN3):c.1800+150C>T rs28364510 0.02178
NM_000070.3(CAPN3):c.1354+61C>T rs28364474 0.01854
NM_000070.3(CAPN3):c.2116-186T>C rs28364534 0.01838
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519 0.01774
NM_000070.3(CAPN3):c.1536+235C>T rs28364492 0.01755
NM_000070.3(CAPN3):c.1992+42C>G rs8028539 0.01606
NM_000070.3(CAPN3):c.1029+198C>T rs28364443 0.01597
NM_000070.3(CAPN3):c.1030-164del rs201181640 0.01467
NM_000070.3(CAPN3):c.1915-127C>T rs28364531 0.01403
NM_000070.3(CAPN3):c.-104G>C rs149698681 0.01241
NM_000070.2(CAPN3):c.-614C>T rs28364362 0.01193
NM_000070.2(CAPN3):c.-641A>G rs28364361 0.01193
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.946-187G>A rs28364440 0.01142
NM_000070.3(CAPN3):c.1524+81C>T rs28364486 0.01086
NM_000070.3(CAPN3):c.2051-29C>T rs146599748 0.01058
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_000070.3(CAPN3):c.2050+31T>G rs572946490 0.01000
NM_000070.3(CAPN3):c.310-44A>G rs111276174 0.00969
NM_000070.3(CAPN3):c.2050+26T>G rs748546059 0.00929
NM_000070.3(CAPN3):c.309+32T>C rs576780026 0.00923
NM_000070.3(CAPN3):c.309+30_309+31insG rs377626958 0.00922
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.802-270G>A rs115311588 0.00803
NM_000070.3(CAPN3):c.1782+801C>T rs147193629 0.00800
NM_000070.3(CAPN3):c.309+232A>G rs28364368 0.00793
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.318C>T (p.Cys106=) rs117609395 0.00495
NM_000070.3(CAPN3):c.2439+151C>T rs114130651 0.00455
NM_000070.3(CAPN3):c.1194-45C>T rs3743004 0.00414
NM_000070.3(CAPN3):c.1537-33G>A rs143412460 0.00363
NM_000070.3(CAPN3):c.1914+310G>A rs28364529 0.00333
NM_000070.3(CAPN3):c.2264-97C>T rs142261118 0.00324
NM_000070.3(CAPN3):c.1782+223A>G rs141693768 0.00321
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_000070.3(CAPN3):c.1915-35C>A rs180926729 0.00315
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.1525-35del rs28364489 0.00243
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.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.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.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.2071G>A (p.Gly691Arg) rs140425651 0.00013
NM_000070.3(CAPN3):c.897C>A (p.Leu299=) rs370313391 0.00013
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.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.2363G>T (p.Arg788Met) rs769208910 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.2429A>G (p.Asn810Ser) rs200485658 0.00007
NM_000070.3(CAPN3):c.41C>T (p.Ala14Val) rs771263688 0.00007
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.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.1783-5T>C rs780680647 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.308C>T (p.Pro103Leu) rs148538711 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.1437C>T (p.Ser479=) rs147914333 0.00005
NM_000070.3(CAPN3):c.2050C>T (p.His684Tyr) rs201566716 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.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1292T>C (p.Val431Ala) rs199625801 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.2040C>T (p.Val680=) rs200583904 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.2359G>A (p.Val787Ile) rs755736723 0.00004
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000070.3(CAPN3):c.309+12C>T rs200773265 0.00004
NM_000070.3(CAPN3):c.349A>C (p.Asn117His) rs1011699008 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.1077G>A (p.Pro359=) rs759384108 0.00003
NM_000070.3(CAPN3):c.1290A>G (p.Thr430=) rs757482856 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.1869G>C (p.Glu623Asp) rs1391429681 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.2236G>A (p.Glu746Lys) rs752155690 0.00003
NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp) rs764247865 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000070.3(CAPN3):c.905C>T (p.Ser302Leu) rs1223779045 0.00003
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058 0.00003
NM_000070.3(CAPN3):c.1157G>A (p.Arg386His) rs376273996 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.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.2310C>T (p.Tyr770=) rs780810538 0.00002
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup) rs753836989 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.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000070.3(CAPN3):c.648C>T (p.Tyr216=) rs138846390 0.00002
NM_000070.3(CAPN3):c.801+8_801+9del rs764551615 0.00002
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.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.1092G>T (p.Glu364Asp) rs2053635682 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.1148A>G (p.Glu383Gly) rs886043889 0.00001
NM_000070.3(CAPN3):c.1187A>G (p.Glu396Gly) rs752046508 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.1257T>G (p.Asp419Glu) rs139836397 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.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.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.1584C>T (p.Asn528=) rs530529988 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.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.1650T>C (p.Pro550=) rs766405190 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.1715G>A (p.Arg572Gln) rs121434544 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.1914+10C>T rs886042479 0.00001
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=) rs79440238 0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207 0.00001
NM_000070.3(CAPN3):c.2061G>A (p.Leu687=) rs1566984937 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.2182C>T (p.Gln728Ter) rs2054180829 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.2219G>A (p.Gly740Asp) rs750162858 0.00001
NM_000070.3(CAPN3):c.2224A>G (p.Ile742Val) rs764798491 0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132 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.2282A>C (p.Gln761Pro) rs373995517 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.2384C>G (p.Ala795Gly) rs762967335 0.00001
NM_000070.3(CAPN3):c.2431G>A (p.Val811Ile) rs200516941 0.00001
NM_000070.3(CAPN3):c.2440-3C>G rs761757153 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.288G>T (p.Gln96His) rs374708755 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.371G>C (p.Gly124Ala) rs587780291 0.00001
NM_000070.3(CAPN3):c.379+3A>G rs1164215001 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.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.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.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.797T>C (p.Ile266Thr) rs761142449 0.00001
NM_000070.3(CAPN3):c.7A>G (p.Thr3Ala) rs761238719 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.853dup (p.Glu285fs) rs761257703 0.00001
NM_000070.3(CAPN3):c.866G>A (p.Arg289Gln) rs775084606 0.00001
NM_000070.3(CAPN3):c.946-29del rs1595826640 0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547 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
GRCh37/hg19 15q15.1(chr15:42684837-42686539)x1
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1001_1002insGA (p.His334fs)
NM_000070.3(CAPN3):c.1003G>T (p.Ala335Ser)
NM_000070.3(CAPN3):c.1007A>G (p.Tyr336Cys) rs1566977107
NM_000070.3(CAPN3):c.100G>C (p.Ala34Pro)
NM_000070.3(CAPN3):c.1012G>C (p.Val338Leu) rs771608215
NM_000070.3(CAPN3):c.1030-104G>A rs28364454
NM_000070.3(CAPN3):c.1043del (p.Gly348fs) rs781013226
NM_000070.3(CAPN3):c.1053del (p.Lys352fs) rs1595828589
NM_000070.3(CAPN3):c.1072A>G (p.Asn358Asp) rs79036902
NM_000070.3(CAPN3):c.1073A>G (p.Asn358Ser) rs886042476
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.1082G>A (p.Gly361Asp) rs886043290
NM_000070.3(CAPN3):c.1088T>A (p.Val363Glu)
NM_000070.3(CAPN3):c.1099delinsAACAAGAACCGTT (p.Gly367delinsAsnLysAsnArgCys)
NM_000070.3(CAPN3):c.1115+181C>A rs28364457
NM_000070.3(CAPN3):c.1115+2T>C rs1057524468
NM_000070.3(CAPN3):c.1115+5G>C rs886039597
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.1126T>G (p.Trp376Gly) rs1064794448
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter) rs1555421524
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
NM_000070.3(CAPN3):c.1193G>C (p.Trp398Ser) rs886042537
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.1246C>T (p.Leu416Phe) rs1334589276
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=) rs151090625
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1267T>C (p.Ser423Pro) rs1555421851
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs) rs1293496023
NM_000070.3(CAPN3):c.1307G>T (p.Gly436Val) rs2141193879
NM_000070.3(CAPN3):c.1322del (p.Gly441fs) rs1555421871
NM_000070.3(CAPN3):c.1325G>A (p.Cys442Tyr) rs886042272
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro) rs1595834751
NM_000070.3(CAPN3):c.1331delinsTCGTACCCAG (p.Ala444delinsValValProSer) rs1566979504
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.1336G>A (p.Gly446Ser) rs886042857
NM_000070.3(CAPN3):c.1345A>C (p.Asn449His) rs886043144
NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)
NM_000070.3(CAPN3):c.1353A>C (p.Pro451=) rs886044507
NM_000070.3(CAPN3):c.1354+96G>A rs3743002
NM_000070.3(CAPN3):c.1354G>T (p.Asp452Tyr) rs727503838
NM_000070.3(CAPN3):c.1355-154del rs35924291
NM_000070.3(CAPN3):c.1355-155_1355-154del rs35924291
NM_000070.3(CAPN3):c.1355-155_1355-154insTC rs3036710
NM_000070.3(CAPN3):c.1355-156C>T rs28364482
NM_000070.3(CAPN3):c.1355-156_1355-155insT rs531854862
NM_000070.3(CAPN3):c.1355-165C>G rs559361869
NM_000070.3(CAPN3):c.1355-166C>G rs74919029
NM_000070.3(CAPN3):c.1411C>T (p.Pro471Ser)
NM_000070.3(CAPN3):c.1439T>A (p.Phe480Tyr) rs1555422111
NM_000070.3(CAPN3):c.1442T>C (p.Leu481Pro) rs886043175
NM_000070.3(CAPN3):c.1444G>A (p.Val482Met) rs1566980383
NM_000070.3(CAPN3):c.1469delinsTC (p.Arg490fs) rs2141199752
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly) rs557164942
NM_000070.3(CAPN3):c.1484T>C (p.Leu495Pro) rs886043921
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.1495C>G (p.Leu499Val) rs1595837194
NM_000070.3(CAPN3):c.1504_1505del (p.Ile502fs) rs2141199913
NM_000070.3(CAPN3):c.1513G>C (p.Ala505Pro) rs1555422133
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.1524+2T>C rs1555422145
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1536+9G>A rs1196127556
NM_000070.3(CAPN3):c.1537-29A>T
NM_000070.3(CAPN3):c.1550A>G (p.Lys517Arg)
NM_000070.3(CAPN3):c.1588T>C (p.Ser530Pro) rs757016558
NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly) rs142004418
NM_000070.3(CAPN3):c.1631C>T (p.Ser544Phe)
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.1662C>G (p.Tyr554Ter) rs752848213
NM_000070.3(CAPN3):c.1664T>A (p.Val555Asp) rs2141203159
NM_000070.3(CAPN3):c.1675T>C (p.Ser559Pro) rs1595838688
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.1702G>C (p.Glu568Gln) rs763183871
NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser) rs886044483
NM_000070.3(CAPN3):c.1708_1719del (p.Ile570_Val573del) rs886043165
NM_000070.3(CAPN3):c.1711C>G (p.Leu571Val)
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.1722del (p.Ser575fs) rs1366387924
NM_000070.3(CAPN3):c.1729_1730del (p.Lys577fs)
NM_000070.3(CAPN3):c.172G>A (p.Glu58Lys) rs750022600
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs) rs886042573
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000070.3(CAPN3):c.1745+5G>C rs886042903
NM_000070.3(CAPN3):c.1746-189G>A rs28364499
NM_000070.3(CAPN3):c.1763T>C (p.Ile588Thr) rs1555422386
NM_000070.3(CAPN3):c.1771del (p.Asp591fs) rs754761503
NM_000070.3(CAPN3):c.1782+263_1782+264insAGAG rs111814065
NM_000070.3(CAPN3):c.1782+306G>T rs138407929
NM_000070.3(CAPN3):c.1782+3G>A
NM_000070.3(CAPN3):c.1782+5G>A rs886043173
NM_000070.3(CAPN3):c.1783-781G>A rs28364503
NM_000070.3(CAPN3):c.1783-989A>C rs28364501
NM_000070.3(CAPN3):c.1783-9C>T rs1555422573
NM_000070.3(CAPN3):c.1795A>G (p.Thr599Ala) rs1555422576
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1800G>A (p.Lys600=)
NM_000070.3(CAPN3):c.1801-304dup rs367758932
NM_000070.3(CAPN3):c.1801-306_1801-304del rs367758932
NM_000070.3(CAPN3):c.1807A>G (p.Ile603Val)
NM_000070.3(CAPN3):c.1813G>C (p.Val605Leu) rs200759807
NM_000070.3(CAPN3):c.1814T>G (p.Val605Gly)
NM_000070.3(CAPN3):c.1838del (p.Lys613fs) rs1555422832
NM_000070.3(CAPN3):c.1844T>A (p.Leu615Gln)
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter) rs1566983844
NM_000070.3(CAPN3):c.1863dup (p.Glu622fs) rs886044417
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs) rs2054085839
NM_000070.3(CAPN3):c.1867G>A (p.Glu623Lys)
NM_000070.3(CAPN3):c.1881A>G (p.Lys627=)
NM_000070.3(CAPN3):c.1894A>T (p.Lys632Ter)
NM_000070.3(CAPN3):c.1914_1914+18del rs1555422851
NM_000070.3(CAPN3):c.1927A>C (p.Ser643Arg)
NM_000070.3(CAPN3):c.1942A>G (p.Ser648Gly)
NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter) rs777636094
NM_000070.3(CAPN3):c.1957C>T (p.Gln653Ter) rs886042927
NM_000070.3(CAPN3):c.1988G>A (p.Gly663Glu)
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.1992+2T>A rs775217052
NM_000070.3(CAPN3):c.1993-5C>T rs1566984719
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs) rs886044004
NM_000070.3(CAPN3):c.19G>C (p.Ala7Pro) rs776827432
NM_000070.3(CAPN3):c.2014G>T (p.Glu672Ter)
NM_000070.3(CAPN3):c.2033A>T (p.Asn678Ile)
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs) rs886042418
NM_000070.3(CAPN3):c.2042T>C (p.Val681Ala) rs750373128
NM_000070.3(CAPN3):c.2050+1G>A rs768374736
NM_000070.3(CAPN3):c.2050+1del rs1555423027
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2051-3C>A rs201294691
NM_000070.3(CAPN3):c.2051-3C>G rs201294691
NM_000070.3(CAPN3):c.2080C>G (p.Leu694Val) rs2054156832
NM_000070.3(CAPN3):c.2092dup (p.Arg698fs)
NM_000070.3(CAPN3):c.2099T>A (p.Met700Lys)
NM_000070.3(CAPN3):c.2115+2T>C rs1555423060
NM_000070.3(CAPN3):c.2116-105G>C rs28364536
NM_000070.3(CAPN3):c.2116-181C>T rs28364535
NM_000070.3(CAPN3):c.2116-9_2116-6del
NM_000070.3(CAPN3):c.2119G>C (p.Asp707His) rs886044427
NM_000070.3(CAPN3):c.2125T>C (p.Ser709Pro) rs886043484
NM_000070.3(CAPN3):c.212_214delinsGG (p.Lys71fs) rs2141102654
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) rs794727318
NM_000070.3(CAPN3):c.2138A>C (p.Asn713Thr) rs886044264
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2150T>C (p.Phe717Ser) rs999378228
NM_000070.3(CAPN3):c.2152C>T (p.His718Tyr)
NM_000070.3(CAPN3):c.2156A>C (p.His719Pro)
NM_000070.3(CAPN3):c.2177C>T (p.Ala726Val) rs2141223812
NM_000070.3(CAPN3):c.2179del (p.Trp727fs) rs886042964
NM_000070.3(CAPN3):c.2185-5_2190dup rs398123144
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.2215T>C (p.Ser739Pro) rs2141224306
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.2238G>T (p.Glu746Asp) rs1555423160
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs) rs398123146
NM_000070.3(CAPN3):c.224A>G (p.Tyr75Cys) rs1555417323
NM_000070.3(CAPN3):c.2251_2254dup (p.Asn752fs) rs398123147
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2263+1G>A rs886044475
NM_000070.3(CAPN3):c.2264G>A (p.Gly755Glu)
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2290G>A (p.Asp764Asn)
NM_000070.3(CAPN3):c.2293A>G (p.Ile765Val) rs1555423192
NM_000070.3(CAPN3):c.2293_2294delinsGA (p.Ile765Asp) rs1555423195
NM_000070.3(CAPN3):c.2294T>A (p.Ile765Asn) rs577644038
NM_000070.3(CAPN3):c.2300C>T (p.Thr767Ile)
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2318_2321dup (p.His774fs) rs1457010016
NM_000070.3(CAPN3):c.2327A>G (p.Asn776Ser) rs1085307534
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.2362del (p.Arg788fs)
NM_000070.3(CAPN3):c.2363delinsTCT (p.Arg788fs) rs1555423219
NM_000070.3(CAPN3):c.237del (p.Glu79fs) rs760205277
NM_000070.3(CAPN3):c.2381-17T>G rs794727370
NM_000070.3(CAPN3):c.2381-1G>A rs786205491
NM_000070.3(CAPN3):c.2384C>A (p.Ala795Asp)
NM_000070.3(CAPN3):c.238T>G (p.Phe80Val)
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.2416_2417dup (p.Ile807fs) rs1131691320
NM_000070.3(CAPN3):c.2440-2A>G rs769688710
NM_000070.3(CAPN3):c.2440-47G>T rs201396957
NM_000070.3(CAPN3):c.2440-50_2440-49insC rs200202467
NM_000070.3(CAPN3):c.2440-6_2440-3del rs1555423426
NM_000070.3(CAPN3):c.2462C>T (p.Ala821Val) rs398123148
NM_000070.3(CAPN3):c.259_262del (p.Leu87fs) rs763649825
NM_000070.3(CAPN3):c.305C>T (p.Pro102Leu) rs886042315
NM_000070.3(CAPN3):c.309+267_309+268dup rs397962506
NM_000070.3(CAPN3):c.309+268del rs397962506
NM_000070.3(CAPN3):c.309+268dup rs397962506
NM_000070.3(CAPN3):c.309+4A>C rs1566966120
NM_000070.3(CAPN3):c.310G>T (p.Glu104Ter) rs786205490
NM_000070.3(CAPN3):c.319G>T (p.Glu107Ter) rs1801505
NM_000070.3(CAPN3):c.322_334dup (p.Ile112fs) rs1555420075
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.331T>A (p.Phe111Ile) rs1555420077
NM_000070.3(CAPN3):c.349A>G (p.Asn117Asp)
NM_000070.3(CAPN3):c.360C>A (p.Asp120Glu) rs886043027
NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys) rs886043437
NM_000070.3(CAPN3):c.368_370del (p.Gln123_Gly124delinsArg) rs2141155690
NM_000070.3(CAPN3):c.372A>T (p.Gly124=) rs886044048
NM_000070.3(CAPN3):c.379+216G>C rs28364389
NM_000070.3(CAPN3):c.379+5G>T rs886042704
NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys) rs772580081
NM_000070.3(CAPN3):c.499-28T>G
NM_000070.3(CAPN3):c.499-4G>C rs1595821174
NM_000070.3(CAPN3):c.49C>T (p.Pro17Ser)
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser) rs886042296
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
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>A (p.Ile178Lys) rs794727615
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr) rs794727615
NM_000070.3(CAPN3):c.534A>G (p.Ile178Met) rs886042965
NM_000070.3(CAPN3):c.536A>G (p.Asp179Gly) rs886043429
NM_000070.3(CAPN3):c.544C>G (p.Leu182Val) rs1555420484
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.553T>G (p.Tyr185Asp) rs1566975069
NM_000070.3(CAPN3):c.560A>G (p.Asn187Ser)
NM_000070.3(CAPN3):c.562del (p.Gln188fs) rs1566975090
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.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.600C>G (p.Phe200Leu)
NM_000070.3(CAPN3):c.60del (p.Pro22fs) rs1566965857
NM_000070.3(CAPN3):c.610C>G (p.Leu204Val)
NM_000070.3(CAPN3):c.616del (p.Glu206fs) rs2053446296
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.632+1G>A rs2053447095
NM_000070.3(CAPN3):c.632+217T>A rs28364410
NM_000070.3(CAPN3):c.639dup (p.Gly214fs) rs886043222
NM_000070.3(CAPN3):c.644C>T (p.Ser215Phe) rs1566975550
NM_000070.3(CAPN3):c.652G>C (p.Ala218Pro) rs1555420621
NM_000070.3(CAPN3):c.680C>T (p.Ala227Val) rs1566975567
NM_000070.3(CAPN3):c.683T>C (p.Met228Thr)
NM_000070.3(CAPN3):c.694A>C (p.Thr232Pro) rs886044405
NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg) rs886042440
NM_000070.3(CAPN3):c.700G>T (p.Gly234Trp) rs886042440
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.703_704insA (p.Val235fs) rs2141167851
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.717dup (p.Glu240Ter) rs776059672
NM_000070.3(CAPN3):c.720dup (p.Ile241fs) rs1555420639
NM_000070.3(CAPN3):c.742A>G (p.Met248Val)
NM_000070.3(CAPN3):c.742_743del (p.Met248fs) rs1064793620
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.763G>A (p.Ala255Thr) rs886043047
NM_000070.3(CAPN3):c.768C>T (p.Ile256=) rs748032310
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.788G>A (p.Gly263Asp) rs886042588
NM_000070.3(CAPN3):c.794C>T (p.Ser265Phe) rs886043166
NM_000070.3(CAPN3):c.801+1G>A rs1459288402
NM_000070.3(CAPN3):c.802-221G>A rs2412709
NM_000070.3(CAPN3):c.815T>C (p.Met272Thr)
NM_000070.3(CAPN3):c.839G>T (p.Gly280Val)
NM_000070.3(CAPN3):c.844A>T (p.Asn282Tyr) rs886044104
NM_000070.3(CAPN3):c.855_864dup (p.Arg289fs) rs398123150
NM_000070.3(CAPN3):c.856T>G (p.Leu286Val)
NM_000070.3(CAPN3):c.859A>C (p.Ile287Leu) rs1595823793
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.87C>G (p.Ser29Arg) rs1296837467
NM_000070.3(CAPN3):c.883G>C (p.Asp295His) rs1566976062
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966
NM_000070.3(CAPN3):c.884A>T (p.Asp295Val) rs765291508
NM_000070.3(CAPN3):c.898C>T (p.Gln300Ter) rs2141170517
NM_000070.3(CAPN3):c.922G>C (p.Gly308Arg)
NM_000070.3(CAPN3):c.946-1_948del rs766156798
NM_000070.3(CAPN3):c.946-2A>G rs1595826673
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.985G>A (p.Gly329Arg) rs1085307995
NM_024344.1:c.2362_2363delinsTCATCT
Single allele

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