ClinVar Miner

List of variants reported as uncertain significance for arrhythmogenic right ventricular cardiomyopathy by Invitae

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6863
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) rs146333579 0.00076
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys) rs181571822 0.00044
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val) rs374355537 0.00041
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_006073.4(TRDN):c.71T>A (p.Val24Glu) rs201097255 0.00034
NM_013266.4(CTNNA3):c.2524C>T (p.Arg842Trp) rs199852825 0.00034
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp) rs148824162 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_013266.4(CTNNA3):c.880G>A (p.Glu294Lys) rs146475470 0.00031
NM_006073.4(TRDN):c.1811C>T (p.Thr604Ile) rs763939252 0.00028
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala) rs144651139 0.00026
NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser) rs776091285 0.00026
NM_006073.4(TRDN):c.2187G>T (p.Gln729His) rs373439044 0.00026
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) rs28730713 0.00024
NM_013266.4(CTNNA3):c.155C>T (p.Ser52Leu) rs139105272 0.00024
NM_001005242.3(PKP2):c.1379-2025G>A rs537458442 0.00023
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_001035.3(RYR2):c.2613+4C>G rs371880082 0.00021
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln) rs143535006 0.00021
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_013266.4(CTNNA3):c.1574T>C (p.Leu525Ser) rs369650158 0.00020
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_006073.4(TRDN):c.1537+1G>A rs189125299 0.00019
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val) rs367990772 0.00018
NM_001005242.3(PKP2):c.928G>A (p.Val310Met) rs768396351 0.00017
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg) rs200953683 0.00017
NM_024334.3(TMEM43):c.361A>G (p.Met121Val) rs369878538 0.00017
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met) rs143038626 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys) rs1193520667 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010 0.00016
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter) rs202219343 0.00016
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg) rs763469367 0.00016
NM_013266.4(CTNNA3):c.1421C>T (p.Ala474Val) rs201810511 0.00016
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_001005242.3(PKP2):c.805G>A (p.Gly269Arg) rs757285245 0.00015
NM_001035.3(RYR2):c.6022+5G>A rs376389213 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_013266.4(CTNNA3):c.457G>C (p.Ala153Pro) rs147116577 0.00015
NM_001005242.3(PKP2):c.1379-2006C>T rs1460366599 0.00014
NM_001035.3(RYR2):c.1476+4C>T rs369442980 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226 0.00014
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) rs199842209 0.00014
NM_013266.4(CTNNA3):c.2066C>T (p.Ala689Val) rs150734357 0.00014
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr) rs369142200 0.00014
NM_001005242.3(PKP2):c.1379-2018G>A rs369518480 0.00013
NM_001943.5(DSG2):c.148G>A (p.Ala50Thr) rs1267795586 0.00013
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr) rs375358300 0.00013
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832 0.00013
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971 0.00013
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys) rs9398723 0.00013
NM_006073.4(TRDN):c.591A>C (p.Glu197Asp) rs751143632 0.00013
NM_013266.4(CTNNA3):c.2501G>T (p.Arg834Leu) rs373081692 0.00013
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) rs373201722 0.00013
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile) rs376102257 0.00012
NM_001005242.3(PKP2):c.682G>A (p.Asp228Asn) rs143954425 0.00012
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser) rs777365708 0.00012
NM_013266.4(CTNNA3):c.832G>A (p.Asp278Asn) rs143693772 0.00012
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) rs370219248 0.00011
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile) rs368633311 0.00011
NM_001035.3(RYR2):c.6793-3C>T rs372314209 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) rs369868954 0.00011
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val) rs767979763 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_006073.4(TRDN):c.365A>G (p.Asp122Gly) rs749353413 0.00011
NM_013266.4(CTNNA3):c.1231A>G (p.Ile411Val) rs372808360 0.00011
NM_013266.4(CTNNA3):c.1303A>G (p.Met435Val) rs377404952 0.00011
NM_013266.4(CTNNA3):c.1628G>A (p.Arg543Gln) rs369033938 0.00011
NM_013266.4(CTNNA3):c.2006A>T (p.Glu669Val) rs377166040 0.00011
NM_013266.4(CTNNA3):c.578A>G (p.Gln193Arg) rs373233387 0.00011
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys) rs754536393 0.00011
NM_001035.3(RYR2):c.2357G>A (p.Gly786Asp) rs182778119 0.00010
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_001035.3(RYR2):c.8590+4A>G rs778964264 0.00010
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr) rs375482798 0.00010
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_002230.4(JUP):c.1565C>T (p.Ala522Val) rs1060502679 0.00010
NM_002230.4(JUP):c.608G>A (p.Arg203His) rs200221163 0.00010
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359 0.00010
NM_006073.4(TRDN):c.125C>T (p.Thr42Met) rs371627659 0.00010
NM_006073.4(TRDN):c.1951+6C>A rs781510666 0.00010
NM_006073.4(TRDN):c.2093A>G (p.Asn698Ser) rs377368177 0.00010
NM_013266.4(CTNNA3):c.1219C>T (p.Arg407Trp) rs138643733 0.00010
NM_013266.4(CTNNA3):c.2211G>C (p.Met737Ile) rs192848934 0.00010
NM_013266.4(CTNNA3):c.2482G>A (p.Ala828Thr) rs753950562 0.00010
NM_013266.4(CTNNA3):c.2550G>A (p.Met850Ile) rs138237676 0.00010
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr) rs756304120 0.00010
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser) rs373665895 0.00009
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135 0.00009
NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala) rs539021736 0.00009
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met) rs769219555 0.00009
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe) rs771298193 0.00009
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile) rs773237428 0.00009
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn) rs376147306 0.00009
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) rs727504770 0.00009
NM_001943.5(DSG2):c.379-3C>T rs376556524 0.00009
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr) rs139559495 0.00009
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777 0.00009
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864 0.00009
NM_004415.4(DSP):c.424C>T (p.Leu142Phe) rs373769397 0.00009
NM_006073.4(TRDN):c.1808G>C (p.Gly603Ala) rs766406818 0.00009
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala) rs376208769 0.00009
NM_006073.4(TRDN):c.884C>T (p.Pro295Leu) rs201899630 0.00009
NM_013266.4(CTNNA3):c.1175C>T (p.Thr392Met) rs146777494 0.00009
NM_013266.4(CTNNA3):c.1507A>C (p.Ile503Leu) rs147802834 0.00009
NM_013266.4(CTNNA3):c.1604G>A (p.Arg535His) rs139378888 0.00009
NM_013266.4(CTNNA3):c.1790C>T (p.Ser597Leu) rs780346090 0.00009
NM_013266.4(CTNNA3):c.1979C>T (p.Ala660Val) rs778640435 0.00009
NM_013266.4(CTNNA3):c.448C>T (p.His150Tyr) rs368622093 0.00009
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578 0.00009
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg) rs730880226 0.00009
NM_024422.6(DSC2):c.1802A>C (p.Glu601Ala) rs537381028 0.00009
NM_024422.6(DSC2):c.23G>T (p.Gly8Val) rs794728063 0.00009
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) rs139979318 0.00009
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val) rs139924723 0.00008
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr) rs375021201 0.00008
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr) rs371878264 0.00008
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln) rs752144775 0.00008
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile) rs371086868 0.00008
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val) rs767258350 0.00008
NM_001232.4(CASQ2):c.1015-3C>T rs375320117 0.00008
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys) rs151115064 0.00008
NM_001232.4(CASQ2):c.758G>A (p.Arg253His) rs199571249 0.00008
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn) rs368165922 0.00008
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_002230.4(JUP):c.809T>A (p.Leu270Gln) rs794729040 0.00008
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu) rs200706450 0.00008
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr) rs199714872 0.00008
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) rs762556795 0.00008
NM_024422.6(DSC2):c.596G>A (p.Arg199His) rs374707462 0.00008
NM_001005242.3(PKP2):c.2360A>G (p.Tyr787Cys) rs200411128 0.00007
NM_001035.3(RYR2):c.13329-3T>C rs542440592 0.00007
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala) rs376612295 0.00007
NM_001035.3(RYR2):c.2104G>A (p.Gly702Arg) rs569386030 0.00007
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His) rs373600053 0.00007
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys) rs375598471 0.00007
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) rs148057999 0.00007
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile) rs769137357 0.00007
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653 0.00007
NM_002230.4(JUP):c.356C>T (p.Pro119Leu) rs376123010 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_002230.4(JUP):c.529C>T (p.Arg177Trp) rs148484473 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_006073.4(TRDN):c.1063G>T (p.Ala355Ser) rs776657049 0.00007
NM_006073.4(TRDN):c.1187-3C>T rs375421435 0.00007
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala) rs376214235 0.00007
NM_013266.4(CTNNA3):c.1691C>T (p.Thr564Met) rs538149393 0.00007
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn) rs772334698 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr) rs201487421 0.00006
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631 0.00006
NM_001005242.3(PKP2):c.985A>C (p.Ser329Arg) rs779173447 0.00006
NM_001035.3(RYR2):c.10725+4A>T rs116444428 0.00006
NM_001035.3(RYR2):c.10838+4G>A rs776923037 0.00006
NM_001035.3(RYR2):c.11974A>C (p.Asn3992His) rs781352451 0.00006
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu) rs397516522 0.00006
NM_001035.3(RYR2):c.3164G>A (p.Arg1055His) rs757490010 0.00006
NM_001035.3(RYR2):c.3266G>A (p.Arg1089His) rs552564367 0.00006
NM_001035.3(RYR2):c.4596+4C>T rs397516532 0.00006
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492 0.00006
NM_001035.3(RYR2):c.6440+6T>C rs775678664 0.00006
NM_001035.3(RYR2):c.7697G>A (p.Arg2566Gln) rs532016557 0.00006
NM_001035.3(RYR2):c.76G>A (p.Ala26Thr) rs368974917 0.00006
NM_001035.3(RYR2):c.7815G>A (p.Met2605Ile) rs1244019330 0.00006
NM_001035.3(RYR2):c.8437-3T>C rs924080705 0.00006
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln) rs369276868 0.00006
NM_001232.4(CASQ2):c.1121A>G (p.Asp374Gly) rs886045158 0.00006
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly) rs397516640 0.00006
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751 0.00006
NM_001943.5(DSG2):c.1949C>T (p.Thr650Ile) rs373512167 0.00006
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397 0.00006
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe) rs199926617 0.00006
NM_001943.5(DSG2):c.98A>G (p.Asn33Ser) rs727505205 0.00006
NM_002230.4(JUP):c.109G>A (p.Val37Ile) rs150769772 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 0.00006
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) rs782439900 0.00006
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933 0.00006
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312 0.00006
NM_002230.4(JUP):c.778G>A (p.Ala260Thr) rs149623442 0.00006
NM_006073.4(TRDN):c.1105G>A (p.Ala369Thr) rs369198088 0.00006
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val) rs202040879 0.00006
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser) rs576028226 0.00006
NM_006073.4(TRDN):c.797A>G (p.Gln266Arg) rs200068375 0.00006
NM_013266.4(CTNNA3):c.1120C>T (p.Arg374Cys) rs370981751 0.00006
NM_013266.4(CTNNA3):c.1651G>A (p.Val551Ile) rs750835711 0.00006
NM_013266.4(CTNNA3):c.796C>T (p.Pro266Ser) rs199985402 0.00006
NM_024334.3(TMEM43):c.214G>A (p.Val72Met) rs368603914 0.00006
NM_024334.3(TMEM43):c.53A>G (p.Lys18Arg) rs1214893591 0.00006
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu) rs140380494 0.00006
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln) rs193922707 0.00006
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478 0.00006
NM_024422.6(DSC2):c.1264-18A>G rs374946259 0.00006
NM_024422.6(DSC2):c.1291A>G (p.Met431Val) rs377287621 0.00006
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met) rs759513934 0.00006
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) rs765067237 0.00006
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe) rs141873745 0.00006
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu) rs141379407 0.00006
NM_001005242.3(PKP2):c.1379-2072C>T rs758950276 0.00005
NM_001005242.3(PKP2):c.1451C>T (p.Thr484Met) rs774942476 0.00005
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp) rs767935208 0.00005
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195 0.00005
NM_001005242.3(PKP2):c.899C>A (p.Thr300Lys) rs553098424 0.00005
NM_001005242.3(PKP2):c.974C>T (p.Ala325Val) rs201803918 0.00005
NM_001035.3(RYR2):c.11206G>A (p.Ala3736Thr) rs375095599 0.00005
NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser) rs2009813 0.00005
NM_001035.3(RYR2):c.2039A>G (p.Asp680Gly) rs758835308 0.00005
NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile) rs749618476 0.00005
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu) rs377368967 0.00005
NM_001035.3(RYR2):c.9251G>A (p.Arg3084Gln) rs747605864 0.00005
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe) rs151168851 0.00005
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val) rs764732977 0.00005
NM_001943.5(DSG2):c.175C>T (p.Arg59Trp) rs749602291 0.00005
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg) rs765793636 0.00005
NM_001943.5(DSG2):c.2341G>T (p.Ala781Ser) rs760402926 0.00005
NM_001943.5(DSG2):c.2471G>A (p.Arg824His) rs376858770 0.00005
NM_001943.5(DSG2):c.2597C>T (p.Ala866Val) rs553730922 0.00005
NM_001943.5(DSG2):c.2897G>C (p.Arg966Thr) rs764925318 0.00005
NM_001943.5(DSG2):c.3095C>T (p.Thr1032Ile) rs775546937 0.00005
NM_001943.5(DSG2):c.862G>A (p.Val288Ile) rs780374242 0.00005
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile) rs201040643 0.00005
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) rs782301706 0.00005
NM_002230.4(JUP):c.1130G>A (p.Arg377His) rs794729044 0.00005
NM_002230.4(JUP):c.2102A>G (p.Tyr701Cys) rs781857012 0.00005
NM_002230.4(JUP):c.412G>A (p.Glu138Lys) rs150245906 0.00005
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314 0.00005
NM_002230.4(JUP):c.989C>A (p.Thr330Asn) rs782145797 0.00005
NM_002230.4(JUP):c.998G>A (p.Arg333His) rs727503099 0.00005
NM_006073.4(TRDN):c.1276A>C (p.Thr426Pro) rs1040336692 0.00005
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala) rs745960330 0.00005
NM_006073.4(TRDN):c.1471+5T>C rs374426512 0.00005
NM_006073.4(TRDN):c.224A>T (p.Asn75Ile) rs368939536 0.00005
NM_006073.4(TRDN):c.484+6C>G rs115773202 0.00005
NM_006073.4(TRDN):c.52G>C (p.Asp18His) rs372554839 0.00005
NM_013266.4(CTNNA3):c.1739C>T (p.Pro580Leu) rs368000502 0.00005
NM_013266.4(CTNNA3):c.377G>A (p.Arg126His) rs730880071 0.00005
NM_013266.4(CTNNA3):c.644C>T (p.Ser215Phe) rs146441824 0.00005
NM_024334.3(TMEM43):c.679C>G (p.His227Asp) rs201460674 0.00005
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385 0.00005
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708 0.00005
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn) rs144401285 0.00004
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln) rs370868564 0.00004
NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln) rs200715477 0.00004
NM_001005242.3(PKP2):c.1379-2022G>A rs111450489 0.00004
NM_001005242.3(PKP2):c.1379-2102C>G rs762631031 0.00004
NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp) rs200343561 0.00004
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr) rs558637427 0.00004
NM_001005242.3(PKP2):c.1825A>G (p.Arg609Gly) rs775103879 0.00004
NM_001005242.3(PKP2):c.1874G>C (p.Ser625Thr) rs779926314 0.00004
NM_001005242.3(PKP2):c.1889T>C (p.Val630Ala) rs751965920 0.00004
NM_001005242.3(PKP2):c.2002G>A (p.Gly668Arg) rs200844640 0.00004
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val) rs143503798 0.00004
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln) rs397517020 0.00004
NM_001005242.3(PKP2):c.2480G>A (p.Arg827Gln) rs372263407 0.00004
NM_001005242.3(PKP2):c.2504T>C (p.Leu835Pro) rs775572104 0.00004
NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys) rs759377911 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001005242.3(PKP2):c.634C>T (p.Arg212Cys) rs766379716 0.00004
NM_001005242.3(PKP2):c.950C>T (p.Ala317Val) rs775318947 0.00004
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met) rs552050895 0.00004
NM_001035.3(RYR2):c.11132T>A (p.Val3711Glu) rs1036775644 0.00004
NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln) rs750908017 0.00004
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly) rs564822776 0.00004
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg) rs775477470 0.00004
NM_001035.3(RYR2):c.12944G>A (p.Gly4315Glu) rs766109950 0.00004
NM_001035.3(RYR2):c.13249G>C (p.Glu4417Gln) rs903232857 0.00004
NM_001035.3(RYR2):c.13254A>T (p.Lys4418Asn) rs934659622 0.00004
NM_001035.3(RYR2):c.1358G>C (p.Ser453Thr) rs761911597 0.00004
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe) rs727504508 0.00004
NM_001035.3(RYR2):c.1838T>C (p.Val613Ala) rs1057512489 0.00004
NM_001035.3(RYR2):c.2521A>G (p.Lys841Glu) rs563091152 0.00004
NM_001035.3(RYR2):c.3025C>T (p.Arg1009Trp) rs368040638 0.00004
NM_001035.3(RYR2):c.309G>A (p.Lys103=) rs532274202 0.00004
NM_001035.3(RYR2):c.3481G>C (p.Val1161Leu) rs372761438 0.00004
NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala) rs773678614 0.00004
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala) rs1005458283 0.00004
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001035.3(RYR2):c.5494G>A (p.Gly1832Ser) rs727504983 0.00004
NM_001035.3(RYR2):c.6299G>A (p.Arg2100Gln) rs796202631 0.00004
NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln) rs727504976 0.00004
NM_001035.3(RYR2):c.7201C>T (p.Arg2401Cys) rs1321283106 0.00004
NM_001035.3(RYR2):c.7459C>A (p.Leu2487Ile) rs748581317 0.00004
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys) rs781113955 0.00004
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640 0.00004
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn) rs397516701 0.00004
NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr) rs368257724 0.00004
NM_001943.5(DSG2):c.1878A>G (p.Leu626=) rs771576658 0.00004
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) rs200804638 0.00004
NM_001943.5(DSG2):c.1903T>C (p.Cys635Arg) rs940804506 0.00004
NM_001943.5(DSG2):c.208A>G (p.Ile70Val) rs769713919 0.00004
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu) rs771104668 0.00004
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly) rs763315024 0.00004
NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg) rs886039190 0.00004
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys) rs727502992 0.00004
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450 0.00004
NM_001943.5(DSG2):c.523+6A>G rs769467654 0.00004
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.115A>G (p.Ser39Gly) rs782211863 0.00004
NM_002230.4(JUP):c.1219G>A (p.Val407Ile) rs370913228 0.00004
NM_002230.4(JUP):c.1280C>T (p.Thr427Met) rs781982717 0.00004
NM_002230.4(JUP):c.1331G>A (p.Arg444His) rs369507567 0.00004
NM_002230.4(JUP):c.1359G>T (p.Glu453Asp) rs376608339 0.00004
NM_002230.4(JUP):c.1486C>A (p.Pro496Thr) rs1220042864 0.00004
NM_002230.4(JUP):c.1550C>T (p.Pro517Leu) rs781988240 0.00004
NM_002230.4(JUP):c.161C>T (p.Thr54Met) rs782529328 0.00004
NM_002230.4(JUP):c.1653G>A (p.Thr551=) rs782044013 0.00004
NM_002230.4(JUP):c.1715G>A (p.Arg572Gln) rs397517298 0.00004
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu) rs781883243 0.00004
NM_002230.4(JUP):c.2104C>T (p.Arg702Cys) rs545547083 0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479 0.00004
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn) rs781804177 0.00004
NM_002230.4(JUP):c.2128C>T (p.Pro710Ser) rs782693565 0.00004
NM_002230.4(JUP):c.257G>A (p.Arg86Gln) rs782341732 0.00004
NM_002230.4(JUP):c.329C>T (p.Ala110Val) rs782770278 0.00004
NM_002230.4(JUP):c.493A>G (p.Ile165Val) rs782461741 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.624C>G (p.Ile208Met) rs566435665 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_004415.4(DSP):c.596G>A (p.Arg199Lys) rs143648545 0.00004
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile) rs1478775642 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_006073.4(TRDN):c.1136-1G>A rs769776218 0.00004
NM_006073.4(TRDN):c.1156C>A (p.Pro386Thr) rs555383967 0.00004
NM_006073.4(TRDN):c.1322-10T>A rs764565579 0.00004
NM_006073.4(TRDN):c.1589C>G (p.Ala530Gly) rs367716594 0.00004
NM_006073.4(TRDN):c.1598-6T>G rs554635684 0.00004
NM_006073.4(TRDN):c.1967G>A (p.Arg656Lys) rs1028703114 0.00004
NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys) rs373408498 0.00004
NM_006073.4(TRDN):c.2132G>A (p.Arg711His) rs763375903 0.00004
NM_006073.4(TRDN):c.2135C>T (p.Pro712Leu) rs761888858 0.00004
NM_006073.4(TRDN):c.2138G>A (p.Gly713Glu) rs536487170 0.00004
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter) rs201041981 0.00004
NM_006073.4(TRDN):c.352G>T (p.Asp118Tyr) rs762075230 0.00004
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys) rs539743603 0.00004
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr) rs777796676 0.00004
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys) rs763851599 0.00004
NM_013266.4(CTNNA3):c.1721T>C (p.Leu574Pro) rs375428912 0.00004
NM_013266.4(CTNNA3):c.1823A>T (p.Asp608Val) rs138314889 0.00004
NM_013266.4(CTNNA3):c.1841A>G (p.Tyr614Cys) rs770893892 0.00004
NM_013266.4(CTNNA3):c.794C>T (p.Pro265Leu) rs151069922 0.00004
NM_013266.4(CTNNA3):c.959C>T (p.Thr320Met) rs139460414 0.00004
NM_013266.4(CTNNA3):c.973C>T (p.Arg325Ter) rs369024617 0.00004
NM_013266.4(CTNNA3):c.980G>A (p.Arg327Gln) rs748583513 0.00004
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887 0.00004
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu) rs376514478 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys) rs201094625 0.00004
NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu) rs369779779 0.00004
NM_024334.3(TMEM43):c.231C>G (p.Ile77Met) rs899266809 0.00004
NM_024334.3(TMEM43):c.310C>G (p.Pro104Ala) rs775872602 0.00004
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg) rs397517384 0.00004
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter) rs1423539317 0.00004
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter) rs147336367 0.00004
NM_024334.3(TMEM43):c.518T>C (p.Met173Thr) rs373023080 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 0.00004
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) rs762055797 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu) rs766828422 0.00004
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys) rs369761766 0.00004
NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys) rs758950880 0.00004
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu) rs202031070 0.00004
NM_024422.6(DSC2):c.286A>G (p.Ile96Val) rs772447450 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr) rs978623916 0.00004
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys) rs1208347768 0.00003
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg) rs763492084 0.00003
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn) rs763427502 0.00003
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val) rs397517002 0.00003
NM_001005242.3(PKP2):c.1679C>T (p.Thr560Met) rs373360192 0.00003
NM_001005242.3(PKP2):c.1796A>G (p.Lys599Arg) rs533659697 0.00003
NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly) rs375295635 0.00003
NM_001005242.3(PKP2):c.1948G>A (p.Val650Ile) rs747525514 0.00003
NM_001005242.3(PKP2):c.1968A>T (p.Glu656Asp) rs879210282 0.00003
NM_001005242.3(PKP2):c.19C>T (p.Pro7Ser) rs764645176 0.00003
NM_001005242.3(PKP2):c.2081T>G (p.Leu694Arg) rs794729115 0.00003
NM_001005242.3(PKP2):c.223G>A (p.Gly75Arg) rs765852160 0.00003
NM_001005242.3(PKP2):c.236G>A (p.Arg79Gln) rs766802880 0.00003
NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg) rs372729739 0.00003
NM_001005242.3(PKP2):c.2405C>T (p.Ser802Phe) rs768808114 0.00003
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu) rs750028032 0.00003
NM_001005242.3(PKP2):c.293T>C (p.Val98Ala) rs775434969 0.00003
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178 0.00003
NM_001035.3(RYR2):c.1092A>C (p.Gln364His) rs763183698 0.00003
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn) rs768711283 0.00003
NM_001035.3(RYR2):c.1154G>C (p.Gly385Ala) rs373148638 0.00003
NM_001035.3(RYR2):c.1165C>T (p.Arg389Cys) rs376135032 0.00003
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) rs374306538 0.00003
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys) rs763004638 0.00003
NM_001035.3(RYR2):c.12658G>A (p.Glu4220Lys) rs753433827 0.00003
NM_001035.3(RYR2):c.1324G>T (p.Ala442Ser) rs747344666 0.00003
NM_001035.3(RYR2):c.13406G>C (p.Arg4469Thr) rs759882217 0.00003
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr) rs189345192 0.00003
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val) rs770408945 0.00003
NM_001035.3(RYR2):c.2203+4C>T rs371445192 0.00003
NM_001035.3(RYR2):c.2617G>A (p.Val873Met) rs369248015 0.00003
NM_001035.3(RYR2):c.274-3C>T rs776347774 0.00003
NM_001035.3(RYR2):c.294+3A>G rs1321804058 0.00003
NM_001035.3(RYR2):c.2951G>A (p.Ser984Asn) rs730880188 0.00003
NM_001035.3(RYR2):c.295A>C (p.Lys99Gln) rs1172697175 0.00003
NM_001035.3(RYR2):c.3460C>T (p.Arg1154Cys) rs765617616 0.00003
NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile) rs762899950 0.00003
NM_001035.3(RYR2):c.4802A>G (p.Asn1601Ser) rs1474971861 0.00003
NM_001035.3(RYR2):c.4829G>A (p.Arg1610Gln) rs764687833 0.00003
NM_001035.3(RYR2):c.5011C>T (p.Arg1671Trp) rs747404408 0.00003
NM_001035.3(RYR2):c.5021A>G (p.His1674Arg) rs771414167 0.00003
NM_001035.3(RYR2):c.5066T>C (p.Ile1689Thr) rs763907583 0.00003
NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp) rs776550479 0.00003
NM_001035.3(RYR2):c.5371A>G (p.Thr1791Ala) rs1025023837 0.00003
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp) rs760010432 0.00003
NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln) rs370568809 0.00003
NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg) rs771590345 0.00003
NM_001035.3(RYR2):c.6232C>T (p.Pro2078Ser) rs780993255 0.00003
NM_001035.3(RYR2):c.6772C>T (p.Arg2258Cys) rs757350594 0.00003
NM_001035.3(RYR2):c.719A>G (p.His240Arg) rs369512347 0.00003
NM_001035.3(RYR2):c.7342+4A>T rs771358777 0.00003
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985 0.00003
NM_001035.3(RYR2):c.8041A>T (p.Met2681Leu) rs768547151 0.00003
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His) rs773748242 0.00003
NM_001035.3(RYR2):c.953A>G (p.Asp318Gly) rs1268335647 0.00003
NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn) rs1553197917 0.00003
NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser) rs866858282 0.00003
NM_001232.4(CASQ2):c.234+3A>G rs727502909 0.00003
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys) rs72554062 0.00003
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys) rs373227317 0.00003
NM_001232.4(CASQ2):c.752G>A (p.Arg251His) rs200265771 0.00003
NM_001232.4(CASQ2):c.878G>A (p.Arg293Gln) rs377691566 0.00003
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile) rs771188512 0.00003
NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu) rs976749091 0.00003
NM_001943.5(DSG2):c.122A>T (p.His41Leu) rs777373864 0.00003
NM_001943.5(DSG2):c.1418C>T (p.Ser473Leu) rs774607590 0.00003
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr) rs778119035 0.00003
NM_001943.5(DSG2):c.1642C>T (p.Arg548Cys) rs550400909 0.00003
NM_001943.5(DSG2):c.1792G>A (p.Gly598Ser) rs773666300 0.00003
NM_001943.5(DSG2):c.2079A>C (p.Glu693Asp) rs375595872 0.00003
NM_001943.5(DSG2):c.216+3A>C rs774208829 0.00003
NM_001943.5(DSG2):c.2162A>G (p.His721Arg) rs756912703 0.00003
NM_001943.5(DSG2):c.2426C>T (p.Ala809Val) rs1278738577 0.00003
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly) rs777642924 0.00003
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp) rs756338201 0.00003
NM_001943.5(DSG2):c.2638A>C (p.Asn880His) rs745617885 0.00003
NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg) rs374807974 0.00003
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala) rs727502991 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_001943.5(DSG2):c.721G>A (p.Ala241Thr) rs371918777 0.00003
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr) rs727502986 0.00003
NM_002230.4(JUP):c.1099C>G (p.Arg367Gly) rs76416187 0.00003
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe) rs369755953 0.00003
NM_002230.4(JUP):c.1235C>T (p.Thr412Met) rs782551865 0.00003
NM_002230.4(JUP):c.1379G>A (p.Arg460His) rs397517296 0.00003
NM_002230.4(JUP):c.1430G>A (p.Arg477His) rs781788038 0.00003
NM_002230.4(JUP):c.1439A>G (p.Tyr480Cys) rs782756834 0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr) rs727504778 0.00003
NM_002230.4(JUP):c.1996G>A (p.Val666Met) rs372369061 0.00003
NM_002230.4(JUP):c.2021A>G (p.Lys674Arg) rs1914011596 0.00003
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn) rs782261124 0.00003
NM_002230.4(JUP):c.332C>T (p.Thr111Ile) rs782080859 0.00003
NM_002230.4(JUP):c.467C>T (p.Pro156Leu) rs782052422 0.00003
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038 0.00003
NM_004415.4(DSP):c.2038G>A (p.Glu680Lys) rs1186943530 0.00003
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu) rs727504657 0.00003
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys) rs563387839 0.00003
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) rs794728122 0.00003
NM_004415.4(DSP):c.578G>T (p.Gly193Val) rs750350474 0.00003
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) rs140663822 0.00003
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val) rs774087560 0.00003
NM_004415.4(DSP):c.7588A>T (p.Ile2530Phe) rs397516958 0.00003
NM_004415.4(DSP):c.860A>G (p.Asn287Ser) rs138872423 0.00003
NM_006073.4(TRDN):c.1019A>G (p.Glu340Gly) rs745751151 0.00003
NM_006073.4(TRDN):c.1420+1G>T rs1375657667 0.00003
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg) rs926868398 0.00003
NM_006073.4(TRDN):c.1651A>G (p.Thr551Ala) rs1304157111 0.00003
NM_006073.4(TRDN):c.1708A>G (p.Ile570Val) rs915231524 0.00003
NM_006073.4(TRDN):c.1733C>A (p.Pro578Gln) rs761240477 0.00003
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln) rs199986608 0.00003
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn) rs771170294 0.00003
NM_006073.4(TRDN):c.196G>T (p.Val66Phe) rs372169818 0.00003
NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly) rs768748530 0.00003
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp) rs768303943 0.00003
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe) rs760549842 0.00003
NM_006073.4(TRDN):c.46G>C (p.Val16Leu) rs974343553 0.00003
NM_013266.4(CTNNA3):c.1007G>A (p.Arg336His) rs372482202 0.00003
NM_013266.4(CTNNA3):c.1064G>A (p.Arg355Lys) rs375610128 0.00003
NM_013266.4(CTNNA3):c.1281+4A>G rs1364739747 0.00003
NM_013266.4(CTNNA3):c.1610C>T (p.Ala537Val) rs769674937 0.00003
NM_013266.4(CTNNA3):c.1627C>T (p.Arg543Trp) rs372758887 0.00003
NM_013266.4(CTNNA3):c.1630G>A (p.Ala544Thr) rs376250417 0.00003
NM_013266.4(CTNNA3):c.2098G>A (p.Asp700Asn) rs570471424 0.00003
NM_013266.4(CTNNA3):c.2278T>C (p.Ser760Pro) rs760532002 0.00003
NM_013266.4(CTNNA3):c.232C>T (p.Gln78Ter) rs201306690 0.00003
NM_013266.4(CTNNA3):c.2368C>G (p.Gln790Glu) rs758882774 0.00003
NM_013266.4(CTNNA3):c.305A>T (p.Lys102Ile) rs777996573 0.00003
NM_013266.4(CTNNA3):c.452T>G (p.Val151Gly) rs756167695 0.00003
NM_013266.4(CTNNA3):c.571C>T (p.Arg191Cys) rs755934798 0.00003
NM_013266.4(CTNNA3):c.674G>T (p.Cys225Phe) rs747835139 0.00003
NM_013266.4(CTNNA3):c.907C>T (p.Arg303Cys) rs747726450 0.00003
NM_013266.4(CTNNA3):c.935C>T (p.Ala312Val) rs758173783 0.00003
NM_013266.4(CTNNA3):c.999C>A (p.Asn333Lys) rs146754105 0.00003
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys) rs752269639 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys) rs140347235 0.00003
NM_024334.3(TMEM43):c.406G>A (p.Asp136Asn) rs559271953 0.00003
NM_024334.3(TMEM43):c.644A>C (p.His215Pro) rs730880225 0.00003
NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys) rs182464375 0.00003
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser) rs371797765 0.00003
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp) rs139842014 0.00003
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln) rs757651177 0.00003
NM_024334.3(TMEM43):c.980C>G (p.Thr327Arg) rs368111230 0.00003
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn) rs757065157 0.00003
NM_024422.6(DSC2):c.115G>A (p.Val39Ile) rs1447651355 0.00003
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr) rs373324195 0.00003
NM_024422.6(DSC2):c.1663+4A>G rs369849387 0.00003
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp) rs1342808624 0.00003
NM_024422.6(DSC2):c.2036A>G (p.His679Arg) rs145710244 0.00003
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser) rs199616533 0.00003
NM_024422.6(DSC2):c.2126G>A (p.Cys709Tyr) rs145831682 0.00003
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln) rs535014010 0.00003
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220 0.00003
NM_024422.6(DSC2):c.395G>A (p.Arg132His) rs375410133 0.00003
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593 0.00003
NM_024422.6(DSC2):c.601G>A (p.Val201Ile) rs202058544 0.00003
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln) rs200634448 0.00003
NM_024422.6(DSC2):c.818C>T (p.Pro273Leu) rs864622708 0.00003
NM_024422.6(DSC2):c.841A>G (p.Lys281Glu) rs373697870 0.00003
NM_001005242.3(PKP2):c.1045A>G (p.Met349Val) rs199957846 0.00002
NM_001005242.3(PKP2):c.1127T>C (p.Phe376Ser) rs56869013 0.00002
NM_001005242.3(PKP2):c.1183C>T (p.Arg395Cys) rs761238380 0.00002
NM_001005242.3(PKP2):c.1322G>A (p.Arg441Gln) rs753912985 0.00002
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697 0.00002
NM_001005242.3(PKP2):c.1379-2012C>T rs760461056 0.00002
NM_001005242.3(PKP2):c.1379-2103A>G rs764608036 0.00002
NM_001005242.3(PKP2):c.1483C>G (p.Pro495Ala) rs543325231 0.00002
NM_001005242.3(PKP2):c.1510G>T (p.Gly504Cys) rs374641292 0.00002
NM_001005242.3(PKP2):c.155A>G (p.Lys52Arg) rs549598534 0.00002
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu) rs866789949 0.00002
NM_001005242.3(PKP2):c.1820G>A (p.Arg607Gln) rs763648594 0.00002
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961 0.00002
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg) rs776915959 0.00002
NM_001005242.3(PKP2):c.1952G>A (p.Arg651His) rs758813231 0.00002
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala) rs867374780 0.00002
NM_001005242.3(PKP2):c.2072G>A (p.Arg691Gln) rs547215531 0.00002
NM_001005242.3(PKP2):c.2140C>T (p.Arg714Trp) rs537046857 0.00002
NM_001005242.3(PKP2):c.2234T>C (p.Ile745Thr) rs543233804 0.00002
NM_001005242.3(PKP2):c.2404T>G (p.Ser802Ala) rs1183143350 0.00002
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met) rs146118033 0.00002
NM_001005242.3(PKP2):c.2454T>G (p.Phe818Leu) rs1408272849 0.00002
NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile) rs370599966 0.00002
NM_001005242.3(PKP2):c.288T>G (p.Asp96Glu) rs762825735 0.00002
NM_001005242.3(PKP2):c.361G>A (p.Gly121Ser) rs1295581142 0.00002
NM_001005242.3(PKP2):c.382G>A (p.Ala128Thr) rs1193697338 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001005242.3(PKP2):c.587G>A (p.Arg196His) rs146566525 0.00002
NM_001005242.3(PKP2):c.602G>A (p.Gly201Glu) rs757316313 0.00002
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389 0.00002
NM_001005242.3(PKP2):c.818C>T (p.Pro273Leu) rs878943755 0.00002
NM_001005242.3(PKP2):c.976G>A (p.Ala326Thr) rs148480056 0.00002
NM_001035.3(RYR2):c.10258G>A (p.Val3420Ile) rs397516497 0.00002
NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys) rs773252606 0.00002
NM_001035.3(RYR2):c.10373G>A (p.Arg3458Gln) rs762944627 0.00002
NM_001035.3(RYR2):c.10444G>A (p.Ala3482Thr) rs757656504 0.00002
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln) rs748805290 0.00002
NM_001035.3(RYR2):c.1066T>C (p.Tyr356His) rs794728718 0.00002
NM_001035.3(RYR2):c.10708C>T (p.Arg3570Trp) rs765835441 0.00002
NM_001035.3(RYR2):c.11018G>A (p.Arg3673Gln) rs778111237 0.00002
NM_001035.3(RYR2):c.11090A>G (p.Lys3697Arg) rs754610757 0.00002
NM_001035.3(RYR2):c.1166G>A (p.Arg389His) rs200685968 0.00002
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala) rs755148895 0.00002
NM_001035.3(RYR2):c.12160A>G (p.Ser4054Gly) rs376781046 0.00002
NM_001035.3(RYR2):c.12674G>A (p.Arg4225Lys) rs1223110750 0.00002
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) rs758904216 0.00002
NM_001035.3(RYR2):c.13411G>A (p.Gly4471Arg) rs794728797 0.00002
NM_001035.3(RYR2):c.13477-18A>G rs1381666659 0.00002
NM_001035.3(RYR2):c.1354G>A (p.Val452Ile) rs375218751 0.00002
NM_001035.3(RYR2):c.13563+4C>T rs926460699 0.00002
NM_001035.3(RYR2):c.143T>C (p.Phe48Ser) rs774559907 0.00002
NM_001035.3(RYR2):c.1476+3C>T rs1387762631 0.00002
NM_001035.3(RYR2):c.1613C>T (p.Ala538Val) rs1461019181 0.00002
NM_001035.3(RYR2):c.1614G>A (p.Ala538=) rs566885717 0.00002
NM_001035.3(RYR2):c.1707A>G (p.Ser569=) rs757215216 0.00002
NM_001035.3(RYR2):c.1940G>A (p.Arg647His) rs766330093 0.00002
NM_001035.3(RYR2):c.2251A>G (p.Thr751Ala) rs878854154 0.00002
NM_001035.3(RYR2):c.2506C>A (p.His836Asn) rs760544949 0.00002
NM_001035.3(RYR2):c.2615T>C (p.Ile872Thr) rs749607906 0.00002
NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys) rs754181384 0.00002
NM_001035.3(RYR2):c.322G>A (p.Gly108Ser) rs1431073529 0.00002
NM_001035.3(RYR2):c.3484G>A (p.Val1162Met) rs377030538 0.00002
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys) rs397516527 0.00002
NM_001035.3(RYR2):c.36G>C (p.Gln12His) rs746811389 0.00002
NM_001035.3(RYR2):c.4161-5T>C rs1416816823 0.00002
NM_001035.3(RYR2):c.458C>T (p.Thr153Ile) rs766802574 0.00002
NM_001035.3(RYR2):c.4596+6C>T rs766080208 0.00002
NM_001035.3(RYR2):c.469G>T (p.Ala157Ser) rs753443369 0.00002
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg) rs765351308 0.00002
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser) rs727503400 0.00002
NM_001035.3(RYR2):c.5096G>A (p.Arg1699His) rs779464111 0.00002
NM_001035.3(RYR2):c.556G>A (p.Val186Met) rs201211033 0.00002
NM_001035.3(RYR2):c.5801C>T (p.Ala1934Val) rs368009389 0.00002
NM_001035.3(RYR2):c.5825T>G (p.Phe1942Cys) rs397516546 0.00002
NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val) rs780681855 0.00002
NM_001035.3(RYR2):c.6013A>G (p.Thr2005Ala) rs373235823 0.00002
NM_001035.3(RYR2):c.6254T>C (p.Phe2085Ser) rs762814340 0.00002
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr) rs142498105 0.00002
NM_001035.3(RYR2):c.7060G>T (p.Ala2354Ser) rs773070579 0.00002
NM_001035.3(RYR2):c.7063G>A (p.Glu2355Lys) rs754990305 0.00002
NM_001035.3(RYR2):c.7375G>A (p.Gly2459Arg) rs1481363942 0.00002
NM_001035.3(RYR2):c.782A>G (p.His261Arg) rs577416427 0.00002
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val) rs869025513 0.00002
NM_001035.3(RYR2):c.8130T>G (p.Asn2710Lys) rs876661388 0.00002
NM_001035.3(RYR2):c.8357G>C (p.Gly2786Ala) rs1060500149 0.00002
NM_001035.3(RYR2):c.8398C>G (p.Leu2800Val) rs1060500143 0.00002
NM_001035.3(RYR2):c.8470C>T (p.Arg2824Trp) rs796052204 0.00002
NM_001035.3(RYR2):c.8696A>G (p.Asn2899Ser) rs1057524444 0.00002
NM_001035.3(RYR2):c.8749A>G (p.Ile2917Val) rs981753891 0.00002
NM_001035.3(RYR2):c.9094T>G (p.Cys3032Gly) rs193007458 0.00002
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn) rs1060500168 0.00002
NM_001035.3(RYR2):c.9641T>A (p.Leu3214His) rs752385143 0.00002
NM_001035.3(RYR2):c.9673G>A (p.Gly3225Ser) rs780484631 0.00002
NM_001035.3(RYR2):c.9743G>A (p.Arg3248His) rs1041429670 0.00002
NM_001232.4(CASQ2):c.1046A>T (p.Asp349Val) rs372865933 0.00002
NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys) rs185539994 0.00002
NM_001232.4(CASQ2):c.478C>T (p.Arg160Cys) rs750680032 0.00002
NM_001232.4(CASQ2):c.479G>A (p.Arg160His) rs372283956 0.00002
NM_001232.4(CASQ2):c.673A>G (p.Ile225Val) rs774546117 0.00002
NM_001232.4(CASQ2):c.737+6T>A rs760688872 0.00002
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser) rs548536938 0.00002
NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys) rs774863785 0.00002
NM_001943.5(DSG2):c.1480G>A (p.Asp494Asn) rs747248279 0.00002
NM_001943.5(DSG2):c.1503G>T (p.Glu501Asp) rs1191142951 0.00002
NM_001943.5(DSG2):c.1820A>G (p.Tyr607Cys) rs766843045 0.00002
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met) rs200137091 0.00002
NM_001943.5(DSG2):c.2165G>A (p.Arg722Lys) rs376819371 0.00002
NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr) rs397516705 0.00002
NM_001943.5(DSG2):c.2269A>T (p.Met757Leu) rs750010743 0.00002
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser) rs775091459 0.00002
NM_001943.5(DSG2):c.2623A>G (p.Met875Val) rs370316475 0.00002
NM_001943.5(DSG2):c.2833A>G (p.Thr945Ala) rs746297630 0.00002
NM_001943.5(DSG2):c.2996C>T (p.Ser999Leu) rs762717195 0.00002
NM_001943.5(DSG2):c.3112A>G (p.Ile1038Val) rs774113529 0.00002
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln) rs532305326 0.00002
NM_001943.5(DSG2):c.527C>T (p.Thr176Ile) rs536617217 0.00002
NM_001943.5(DSG2):c.82-17A>G rs757764234 0.00002
NM_001943.5(DSG2):c.86T>C (p.Leu29Ser) rs786205361 0.00002
NM_001943.5(DSG2):c.8G>A (p.Arg3Gln) rs979865463 0.00002
NM_001943.5(DSG2):c.919C>G (p.Leu307Val) rs1052070604 0.00002
NM_001943.5(DSG2):c.973A>G (p.Thr325Ala) rs745763739 0.00002
NM_001943.5(DSG2):c.977A>T (p.Asp326Val) rs769699241 0.00002
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00002
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) rs794729045 0.00002
NM_002230.4(JUP):c.148G>A (p.Gly50Arg) rs374008304 0.00002
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg) rs1327324458 0.00002
NM_002230.4(JUP):c.1513A>G (p.Ile505Val) rs955019712 0.00002
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys) rs782455234 0.00002
NM_002230.4(JUP):c.1714C>T (p.Arg572Trp) rs559297418 0.00002
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485 0.00002
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys) rs199511559 0.00002
NM_002230.4(JUP):c.1850C>T (p.Ala617Val) rs782465804 0.00002
NM_002230.4(JUP):c.1865A>T (p.Asp622Val) rs1021325325 0.00002
NM_002230.4(JUP):c.2153T>C (p.Met718Thr) rs782336064 0.00002
NM_002230.4(JUP):c.2191G>A (p.Asp731Asn) rs782647137 0.00002
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser) rs781885294 0.00002
NM_002230.4(JUP):c.274G>T (p.Gly92Cys) rs781875765 0.00002
NM_002230.4(JUP):c.286G>A (p.Glu96Lys) rs191683892 0.00002
NM_002230.4(JUP):c.436G>A (p.Glu146Lys) rs146581757 0.00002
NM_002230.4(JUP):c.502C>G (p.Gln168Glu) rs1322804388 0.00002
NM_002230.4(JUP):c.521C>T (p.Ala174Val) rs146786437 0.00002
NM_002230.4(JUP):c.524C>T (p.Ser175Leu) rs782435477 0.00002
NM_002230.4(JUP):c.533C>T (p.Ala178Val) rs781976753 0.00002
NM_002230.4(JUP):c.572G>A (p.Arg191His) rs143502391 0.00002
NM_002230.4(JUP):c.646C>T (p.Arg216Trp) rs1490199319 0.00002
NM_002230.4(JUP):c.675G>A (p.Ser225=) rs782063643 0.00002
NM_002230.4(JUP):c.682A>G (p.Ile228Val) rs374566089 0.00002
NM_002230.4(JUP):c.833A>G (p.Asn278Ser) rs541560189 0.00002
NM_002230.4(JUP):c.951G>C (p.Gln317His) rs782215140 0.00002
NM_002230.4(JUP):c.964T>C (p.Tyr322His) rs557075259 0.00002
NM_004415.4(DSP):c.1419+5G>C rs1004508873 0.00002
NM_004415.4(DSP):c.1732A>C (p.Lys578Gln) rs761478865 0.00002
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00002
NM_004415.4(DSP):c.2234A>G (p.Glu745Gly) rs969462343 0.00002
NM_004415.4(DSP):c.2479A>T (p.Thr827Ser) rs1009521297 0.00002
NM_004415.4(DSP):c.2674C>T (p.Arg892Cys) rs750800025 0.00002
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr) rs763915365 0.00002
NM_004415.4(DSP):c.384G>A (p.Met128Ile) rs930440897 0.00002
NM_004415.4(DSP):c.5009A>G (p.Gln1670Arg) rs1052973336 0.00002
NM_004415.4(DSP):c.517A>T (p.Thr173Ser) rs1372912970 0.00002
NM_004415.4(DSP):c.5183G>A (p.Arg1728Lys) rs750854585 0.00002
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe) rs1581822548 0.00002
NM_004415.4(DSP):c.7200A>C (p.Glu2400Asp) rs1209240894 0.00002
NM_004415.4(DSP):c.740C>T (p.Ala247Val) rs544360130 0.00002
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp) rs766454930 0.00002
NM_006073.4(TRDN):c.1043A>G (p.Glu348Gly) rs755708624 0.00002
NM_006073.4(TRDN):c.110C>T (p.Thr37Ile) rs1289581577 0.00002
NM_006073.4(TRDN):c.1220-3C>T rs773907258 0.00002
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala) rs367564871 0.00002
NM_006073.4(TRDN):c.1547G>C (p.Gly516Ala) rs145032876 0.00002
NM_006073.4(TRDN):c.1567G>C (p.Glu523Gln) rs1319380436 0.00002
NM_006073.4(TRDN):c.1582A>G (p.Lys528Glu) rs774550097 0.00002
NM_006073.4(TRDN):c.1671A>G (p.Pro557=) rs935484433 0.00002
NM_006073.4(TRDN):c.1934T>G (p.Leu645Ter) rs747836980 0.00002
NM_006073.4(TRDN):c.1976-6C>G rs368752139 0.00002
NM_006073.4(TRDN):c.1990G>A (p.Val664Ile) rs756257644 0.00002
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile) rs780892167 0.00002
NM_006073.4(TRDN):c.2164C>G (p.Pro722Ala) rs774449661 0.00002
NM_006073.4(TRDN):c.2182G>A (p.Gly728Arg) rs777497275 0.00002
NM_006073.4(TRDN):c.2185C>T (p.Gln729Ter) rs769741426 0.00002
NM_006073.4(TRDN):c.439A>G (p.Lys147Glu) rs554795197 0.00002
NM_006073.4(TRDN):c.605C>T (p.Ala202Val) rs765653366 0.00002
NM_006073.4(TRDN):c.863C>T (p.Pro288Leu) rs1408332939 0.00002
NM_013266.4(CTNNA3):c.1128+7G>T rs200113495 0.00002
NM_013266.4(CTNNA3):c.1402G>A (p.Ala468Thr) rs151007312 0.00002
NM_013266.4(CTNNA3):c.1451G>A (p.Arg484His) rs748621335 0.00002
NM_013266.4(CTNNA3):c.16_17insA (p.Pro6fs) rs776492451 0.00002
NM_013266.4(CTNNA3):c.1853A>G (p.His618Arg) rs184992188 0.00002
NM_013266.4(CTNNA3):c.1880T>A (p.Ile627Asn) rs755658279 0.00002
NM_013266.4(CTNNA3):c.213C>G (p.Asp71Glu) rs771791661 0.00002
NM_013266.4(CTNNA3):c.370G>A (p.Ala124Thr) rs779719958 0.00002
NM_013266.4(CTNNA3):c.592C>A (p.Pro198Thr) rs777817815 0.00002
NM_013266.4(CTNNA3):c.622C>T (p.Arg208Ter) rs755323657 0.00002
NM_013266.4(CTNNA3):c.670G>C (p.Ala224Pro) rs1396052717 0.00002
NM_013266.4(CTNNA3):c.67G>A (p.Val23Met) rs776250185 0.00002
NM_013266.4(CTNNA3):c.764C>T (p.Ala255Val) rs1477830086 0.00002
NM_013266.4(CTNNA3):c.76C>A (p.Leu26Ile) rs1327418198 0.00002
NM_013266.4(CTNNA3):c.99+5T>C rs200746095 0.00002
NM_024334.3(TMEM43):c.1000+5G>T rs376589026 0.00002
NM_024334.3(TMEM43):c.1022G>A (p.Arg341Gln) rs749727938 0.00002
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu) rs730880227 0.00002
NM_024334.3(TMEM43):c.1172G>A (p.Arg391Gln) rs757742631 0.00002
NM_024334.3(TMEM43):c.1184C>G (p.Pro395Arg) rs1169613716 0.00002
NM_024334.3(TMEM43):c.179C>T (p.Thr60Met) rs1362645227 0.00002
NM_024334.3(TMEM43):c.317A>G (p.Tyr106Cys) rs747310600 0.00002
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp) rs201085402 0.00002
NM_024334.3(TMEM43):c.32G>A (p.Arg11Gln) rs568179990 0.00002
NM_024334.3(TMEM43):c.355G>A (p.Val119Met) rs757430674 0.00002
NM_024334.3(TMEM43):c.475A>G (p.Lys159Glu) rs1269566290 0.00002
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala) rs397517386 0.00002
NM_024334.3(TMEM43):c.705+6C>T rs185025731 0.00002
NM_024334.3(TMEM43):c.719G>A (p.Arg240His) rs758817244 0.00002
NM_024334.3(TMEM43):c.778G>A (p.Val260Met) rs758872772 0.00002
NM_024334.3(TMEM43):c.956T>C (p.Met319Thr) rs775113815 0.00002
NM_024334.3(TMEM43):c.98C>T (p.Ser33Leu) rs539753097 0.00002
NM_024422.6(DSC2):c.1033A>G (p.Ile345Val) rs1177194145 0.00002
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) rs560482778 0.00002
NM_024422.6(DSC2):c.1438A>G (p.Met480Val) rs370616107 0.00002
NM_024422.6(DSC2):c.1456G>A (p.Val486Met) rs188634770 0.00002
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) rs397517391 0.00002
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu) rs977269905 0.00002
NM_024422.6(DSC2):c.1846A>G (p.Thr616Ala) rs753887142 0.00002
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile) rs1225904818 0.00002
NM_024422.6(DSC2):c.20C>T (p.Ser7Phe) rs1227564823 0.00002
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met) rs180863872 0.00002
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr) rs777004957 0.00002
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu) rs1617629 0.00002
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp) rs201548399 0.00002
NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp) rs776401728 0.00002
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 0.00002
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg) rs750961818 0.00002
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) rs149848359 0.00002
NM_024422.6(DSC2):c.824C>T (p.Thr275Met) rs397517404 0.00002
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_024422.6(DSC2):c.874C>T (p.Pro292Ser) rs767340313 0.00002
NM_024422.6(DSC2):c.898A>G (p.Thr300Ala) rs531245154 0.00002
NM_024422.6(DSC2):c.965A>G (p.Lys322Arg) rs1157312147 0.00002
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro) rs397517409 0.00002
NM_001005242.3(PKP2):c.1024T>C (p.Ser342Pro) rs563797120 0.00001
NM_001005242.3(PKP2):c.1025C>T (p.Ser342Phe) rs1282672078 0.00001
NM_001005242.3(PKP2):c.1069G>A (p.Val357Met) rs766334171 0.00001
NM_001005242.3(PKP2):c.1091A>T (p.His364Leu) rs763114466 0.00001
NM_001005242.3(PKP2):c.1095G>A (p.Met365Ile) rs770333863 0.00001
NM_001005242.3(PKP2):c.1106G>A (p.Arg369Lys) rs771293688 0.00001
NM_001005242.3(PKP2):c.110A>G (p.Lys37Arg) rs781400459 0.00001
NM_001005242.3(PKP2):c.1129A>G (p.Ile377Val) rs1565596114 0.00001
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr) rs397516985 0.00001
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365 0.00001
NM_001005242.3(PKP2):c.1163G>A (p.Arg388Gln) rs756000218 0.00001
NM_001005242.3(PKP2):c.1181T>A (p.Leu394His) rs766842360 0.00001
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220 0.00001
NM_001005242.3(PKP2):c.1292T>C (p.Leu431Ser) rs143397927 0.00001
NM_001005242.3(PKP2):c.1312G>A (p.Gly438Arg) rs1956689163 0.00001
NM_001005242.3(PKP2):c.1321C>T (p.Arg441Trp) rs755233999 0.00001
NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr) rs750897570 0.00001
NM_001005242.3(PKP2):c.1379-1983C>G rs377000496 0.00001
NM_001005242.3(PKP2):c.1379-2028C>A rs752119095 0.00001
NM_001005242.3(PKP2):c.1379-2033G>A rs757689437 0.00001
NM_001005242.3(PKP2):c.1379-2051G>A rs1408803372 0.00001
NM_001005242.3(PKP2):c.1379-2055G>A rs920363668 0.00001
NM_001005242.3(PKP2):c.1379-2111C>T rs1172703594 0.00001
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser) rs374163198 0.00001
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val) rs763749576 0.00001
NM_001005242.3(PKP2):c.1429A>G (p.Thr477Ala) rs775192286 0.00001
NM_001005242.3(PKP2):c.1457A>T (p.Asn486Ile) rs780349259 0.00001
NM_001005242.3(PKP2):c.1492G>A (p.Asp498Asn) rs879068263 0.00001
NM_001005242.3(PKP2):c.149C>T (p.Thr50Ile) rs1402887591 0.00001
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp) rs774778142 0.00001
NM_001005242.3(PKP2):c.154A>G (p.Lys52Glu) rs920017662 0.00001
NM_001005242.3(PKP2):c.1557-7del rs1258853212 0.00001
NM_001005242.3(PKP2):c.158G>A (p.Ser53Asn) rs776363973 0.00001
NM_001005242.3(PKP2):c.1604G>A (p.Cys535Tyr) rs1956409874 0.00001
NM_001005242.3(PKP2):c.1711T>A (p.Ser571Thr) rs768286281 0.00001
NM_001005242.3(PKP2):c.1748C>G (p.Ser583Cys) rs769817013 0.00001
NM_001005242.3(PKP2):c.1757T>C (p.Ile586Thr) rs397517011 0.00001
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys) rs1060501183 0.00001
NM_001005242.3(PKP2):c.1762A>G (p.Ile588Val) rs1169362109 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_001005242.3(PKP2):c.1784C>A (p.Thr595Asn) rs1354122232 0.00001
NM_001005242.3(PKP2):c.1896G>T (p.Trp632Cys) rs193922673 0.00001
NM_001005242.3(PKP2):c.1920G>T (p.Arg640Ser) rs760660042 0.00001
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr) rs759920696 0.00001
NM_001005242.3(PKP2):c.1985T>C (p.Leu662Pro) rs878854709 0.00001
NM_001005242.3(PKP2):c.1989G>T (p.Gln663His) rs765884775 0.00001
NM_001005242.3(PKP2):c.2013+3G>A rs1222272381 0.00001
NM_001005242.3(PKP2):c.2017C>T (p.Pro673Ser) rs757205704 0.00001
NM_001005242.3(PKP2):c.2030C>T (p.Ala677Val) rs1359431679 0.00001
NM_001005242.3(PKP2):c.2071C>G (p.Arg691Gly) rs121434421 0.00001
NM_001005242.3(PKP2):c.212C>T (p.Ser71Phe) rs796597346 0.00001
NM_001005242.3(PKP2):c.2159A>G (p.Asn720Ser) rs767496004 0.00001
NM_001005242.3(PKP2):c.2176A>T (p.Thr726Ser) rs1249551566 0.00001
NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val) rs556563706 0.00001
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala) rs1555141066 0.00001
NM_001005242.3(PKP2):c.2216C>T (p.Pro739Leu) rs758834771 0.00001
NM_001005242.3(PKP2):c.222C>A (p.Asn74Lys) rs753180642 0.00001
NM_001005242.3(PKP2):c.2246C>A (p.Ala749Asp) rs727504950 0.00001
NM_001005242.3(PKP2):c.224G>A (p.Gly75Glu) rs267603443 0.00001
NM_001005242.3(PKP2):c.2282A>G (p.Asn761Ser) rs1488359220 0.00001
NM_001005242.3(PKP2):c.2300G>A (p.Arg767His) rs533884071 0.00001
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg) rs766775778 0.00001
NM_001005242.3(PKP2):c.2356G>C (p.Ala786Pro) rs768463319 0.00001
NM_001005242.3(PKP2):c.2363C>T (p.Ala788Val) rs763663760 0.00001
NM_001005242.3(PKP2):c.2411G>C (p.Trp804Ser) rs117425357 0.00001
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr) rs397517023 0.00001
NM_001005242.3(PKP2):c.2438A>T (p.Tyr813Phe) rs751287217 0.00001
NM_001005242.3(PKP2):c.2471T>A (p.Val824Asp) rs752195586 0.00001
NM_001005242.3(PKP2):c.2479C>T (p.Arg827Trp) rs754873048 0.00001
NM_001005242.3(PKP2):c.298G>A (p.Gly100Ser) rs769509055 0.00001
NM_001005242.3(PKP2):c.29A>G (p.Tyr10Cys) rs1181973282 0.00001
NM_001005242.3(PKP2):c.301C>T (p.Arg101Cys) rs796827562 0.00001
NM_001005242.3(PKP2):c.35A>G (p.Tyr12Cys) rs763433296 0.00001
NM_001005242.3(PKP2):c.374G>A (p.Arg125Lys) rs1278479150 0.00001
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys) rs781739949 0.00001
NM_001005242.3(PKP2):c.414A>T (p.Glu138Asp) rs771153426 0.00001
NM_001005242.3(PKP2):c.454C>T (p.Pro152Ser) rs972806409 0.00001
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg) rs397517026 0.00001
NM_001005242.3(PKP2):c.467C>T (p.Pro156Leu) rs766360871 0.00001
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala) rs765195368 0.00001
NM_001005242.3(PKP2):c.485C>T (p.Thr162Met) rs759687672 0.00001
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn) rs886049322 0.00001
NM_001005242.3(PKP2):c.530C>A (p.Thr177Asn) rs779467662 0.00001
NM_001005242.3(PKP2):c.536A>G (p.His179Arg) rs1371222715 0.00001
NM_001005242.3(PKP2):c.553C>T (p.Arg185Trp) rs571569344 0.00001
NM_001005242.3(PKP2):c.554G>A (p.Arg185Gln) rs765477952 0.00001
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr) rs200095747 0.00001
NM_001005242.3(PKP2):c.575C>T (p.Pro192Leu) rs748566573 0.00001
NM_001005242.3(PKP2):c.598G>A (p.Val200Met) rs369923216 0.00001
NM_001005242.3(PKP2):c.610C>T (p.Arg204Cys) rs777497296 0.00001
NM_001005242.3(PKP2):c.688G>A (p.Val230Ile) rs543281875 0.00001
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu) rs560220280 0.00001
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn) rs1085307949 0.00001
NM_001005242.3(PKP2):c.748C>T (p.Arg250Cys) rs577631447 0.00001
NM_001005242.3(PKP2):c.784C>A (p.Leu262Met) rs199701968 0.00001
NM_001005242.3(PKP2):c.788C>T (p.Thr263Met) rs543758984 0.00001
NM_001005242.3(PKP2):c.830T>C (p.Leu277Pro) rs772827289 0.00001
NM_001005242.3(PKP2):c.838G>A (p.Val280Ile) rs748148237 0.00001
NM_001005242.3(PKP2):c.854C>T (p.Ala285Val) rs372664096 0.00001
NM_001005242.3(PKP2):c.878G>C (p.Ser293Thr) rs1323074715 0.00001
NM_001005242.3(PKP2):c.8C>T (p.Ala3Val) rs1033569962 0.00001
NM_001005242.3(PKP2):c.914G>A (p.Gly305Glu) rs146683466 0.00001
NM_001005242.3(PKP2):c.925G>A (p.Ala309Thr) rs761677945 0.00001
NM_001005242.3(PKP2):c.931G>C (p.Asp311His) rs1956947554 0.00001
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala) rs756604557 0.00001
NM_001005242.3(PKP2):c.941G>A (p.Gly314Glu) rs139903989 0.00001
NM_001005242.3(PKP2):c.958A>G (p.Thr320Ala) rs879225885 0.00001
NM_001035.3(RYR2):c.10033del (p.Arg3345fs) rs1060503778 0.00001
NM_001035.3(RYR2):c.10037G>A (p.Gly3346Glu) rs1688603399 0.00001
NM_001035.3(RYR2):c.10079C>T (p.Thr3360Ile) rs924056885 0.00001
NM_001035.3(RYR2):c.10087G>C (p.Ala3363Pro) rs374584820 0.00001
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe) rs377712921 0.00001
NM_001035.3(RYR2):c.10142+3A>G rs936725908 0.00001
NM_001035.3(RYR2):c.10142+4T>C rs397516496 0.00001
NM_001035.3(RYR2):c.10142+6A>T rs766051753 0.00001
NM_001035.3(RYR2):c.10143-10T>C rs1300930938 0.00001
NM_001035.3(RYR2):c.10174G>A (p.Ala3392Thr) rs1325112585 0.00001
NM_001035.3(RYR2):c.10230T>C (p.His3410=) rs370078129 0.00001
NM_001035.3(RYR2):c.10247A>C (p.Glu3416Ala) rs1409897706 0.00001
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His) rs368064371 0.00001
NM_001035.3(RYR2):c.10361G>A (p.Arg3454His) rs1229045575 0.00001
NM_001035.3(RYR2):c.10370A>C (p.Asp3457Ala) rs544496844 0.00001
NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp) rs747138259 0.00001
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu) rs375947003 0.00001
NM_001035.3(RYR2):c.10612A>C (p.Thr3538Pro) rs894881755 0.00001
NM_001035.3(RYR2):c.10622C>A (p.Thr3541Asn) rs1169415432 0.00001
NM_001035.3(RYR2):c.10637A>G (p.Lys3546Arg) rs1011095512 0.00001
NM_001035.3(RYR2):c.10681C>G (p.Leu3561Val) rs1022428392 0.00001
NM_001035.3(RYR2):c.10816G>A (p.Ala3606Thr) rs772511386 0.00001
NM_001035.3(RYR2):c.10826A>G (p.Tyr3609Cys) rs747372037 0.00001
NM_001035.3(RYR2):c.10844G>A (p.Arg3615Gln) rs879255349 0.00001
NM_001035.3(RYR2):c.1085A>G (p.Tyr362Cys) rs1287712794 0.00001
NM_001035.3(RYR2):c.10873G>A (p.Glu3625Lys) rs1225994973 0.00001
NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys) rs748501600 0.00001
NM_001035.3(RYR2):c.10970G>A (p.Gly3657Asp) rs876661020 0.00001
NM_001035.3(RYR2):c.10973C>G (p.Thr3658Ser) rs766499417 0.00001
NM_001035.3(RYR2):c.10975A>G (p.Lys3659Glu) rs184527312 0.00001
NM_001035.3(RYR2):c.10982T>C (p.Val3661Ala) rs1163500187 0.00001
NM_001035.3(RYR2):c.10987C>T (p.Pro3663Ser) rs1299197961 0.00001
NM_001035.3(RYR2):c.11036A>G (p.Lys3679Arg) rs758125356 0.00001
NM_001035.3(RYR2):c.11040-3C>T rs876657984 0.00001
NM_001035.3(RYR2):c.11065A>G (p.Met3689Val) rs1215940793 0.00001
NM_001035.3(RYR2):c.11111A>G (p.Asp3704Gly) rs1334028810 0.00001
NM_001035.3(RYR2):c.11158G>C (p.Glu3720Gln) rs770241781 0.00001
NM_001035.3(RYR2):c.1115T>A (p.Leu372His) rs763658621 0.00001
NM_001035.3(RYR2):c.11207C>T (p.Ala3736Val) rs1209754420 0.00001
NM_001035.3(RYR2):c.11266G>A (p.Ala3756Thr) rs942942966 0.00001
NM_001035.3(RYR2):c.11402+6G>A rs374183234 0.00001
NM_001035.3(RYR2):c.11428C>T (p.Arg3810Ter) rs1446308525 0.00001
NM_001035.3(RYR2):c.11480A>C (p.Glu3827Ala) rs1446930267 0.00001
NM_001035.3(RYR2):c.11484G>T (p.Lys3828Asn) rs1200279072 0.00001
NM_001035.3(RYR2):c.11485G>A (p.Val3829Ile) rs886524806 0.00001
NM_001035.3(RYR2):c.11552A>G (p.Asn3851Ser) rs967116157 0.00001
NM_001035.3(RYR2):c.11558-10T>A rs1060500167 0.00001
NM_001035.3(RYR2):c.1159A>C (p.Ile387Leu) rs748169418 0.00001
NM_001035.3(RYR2):c.11608A>G (p.Ile3870Val) rs1333353951 0.00001
NM_001035.3(RYR2):c.11672A>T (p.Tyr3891Phe) rs1430332496 0.00001
NM_001035.3(RYR2):c.1174A>G (p.Ile392Val) rs574563209 0.00001
NM_001035.3(RYR2):c.11775+6C>A rs758183625 0.00001
NM_001035.3(RYR2):c.11839T>C (p.Phe3947Leu) rs1490290877 0.00001
NM_001035.3(RYR2):c.11894T>C (p.Ile3965Thr) rs1272734214 0.00001
NM_001035.3(RYR2):c.11998G>A (p.Val4000Met) rs773760019 0.00001
NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser) rs1330847491 0.00001
NM_001035.3(RYR2):c.12057G>A (p.Met4019Ile) rs763668006 0.00001
NM_001035.3(RYR2):c.12152C>T (p.Ala4051Val) rs1326672128 0.00001
NM_001035.3(RYR2):c.12167A>G (p.Lys4056Arg) rs762743022 0.00001
NM_001035.3(RYR2):c.12210G>A (p.Ala4070=) rs757703714 0.00001
NM_001035.3(RYR2):c.12244G>A (p.Glu4082Lys) rs774241742 0.00001
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser) rs753850982 0.00001
NM_001035.3(RYR2):c.12292G>A (p.Val4098Ile) rs1047248475 0.00001
NM_001035.3(RYR2):c.12298G>A (p.Val4100Ile) rs758785338 0.00001
NM_001035.3(RYR2):c.12403C>T (p.Arg4135Cys) rs761039434 0.00001
NM_001035.3(RYR2):c.12404G>A (p.Arg4135His) rs764202302 0.00001
NM_001035.3(RYR2):c.12497A>G (p.Lys4166Arg) rs1450189858 0.00001
NM_001035.3(RYR2):c.1250G>A (p.Arg417Gln) rs751428303 0.00001
NM_001035.3(RYR2):c.12639G>C (p.Glu4213Asp) rs1695374375 0.00001
NM_001035.3(RYR2):c.12692C>T (p.Pro4231Leu) rs1321340277 0.00001
NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr) rs773317989 0.00001
NM_001035.3(RYR2):c.12767T>C (p.Met4256Thr) rs530277653 0.00001
NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln) rs371396204 0.00001
NM_001035.3(RYR2):c.12820A>T (p.Met4274Leu) rs1304617213 0.00001
NM_001035.3(RYR2):c.12826G>A (p.Val4276Met) rs368599791 0.00001
NM_001035.3(RYR2):c.1284A>T (p.Arg428Ser) rs777771262 0.00001
NM_001035.3(RYR2):c.12860A>G (p.Tyr4287Cys) rs1422123208 0.00001
NM_001035.3(RYR2):c.12887A>C (p.His4296Pro) rs1695398009 0.00001
NM_001035.3(RYR2):c.12913T>C (p.Phe4305Leu) rs1477602829 0.00001
NM_001035.3(RYR2):c.12994G>A (p.Ala4332Thr) rs1695407325 0.00001
NM_001035.3(RYR2):c.13079C>T (p.Ser4360Phe) rs982384666 0.00001
NM_001035.3(RYR2):c.13081G>A (p.Glu4361Lys) rs794728795 0.00001
NM_001035.3(RYR2):c.13088T>C (p.Leu4363Pro) rs762239413 0.00001
NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn) rs372880584 0.00001
NM_001035.3(RYR2):c.13103A>G (p.Glu4368Gly) rs1483523927 0.00001
NM_001035.3(RYR2):c.13198G>T (p.Ala4400Ser) rs750662333 0.00001
NM_001035.3(RYR2):c.13216A>T (p.Met4406Leu) rs1328615953 0.00001
NM_001035.3(RYR2):c.13283A>G (p.Glu4428Gly) rs1254605642 0.00001
NM_001035.3(RYR2):c.13351G>A (p.Glu4451Lys) rs780734342 0.00001
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg) rs747584325 0.00001
NM_001035.3(RYR2):c.13379A>G (p.Gln4460Arg) rs762879895 0.00001
NM_001035.3(RYR2):c.13405A>G (p.Arg4469Gly) rs367809296 0.00001
NM_001035.3(RYR2):c.13423G>A (p.Val4475Met) rs1275899087 0.00001
NM_001035.3(RYR2):c.13457C>G (p.Ala4486Gly) rs779309213 0.00001
NM_001035.3(RYR2):c.1346T>G (p.Ile449Arg) rs373331669 0.00001
NM_001035.3(RYR2):c.13476+6A>G rs1457866950 0.00001
NM_001035.3(RYR2):c.13504A>C (p.Met4502Leu) rs876657985 0.00001
NM_001035.3(RYR2):c.13526T>C (p.Val4509Ala) rs1209033509 0.00001
NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg) rs778498741 0.00001
NM_001035.3(RYR2):c.13624G>A (p.Ala4542Thr) rs1296705206 0.00001
NM_001035.3(RYR2):c.13655A>G (p.His4552Arg) rs768299786 0.00001
NM_001035.3(RYR2):c.13661T>C (p.Ile4554Thr) rs1234650666 0.00001
NM_001035.3(RYR2):c.13696G>A (p.Gly4566Ser) rs767716570 0.00001
NM_001035.3(RYR2):c.13976A>G (p.Glu4659Gly) rs749030677 0.00001
NM_001035.3(RYR2):c.1397C>A (p.Pro466Gln) rs967199869 0.00001
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser) rs886039213 0.00001
NM_001035.3(RYR2):c.14024C>A (p.Ala4675Glu) rs1172831046 0.00001
NM_001035.3(RYR2):c.1403A>G (p.Glu468Gly) rs1282053556 0.00001
NM_001035.3(RYR2):c.14041G>A (p.Asp4681Asn) rs1478475074 0.00001
NM_001035.3(RYR2):c.14066A>G (p.Lys4689Arg) rs1085307711 0.00001
NM_001035.3(RYR2):c.14098T>G (p.Ser4700Ala) rs766629125 0.00001
NM_001035.3(RYR2):c.14151+1G>A rs745576995 0.00001
NM_001035.3(RYR2):c.14151C>T (p.Asn4717=) rs1479892874 0.00001
NM_001035.3(RYR2):c.14152-3T>C rs376797615 0.00001
NM_001035.3(RYR2):c.1424A>G (p.Lys475Arg) rs750510651 0.00001
NM_001035.3(RYR2):c.14302G>A (p.Val4768Ile) rs775534249 0.00001
NM_001035.3(RYR2):c.14344A>G (p.Thr4782Ala) rs762305687 0.00001
NM_001035.3(RYR2):c.14369G>A (p.Arg4790Gln) rs750780758 0.00001
NM_001035.3(RYR2):c.14422G>A (p.Asp4808Asn) rs777414943 0.00001
NM_001035.3(RYR2):c.1476+5G>A rs778668388 0.00001
NM_001035.3(RYR2):c.14841G>T (p.Arg4947Ser) rs1252294768 0.00001
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser) rs758500988 0.00001
NM_001035.3(RYR2):c.1492G>A (p.Val498Met) rs760100468 0.00001
NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu) rs764532025 0.00001
NM_001035.3(RYR2):c.1517A>T (p.His506Leu) rs1476195040 0.00001
NM_001035.3(RYR2):c.1526G>A (p.Ser509Asn) rs1558850631 0.00001
NM_001035.3(RYR2):c.1537C>G (p.His513Asp) rs1230792928 0.00001
NM_001035.3(RYR2):c.1559G>A (p.Arg520Gln) rs564957172 0.00001
NM_001035.3(RYR2):c.1573T>G (p.Ser525Ala) rs1207389001 0.00001
NM_001035.3(RYR2):c.1698A>C (p.Glu566Asp) rs1397154786 0.00001
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro) rs753758467 0.00001
NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu) rs794728724 0.00001
NM_001035.3(RYR2):c.1843T>G (p.Cys615Gly) rs1055900110 0.00001
NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg) rs376243998 0.00001
NM_001035.3(RYR2):c.1903A>C (p.Asn635His) rs768241033 0.00001
NM_001035.3(RYR2):c.1909C>A (p.Leu637Ile) rs1159892117 0.00001
NM_001035.3(RYR2):c.1927T>A (p.Leu643Ile) rs368918887 0.00001
NM_001035.3(RYR2):c.1951C>T (p.His651Tyr) rs759839219 0.00001
NM_001035.3(RYR2):c.1963A>T (p.Met655Leu) rs1664091653 0.00001
NM_001035.3(RYR2):c.1976T>G (p.Ile659Ser) rs753013388 0.00001
NM_001035.3(RYR2):c.2050C>A (p.Pro684Thr) rs1553473182 0.00001
NM_001035.3(RYR2):c.2081G>A (p.Arg694Gln) rs190787113 0.00001
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys) rs748762074 0.00001
NM_001035.3(RYR2):c.2121T>A (p.Pro707=) rs1004858931 0.00001
NM_001035.3(RYR2):c.2125G>T (p.Gly709Trp) rs775143324 0.00001
NM_001035.3(RYR2):c.2131G>A (p.Glu711Lys) rs1470689668 0.00001
NM_001035.3(RYR2):c.2146A>G (p.Asn716Asp) rs1395171532 0.00001
NM_001035.3(RYR2):c.2174A>G (p.Tyr725Cys) rs776700027 0.00001
NM_001035.3(RYR2):c.2203+3_2203+4dup rs730880376 0.00001
NM_001035.3(RYR2):c.2215C>T (p.Arg739Cys) rs1170501862 0.00001
NM_001035.3(RYR2):c.2216G>A (p.Arg739His) rs955065308 0.00001
NM_001035.3(RYR2):c.2260G>T (p.Val754Phe) rs376923538 0.00001
NM_001035.3(RYR2):c.226C>T (p.Arg76Trp) rs542777295 0.00001
NM_001035.3(RYR2):c.2300C>T (p.Ser767Leu) rs749979131 0.00001
NM_001035.3(RYR2):c.2306G>A (p.Arg769Gln) rs754901791 0.00001
NM_001035.3(RYR2):c.2320C>A (p.Pro774Thr) rs780965490 0.00001
NM_001035.3(RYR2):c.2323G>A (p.Val775Ile) rs747893832 0.00001
NM_001035.3(RYR2):c.2350A>T (p.Ile784Phe) rs794728729 0.00001
NM_001035.3(RYR2):c.2354A>G (p.Asp785Gly) rs1572613741 0.00001
NM_001035.3(RYR2):c.2364C>A (p.Phe788Leu) rs776018906 0.00001
NM_001035.3(RYR2):c.2394A>G (p.Ile798Met) rs192876953 0.00001
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu) rs371157868 0.00001
NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg) rs1227019047 0.00001
NM_001035.3(RYR2):c.2420G>A (p.Arg807Gln) rs753611255 0.00001
NM_001035.3(RYR2):c.2423A>G (p.His808Arg) rs757443712 0.00001
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) rs537596448 0.00001
NM_001035.3(RYR2):c.2542C>T (p.Arg848Cys) rs765102386 0.00001
NM_001035.3(RYR2):c.2543G>A (p.Arg848His) rs1247047478 0.00001
NM_001035.3(RYR2):c.256G>A (p.Val86Met) rs1217618479 0.00001
NM_001035.3(RYR2):c.2603A>G (p.Asp868Gly) rs1272250863 0.00001
NM_001035.3(RYR2):c.2650A>G (p.Lys884Glu) rs767642846 0.00001
NM_001035.3(RYR2):c.2663A>G (p.Asn888Ser) rs1289969599 0.00001
NM_001035.3(RYR2):c.2707C>A (p.Gln903Lys) rs1458382114 0.00001
NM_001035.3(RYR2):c.2773C>T (p.Pro925Ser) rs1023177526 0.00001
NM_001035.3(RYR2):c.2786G>A (p.Arg929His) rs876657988 0.00001
NM_001035.3(RYR2):c.284T>A (p.Val95Glu) rs900519025 0.00001
NM_001035.3(RYR2):c.2863G>A (p.Glu955Lys) rs745798722 0.00001
NM_001035.3(RYR2):c.2904G>C (p.Lys968Asn) rs768807940 0.00001
NM_001035.3(RYR2):c.2907T>C (p.Asn969=) rs763800107 0.00001
NM_001035.3(RYR2):c.2941A>G (p.Met981Val) rs768893657 0.00001
NM_001035.3(RYR2):c.2945A>G (p.Asp982Gly) rs1461569961 0.00001
NM_001035.3(RYR2):c.2960A>C (p.Lys987Thr) rs1294571823 0.00001
NM_001035.3(RYR2):c.2969C>T (p.Pro990Leu) rs912594681 0.00001
NM_001035.3(RYR2):c.2978A>G (p.Glu993Gly) rs760019189 0.00001
NM_001035.3(RYR2):c.2984T>C (p.Met995Thr) rs1009381849 0.00001
NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln) rs754812132 0.00001
NM_001035.3(RYR2):c.3037C>T (p.Arg1013Trp) rs777740439 0.00001
NM_001035.3(RYR2):c.3070G>T (p.Val1024Leu) rs1291873158 0.00001
NM_001035.3(RYR2):c.3089C>T (p.Pro1030Leu) rs1404965456 0.00001
NM_001035.3(RYR2):c.3142G>A (p.Asp1048Asn) rs1384422533 0.00001
NM_001035.3(RYR2):c.3154G>A (p.Glu1052Lys) rs1271333166 0.00001
NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met) rs779146564 0.00001
NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser) rs747447414 0.00001
NM_001035.3(RYR2):c.3220A>G (p.Arg1074Gly) rs1559038380 0.00001
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg) rs774797663 0.00001
NM_001035.3(RYR2):c.326G>C (p.Gly109Ala) rs1572014527 0.00001
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys) rs730880191 0.00001
NM_001035.3(RYR2):c.3295G>A (p.Gly1099Arg) rs767849564 0.00001
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser) rs886046265 0.00001
NM_001035.3(RYR2):c.340C>G (p.Leu114Val) rs759271857 0.00001
NM_001035.3(RYR2):c.3431G>A (p.Arg1144Gln) rs193125030 0.00001
NM_001035.3(RYR2):c.3506A>G (p.Asn1169Ser) rs979486756 0.00001
NM_001035.3(RYR2):c.3514A>T (p.Thr1172Ser) rs760782284 0.00001
NM_001035.3(RYR2):c.3517A>G (p.Met1173Val) rs762372863 0.00001
NM_001035.3(RYR2):c.3610G>A (p.Val1204Met) rs1435421903 0.00001
NM_001035.3(RYR2):c.3638G>C (p.Gly1213Ala) rs766838912 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001035.3(RYR2):c.3674A>C (p.Lys1225Thr) rs1185398824 0.00001
NM_001035.3(RYR2):c.3677A>G (p.Tyr1226Cys) rs371124046 0.00001
NM_001035.3(RYR2):c.3707A>G (p.Tyr1236Cys) rs1421115838 0.00001
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu) rs773915323 0.00001
NM_001035.3(RYR2):c.3805G>C (p.Glu1269Gln) rs763766154 0.00001
NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser) rs769294223 0.00001
NM_001035.3(RYR2):c.3839C>T (p.Ser1280Phe) rs759424061 0.00001
NM_001035.3(RYR2):c.3844T>C (p.Cys1282Arg) rs1057518304 0.00001
NM_001035.3(RYR2):c.3894T>G (p.Asp1298Glu) rs1383564773 0.00001
NM_001035.3(RYR2):c.3899T>C (p.Met1300Thr) rs772739688 0.00001
NM_001035.3(RYR2):c.3920C>T (p.Pro1307Leu) rs1412253468 0.00001
NM_001035.3(RYR2):c.3931G>A (p.Ala1311Thr) rs368635274 0.00001
NM_001035.3(RYR2):c.3955G>A (p.Ala1319Thr) rs376526841 0.00001
NM_001035.3(RYR2):c.3958G>A (p.Gly1320Arg) rs1264658238 0.00001
NM_001035.3(RYR2):c.3964C>T (p.Leu1322Phe) rs770433289 0.00001
NM_001035.3(RYR2):c.3973G>C (p.Ala1325Pro) rs1043523829 0.00001
NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys) rs765369749 0.00001
NM_001035.3(RYR2):c.401C>G (p.Ser134Cys) rs768757680 0.00001
NM_001035.3(RYR2):c.4020T>A (p.Asp1340Glu) rs1040456396 0.00001
NM_001035.3(RYR2):c.4078G>A (p.Asp1360Asn) rs1274140033 0.00001
NM_001035.3(RYR2):c.409C>T (p.Arg137Trp) rs761916230 0.00001
NM_001035.3(RYR2):c.4121A>G (p.Lys1374Arg) rs1675089718 0.00001
NM_001035.3(RYR2):c.412T>G (p.Ser138Ala) rs765875891 0.00001
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln) rs727504850 0.00001
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met) rs761181641 0.00001
NM_001035.3(RYR2):c.4280A>G (p.Tyr1427Cys) rs1427196403 0.00001
NM_001035.3(RYR2):c.4366G>A (p.Gly1456Ser) rs1265113691 0.00001
NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys) rs1353376223 0.00001
NM_001035.3(RYR2):c.4498C>T (p.Arg1500Cys) rs778394498 0.00001
NM_001035.3(RYR2):c.4507A>G (p.Asn1503Asp) rs794728736 0.00001
NM_001035.3(RYR2):c.4538C>T (p.Ala1513Val) rs895086218 0.00001
NM_001035.3(RYR2):c.4666G>A (p.Glu1556Lys) rs1048532590 0.00001
NM_001035.3(RYR2):c.4677A>T (p.Arg1559Ser) rs756330224 0.00001
NM_001035.3(RYR2):c.4700C>T (p.Ser1567Leu) rs772008541 0.00001
NM_001035.3(RYR2):c.4723C>T (p.His1575Tyr) rs397516535 0.00001
NM_001035.3(RYR2):c.4732C>T (p.Pro1578Ser) rs761852488 0.00001
NM_001035.3(RYR2):c.4753C>T (p.Arg1585Cys) rs528206995 0.00001
NM_001035.3(RYR2):c.4754G>A (p.Arg1585His) rs1392451418 0.00001
NM_001035.3(RYR2):c.4793G>A (p.Arg1598Lys) rs1056392680 0.00001
NM_001035.3(RYR2):c.4828C>T (p.Arg1610Ter) rs794728738 0.00001
NM_001035.3(RYR2):c.4831A>G (p.Ile1611Val) rs755572625 0.00001
NM_001035.3(RYR2):c.4840C>T (p.Arg1614Cys) rs373079767 0.00001
NM_001035.3(RYR2):c.4841G>A (p.Arg1614His) rs746943081 0.00001
NM_001035.3(RYR2):c.4847G>A (p.Gly1616Asp) rs1295709441 0.00001
NM_001035.3(RYR2):c.4882A>G (p.Met1628Val) rs757286828 0.00001
NM_001035.3(RYR2):c.4911A>G (p.Arg1637=) rs1251055364 0.00001
NM_001035.3(RYR2):c.4950G>C (p.Leu1650Phe) rs376251968 0.00001
NM_001035.3(RYR2):c.5056C>T (p.Leu1686Phe) rs752684338 0.00001
NM_001035.3(RYR2):c.505C>T (p.Arg169Ter) rs749930577 0.00001
NM_001035.3(RYR2):c.5102G>C (p.Gly1701Ala) rs750602360 0.00001
NM_001035.3(RYR2):c.5198C>T (p.Thr1733Met) rs750668049 0.00001
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr) rs397516542 0.00001
NM_001035.3(RYR2):c.5363A>C (p.Lys1788Thr) rs779637196 0.00001
NM_001035.3(RYR2):c.5404G>A (p.Gly1802Ser) rs773181830 0.00001
NM_001035.3(RYR2):c.5406C>T (p.Gly1802=) rs1553522322 0.00001
NM_001035.3(RYR2):c.5411T>C (p.Leu1804Pro) rs1411508789 0.00001
NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr) rs767728159 0.00001
NM_001035.3(RYR2):c.5419C>T (p.Arg1807Trp) rs752863160 0.00001
NM_001035.3(RYR2):c.5542C>T (p.Pro1848Ser) rs760731968 0.00001
NM_001035.3(RYR2):c.5590C>A (p.Leu1864Met) rs1202498329 0.00001
NM_001035.3(RYR2):c.569G>A (p.Arg190Lys) rs1237664259 0.00001
NM_001035.3(RYR2):c.5717T>C (p.Met1906Thr) rs748307254 0.00001
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp) rs771469528 0.00001
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu) rs368669045 0.00001
NM_001035.3(RYR2):c.5949A>C (p.Lys1983Asn) rs1181887323 0.00001
NM_001035.3(RYR2):c.5978G>A (p.Arg1993His) rs551362343 0.00001
NM_001035.3(RYR2):c.6079G>A (p.Gly2027Arg) rs1226663873 0.00001
NM_001035.3(RYR2):c.6140C>T (p.Pro2047Leu) rs1464384648 0.00001
NM_001035.3(RYR2):c.6166+10A>G rs776614601 0.00001
NM_001035.3(RYR2):c.6167-3C>T rs1327145604 0.00001
NM_001035.3(RYR2):c.616G>A (p.Ala206Thr) rs930769080 0.00001
NM_001035.3(RYR2):c.6185T>C (p.Ile2062Thr) rs750073486 0.00001
NM_001035.3(RYR2):c.6203G>A (p.Arg2068Gln) rs869025512 0.00001
NM_001035.3(RYR2):c.6230A>G (p.Asp2077Gly) rs1415188748 0.00001
NM_001035.3(RYR2):c.6265C>T (p.His2089Tyr) rs1057524513 0.00001
NM_001035.3(RYR2):c.6269G>A (p.Arg2090Gln) rs1379845021 0.00001
NM_001035.3(RYR2):c.6431G>A (p.Arg2144His) rs1243083109 0.00001
NM_001035.3(RYR2):c.6443A>T (p.Asp2148Val) rs1375995287 0.00001
NM_001035.3(RYR2):c.6519G>T (p.Glu2173Asp) rs368920731 0.00001
NM_001035.3(RYR2):c.6773G>A (p.Arg2258His) rs779289104 0.00001
NM_001035.3(RYR2):c.6779C>T (p.Pro2260Leu) rs746319435 0.00001
NM_001035.3(RYR2):c.6811G>A (p.Gly2271Ser) rs375371340 0.00001
NM_001035.3(RYR2):c.6862A>G (p.Ile2288Val) rs1228663009 0.00001
NM_001035.3(RYR2):c.6952A>G (p.Asn2318Asp) rs1006334960 0.00001
NM_001035.3(RYR2):c.6976C>T (p.Arg2326Trp) rs1207293121 0.00001
NM_001035.3(RYR2):c.6997C>A (p.Pro2333Thr) rs370137005 0.00001
NM_001035.3(RYR2):c.7040T>C (p.Met2347Thr) rs1177415020 0.00001
NM_001035.3(RYR2):c.7055A>G (p.Lys2352Arg) rs1378161090 0.00001
NM_001035.3(RYR2):c.7057A>G (p.Ile2353Val) rs375356774 0.00001
NM_001035.3(RYR2):c.7117G>T (p.Asp2373Tyr) rs397516548 0.00001
NM_001035.3(RYR2):c.7220A>C (p.His2407Pro) rs1197580766 0.00001
NM_001035.3(RYR2):c.7234G>A (p.Gly2412Arg) rs550534270 0.00001
NM_001035.3(RYR2):c.7373C>T (p.Ala2458Val) rs768478443 0.00001
NM_001035.3(RYR2):c.737C>T (p.Thr246Ile) rs757478498 0.00001
NM_001035.3(RYR2):c.7512G>A (p.Thr2504=) rs1682411061 0.00001
NM_001035.3(RYR2):c.7528A>G (p.Thr2510Ala) rs777279244 0.00001
NM_001035.3(RYR2):c.7550A>G (p.Asn2517Ser) rs1314129285 0.00001
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile) rs934248102 0.00001
NM_001035.3(RYR2):c.7621C>A (p.His2541Asn) rs763814352 0.00001
NM_001035.3(RYR2):c.7654G>A (p.Val2552Met) rs746822781 0.00001
NM_001035.3(RYR2):c.7658A>G (p.Tyr2553Cys) rs1358268703 0.00001
NM_001035.3(RYR2):c.7696C>T (p.Arg2566Trp) rs773475551 0.00001
NM_001035.3(RYR2):c.769C>T (p.Arg257Trp) rs750477551 0.00001
NM_001035.3(RYR2):c.7733+3G>A rs1014182598 0.00001
NM_001035.3(RYR2):c.7750A>G (p.Met2584Val) rs772541555 0.00001
NM_001035.3(RYR2):c.7936T>A (p.Trp2646Arg) rs769118599 0.00001
NM_001035.3(RYR2):c.7940G>A (p.Gly2647Asp) rs776908944 0.00001
NM_001035.3(RYR2):c.7955T>A (p.Leu2652Gln) rs748531950 0.00001
NM_001035.3(RYR2):c.7955T>C (p.Leu2652Pro) rs748531950 0.00001
NM_001035.3(RYR2):c.8027T>C (p.Leu2676Ser) rs1338788038 0.00001
NM_001035.3(RYR2):c.8063T>A (p.Met2688Lys) rs1257768473 0.00001
NM_001035.3(RYR2):c.8075A>G (p.Gln2692Arg) rs370072276 0.00001
NM_001035.3(RYR2):c.8083A>G (p.Met2695Val) rs886959086 0.00001
NM_001035.3(RYR2):c.808C>T (p.His270Tyr) rs745558219 0.00001
NM_001035.3(RYR2):c.8107C>A (p.Pro2703Thr) rs763186606 0.00001
NM_001035.3(RYR2):c.8143G>A (p.Glu2715Lys) rs756472432 0.00001
NM_001035.3(RYR2):c.8228A>G (p.Tyr2743Cys) rs368952500 0.00001
NM_001035.3(RYR2):c.8269A>G (p.Met2757Val) rs376015452 0.00001
NM_001035.3(RYR2):c.8298+5G>A rs773129405 0.00001
NM_001035.3(RYR2):c.8298+6G>C rs915760671 0.00001
NM_001035.3(RYR2):c.8310T>G (p.Ile2770Met) rs974847063 0.00001
NM_001035.3(RYR2):c.8314C>T (p.Arg2772Cys) rs754379518 0.00001
NM_001035.3(RYR2):c.836C>T (p.Thr279Met) rs754312807 0.00001
NM_001035.3(RYR2):c.8377C>T (p.Arg2793Trp) rs373172640 0.00001
NM_001035.3(RYR2):c.8392A>T (p.Met2798Leu) rs1275797500 0.00001
NM_001035.3(RYR2):c.8414G>A (p.Arg2805His) rs1247067433 0.00001
NM_001035.3(RYR2):c.8417G>A (p.Arg2806His) rs955927781 0.00001
NM_001035.3(RYR2):c.8434C>G (p.Gln2812Glu) rs377285717 0.00001
NM_001035.3(RYR2):c.848+1G>A rs772984053 0.00001
NM_001035.3(RYR2):c.8482A>C (p.Met2828Leu) rs948094250 0.00001
NM_001035.3(RYR2):c.8486G>A (p.Ser2829Asn) rs752268870 0.00001
NM_001035.3(RYR2):c.848C>T (p.Ala283Val) rs1163526442 0.00001
NM_001035.3(RYR2):c.849-10T>C rs771173251 0.00001
NM_001035.3(RYR2):c.849-12del rs765156667 0.00001
NM_001035.3(RYR2):c.8606C>T (p.Pro2869Leu) rs374318917 0.00001
NM_001035.3(RYR2):c.8621A>G (p.Tyr2874Cys) rs1481998485 0.00001
NM_001035.3(RYR2):c.8681A>G (p.Lys2894Arg) rs1374749880 0.00001
NM_001035.3(RYR2):c.8791C>T (p.Arg2931Cys) rs777983238 0.00001
NM_001035.3(RYR2):c.881C>T (p.Pro294Leu) rs750542606 0.00001
NM_001035.3(RYR2):c.893G>A (p.Arg298His) rs754259295 0.00001
NM_001035.3(RYR2):c.8956G>A (p.Ala2986Thr) rs745482544 0.00001
NM_001035.3(RYR2):c.8993A>G (p.Asn2998Ser) rs1243409978 0.00001
NM_001035.3(RYR2):c.9050A>G (p.His3017Arg) rs777560001 0.00001
NM_001035.3(RYR2):c.9052A>G (p.Arg3018Gly) rs748968052 0.00001
NM_001035.3(RYR2):c.9138G>A (p.Met3046Ile) rs867521152 0.00001
NM_001035.3(RYR2):c.916T>G (p.Leu306Val) rs1159486360 0.00001
NM_001035.3(RYR2):c.9329A>C (p.Glu3110Ala) rs1419674808 0.00001
NM_001035.3(RYR2):c.9367+3A>G rs767212566 0.00001
NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn) rs748194372 0.00001
NM_001035.3(RYR2):c.9425C>A (p.Thr3142Asn) rs1299273877 0.00001
NM_001035.3(RYR2):c.9449+3A>G rs1688012992 0.00001
NM_001035.3(RYR2):c.9454C>T (p.Arg3152Cys) rs181105904 0.00001
NM_001035.3(RYR2):c.9506C>T (p.Ala3169Val) rs1411593172 0.00001
NM_001035.3(RYR2):c.9551A>G (p.Tyr3184Cys) rs772804208 0.00001
NM_001035.3(RYR2):c.95A>C (p.Gln32Pro) rs909314611 0.00001
NM_001035.3(RYR2):c.9625C>A (p.Pro3209Thr) rs767375014 0.00001
NM_001035.3(RYR2):c.9626C>T (p.Pro3209Leu) rs956317332 0.00001
NM_001035.3(RYR2):c.9669G>C (p.Glu3223Asp) rs377626309 0.00001
NM_001035.3(RYR2):c.9680G>A (p.Arg3227His) rs755897867 0.00001
NM_001035.3(RYR2):c.9686C>T (p.Thr3229Ile) rs1688441480 0.00001
NM_001035.3(RYR2):c.9691A>G (p.Met3231Val) rs374899980 0.00001
NM_001035.3(RYR2):c.9692T>C (p.Met3231Thr) rs1472732790 0.00001
NM_001035.3(RYR2):c.9703A>G (p.Met3235Val) rs773957909 0.00001
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys) rs1290534109 0.00001
NM_001035.3(RYR2):c.9772C>T (p.Pro3258Ser) rs368028300 0.00001
NM_001035.3(RYR2):c.9779G>A (p.Arg3260Gln) rs750415021 0.00001
NM_001035.3(RYR2):c.985T>C (p.Phe329Leu) rs911638241 0.00001
NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val) rs1209752961 0.00001
NM_001035.3(RYR2):c.9874G>A (p.Glu3292Lys) rs553445235 0.00001
NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg) rs794728766 0.00001
NM_001035.3(RYR2):c.994C>T (p.Arg332Trp) rs876657995 0.00001
NM_001035.3(RYR2):c.995G>A (p.Arg332Gln) rs1558793119 0.00001
NM_001035.3(RYR2):c.9962C>T (p.Pro3321Leu) rs747933306 0.00001
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met) rs774437805 0.00001
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) rs200899037 0.00001
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg) rs375811174 0.00001
NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val) rs940257382 0.00001
NM_001232.4(CASQ2):c.1150A>G (p.Asn384Asp) rs772619751 0.00001
NM_001232.4(CASQ2):c.128A>G (p.Lys43Arg) rs1163471411 0.00001
NM_001232.4(CASQ2):c.133G>T (p.Val45Phe) rs746405346 0.00001
NM_001232.4(CASQ2):c.172G>A (p.Glu58Lys) rs376824588 0.00001
NM_001232.4(CASQ2):c.210C>G (p.Phe70Leu) rs774492523 0.00001
NM_001232.4(CASQ2):c.227T>C (p.Val76Ala) rs1649199632 0.00001
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe) rs781778467 0.00001
NM_001232.4(CASQ2):c.257A>G (p.His86Arg) rs372587044 0.00001
NM_001232.4(CASQ2):c.281T>C (p.Val94Ala) rs755766840 0.00001
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu) rs750159744 0.00001
NM_001232.4(CASQ2):c.361C>T (p.Arg121Cys) rs570840019 0.00001
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu) rs762328417 0.00001
NM_001232.4(CASQ2):c.449G>T (p.Ser150Ile) rs772041539 0.00001
NM_001232.4(CASQ2):c.469G>C (p.Ala157Pro) rs779063209 0.00001
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr) rs151201435 0.00001
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) rs786205790 0.00001
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn) rs758082383 0.00001
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val) rs772419873 0.00001
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) rs1230753325 0.00001
NM_001232.4(CASQ2):c.862C>G (p.Leu288Val) rs772096506 0.00001
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp) rs201306936 0.00001
NM_001232.4(CASQ2):c.884A>G (p.Asn295Ser) rs781565627 0.00001
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr) rs369403991 0.00001
NM_001943.5(DSG2):c.1000G>A (p.Val334Met) rs761360851 0.00001
NM_001943.5(DSG2):c.1013A>T (p.Lys338Met) rs1454000095 0.00001
NM_001943.5(DSG2):c.1045G>A (p.Asp349Asn) rs754281384 0.00001
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946 0.00001
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) rs727505208 0.00001
NM_001943.5(DSG2):c.1106A>T (p.Lys369Met) rs375740419 0.00001
NM_001943.5(DSG2):c.1109C>G (p.Pro370Arg) rs1555627121 0.00001
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys) rs369214871 0.00001
NM_001943.5(DSG2):c.1281A>T (p.Arg427Ser) rs370547219 0.00001
NM_001943.5(DSG2):c.128A>G (p.His43Arg) rs370922106 0.00001
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser) rs540113579 0.00001
NM_001943.5(DSG2):c.1304A>G (p.Asp435Gly) rs767684377 0.00001
NM_001943.5(DSG2):c.1308T>A (p.Asn436Lys) rs1163162410 0.00001
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile) rs1598819592 0.00001
NM_001943.5(DSG2):c.1441A>G (p.Ile481Val) rs368419383 0.00001
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys) rs762526848 0.00001
NM_001943.5(DSG2):c.1460T>G (p.Ile487Ser) rs776525113 0.00001
NM_001943.5(DSG2):c.1466T>C (p.Val489Ala) rs748619993 0.00001
NM_001943.5(DSG2):c.1484A>G (p.Asn495Ser) rs1343972091 0.00001
NM_001943.5(DSG2):c.1489C>A (p.Pro497Thr) rs1293179210 0.00001
NM_001943.5(DSG2):c.1499T>C (p.Ile500Thr) rs769741655 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn) rs753406968 0.00001
NM_001943.5(DSG2):c.1537G>A (p.Val513Met) rs1325342385 0.00001
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly) rs730880077 0.00001
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060 0.00001
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr) rs549421694 0.00001
NM_001943.5(DSG2):c.1612C>T (p.Pro538Ser) rs766053352 0.00001
NM_001943.5(DSG2):c.1622C>G (p.Ala541Gly) rs764745535 0.00001
NM_001943.5(DSG2):c.1624G>C (p.Glu542Gln) rs376784940 0.00001
NM_001943.5(DSG2):c.1633A>C (p.Lys545Gln) rs544175105 0.00001
NM_001943.5(DSG2):c.164C>T (p.Pro55Leu) rs748684045 0.00001
NM_001943.5(DSG2):c.1652-5T>A rs750711733 0.00001
NM_001943.5(DSG2):c.1754T>G (p.Val585Gly) rs1226887053 0.00001
NM_001943.5(DSG2):c.176G>A (p.Arg59Gln) rs768794560 0.00001
NM_001943.5(DSG2):c.1784A>G (p.His595Arg) rs371326860 0.00001
NM_001943.5(DSG2):c.1814A>T (p.Asp605Val) rs761157959 0.00001
NM_001943.5(DSG2):c.1826G>T (p.Gly609Val) rs754168863 0.00001
NM_001943.5(DSG2):c.1829T>C (p.Leu610Pro) rs755196345 0.00001
NM_001943.5(DSG2):c.1831G>A (p.Gly611Arg) rs779056577 0.00001
NM_001943.5(DSG2):c.1843A>G (p.Ile615Val) rs794728087 0.00001
NM_001943.5(DSG2):c.1880-3C>T rs2073264462 0.00001
NM_001943.5(DSG2):c.1921G>A (p.Ala641Thr) rs1445203397 0.00001
NM_001943.5(DSG2):c.1957A>T (p.Met653Leu) rs1382682032 0.00001
NM_001943.5(DSG2):c.1996G>C (p.Asp666His) rs771623047 0.00001
NM_001943.5(DSG2):c.2001+3C>G rs746471051 0.00001
NM_001943.5(DSG2):c.2068A>G (p.Met690Val) rs1453554024 0.00001
NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu) rs997161591 0.00001
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val) rs141388237 0.00001
NM_001943.5(DSG2):c.2111T>C (p.Ile704Thr) rs759420598 0.00001
NM_001943.5(DSG2):c.2203G>A (p.Ala735Thr) rs1179912383 0.00001
NM_001943.5(DSG2):c.2215A>G (p.Ile739Val) rs772240008 0.00001
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) rs727502989 0.00001
NM_001943.5(DSG2):c.233C>A (p.Ala78Glu) rs769649528 0.00001
NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys) rs794728090 0.00001
NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro) rs1384172051 0.00001
NM_001943.5(DSG2):c.2491C>T (p.Leu831Phe) rs763547599 0.00001
NM_001943.5(DSG2):c.2498T>G (p.Phe833Cys) rs2073302543 0.00001
NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp) rs374177723 0.00001
NM_001943.5(DSG2):c.2534T>C (p.Ile845Thr) rs1303479214 0.00001
NM_001943.5(DSG2):c.2558A>G (p.Gln853Arg) rs1567934468 0.00001
NM_001943.5(DSG2):c.2589G>A (p.Met863Ile) rs375955157 0.00001
NM_001943.5(DSG2):c.2614G>C (p.Glu872Gln) rs754057911 0.00001
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile) rs760786694 0.00001
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe) rs371498622 0.00001
NM_001943.5(DSG2):c.2681T>G (p.Leu894Trp) rs759746836 0.00001
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp) rs765238150 0.00001
NM_001943.5(DSG2):c.2710C>G (p.Gln904Glu) rs372335085 0.00001
NM_001943.5(DSG2):c.2713G>A (p.Glu905Lys) rs1156468696 0.00001
NM_001943.5(DSG2):c.2716A>G (p.Ile906Val) rs748894535 0.00001
NM_001943.5(DSG2):c.2729G>T (p.Arg910Ile) rs778488673 0.00001
NM_001943.5(DSG2):c.2741C>G (p.Ser914Cys) rs771214695 0.00001
NM_001943.5(DSG2):c.2753A>G (p.Gln918Arg) rs1367277603 0.00001
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg) rs1408093009 0.00001
NM_001943.5(DSG2):c.2797G>A (p.Val933Met) rs373055076 0.00001
NM_001943.5(DSG2):c.2807C>T (p.Thr936Ile) rs1221413592 0.00001
NM_001943.5(DSG2):c.2813C>A (p.Thr938Asn) rs919875624 0.00001
NM_001943.5(DSG2):c.287A>T (p.Glu96Val) rs2073123571 0.00001
NM_001943.5(DSG2):c.2908C>T (p.Pro970Ser) rs758058872 0.00001
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile) rs749540432 0.00001
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr) rs1275376903 0.00001
NM_001943.5(DSG2):c.2987G>A (p.Gly996Glu) rs1567934945 0.00001
NM_001943.5(DSG2):c.298G>C (p.Gly100Arg) rs754405184 0.00001
NM_001943.5(DSG2):c.3013A>G (p.Thr1005Ala) rs1386679487 0.00001
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr) rs886053716 0.00001
NM_001943.5(DSG2):c.3086T>C (p.Val1029Ala) rs769806198 0.00001
NM_001943.5(DSG2):c.308T>C (p.Val103Ala) rs876657790 0.00001
NM_001943.5(DSG2):c.3101C>T (p.Ala1034Val) rs762885186 0.00001
NM_001943.5(DSG2):c.3137T>C (p.Val1046Ala) rs2073312094 0.00001
NM_001943.5(DSG2):c.3205A>G (p.Met1069Val) rs1024370144 0.00001
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met) rs943749481 0.00001
NM_001943.5(DSG2):c.3340C>G (p.Gln1114Glu) rs776078563 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.445G>A (p.Val149Ile) rs372606274 0.00001
NM_001943.5(DSG2):c.458A>G (p.Asn153Ser) rs375597675 0.00001
NM_001943.5(DSG2):c.46-3C>T rs777302616 0.00001
NM_001943.5(DSG2):c.466G>A (p.Glu156Lys) rs566251077 0.00001
NM_001943.5(DSG2):c.46A>G (p.Ile16Val) rs376660601 0.00001
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu) rs587782938 0.00001
NM_001943.5(DSG2):c.536T>C (p.Met179Thr) rs753854046 0.00001
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) rs763948986 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001943.5(DSG2):c.58G>A (p.Val20Ile) rs746192055 0.00001
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser) rs200946320 0.00001
NM_001943.5(DSG2):c.653G>A (p.Gly218Glu) rs794728082 0.00001
NM_001943.5(DSG2):c.677C>T (p.Thr226Ile) rs751490881 0.00001
NM_001943.5(DSG2):c.690G>A (p.Glu230=) rs767433640 0.00001
NM_001943.5(DSG2):c.713C>T (p.Thr238Ile) rs767523704 0.00001
NM_001943.5(DSG2):c.770A>G (p.Gln257Arg) rs765118809 0.00001
NM_001943.5(DSG2):c.782G>A (p.Arg261His) rs727502984 0.00001
NM_001943.5(DSG2):c.792T>A (p.Asp264Glu) rs869025388 0.00001
NM_001943.5(DSG2):c.82-3T>C rs370099811 0.00001
NM_001943.5(DSG2):c.828+5C>T rs373286117 0.00001
NM_001943.5(DSG2):c.872C>T (p.Thr291Met) rs774563205 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NM_001943.5(DSG2):c.884T>C (p.Val295Ala) rs762588785 0.00001
NM_001943.5(DSG2):c.889G>A (p.Asp297Asn) rs751012696 0.00001
NM_001943.5(DSG2):c.902T>C (p.Ile301Thr) rs1370553229 0.00001
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe) rs757792714 0.00001
NM_001943.5(DSG2):c.998T>C (p.Ile333Thr) rs773871942 0.00001
NM_002230.4(JUP):c.100G>A (p.Val34Met) rs794729029 0.00001
NM_002230.4(JUP):c.1069C>G (p.Leu357Val) rs1455055075 0.00001
NM_002230.4(JUP):c.107C>T (p.Ser36Phe) rs1555607036 0.00001
NM_002230.4(JUP):c.1096C>A (p.Pro366Thr) rs782690097 0.00001
NM_002230.4(JUP):c.1096C>G (p.Pro366Ala) rs782690097 0.00001
NM_002230.4(JUP):c.1100G>T (p.Arg367Leu) rs782067441 0.00001
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser) rs368564000 0.00001
NM_002230.4(JUP):c.1158+2_1158+4dup rs782280458 0.00001
NM_002230.4(JUP):c.1204G>A (p.Val402Met) rs782241125 0.00001
NM_002230.4(JUP):c.1213G>A (p.Val405Ile) rs200019016 0.00001
NM_002230.4(JUP):c.1236G>A (p.Thr412=) rs376391674 0.00001
NM_002230.4(JUP):c.1262A>G (p.Asn421Ser) rs782135453 0.00001
NM_002230.4(JUP):c.1300G>A (p.Gly434Ser) rs1555602250 0.00001
NM_002230.4(JUP):c.1308G>T (p.Glu436Asp) rs782594495 0.00001
NM_002230.4(JUP):c.1330C>T (p.Arg444Cys) rs781793865 0.00001
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro) rs782465430 0.00001
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys) rs781876461 0.00001
NM_002230.4(JUP):c.1355C>T (p.Thr452Met) rs781888888 0.00001
NM_002230.4(JUP):c.136G>A (p.Asp46Asn) rs782308879 0.00001
NM_002230.4(JUP):c.1378C>T (p.Arg460Cys) rs782575391 0.00001
NM_002230.4(JUP):c.1391G>A (p.Ser464Asn) rs1060502681 0.00001
NM_002230.4(JUP):c.1394G>A (p.Arg465His) rs369486398 0.00001
NM_002230.4(JUP):c.1400C>T (p.Pro467Leu) rs782667501 0.00001
NM_002230.4(JUP):c.151C>T (p.Arg51Cys) rs782254006 0.00001
NM_002230.4(JUP):c.152G>A (p.Arg51His) rs571707598 0.00001
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu) rs139454583 0.00001
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611 0.00001
NM_002230.4(JUP):c.1586A>T (p.Gln529Leu) rs1914310860 0.00001
NM_002230.4(JUP):c.1606C>G (p.Gln536Glu) rs782683108 0.00001
NM_002230.4(JUP):c.160A>G (p.Thr54Ala) rs781784933 0.00001
NM_002230.4(JUP):c.1619G>T (p.Arg540Leu) rs376881608 0.00001
NM_002230.4(JUP):c.1624G>A (p.Val542Ile) rs571375136 0.00001
NM_002230.4(JUP):c.1631C>T (p.Ala544Val) rs782762751 0.00001
NM_002230.4(JUP):c.1652C>T (p.Thr551Met) rs1038719021 0.00001
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735 0.00001
NM_002230.4(JUP):c.1730G>A (p.Arg577His) rs373434456 0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp) rs782205755 0.00001
NM_002230.4(JUP):c.1760C>T (p.Pro587Leu) rs782490959 0.00001
NM_002230.4(JUP):c.1780T>A (p.Tyr594Asn) rs1555599033 0.00001
NM_002230.4(JUP):c.1787C>T (p.Ser596Leu) rs940226194 0.00001
NM_002230.4(JUP):c.1805G>A (p.Arg602His) rs909955430 0.00001
NM_002230.4(JUP):c.1868C>G (p.Ala623Gly) rs782760341 0.00001
NM_002230.4(JUP):c.1873G>C (p.Gly625Arg) rs1060502678 0.00001
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr) rs782547688 0.00001
NM_002230.4(JUP):c.1883C>T (p.Ala628Val) rs1475273502 0.00001
NM_002230.4(JUP):c.1885C>T (p.Pro629Ser) rs1188860546 0.00001
NM_002230.4(JUP):c.1916A>G (p.Glu639Gly) rs1914057795 0.00001
NM_002230.4(JUP):c.1920C>T (p.Gly640=) rs376699725 0.00001
NM_002230.4(JUP):c.1990G>A (p.Val664Met) rs782695128 0.00001
NM_002230.4(JUP):c.200C>T (p.Pro67Leu) rs1427489722 0.00001
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr) rs1181838480 0.00001
NM_002230.4(JUP):c.2078A>G (p.Tyr693Cys) rs782475413 0.00001
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly) rs781859850 0.00001
NM_002230.4(JUP):c.2099C>T (p.Thr700Ile) rs1913627808 0.00001
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr) rs781869872 0.00001
NM_002230.4(JUP):c.2132T>C (p.Leu711Pro) rs782096012 0.00001
NM_002230.4(JUP):c.2149C>G (p.His717Asp) rs1347008405 0.00001
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn) rs1285789744 0.00001
NM_002230.4(JUP):c.21G>C (p.Met7Ile) rs782076076 0.00001
NM_002230.4(JUP):c.250C>T (p.Arg84Trp) rs782306414 0.00001
NM_002230.4(JUP):c.251G>A (p.Arg84Gln) rs782061304 0.00001
NM_002230.4(JUP):c.256C>T (p.Arg86Trp) rs782240305 0.00001
NM_002230.4(JUP):c.266T>C (p.Met89Thr) rs542745694 0.00001
NM_002230.4(JUP):c.285C>T (p.Gly95=) rs1555605900 0.00001
NM_002230.4(JUP):c.296C>T (p.Ser99Leu) rs554046226 0.00001
NM_002230.4(JUP):c.311C>A (p.Thr104Asn) rs1185864978 0.00001
NM_002230.4(JUP):c.315G>C (p.Gln105His) rs375489362 0.00001
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561 0.00001
NM_002230.4(JUP):c.344G>A (p.Arg115Gln) rs369722007 0.00001
NM_002230.4(JUP):c.374C>T (p.Ser125Leu) rs782527770 0.00001
NM_002230.4(JUP):c.406G>A (p.Asp136Asn) rs782392706 0.00001
NM_002230.4(JUP):c.424C>T (p.Arg142Cys) rs199591001 0.00001
NM_002230.4(JUP):c.485C>T (p.Ala162Val) rs369121094 0.00001
NM_002230.4(JUP):c.494T>C (p.Ile165Thr) rs1254146503 0.00001
NM_002230.4(JUP):c.562G>A (p.Ala188Thr) rs782585387 0.00001
NM_002230.4(JUP):c.571C>T (p.Arg191Cys) rs781905238 0.00001
NM_002230.4(JUP):c.592G>A (p.Asp198Asn) rs782799529 0.00001
NM_002230.4(JUP):c.601A>G (p.Thr201Ala) rs781999758 0.00001
NM_002230.4(JUP):c.628C>T (p.His210Tyr) rs1567818128 0.00001
NM_002230.4(JUP):c.647G>A (p.Arg216Gln) rs782498980 0.00001
NM_002230.4(JUP):c.661G>A (p.Ala221Thr) rs782076415 0.00001
NM_002230.4(JUP):c.674C>T (p.Ser225Leu) rs782685734 0.00001
NM_002230.4(JUP):c.680G>A (p.Gly227Asp) rs782010606 0.00001
NM_002230.4(JUP):c.697C>T (p.Arg233Cys) rs529126058 0.00001
NM_002230.4(JUP):c.698G>A (p.Arg233His) rs1304500107 0.00001
NM_002230.4(JUP):c.707+5C>A rs375580484 0.00001
NM_002230.4(JUP):c.71C>T (p.Ser24Leu) rs782460555 0.00001
NM_002230.4(JUP):c.764T>G (p.Leu255Arg) rs878854482 0.00001
NM_002230.4(JUP):c.782A>G (p.Lys261Arg) rs782527507 0.00001
NM_002230.4(JUP):c.788C>T (p.Ala263Val) rs1287470595 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_002230.4(JUP):c.818T>C (p.Met273Thr) rs782091454 0.00001
NM_002230.4(JUP):c.849G>T (p.Lys283Asn) rs794729054 0.00001
NM_002230.4(JUP):c.868G>A (p.Asp290Asn) rs982161216 0.00001
NM_002230.4(JUP):c.884T>C (p.Leu295Pro) rs1567815863 0.00001
NM_002230.4(JUP):c.88G>A (p.Ala30Thr) rs782733459 0.00001
NM_002230.4(JUP):c.928G>A (p.Gly310Ser) rs1597808505 0.00001
NM_002230.4(JUP):c.946G>A (p.Val316Met) rs782285849 0.00001
NM_002230.4(JUP):c.950A>T (p.Gln317Leu) rs782509792 0.00001
NM_002230.4(JUP):c.967A>G (p.Ser323Gly) rs781857323 0.00001
NM_002230.4(JUP):c.997C>T (p.Arg333Cys) rs782031185 0.00001
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe) rs774852168 0.00001
NM_004415.4(DSP):c.1045-3C>T rs765077011 0.00001
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser) rs1064795084 0.00001
NM_004415.4(DSP):c.120G>A (p.Met40Ile) rs1377575571 0.00001
NM_004415.4(DSP):c.1225A>T (p.Met409Leu) rs890837021 0.00001
NM_004415.4(DSP):c.1268A>G (p.Lys423Arg) rs1175321093 0.00001
NM_004415.4(DSP):c.1283T>A (p.Ile428Asn) rs760246407 0.00001
NM_004415.4(DSP):c.1291T>C (p.Tyr431His) rs1039885114 0.00001
NM_004415.4(DSP):c.1297C>T (p.Arg433Cys) rs767032884 0.00001
NM_004415.4(DSP):c.1378C>G (p.Pro460Ala) rs749422119 0.00001
NM_004415.4(DSP):c.1553T>G (p.Leu518Arg) rs1758969230 0.00001
NM_004415.4(DSP):c.1574+3A>G rs1231896749 0.00001
NM_004415.4(DSP):c.1671A>G (p.Ile557Met) rs766505506 0.00001
NM_004415.4(DSP):c.1726T>C (p.Tyr576His) rs1251859576 0.00001
NM_004415.4(DSP):c.1730T>C (p.Met577Thr) rs141956992 0.00001
NM_004415.4(DSP):c.181A>G (p.Thr61Ala) rs1380249575 0.00001
NM_004415.4(DSP):c.1901C>G (p.Thr634Arg) rs139964486 0.00001
NM_004415.4(DSP):c.2054G>C (p.Arg685Thr) rs1212756552 0.00001
NM_004415.4(DSP):c.2081C>T (p.Ala694Val) rs543446763 0.00001
NM_004415.4(DSP):c.2158G>T (p.Ala720Ser) rs1180846023 0.00001
NM_004415.4(DSP):c.2192C>A (p.Ala731Asp) rs1280322841 0.00001
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro) rs935504136 0.00001
NM_004415.4(DSP):c.2298-3C>T rs1300722110 0.00001
NM_004415.4(DSP):c.2510A>C (p.Gln837Pro) rs1202933658 0.00001
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup) rs730880373 0.00001
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu) rs794728118 0.00001
NM_004415.4(DSP):c.2629A>C (p.Arg877=) rs1581810753 0.00001
NM_004415.4(DSP):c.2630+3A>G rs1174928581 0.00001
NM_004415.4(DSP):c.273+3A>G rs794728107 0.00001
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile) rs1265482489 0.00001
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro) rs1473895931 0.00001
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559 0.00001
NM_004415.4(DSP):c.2985G>A (p.Glu995=) rs768858918 0.00001
NM_004415.4(DSP):c.2995G>A (p.Val999Ile) rs1261418744 0.00001
NM_004415.4(DSP):c.2T>G (p.Met1Arg) rs748738880 0.00001
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser) rs1218975129 0.00001
NM_004415.4(DSP):c.3025A>G (p.Arg1009Gly) rs1413346143 0.00001
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr) rs773331618 0.00001
NM_004415.4(DSP):c.3067A>C (p.Ser1023Arg) rs766388963 0.00001
NM_004415.4(DSP):c.3084G>A (p.Lys1028=) rs964949139 0.00001
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr) rs1185986064 0.00001
NM_004415.4(DSP):c.3379T>C (p.Ser1127Pro) rs1581815458 0.00001
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser) rs777375223 0.00001
NM_004415.4(DSP):c.3649A>T (p.Thr1217Ser) rs770484693 0.00001
NM_004415.4(DSP):c.364G>A (p.Asp122Asn) rs756013600 0.00001
NM_004415.4(DSP):c.3680A>G (p.Gln1227Arg) rs1458557680 0.00001
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn) rs989348634 0.00001
NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu) rs924651718 0.00001
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr) rs1285435504 0.00001
NM_004415.4(DSP):c.3838T>C (p.Cys1280Arg) rs1473719755 0.00001
NM_004415.4(DSP):c.4112A>G (p.Asn1371Ser) rs369649373 0.00001
NM_004415.4(DSP):c.4142C>G (p.Thr1381Ser) rs767174407 0.00001
NM_004415.4(DSP):c.4184T>A (p.Ile1395Lys) rs1220191244 0.00001
NM_004415.4(DSP):c.423G>C (p.Arg141Ser) rs771688614 0.00001
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro) rs1561698695 0.00001
NM_004415.4(DSP):c.431A>C (p.Gln144Pro) rs768178768 0.00001
NM_004415.4(DSP):c.4358A>C (p.Gln1453Pro) rs1464785832 0.00001
NM_004415.4(DSP):c.4457T>C (p.Leu1486Ser) rs779863353 0.00001
NM_004415.4(DSP):c.4592A>C (p.Gln1531Pro) rs1208037043 0.00001
NM_004415.4(DSP):c.4625A>G (p.Tyr1542Cys) rs1279142467 0.00001
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro) rs1394590334 0.00001
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu) rs773622004 0.00001
NM_004415.4(DSP):c.4841A>G (p.Asn1614Ser) rs1759419529 0.00001
NM_004415.4(DSP):c.4862A>G (p.Gln1621Arg) rs1226931552 0.00001
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly) rs1304994640 0.00001
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) rs786205416 0.00001
NM_004415.4(DSP):c.50T>G (p.Met17Arg) rs559248100 0.00001
NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu) rs768870428 0.00001
NM_004415.4(DSP):c.5153T>C (p.Leu1718Ser) rs1278859783 0.00001
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg) rs377344768 0.00001
NM_004415.4(DSP):c.5242A>G (p.Thr1748Ala) rs1315952619 0.00001
NM_004415.4(DSP):c.5284C>T (p.Arg1762Trp) rs766833113 0.00001
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg) rs987386495 0.00001
NM_004415.4(DSP):c.5647T>C (p.Ser1883Pro) rs1056652234 0.00001
NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys) rs794728103 0.00001
NM_004415.4(DSP):c.5752G>A (p.Glu1918Lys) rs1352220803 0.00001
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) rs794728104 0.00001
NM_004415.4(DSP):c.582G>T (p.Trp194Cys) rs1345570966 0.00001
NM_004415.4(DSP):c.5875T>C (p.Trp1959Arg) rs1759501923 0.00001
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) rs794728128 0.00001
NM_004415.4(DSP):c.599C>T (p.Ala200Val) rs1337095425 0.00001
NM_004415.4(DSP):c.6002T>A (p.Val2001Glu) rs926676669 0.00001
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala) rs1327599046 0.00001
NM_004415.4(DSP):c.6137T>G (p.Val2046Gly) rs746016404 0.00001
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile) rs374226658 0.00001
NM_004415.4(DSP):c.6235G>C (p.Asp2079His) rs992731463 0.00001
NM_004415.4(DSP):c.6259T>C (p.Tyr2087His) rs780332266 0.00001
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys) rs397516951 0.00001
NM_004415.4(DSP):c.6359C>T (p.Thr2120Ile) rs1759528864 0.00001
NM_004415.4(DSP):c.6403G>A (p.Val2135Ile) rs1416815807 0.00001
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp) rs762434061 0.00001
NM_004415.4(DSP):c.6547T>G (p.Tyr2183Asp) rs763549172 0.00001
NM_004415.4(DSP):c.6587C>T (p.Thr2196Ile) rs958098310 0.00001
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val) rs752057967 0.00001
NM_004415.4(DSP):c.6733G>A (p.Glu2245Lys) rs539763516 0.00001
NM_004415.4(DSP):c.677A>G (p.Asn226Ser) rs921332894 0.00001
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser) rs869025396 0.00001
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) rs762943687 0.00001
NM_004415.4(DSP):c.695G>A (p.Arg232His) rs749438581 0.00001
NM_004415.4(DSP):c.7162G>A (p.Val2388Ile) rs370490538 0.00001
NM_004415.4(DSP):c.7172C>T (p.Ala2391Val) rs879254351 0.00001
NM_004415.4(DSP):c.7193A>G (p.Asn2398Ser) rs1251606363 0.00001
NM_004415.4(DSP):c.7279C>A (p.Leu2427Met) rs555784793 0.00001
NM_004415.4(DSP):c.7341A>C (p.Lys2447Asn) rs755448403 0.00001
NM_004415.4(DSP):c.7390C>T (p.Arg2464Cys) rs778822920 0.00001
NM_004415.4(DSP):c.7433C>T (p.Ser2478Phe) rs1759570987 0.00001
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg) rs1346398330 0.00001
NM_004415.4(DSP):c.7501T>C (p.Cys2501Arg) rs776405018 0.00001
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr) rs772574987 0.00001
NM_004415.4(DSP):c.764A>T (p.Tyr255Phe) rs1490279963 0.00001
NM_004415.4(DSP):c.7694A>C (p.Asn2565Thr) rs769572594 0.00001
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser) rs563272509 0.00001
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala) rs1170072296 0.00001
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile) rs772951950 0.00001
NM_004415.4(DSP):c.7819A>G (p.Ser2607Gly) rs1371480664 0.00001
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val) rs767630308 0.00001
NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys) rs756976948 0.00001
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu) rs1064793890 0.00001
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro) rs1060500612 0.00001
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser) rs1371748682 0.00001
NM_004415.4(DSP):c.8137G>A (p.Val2713Met) rs1219478425 0.00001
NM_004415.4(DSP):c.8162A>G (p.Glu2721Gly) rs1324438820 0.00001
NM_004415.4(DSP):c.8210T>C (p.Val2737Ala) rs794728155 0.00001
NM_004415.4(DSP):c.8216C>T (p.Pro2739Leu) rs761527198 0.00001
NM_004415.4(DSP):c.8253C>G (p.Ile2751Met) rs1165200201 0.00001
NM_004415.4(DSP):c.8330C>A (p.Pro2777His) rs376273136 0.00001
NM_004415.4(DSP):c.8389A>G (p.Ile2797Val) rs1040353645 0.00001
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe) rs201271117 0.00001
NM_004415.4(DSP):c.844G>A (p.Glu282Lys) rs397516966 0.00001
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val) rs397516970 0.00001
NM_004415.4(DSP):c.8606T>C (p.Ile2869Thr) rs1759656543 0.00001
NM_004415.4(DSP):c.917C>G (p.Ala306Gly) rs1758833983 0.00001
NM_006073.4(TRDN):c.1060A>G (p.Lys354Glu) rs761972576 0.00001
NM_006073.4(TRDN):c.1108G>A (p.Ala370Thr) rs1781990629 0.00001
NM_006073.4(TRDN):c.1115A>G (p.Lys372Arg) rs1259355217 0.00001
NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg) rs750876367 0.00001
NM_006073.4(TRDN):c.1148C>T (p.Thr383Ile) rs780744224 0.00001
NM_006073.4(TRDN):c.1165G>T (p.Val389Leu) rs768208179 0.00001
NM_006073.4(TRDN):c.1222A>G (p.Lys408Glu) rs771278361 0.00001
NM_006073.4(TRDN):c.1249C>G (p.Pro417Ala) rs773700571 0.00001
NM_006073.4(TRDN):c.1273+4T>C rs1261345499 0.00001
NM_006073.4(TRDN):c.1274-6T>A rs1034356533 0.00001
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln) rs371336992 0.00001
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp) rs1297242196 0.00001
NM_006073.4(TRDN):c.128C>T (p.Thr43Met) rs748832633 0.00001
NM_006073.4(TRDN):c.1321+1G>A rs775407481 0.00001
NM_006073.4(TRDN):c.1321+2T>C rs772232730 0.00001
NM_006073.4(TRDN):c.134G>T (p.Ser45Ile) rs748395950 0.00001
NM_006073.4(TRDN):c.1393A>G (p.Lys465Glu) rs1779922492 0.00001
NM_006073.4(TRDN):c.1395G>C (p.Lys465Asn) rs1323480717 0.00001
NM_006073.4(TRDN):c.1420+2T>C rs1197905831 0.00001
NM_006073.4(TRDN):c.1487A>T (p.Lys496Ile) rs1219920478 0.00001
NM_006073.4(TRDN):c.1501T>A (p.Ser501Thr) rs370559465 0.00001
NM_006073.4(TRDN):c.1537+5G>A rs1418472166 0.00001
NM_006073.4(TRDN):c.1537C>A (p.Gln513Lys) rs757355311 0.00001
NM_006073.4(TRDN):c.1567+2T>C rs1384476992 0.00001
NM_006073.4(TRDN):c.1569G>T (p.Glu523Asp) rs1395279008 0.00001
NM_006073.4(TRDN):c.1622A>G (p.His541Arg) rs919195476 0.00001
NM_006073.4(TRDN):c.1624+3A>G rs917121544 0.00001
NM_006073.4(TRDN):c.1631A>T (p.Asp544Val) rs1417883411 0.00001
NM_006073.4(TRDN):c.1660C>G (p.His554Asp) rs749072053 0.00001
NM_006073.4(TRDN):c.1673-3C>G rs762200112 0.00001
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp) rs947096255 0.00001
NM_006073.4(TRDN):c.1690C>G (p.Gln564Glu) rs892905883 0.00001
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr) rs374035597 0.00001
NM_006073.4(TRDN):c.1766C>A (p.Pro589His) rs371717903 0.00001
NM_006073.4(TRDN):c.17C>T (p.Ala6Val) rs764897557 0.00001
NM_006073.4(TRDN):c.1805-2A>G rs1417676099 0.00001
NM_006073.4(TRDN):c.1819G>C (p.Val607Leu) rs775485689 0.00001
NM_006073.4(TRDN):c.1853C>T (p.Ser618Phe) rs1270608603 0.00001
NM_006073.4(TRDN):c.1870+5A>T rs1041234944 0.00001
NM_006073.4(TRDN):c.1879G>C (p.Asp627His) rs997711349 0.00001
NM_006073.4(TRDN):c.1904A>G (p.Lys635Arg) rs1179112140 0.00001
NM_006073.4(TRDN):c.1952-6T>A rs1452400104 0.00001
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys) rs1194412303 0.00001
NM_006073.4(TRDN):c.1976-3T>C rs934486291 0.00001
NM_006073.4(TRDN):c.2027A>G (p.Asp676Gly) rs1775147117 0.00001
NM_006073.4(TRDN):c.2060G>A (p.Ser687Asn) rs1188001301 0.00001
NM_006073.4(TRDN):c.2074G>A (p.Val692Ile) rs1208049678 0.00001
NM_006073.4(TRDN):c.2087G>A (p.Gly696Glu) rs770748006 0.00001
NM_006073.4(TRDN):c.2092A>C (p.Asn698His) rs777779916 0.00001
NM_006073.4(TRDN):c.2122C>T (p.Pro708Ser) rs751278695 0.00001
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter) rs1414689230 0.00001
NM_006073.4(TRDN):c.22+4T>C rs757565507 0.00001
NM_006073.4(TRDN):c.232+6T>G rs747825904 0.00001
NM_006073.4(TRDN):c.310T>A (p.Tyr104Asn) rs566714157 0.00001
NM_006073.4(TRDN):c.311A>G (p.Tyr104Cys) rs1345111830 0.00001
NM_006073.4(TRDN):c.335A>T (p.Asp112Val) rs772376488 0.00001
NM_006073.4(TRDN):c.360A>T (p.Glu120Asp) rs1433101332 0.00001
NM_006073.4(TRDN):c.371G>A (p.Gly124Asp) rs1781225730 0.00001
NM_006073.4(TRDN):c.398T>C (p.Ile133Thr) rs1218113277 0.00001
NM_006073.4(TRDN):c.463G>A (p.Glu155Lys) rs1386718060 0.00001
NM_006073.4(TRDN):c.482A>C (p.Lys161Thr) rs886039003 0.00001
NM_006073.4(TRDN):c.527A>T (p.Glu176Val) rs1174526334 0.00001
NM_006073.4(TRDN):c.558C>A (p.His186Gln) rs1173699706 0.00001
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr) rs1335196025 0.00001
NM_006073.4(TRDN):c.652A>C (p.Thr218Pro) rs1778805040 0.00001
NM_006073.4(TRDN):c.665T>G (p.Val222Gly) rs758037868 0.00001
NM_006073.4(TRDN):c.754G>T (p.Asp252Tyr) rs749401047 0.00001
NM_006073.4(TRDN):c.755A>G (p.Asp252Gly) rs969285752 0.00001
NM_006073.4(TRDN):c.762G>C (p.Glu254Asp) rs746983339 0.00001
NM_006073.4(TRDN):c.811C>T (p.Arg271Ter) rs1201954479 0.00001
NM_006073.4(TRDN):c.812G>A (p.Arg271Gln) rs772783444 0.00001
NM_006073.4(TRDN):c.826A>G (p.Ile276Val) rs150412658 0.00001
NM_006073.4(TRDN):c.851C>G (p.Pro284Arg) rs755534468 0.00001
NM_006073.4(TRDN):c.853+3A>G rs372783263 0.00001
NM_006073.4(TRDN):c.853+6C>A rs1331217957 0.00001
NM_006073.4(TRDN):c.902G>A (p.Arg301Lys) rs780453421 0.00001
NM_006073.4(TRDN):c.911C>T (p.Pro304Leu) rs750105528 0.00001
NM_006073.4(TRDN):c.931+6T>C rs913713029 0.00001
NM_006073.4(TRDN):c.947A>G (p.Lys316Arg) rs1200632068 0.00001
NM_006073.4(TRDN):c.949A>G (p.Lys317Glu) rs138624936 0.00001
NM_006073.4(TRDN):c.990A>G (p.Lys330=) rs941068115 0.00001
NM_006073.4(TRDN):c.991+3A>G rs961504074 0.00001
NM_013266.4(CTNNA3):c.1000G>A (p.Ala334Thr) rs1195868563 0.00001
NM_013266.4(CTNNA3):c.106A>C (p.Thr36Pro) rs760248318 0.00001
NM_013266.4(CTNNA3):c.1073C>A (p.Thr358Asn) rs751471841 0.00001
NM_013266.4(CTNNA3):c.108del (p.Leu37_Val38insTer) rs1843301169 0.00001
NM_013266.4(CTNNA3):c.1091A>G (p.Asp364Gly) rs753966151 0.00001
NM_013266.4(CTNNA3):c.1094A>G (p.Asn365Ser) rs764419738 0.00001
NM_013266.4(CTNNA3):c.1154T>C (p.Val385Ala) rs149348606 0.00001
NM_013266.4(CTNNA3):c.1172A>T (p.Asp391Val) rs772157953 0.00001
NM_013266.4(CTNNA3):c.1186C>G (p.Leu396Val) rs376091500 0.00001
NM_013266.4(CTNNA3):c.1220G>A (p.Arg407Gln) rs369880246 0.00001
NM_013266.4(CTNNA3):c.1247C>T (p.Ala416Val) rs1032740164 0.00001
NM_013266.4(CTNNA3):c.1256A>G (p.His419Arg) rs1292553472 0.00001
NM_013266.4(CTNNA3):c.1282G>A (p.Val428Met) rs770912324 0.00001
NM_013266.4(CTNNA3):c.130C>G (p.Pro44Ala) rs759426077 0.00001
NM_013266.4(CTNNA3):c.1334T>C (p.Val445Ala) rs954678537 0.00001
NM_013266.4(CTNNA3):c.1382A>G (p.Asn461Ser) rs751206907 0.00001
NM_013266.4(CTNNA3):c.1459G>A (p.Glu487Lys) rs746514516 0.00001
NM_013266.4(CTNNA3):c.1508T>C (p.Ile503Thr) rs770318219 0.00001
NM_013266.4(CTNNA3):c.151C>T (p.Arg51Cys) rs749212121 0.00001
NM_013266.4(CTNNA3):c.1657G>T (p.Gly553Cys) rs371983729 0.00001
NM_013266.4(CTNNA3):c.1724C>G (p.Thr575Arg) rs2092816708 0.00001
NM_013266.4(CTNNA3):c.1733-1G>C rs193155648 0.00001
NM_013266.4(CTNNA3):c.1771G>A (p.Glu591Lys) rs769809500 0.00001
NM_013266.4(CTNNA3):c.1865G>A (p.Cys622Tyr) rs367616357 0.00001
NM_013266.4(CTNNA3):c.1884+5G>A rs766237431 0.00001
NM_013266.4(CTNNA3):c.1894G>A (p.Glu632Lys) rs1060502222 0.00001
NM_013266.4(CTNNA3):c.1955A>G (p.Gln652Arg) rs768222263 0.00001
NM_013266.4(CTNNA3):c.1978-3T>G rs1384475219 0.00001
NM_013266.4(CTNNA3):c.2023G>A (p.Glu675Lys) rs1415628169 0.00001
NM_013266.4(CTNNA3):c.2044A>G (p.Lys682Glu) rs911988614 0.00001
NM_013266.4(CTNNA3):c.2117A>G (p.Lys706Arg) rs758519231 0.00001
NM_013266.4(CTNNA3):c.2122A>G (p.Met708Val) rs148554495 0.00001
NM_013266.4(CTNNA3):c.2126G>A (p.Cys709Tyr) rs1458100029 0.00001
NM_013266.4(CTNNA3):c.214A>G (p.Lys72Glu) rs371997421 0.00001
NM_013266.4(CTNNA3):c.2174T>A (p.Leu725Gln) rs2078479556 0.00001
NM_013266.4(CTNNA3):c.2377G>A (p.Gly793Arg) rs778606956 0.00001
NM_013266.4(CTNNA3):c.2455G>A (p.Val819Met) rs1239218750 0.00001
NM_013266.4(CTNNA3):c.2494A>T (p.Ile832Phe) rs376310020 0.00001
NM_013266.4(CTNNA3):c.2525G>A (p.Arg842Gln) rs780903815 0.00001
NM_013266.4(CTNNA3):c.2575A>T (p.Ile859Phe) rs766896063 0.00001
NM_013266.4(CTNNA3):c.2616A>C (p.Arg872Ser) rs775103016 0.00001
NM_013266.4(CTNNA3):c.2630A>C (p.Lys877Thr) rs781167292 0.00001
NM_013266.4(CTNNA3):c.313G>T (p.Ala105Ser) rs1261483627 0.00001
NM_013266.4(CTNNA3):c.323T>C (p.Phe108Ser) rs1206597536 0.00001
NM_013266.4(CTNNA3):c.334C>T (p.Pro112Ser) rs1485074194 0.00001
NM_013266.4(CTNNA3):c.362T>A (p.Val121Glu) rs1840603727 0.00001
NM_013266.4(CTNNA3):c.373G>T (p.Ala125Ser) rs550249818 0.00001
NM_013266.4(CTNNA3):c.392C>T (p.Ala131Val) rs774544494 0.00001
NM_013266.4(CTNNA3):c.416C>T (p.Ala139Val) rs528701683 0.00001
NM_013266.4(CTNNA3):c.425T>C (p.Ile142Thr) rs769116433 0.00001
NM_013266.4(CTNNA3):c.623G>A (p.Arg208Gln) rs369420715 0.00001
NM_013266.4(CTNNA3):c.646C>T (p.Pro216Ser) rs768170868 0.00001
NM_013266.4(CTNNA3):c.682C>T (p.His228Tyr) rs1342375122 0.00001
NM_013266.4(CTNNA3):c.694G>C (p.Ala232Pro) rs1277837578 0.00001
NM_013266.4(CTNNA3):c.767C>T (p.Ser256Leu) rs1864559262 0.00001
NM_013266.4(CTNNA3):c.770A>G (p.Gln257Arg) rs767234618 0.00001
NM_013266.4(CTNNA3):c.851T>C (p.Ile284Thr) rs1385868561 0.00001
NM_013266.4(CTNNA3):c.889C>T (p.Arg297Ter) rs771161312 0.00001
NM_013266.4(CTNNA3):c.957T>A (p.Cys319Ter) rs1862472784 0.00001
NM_013266.4(CTNNA3):c.967T>A (p.Leu323Ile) rs113836576 0.00001
NM_013266.4(CTNNA3):c.974G>A (p.Arg325Gln) rs773609785 0.00001
NM_013266.4(CTNNA3):c.986T>C (p.Ile329Thr) rs181929603 0.00001
NM_013266.4(CTNNA3):c.99G>A (p.Gln33=) rs1230378653 0.00001
NM_024334.3(TMEM43):c.1000+2T>C rs748618994 0.00001
NM_024334.3(TMEM43):c.1000+6T>C rs773749788 0.00001
NM_024334.3(TMEM43):c.1037T>C (p.Ile346Thr) rs1286798674 0.00001
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser) rs565997790 0.00001
NM_024334.3(TMEM43):c.1067C>T (p.Ala356Val) rs1465084342 0.00001
NM_024334.3(TMEM43):c.1085T>G (p.Leu362Arg) rs756256793 0.00001
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met) rs754236206 0.00001
NM_024334.3(TMEM43):c.1115G>A (p.Arg372Gln) rs749140979 0.00001
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602 0.00001
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp) rs765762863 0.00001
NM_024334.3(TMEM43):c.1178G>A (p.Arg393Gln) rs758037497 0.00001
NM_024334.3(TMEM43):c.118C>G (p.Leu40Val) rs755682525 0.00001
NM_024334.3(TMEM43):c.136T>C (p.Ser46Pro) rs145510310 0.00001
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His) rs727505249 0.00001
NM_024334.3(TMEM43):c.163-2A>T rs745694031 0.00001
NM_024334.3(TMEM43):c.167G>A (p.Arg56His) rs747164382 0.00001
NM_024334.3(TMEM43):c.178A>T (p.Thr60Ser) rs1695084121 0.00001
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly) rs1225730180 0.00001
NM_024334.3(TMEM43):c.208C>T (p.Leu70Phe) rs577359875 0.00001
NM_024334.3(TMEM43):c.223G>A (p.Asp75Asn) rs138764471 0.00001
NM_024334.3(TMEM43):c.227G>A (p.Ser76Asn) rs144663367 0.00001
NM_024334.3(TMEM43):c.235A>G (p.Ser79Gly) rs930770110 0.00001
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala) rs148171303 0.00001
NM_024334.3(TMEM43):c.245C>T (p.Pro82Leu) rs748242385 0.00001
NM_024334.3(TMEM43):c.251A>G (p.Asn84Ser) rs773605236 0.00001
NM_024334.3(TMEM43):c.26G>A (p.Ser9Asn) rs1695062743 0.00001
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr) rs555913548 0.00001
NM_024334.3(TMEM43):c.329T>C (p.Leu110Pro) rs1553602985 0.00001
NM_024334.3(TMEM43):c.333G>A (p.Pro111=) rs774276092 0.00001
NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro) rs376182664 0.00001
NM_024334.3(TMEM43):c.346C>T (p.Arg116Trp) rs752588115 0.00001
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile) rs754381041 0.00001
NM_024334.3(TMEM43):c.401C>A (p.Thr134Asn) rs778405877 0.00001
NM_024334.3(TMEM43):c.47A>T (p.Lys16Ile) rs770619613 0.00001
NM_024334.3(TMEM43):c.494T>C (p.Ile165Thr) rs1339170856 0.00001
NM_024334.3(TMEM43):c.497G>C (p.Gly166Ala) rs767516734 0.00001
NM_024334.3(TMEM43):c.49G>A (p.Val17Ile) rs370973153 0.00001
NM_024334.3(TMEM43):c.500A>G (p.His167Arg) rs775986881 0.00001
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val) rs553757132 0.00001
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr) rs397517385 0.00001
NM_024334.3(TMEM43):c.530C>T (p.Ser177Leu) rs1167948235 0.00001
NM_024334.3(TMEM43):c.542C>T (p.Thr181Ile) rs1695131103 0.00001
NM_024334.3(TMEM43):c.548C>G (p.Pro183Arg) rs746116143 0.00001
NM_024334.3(TMEM43):c.560T>C (p.Ile187Thr) rs772317634 0.00001
NM_024334.3(TMEM43):c.592G>A (p.Asp198Asn) rs1383512011 0.00001
NM_024334.3(TMEM43):c.606del (p.Phe203fs) rs753024549 0.00001
NM_024334.3(TMEM43):c.62C>T (p.Ser21Phe) rs794729183 0.00001
NM_024334.3(TMEM43):c.646G>A (p.Val216Met) rs143735210 0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys) rs562700595 0.00001
NM_024334.3(TMEM43):c.659G>A (p.Arg220His) rs570836197 0.00001
NM_024334.3(TMEM43):c.65dup (p.Pro23fs) rs1300909566 0.00001
NM_024334.3(TMEM43):c.662G>A (p.Arg221His) rs774735646 0.00001
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg) rs746183974 0.00001
NM_024334.3(TMEM43):c.686A>G (p.Glu229Gly) rs764671990 0.00001
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser) rs374202326 0.00001
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala) rs751419150 0.00001
NM_024334.3(TMEM43):c.705+5G>T rs754716462 0.00001
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys) rs150478052 0.00001
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn) rs375481688 0.00001
NM_024334.3(TMEM43):c.781-3C>T rs780142044 0.00001
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu) rs769969149 0.00001
NM_024334.3(TMEM43):c.859C>T (p.His287Tyr) rs780299346 0.00001
NM_024334.3(TMEM43):c.893A>G (p.His298Arg) rs1285837389 0.00001
NM_024334.3(TMEM43):c.895A>G (p.Arg299Gly) rs757038162 0.00001
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro) rs1431861933 0.00001
NM_024334.3(TMEM43):c.959T>G (p.Phe320Cys) rs886787374 0.00001
NM_024334.3(TMEM43):c.961A>G (p.Met321Val) rs397517387 0.00001
NM_024334.3(TMEM43):c.973C>T (p.Leu325Phe) rs373644386 0.00001
NM_024334.3(TMEM43):c.982C>T (p.Arg328Trp) rs561883271 0.00001
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln) rs185611706 0.00001
NM_024334.3(TMEM43):c.997T>G (p.Leu333Val) rs1487754536 0.00001
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val) rs746745677 0.00001
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr) rs1214725211 0.00001
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr) rs999869714 0.00001
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) rs751810874 0.00001
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) rs538663626 0.00001
NM_024422.6(DSC2):c.1120T>G (p.Leu374Val) rs1987251997 0.00001
NM_024422.6(DSC2):c.1124G>A (p.Arg375Gln) rs770412621 0.00001
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp) rs1300215880 0.00001
NM_024422.6(DSC2):c.1238A>G (p.Asn413Ser) rs1293927459 0.00001
NM_024422.6(DSC2):c.1309G>C (p.Val437Leu) rs775579662 0.00001
NM_024422.6(DSC2):c.1315A>G (p.Asn439Asp) rs148712725 0.00001
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr) rs1467311353 0.00001
NM_024422.6(DSC2):c.1399G>C (p.Glu467Gln) rs1208470556 0.00001
NM_024422.6(DSC2):c.1402G>A (p.Gly468Ser) rs149316362 0.00001
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu) rs776398212 0.00001
NM_024422.6(DSC2):c.1435C>T (p.Arg479Cys) rs138761522 0.00001
NM_024422.6(DSC2):c.1438A>C (p.Met480Leu) rs370616107 0.00001
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn) rs780446276 0.00001
NM_024422.6(DSC2):c.146T>C (p.Val49Ala) rs1275514075 0.00001
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu) rs899009158 0.00001
NM_024422.6(DSC2):c.1506T>A (p.Ser502Arg) rs756803622 0.00001
NM_024422.6(DSC2):c.1520+6T>C rs1029243199 0.00001
NM_024422.6(DSC2):c.1521-18A>G rs886506694 0.00001
NM_024422.6(DSC2):c.154+6G>A rs778131915 0.00001
NM_024422.6(DSC2):c.1547G>A (p.Gly516Glu) rs1402893994 0.00001
NM_024422.6(DSC2):c.155-3C>T rs745988877 0.00001
NM_024422.6(DSC2):c.1568A>G (p.Asn523Ser) rs766187198 0.00001
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu) rs887847751 0.00001
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met) rs750329563 0.00001
NM_024422.6(DSC2):c.1627G>A (p.Gly543Ser) rs1418248949 0.00001
NM_024422.6(DSC2):c.1628G>A (p.Gly543Asp) rs977709312 0.00001
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys) rs776917359 0.00001
NM_024422.6(DSC2):c.1678A>G (p.Thr560Ala) rs1314129882 0.00001
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met) rs772775522 0.00001
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val) rs780712159 0.00001
NM_024422.6(DSC2):c.1697T>C (p.Ile566Thr) rs1399123480 0.00001
NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser) rs1462605063 0.00001
NM_024422.6(DSC2):c.1781T>C (p.Ile594Thr) rs915888072 0.00001
NM_024422.6(DSC2):c.1783G>A (p.Val595Ile) rs1447974524 0.00001
NM_024422.6(DSC2):c.1796C>G (p.Pro599Arg) rs377384219 0.00001
NM_024422.6(DSC2):c.1906T>G (p.Ser636Ala) rs1191039477 0.00001
NM_024422.6(DSC2):c.1907C>T (p.Ser636Phe) rs764355417 0.00001
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys) rs758990451 0.00001
NM_024422.6(DSC2):c.1916A>G (p.Asn639Ser) rs369281243 0.00001
NM_024422.6(DSC2):c.1924C>G (p.Pro642Ala) rs368353349 0.00001
NM_024422.6(DSC2):c.1996G>A (p.Val666Ile) rs758646191 0.00001
NM_024422.6(DSC2):c.2010C>A (p.Asp670Glu) rs1423264468 0.00001
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu) rs374002111 0.00001
NM_024422.6(DSC2):c.2047C>A (p.Pro683Thr) rs1386709734 0.00001
NM_024422.6(DSC2):c.2068G>T (p.Val690Leu) rs768784624 0.00001
NM_024422.6(DSC2):c.2082G>T (p.Lys694Asn) rs397517397 0.00001
NM_024422.6(DSC2):c.2125T>G (p.Cys709Gly) rs755534194 0.00001
NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser) rs764008863 0.00001
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp) rs371950232 0.00001
NM_024422.6(DSC2):c.2215G>T (p.Val739Leu) rs780610767 0.00001
NM_024422.6(DSC2):c.2231C>T (p.Ala744Val) rs758269321 0.00001
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val) rs1217851416 0.00001
NM_024422.6(DSC2):c.2294C>T (p.Ala765Val) rs771628564 0.00001
NM_024422.6(DSC2):c.2300G>A (p.Gly767Glu) rs772898155 0.00001
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) rs749174176 0.00001
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) rs1789054 0.00001
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys) rs752873618 0.00001
NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly) rs769747496 0.00001
NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu) rs794728071 0.00001
NM_024422.6(DSC2):c.2408A>G (p.His803Arg) rs150124218 0.00001
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met) rs756497616 0.00001
NM_024422.6(DSC2):c.2446G>A (p.Val816Met) rs377700521 0.00001
NM_024422.6(DSC2):c.2452A>G (p.Asn818Asp) rs1454999415 0.00001
NM_024422.6(DSC2):c.2512G>A (p.Val838Met) rs1986695514 0.00001
NM_024422.6(DSC2):c.2545C>T (p.His849Tyr) rs1312909126 0.00001
NM_024422.6(DSC2):c.2588G>A (p.Gly863Glu) rs778423904 0.00001
NM_024422.6(DSC2):c.2597C>G (p.Ala866Gly) rs760363798 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu) rs727504906 0.00001
NM_024422.6(DSC2):c.2642T>A (p.Leu881His) rs1231247825 0.00001
NM_024422.6(DSC2):c.2694C>A (p.Cys898Ter) rs1986684188 0.00001
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) rs1256252633 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.355-3G>T rs975997446 0.00001
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn) rs762877422 0.00001
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala) rs369061469 0.00001
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser) rs1478081073 0.00001
NM_024422.6(DSC2):c.448G>C (p.Gly150Arg) rs1220979594 0.00001
NM_024422.6(DSC2):c.474+5C>T rs397517400 0.00001
NM_024422.6(DSC2):c.478C>A (p.Gln160Lys) rs374844700 0.00001
NM_024422.6(DSC2):c.47G>A (p.Arg16Gln) rs869025386 0.00001
NM_024422.6(DSC2):c.488C>T (p.Thr163Met) rs758759298 0.00001
NM_024422.6(DSC2):c.506T>C (p.Ile169Thr) rs1185834011 0.00001
NM_024422.6(DSC2):c.508T>C (p.Tyr170His) rs1484093917 0.00001
NM_024422.6(DSC2):c.509A>G (p.Tyr170Cys) rs759910399 0.00001
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu) rs766855728 0.00001
NM_024422.6(DSC2):c.537C>A (p.Asp179Glu) rs1987521149 0.00001
NM_024422.6(DSC2):c.549G>T (p.Arg183=) rs774025474 0.00001
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425 0.00001
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys) rs753004247 0.00001
NM_024422.6(DSC2):c.62C>A (p.Thr21Asn) rs931909783 0.00001
NM_024422.6(DSC2):c.631-3C>T rs1262481741 0.00001
NM_024422.6(DSC2):c.638C>T (p.Ala213Val) rs1299475740 0.00001
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala) rs755298693 0.00001
NM_024422.6(DSC2):c.697A>G (p.Ile233Val) rs886039077 0.00001
NM_024422.6(DSC2):c.70A>G (p.Ile24Val) rs1228372400 0.00001
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn) rs1987447409 0.00001
NM_024422.6(DSC2):c.836G>A (p.Arg279His) rs775614779 0.00001
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu) rs755952123 0.00001
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile) rs761796202 0.00001
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) rs576466497 0.00001
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn) rs769219956 0.00001
NC_000001.10:g.(?_116243862)_(116287553_?)dup
NC_000001.10:g.(?_116243862)_(116311162_?)dup
NC_000001.10:g.(?_116260441)_(116311162_?)dup
NC_000001.10:g.(?_116275502)_(116280976_?)dup
NC_000001.10:g.(?_116310909)_(116947066_?)dup
NC_000001.10:g.(?_236849954)_(237551503_?)dup
NC_000001.10:g.(?_236902582)_(237995947_?)del
NC_000001.10:g.(?_237205812)_(237205879_?)del
NC_000001.10:g.(?_237205822)_(237205889_?)dup
NC_000001.10:g.(?_237433777)_(237433936_?)dup
NC_000001.10:g.(?_237433777)_(237527692_?)dup
NC_000001.10:g.(?_237433777)_(237540755_?)dup
NC_000001.10:g.(?_237433791)_(237519291_?)dup
NC_000001.10:g.(?_237519245)_(237519305_?)del
NC_000001.10:g.(?_237519245)_(237586568_?)dup
NC_000001.10:g.(?_237519255)_(237758967_?)del
NC_000001.10:g.(?_237538007)_(237714001_?)dup
NC_000001.10:g.(?_237580329)_(237995947_?)dup
NC_000001.10:g.(?_237711721)_(237982502_?)dup
NC_000001.10:g.(?_237753073)_(237924348_?)del
NC_000001.10:g.(?_237765305)_(237995947_?)dup
NC_000001.10:g.(?_237796858)_(237995947_?)dup
NC_000001.10:g.(?_237889553)_(237995947_?)dup
NC_000001.10:g.(?_237893540)_(237995947_?)dup
NC_000001.10:g.(?_237919568)_(237921096_?)del
NC_000001.10:g.(?_237923056)_(237995947_?)del
NC_000001.10:g.(?_237941946)_(237995947_?)del
NC_000001.10:g.(?_237965136)_(237995947_?)dup
NC_000001.10:g.(?_237982316)_(237982512_?)del
NC_000001.11:g.(?_237270487)_(237832657_?)del
NC_000001.11:g.(?_237270487)_(237832657_?)dup
NC_000001.11:g.(?_237441309)_(237454584_?)del
NC_000001.11:g.(?_237441309)_(237456745_?)del
NC_000001.11:g.(?_237666502)_(237794007_?)del
NC_000001.11:g.(?_237756278)_(237832657_?)del
NC_000001.11:g.(?_237770797)_(237773658_?)del
NC_000003.11:g.(?_14166440)_(14185180_?)dup
NC_000003.11:g.(?_14166684)_(14183305_?)del
NC_000003.11:g.(?_14166694)_(14183295_?)dup
NC_000003.11:g.(?_14180660)_(14180817_?)del
NC_000003.12:g.(?_14125184)_(14141805_?)dup
NC_000006.11:g.(?_123539726)_(123825066_?)dup
NC_000006.11:g.(?_123539746)_(123833527_?)del
NC_000006.11:g.(?_123539746)_(123957920_?)dup
NC_000006.11:g.(?_123573537)_(123573600_?)del
NC_000006.11:g.(?_123573537)_(123595835_?)del
NC_000006.11:g.(?_123580749)_(123595835_?)dup
NC_000006.11:g.(?_123581737)_(123581803_?)del
NC_000006.11:g.(?_123637582)_(123673751_?)dup
NC_000006.11:g.(?_123637592)_(123637650_?)del
NC_000006.11:g.(?_123658744)_(123760168_?)dup
NC_000006.11:g.(?_123687260)_(123687347_?)del
NC_000006.11:g.(?_123703243)_(123703312_?)del
NC_000006.11:g.(?_123714759)_(123786138_?)dup
NC_000006.11:g.(?_123759188)_(123760168_?)del
NC_000006.11:g.(?_123786031)_(123786148_?)del
NC_000006.11:g.(?_123786031)_(123786148_?)dup
NC_000006.11:g.(?_123818318)_(123825066_?)del
NC_000006.11:g.(?_123833428)_(123837371_?)del
NC_000006.11:g.(?_123851631)_(123851730_?)del
NC_000006.11:g.(?_123851631)_(123868537_?)del
NC_000006.11:g.(?_7542149)_(7542338_?)dup
NC_000006.11:g.(?_7542149)_(7880576_?)dup
NC_000006.11:g.(?_7579782)_(7581194_?)del
NC_000006.12:g.(?_123218591)_(123224141_?)del
NC_000006.12:g.(?_123438043)_(123465003_?)del
NC_000006.12:g.(?_123497183)_(123512372_?)dup
NC_000010.10:g.(?_67680088)_(67680395_?)del
NC_000010.10:g.(?_67680088)_(68535302_?)dup
NC_000010.10:g.(?_67726350)_(67748575_?)del
NC_000010.10:g.(?_67829046)_(68139130_?)dup
NC_000010.10:g.(?_67829046)_(68280551_?)del
NC_000010.10:g.(?_67829056)_(67829257_?)del
NC_000010.10:g.(?_67862895)_(67863027_?)del
NC_000010.10:g.(?_67862905)_(68535292_?)del
NC_000010.10:g.(?_68040208)_(68040399_?)dup
NC_000010.10:g.(?_68040208)_(68381562_?)dup
NC_000010.10:g.(?_68040218)_(68040389_?)del
NC_000010.10:g.(?_68138890)_(68280551_?)del
NC_000010.10:g.(?_68138890)_(68381562_?)dup
NC_000010.10:g.(?_68280355)_(68280551_?)dup
NC_000010.10:g.(?_68280355)_(68526194_?)del
NC_000010.10:g.(?_68280355)_(68535302_?)del
NC_000010.10:g.(?_68280355)_(68535302_?)dup
NC_000010.10:g.(?_68381430)_(68526194_?)del
NC_000010.10:g.(?_68381430)_(68535302_?)del
NC_000010.10:g.(?_68381430)_(69407271_?)dup
NC_000010.10:g.(?_68507421)_(68526194_?)del
NC_000010.10:g.(?_68535192)_(68535292_?)del
NC_000010.10:g.(?_68940055)_(68940298_?)dup
NC_000010.10:g.(?_68940065)_(68940288_?)dup
NC_000010.10:g.(?_68940069)_(68979634_?)dup
NC_000010.10:g.(?_69281580)_(69407271_?)del
NC_000010.10:g.(?_69366595)_(69366827_?)del
NC_000010.10:g.(?_69366595)_(69407271_?)dup
NC_000010.10:g.(?_69366605)_(69366817_?)del
NC_000010.10:g.(?_69366605)_(69407286_?)dup
NC_000010.11:g.(?_66280450)_(66280641_?)del
NC_000010.11:g.(?_66379132)_(66379372_?)del
NC_000010.11:g.(?_66520597)_(66520793_?)del
NC_000010.11:g.(?_66520597)_(66621804_?)del
NC_000010.11:g.(?_66520607)_(66520783_?)del
NC_000010.11:g.(?_66520607)_(66621794_?)del
NC_000010.11:g.(?_66520607)_(66775534_?)del
NC_000010.11:g.(?_66621672)_(66621804_?)del
NC_000010.11:g.(?_66621682)_(66621794_?)del
NC_000010.11:g.(?_66621682)_(66775534_?)del
NC_000010.11:g.(?_66766244)_(66775544_?)del
NC_000010.11:g.(?_66766254)_(66775534_?)del
NC_000010.11:g.(?_66775424)_(66775544_?)del
NC_000010.11:g.(?_67539493)_(67539679_?)del
NC_000010.11:g.67606900_67606901insAlu
NC_000012.11:g.(?_32729272)_(33049685_?)dup
NC_000012.11:g.(?_32729292)_(33049665_?)dup
NC_000012.11:g.(?_32772622)_(33049675_?)dup
NC_000012.11:g.(?_32945348)_(33049675_?)dup
NC_000012.11:g.(?_32945358)_(32945685_?)del
NC_000012.11:g.(?_32945358)_(32949252_?)dup
NC_000012.11:g.(?_33021841)_(33049665_?)dup
NC_000012.11:g.(?_33021841)_(33049685_?)dup
NC_000012.11:g.(?_33049423)_(33049665_?)dup
NC_000012.12:g.(?_32792414)_(32796308_?)dup
NC_000012.12:g.32896640_32896911del
NC_000017.10:g.(?_39911986)_(39928116_?)dup
NC_000018.10:g.(?_31498242)_(31598685_?)dup
NC_000018.9:g.(?_28647961)_(28681954_?)dup
NC_000018.9:g.(?_28647971)_(28673616_?)dup
NC_000018.9:g.(?_28647981)_(28681934_?)dup
NC_000018.9:g.(?_29078215)_(29178638_?)dup
NC_000018.9:g.(?_29098182)_(29178638_?)dup
NC_000018.9:g.(?_29118704)_(29126716_?)dup
NC_000018.9:g.(?_29122463)_(29122835_?)del
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro) rs770443705
NM_001005242.3(PKP2):c.1019C>T (p.Thr340Ile) rs1592762999
NM_001005242.3(PKP2):c.101C>G (p.Ser34Cys) rs1957128054
NM_001005242.3(PKP2):c.1033G>A (p.Gly345Arg) rs1592762989
NM_001005242.3(PKP2):c.1034+4del rs397516983
NM_001005242.3(PKP2):c.1034G>A (p.Gly345Glu)
NM_001005242.3(PKP2):c.1039G>A (p.Ala347Thr) rs1164976319
NM_001005242.3(PKP2):c.1046T>G (p.Met349Arg)
NM_001005242.3(PKP2):c.1048G>A (p.Glu350Lys) rs147264025
NM_001005242.3(PKP2):c.1058T>C (p.Leu353Pro) rs1956875248
NM_001005242.3(PKP2):c.1066G>C (p.Ala356Pro) rs1956875094
NM_001005242.3(PKP2):c.1073G>A (p.Ser358Asn) rs1215591759
NM_001005242.3(PKP2):c.1075A>G (p.Met359Val) rs1336886985
NM_001005242.3(PKP2):c.107C>T (p.Ala36Val)
NM_001005242.3(PKP2):c.1081G>A (p.Glu361Lys)
NM_001005242.3(PKP2):c.1090C>T (p.His364Tyr) rs2137919820
NM_001005242.3(PKP2):c.10C>A (p.Pro4Thr)
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr) rs200586695
NM_001005242.3(PKP2):c.1117G>A (p.Ala373Thr) rs2137919581
NM_001005242.3(PKP2):c.1120G>T (p.Ala374Ser)
NM_001005242.3(PKP2):c.1123A>T (p.Thr375Ser) rs2137919547
NM_001005242.3(PKP2):c.1126_1131dup (p.Ile377_Gln378insPheIle)
NM_001005242.3(PKP2):c.1133A>G (p.Gln378Arg) rs1956873618
NM_001005242.3(PKP2):c.1133A>T (p.Gln378Leu) rs1956873618
NM_001005242.3(PKP2):c.1139A>C (p.Glu380Ala)
NM_001005242.3(PKP2):c.1140G>T (p.Glu380Asp)
NM_001005242.3(PKP2):c.1163G>C (p.Arg388Pro) rs756000218
NM_001005242.3(PKP2):c.1170+3G>A rs1956872807
NM_001005242.3(PKP2):c.1170+3G>C
NM_001005242.3(PKP2):c.1170+4_1170+5del rs2137919094
NM_001005242.3(PKP2):c.1170+4_1170+7del rs397516988
NM_001005242.3(PKP2):c.1170+5G>A rs794729105
NM_001005242.3(PKP2):c.1170+5G>T rs794729105
NM_001005242.3(PKP2):c.1177C>A (p.Gln393Lys)
NM_001005242.3(PKP2):c.1184G>A (p.Arg395His) rs773611613
NM_001005242.3(PKP2):c.1189A>T (p.Ile397Phe)
NM_001005242.3(PKP2):c.118C>G (p.Leu40Val) rs1039022167
NM_001005242.3(PKP2):c.1231G>T (p.Val411Phe) rs192041220
NM_001005242.3(PKP2):c.1237C>G (p.Arg413Gly)
NM_001005242.3(PKP2):c.1244T>G (p.Val415Gly) rs1335415987
NM_001005242.3(PKP2):c.1256T>C (p.Leu419Ser) rs1265030036
NM_001005242.3(PKP2):c.125G>A (p.Gly42Glu)
NM_001005242.3(PKP2):c.1286A>G (p.Asn429Ser) rs2137862708
NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln) rs1956689490
NM_001005242.3(PKP2):c.1297G>A (p.Val433Met)
NM_001005242.3(PKP2):c.130_131delinsCC (p.Ser44Pro)
NM_001005242.3(PKP2):c.131G>A (p.Ser44Asn)
NM_001005242.3(PKP2):c.1332G>C (p.Gln444His)
NM_001005242.3(PKP2):c.1345A>G (p.Thr449Ala) rs2137862264
NM_001005242.3(PKP2):c.1361C>T (p.Thr454Ile) rs2137862174
NM_001005242.3(PKP2):c.1366A>C (p.Lys456Gln) rs1555145493
NM_001005242.3(PKP2):c.1367A>G (p.Lys456Arg) rs750897570
NM_001005242.3(PKP2):c.1369C>A (p.Gln457Lys) rs1956688410
NM_001005242.3(PKP2):c.1373T>A (p.Ile458Lys) rs1036553117
NM_001005242.3(PKP2):c.1377A>G (p.Thr459=) rs1565590176
NM_001005242.3(PKP2):c.1378+5T>C rs767415624
NM_001005242.3(PKP2):c.1379-1980C>G
NM_001005242.3(PKP2):c.1379-1984C>G rs759017992
NM_001005242.3(PKP2):c.1379-1986G>T rs1956614139
NM_001005242.3(PKP2):c.1379-1989C>T
NM_001005242.3(PKP2):c.1379-1990G>T
NM_001005242.3(PKP2):c.1379-1994A>G
NM_001005242.3(PKP2):c.1379-2004G>A
NM_001005242.3(PKP2):c.1379-2010A>G rs1382350974
NM_001005242.3(PKP2):c.1379-2010A>T
NM_001005242.3(PKP2):c.1379-2021G>T rs2137837919
NM_001005242.3(PKP2):c.1379-2027A>G rs778247181
NM_001005242.3(PKP2):c.1379-2039C>T rs1257306156
NM_001005242.3(PKP2):c.1379-2040A>G
NM_001005242.3(PKP2):c.1379-2043A>G rs1188858368
NM_001005242.3(PKP2):c.1379-2045C>T rs557373206
NM_001005242.3(PKP2):c.1379-2056C>G
NM_001005242.3(PKP2):c.1379-2058C>T
NM_001005242.3(PKP2):c.1379-2060C>G rs1565587911
NM_001005242.3(PKP2):c.1379-2081A>G rs2137838328
NM_001005242.3(PKP2):c.1379-2088A>G rs2137838364
NM_001005242.3(PKP2):c.1379-2105A>G rs376606525
NM_001005242.3(PKP2):c.1379G>A (p.Gly460Asp) rs755399089
NM_001005242.3(PKP2):c.1385T>C (p.Leu462Pro)
NM_001005242.3(PKP2):c.1390A>C (p.Asn464His)
NM_001005242.3(PKP2):c.139GGC[3] (p.Gly48dup) rs944330366
NM_001005242.3(PKP2):c.1400C>T (p.Ser467Phe) rs1287872807
NM_001005242.3(PKP2):c.1409A>G (p.Lys470Arg)
NM_001005242.3(PKP2):c.1411C>G (p.Leu471Val) rs878854708
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg) rs749926313
NM_001005242.3(PKP2):c.1423A>C (p.Met475Leu)
NM_001005242.3(PKP2):c.1427T>A (p.Ile476Lys) rs762789806
NM_001005242.3(PKP2):c.1432G>A (p.Glu478Lys) rs1956588010
NM_001005242.3(PKP2):c.1435G>T (p.Ala479Ser) rs766622938
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg) rs397516998
NM_001005242.3(PKP2):c.1448T>G (p.Leu483Arg) rs397517000
NM_001005242.3(PKP2):c.1465A>G (p.Ile489Val) rs1956587369
NM_001005242.3(PKP2):c.1478G>T (p.Gly493Val)
NM_001005242.3(PKP2):c.1489G>A (p.Gly497Arg) rs2137830279
NM_001005242.3(PKP2):c.1493_1498del (p.Asp498_Pro500delinsAla)
NM_001005242.3(PKP2):c.1511G>T (p.Gly504Val) rs1592746320
NM_001005242.3(PKP2):c.1538A>G (p.Asn513Ser) rs2137829917
NM_001005242.3(PKP2):c.1544C>T (p.Thr515Ile)
NM_001005242.3(PKP2):c.1565G>T (p.Ser522Ile) rs1478657141
NM_001005242.3(PKP2):c.156G>C (p.Lys52Asn) rs201210997
NM_001005242.3(PKP2):c.1573G>A (p.Gly525Ser) rs1956410714
NM_001005242.3(PKP2):c.1586G>A (p.Arg529Lys) rs1555143136
NM_001005242.3(PKP2):c.1592C>T (p.Ala531Val)
NM_001005242.3(PKP2):c.1594A>T (p.Met532Leu) rs1298544159
NM_001005242.3(PKP2):c.1597AGA[1] (p.Arg534del) rs1956409943
NM_001005242.3(PKP2):c.159C>A (p.Ser53Arg) rs770694213
NM_001005242.3(PKP2):c.1609G>A (p.Gly537Arg)
NM_001005242.3(PKP2):c.1612C>T (p.Leu538Phe) rs794729134
NM_001005242.3(PKP2):c.1613T>C (p.Leu538Pro) rs1565581687
NM_001005242.3(PKP2):c.1616T>C (p.Ile539Thr) rs1956409566
NM_001005242.3(PKP2):c.1631A>G (p.His544Arg) rs1956409116
NM_001005242.3(PKP2):c.1636G>A (p.Val546Ile) rs1475361697
NM_001005242.3(PKP2):c.163C>T (p.Arg55Trp)
NM_001005242.3(PKP2):c.1649T>A (p.Ile550Asn) rs1592738583
NM_001005242.3(PKP2):c.1649T>C (p.Ile550Thr)
NM_001005242.3(PKP2):c.1663C>A (p.Pro555Thr) rs771808028
NM_001005242.3(PKP2):c.1675G>A (p.Ala559Thr) rs2137778289
NM_001005242.3(PKP2):c.1690G>A (p.Val564Met) rs1565581029
NM_001005242.3(PKP2):c.1708C>A (p.Leu570Ile) rs1956392355
NM_001005242.3(PKP2):c.1709T>C (p.Leu570Pro)
NM_001005242.3(PKP2):c.1714T>C (p.Tyr572His)
NM_001005242.3(PKP2):c.1726G>A (p.Ala576Thr)
NM_001005242.3(PKP2):c.1727C>A (p.Ala576Glu) rs2137777851
NM_001005242.3(PKP2):c.1729G>A (p.Glu577Lys)
NM_001005242.3(PKP2):c.1732C>T (p.Leu578Phe)
NM_001005242.3(PKP2):c.173A>G (p.Glu58Gly)
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn) rs794729112
NM_001005242.3(PKP2):c.1748C>T (p.Ser583Phe) rs769817013
NM_001005242.3(PKP2):c.1756A>G (p.Ile586Val)
NM_001005242.3(PKP2):c.175C>G (p.Gln59Glu) rs1957126844
NM_001005242.3(PKP2):c.1771C>T (p.Arg591Trp) rs778928536
NM_001005242.3(PKP2):c.1782G>T (p.Gln594His)
NM_001005242.3(PKP2):c.1788CAA[2] (p.Asn598del) rs750084387
NM_001005242.3(PKP2):c.1804G>A (p.Gly602Arg) rs960192135
NM_001005242.3(PKP2):c.182A>G (p.Gln61Arg)
NM_001005242.3(PKP2):c.1831G>T (p.Val611Leu) rs1003410304
NM_001005242.3(PKP2):c.1839+6T>C rs985611212
NM_001005242.3(PKP2):c.1839+6T>G
NM_001005242.3(PKP2):c.1840-10G>A rs768000598
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met) rs770909247
NM_001005242.3(PKP2):c.1856C>A (p.Pro619Gln)
NM_001005242.3(PKP2):c.1856C>T (p.Pro619Leu) rs1056066633
NM_001005242.3(PKP2):c.1862C>G (p.Pro621Arg) rs773061639
NM_001005242.3(PKP2):c.1870A>G (p.Lys624Glu)
NM_001005242.3(PKP2):c.1876A>G (p.Asn626Asp) rs2137773947
NM_001005242.3(PKP2):c.1878C>A (p.Asn626Lys) rs769943903
NM_001005242.3(PKP2):c.1879C>T (p.Pro627Ser) rs1956377569
NM_001005242.3(PKP2):c.1882A>G (p.Lys628Glu)
NM_001005242.3(PKP2):c.1893G>T (p.Glu631Asp) rs879110663
NM_001005242.3(PKP2):c.1912G>T (p.Val638Phe) rs2137773553
NM_001005242.3(PKP2):c.1925A>G (p.Tyr642Cys) rs1291783957
NM_001005242.3(PKP2):c.1942A>G (p.Lys648Glu)
NM_001005242.3(PKP2):c.1961C>A (p.Thr654Lys) rs1592737188
NM_001005242.3(PKP2):c.1981G>A (p.Ala661Thr) rs1199864691
NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe) rs397517018
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met) rs397517016
NM_001005242.3(PKP2):c.199A>C (p.Lys67Gln)
NM_001005242.3(PKP2):c.199A>G (p.Lys67Glu) rs1555149950
NM_001005242.3(PKP2):c.2003G>A (p.Gly668Glu) rs1348373466
NM_001005242.3(PKP2):c.2003G>C (p.Gly668Ala) rs1348373466
NM_001005242.3(PKP2):c.2006G>A (p.Ser669Asn)
NM_001005242.3(PKP2):c.2008G>A (p.Gly670Arg)
NM_001005242.3(PKP2):c.200A>G (p.Lys67Arg) rs1957126196
NM_001005242.3(PKP2):c.2013+5G>A
NM_001005242.3(PKP2):c.2013+6T>A rs1592737126
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=) rs1956373944
NM_001005242.3(PKP2):c.2014-3C>T rs2137725939
NM_001005242.3(PKP2):c.2014A>T (p.Met672Leu)
NM_001005242.3(PKP2):c.201G>A (p.Lys67=) rs1957126171
NM_001005242.3(PKP2):c.2036C>T (p.Thr679Ile)
NM_001005242.3(PKP2):c.2042T>A (p.Val681Asp) rs1227501219
NM_001005242.3(PKP2):c.206G>T (p.Arg69Leu) rs1388260138
NM_001005242.3(PKP2):c.2077A>G (p.Met693Val)
NM_001005242.3(PKP2):c.2083C>T (p.His695Tyr)
NM_001005242.3(PKP2):c.2086G>A (p.Val696Ile) rs1956191269
NM_001005242.3(PKP2):c.2087T>A (p.Val696Asp)
NM_001005242.3(PKP2):c.2089G>C (p.Gly697Arg) rs2137725489
NM_001005242.3(PKP2):c.208A>G (p.Ser70Gly)
NM_001005242.3(PKP2):c.2097_2099dup (p.Pro699_Ser700insArg) rs1324822103
NM_001005242.3(PKP2):c.2098A>G (p.Ser700Gly)
NM_001005242.3(PKP2):c.2101G>T (p.Val701Leu) rs757159896
NM_001005242.3(PKP2):c.2113_2114delinsAT (p.Ala705Ile) rs1565574704
NM_001005242.3(PKP2):c.2119T>C (p.Ser707Pro) rs1592729555
NM_001005242.3(PKP2):c.2126T>A (p.Leu709Gln)
NM_001005242.3(PKP2):c.212C>G (p.Ser71Cys)
NM_001005242.3(PKP2):c.2138C>A (p.Ser713Tyr) rs1956190526
NM_001005242.3(PKP2):c.214G>T (p.Val72Leu) rs397517019
NM_001005242.3(PKP2):c.2153T>G (p.Leu718Arg)
NM_001005242.3(PKP2):c.2166T>C (p.Ile722=)
NM_001005242.3(PKP2):c.2166T>G (p.Ile722Met) rs1442934924
NM_001005242.3(PKP2):c.2167+11A>G rs551378645
NM_001005242.3(PKP2):c.2167+3G>T rs2137725110
NM_001005242.3(PKP2):c.2171A>G (p.Lys724Arg)
NM_001005242.3(PKP2):c.2175A>T (p.Glu725Asp)
NM_001005242.3(PKP2):c.2177C>T (p.Thr726Ile) rs2137708917
NM_001005242.3(PKP2):c.2186A>C (p.Asp729Ala) rs1956123004
NM_001005242.3(PKP2):c.218G>C (p.Gly73Ala)
NM_001005242.3(PKP2):c.2193_2198del (p.Ser732_Ile733del)
NM_001005242.3(PKP2):c.2195C>T (p.Ser732Phe)
NM_001005242.3(PKP2):c.2197A>G (p.Ile733Val) rs749907181
NM_001005242.3(PKP2):c.2203C>G (p.Pro735Ala)
NM_001005242.3(PKP2):c.2221A>G (p.Thr741Ala)
NM_001005242.3(PKP2):c.2222C>T (p.Thr741Ile)
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg) rs145553222
NM_001005242.3(PKP2):c.223+6T>G rs755600420
NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn) rs543233804
NM_001005242.3(PKP2):c.2236G>A (p.Glu746Lys) rs2137708520
NM_001005242.3(PKP2):c.224-3C>A
NM_001005242.3(PKP2):c.224-3C>G rs786204387
NM_001005242.3(PKP2):c.2251G>A (p.Ala751Thr)
NM_001005242.3(PKP2):c.2251G>C (p.Ala751Pro)
NM_001005242.3(PKP2):c.2251G>T (p.Ala751Ser)
NM_001005242.3(PKP2):c.2261_2269del (p.Thr754_Asn756del) rs1270283587
NM_001005242.3(PKP2):c.2272A>G (p.Ile758Val) rs1956121104
NM_001005242.3(PKP2):c.2273T>C (p.Ile758Thr)
NM_001005242.3(PKP2):c.2277C>G (p.Ile759Met) rs1956120923
NM_001005242.3(PKP2):c.2288A>T (p.Tyr763Phe) rs2137708194
NM_001005242.3(PKP2):c.2292G>C (p.Gln764His)
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys) rs139734328
NM_001005242.3(PKP2):c.2300G>C (p.Arg767Pro) rs533884071
NM_001005242.3(PKP2):c.230T>C (p.Leu77Pro) rs754446972
NM_001005242.3(PKP2):c.2318G>A (p.Gly773Glu) rs1956119815
NM_001005242.3(PKP2):c.2320G>A (p.Gly774Ser) rs1592726250
NM_001005242.3(PKP2):c.2321G>A (p.Gly774Asp) rs1192534020
NM_001005242.3(PKP2):c.2321G>T (p.Gly774Val) rs1192534020
NM_001005242.3(PKP2):c.2323A>T (p.Ile775Phe)
NM_001005242.3(PKP2):c.2326C>A (p.Gln776Lys)
NM_001005242.3(PKP2):c.2356G>A (p.Ala786Thr) rs768463319
NM_001005242.3(PKP2):c.2357+5G>A rs1555141020
NM_001005242.3(PKP2):c.2357+6T>A rs1956118785
NM_001005242.3(PKP2):c.2357+6T>G
NM_001005242.3(PKP2):c.2357C>T (p.Ala786Val)
NM_001005242.3(PKP2):c.2358-3C>G rs1565571096
NM_001005242.3(PKP2):c.2358C>T (p.Ala786=) rs1555140707
NM_001005242.3(PKP2):c.2362G>T (p.Ala788Ser) rs1956082270
NM_001005242.3(PKP2):c.2368A>G (p.Asn790Asp)
NM_001005242.3(PKP2):c.2369A>G (p.Asn790Ser)
NM_001005242.3(PKP2):c.2370C>G (p.Asn790Lys) rs775519219
NM_001005242.3(PKP2):c.2374G>A (p.Ala792Thr)
NM_001005242.3(PKP2):c.2375C>A (p.Ala792Glu) rs759322948
NM_001005242.3(PKP2):c.2380A>G (p.Lys794Glu) rs1247384437
NM_001005242.3(PKP2):c.2383G>A (p.Ala795Thr)
NM_001005242.3(PKP2):c.2384C>T (p.Ala795Val)
NM_001005242.3(PKP2):c.2387C>T (p.Ala796Val) rs267603440
NM_001005242.3(PKP2):c.2399T>C (p.Leu800Pro) rs794729100
NM_001005242.3(PKP2):c.2402A>T (p.Tyr801Phe) rs1060501187
NM_001005242.3(PKP2):c.2404T>C (p.Ser802Pro) rs1183143350
NM_001005242.3(PKP2):c.2405C>A (p.Ser802Tyr) rs768808114
NM_001005242.3(PKP2):c.2422G>A (p.Glu808Lys) rs727505312
NM_001005242.3(PKP2):c.2445+3A>G rs1956080399
NM_001005242.3(PKP2):c.2446-3A>G rs1956078300
NM_001005242.3(PKP2):c.2446-8T>G rs794729101
NM_001005242.3(PKP2):c.2455A>C (p.Lys819Gln) rs1235732912
NM_001005242.3(PKP2):c.2461A>G (p.Thr821Ala)
NM_001005242.3(PKP2):c.2462C>T (p.Thr821Ile)
NM_001005242.3(PKP2):c.2466_2469del (p.Asp822fs) rs1956077836
NM_001005242.3(PKP2):c.2470G>A (p.Val824Ile)
NM_001005242.3(PKP2):c.2471T>G (p.Val824Gly)
NM_001005242.3(PKP2):c.2473A>G (p.Asn825Asp)
NM_001005242.3(PKP2):c.2474A>C (p.Asn825Thr)
NM_001005242.3(PKP2):c.2485G>A (p.Ala829Thr)
NM_001005242.3(PKP2):c.2489A>G (p.Lys830Arg) rs1956077369
NM_001005242.3(PKP2):c.2501C>T (p.Ser834Phe) rs1216433436
NM_001005242.3(PKP2):c.2504T>G (p.Leu835Arg) rs775572104
NM_001005242.3(PKP2):c.250C>T (p.Pro84Ser) rs756468173
NM_001005242.3(PKP2):c.253G>A (p.Glu85Lys) rs2137953226
NM_001005242.3(PKP2):c.257A>G (p.Tyr86Cys)
NM_001005242.3(PKP2):c.265A>T (p.Asn89Tyr) rs1335621190
NM_001005242.3(PKP2):c.274T>G (p.Leu92Val) rs773851296
NM_001005242.3(PKP2):c.275T>C (p.Leu92Ser)
NM_001005242.3(PKP2):c.278T>G (p.Val93Gly) rs2137952929
NM_001005242.3(PKP2):c.28T>C (p.Tyr10His) rs1237779872
NM_001005242.3(PKP2):c.302G>T (p.Arg101Leu)
NM_001005242.3(PKP2):c.305C>T (p.Ser102Phe) rs990377209
NM_001005242.3(PKP2):c.307C>G (p.Pro103Ala) rs139215336
NM_001005242.3(PKP2):c.307C>T (p.Pro103Ser) rs139215336
NM_001005242.3(PKP2):c.313C>G (p.Pro105Ala) rs375035084
NM_001005242.3(PKP2):c.31G>T (p.Gly11Cys) rs1250140346
NM_001005242.3(PKP2):c.336G>A (p.Lys112=) rs2137952432
NM_001005242.3(PKP2):c.337G>T (p.Ala113Ser)
NM_001005242.3(PKP2):c.343A>G (p.Thr115Ala)
NM_001005242.3(PKP2):c.359A>C (p.Glu120Ala)
NM_001005242.3(PKP2):c.365G>T (p.Arg122Leu) rs201306582
NM_001005242.3(PKP2):c.387G>T (p.Gln129His)
NM_001005242.3(PKP2):c.406G>T (p.Val136Leu) rs567795321
NM_001005242.3(PKP2):c.427C>T (p.His143Tyr)
NM_001005242.3(PKP2):c.428_430dup (p.His143dup) rs2137950571
NM_001005242.3(PKP2):c.433C>G (p.Leu145Val)
NM_001005242.3(PKP2):c.440G>C (p.Arg147Thr) rs1956955311
NM_001005242.3(PKP2):c.460A>G (p.Ser154Gly) rs1956955101
NM_001005242.3(PKP2):c.469G>A (p.Glu157Lys) rs1956954911
NM_001005242.3(PKP2):c.482A>G (p.Tyr161Cys)
NM_001005242.3(PKP2):c.488A>G (p.His163Arg)
NM_001005242.3(PKP2):c.514A>C (p.Ser172Arg) rs2137949935
NM_001005242.3(PKP2):c.523G>T (p.Gly175Trp) rs2137949835
NM_001005242.3(PKP2):c.527A>G (p.His176Arg) rs1380823797
NM_001005242.3(PKP2):c.536A>C (p.His179Pro) rs1371222715
NM_001005242.3(PKP2):c.53G>A (p.Gly18Asp)
NM_001005242.3(PKP2):c.549_551del (p.Ser183del) rs1358236902
NM_001005242.3(PKP2):c.56A>C (p.Gln19Pro)
NM_001005242.3(PKP2):c.584C>T (p.Ala195Val) rs1041783952
NM_001005242.3(PKP2):c.586C>T (p.Arg196Cys) rs748957791
NM_001005242.3(PKP2):c.592G>A (p.Glu198Lys) rs1040585677
NM_001005242.3(PKP2):c.596T>A (p.Ile199Asn)
NM_001005242.3(PKP2):c.59A>G (p.Gln20Arg) rs2138011134
NM_001005242.3(PKP2):c.613G>A (p.Ala205Thr)
NM_001005242.3(PKP2):c.629G>A (p.Arg210Lys) rs1555148132
NM_001005242.3(PKP2):c.635G>A (p.Arg212His) rs1369618463
NM_001005242.3(PKP2):c.635G>T (p.Arg212Leu)
NM_001005242.3(PKP2):c.647C>G (p.Thr216Arg) rs2137948919
NM_001005242.3(PKP2):c.655A>G (p.Arg219Gly) rs1309098966
NM_001005242.3(PKP2):c.656G>A (p.Arg219Lys)
NM_001005242.3(PKP2):c.659A>G (p.Gln220Arg)
NM_001005242.3(PKP2):c.671G>A (p.Gly224Asp) rs942876582
NM_001005242.3(PKP2):c.724A>G (p.Thr242Ala)
NM_001005242.3(PKP2):c.739G>C (p.Gly247Arg) rs1035589373
NM_001005242.3(PKP2):c.73C>G (p.Leu25Val) rs1555149974
NM_001005242.3(PKP2):c.746G>T (p.Ser249Ile) rs1085307949
NM_001005242.3(PKP2):c.749G>A (p.Arg250His) rs369332786
NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu) rs369332786
NM_001005242.3(PKP2):c.752G>A (p.Ser251Asn)
NM_001005242.3(PKP2):c.755T>C (p.Met252Thr)
NM_001005242.3(PKP2):c.764T>C (p.Leu255Pro)
NM_001005242.3(PKP2):c.766T>A (p.Leu256Met)
NM_001005242.3(PKP2):c.779A>G (p.Asn260Ser)
NM_001005242.3(PKP2):c.785T>C (p.Leu262Pro)
NM_001005242.3(PKP2):c.806G>A (p.Gly269Glu) rs1341619257
NM_001005242.3(PKP2):c.809A>G (p.Gln270Arg)
NM_001005242.3(PKP2):c.811G>A (p.Val271Ile) rs876657953
NM_001005242.3(PKP2):c.827C>T (p.Pro276Leu)
NM_001005242.3(PKP2):c.830T>G (p.Leu277Arg)
NM_001005242.3(PKP2):c.834G>C (p.Gln278His)
NM_001005242.3(PKP2):c.875A>C (p.Gln292Pro)
NM_001005242.3(PKP2):c.875A>G (p.Gln292Arg)
NM_001005242.3(PKP2):c.887A>C (p.His296Pro)
NM_001005242.3(PKP2):c.891C>G (p.Ser297Arg) rs2137947060
NM_001005242.3(PKP2):c.893C>T (p.Thr298Ile) rs753271708
NM_001005242.3(PKP2):c.896G>A (p.Arg299His) rs755425370
NM_001005242.3(PKP2):c.899C>T (p.Thr300Met) rs553098424
NM_001005242.3(PKP2):c.89T>A (p.Leu30Gln) rs1957128191
NM_001005242.3(PKP2):c.905G>A (p.Arg302Lys)
NM_001005242.3(PKP2):c.916C>A (p.Pro306Thr) rs1209340253
NM_001005242.3(PKP2):c.919A>G (p.Ser307Gly)
NM_001005242.3(PKP2):c.920G>T (p.Ser307Ile)
NM_001005242.3(PKP2):c.926_928dup (p.Ala309dup) rs869025497
NM_001005242.3(PKP2):c.928G>C (p.Val310Leu)
NM_001005242.3(PKP2):c.92_93insCCGCCCCCGCCCCCGGGCCCGACTGCGCGTGCCCGGCCGGAGCCGCGCCCCCTCCTCAGGGAAGGCCGG (p.Ala31_Leu32insArgProArgProArgAlaArgLeuArgValProGlyArgSerArgAlaProSerSerGlyLysAlaGly)
NM_001005242.3(PKP2):c.934T>C (p.Ser312Pro) rs756604557
NM_001005242.3(PKP2):c.940G>A (p.Gly314Arg) rs551812289
NM_001005242.3(PKP2):c.947G>A (p.Arg316Lys) rs1956947177
NM_001005242.3(PKP2):c.94C>A (p.Leu32Met)
NM_001005242.3(PKP2):c.95T>G (p.Leu32Arg) rs1011184194
NM_001005242.3(PKP2):c.964G>A (p.Gly322Ser) rs200069860
NM_001005242.3(PKP2):c.964G>C (p.Gly322Arg)
NM_001005242.3(PKP2):c.968A>G (p.Gln323Arg) rs879096591
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
NM_001005242.3(PKP2):c.971C>T (p.Ala324Val) rs529523595
NM_001005242.3(PKP2):c.976G>T (p.Ala326Ser)
NM_001005242.3(PKP2):c.977C>A (p.Ala326Glu) rs762949110
NM_001005242.3(PKP2):c.980G>A (p.Gly327Glu) rs759660796
NM_001005242.3(PKP2):c.980G>T (p.Gly327Val) rs759660796
NM_001005242.3(PKP2):c.983G>T (p.Gly328Val) rs144651139
NM_001005242.3(PKP2):c.985A>T (p.Ser329Cys) rs779173447
NM_001035.3(RYR2):c.*1_*5dup (p.Ter4968=) rs1252973606
NM_001035.3(RYR2):c.10017C>A (p.His3339Gln)
NM_001035.3(RYR2):c.10024G>C (p.Ala3342Pro) rs779445295
NM_001035.3(RYR2):c.10031_10034del (p.Ala3344fs)
NM_001035.3(RYR2):c.10035G>C (p.Arg3345Ser) rs754976419
NM_001035.3(RYR2):c.10035G>T (p.Arg3345Ser) rs754976419
NM_001035.3(RYR2):c.10042A>G (p.Met3348Val) rs2149067182
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.1005+1G>A rs1705774837
NM_001035.3(RYR2):c.1005+3G>A rs1705775231
NM_001035.3(RYR2):c.10051G>A (p.Ala3351Thr) rs1057524349
NM_001035.3(RYR2):c.10051G>T (p.Ala3351Ser) rs1057524349
NM_001035.3(RYR2):c.1005G>T (p.Lys335Asn) rs2150058766
NM_001035.3(RYR2):c.10067T>A (p.Leu3356Gln)
NM_001035.3(RYR2):c.10076T>C (p.Phe3359Ser)
NM_001035.3(RYR2):c.10084C>G (p.Leu3362Val)
NM_001035.3(RYR2):c.10093G>A (p.Asp3365Asn) rs1688609248
NM_001035.3(RYR2):c.100A>G (p.Lys34Glu) rs876661385
NM_001035.3(RYR2):c.10105T>C (p.Phe3369Leu)
NM_001035.3(RYR2):c.10121T>C (p.Ile3374Thr)
NM_001035.3(RYR2):c.10127T>A (p.Phe3376Tyr) rs876657983
NM_001035.3(RYR2):c.10142G>A (p.Arg3381Lys) rs1060500154
NM_001035.3(RYR2):c.10145C>G (p.Ala3382Gly) rs1688652177
NM_001035.3(RYR2):c.10171G>A (p.Glu3391Lys)
NM_001035.3(RYR2):c.10174G>T (p.Ala3392Ser) rs1325112585
NM_001035.3(RYR2):c.1017T>G (p.Asp339Glu)
NM_001035.3(RYR2):c.10189C>G (p.Arg3397Gly)
NM_001035.3(RYR2):c.10198G>T (p.Ala3400Ser)
NM_001035.3(RYR2):c.10205T>C (p.Val3402Ala) rs1553294519
NM_001035.3(RYR2):c.10299T>A (p.Thr3433=)
NM_001035.3(RYR2):c.102G>T (p.Lys34Asn)
NM_001035.3(RYR2):c.10310C>T (p.Ser3437Leu)
NM_001035.3(RYR2):c.10314G>T (p.Lys3438Asn) rs2149079692
NM_001035.3(RYR2):c.10315A>G (p.Met3439Val)
NM_001035.3(RYR2):c.10325C>T (p.Ala3442Val) rs727503403
NM_001035.3(RYR2):c.1032del (p.Glu345fs) rs1707880851
NM_001035.3(RYR2):c.1033G>C (p.Glu345Gln)
NM_001035.3(RYR2):c.10342G>C (p.Glu3448Gln) rs1553298016
NM_001035.3(RYR2):c.10348A>C (p.Lys3450Gln)
NM_001035.3(RYR2):c.10360C>G (p.Arg3454Gly)
NM_001035.3(RYR2):c.10364A>G (p.Lys3455Arg) rs1573649552
NM_001035.3(RYR2):c.10372C>T (p.Arg3458Trp)
NM_001035.3(RYR2):c.10376A>G (p.Tyr3459Cys)
NM_001035.3(RYR2):c.1037T>G (p.Val346Gly)
NM_001035.3(RYR2):c.10384C>T (p.Gln3462Ter)
NM_001035.3(RYR2):c.103C>G (p.Leu35Val) rs1689577425
NM_001035.3(RYR2):c.10405G>C (p.Ala3469Pro) rs759811978
NM_001035.3(RYR2):c.10414C>T (p.Arg3472Trp) rs1689344988
NM_001035.3(RYR2):c.10415G>A (p.Arg3472Gln)
NM_001035.3(RYR2):c.10427T>C (p.Ile3476Thr) rs764621718
NM_001035.3(RYR2):c.10430G>A (p.Gly3477Glu) rs1468634766
NM_001035.3(RYR2):c.10433T>C (p.Leu3478Ser)
NM_001035.3(RYR2):c.10438A>T (p.Ile3480Phe)
NM_001035.3(RYR2):c.10465A>G (p.Ile3489Val)
NM_001035.3(RYR2):c.10468G>A (p.Ala3490Thr)
NM_001035.3(RYR2):c.10478A>G (p.Lys3493Arg) rs2149100952
NM_001035.3(RYR2):c.10483C>T (p.Arg3495Ter) rs2149100975
NM_001035.3(RYR2):c.10491C>G (p.Ser3497Arg)
NM_001035.3(RYR2):c.10494+1G>T
NM_001035.3(RYR2):c.10495-9T>C
NM_001035.3(RYR2):c.10501A>G (p.Thr3501Ala) rs1689443133
NM_001035.3(RYR2):c.10502_10503delinsTT (p.Thr3501Ile) rs1558281668
NM_001035.3(RYR2):c.10505A>C (p.Glu3502Ala)
NM_001035.3(RYR2):c.10505A>G (p.Glu3502Gly)
NM_001035.3(RYR2):c.10524A>G (p.Ile3508Met) rs770094996
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser) rs201749277
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys) rs201749277
NM_001035.3(RYR2):c.10537A>G (p.Ile3513Val)
NM_001035.3(RYR2):c.1054T>C (p.Ser352Pro) rs2150146732
NM_001035.3(RYR2):c.10554+6C>A
NM_001035.3(RYR2):c.10555-2A>C
NM_001035.3(RYR2):c.10555-2A>G
NM_001035.3(RYR2):c.10555-3C>T rs1202806553
NM_001035.3(RYR2):c.10574G>A (p.Arg3525Lys) rs2149125484
NM_001035.3(RYR2):c.10591T>C (p.Tyr3531His) rs1689893434
NM_001035.3(RYR2):c.10616A>G (p.Asp3539Gly) rs1689895717
NM_001035.3(RYR2):c.10631C>G (p.Pro3544Arg) rs752032924
NM_001035.3(RYR2):c.10631C>T (p.Pro3544Leu) rs752032924
NM_001035.3(RYR2):c.10643T>C (p.Val3548Ala)
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly) rs1553300589
NM_001035.3(RYR2):c.10649G>C (p.Arg3550Thr) rs1689899254
NM_001035.3(RYR2):c.10651G>A (p.Val3551Ile)
NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr) rs1689900582
NM_001035.3(RYR2):c.10669G>C (p.Val3557Leu) rs2149125892
NM_001035.3(RYR2):c.10672C>A (p.Leu3558Ile) rs1689901276
NM_001035.3(RYR2):c.10672C>T (p.Leu3558Phe) rs1689901276
NM_001035.3(RYR2):c.10679A>G (p.His3560Arg)
NM_001035.3(RYR2):c.10690A>C (p.Lys3564Gln)
NM_001035.3(RYR2):c.10715A>G (p.His3572Arg)
NM_001035.3(RYR2):c.10725+2G>A
NM_001035.3(RYR2):c.10725+6T>C rs2149138948
NM_001035.3(RYR2):c.1073A>G (p.Asp358Gly) rs2150146849
NM_001035.3(RYR2):c.10741A>G (p.Arg3581Gly) rs1690263854
NM_001035.3(RYR2):c.10742G>A (p.Arg3581Lys) rs1390354432
NM_001035.3(RYR2):c.1075T>C (p.Ser359Pro)
NM_001035.3(RYR2):c.10765A>C (p.Lys3589Gln)
NM_001035.3(RYR2):c.10810C>T (p.Arg3604Trp)
NM_001035.3(RYR2):c.10811G>A (p.Arg3604Gln) rs56228594
NM_001035.3(RYR2):c.10817C>T (p.Ala3606Val)
NM_001035.3(RYR2):c.10825T>C (p.Tyr3609His)
NM_001035.3(RYR2):c.10829A>G (p.Asn3610Ser)
NM_001035.3(RYR2):c.1082G>A (p.Cys361Tyr) rs794728719
NM_001035.3(RYR2):c.10837A>G (p.Arg3613Gly) rs2149142608
NM_001035.3(RYR2):c.10839-8C>T rs2149159271
NM_001035.3(RYR2):c.10841A>T (p.His3614Leu)
NM_001035.3(RYR2):c.10860_10863del (p.Leu3621fs)
NM_001035.3(RYR2):c.10888G>C (p.Glu3630Gln) rs747565166
NM_001035.3(RYR2):c.10904A>G (p.Tyr3635Cys) rs886044331
NM_001035.3(RYR2):c.10916A>T (p.Lys3639Ile) rs1312457776
NM_001035.3(RYR2):c.10922T>C (p.Ile3641Thr) rs1060500145
NM_001035.3(RYR2):c.10933G>A (p.Ala3645Thr) rs1558304228
NM_001035.3(RYR2):c.10935+3A>C
NM_001035.3(RYR2):c.10935+4T>C
NM_001035.3(RYR2):c.10935+6T>C rs773965672
NM_001035.3(RYR2):c.10935A>G (p.Ala3645=) rs770623086
NM_001035.3(RYR2):c.1093C>G (p.His365Asp) rs2150146977
NM_001035.3(RYR2):c.10940C>T (p.Pro3647Leu) rs776678165
NM_001035.3(RYR2):c.10948G>C (p.Glu3650Gln) rs1690737524
NM_001035.3(RYR2):c.10952C>T (p.Pro3651Leu)
NM_001035.3(RYR2):c.1095T>A (p.His365Gln) rs1707886367
NM_001035.3(RYR2):c.10960G>C (p.Glu3654Gln)
NM_001035.3(RYR2):c.10963G>C (p.Asp3655His)
NM_001035.3(RYR2):c.10969G>A (p.Gly3657Ser) rs1476256919
NM_001035.3(RYR2):c.10984G>C (p.Asp3662His)
NM_001035.3(RYR2):c.10994A>G (p.His3665Arg)
NM_001035.3(RYR2):c.11003T>A (p.Ile3668Asn) rs1573718675
NM_001035.3(RYR2):c.11005C>T (p.Leu3669Phe)
NM_001035.3(RYR2):c.11014A>C (p.Ser3672Arg)
NM_001035.3(RYR2):c.11017C>T (p.Arg3673Trp) rs796052205
NM_001035.3(RYR2):c.11024C>A (p.Ala3675Asp)
NM_001035.3(RYR2):c.11024C>G (p.Ala3675Gly) rs794728770
NM_001035.3(RYR2):c.11030C>A (p.Thr3677Lys)
NM_001035.3(RYR2):c.11039+4del
NM_001035.3(RYR2):c.11039+6G>A rs779549361
NM_001035.3(RYR2):c.11068G>C (p.Ala3690Pro) rs751278951
NM_001035.3(RYR2):c.11069C>T (p.Ala3690Val)
NM_001035.3(RYR2):c.11087C>A (p.Ala3696Glu) rs1269339524
NM_001035.3(RYR2):c.11089A>G (p.Lys3697Glu)
NM_001035.3(RYR2):c.11091+5A>G
NM_001035.3(RYR2):c.11099A>G (p.His3700Arg)
NM_001035.3(RYR2):c.11116G>T (p.Asp3706Tyr) rs942040362
NM_001035.3(RYR2):c.11140T>G (p.Phe3714Val) rs794728771
NM_001035.3(RYR2):c.11145+5G>A rs1691689283
NM_001035.3(RYR2):c.11145A>C (p.Glu3715Asp) rs2149211578
NM_001035.3(RYR2):c.11150A>G (p.Lys3717Arg) rs1060500141
NM_001035.3(RYR2):c.11152G>T (p.Glu3718Ter)
NM_001035.3(RYR2):c.11164C>T (p.Gln3722Ter) rs2149261821
NM_001035.3(RYR2):c.11168A>C (p.Lys3723Thr) rs2149261830
NM_001035.3(RYR2):c.11169G>C (p.Lys3723Asn) rs1692948108
NM_001035.3(RYR2):c.11171T>G (p.Leu3724Arg) rs1692948283
NM_001035.3(RYR2):c.11176T>C (p.Tyr3726His) rs1692948665
NM_001035.3(RYR2):c.11181G>T (p.Gln3727His) rs773884612
NM_001035.3(RYR2):c.11188C>T (p.Arg3730Ter) rs2149261911
NM_001035.3(RYR2):c.11197G>A (p.Asp3733Asn) rs760307737
NM_001035.3(RYR2):c.1119_1122del (p.Tyr374fs) rs1707888448
NM_001035.3(RYR2):c.11207C>G (p.Ala3736Gly)
NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile) rs397516502
NM_001035.3(RYR2):c.11218G>T (p.Val3740Leu) rs536555602
NM_001035.3(RYR2):c.11237C>A (p.Ala3746Asp) rs1573821711
NM_001035.3(RYR2):c.11241C>G (p.Ser3747Arg) rs1692954847
NM_001035.3(RYR2):c.11243A>G (p.Lys3748Arg)
NM_001035.3(RYR2):c.11245+9C>A rs1692956819
NM_001035.3(RYR2):c.11246-3T>G rs761460667
NM_001035.3(RYR2):c.11246-6T>A rs2149266259
NM_001035.3(RYR2):c.11281C>T (p.Leu3761Phe)
NM_001035.3(RYR2):c.11288T>C (p.Ile3763Thr) rs1693078772
NM_001035.3(RYR2):c.11293A>G (p.Ile3765Val) rs767346230
NM_001035.3(RYR2):c.112G>A (p.Ala38Thr) rs747977592
NM_001035.3(RYR2):c.11301T>A (p.Asn3767Lys) rs1693079970
NM_001035.3(RYR2):c.11305G>A (p.Gly3769Arg)
NM_001035.3(RYR2):c.11312C>G (p.Ser3771Cys)
NM_001035.3(RYR2):c.11315C>T (p.Thr3772Ile)
NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg) rs2149266454
NM_001035.3(RYR2):c.11326A>G (p.Lys3776Glu) rs1558357338
NM_001035.3(RYR2):c.11329A>G (p.Met3777Val) rs2149272666
NM_001035.3(RYR2):c.11331G>T (p.Met3777Ile)
NM_001035.3(RYR2):c.11339A>G (p.Tyr3780Cys)
NM_001035.3(RYR2):c.11362G>A (p.Gly3788Ser) rs775471018
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser) rs397516504
NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg) rs397516504
NM_001035.3(RYR2):c.11399G>T (p.Cys3800Phe) rs1239093704
NM_001035.3(RYR2):c.113C>A (p.Ala38Glu) rs1689579128
NM_001035.3(RYR2):c.11402+4A>G rs1553313446
NM_001035.3(RYR2):c.11403T>C (p.Ser3801=) rs1261086877
NM_001035.3(RYR2):c.11420C>T (p.Ala3807Val)
NM_001035.3(RYR2):c.11432A>C (p.Gln3811Pro) rs1553313890
NM_001035.3(RYR2):c.11433A>C (p.Gln3811His)
NM_001035.3(RYR2):c.11470G>T (p.Gly3824Ter) rs2149277250
NM_001035.3(RYR2):c.11476+12_11476+37del
NM_001035.3(RYR2):c.1147A>G (p.Arg383Gly) rs1707894005
NM_001035.3(RYR2):c.11503T>G (p.Phe3835Val)
NM_001035.3(RYR2):c.11515C>G (p.Leu3839Val)
NM_001035.3(RYR2):c.11528T>C (p.Leu3843Pro)
NM_001035.3(RYR2):c.11536C>T (p.Leu3846Phe) rs1573882536
NM_001035.3(RYR2):c.11542G>A (p.Glu3848Lys) rs1060500166
NM_001035.3(RYR2):c.1154G>A (p.Gly385Glu)
NM_001035.3(RYR2):c.11557+3T>C
NM_001035.3(RYR2):c.1156T>C (p.Ser386Pro)
NM_001035.3(RYR2):c.11588G>A (p.Gly3863Asp) rs794728775
NM_001035.3(RYR2):c.11606A>G (p.Asn3869Ser) rs1246024470
NM_001035.3(RYR2):c.11611A>G (p.Ile3871Val)
NM_001035.3(RYR2):c.11615T>C (p.Ile3872Thr) rs2149314712
NM_001035.3(RYR2):c.11632C>G (p.Leu3878Val) rs1694316783
NM_001035.3(RYR2):c.11639G>A (p.Arg3880Lys) rs766515965
NM_001035.3(RYR2):c.11646+1G>T rs2149314836
NM_001035.3(RYR2):c.1166G>C (p.Arg389Pro) rs200685968
NM_001035.3(RYR2):c.11672A>G (p.Tyr3891Cys)
NM_001035.3(RYR2):c.11689G>C (p.Val3897Leu)
NM_001035.3(RYR2):c.1170+1G>C rs1707898107
NM_001035.3(RYR2):c.11710C>T (p.Arg3904Trp) rs998659755
NM_001035.3(RYR2):c.11711G>A (p.Arg3904Gln)
NM_001035.3(RYR2):c.11725G>A (p.Ala3909Thr)
NM_001035.3(RYR2):c.11756C>G (p.Thr3919Ser) rs1694434184
NM_001035.3(RYR2):c.1175T>C (p.Ile392Thr) rs1267247155
NM_001035.3(RYR2):c.11760del (p.Thr3921fs)
NM_001035.3(RYR2):c.11762C>G (p.Thr3921Arg)
NM_001035.3(RYR2):c.11765A>G (p.Glu3922Gly)
NM_001035.3(RYR2):c.11768A>G (p.Tyr3923Cys)
NM_001035.3(RYR2):c.11776-3C>T
NM_001035.3(RYR2):c.11779C>T (p.Pro3927Ser) rs2149335295
NM_001035.3(RYR2):c.1177A>T (p.Met393Leu)
NM_001035.3(RYR2):c.11794C>A (p.Gln3932Lys) rs2149335347
NM_001035.3(RYR2):c.1179G>A (p.Met393Ile) rs80313920
NM_001035.3(RYR2):c.11800A>T (p.Ser3934Cys)
NM_001035.3(RYR2):c.11827G>A (p.Ala3943Thr) rs762237329
NM_001035.3(RYR2):c.11833G>A (p.Val3945Ile)
NM_001035.3(RYR2):c.11848G>C (p.Val3950Leu)
NM_001035.3(RYR2):c.11880+3_11880+6del rs1694864201
NM_001035.3(RYR2):c.11908G>T (p.Glu3970Ter) rs2149344856
NM_001035.3(RYR2):c.11912_11915del (p.Leu3971fs)
NM_001035.3(RYR2):c.11916G>A (p.Met3972Ile) rs1308840171
NM_001035.3(RYR2):c.11917G>T (p.Asp3973Tyr)
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu) rs370103782
NM_001035.3(RYR2):c.11920C>A (p.Leu3974Met)
NM_001035.3(RYR2):c.11928G>T (p.Lys3976Asn) rs2149344926
NM_001035.3(RYR2):c.11939T>A (p.Val3980Asp) rs1573923041
NM_001035.3(RYR2):c.11946G>T (p.Leu3982Phe) rs2149344987
NM_001035.3(RYR2):c.11950T>C (p.Ser3984Pro) rs1695118126
NM_001035.3(RYR2):c.11954_11957dup (p.Leu3986fs)
NM_001035.3(RYR2):c.1195A>G (p.Met399Val) rs1708243371
NM_001035.3(RYR2):c.11962+1_11962+4dup rs2149345025
NM_001035.3(RYR2):c.11963G>A (p.Gly3988Asp)
NM_001035.3(RYR2):c.11967T>G (p.Asn3989Lys) rs2149351960
NM_001035.3(RYR2):c.11969T>C (p.Val3990Ala) rs1210976038
NM_001035.3(RYR2):c.1196T>C (p.Met399Thr) rs1708243535
NM_001035.3(RYR2):c.11971G>A (p.Val3991Ile)
NM_001035.3(RYR2):c.1197G>C (p.Met399Ile)
NM_001035.3(RYR2):c.11984T>C (p.Ile3995Thr)
NM_001035.3(RYR2):c.11986G>A (p.Gly3996Ser) rs1060500160
NM_001035.3(RYR2):c.11992C>T (p.Gln3998Ter) rs1558403704
NM_001035.3(RYR2):c.11G>T (p.Gly4Val) rs866878858
NM_001035.3(RYR2):c.12001G>A (p.Asp4001Asn) rs1553322501
NM_001035.3(RYR2):c.12001G>C (p.Asp4001His) rs1553322501
NM_001035.3(RYR2):c.12014A>G (p.Glu4005Gly) rs1695315832
NM_001035.3(RYR2):c.12022AAC[1] (p.Asn4009del) rs1573931958
NM_001035.3(RYR2):c.12026A>G (p.Asn4009Ser) rs1396528117
NM_001035.3(RYR2):c.12031G>A (p.Glu4011Lys) rs771155451
NM_001035.3(RYR2):c.12080C>T (p.Thr4027Met)
NM_001035.3(RYR2):c.12106G>A (p.Asp4036Asn) rs748216455
NM_001035.3(RYR2):c.12112G>A (p.Asp4038Asn)
NM_001035.3(RYR2):c.12116G>T (p.Gly4039Val) rs749706996
NM_001035.3(RYR2):c.12139G>C (p.Asp4047His) rs727505103
NM_001035.3(RYR2):c.12139G>T (p.Asp4047Tyr) rs727505103
NM_001035.3(RYR2):c.12142T>G (p.Phe4048Val)
NM_001035.3(RYR2):c.12179A>G (p.Gln4060Arg)
NM_001035.3(RYR2):c.12209C>T (p.Ala4070Val)
NM_001035.3(RYR2):c.12214A>C (p.Thr4072Pro) rs1558404448
NM_001035.3(RYR2):c.12235G>A (p.Asp4079Asn) rs868071612
NM_001035.3(RYR2):c.12244G>C (p.Glu4082Gln) rs774241742
NM_001035.3(RYR2):c.12245A>C (p.Glu4082Ala) rs1057524762
NM_001035.3(RYR2):c.12249C>A (p.Phe4083Leu) rs371599450
NM_001035.3(RYR2):c.12250G>A (p.Val4084Ile) rs1695339297
NM_001035.3(RYR2):c.12265G>A (p.Glu4089Lys)
NM_001035.3(RYR2):c.12271_12272delinsAG (p.Ala4091Arg) rs794728837
NM_001035.3(RYR2):c.12290A>G (p.Asn4097Ser) rs794728784
NM_001035.3(RYR2):c.1229A>G (p.His410Arg)
NM_001035.3(RYR2):c.1231G>A (p.Glu411Lys) rs866407992
NM_001035.3(RYR2):c.12320A>C (p.Glu4107Ala) rs2149353356
NM_001035.3(RYR2):c.12320A>T (p.Glu4107Val)
NM_001035.3(RYR2):c.12325A>C (p.Met4109Leu) rs730880196
NM_001035.3(RYR2):c.12326T>C (p.Met4109Thr) rs1373714510
NM_001035.3(RYR2):c.12327G>T (p.Met4109Ile)
NM_001035.3(RYR2):c.12333C>G (p.Asn4111Lys)
NM_001035.3(RYR2):c.12344T>G (p.Leu4115Arg)
NM_001035.3(RYR2):c.12348G>T (p.Gln4116His) rs2149353492
NM_001035.3(RYR2):c.12369G>T (p.Glu4123Asp) rs759484925
NM_001035.3(RYR2):c.12385T>C (p.Phe4129Leu) rs1573934226
NM_001035.3(RYR2):c.12385T>G (p.Phe4129Val) rs1573934226
NM_001035.3(RYR2):c.12386del (p.Phe4129fs)
NM_001035.3(RYR2):c.12401G>C (p.Gly4134Ala) rs1573934290
NM_001035.3(RYR2):c.12401G>T (p.Gly4134Val) rs1573934290
NM_001035.3(RYR2):c.12404G>T (p.Arg4135Leu) rs764202302
NM_001035.3(RYR2):c.12415A>G (p.Met4139Val) rs1199657338
NM_001035.3(RYR2):c.1241G>T (p.Arg414Leu) rs371121679
NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys) rs1298823746
NM_001035.3(RYR2):c.12458G>C (p.Ser4153Thr) rs999437630
NM_001035.3(RYR2):c.12458G>T (p.Ser4153Ile) rs999437630
NM_001035.3(RYR2):c.12487C>G (p.Pro4163Ala)
NM_001035.3(RYR2):c.12494T>C (p.Val4165Ala)
NM_001035.3(RYR2):c.1249C>T (p.Arg417Ter) rs564822776
NM_001035.3(RYR2):c.12510_12513dup (p.Phe4172fs) rs1553322884
NM_001035.3(RYR2):c.12519A>G (p.Ile4173Met) rs1553322892
NM_001035.3(RYR2):c.12521T>G (p.Phe4174Cys)
NM_001035.3(RYR2):c.12525C>A (p.Asp4175Glu) rs1347472531
NM_001035.3(RYR2):c.12530T>A (p.Val4177Asp) rs1553322906
NM_001035.3(RYR2):c.12530T>C (p.Val4177Ala) rs1553322906
NM_001035.3(RYR2):c.12532A>T (p.Asn4178Tyr) rs1481201233
NM_001035.3(RYR2):c.12535G>A (p.Glu4179Lys) rs867488053
NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala) rs794728788
NM_001035.3(RYR2):c.12549A>C (p.Lys4183Asn) rs760519665
NM_001035.3(RYR2):c.12568G>A (p.Val4190Met) rs1308975705
NM_001035.3(RYR2):c.12568G>C (p.Val4190Leu) rs1308975705
NM_001035.3(RYR2):c.12569T>A (p.Val4190Glu) rs1064794753
NM_001035.3(RYR2):c.12571A>G (p.Asn4191Asp)
NM_001035.3(RYR2):c.12574T>G (p.Phe4192Val)
NM_001035.3(RYR2):c.12580G>A (p.Glu4194Lys)
NM_001035.3(RYR2):c.12582G>A (p.Glu4194=) rs2149354363
NM_001035.3(RYR2):c.12589A>G (p.Ile4197Val) rs765238394
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val) rs794728792
NM_001035.3(RYR2):c.12614A>G (p.Gln4205Arg)
NM_001035.3(RYR2):c.12620C>T (p.Ser4207Leu) rs2149354495
NM_001035.3(RYR2):c.12637G>A (p.Glu4213Lys) rs1695373966
NM_001035.3(RYR2):c.12647C>A (p.Ala4216Glu)
NM_001035.3(RYR2):c.1264A>G (p.Thr422Ala) rs1350054663
NM_001035.3(RYR2):c.12655G>A (p.Glu4219Lys) rs1417926762
NM_001035.3(RYR2):c.12667A>G (p.Lys4223Glu)
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001035.3(RYR2):c.12679G>A (p.Glu4227Lys) rs2149354765
NM_001035.3(RYR2):c.12682G>A (p.Glu4228Lys)
NM_001035.3(RYR2):c.12692C>A (p.Pro4231Gln) rs1321340277
NM_001035.3(RYR2):c.12692dup (p.Arg4232fs)
NM_001035.3(RYR2):c.12697A>G (p.Met4233Val) rs2149354852
NM_001035.3(RYR2):c.12718A>G (p.Thr4240Ala)
NM_001035.3(RYR2):c.12720G>A (p.Thr4240=) rs774851947
NM_001035.3(RYR2):c.12730G>T (p.Ala4244Ser)
NM_001035.3(RYR2):c.12745A>T (p.Arg4249Trp) rs1695385129
NM_001035.3(RYR2):c.12773T>C (p.Met4258Thr)
NM_001035.3(RYR2):c.12775C>T (p.Leu4259Phe)
NM_001035.3(RYR2):c.12785A>G (p.Lys4262Arg)
NM_001035.3(RYR2):c.12791T>G (p.Leu4264Arg) rs2149355228
NM_001035.3(RYR2):c.1280A>G (p.Asn427Ser) rs753007912
NM_001035.3(RYR2):c.12857C>G (p.Ser4286Cys) rs2149355491
NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter) rs570414987
NM_001035.3(RYR2):c.12874A>G (p.Met4292Val)
NM_001035.3(RYR2):c.12880C>T (p.Leu4294Phe)
NM_001035.3(RYR2):c.12892G>A (p.Val4298Met) rs745927659
NM_001035.3(RYR2):c.12893T>C (p.Val4298Ala) rs984942880
NM_001035.3(RYR2):c.12898_12909del (p.Ser4300_Arg4303del)
NM_001035.3(RYR2):c.12901G>A (p.Val4301Ile) rs772007722
NM_001035.3(RYR2):c.1292+3A>G rs1572361996
NM_001035.3(RYR2):c.1292+4C>A
NM_001035.3(RYR2):c.12931A>C (p.Ser4311Arg) rs2149355805
NM_001035.3(RYR2):c.12946_12947del (p.Gly4316fs) rs2149355859
NM_001035.3(RYR2):c.12947G>T (p.Gly4316Val) rs1471117005
NM_001035.3(RYR2):c.12950G>T (p.Ser4317Ile)
NM_001035.3(RYR2):c.12960A>T (p.Glu4320Asp)
NM_001035.3(RYR2):c.12962G>T (p.Gly4321Val)
NM_001035.3(RYR2):c.12972G>T (p.Lys4324Asn)
NM_001035.3(RYR2):c.12980T>A (p.Val4327Asp)
NM_001035.3(RYR2):c.12980T>C (p.Val4327Ala)
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp) rs371680410
NM_001035.3(RYR2):c.129C>T (p.Gly43=) rs749566745
NM_001035.3(RYR2):c.13002G>A (p.Met4334Ile)
NM_001035.3(RYR2):c.13009C>A (p.Pro4337Thr)
NM_001035.3(RYR2):c.1300G>A (p.Asp434Asn) rs1658551806
NM_001035.3(RYR2):c.13012A>G (p.Thr4338Ala)
NM_001035.3(RYR2):c.13012A>T (p.Thr4338Ser)
NM_001035.3(RYR2):c.13018G>A (p.Asp4340Asn)
NM_001035.3(RYR2):c.13031G>A (p.Gly4344Glu)
NM_001035.3(RYR2):c.13044G>T (p.Glu4348Asp) rs559197657
NM_001035.3(RYR2):c.13049A>G (p.Glu4350Gly)
NM_001035.3(RYR2):c.13057C>G (p.Pro4353Ala)
NM_001035.3(RYR2):c.13067C>T (p.Ala4356Val) rs981875785
NM_001035.3(RYR2):c.13078T>G (p.Ser4360Ala) rs1420181587
NM_001035.3(RYR2):c.13081G>C (p.Glu4361Gln)
NM_001035.3(RYR2):c.1309A>G (p.Ser437Gly) rs1658552670
NM_001035.3(RYR2):c.13100A>G (p.Lys4367Arg) rs2149356442
NM_001035.3(RYR2):c.13114G>A (p.Glu4372Lys) rs1294591565
NM_001035.3(RYR2):c.13120G>A (p.Asp4374Asn)
NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu) rs869025514
NM_001035.3(RYR2):c.13163G>A (p.Gly4388Glu) rs1695420157
NM_001035.3(RYR2):c.13169A>G (p.Gln4390Arg) rs763987225
NM_001035.3(RYR2):c.1316A>C (p.Lys439Thr) rs1658553532
NM_001035.3(RYR2):c.13184C>T (p.Pro4395Leu) rs1695422438
NM_001035.3(RYR2):c.13187A>G (p.His4396Arg) rs1060500161
NM_001035.3(RYR2):c.13202G>A (p.Gly4401Glu)
NM_001035.3(RYR2):c.13218G>A (p.Met4406Ile)
NM_001035.3(RYR2):c.13224C>G (p.Asn4408Lys)
NM_001035.3(RYR2):c.13229T>C (p.Val4410Ala) rs748604898
NM_001035.3(RYR2):c.13234A>C (p.Met4412Leu) rs2149356919
NM_001035.3(RYR2):c.13234A>G (p.Met4412Val) rs2149356919
NM_001035.3(RYR2):c.1324G>C (p.Ala442Pro) rs747344666
NM_001035.3(RYR2):c.13260+14_13260+15delinsGG
NM_001035.3(RYR2):c.13264C>T (p.Gln4422Ter)
NM_001035.3(RYR2):c.13273A>G (p.Lys4425Glu) rs2149359920
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del) rs869025516
NM_001035.3(RYR2):c.13279G>A (p.Glu4427Lys) rs1695516581
NM_001035.3(RYR2):c.13280A>T (p.Glu4427Val)
NM_001035.3(RYR2):c.13288G>A (p.Glu4430Lys) rs2149359974
NM_001035.3(RYR2):c.13312G>C (p.Glu4438Gln)
NM_001035.3(RYR2):c.13315C>T (p.Pro4439Ser)
NM_001035.3(RYR2):c.13325C>T (p.Ala4442Val) rs1553324230
NM_001035.3(RYR2):c.13328+4T>C rs1356215434
NM_001035.3(RYR2):c.13337A>G (p.Asp4446Gly) rs2149367007
NM_001035.3(RYR2):c.13347AGA[4] (p.Glu4450_Glu4451dup) rs2149367035
NM_001035.3(RYR2):c.1334T>C (p.Val445Ala)
NM_001035.3(RYR2):c.13357G>C (p.Ala4453Pro) rs1573952018
NM_001035.3(RYR2):c.13358_13366del (p.Ala4453_Glu4455del)
NM_001035.3(RYR2):c.13361A>C (p.Lys4454Thr) rs1485986182
NM_001035.3(RYR2):c.1336G>A (p.Asp446Asn) rs748867973
NM_001035.3(RYR2):c.1336G>T (p.Asp446Tyr)
NM_001035.3(RYR2):c.13372G>C (p.Gly4458Arg)
NM_001035.3(RYR2):c.13376A>T (p.Lys4459Ile)
NM_001035.3(RYR2):c.13400C>T (p.Thr4467Ile) rs933184477
NM_001035.3(RYR2):c.13406G>A (p.Arg4469Lys) rs759882217
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala) rs1553325274
NM_001035.3(RYR2):c.13417C>A (p.Pro4473Thr) rs571824543
NM_001035.3(RYR2):c.13426C>T (p.Pro4476Ser) rs1277251368
NM_001035.3(RYR2):c.13448A>C (p.Lys4483Thr)
NM_001035.3(RYR2):c.13450_13453dup (p.Ile4485fs)
NM_001035.3(RYR2):c.13465C>A (p.Gln4489Lys) rs1657881640
NM_001035.3(RYR2):c.13475T>C (p.Leu4492Pro)
NM_001035.3(RYR2):c.13476+6A>T rs1457866950
NM_001035.3(RYR2):c.13490G>A (p.Arg4497His) rs867681818
NM_001035.3(RYR2):c.13496_13501del (p.Phe4499_Asn4501delinsTyr) rs2149379033
NM_001035.3(RYR2):c.13498T>C (p.Tyr4500His) rs2149379050
NM_001035.3(RYR2):c.13499A>C (p.Tyr4500Ser) rs1658370845
NM_001035.3(RYR2):c.13510A>C (p.Met4504Leu)
NM_001035.3(RYR2):c.13520T>C (p.Leu4507Ser) rs794728798
NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro) rs397516510
NM_001035.3(RYR2):c.13541A>G (p.Asn4514Ser) rs397516511
NM_001035.3(RYR2):c.13564-17T>C
NM_001035.3(RYR2):c.13569C>T (p.Ser4523=)
NM_001035.3(RYR2):c.13571C>T (p.Thr4524Ile)
NM_001035.3(RYR2):c.13573TCT[1] (p.Ser4526del) rs749495172
NM_001035.3(RYR2):c.1357A>T (p.Ser453Cys) rs1259104446
NM_001035.3(RYR2):c.13590A>T (p.Gly4530=)
NM_001035.3(RYR2):c.13597C>T (p.Leu4533Phe)
NM_001035.3(RYR2):c.13598T>C (p.Leu4533Pro) rs761272973
NM_001035.3(RYR2):c.13604C>G (p.Thr4535Arg) rs756839134
NM_001035.3(RYR2):c.13617T>G (p.Ser4539Arg) rs1553327067
NM_001035.3(RYR2):c.13625C>G (p.Ala4542Gly)
NM_001035.3(RYR2):c.13630G>A (p.Val4544Met) rs1235379196
NM_001035.3(RYR2):c.13643A>G (p.Asp4548Gly)
NM_001035.3(RYR2):c.13657A>G (p.Arg4553Gly)
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro) rs189345192
NM_001035.3(RYR2):c.13666G>T (p.Ala4556Ser) rs189345192
NM_001035.3(RYR2):c.13672C>G (p.His4558Asp)
NM_001035.3(RYR2):c.13687G>C (p.Glu4563Gln)
NM_001035.3(RYR2):c.13689G>T (p.Glu4563Asp) rs886039157
NM_001035.3(RYR2):c.13693A>G (p.Ser4565Gly) rs2149381504
NM_001035.3(RYR2):c.13695C>A (p.Ser4565Arg)
NM_001035.3(RYR2):c.136C>A (p.Leu46Ile) rs200643211
NM_001035.3(RYR2):c.13707G>C (p.Glu4569Asp)
NM_001035.3(RYR2):c.13711A>G (p.Thr4571Ala)
NM_001035.3(RYR2):c.13720A>T (p.Ile4574Phe)
NM_001035.3(RYR2):c.1372G>T (p.Asp458Tyr)
NM_001035.3(RYR2):c.13739C>T (p.Thr4580Met) rs1658469199
NM_001035.3(RYR2):c.1375C>G (p.Leu459Val) rs1658563996
NM_001035.3(RYR2):c.13771T>C (p.Tyr4591His)
NM_001035.3(RYR2):c.13774T>C (p.Cys4592Arg) rs1193389004
NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser) rs1558424746
NM_001035.3(RYR2):c.13782+7T>C
NM_001035.3(RYR2):c.13783-2A>G rs1553328145
NM_001035.3(RYR2):c.13783-6_13783-5delinsGC
NM_001035.3(RYR2):c.13783-9C>G rs1414090080
NM_001035.3(RYR2):c.13783G>A (p.Val4595Ile) rs1430303714
NM_001035.3(RYR2):c.1379T>C (p.Ile460Thr)
NM_001035.3(RYR2):c.13805G>A (p.Arg4602Gln) rs1553328160
NM_001035.3(RYR2):c.13810A>G (p.Lys4604Glu) rs1658760152
NM_001035.3(RYR2):c.1385A>C (p.Tyr462Ser) rs2150217492
NM_001035.3(RYR2):c.13888T>G (p.Trp4630Gly)
NM_001035.3(RYR2):c.13897C>G (p.Leu4633Val) rs1484013155
NM_001035.3(RYR2):c.13897C>T (p.Leu4633Phe)
NM_001035.3(RYR2):c.13901T>A (p.Val4634Glu)
NM_001035.3(RYR2):c.13901T>C (p.Val4634Ala) rs1384324063
NM_001035.3(RYR2):c.13904_13906del (p.Ile4635del)
NM_001035.3(RYR2):c.13912C>T (p.Gln4638Ter)
NM_001035.3(RYR2):c.13924A>G (p.Asn4642Asp) rs865812612
NM_001035.3(RYR2):c.13924AAC[1] (p.Asn4643del)
NM_001035.3(RYR2):c.13930T>G (p.Tyr4644Asp) rs2149392507
NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala) rs1658967336
NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu)
NM_001035.3(RYR2):c.13966A>C (p.Lys4656Gln)
NM_001035.3(RYR2):c.1397C>G (p.Pro466Arg) rs967199869
NM_001035.3(RYR2):c.1397C>T (p.Pro466Leu)
NM_001035.3(RYR2):c.13984G>C (p.Gly4662Arg) rs886039213
NM_001035.3(RYR2):c.13985G>T (p.Gly4662Val)
NM_001035.3(RYR2):c.13987C>G (p.Arg4663Gly)
NM_001035.3(RYR2):c.13988G>A (p.Arg4663Gln)
NM_001035.3(RYR2):c.14000G>T (p.Ser4667Ile) rs1057523888
NM_001035.3(RYR2):c.14008C>G (p.Leu4670Val)
NM_001035.3(RYR2):c.14008C>T (p.Leu4670Phe) rs775408548
NM_001035.3(RYR2):c.14012G>T (p.Gly4671Val) rs1420186189
NM_001035.3(RYR2):c.1401T>A (p.Asp467Glu) rs1658569816
NM_001035.3(RYR2):c.14021A>T (p.Lys4674Met)
NM_001035.3(RYR2):c.14048_14049delinsAT (p.Arg4683Asn) rs1558439258
NM_001035.3(RYR2):c.14053AAG[2] (p.Lys4687del) rs1245102430
NM_001035.3(RYR2):c.14055G>C (p.Lys4685Asn)
NM_001035.3(RYR2):c.14057A>C (p.Lys4686Thr) rs2149404469
NM_001035.3(RYR2):c.14068A>G (p.Lys4690Glu) rs912687349
NM_001035.3(RYR2):c.14073C>A (p.Asp4691Glu)
NM_001035.3(RYR2):c.14074A>G (p.Ser4692Gly) rs1659497202
NM_001035.3(RYR2):c.14078C>T (p.Ser4693Phe)
NM_001035.3(RYR2):c.14080T>G (p.Leu4694Val) rs2149404631
NM_001035.3(RYR2):c.14083T>C (p.Ser4695Pro)
NM_001035.3(RYR2):c.1408T>G (p.Leu470Val)
NM_001035.3(RYR2):c.14090+1G>T rs770329524
NM_001035.3(RYR2):c.14090T>C (p.Val4697Ala)
NM_001035.3(RYR2):c.14091-5T>G rs1048452537
NM_001035.3(RYR2):c.14093T>C (p.Leu4698Pro) rs1553332764
NM_001035.3(RYR2):c.14102T>C (p.Ile4701Thr) rs2149419516
NM_001035.3(RYR2):c.14111A>G (p.Lys4704Arg)
NM_001035.3(RYR2):c.14112G>T (p.Lys4704Asn)
NM_001035.3(RYR2):c.14121G>A (p.Met4707Ile) rs1660018312
NM_001035.3(RYR2):c.14122T>G (p.Trp4708Gly) rs397516513
NM_001035.3(RYR2):c.14129T>C (p.Leu4710Pro) rs1574013352
NM_001035.3(RYR2):c.14131G>A (p.Gly4711Arg) rs1660019000
NM_001035.3(RYR2):c.14132G>A (p.Gly4711Glu)
NM_001035.3(RYR2):c.14137G>A (p.Val4713Ile)
NM_001035.3(RYR2):c.14148C>A (p.Asp4716Glu) rs778193795
NM_001035.3(RYR2):c.14151+4A>G rs2149419707
NM_001035.3(RYR2):c.14151+6C>T
NM_001035.3(RYR2):c.14152-8C>G rs1660611538
NM_001035.3(RYR2):c.14162A>T (p.Tyr4721Phe) rs1660612939
NM_001035.3(RYR2):c.14176A>G (p.Met4726Val) rs2149437486
NM_001035.3(RYR2):c.14184G>A (p.Met4728Ile)
NM_001035.3(RYR2):c.14198A>G (p.His4733Arg)
NM_001035.3(RYR2):c.14201A>G (p.Tyr4734Cys) rs1660616083
NM_001035.3(RYR2):c.14204A>T (p.Asn4735Ile)
NM_001035.3(RYR2):c.14217dup (p.Ala4740fs) rs749201569
NM_001035.3(RYR2):c.14221G>A (p.Ala4741Thr) rs2149437588
NM_001035.3(RYR2):c.14222C>T (p.Ala4741Val) rs2149437594
NM_001035.3(RYR2):c.14224C>T (p.His4742Tyr) rs1358033974
NM_001035.3(RYR2):c.14238_14243del (p.Ile4746_Ala4747del) rs1660618834
NM_001035.3(RYR2):c.14246G>T (p.Gly4749Val) rs1558457775
NM_001035.3(RYR2):c.14264C>A (p.Thr4755Asn) rs1553334770
NM_001035.3(RYR2):c.14264C>T (p.Thr4755Ile) rs1553334770
NM_001035.3(RYR2):c.14278G>A (p.Val4760Ile) rs794728831
NM_001035.3(RYR2):c.14284C>T (p.His4762Tyr)
NM_001035.3(RYR2):c.1428G>T (p.Gln476His) rs1281984170
NM_001035.3(RYR2):c.14299-3C>T rs2149446318
NM_001035.3(RYR2):c.14332G>A (p.Val4778Ile) rs1060500151
NM_001035.3(RYR2):c.14332G>T (p.Val4778Leu) rs1060500151
NM_001035.3(RYR2):c.14338C>G (p.Leu4780Val)
NM_001035.3(RYR2):c.14342A>G (p.Tyr4781Cys) rs2149446480
NM_001035.3(RYR2):c.14347G>T (p.Val4783Leu) rs2149446503
NM_001035.3(RYR2):c.14369G>T (p.Arg4790Leu)
NM_001035.3(RYR2):c.14372A>C (p.Lys4791Thr)
NM_001035.3(RYR2):c.14383A>G (p.Lys4795Glu) rs1558462911
NM_001035.3(RYR2):c.14403_14404del (p.Pro4802fs)
NM_001035.3(RYR2):c.14405C>T (p.Pro4802Leu) rs1660968129
NM_001035.3(RYR2):c.14433+5G>A
NM_001035.3(RYR2):c.14450T>G (p.Met4817Arg)
NM_001035.3(RYR2):c.14464C>T (p.Arg4822Cys)
NM_001035.3(RYR2):c.14465G>A (p.Arg4822His) rs794728805
NM_001035.3(RYR2):c.14465G>T (p.Arg4822Leu)
NM_001035.3(RYR2):c.14477G>A (p.Gly4826Glu) rs1662149581
NM_001035.3(RYR2):c.14494G>A (p.Glu4832Lys) rs1443988544
NM_001035.3(RYR2):c.14522T>C (p.Ile4841Thr)
NM_001035.3(RYR2):c.1452T>A (p.Asn484Lys) rs1195833247
NM_001035.3(RYR2):c.1453C>T (p.Arg485Trp) rs766420655
NM_001035.3(RYR2):c.14546C>T (p.Thr4849Ile) rs2102825501
NM_001035.3(RYR2):c.14550CTT[2] (p.Phe4853del)
NM_001035.3(RYR2):c.14556_14559del (p.Phe4852fs) rs2102825624
NM_001035.3(RYR2):c.14563A>G (p.Ile4855Val)
NM_001035.3(RYR2):c.14564T>C (p.Ile4855Thr) rs2102825699
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val) rs1085307524
NM_001035.3(RYR2):c.14577G>A (p.Leu4859=) rs1662156109
NM_001035.3(RYR2):c.14579C>G (p.Ala4860Gly) rs121918606
NM_001035.3(RYR2):c.14590+3A>G rs756787746
NM_001035.3(RYR2):c.14590+4A>G
NM_001035.3(RYR2):c.14590+6T>C
NM_001035.3(RYR2):c.14599A>G (p.Ile4867Val) rs2102926200
NM_001035.3(RYR2):c.14602G>A (p.Asp4868Asn) rs1663399787
NM_001035.3(RYR2):c.14602G>T (p.Asp4868Tyr) rs1663399787
NM_001035.3(RYR2):c.14604T>A (p.Asp4868Glu)
NM_001035.3(RYR2):c.14604T>G (p.Asp4868Glu)
NM_001035.3(RYR2):c.14609T>C (p.Phe4870Ser)
NM_001035.3(RYR2):c.14647G>T (p.Asp4883Tyr) rs868808156
NM_001035.3(RYR2):c.14651T>C (p.Met4884Thr)
NM_001035.3(RYR2):c.14651T>G (p.Met4884Arg) rs2102926629
NM_001035.3(RYR2):c.14656A>G (p.Thr4886Ala)
NM_001035.3(RYR2):c.14674G>A (p.Gly4892Arg)
NM_001035.3(RYR2):c.14679A>G (p.Ile4893Met)
NM_001035.3(RYR2):c.14692T>G (p.Phe4898Val)
NM_001035.3(RYR2):c.14701G>A (p.Val4901Met) rs2102947130
NM_001035.3(RYR2):c.14709T>A (p.His4903Gln)
NM_001035.3(RYR2):c.14718A>C (p.Glu4906Asp) rs1553342497
NM_001035.3(RYR2):c.1471G>A (p.Glu491Lys) rs1658580412
NM_001035.3(RYR2):c.14746G>A (p.Ala4916Thr) rs1663665510
NM_001035.3(RYR2):c.1476+4C>A rs369442980
NM_001035.3(RYR2):c.14773C>G (p.Leu4925Val)
NM_001035.3(RYR2):c.14809-1G>A rs2102967720
NM_001035.3(RYR2):c.14813C>T (p.Ser4938Phe) rs2102967780
NM_001035.3(RYR2):c.1483A>T (p.Ile495Phe)
NM_001035.3(RYR2):c.14848G>C (p.Glu4950Gln) rs886039172
NM_001035.3(RYR2):c.14868_14878del (p.Asp4956fs)
NM_001035.3(RYR2):c.14881C>G (p.Gln4961Glu)
NM_001035.3(RYR2):c.14881C>T (p.Gln4961Ter) rs1574134528
NM_001035.3(RYR2):c.14887G>A (p.Glu4963Lys)
NM_001035.3(RYR2):c.14893C>G (p.Gln4965Glu) rs1663933692
NM_001035.3(RYR2):c.14904_*1dup (p.Ter4968=) rs777179393
NM_001035.3(RYR2):c.14G>A (p.Gly5Asp) rs1660034518
NM_001035.3(RYR2):c.1501T>G (p.Cys501Gly) rs969500202
NM_001035.3(RYR2):c.1510C>T (p.Arg504Cys) rs373502556
NM_001035.3(RYR2):c.1537del (p.His513fs)
NM_001035.3(RYR2):c.1565_1567del (p.Ala522del) rs1658864172
NM_001035.3(RYR2):c.157T>G (p.Ser53Ala)
NM_001035.3(RYR2):c.1583C>T (p.Ser528Phe) rs867134734
NM_001035.3(RYR2):c.1597_1602del (p.Leu533_Tyr534del)
NM_001035.3(RYR2):c.1601A>G (p.Tyr534Cys) rs1572409976
NM_001035.3(RYR2):c.1604A>G (p.Glu535Gly) rs869025509
NM_001035.3(RYR2):c.1615G>A (p.Ala539Thr) rs2150301097
NM_001035.3(RYR2):c.1618C>A (p.Leu540Ile)
NM_001035.3(RYR2):c.161A>G (p.Asn54Ser)
NM_001035.3(RYR2):c.1631A>G (p.Asn544Ser)
NM_001035.3(RYR2):c.1633C>G (p.Arg545Gly) rs1660399641
NM_001035.3(RYR2):c.1634G>A (p.Arg545His)
NM_001035.3(RYR2):c.1637A>G (p.Lys546Arg) rs1660400133
NM_001035.3(RYR2):c.1639A>C (p.Asn547His)
NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys) rs794728722
NM_001035.3(RYR2):c.1643G>A (p.Cys548Tyr) rs1660401182
NM_001035.3(RYR2):c.1655C>T (p.Ser552Phe) rs1660402614
NM_001035.3(RYR2):c.1661C>A (p.Ser554Tyr)
NM_001035.3(RYR2):c.1666G>A (p.Asp556Asn)
NM_001035.3(RYR2):c.1677C>G (p.Ile559Met)
NM_001035.3(RYR2):c.1678A>G (p.Ser560Gly) rs759121593
NM_001035.3(RYR2):c.168+4G>A rs1689584784
NM_001035.3(RYR2):c.1712T>A (p.Ile571Asn) rs886046263
NM_001035.3(RYR2):c.1719del (p.Val574fs)
NM_001035.3(RYR2):c.1727A>G (p.His576Arg) rs794728818
NM_001035.3(RYR2):c.1738G>T (p.Val580Leu) rs1572569244
NM_001035.3(RYR2):c.1771G>C (p.Glu591Gln)
NM_001035.3(RYR2):c.1772A>G (p.Glu591Gly)
NM_001035.3(RYR2):c.1784A>G (p.Lys595Arg) rs1370136013
NM_001035.3(RYR2):c.1789A>T (p.Ile597Phe)
NM_001035.3(RYR2):c.178C>T (p.Pro60Ser) rs1696641342
NM_001035.3(RYR2):c.1792A>G (p.Ile598Val)
NM_001035.3(RYR2):c.1798C>G (p.Leu600Val)
NM_001035.3(RYR2):c.1799T>A (p.Leu600His)
NM_001035.3(RYR2):c.1803del (p.Asp602fs) rs2150413242
NM_001035.3(RYR2):c.1832T>C (p.Leu611Pro) rs794728726
NM_001035.3(RYR2):c.1837G>A (p.Val613Ile) rs397516520
NM_001035.3(RYR2):c.1842G>T (p.Leu614Phe) rs1227994309
NM_001035.3(RYR2):c.1844G>T (p.Cys615Phe) rs748190200
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe) rs794728813
NM_001035.3(RYR2):c.1867G>C (p.Val623Leu)
NM_001035.3(RYR2):c.1870G>A (p.Ala624Thr) rs1663584680
NM_001035.3(RYR2):c.1871C>T (p.Ala624Val) rs878854153
NM_001035.3(RYR2):c.1877G>A (p.Arg626His)
NM_001035.3(RYR2):c.1880C>G (p.Ser627Cys)
NM_001035.3(RYR2):c.1888C>T (p.His630Tyr)
NM_001035.3(RYR2):c.1894A>G (p.Ile632Val)
NM_001035.3(RYR2):c.1906C>A (p.Leu636Ile) rs2150421908
NM_001035.3(RYR2):c.1918A>G (p.Arg640Gly) rs886041109
NM_001035.3(RYR2):c.191T>G (p.Ile64Ser) rs2149567963
NM_001035.3(RYR2):c.1921G>A (p.Asp641Asn)
NM_001035.3(RYR2):c.1941del (p.Leu648_Val649insTer)
NM_001035.3(RYR2):c.1946T>C (p.Val649Ala)
NM_001035.3(RYR2):c.1962C>T (p.Ser654=) rs1664091413
NM_001035.3(RYR2):c.1988T>C (p.Val663Ala) rs372837858
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser) rs779910353
NM_001035.3(RYR2):c.2000C>G (p.Ser667Cys)
NM_001035.3(RYR2):c.2009A>G (p.Tyr670Cys) rs571828296
NM_001035.3(RYR2):c.2010_2011del (p.Tyr670_Lys671delinsTer) rs1664096446
NM_001035.3(RYR2):c.2011A>G (p.Lys671Glu) rs1664097353
NM_001035.3(RYR2):c.2017T>C (p.Trp673Arg)
NM_001035.3(RYR2):c.2024A>G (p.Tyr675Cys)
NM_001035.3(RYR2):c.202G>C (p.Val68Leu)
NM_001035.3(RYR2):c.2042A>G (p.His681Arg) rs1344581490
NM_001035.3(RYR2):c.2056G>A (p.Val686Met) rs1060500139
NM_001035.3(RYR2):c.2057T>G (p.Val686Gly) rs1664102967
NM_001035.3(RYR2):c.2068G>A (p.Ala690Thr) rs2150448340
NM_001035.3(RYR2):c.2080C>G (p.Arg694Gly)
NM_001035.3(RYR2):c.2080C>T (p.Arg694Ter)
NM_001035.3(RYR2):c.2116T>C (p.Tyr706His)
NM_001035.3(RYR2):c.2122G>A (p.Gly708Arg) rs1235629482
NM_001035.3(RYR2):c.2129G>T (p.Gly710Val) rs926435910
NM_001035.3(RYR2):c.2138G>C (p.Trp713Ser) rs1553473238
NM_001035.3(RYR2):c.2141G>A (p.Gly714Asp)
NM_001035.3(RYR2):c.2159A>G (p.Asp720Gly)
NM_001035.3(RYR2):c.215C>A (p.Ser72Tyr) rs1696644532
NM_001035.3(RYR2):c.2201C>G (p.Ser734Ter)
NM_001035.3(RYR2):c.2203+5G>A rs766288440
NM_001035.3(RYR2):c.2203G>C (p.Gly735Arg) rs1442111387
NM_001035.3(RYR2):c.2225G>A (p.Ser742Asn)
NM_001035.3(RYR2):c.223G>A (p.Val75Ile) rs868504232
NM_001035.3(RYR2):c.2246T>G (p.Leu749Ter)
NM_001035.3(RYR2):c.224T>C (p.Val75Ala) rs2149568182
NM_001035.3(RYR2):c.2252C>T (p.Thr751Ile)
NM_001035.3(RYR2):c.2263A>G (p.Ile755Val) rs1553474585
NM_001035.3(RYR2):c.2263A>T (p.Ile755Phe)
NM_001035.3(RYR2):c.227G>A (p.Arg76Gln) rs1696646305
NM_001035.3(RYR2):c.227G>C (p.Arg76Pro) rs1696646305
NM_001035.3(RYR2):c.2288C>A (p.Ala763Asp)
NM_001035.3(RYR2):c.2288C>T (p.Ala763Val) rs1664552898
NM_001035.3(RYR2):c.2293A>C (p.Ser765Arg) rs748603282
NM_001035.3(RYR2):c.2305C>G (p.Arg769Gly)
NM_001035.3(RYR2):c.2332A>G (p.Met778Val) rs1553474619
NM_001035.3(RYR2):c.2348A>G (p.Asn783Ser)
NM_001035.3(RYR2):c.2350A>G (p.Ile784Val) rs794728729
NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn) rs774486571
NM_001035.3(RYR2):c.2359C>G (p.Leu787Val)
NM_001035.3(RYR2):c.2362T>C (p.Phe788Leu)
NM_001035.3(RYR2):c.2392A>G (p.Ile798Val)
NM_001035.3(RYR2):c.2396+7A>G
NM_001035.3(RYR2):c.2397A>C (p.Lys799Asn) rs1558931160
NM_001035.3(RYR2):c.2398G>A (p.Val800Ile)
NM_001035.3(RYR2):c.2399T>C (p.Val800Ala) rs794728730
NM_001035.3(RYR2):c.2401C>A (p.Arg801Ser) rs940667860
NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys) rs940667860
NM_001035.3(RYR2):c.2422C>T (p.His808Tyr) rs1263859453
NM_001035.3(RYR2):c.2426G>A (p.Gly809Glu) rs1060500140
NM_001035.3(RYR2):c.2430A>C (p.Glu810Asp)
NM_001035.3(RYR2):c.2435A>G (p.Lys812Arg) rs779155482
NM_001035.3(RYR2):c.2440C>A (p.Leu814Ile)
NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser) rs794728698
NM_001035.3(RYR2):c.2510G>C (p.Ser837Thr) rs375607964
NM_001035.3(RYR2):c.2512C>T (p.Arg838Ter)
NM_001035.3(RYR2):c.2513G>T (p.Arg838Leu) rs764043352
NM_001035.3(RYR2):c.2527G>C (p.Glu843Gln)
NM_001035.3(RYR2):c.2536T>C (p.Tyr846His)
NM_001035.3(RYR2):c.254C>A (p.Thr85Asn) rs772005577
NM_001035.3(RYR2):c.254C>T (p.Thr85Ile) rs772005577
NM_001035.3(RYR2):c.2561C>T (p.Thr854Ile) rs1060500163
NM_001035.3(RYR2):c.2566T>C (p.Ser856Pro)
NM_001035.3(RYR2):c.2566T>G (p.Ser856Ala)
NM_001035.3(RYR2):c.258G>A (p.Val86=) rs780635739
NM_001035.3(RYR2):c.2594T>A (p.Ile865Asn) rs2150494586
NM_001035.3(RYR2):c.2600T>C (p.Val867Ala)
NM_001035.3(RYR2):c.2601G>A (p.Val867=) rs1664878565
NM_001035.3(RYR2):c.2611C>G (p.Gln871Glu) rs2150494702
NM_001035.3(RYR2):c.2613+17G>A
NM_001035.3(RYR2):c.2613+20T>C
NM_001035.3(RYR2):c.2613+4C>T
NM_001035.3(RYR2):c.2617G>C (p.Val873Leu) rs369248015
NM_001035.3(RYR2):c.2626C>T (p.Pro876Ser)
NM_001035.3(RYR2):c.2631T>A (p.His877Gln) rs1050687513
NM_001035.3(RYR2):c.2641A>G (p.Ile881Val) rs773162223
NM_001035.3(RYR2):c.2657C>T (p.Ala886Val)
NM_001035.3(RYR2):c.2680G>A (p.Val894Ile)
NM_001035.3(RYR2):c.2707C>G (p.Gln903Glu)
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala) rs754520058
NM_001035.3(RYR2):c.2718+5G>A
NM_001035.3(RYR2):c.2718+6T>C rs1416205366
NM_001035.3(RYR2):c.2718G>A (p.Pro906=) rs1164077324
NM_001035.3(RYR2):c.2719G>C (p.Val907Leu)
NM_001035.3(RYR2):c.273+5G>A
NM_001035.3(RYR2):c.2747C>T (p.Pro916Leu)
NM_001035.3(RYR2):c.274C>T (p.Gln92Ter) rs2149691837
NM_001035.3(RYR2):c.2753T>C (p.Leu918Pro) rs2147767632
NM_001035.3(RYR2):c.2764T>A (p.Ser922Thr)
NM_001035.3(RYR2):c.2765C>G (p.Ser922Cys) rs1558945798
NM_001035.3(RYR2):c.2785C>G (p.Arg929Gly) rs528906699
NM_001035.3(RYR2):c.2785C>T (p.Arg929Cys)
NM_001035.3(RYR2):c.2804T>C (p.Met935Thr) rs1665922680
NM_001035.3(RYR2):c.2805G>A (p.Met935Ile) rs727505044
NM_001035.3(RYR2):c.2807C>T (p.Ser936Leu) rs1295898396
NM_001035.3(RYR2):c.281A>G (p.Asp94Gly)
NM_001035.3(RYR2):c.281A>T (p.Asp94Val) rs876657989
NM_001035.3(RYR2):c.2843G>C (p.Cys948Ser) rs1260308629
NM_001035.3(RYR2):c.2848G>T (p.Val950Leu) rs794728731
NM_001035.3(RYR2):c.2854A>G (p.Ile952Val) rs1668033659
NM_001035.3(RYR2):c.2868T>G (p.His956Gln) rs1553486453
NM_001035.3(RYR2):c.2877C>A (p.Asp959Glu) rs1042196921
NM_001035.3(RYR2):c.2878A>G (p.Lys960Glu)
NM_001035.3(RYR2):c.2884A>G (p.Lys962Glu) rs1668037094
NM_001035.3(RYR2):c.2889A>C (p.Lys963Asn)
NM_001035.3(RYR2):c.2899C>T (p.Pro967Ser) rs1558977048
NM_001035.3(RYR2):c.2906+6T>C
NM_001035.3(RYR2):c.2907-1G>A rs111843122
NM_001035.3(RYR2):c.2908T>A (p.Tyr970Asn)
NM_001035.3(RYR2):c.2920A>G (p.Ser974Gly)
NM_001035.3(RYR2):c.2921G>T (p.Ser974Ile)
NM_001035.3(RYR2):c.292del (p.Trp98fs) rs2149691982
NM_001035.3(RYR2):c.2930A>G (p.Lys977Arg)
NM_001035.3(RYR2):c.2930A>T (p.Lys977Met) rs1670046069
NM_001035.3(RYR2):c.2932C>G (p.Pro978Ala)
NM_001035.3(RYR2):c.294+5G>A rs1699261815
NM_001035.3(RYR2):c.2944G>A (p.Asp982Asn) rs1670048030
NM_001035.3(RYR2):c.295-3C>T
NM_001035.3(RYR2):c.2969C>A (p.Pro990Gln) rs912594681
NM_001035.3(RYR2):c.2971T>A (p.Ser991Thr)
NM_001035.3(RYR2):c.2972_2973inv (p.Ser991Leu)
NM_001035.3(RYR2):c.2990A>G (p.Asp997Gly) rs2148090472
NM_001035.3(RYR2):c.2991C>G (p.Asp997Glu) rs2148090488
NM_001035.3(RYR2):c.2998G>T (p.Ala1000Ser)
NM_001035.3(RYR2):c.2999C>T (p.Ala1000Val)
NM_001035.3(RYR2):c.29A>C (p.Glu10Ala) rs1027423344
NM_001035.3(RYR2):c.3005A>C (p.Asn1002Thr) rs1559008003
NM_001035.3(RYR2):c.300C>A (p.Phe100Leu) rs2149727101
NM_001035.3(RYR2):c.3023C>A (p.Ala1008Glu) rs1232224119
NM_001035.3(RYR2):c.3023C>T (p.Ala1008Val) rs1232224119
NM_001035.3(RYR2):c.3026G>C (p.Arg1009Pro) rs754812132
NM_001035.3(RYR2):c.3028G>T (p.Asp1010Tyr) rs780949229
NM_001035.3(RYR2):c.3029A>T (p.Asp1010Val)
NM_001035.3(RYR2):c.3038G>T (p.Arg1013Leu) rs149514924
NM_001035.3(RYR2):c.3050C>T (p.Thr1017Ile)
NM_001035.3(RYR2):c.3065A>G (p.Gln1022Arg) rs761384379
NM_001035.3(RYR2):c.3066+5A>G rs1346060761
NM_001035.3(RYR2):c.3067G>A (p.Asp1023Asn)
NM_001035.3(RYR2):c.3070G>A (p.Val1024Ile) rs1291873158
NM_001035.3(RYR2):c.309+5G>T rs794728695
NM_001035.3(RYR2):c.3091C>T (p.Arg1031Cys)
NM_001035.3(RYR2):c.3092G>A (p.Arg1031His)
NM_001035.3(RYR2):c.3107C>T (p.Thr1036Ile)
NM_001035.3(RYR2):c.3109C>G (p.Leu1037Val) rs762576802
NM_001035.3(RYR2):c.310A>T (p.Thr104Ser) rs1060500155
NM_001035.3(RYR2):c.3116A>G (p.Asp1039Gly)
NM_001035.3(RYR2):c.3148C>T (p.Leu1050Phe) rs1572837868
NM_001035.3(RYR2):c.3152G>T (p.Arg1051Leu)
NM_001035.3(RYR2):c.3182G>C (p.Gly1061Ala) rs373083911
NM_001035.3(RYR2):c.3185A>G (p.Tyr1062Cys) rs1572838155
NM_001035.3(RYR2):c.3206A>G (p.Gln1069Arg)
NM_001035.3(RYR2):c.3208G>C (p.Asp1070His) rs1670298968
NM_001035.3(RYR2):c.3215C>G (p.Ala1072Gly) rs1321772491
NM_001035.3(RYR2):c.3230T>G (p.Val1077Gly)
NM_001035.3(RYR2):c.3232T>C (p.Cys1078Arg)
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys) rs879255350
NM_001035.3(RYR2):c.3277A>C (p.Thr1093Pro) rs1672114573
NM_001035.3(RYR2):c.3281A>G (p.Tyr1094Cys)
NM_001035.3(RYR2):c.3286G>A (p.Val1096Met) rs1386531236
NM_001035.3(RYR2):c.3289A>G (p.Lys1097Glu) rs1553504083
NM_001035.3(RYR2):c.3292G>T (p.Ala1098Ser) rs2148252279
NM_001035.3(RYR2):c.3293C>T (p.Ala1098Val) rs1318943750
NM_001035.3(RYR2):c.3298C>T (p.Arg1100Trp)
NM_001035.3(RYR2):c.3299G>A (p.Arg1100Gln)
NM_001035.3(RYR2):c.3326C>G (p.Thr1109Ser) rs2148252557
NM_001035.3(RYR2):c.332G>A (p.Arg111Gln)
NM_001035.3(RYR2):c.3332G>C (p.Gly1111Ala)
NM_001035.3(RYR2):c.3343G>A (p.Val1115Ile)
NM_001035.3(RYR2):c.3347G>T (p.Gly1116Val)
NM_001035.3(RYR2):c.3351G>A (p.Trp1117Ter) rs1672122070
NM_001035.3(RYR2):c.3370C>T (p.Pro1124Ser) rs2148253003
NM_001035.3(RYR2):c.3371C>A (p.Pro1124Gln) rs779640835
NM_001035.3(RYR2):c.3382C>G (p.Leu1128Val)
NM_001035.3(RYR2):c.3397C>G (p.Arg1133Gly) rs748085424
NM_001035.3(RYR2):c.3401C>A (p.Ala1134Asp)
NM_001035.3(RYR2):c.3401C>G (p.Ala1134Gly) rs1319844305
NM_001035.3(RYR2):c.3414T>G (p.Asp1138Glu) rs763881346
NM_001035.3(RYR2):c.3421A>C (p.Lys1141Gln)
NM_001035.3(RYR2):c.3423+2T>C rs2148253549
NM_001035.3(RYR2):c.3423+5G>A
NM_001035.3(RYR2):c.3430C>T (p.Arg1144Trp)
NM_001035.3(RYR2):c.3446A>G (p.Asn1149Ser) rs1289440571
NM_001035.3(RYR2):c.3460C>A (p.Arg1154Ser) rs765617616
NM_001035.3(RYR2):c.346G>A (p.Gly116Arg)
NM_001035.3(RYR2):c.3481G>T (p.Val1161Phe)
NM_001035.3(RYR2):c.3482T>C (p.Val1161Ala) rs2148275449
NM_001035.3(RYR2):c.3496G>A (p.Val1166Ile) rs886046266
NM_001035.3(RYR2):c.349C>T (p.His117Tyr) rs1057524592
NM_001035.3(RYR2):c.3502A>C (p.Met1168Leu)
NM_001035.3(RYR2):c.3502A>G (p.Met1168Val) rs1217551741
NM_001035.3(RYR2):c.3508G>A (p.Glu1170Lys) rs772236215
NM_001035.3(RYR2):c.350A>G (p.His117Arg)
NM_001035.3(RYR2):c.3515C>T (p.Thr1172Ile) rs768755342
NM_001035.3(RYR2):c.3527C>T (p.Thr1176Ile)
NM_001035.3(RYR2):c.355A>G (p.Ile119Val) rs1477582479
NM_001035.3(RYR2):c.3560G>T (p.Gly1187Val)
NM_001035.3(RYR2):c.3571G>A (p.Ala1191Thr)
NM_001035.3(RYR2):c.3587A>T (p.Asp1196Val) rs1672413818
NM_001035.3(RYR2):c.3588T>A (p.Asp1196Glu)
NM_001035.3(RYR2):c.3592G>T (p.Gly1198Cys)
NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly) rs149760466
NM_001035.3(RYR2):c.3598+15T>G rs2148276559
NM_001035.3(RYR2):c.3599-3C>A
NM_001035.3(RYR2):c.3601T>G (p.Phe1201Val)
NM_001035.3(RYR2):c.3618C>A (p.Ser1206Arg)
NM_001035.3(RYR2):c.3620T>C (p.Leu1207Pro) rs1674951536
NM_001035.3(RYR2):c.3625G>A (p.Val1209Met) rs794728733
NM_001035.3(RYR2):c.3626T>C (p.Val1209Ala)
NM_001035.3(RYR2):c.3658G>T (p.Asp1220Tyr) rs753078642
NM_001035.3(RYR2):c.3659A>T (p.Asp1220Val)
NM_001035.3(RYR2):c.365G>T (p.Arg122Leu) rs727503396
NM_001035.3(RYR2):c.3698A>G (p.Gln1233Arg) rs1674959238
NM_001035.3(RYR2):c.3704G>A (p.Gly1235Asp) rs765263326
NM_001035.3(RYR2):c.3712C>T (p.Pro1238Ser)
NM_001035.3(RYR2):c.3728C>T (p.Thr1243Ile) rs2148431137
NM_001035.3(RYR2):c.3760A>G (p.Arg1254Gly) rs748217122
NM_001035.3(RYR2):c.3761G>A (p.Arg1254Lys)
NM_001035.3(RYR2):c.3762G>C (p.Arg1254Ser)
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr) rs769729405
NM_001035.3(RYR2):c.3794A>G (p.His1265Arg) rs1674968448
NM_001035.3(RYR2):c.3800A>G (p.His1267Arg)
NM_001035.3(RYR2):c.3800A>T (p.His1267Leu)
NM_001035.3(RYR2):c.3802A>G (p.Ile1268Val)
NM_001035.3(RYR2):c.3812C>T (p.Thr1271Ile)
NM_001035.3(RYR2):c.3838T>C (p.Ser1280Pro) rs1208920889
NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys) rs759424061
NM_001035.3(RYR2):c.3841C>G (p.Pro1281Ala) rs2148436643
NM_001035.3(RYR2):c.3890C>G (p.Thr1297Ser) rs746350036
NM_001035.3(RYR2):c.3896T>G (p.Ile1299Ser) rs772551383
NM_001035.3(RYR2):c.3897C>G (p.Ile1299Met) rs747846327
NM_001035.3(RYR2):c.38T>G (p.Phe13Cys) rs878854155
NM_001035.3(RYR2):c.3900G>A (p.Met1300Ile)
NM_001035.3(RYR2):c.3905A>T (p.Tyr1302Phe) rs2148437157
NM_001035.3(RYR2):c.3908G>A (p.Arg1303His) rs766670579
NM_001035.3(RYR2):c.3916A>G (p.Met1306Val) rs767360469
NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr) rs747297455
NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala) rs1553514981
NM_001035.3(RYR2):c.3952G>C (p.Val1318Leu) rs1675068916
NM_001035.3(RYR2):c.3961G>A (p.Gly1321Arg) rs2148437710
NM_001035.3(RYR2):c.3964C>G (p.Leu1322Val)
NM_001035.3(RYR2):c.396C>G (p.Cys132Trp)
NM_001035.3(RYR2):c.3971G>A (p.Gly1324Glu)
NM_001035.3(RYR2):c.3977G>A (p.Gly1326Asp) rs1675072837
NM_001035.3(RYR2):c.3980T>C (p.Leu1327Pro) rs923667966
NM_001035.3(RYR2):c.3988C>T (p.Pro1330Ser) rs1675074576
NM_001035.3(RYR2):c.3993G>C (p.Lys1331Asn)
NM_001035.3(RYR2):c.39C>G (p.Phe13Leu) rs1660038687
NM_001035.3(RYR2):c.4000T>G (p.Leu1334Val)
NM_001035.3(RYR2):c.400T>C (p.Ser134Pro)
NM_001035.3(RYR2):c.4012G>A (p.Asp1338Asn)
NM_001035.3(RYR2):c.4013A>T (p.Asp1338Val)
NM_001035.3(RYR2):c.4022_4023del (p.Asp1340_Ser1341insTer)
NM_001035.3(RYR2):c.404C>A (p.Thr135Asn)
NM_001035.3(RYR2):c.4072C>T (p.Arg1358Cys) rs771593145
NM_001035.3(RYR2):c.4073G>A (p.Arg1358His) rs1675084862
NM_001035.3(RYR2):c.4080CAAAGA[1] (p.1360DK[1])
NM_001035.3(RYR2):c.409C>A (p.Arg137=)
NM_001035.3(RYR2):c.4102C>G (p.Pro1368Ala)
NM_001035.3(RYR2):c.4102C>T (p.Pro1368Ser) rs1675088114
NM_001035.3(RYR2):c.4109T>C (p.Phe1370Ser) rs1675088358
NM_001035.3(RYR2):c.4110T>A (p.Phe1370Leu)
NM_001035.3(RYR2):c.4114A>C (p.Asn1372His)
NM_001035.3(RYR2):c.4130C>T (p.Ala1377Val)
NM_001035.3(RYR2):c.4175G>A (p.Arg1392Lys) rs1675223766
NM_001035.3(RYR2):c.4189T>C (p.Tyr1397His)
NM_001035.3(RYR2):c.4190A>T (p.Tyr1397Phe) rs1318973952
NM_001035.3(RYR2):c.4193G>A (p.Ser1398Asn) rs761006189
NM_001035.3(RYR2):c.4193G>T (p.Ser1398Ile)
NM_001035.3(RYR2):c.4195_4200del (p.Thr1399_Ser1400del) rs1553515428
NM_001035.3(RYR2):c.41T>C (p.Leu14Pro) rs886043844
NM_001035.3(RYR2):c.4207G>T (p.Ala1403Ser)
NM_001035.3(RYR2):c.4208_4209insTGTAATCTGC (p.Arg1404fs) rs1553515441
NM_001035.3(RYR2):c.4219G>A (p.Glu1407Lys) rs1420999217
NM_001035.3(RYR2):c.4219G>C (p.Glu1407Gln) rs1420999217
NM_001035.3(RYR2):c.4229T>C (p.Leu1410Pro) rs794728734
NM_001035.3(RYR2):c.4238A>G (p.Asp1413Gly) rs1060500146
NM_001035.3(RYR2):c.4238A>T (p.Asp1413Val) rs1060500146
NM_001035.3(RYR2):c.4240C>T (p.Arg1414Trp) rs868750680
NM_001035.3(RYR2):c.4245T>A (p.Asp1415Glu) rs1675234458
NM_001035.3(RYR2):c.4247A>G (p.Asp1416Gly) rs1675234923
NM_001035.3(RYR2):c.4252G>C (p.Asp1418His)
NM_001035.3(RYR2):c.4262T>C (p.Met1421Thr) rs2148446716
NM_001035.3(RYR2):c.4265A>C (p.Gln1422Pro) rs2148446764
NM_001035.3(RYR2):c.4274C>A (p.Thr1425Lys) rs761181641
NM_001035.3(RYR2):c.4275G>A (p.Thr1425=) rs1488525254
NM_001035.3(RYR2):c.4276-17T>G
NM_001035.3(RYR2):c.4276-19G>A
NM_001035.3(RYR2):c.4277A>G (p.Tyr1426Cys)
NM_001035.3(RYR2):c.4286C>T (p.Ser1429Leu) rs1675464523
NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val) rs769163639
NM_001035.3(RYR2):c.431C>G (p.Ala144Gly) rs1456012582
NM_001035.3(RYR2):c.4327G>A (p.Val1443Met) rs1675469138
NM_001035.3(RYR2):c.4331G>T (p.Gly1444Val)
NM_001035.3(RYR2):c.4352A>T (p.His1451Leu) rs1675471793
NM_001035.3(RYR2):c.4357T>C (p.Tyr1453His) rs1573013160
NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly) rs752212017
NM_001035.3(RYR2):c.4376T>C (p.Leu1459Ser) rs1060500158
NM_001035.3(RYR2):c.4378G>C (p.Asp1460His)
NM_001035.3(RYR2):c.4380C>A (p.Asp1460Glu) rs1675476028
NM_001035.3(RYR2):c.4381A>G (p.Arg1461Gly)
NM_001035.3(RYR2):c.4391C>A (p.Thr1464Lys) rs1010452511
NM_001035.3(RYR2):c.4391C>G (p.Thr1464Arg)
NM_001035.3(RYR2):c.4396A>G (p.Thr1466Ala) rs1675479559
NM_001035.3(RYR2):c.4405C>G (p.Leu1469Val) rs2148458888
NM_001035.3(RYR2):c.4412A>G (p.Asp1471Gly)
NM_001035.3(RYR2):c.4424_4425del (p.Lys1475fs) rs2148458967
NM_001035.3(RYR2):c.4430A>G (p.His1477Arg)
NM_001035.3(RYR2):c.4434A>C (p.Glu1478Asp)
NM_001035.3(RYR2):c.4437-3_4437del
NM_001035.3(RYR2):c.4454G>A (p.Cys1485Tyr)
NM_001035.3(RYR2):c.4459A>G (p.Met1487Val) rs1278512393
NM_001035.3(RYR2):c.4460T>C (p.Met1487Thr) rs1675795160
NM_001035.3(RYR2):c.4463T>C (p.Val1488Ala)
NM_001035.3(RYR2):c.4471G>C (p.Gly1491Arg) rs1212392127
NM_001035.3(RYR2):c.4478G>A (p.Ser1493Asn) rs1675797021
NM_001035.3(RYR2):c.44_45insTGT (p.Arg15_Thr16insVal)
NM_001035.3(RYR2):c.4502A>G (p.Asn1501Ser) rs2148474843
NM_001035.3(RYR2):c.4505A>G (p.Asn1502Ser) rs769604342
NM_001035.3(RYR2):c.4513C>G (p.Leu1505Val) rs1057518306
NM_001035.3(RYR2):c.4528G>A (p.Val1510Met) rs2148475032
NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu) rs1298609322
NM_001035.3(RYR2):c.4541C>T (p.Ala1514Val)
NM_001035.3(RYR2):c.4568A>G (p.Asn1523Ser)
NM_001035.3(RYR2):c.4574A>C (p.Lys1525Thr)
NM_001035.3(RYR2):c.4586C>T (p.Thr1529Ile)
NM_001035.3(RYR2):c.4596+3_4596+9del rs878854157
NM_001035.3(RYR2):c.4596+5G>A rs1453761148
NM_001035.3(RYR2):c.4604C>T (p.Pro1535Leu) rs973392998
NM_001035.3(RYR2):c.4625C>A (p.Ala1542Glu)
NM_001035.3(RYR2):c.4625C>T (p.Ala1542Val)
NM_001035.3(RYR2):c.463+6C>A rs397516533
NM_001035.3(RYR2):c.464-1G>A
NM_001035.3(RYR2):c.4648C>T (p.Pro1550Ser) rs1553518591
NM_001035.3(RYR2):c.464G>A (p.Gly155Glu) rs1060500152
NM_001035.3(RYR2):c.4664T>A (p.Phe1555Tyr) rs1676563735
NM_001035.3(RYR2):c.4668G>T (p.Glu1556Asp) rs370332700
NM_001035.3(RYR2):c.4669T>A (p.Leu1557Met) rs947233100
NM_001035.3(RYR2):c.4678A>G (p.Ile1560Val)
NM_001035.3(RYR2):c.4684-3T>C
NM_001035.3(RYR2):c.4688T>C (p.Val1563Ala)
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val) rs955021407
NM_001035.3(RYR2):c.4704G>A (p.Ala1568=) rs1376915958
NM_001035.3(RYR2):c.4713C>A (p.Phe1571Leu) rs2148572561
NM_001035.3(RYR2):c.4714A>G (p.Lys1572Glu)
NM_001035.3(RYR2):c.4718G>A (p.Ser1573Asn) rs776893934
NM_001035.3(RYR2):c.471TTG[1] (p.Cys158del) rs2149792684
NM_001035.3(RYR2):c.4735G>C (p.Val1579Leu) rs763389778
NM_001035.3(RYR2):c.4738C>T (p.Pro1580Ser) rs1677765906
NM_001035.3(RYR2):c.4739C>T (p.Pro1580Leu) rs755303612
NM_001035.3(RYR2):c.4745G>C (p.Cys1582Ser)
NM_001035.3(RYR2):c.4748C>T (p.Pro1583Leu) rs1421328710
NM_001035.3(RYR2):c.4750C>G (p.Pro1584Ala) rs745824179
NM_001035.3(RYR2):c.4750C>T (p.Pro1584Ser)
NM_001035.3(RYR2):c.4751C>T (p.Pro1584Leu) rs772098320
NM_001035.3(RYR2):c.4756C>T (p.Leu1586Phe) rs1677771351
NM_001035.3(RYR2):c.4760A>G rs727504133
NM_001035.3(RYR2):c.4766A>G (p.Gln1589Arg)
NM_001035.3(RYR2):c.4781T>C (p.Val1594Ala)
NM_001035.3(RYR2):c.4790G>A (p.Ser1597Asn) rs1481918213
NM_001035.3(RYR2):c.4797G>A (p.Met1599Ile) rs1217016031
NM_001035.3(RYR2):c.4799C>T (p.Pro1600Leu) rs759952370
NM_001035.3(RYR2):c.47_48del (p.Thr16fs)
NM_001035.3(RYR2):c.48+10G>A
NM_001035.3(RYR2):c.48+15T>C
NM_001035.3(RYR2):c.48+2T>C
NM_001035.3(RYR2):c.48+6C>A
NM_001035.3(RYR2):c.48+8C>T
NM_001035.3(RYR2):c.48+9C>T
NM_001035.3(RYR2):c.4803C>G (p.Asn1601Lys)
NM_001035.3(RYR2):c.4804C>T (p.Gln1602Ter)
NM_001035.3(RYR2):c.4822G>C (p.Val1608Leu) rs1677780778
NM_001035.3(RYR2):c.4840C>A (p.Arg1614Ser)
NM_001035.3(RYR2):c.4841G>T (p.Arg1614Leu) rs746943081
NM_001035.3(RYR2):c.4843C>T (p.Gln1615Ter)
NM_001035.3(RYR2):c.4848C>T (p.Gly1616=) rs1308711902
NM_001035.3(RYR2):c.4868A>G (p.Asp1623Gly) rs1421802252
NM_001035.3(RYR2):c.4880T>A (p.Phe1627Tyr) rs2148574202
NM_001035.3(RYR2):c.4885T>C (p.Ser1629Pro) rs1435195421
NM_001035.3(RYR2):c.48T>C (p.Thr16=)
NM_001035.3(RYR2):c.4910+1G>A
NM_001035.3(RYR2):c.4910+3C>G rs757198624
NM_001035.3(RYR2):c.4910+3C>T
NM_001035.3(RYR2):c.4910+6C>T rs1553521040
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr) rs794728739
NM_001035.3(RYR2):c.4913del (p.Ser1638fs) rs1573121929
NM_001035.3(RYR2):c.4921A>T (p.Ile1641Phe)
NM_001035.3(RYR2):c.4931T>C (p.Leu1644Ser) rs2148593157
NM_001035.3(RYR2):c.4932G>C (p.Leu1644Phe)
NM_001035.3(RYR2):c.4935dup (p.Glu1646fs)
NM_001035.3(RYR2):c.4964A>G (p.Tyr1655Cys) rs1678200182
NM_001035.3(RYR2):c.4972C>T (p.Leu1658Phe) rs767540663
NM_001035.3(RYR2):c.4973T>C (p.Leu1658Pro) rs2148593468
NM_001035.3(RYR2):c.4976G>A (p.Arg1659Gln) rs1281673231
NM_001035.3(RYR2):c.497C>T (p.Ser166Phe)
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe) rs749434532
NM_001035.3(RYR2):c.4991T>A (p.Val1664Asp) rs878854158
NM_001035.3(RYR2):c.5012G>A (p.Arg1671Gln) rs777091366
NM_001035.3(RYR2):c.5017G>A (p.Ala1673Thr) rs2148593799
NM_001035.3(RYR2):c.5018C>T (p.Ala1673Val) rs2148593806
NM_001035.3(RYR2):c.5023G>T (p.Ala1675Ser) rs2148593845
NM_001035.3(RYR2):c.5033G>A (p.Ser1678Asn) rs1678207715
NM_001035.3(RYR2):c.5047C>G (p.Pro1683Ala)
NM_001035.3(RYR2):c.5047C>T (p.Pro1683Ser) rs766933683
NM_001035.3(RYR2):c.5060A>C (p.Tyr1687Ser) rs760479688
NM_001035.3(RYR2):c.5080A>G (p.Met1694Val) rs1486465466
NM_001035.3(RYR2):c.5086G>C (p.Gly1696Arg)
NM_001035.3(RYR2):c.508T>A (p.Ser170Thr) rs1558712336
NM_001035.3(RYR2):c.5091G>C (p.Leu1697Phe)
NM_001035.3(RYR2):c.50A>G (p.Asp17Gly)
NM_001035.3(RYR2):c.5105A>G (p.Tyr1702Cys)
NM_001035.3(RYR2):c.5152A>G (p.Arg1718Gly)
NM_001035.3(RYR2):c.5154G>C (p.Arg1718Ser) rs114534505
NM_001035.3(RYR2):c.5168A>G (p.Asn1723Ser) rs2148594785
NM_001035.3(RYR2):c.5176A>C (p.Ile1726Leu)
NM_001035.3(RYR2):c.5176A>G (p.Ile1726Val) rs764065333
NM_001035.3(RYR2):c.5186T>A (p.Met1729Lys)
NM_001035.3(RYR2):c.5203A>G (p.Ser1735Gly)
NM_001035.3(RYR2):c.5209A>C (p.Thr1737Pro)
NM_001035.3(RYR2):c.5210C>G (p.Thr1737Ser) rs1172292367
NM_001035.3(RYR2):c.5215T>C (p.Phe1739Leu) rs2148595163
NM_001035.3(RYR2):c.5227A>G (p.Asn1743Asp)
NM_001035.3(RYR2):c.5239G>A (p.Gly1747Ser) rs1553522190
NM_001035.3(RYR2):c.5248G>A (p.Gly1750Arg) rs2148595384
NM_001035.3(RYR2):c.5251A>T (p.Ile1751Phe) rs1573124154
NM_001035.3(RYR2):c.5266T>G (p.Ser1756Ala) rs1038625350
NM_001035.3(RYR2):c.5270T>C (p.Leu1757Pro)
NM_001035.3(RYR2):c.5279G>C (p.Arg1760Pro) rs765106198
NM_001035.3(RYR2):c.5291C>T (p.Ser1764Phe) rs1678236675
NM_001035.3(RYR2):c.5296C>T (p.Pro1766Ser) rs1573124513
NM_001035.3(RYR2):c.5299A>G (p.Ser1767Gly) rs751819202
NM_001035.3(RYR2):c.5309G>A (p.Ser1770Asn) rs1678239780
NM_001035.3(RYR2):c.530T>G (p.Val177Gly)
NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val) rs1678240011
NM_001035.3(RYR2):c.5315G>T (p.Ser1772Ile) rs1559116458
NM_001035.3(RYR2):c.5320G>A (p.Glu1774Lys)
NM_001035.3(RYR2):c.5321A>T (p.Glu1774Val)
NM_001035.3(RYR2):c.5332T>G (p.Tyr1778Asp) rs2148595965
NM_001035.3(RYR2):c.5374A>T (p.Ile1792Leu) rs878854159
NM_001035.3(RYR2):c.5410C>T (p.Leu1804Phe) rs367609940
NM_001035.3(RYR2):c.5414A>G (p.His1805Arg) rs759774382
NM_001035.3(RYR2):c.5417C>T (p.Ala1806Val) rs1415713582
NM_001035.3(RYR2):c.5433del (p.Thr1813fs) rs1678252821
NM_001035.3(RYR2):c.5437A>G (p.Thr1813Ala)
NM_001035.3(RYR2):c.5437A>T (p.Thr1813Ser)
NM_001035.3(RYR2):c.5441C>T (p.Thr1814Ile)
NM_001035.3(RYR2):c.544A>G (p.Ile182Val) rs2149792958
NM_001035.3(RYR2):c.5462T>C (p.Leu1821Pro)
NM_001035.3(RYR2):c.5473T>C (p.Phe1825Leu)
NM_001035.3(RYR2):c.5477A>G (p.Tyr1826Cys)
NM_001035.3(RYR2):c.5480C>A (p.Thr1827Asn) rs968046365
NM_001035.3(RYR2):c.5485C>G (p.Leu1829Val) rs876657991
NM_001035.3(RYR2):c.5507A>G (p.Asn1836Ser) rs1678261343
NM_001035.3(RYR2):c.5512G>A (p.Asp1838Asn)
NM_001035.3(RYR2):c.5512G>T (p.Asp1838Tyr) rs1559117015
NM_001035.3(RYR2):c.5519A>G (p.Lys1840Arg)
NM_001035.3(RYR2):c.551_554del (p.Val184fs)
NM_001035.3(RYR2):c.5521C>G (p.His1841Asp) rs1678263302
NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr) rs1168483242
NM_001035.3(RYR2):c.5594A>G (p.Glu1865Gly) rs2148597888
NM_001035.3(RYR2):c.5601G>T (p.Glu1867Asp)
NM_001035.3(RYR2):c.5611G>T (p.Asp1871Tyr) rs1678273557
NM_001035.3(RYR2):c.5612A>G (p.Asp1871Gly) rs895322404
NM_001035.3(RYR2):c.5616T>A (p.Asp1872Glu)
NM_001035.3(RYR2):c.5635G>A (p.Gly1879Ser) rs1678277050
NM_001035.3(RYR2):c.5639A>T (p.Glu1880Val) rs727504792
NM_001035.3(RYR2):c.5651A>G (p.Lys1884Arg)
NM_001035.3(RYR2):c.5652_5653delinsTT (p.Lys1884_Gly1885delinsAsnTrp) rs2148598407
NM_001035.3(RYR2):c.5653G>C (p.Gly1885Arg) rs200197527
NM_001035.3(RYR2):c.5660A>C (p.Lys1887Thr) rs1415979370
NM_001035.3(RYR2):c.5660A>T (p.Lys1887Met)
NM_001035.3(RYR2):c.5663G>T (p.Arg1888Leu) rs869025511
NM_001035.3(RYR2):c.5668A>G (p.Lys1890Glu)
NM_001035.3(RYR2):c.5711T>C (p.Leu1904Ser) rs1678290289
NM_001035.3(RYR2):c.5716-3T>A rs1573142057
NM_001035.3(RYR2):c.5723T>C (p.Leu1908Pro)
NM_001035.3(RYR2):c.5740T>C (p.Cys1914Arg)
NM_001035.3(RYR2):c.574T>G (p.Leu192Val)
NM_001035.3(RYR2):c.5752G>T (p.Val1918Phe) rs912197043
NM_001035.3(RYR2):c.576+1G>T
NM_001035.3(RYR2):c.5764A>G (p.Ile1922Val) rs374874044
NM_001035.3(RYR2):c.5764A>T (p.Ile1922Leu)
NM_001035.3(RYR2):c.5771C>G (p.Ala1924Gly) rs776358808
NM_001035.3(RYR2):c.5773A>G (p.Ile1925Val) rs1678588295
NM_001035.3(RYR2):c.5806C>A (p.Leu1936Ile) rs2148613988
NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys) rs754811291
NM_001035.3(RYR2):c.5836G>A (p.Glu1946Lys) rs267598436
NM_001035.3(RYR2):c.5838A>C (p.Glu1946Asp) rs1485391345
NM_001035.3(RYR2):c.5857A>C (p.Met1953Leu) rs1057518592
NM_001035.3(RYR2):c.5858T>C (p.Met1953Thr)
NM_001035.3(RYR2):c.5875G>A (p.Ala1959Thr)
NM_001035.3(RYR2):c.5882A>G (p.Lys1961Arg)
NM_001035.3(RYR2):c.5895del (p.Phe1965fs)
NM_001035.3(RYR2):c.5899T>C (p.Ser1967Pro)
NM_001035.3(RYR2):c.5920A>C (p.Asn1974His) rs1450235463
NM_001035.3(RYR2):c.5920A>G (p.Asn1974Asp)
NM_001035.3(RYR2):c.5925G>A (p.Met1975Ile) rs1060500165
NM_001035.3(RYR2):c.5940G>C (p.Lys1980Asn)
NM_001035.3(RYR2):c.5944G>C (p.Asp1982His)
NM_001035.3(RYR2):c.594C>A (p.Asn198Lys)
NM_001035.3(RYR2):c.595G>A (p.Gly199Ser) rs886046261
NM_001035.3(RYR2):c.596G>T (p.Gly199Val) rs754911836
NM_001035.3(RYR2):c.5980G>T (p.Asp1994Tyr)
NM_001035.3(RYR2):c.5984A>T (p.Gln1995Leu) rs2148649347
NM_001035.3(RYR2):c.5994T>A (p.Asp1998Glu) rs2148649411
NM_001035.3(RYR2):c.5999A>G (p.His2000Arg) rs1679359996
NM_001035.3(RYR2):c.6003A>C (p.Glu2001Asp)
NM_001035.3(RYR2):c.6004G>A (p.Asp2002Asn) rs2148649453
NM_001035.3(RYR2):c.6005A>G (p.Asp2002Gly)
NM_001035.3(RYR2):c.6017A>G (p.His2006Arg) rs1553528609
NM_001035.3(RYR2):c.6020G>T (p.Cys2007Phe) rs1251250228
NM_001035.3(RYR2):c.6022+6G>A rs1679363703
NM_001035.3(RYR2):c.6027T>G (p.Ile2009Met) rs1553529773
NM_001035.3(RYR2):c.6044G>A (p.Gly2015Glu)
NM_001035.3(RYR2):c.6053A>G (p.Asp2018Gly) rs1679572780
NM_001035.3(RYR2):c.606C>A (p.His202Gln) rs1438256315
NM_001035.3(RYR2):c.6077G>C (p.Arg2026Thr)
NM_001035.3(RYR2):c.607G>A (p.Val203Met) rs1158346329
NM_001035.3(RYR2):c.6080G>T (p.Gly2027Val) rs2148657684
NM_001035.3(RYR2):c.6091T>A (p.Ser2031Thr)
NM_001035.3(RYR2):c.6094C>G (p.Leu2032Val)
NM_001035.3(RYR2):c.6105G>A (p.Lys2035=)
NM_001035.3(RYR2):c.6118AAG[4] (p.Lys2042_Gln2043insLys)
NM_001035.3(RYR2):c.611A>T (p.Asp204Val) rs2149842971
NM_001035.3(RYR2):c.6134A>G (p.Glu2045Gly) rs878854160
NM_001035.3(RYR2):c.6149G>A (p.Ser2050Asn) rs1679582199
NM_001035.3(RYR2):c.6163T>C (p.Ser2055Pro) rs746490469
NM_001035.3(RYR2):c.6166+6C>T rs1679584792
NM_001035.3(RYR2):c.6166+7A>G rs1679585107
NM_001035.3(RYR2):c.6170C>T (p.Thr2057Ile) rs1679842104
NM_001035.3(RYR2):c.6191A>G (p.Glu2064Gly)
NM_001035.3(RYR2):c.6212A>C (p.Gln2071Pro) rs1426800953
NM_001035.3(RYR2):c.6231C>A (p.Asp2077Glu) rs1407541809
NM_001035.3(RYR2):c.6235G>A (p.Glu2079Lys)
NM_001035.3(RYR2):c.623A>C (p.Gln208Pro) rs778071716
NM_001035.3(RYR2):c.6245G>A (p.Arg2082Lys)
NM_001035.3(RYR2):c.6268C>T (p.Arg2090Trp) rs1284802339
NM_001035.3(RYR2):c.6274T>C (p.Tyr2092His)
NM_001035.3(RYR2):c.6293T>G (p.Leu2098Arg) rs2148667139
NM_001035.3(RYR2):c.6295G>A (p.Val2099Ile) rs767569006
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp) rs753164125
NM_001035.3(RYR2):c.6302C>T (p.Ala2101Val) rs2148667213
NM_001035.3(RYR2):c.6310A>C (p.Lys2104Gln) rs2148667245
NM_001035.3(RYR2):c.6322A>G (p.Ile2108Val) rs2148667315
NM_001035.3(RYR2):c.6331G>T (p.Val2111Leu) rs2148667347
NM_001035.3(RYR2):c.6349A>G (p.Ile2117Val)
NM_001035.3(RYR2):c.6367C>T (p.Leu2123Phe) rs1060500159
NM_001035.3(RYR2):c.6380G>A (p.Arg2127Gln) rs397516547
NM_001035.3(RYR2):c.638G>A (p.Ser213Asn) rs1702026122
NM_001035.3(RYR2):c.639C>A (p.Ser213Arg) rs375180398
NM_001035.3(RYR2):c.6408A>C (p.Lys2136Asn) rs2148667612
NM_001035.3(RYR2):c.6419A>C (p.Lys2140Thr) rs1443634453
NM_001035.3(RYR2):c.6452A>T (p.Asn2151Ile)
NM_001035.3(RYR2):c.6472C>G (p.His2158Asp) rs1680241133
NM_001035.3(RYR2):c.6476C>A (p.Pro2159His) rs1680241596
NM_001035.3(RYR2):c.6506A>G (p.Glu2169Gly) rs1064794183
NM_001035.3(RYR2):c.6531C>G (p.Asn2177Lys) rs757298566
NM_001035.3(RYR2):c.6546A>G (p.Gly2182=)
NM_001035.3(RYR2):c.6549_6555+3dup
NM_001035.3(RYR2):c.6568C>A (p.Pro2190Thr) rs1558103839
NM_001035.3(RYR2):c.6574A>G (p.Met2192Val)
NM_001035.3(RYR2):c.6580G>T (p.Ala2194Ser)
NM_001035.3(RYR2):c.6587G>A (p.Cys2196Tyr) rs1680567505
NM_001035.3(RYR2):c.6593G>A (p.Arg2198His) rs375935636
NM_001035.3(RYR2):c.6598C>G (p.Leu2200Val)
NM_001035.3(RYR2):c.659G>A (p.Gly220Glu) rs786205454
NM_001035.3(RYR2):c.6603T>G (p.Cys2201Trp) rs2148700795
NM_001035.3(RYR2):c.6613C>G (p.Arg2205Gly) rs1558103888
NM_001035.3(RYR2):c.6613C>T (p.Arg2205Cys) rs1558103888
NM_001035.3(RYR2):c.661A>G (p.Ser221Gly) rs1553431798
NM_001035.3(RYR2):c.6637G>T (p.Ala2213Ser) rs1680569929
NM_001035.3(RYR2):c.6637_6644delinsTCAAAATAAC (p.Ala2213_Phe2215delinsSerLysTer) rs1680570117
NM_001035.3(RYR2):c.6638C>T (p.Ala2213Val) rs1060500144
NM_001035.3(RYR2):c.6667G>C (p.Glu2223Gln)
NM_001035.3(RYR2):c.667G>A (p.Ala223Thr) rs1558732422
NM_001035.3(RYR2):c.6689-1G>A rs794728822
NM_001035.3(RYR2):c.6702G>C (p.Met2234Ile)
NM_001035.3(RYR2):c.6706G>A (p.Gly2236Ser) rs1680719186
NM_001035.3(RYR2):c.6713C>T (p.Thr2238Ile) rs2148707248
NM_001035.3(RYR2):c.6716C>T (p.Pro2239Leu) rs1680720163
NM_001035.3(RYR2):c.671C>T (p.Ala224Val)
NM_001035.3(RYR2):c.6730G>A (p.Ala2244Thr)
NM_001035.3(RYR2):c.6743T>C (p.Met2248Thr)
NM_001035.3(RYR2):c.6754G>A (p.Glu2252Lys) rs1318607228
NM_001035.3(RYR2):c.676+3A>G rs1702028230
NM_001035.3(RYR2):c.6760G>A (p.Ala2254Thr) rs1680726117
NM_001035.3(RYR2):c.6773G>C (p.Arg2258Pro) rs779289104
NM_001035.3(RYR2):c.6792+5G>A rs1410840833
NM_001035.3(RYR2):c.6792G>C (p.Lys2264Asn) rs1680728738
NM_001035.3(RYR2):c.6792G>T (p.Lys2264Asn) rs1680728738
NM_001035.3(RYR2):c.6793-5T>G rs1060500148
NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys) rs375371340
NM_001035.3(RYR2):c.6817G>A (p.Gly2273Arg) rs1681095773
NM_001035.3(RYR2):c.6827G>T (p.Ser2276Ile) rs1247927726
NM_001035.3(RYR2):c.682C>T (p.Leu228Phe)
NM_001035.3(RYR2):c.6834G>C (p.Gln2278His) rs1269962708
NM_001035.3(RYR2):c.6850G>T (p.Gly2284Cys)
NM_001035.3(RYR2):c.6853T>A (p.Tyr2285Asn) rs1681099721
NM_001035.3(RYR2):c.685A>C (p.Ile229Leu)
NM_001035.3(RYR2):c.685A>T (p.Ile229Phe) rs368653489
NM_001035.3(RYR2):c.6871A>G (p.Asn2291Asp) rs1681101676
NM_001035.3(RYR2):c.6880G>A (p.Glu2294Lys) rs1238576332
NM_001035.3(RYR2):c.6895C>G (p.Leu2299Val) rs2148724365
NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly) rs1681104142
NM_001035.3(RYR2):c.689G>A (p.Gly230Asp) rs794728710
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser) rs2148724464
NM_001035.3(RYR2):c.691G>T (p.Gly231Cys) rs2149847466
NM_001035.3(RYR2):c.6922T>C (p.Cys2308Arg) rs1681106353
NM_001035.3(RYR2):c.6927T>C (p.Asn2309=)
NM_001035.3(RYR2):c.6934A>G (p.Ser2312Gly) rs1060500164
NM_001035.3(RYR2):c.6938T>C (p.Val2313Ala) rs1681171235
NM_001035.3(RYR2):c.6950C>T (p.Ala2317Val) rs794728750
NM_001035.3(RYR2):c.6958G>A (p.Val2320Met) rs1057522884
NM_001035.3(RYR2):c.6967T>G (p.Leu2323Val)
NM_001035.3(RYR2):c.6973A>T (p.Ile2325Phe) rs1060500138
NM_001035.3(RYR2):c.6985G>A (p.Glu2329Lys)
NM_001035.3(RYR2):c.6994G>T (p.Gly2332Cys) rs766508848
NM_001035.3(RYR2):c.6C>A (p.Ala2=) rs1019441723
NM_001035.3(RYR2):c.7000G>A (p.Ala2334Thr) rs1681178084
NM_001035.3(RYR2):c.7007GAG[1] (p.Gly2337del)
NM_001035.3(RYR2):c.7022A>G (p.Asn2341Ser) rs1681180500
NM_001035.3(RYR2):c.7025G>T (p.Gly2342Val) rs794728751
NM_001035.3(RYR2):c.7030C>T (p.Leu2344Phe) rs2148728141
NM_001035.3(RYR2):c.7031T>C (p.Leu2344Pro) rs2148728162
NM_001035.3(RYR2):c.7045_7057del (p.Glu2349fs)
NM_001035.3(RYR2):c.7046A>G (p.Glu2349Gly)
NM_001035.3(RYR2):c.7052T>C (p.Ile2351Thr) rs1282045319
NM_001035.3(RYR2):c.7063_7064delinsTT (p.Glu2355Leu)
NM_001035.3(RYR2):c.7073C>A (p.Ser2358Tyr) rs954868104
NM_001035.3(RYR2):c.7078G>A (p.Asp2360Asn)
NM_001035.3(RYR2):c.7081G>A (p.Gly2361Ser)
NM_001035.3(RYR2):c.7084C>G (p.Pro2362Ala) rs1681189802
NM_001035.3(RYR2):c.7105A>G (p.Ser2369Gly) rs1327450246
NM_001035.3(RYR2):c.7108A>G (p.Lys2370Glu)
NM_001035.3(RYR2):c.7114C>A (p.Leu2372Ile) rs765925963
NM_001035.3(RYR2):c.7114C>T (p.Leu2372Phe)
NM_001035.3(RYR2):c.7115+4G>T rs1681194479
NM_001035.3(RYR2):c.7115+6T>G rs2148728871
NM_001035.3(RYR2):c.7115T>C (p.Leu2372Pro) rs1245506727
NM_001035.3(RYR2):c.7115T>G (p.Leu2372Arg) rs1245506727
NM_001035.3(RYR2):c.7116-2A>G rs2148738146
NM_001035.3(RYR2):c.7124A>G (p.Glu2375Gly) rs1553264645
NM_001035.3(RYR2):c.7134A>T (p.Glu2378Asp)
NM_001035.3(RYR2):c.7158C>A (p.Asn2386Lys) rs376057173
NM_001035.3(RYR2):c.7158C>G (p.Asn2386Lys) rs376057173
NM_001035.3(RYR2):c.7177T>C (p.Ser2393Pro) rs1553264716
NM_001035.3(RYR2):c.7195T>G (p.Leu2399Val) rs1681407618
NM_001035.3(RYR2):c.7196T>A (p.Leu2399Ter) rs1573284644
NM_001035.3(RYR2):c.7199G>A (p.Gly2400Glu) rs1681408105
NM_001035.3(RYR2):c.7207G>A (p.Ala2403Thr) rs1456929288
NM_001035.3(RYR2):c.7210_7212del (p.Pro2404del) rs1681410223
NM_001035.3(RYR2):c.721A>G (p.Met241Val)
NM_001035.3(RYR2):c.7221+5G>A
NM_001035.3(RYR2):c.7221+5G>T rs1060500153
NM_001035.3(RYR2):c.7225A>T (p.Ile2409Phe) rs1553265773
NM_001035.3(RYR2):c.7232C>T (p.Ala2411Val)
NM_001035.3(RYR2):c.724_725delinsAT (p.Asp242Ile) rs1060500162
NM_001035.3(RYR2):c.7253G>C (p.Arg2418Thr)
NM_001035.3(RYR2):c.7259G>C (p.Arg2420Thr) rs1060500170
NM_001035.3(RYR2):c.725A>G (p.Asp242Gly) rs1318491246
NM_001035.3(RYR2):c.725A>T (p.Asp242Val)
NM_001035.3(RYR2):c.7269G>T (p.Leu2423Phe)
NM_001035.3(RYR2):c.7276C>T (p.Leu2426Phe) rs2148757954
NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg)
NM_001035.3(RYR2):c.7279A>G (p.Ile2427Val)
NM_001035.3(RYR2):c.727G>A (p.Glu243Lys) rs794728712
NM_001035.3(RYR2):c.727G>C (p.Glu243Gln) rs794728712
NM_001035.3(RYR2):c.728A>G (p.Glu243Gly) rs753663342
NM_001035.3(RYR2):c.7291G>T (p.Asp2431Tyr) rs1553265823
NM_001035.3(RYR2):c.7303G>A (p.Val2435Ile)
NM_001035.3(RYR2):c.7303G>C (p.Val2435Leu) rs188835713
NM_001035.3(RYR2):c.7304T>C (p.Val2435Ala)
NM_001035.3(RYR2):c.7306A>T (p.Ile2436Phe) rs1681780165
NM_001035.3(RYR2):c.7310G>A (p.Ser2437Asn)
NM_001035.3(RYR2):c.7312A>G (p.Ile2438Val) rs755072769
NM_001035.3(RYR2):c.7326G>A (p.Met2442Ile) rs2148758415
NM_001035.3(RYR2):c.7330A>G (p.Thr2444Ala) rs1681783995
NM_001035.3(RYR2):c.733C>G (p.Leu245Val) rs2149847911
NM_001035.3(RYR2):c.7342+6G>A rs2148758542
NM_001035.3(RYR2):c.7342+6G>T
NM_001035.3(RYR2):c.7343-1G>T rs2148789350
NM_001035.3(RYR2):c.7343-2A>G rs778152200
NM_001035.3(RYR2):c.7354G>T (p.Val2452Leu)
NM_001035.3(RYR2):c.7391A>G (p.His2464Arg) rs1558137849
NM_001035.3(RYR2):c.739G>A (p.Val247Ile) rs1261194692
NM_001035.3(RYR2):c.7405G>A (p.Val2469Ile)
NM_001035.3(RYR2):c.7411T>C (p.Phe2471Leu) rs2148789721
NM_001035.3(RYR2):c.7419C>G (p.Asp2473Glu)
NM_001035.3(RYR2):c.7424_7431del (p.Val2475fs)
NM_001035.3(RYR2):c.7427A>G (p.Tyr2476Cys) rs1573330149
NM_001035.3(RYR2):c.7427A>T (p.Tyr2476Phe) rs1573330149
NM_001035.3(RYR2):c.7433T>C (p.Ile2478Thr) rs2148789857
NM_001035.3(RYR2):c.7438G>T (p.Val2480Phe) rs774182084
NM_001035.3(RYR2):c.7448TCC[2] (p.Leu2485del) rs1682402356
NM_001035.3(RYR2):c.7454T>A (p.Leu2485His) rs1558138015
NM_001035.3(RYR2):c.7454T>C (p.Leu2485Pro)
NM_001035.3(RYR2):c.7456C>T (p.His2486Tyr) rs1573330357
NM_001035.3(RYR2):c.7495G>T (p.Ala2499Ser) rs191850147
NM_001035.3(RYR2):c.749G>T (p.Gly250Val) rs376925177
NM_001035.3(RYR2):c.7505T>C (p.Leu2502Ser) rs1553267788
NM_001035.3(RYR2):c.7510A>G (p.Thr2504Ala) rs1480448087
NM_001035.3(RYR2):c.7512+3G>C rs2148790353
NM_001035.3(RYR2):c.7534A>G (p.Met2512Val) rs2148796155
NM_001035.3(RYR2):c.7535T>A (p.Met2512Lys) rs778838507
NM_001035.3(RYR2):c.7538C>T (p.Ala2513Val)
NM_001035.3(RYR2):c.7543G>A (p.Ala2515Thr) rs1682556050
NM_001035.3(RYR2):c.7546C>T (p.Leu2516Phe) rs775400701
NM_001035.3(RYR2):c.7558C>A (p.Leu2520Ile) rs1060500136
NM_001035.3(RYR2):c.755A>G (p.His252Arg) rs2149848141
NM_001035.3(RYR2):c.7600C>G (p.Leu2534Val) rs1553268221
NM_001035.3(RYR2):c.7601T>C (p.Leu2534Pro) rs1276253444
NM_001035.3(RYR2):c.7606G>C (p.Ala2536Pro)
NM_001035.3(RYR2):c.7626_7627delinsCA (p.Ser2543Thr)
NM_001035.3(RYR2):c.765G>C (p.Glu255Asp)
NM_001035.3(RYR2):c.7676G>T (p.Cys2559Phe)
NM_001035.3(RYR2):c.7681C>T (p.Leu2561Phe) rs2148796916
NM_001035.3(RYR2):c.7697G>C (p.Arg2566Pro) rs532016557
NM_001035.3(RYR2):c.7699G>A (p.Asp2567Asn)
NM_001035.3(RYR2):c.770G>A (p.Arg257Gln) rs1023176208
NM_001035.3(RYR2):c.7710A>C (p.Glu2570Asp)
NM_001035.3(RYR2):c.7714T>G (p.Cys2572Gly) rs750011838
NM_001035.3(RYR2):c.773+4A>G rs1702097862
NM_001035.3(RYR2):c.7734-19_7734-16dup
NM_001035.3(RYR2):c.7734-4A>G rs913227817
NM_001035.3(RYR2):c.7736A>G (p.Gln2579Arg) rs1573345482
NM_001035.3(RYR2):c.774-17T>G
NM_001035.3(RYR2):c.7742G>A (p.Arg2581Lys) rs1682718413
NM_001035.3(RYR2):c.7754T>C (p.Met2585Thr) rs1682720451
NM_001035.3(RYR2):c.776C>T (p.Thr259Ile) rs758585307
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val) rs761019645
NM_001035.3(RYR2):c.7783G>A (p.Asp2595Asn)
NM_001035.3(RYR2):c.7784A>G (p.Asp2595Gly) rs2148804103
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val) rs752607318
NM_001035.3(RYR2):c.7819C>G (p.Leu2607Val) rs1682727518
NM_001035.3(RYR2):c.7825-1G>A
NM_001035.3(RYR2):c.7856A>T (p.Lys2619Ile) rs2148817475
NM_001035.3(RYR2):c.7874G>C (p.Gly2625Ala) rs1331814541
NM_001035.3(RYR2):c.7878G>T (p.Gly2626=) rs1553269593
NM_001035.3(RYR2):c.7895C>T (p.Ala2632Val) rs1218556750
NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr) rs1683042825
NM_001035.3(RYR2):c.7927A>C (p.Lys2643Gln)
NM_001035.3(RYR2):c.792_800del (p.Gly265_Val267del) rs1305758482
NM_001035.3(RYR2):c.7940G>T (p.Gly2647Val) rs776908944
NM_001035.3(RYR2):c.7952C>T (p.Ala2651Val) rs1259240846
NM_001035.3(RYR2):c.7958C>A (p.Ser2653Tyr) rs1553269691
NM_001035.3(RYR2):c.7966-1G>C rs1553270488
NM_001035.3(RYR2):c.7966-2A>G
NM_001035.3(RYR2):c.7984T>G (p.Phe2662Val) rs2148823138
NM_001035.3(RYR2):c.7996C>A (p.Leu2666Met) rs370333448
NM_001035.3(RYR2):c.799G>T (p.Val267Leu)
NM_001035.3(RYR2):c.8000C>G (p.Pro2667Arg) rs1683196054
NM_001035.3(RYR2):c.8014G>C (p.Val2672Leu) rs1467546989
NM_001035.3(RYR2):c.801_802delinsAA (p.Ser268Thr) rs2150028824
NM_001035.3(RYR2):c.8033C>T (p.Pro2678Leu)
NM_001035.3(RYR2):c.8038T>G (p.Tyr2680Asp) rs181732213
NM_001035.3(RYR2):c.8060G>T (p.Ser2687Ile)
NM_001035.3(RYR2):c.8073del (p.Lys2691fs)
NM_001035.3(RYR2):c.8075A>T (p.Gln2692Leu)
NM_001035.3(RYR2):c.80C>G (p.Thr27Ser) rs1399536009
NM_001035.3(RYR2):c.811G>A (p.Ala271Thr)
NM_001035.3(RYR2):c.8120A>G (p.Asp2707Gly)
NM_001035.3(RYR2):c.8129+4T>C rs1683207512
NM_001035.3(RYR2):c.814C>T (p.Arg272Cys) rs771847292
NM_001035.3(RYR2):c.8155T>C (p.Tyr2719His)
NM_001035.3(RYR2):c.815G>A (p.Arg272His) rs377368967
NM_001035.3(RYR2):c.8176G>A (p.Glu2726Lys) rs1683416070
NM_001035.3(RYR2):c.8188G>A (p.Asp2730Asn) rs1683417536
NM_001035.3(RYR2):c.818C>T (p.Ser273Phe) rs794728715
NM_001035.3(RYR2):c.8195G>T (p.Trp2732Leu) rs1553271224
NM_001035.3(RYR2):c.8204A>G (p.Asp2735Gly) rs1213772557
NM_001035.3(RYR2):c.8208+1G>A rs1683419269
NM_001035.3(RYR2):c.820C>G (p.Leu274Val)
NM_001035.3(RYR2):c.8210T>A (p.Leu2737Ter)
NM_001035.3(RYR2):c.8222G>A (p.Trp2741Ter)
NM_001035.3(RYR2):c.8228A>C (p.Tyr2743Ser)
NM_001035.3(RYR2):c.8231G>A (p.Gly2744Glu)
NM_001035.3(RYR2):c.824G>A (p.Trp275Ter) rs2150028964
NM_001035.3(RYR2):c.8262G>T (p.Gln2754His) rs773748242
NM_001035.3(RYR2):c.8298+1G>T
NM_001035.3(RYR2):c.8309T>A (p.Ile2770Asn)
NM_001035.3(RYR2):c.8315G>A (p.Arg2772His)
NM_001035.3(RYR2):c.8315G>T (p.Arg2772Leu) rs922927449
NM_001035.3(RYR2):c.8332T>C (p.Ser2778Pro) rs1573391679
NM_001035.3(RYR2):c.833A>G (p.Glu278Gly)
NM_001035.3(RYR2):c.8342C>G (p.Thr2781Ser) rs369963696
NM_001035.3(RYR2):c.8344A>G (p.Met2782Val)
NM_001035.3(RYR2):c.8346G>A (p.Met2782Ile) rs1683716140
NM_001035.3(RYR2):c.8350G>T (p.Ala2784Ser) rs1458501318
NM_001035.3(RYR2):c.8353T>C (p.Trp2785Arg)
NM_001035.3(RYR2):c.8357G>T (p.Gly2786Val) rs1060500149
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr) rs1419719746
NM_001035.3(RYR2):c.8372G>T (p.Arg2791Ile) rs2148846476
NM_001035.3(RYR2):c.8380G>C (p.Glu2794Gln) rs2148846514
NM_001035.3(RYR2):c.8389A>G (p.Ser2797Gly)
NM_001035.3(RYR2):c.8396C>G (p.Ala2799Gly)
NM_001035.3(RYR2):c.8399T>C (p.Leu2800Pro)
NM_001035.3(RYR2):c.839T>C (p.Leu280Pro) rs794728716
NM_001035.3(RYR2):c.8413C>T (p.Arg2805Cys)
NM_001035.3(RYR2):c.8416C>A (p.Arg2806Ser) rs727504134
NM_001035.3(RYR2):c.8434C>T (p.Gln2812Ter)
NM_001035.3(RYR2):c.8437-3T>A rs924080705
NM_001035.3(RYR2):c.8453C>T (p.Ala2818Val) rs794728759
NM_001035.3(RYR2):c.8471G>A (p.Arg2824Gln)
NM_001035.3(RYR2):c.8473G>T (p.Ala2825Ser) rs1553274352
NM_001035.3(RYR2):c.848+1G>C rs772984053
NM_001035.3(RYR2):c.8482A>G (p.Met2828Val) rs948094250
NM_001035.3(RYR2):c.848C>G (p.Ala283Gly)
NM_001035.3(RYR2):c.84C>G (p.Ile28Met)
NM_001035.3(RYR2):c.8503A>G (p.Arg2835Gly) rs2148872889
NM_001035.3(RYR2):c.8508C>A (p.Asp2836Glu) rs757197730
NM_001035.3(RYR2):c.8514+1G>C
NM_001035.3(RYR2):c.8519T>C (p.Met2840Thr)
NM_001035.3(RYR2):c.8522C>A (p.Ala2841Glu)
NM_001035.3(RYR2):c.8543A>G (p.Tyr2848Cys) rs2148878470
NM_001035.3(RYR2):c.8554T>C (p.Trp2852Arg)
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del) rs794728835
NM_001035.3(RYR2):c.8575G>C (p.Glu2859Gln)
NM_001035.3(RYR2):c.8590+18C>A rs376966521
NM_001035.3(RYR2):c.8590+5T>C rs2148878658
NM_001035.3(RYR2):c.8590+6A>G rs1684469954
NM_001035.3(RYR2):c.8591G>A (p.Gly2864Glu) rs1186402933
NM_001035.3(RYR2):c.8596_8598del rs794728836
NM_001035.3(RYR2):c.8599A>C (p.Asn2867His) rs1685187563
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser) rs1031049689
NM_001035.3(RYR2):c.8618C>T (p.Pro2873Leu)
NM_001035.3(RYR2):c.8641G>A (p.Glu2881Lys) rs1685192501
NM_001035.3(RYR2):c.8653G>T (p.Asp2885Tyr) rs2148908834
NM_001035.3(RYR2):c.8677C>G (p.Leu2893Val) rs1573463670
NM_001035.3(RYR2):c.8683T>C (p.Phe2895Leu)
NM_001035.3(RYR2):c.8713A>G (p.Arg2905Gly)
NM_001035.3(RYR2):c.8714+6A>G rs1573463852
NM_001035.3(RYR2):c.8727C>G (p.Asp2909Glu) rs1685250255
NM_001035.3(RYR2):c.8750T>C (p.Ile2917Thr)
NM_001035.3(RYR2):c.8759G>A (p.Arg2920Gln) rs756302327
NM_001035.3(RYR2):c.8759G>C (p.Arg2920Pro) rs756302327
NM_001035.3(RYR2):c.8767T>G (p.Tyr2923Asp)
NM_001035.3(RYR2):c.8768A>G (p.Tyr2923Cys) rs926338576
NM_001035.3(RYR2):c.8785C>T (p.Leu2929Phe) rs2148911764
NM_001035.3(RYR2):c.8792G>A (p.Arg2931His) rs905226907
NM_001035.3(RYR2):c.8795A>T (p.Tyr2932Phe)
NM_001035.3(RYR2):c.8801A>G (p.Asp2934Gly)
NM_001035.3(RYR2):c.8810A>G (p.His2937Arg)
NM_001035.3(RYR2):c.8813A>G (p.Gln2938Arg) rs1685257592
NM_001035.3(RYR2):c.8818A>G (p.Ile2940Val)
NM_001035.3(RYR2):c.8819T>C (p.Ile2940Thr)
NM_001035.3(RYR2):c.8830+4G>A
NM_001035.3(RYR2):c.8846G>T (p.Gly2949Val) rs1399706297
NM_001035.3(RYR2):c.8879T>A (p.Ile2960Asn) rs759048462
NM_001035.3(RYR2):c.887G>A (p.Arg296Gln) rs1705763277
NM_001035.3(RYR2):c.8886C>A (p.Phe2962Leu) rs372703473
NM_001035.3(RYR2):c.8896-1G>A rs2148936331
NM_001035.3(RYR2):c.8911A>G (p.Ile2971Val) rs1685776923
NM_001035.3(RYR2):c.8921A>G (p.Tyr2974Cys) rs1685778254
NM_001035.3(RYR2):c.8926A>C (p.Lys2976Gln)
NM_001035.3(RYR2):c.8926A>G (p.Lys2976Glu)
NM_001035.3(RYR2):c.8927A>G (p.Lys2976Arg) rs1558206523
NM_001035.3(RYR2):c.8935C>T (p.Arg2979Cys) rs1685779180
NM_001035.3(RYR2):c.893G>T (p.Arg298Leu) rs754259295
NM_001035.3(RYR2):c.8955A>G (p.Ala2985=)
NM_001035.3(RYR2):c.8972G>A (p.Cys2991Tyr) rs1685782698
NM_001035.3(RYR2):c.8995A>G (p.Lys2999Glu)
NM_001035.3(RYR2):c.9003del (p.Glu3002fs)
NM_001035.3(RYR2):c.9017+6C>T rs1685786232
NM_001035.3(RYR2):c.9028A>G (p.Lys3010Glu) rs1686529459
NM_001035.3(RYR2):c.902C>G (p.Thr301Arg)
NM_001035.3(RYR2):c.9037G>A (p.Val3013Ile)
NM_001035.3(RYR2):c.9043G>C (p.Val3015Leu) rs1490052579
NM_001035.3(RYR2):c.9044T>G (p.Val3015Gly)
NM_001035.3(RYR2):c.904A>G (p.Thr302Ala) rs1178740695
NM_001035.3(RYR2):c.9068G>T (p.Gly3023Val) rs1687729156
NM_001035.3(RYR2):c.9072T>A (p.Asn3024Lys)
NM_001035.3(RYR2):c.9073G>A (p.Asp3025Asn) rs1687730026
NM_001035.3(RYR2):c.9079A>G (p.Thr3027Ala)
NM_001035.3(RYR2):c.9095G>C (p.Cys3032Ser)
NM_001035.3(RYR2):c.9095_9098del (p.Cys3032fs)
NM_001035.3(RYR2):c.910A>G (p.Lys304Glu)
NM_001035.3(RYR2):c.9116C>G (p.Thr3039Ser)
NM_001035.3(RYR2):c.9125C>A (p.Ala3042Glu) rs794728762
NM_001035.3(RYR2):c.9128+5del rs1553289116
NM_001035.3(RYR2):c.9129G>A (p.Arg3043=) rs1687847434
NM_001035.3(RYR2):c.9134T>C (p.Val3045Ala) rs1687848357
NM_001035.3(RYR2):c.9148C>A (p.Leu3050Met)
NM_001035.3(RYR2):c.917T>G (p.Leu306Trp) rs2150058362
NM_001035.3(RYR2):c.9182T>G (p.Leu3061Arg) rs1687852877
NM_001035.3(RYR2):c.9187A>G (p.Asn3063Asp) rs889751102
NM_001035.3(RYR2):c.919A>G (p.Ser307Gly)
NM_001035.3(RYR2):c.9214A>G (p.Met3072Val)
NM_001035.3(RYR2):c.9215T>C (p.Met3072Thr) rs2149031471
NM_001035.3(RYR2):c.9221A>C (p.Asn3074Thr)
NM_001035.3(RYR2):c.9223C>A (p.Leu3075Ile) rs1243072954
NM_001035.3(RYR2):c.9301C>G (p.Leu3101Val)
NM_001035.3(RYR2):c.9303dup (p.Leu3102fs)
NM_001035.3(RYR2):c.9308C>G (p.Pro3103Arg) rs1208496897
NM_001035.3(RYR2):c.9308C>T (p.Pro3103Leu) rs1208496897
NM_001035.3(RYR2):c.9312G>C (p.Met3104Ile) rs1687864137
NM_001035.3(RYR2):c.9317_9318delinsTG (p.Ser3106Leu) rs1687864745
NM_001035.3(RYR2):c.9340C>T (p.Gln3114Ter)
NM_001035.3(RYR2):c.9346C>T (p.Gln3116Ter)
NM_001035.3(RYR2):c.9358G>C (p.Asp3120His) rs794728764
NM_001035.3(RYR2):c.9366A>G (p.Ile3122Met) rs1687868751
NM_001035.3(RYR2):c.9367+4T>C rs1687869394
NM_001035.3(RYR2):c.9367+6T>C
NM_001035.3(RYR2):c.9367T>C (p.Leu3123=) rs2149032196
NM_001035.3(RYR2):c.9368-11T>C
NM_001035.3(RYR2):c.9368-12_9368-11del
NM_001035.3(RYR2):c.9392A>C (p.Tyr3131Ser)
NM_001035.3(RYR2):c.9392A>G (p.Tyr3131Cys) rs1342384519
NM_001035.3(RYR2):c.9412T>C (p.Tyr3138His) rs794728765
NM_001035.3(RYR2):c.942_944del (p.Leu316del) rs749937926
NM_001035.3(RYR2):c.9432G>C (p.Lys3144Asn)
NM_001035.3(RYR2):c.9434G>T (p.Ser3145Ile) rs1688011604
NM_001035.3(RYR2):c.9449+6A>G rs2149038687
NM_001035.3(RYR2):c.9455G>A (p.Arg3152His)
NM_001035.3(RYR2):c.9457T>C (p.Ser3153Pro)
NM_001035.3(RYR2):c.9458C>T (p.Ser3153Phe)
NM_001035.3(RYR2):c.9478G>C (p.Ala3160Pro) rs1444464397
NM_001035.3(RYR2):c.9494C>T (p.Ala3165Val)
NM_001035.3(RYR2):c.949A>G (p.Met317Val) rs754558924
NM_001035.3(RYR2):c.94C>A (p.Gln32Lys) rs1553373926
NM_001035.3(RYR2):c.9502G>A (p.Val3168Ile) rs1473666484
NM_001035.3(RYR2):c.9506C>A (p.Ala3169Glu)
NM_001035.3(RYR2):c.9508T>C (p.Phe3170Leu)
NM_001035.3(RYR2):c.9517A>C (p.Thr3173Pro)
NM_001035.3(RYR2):c.9521A>G (p.His3174Arg)
NM_001035.3(RYR2):c.9559A>T (p.Lys3187Ter) rs939109036
NM_001035.3(RYR2):c.9568C>T (p.Arg3190Ter) rs1484075889
NM_001035.3(RYR2):c.9580+6A>C rs2149050610
NM_001035.3(RYR2):c.9580+6A>G
NM_001035.3(RYR2):c.9586del (p.Ser3196fs)
NM_001035.3(RYR2):c.9590T>C (p.Leu3197Ser)
NM_001035.3(RYR2):c.9599A>C (p.Asn3200Thr) rs1688433173
NM_001035.3(RYR2):c.9614G>T (p.Cys3205Phe) rs2149058149
NM_001035.3(RYR2):c.9625C>T (p.Pro3209Ser) rs767375014
NM_001035.3(RYR2):c.9642_9643delinsT (p.Met3215fs) rs1558258790
NM_001035.3(RYR2):c.9645G>A (p.Met3215Ile) rs1688437148
NM_001035.3(RYR2):c.9645G>T (p.Met3215Ile)
NM_001035.3(RYR2):c.9676A>G (p.Ile3226Val)
NM_001035.3(RYR2):c.9680G>C (p.Arg3227Pro)
NM_001035.3(RYR2):c.9683A>G (p.Tyr3228Cys)
NM_001035.3(RYR2):c.9693G>A (p.Met3231Ile) rs748858246
NM_001035.3(RYR2):c.9693G>T (p.Met3231Ile) rs748858246
NM_001035.3(RYR2):c.9694C>T (p.Pro3232Ser) rs1688442582
NM_001035.3(RYR2):c.9698A>G (p.His3233Arg) rs1386204884
NM_001035.3(RYR2):c.969T>G (p.Asp323Glu)
NM_001035.3(RYR2):c.9701T>C (p.Val3234Ala)
NM_001035.3(RYR2):c.9703A>T (p.Met3235Leu) rs773957909
NM_001035.3(RYR2):c.9722T>C (p.Met3241Thr)
NM_001035.3(RYR2):c.9724C>T (p.Leu3242Phe) rs1060500147
NM_001035.3(RYR2):c.9765G>C (p.Glu3255Asp) rs1558259322
NM_001035.3(RYR2):c.9787A>T (p.Met3263Leu) rs1014875855
NM_001035.3(RYR2):c.9799G>A (p.Ala3267Thr)
NM_001035.3(RYR2):c.9800C>T (p.Ala3267Val) rs2149059247
NM_001035.3(RYR2):c.9808T>A (p.Ser3270Thr)
NM_001035.3(RYR2):c.9824C>T (p.Thr3275Ile) rs756918556
NM_001035.3(RYR2):c.9826C>T (p.Leu3276Phe)
NM_001035.3(RYR2):c.9830T>C (p.Leu3277Pro)
NM_001035.3(RYR2):c.9844A>G (p.Lys3282Glu)
NM_001035.3(RYR2):c.9848T>C (p.Ile3283Thr)
NM_001035.3(RYR2):c.9850A>G (p.Ile3284Val) rs1688456675
NM_001035.3(RYR2):c.9884G>A (p.Trp3295Ter) rs2149059730
NM_001035.3(RYR2):c.9886A>T (p.Met3296Leu) rs1688459724
NM_001035.3(RYR2):c.9887T>C (p.Met3296Thr) rs876661390
NM_001035.3(RYR2):c.9918A>G (p.Ile3306Met)
NM_001035.3(RYR2):c.9922A>G (p.Asn3308Asp) rs1688594106
NM_001035.3(RYR2):c.9926A>G (p.Lys3309Arg) rs2149066547
NM_001035.3(RYR2):c.9948A>C (p.Lys3316Asn)
NM_001035.3(RYR2):c.9958T>G (p.Leu3320Val) rs986776770
NM_001035.3(RYR2):c.9967A>G (p.Met3323Val) rs773288086
NM_001035.3(RYR2):c.9974A>G (p.Lys3325Arg) rs1427986585
NM_001035.3(RYR2):c.9982A>G (p.Lys3328Glu) rs763136948
NM_001035.3(RYR2):c.9988G>A (p.Ala3330Thr) rs1688598517
NM_001035.3(RYR2):c.9992C>A (p.Ala3331Asp)
NM_001232.4(CASQ2):c.1006G>C (p.Val336Leu)
NM_001232.4(CASQ2):c.1015-1G>A rs1654202571
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly) rs1280686043
NM_001232.4(CASQ2):c.1021A>G (p.Ser341Gly)
NM_001232.4(CASQ2):c.1029G>C (p.Trp343Cys) rs2101052355
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu) rs1295335060
NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser) rs786205792
NM_001232.4(CASQ2):c.1119AGATGATGATGA[1] (p.373EDDD[1]) rs764957093
NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del) rs202241842
NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del) rs765914619
NM_001232.4(CASQ2):c.1132GAT[4] (p.Asp382_Asp383del)
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu) rs150486780
NM_001232.4(CASQ2):c.1137T>G (p.Asp379Glu) rs776130201
NM_001232.4(CASQ2):c.1149T>A (p.Asp383Glu) rs1206628721
NM_001232.4(CASQ2):c.115G>A (p.Glu39Lys) rs756636650
NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln)
NM_001232.4(CASQ2):c.1168A>G (p.Asn390Asp) rs1570791816
NM_001232.4(CASQ2):c.1187A>T (p.Asp396Val)
NM_001232.4(CASQ2):c.1188T>A (p.Asp396Glu) rs751885773
NM_001232.4(CASQ2):c.1188TGA[4] (p.Asp398dup) rs72554070
NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu) rs786205797
NM_001232.4(CASQ2):c.1192G>A (p.Asp398Asn) rs1654192683
NM_001232.4(CASQ2):c.146A>G (p.Tyr49Cys)
NM_001232.4(CASQ2):c.158G>A (p.Cys53Tyr) rs151168851
NM_001232.4(CASQ2):c.175C>A (p.Pro59Thr) rs866858282
NM_001232.4(CASQ2):c.226_227inv (p.Val76Thr)
NM_001232.4(CASQ2):c.22A>G (p.Ile8Val) rs1649206559
NM_001232.4(CASQ2):c.235-3C>T rs1186837357
NM_001232.4(CASQ2):c.23T>C (p.Ile8Thr) rs1553197935
NM_001232.4(CASQ2):c.242C>T (p.Ala81Val) rs1648331024
NM_001232.4(CASQ2):c.250C>T (p.Leu84Phe) rs1274422352
NM_001232.4(CASQ2):c.265A>G (p.Ile89Val)
NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg)
NM_001232.4(CASQ2):c.271T>C (p.Phe91Leu) rs1181984320
NM_001232.4(CASQ2):c.278T>C (p.Met93Thr) rs1328122344
NM_001232.4(CASQ2):c.286G>A (p.Ala96Thr) rs2101100994
NM_001232.4(CASQ2):c.292A>G (p.Lys98Glu)
NM_001232.4(CASQ2):c.299C>T (p.Ala100Val)
NM_001232.4(CASQ2):c.305T>A (p.Leu102His)
NM_001232.4(CASQ2):c.31A>T (p.Ile11Phe) rs2101130741
NM_001232.4(CASQ2):c.320-3C>T
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del) rs1358515759
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val) rs946911897
NM_001232.4(CASQ2):c.337A>C (p.Ser113Arg)
NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn) rs752330104
NM_001232.4(CASQ2):c.354G>A (p.Lys118=) rs1648148662
NM_001232.4(CASQ2):c.389C>T (p.Ala130Val)
NM_001232.4(CASQ2):c.406G>A (p.Glu136Lys)
NM_001232.4(CASQ2):c.421C>T (p.Leu141=) rs1570831673
NM_001232.4(CASQ2):c.422T>G (p.Leu141Arg) rs1648036832
NM_001232.4(CASQ2):c.446T>G (p.Ile149Ser) rs1060502165
NM_001232.4(CASQ2):c.467_478del (p.Gln156_Glu159del) rs1648034165
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) rs146333579
NM_001232.4(CASQ2):c.487G>A (p.Asp163Asn)
NM_001232.4(CASQ2):c.498A>T (p.Lys166Asn) rs2101091967
NM_001232.4(CASQ2):c.538A>C (p.Lys180Gln)
NM_001232.4(CASQ2):c.541G>C (p.Ala181Pro) rs745879915
NM_001232.4(CASQ2):c.579C>G (p.Ile193Met)
NM_001232.4(CASQ2):c.581A>C (p.Lys194Thr) rs755558916
NM_001232.4(CASQ2):c.606G>A (p.Gly202=) rs1647836874
NM_001232.4(CASQ2):c.646T>G (p.Phe216Val)
NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg)
NM_001232.4(CASQ2):c.650A>T (p.Tyr217Phe) rs373227317
NM_001232.4(CASQ2):c.683C>G (p.Pro228Arg) rs2101079136
NM_001232.4(CASQ2):c.687C>G (p.Asn229Lys) rs2101079130
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser) rs749796276
NM_001232.4(CASQ2):c.737+14C>T
NM_001232.4(CASQ2):c.740C>G (p.Pro247Arg) rs768261470
NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu) rs187306418
NM_001232.4(CASQ2):c.758G>C (p.Arg253Pro) rs199571249
NM_001232.4(CASQ2):c.758G>T (p.Arg253Leu) rs199571249
NM_001232.4(CASQ2):c.783+3A>G rs876657751
NM_001232.4(CASQ2):c.808A>T (p.Ile270Phe)
NM_001232.4(CASQ2):c.809T>C (p.Ile270Thr) rs762381137
NM_001232.4(CASQ2):c.835C>A (p.Pro279Thr) rs769435706
NM_001232.4(CASQ2):c.837A>G (p.Pro279=) rs1647217312
NM_001232.4(CASQ2):c.837A>T (p.Pro279=) rs1647217312
NM_001232.4(CASQ2):c.860T>G (p.Ile287Ser) rs368165922
NM_001232.4(CASQ2):c.865A>G (p.Lys289Glu)
NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro) rs377691566
NM_001232.4(CASQ2):c.894C>A (p.Asn298Lys) rs923161859
NM_001232.4(CASQ2):c.896C>G (p.Pro299Arg) rs974622106
NM_001232.4(CASQ2):c.898_900dup (p.Asp300dup) rs1557785041
NM_001232.4(CASQ2):c.905G>C (p.Ser302Thr) rs979113189
NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu) rs769960615
NM_001232.4(CASQ2):c.937C>G (p.Leu313Val) rs1654321088
NM_001232.4(CASQ2):c.939+3G>A
NM_001232.4(CASQ2):c.959A>C (p.Lys320Thr) rs1654255083
NM_001232.4(CASQ2):c.981C>A (p.Phe327Leu) rs2101053786
NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)
NM_001232.4(CASQ2):c.98G>T (p.Arg33Leu) rs749547712
NM_001407276.1(TMEM43):c.883-2_883del
NM_001943.5(DSG2):c.1006C>T (p.Leu336Phe) rs1060502864
NM_001943.5(DSG2):c.1013A>G (p.Lys338Arg)
NM_001943.5(DSG2):c.1015G>A (p.Glu339Lys)
NM_001943.5(DSG2):c.1018G>T (p.Val340Leu) rs1369312425
NM_001943.5(DSG2):c.1034T>A (p.Met345Lys) rs2144332528
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1063G>T (p.Ala355Ser) rs201046640
NM_001943.5(DSG2):c.1066A>C (p.Asn356His)
NM_001943.5(DSG2):c.1088C>T (p.Ser363Leu) rs751527714
NM_001943.5(DSG2):c.1090A>G (p.Ile364Val) rs780014639
NM_001943.5(DSG2):c.1098T>G (p.Ser366Arg)
NM_001943.5(DSG2):c.10A>C (p.Ser4Arg)
NM_001943.5(DSG2):c.10A>G (p.Ser4Gly) rs1415117974
NM_001943.5(DSG2):c.1100A>G (p.Lys367Arg) rs1057518504
NM_001943.5(DSG2):c.1101A>G (p.Lys367=)
NM_001943.5(DSG2):c.1128G>T (p.Lys376Asn) rs760119108
NM_001943.5(DSG2):c.1129G>A (p.Val377Ile)
NM_001943.5(DSG2):c.1130T>A (p.Val377Asp) rs794728085
NM_001943.5(DSG2):c.1132A>C (p.Lys378Gln)
NM_001943.5(DSG2):c.1132A>G (p.Lys378Glu)
NM_001943.5(DSG2):c.1154G>A (p.Gly385Asp) rs727504748
NM_001943.5(DSG2):c.1166A>T (p.Lys389Ile)
NM_001943.5(DSG2):c.1173C>A (p.Ser391Arg) rs763242004
NM_001943.5(DSG2):c.1205A>G (p.Asp402Gly)
NM_001943.5(DSG2):c.1219G>A (p.Gly407Ser)
NM_001943.5(DSG2):c.1220G>C (p.Gly407Ala)
NM_001943.5(DSG2):c.1229T>C (p.Ile410Thr)
NM_001943.5(DSG2):c.1252G>A (p.Glu418Lys)
NM_001943.5(DSG2):c.1255G>A (p.Asp419Asn)
NM_001943.5(DSG2):c.1256A>G (p.Asp419Gly) rs760135423
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val) rs760135423
NM_001943.5(DSG2):c.125C>T (p.Pro42Leu)
NM_001943.5(DSG2):c.1274A>C (p.His425Pro) rs746180213
NM_001943.5(DSG2):c.1274A>G (p.His425Arg) rs746180213
NM_001943.5(DSG2):c.1277C>T (p.Ala426Val) rs1555627137
NM_001943.5(DSG2):c.127C>T (p.His43Tyr)
NM_001943.5(DSG2):c.1297G>A (p.Asp433Asn) rs938919152
NM_001943.5(DSG2):c.1297G>T (p.Asp433Tyr) rs938919152
NM_001943.5(DSG2):c.130T>G (p.Leu44Val)
NM_001943.5(DSG2):c.1316C>G (p.Ser439Cys) rs2073222283
NM_001943.5(DSG2):c.1342A>G (p.Lys448Glu) rs2073222488
NM_001943.5(DSG2):c.1349C>T (p.Ala450Val)
NM_001943.5(DSG2):c.1355T>G (p.Leu452Arg) rs763810935
NM_001943.5(DSG2):c.1359T>G (p.Pro453=)
NM_001943.5(DSG2):c.1361_1387del (p.Asp454_Asn462del) rs2073222763
NM_001943.5(DSG2):c.1368A>G (p.Glu456=)
NM_001943.5(DSG2):c.1373G>T (p.Arg458Ile) rs2144339865
NM_001943.5(DSG2):c.1374_1388del (p.Arg458_Gly463delinsSer) rs2073222954
NM_001943.5(DSG2):c.1397C>G (p.Thr466Ser) rs769137357
NM_001943.5(DSG2):c.1399G>A (p.Val467Ile) rs727504533
NM_001943.5(DSG2):c.13C>G (p.Pro5Ala)
NM_001943.5(DSG2):c.1409T>C (p.Val470Ala)
NM_001943.5(DSG2):c.1411G>A (p.Ala471Thr)
NM_001943.5(DSG2):c.1423+5del
NM_001943.5(DSG2):c.1423G>C (p.Asp475His)
NM_001943.5(DSG2):c.1423G>T (p.Asp475Tyr)
NM_001943.5(DSG2):c.1429C>A (p.Pro477Thr)
NM_001943.5(DSG2):c.1435A>G (p.Lys479Glu) rs779432999
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser) rs886053714
NM_001943.5(DSG2):c.1448G>A (p.Gly483Asp) rs2144341363
NM_001943.5(DSG2):c.145C>A (p.Arg49Ser) rs762526848
NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr) rs776525113
NM_001943.5(DSG2):c.1463A>G (p.Asn488Ser) rs794728078
NM_001943.5(DSG2):c.1477A>G (p.Asn493Asp) rs2144341490
NM_001943.5(DSG2):c.1477_1479del (p.Asn493del) rs2073229597
NM_001943.5(DSG2):c.1482C>G (p.Asp494Glu)
NM_001943.5(DSG2):c.1487G>A (p.Cys496Tyr) rs1346150383
NM_001943.5(DSG2):c.1489C>G (p.Pro497Ala)
NM_001943.5(DSG2):c.148G>C (p.Ala50Pro)
NM_001943.5(DSG2):c.148G>T (p.Ala50Ser) rs1267795586
NM_001943.5(DSG2):c.1499T>G (p.Ile500Arg) rs769741655
NM_001943.5(DSG2):c.14C>T (p.Pro5Leu) rs530517936
NM_001943.5(DSG2):c.1501G>C (p.Glu501Gln) rs1567930737
NM_001943.5(DSG2):c.151T>C (p.Trp51Arg) rs1064794367
NM_001943.5(DSG2):c.1524C>A (p.His508Gln) rs560004953
NM_001943.5(DSG2):c.1527T>A (p.Asp509Glu)
NM_001943.5(DSG2):c.152G>T (p.Trp51Leu) rs397516702
NM_001943.5(DSG2):c.1532A>G (p.Glu511Gly) rs1416039056
NM_001943.5(DSG2):c.1533G>C (p.Glu511Asp)
NM_001943.5(DSG2):c.1540A>G (p.Asn514Asp) rs1598819735
NM_001943.5(DSG2):c.1541A>C (p.Asn514Thr)
NM_001943.5(DSG2):c.1541A>T (p.Asn514Ile) rs986617814
NM_001943.5(DSG2):c.1543G>T (p.Val515Phe)
NM_001943.5(DSG2):c.1549G>A (p.Ala517Thr)
NM_001943.5(DSG2):c.1549G>T (p.Ala517Ser) rs1299327345
NM_001943.5(DSG2):c.154A>T (p.Ile52Phe)
NM_001943.5(DSG2):c.1555G>C (p.Asp519His) rs778119035
NM_001943.5(DSG2):c.1561G>A (p.Asp521Asn) rs2144341791
NM_001943.5(DSG2):c.1569C>G (p.His523Gln)
NM_001943.5(DSG2):c.1577G>A (p.Ser526Asn) rs771083574
NM_001943.5(DSG2):c.158C>G (p.Thr53Ser) rs1456845187
NM_001943.5(DSG2):c.1601T>C (p.Ile534Thr) rs2144341885
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu) rs368718022
NM_001943.5(DSG2):c.1610C>A (p.Pro537Gln) rs1598819817
NM_001943.5(DSG2):c.1613C>T (p.Pro538Leu)
NM_001943.5(DSG2):c.1618A>G (p.Met540Val)
NM_001943.5(DSG2):c.1630T>G (p.Trp544Gly)
NM_001943.5(DSG2):c.1639G>A (p.Ala547Thr)
NM_001943.5(DSG2):c.1642C>G (p.Arg548Gly)
NM_001943.5(DSG2):c.1643G>T (p.Arg548Leu) rs551034751
NM_001943.5(DSG2):c.1649A>G (p.Glu550Gly) rs2144342065
NM_001943.5(DSG2):c.1651A>G (p.Ser551Gly)
NM_001943.5(DSG2):c.1652-2dup
NM_001943.5(DSG2):c.1658G>T (p.Ser553Ile) rs1567931587
NM_001943.5(DSG2):c.1670A>G (p.Gln557Arg)
NM_001943.5(DSG2):c.1674A>C (p.Gln558His) rs1019401099
NM_001943.5(DSG2):c.1676G>A (p.Ser559Asn)
NM_001943.5(DSG2):c.1676G>C (p.Ser559Thr) rs1254841751
NM_001943.5(DSG2):c.1680G>T (p.Glu560Asp) rs2073247614
NM_001943.5(DSG2):c.1688T>C (p.Leu563Pro)
NM_001943.5(DSG2):c.1696A>C (p.Ser566Arg) rs2144346505
NM_001943.5(DSG2):c.1698T>A (p.Ser566Arg)
NM_001943.5(DSG2):c.1707G>C (p.Gln569His) rs370097438
NM_001943.5(DSG2):c.170C>T (p.Ala57Val) rs756635006
NM_001943.5(DSG2):c.1722C>A (p.Asp574Glu) rs2073247879
NM_001943.5(DSG2):c.1729G>C (p.Gly577Arg)
NM_001943.5(DSG2):c.172C>G (p.Leu58Val) rs780300040
NM_001943.5(DSG2):c.172C>T (p.Leu58Phe)
NM_001943.5(DSG2):c.1730G>C (p.Gly577Ala) rs1567931644
NM_001943.5(DSG2):c.1744G>A (p.Glu582Lys)
NM_001943.5(DSG2):c.1752_1784del (p.Gln584_Leu594del) rs1333431543
NM_001943.5(DSG2):c.1760C>A (p.Thr587Lys)
NM_001943.5(DSG2):c.1762C>G (p.Leu588Val) rs1278145047
NM_001943.5(DSG2):c.1768G>A (p.Val590Ile)
NM_001943.5(DSG2):c.1768G>C (p.Val590Leu) rs2073248446
NM_001943.5(DSG2):c.1786G>A (p.Gly596Ser)
NM_001943.5(DSG2):c.1791C>A (p.Ser597Arg)
NM_001943.5(DSG2):c.1793G>C (p.Gly598Ala) rs1598821488
NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg) rs762413624
NM_001943.5(DSG2):c.1796G>T (p.Cys599Phe)
NM_001943.5(DSG2):c.1801G>A (p.Glu601Lys) rs1598821506
NM_001943.5(DSG2):c.1811A>G (p.His604Arg) rs1359949181
NM_001943.5(DSG2):c.1820A>T (p.Tyr607Phe) rs766843045
NM_001943.5(DSG2):c.1825G>C (p.Gly609Arg) rs2144346907
NM_001943.5(DSG2):c.1846G>A (p.Ala616Thr)
NM_001943.5(DSG2):c.1878A>T (p.Leu626=)
NM_001943.5(DSG2):c.1880-17A>G rs1295022734
NM_001943.5(DSG2):c.1881G>A (p.Leu627=)
NM_001943.5(DSG2):c.188A>T (p.Asp63Val)
NM_001943.5(DSG2):c.1933A>T (p.Thr645Ser) rs1229669407
NM_001943.5(DSG2):c.1952T>C (p.Ile651Thr) rs766353242
NM_001943.5(DSG2):c.1952T>G (p.Ile651Arg) rs766353242
NM_001943.5(DSG2):c.1959G>A (p.Met653Ile) rs794728088
NM_001943.5(DSG2):c.1964A>T (p.His655Leu)
NM_001943.5(DSG2):c.196A>C (p.Lys66Gln)
NM_001943.5(DSG2):c.1973A>C (p.Asn658Thr)
NM_001943.5(DSG2):c.1988C>T (p.Pro663Leu) rs893262083
NM_001943.5(DSG2):c.2000A>G (p.Lys667Arg) rs2144350910
NM_001943.5(DSG2):c.2001+3C>T
NM_001943.5(DSG2):c.2006T>A (p.Val669Glu) rs1036247495
NM_001943.5(DSG2):c.2009CAT[3] (p.Ser671_Phe672insSer)
NM_001943.5(DSG2):c.200A>G (p.Lys67Arg)
NM_001943.5(DSG2):c.2014T>C (p.Phe672Leu) rs2144352923
NM_001943.5(DSG2):c.2020C>T (p.Pro674Ser) rs2144352935
NM_001943.5(DSG2):c.2033G>T (p.Gly678Val)
NM_001943.5(DSG2):c.2047G>C (p.Gly683Arg)
NM_001943.5(DSG2):c.2050A>G (p.Arg684Gly)
NM_001943.5(DSG2):c.2063G>A (p.Gly688Glu)
NM_001943.5(DSG2):c.2065G>C (p.Gly689Arg)
NM_001943.5(DSG2):c.2075A>C (p.Lys692Thr)
NM_001943.5(DSG2):c.2077G>A (p.Glu693Lys) rs2144353065
NM_001943.5(DSG2):c.2081C>G (p.Ala694Gly)
NM_001943.5(DSG2):c.2088G>A (p.Met696Ile) rs1598823943
NM_001943.5(DSG2):c.2098A>G (p.Ser700Gly)
NM_001943.5(DSG2):c.20G>C (p.Arg7Pro)
NM_001943.5(DSG2):c.2104G>A (p.Ala702Thr) rs2144353139
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met) rs794728081
NM_001943.5(DSG2):c.2124A>T (p.Gln708His)
NM_001943.5(DSG2):c.2134_2142del (p.Ser712_Met714del) rs778319427
NM_001943.5(DSG2):c.2139G>C (p.Glu713Asp)
NM_001943.5(DSG2):c.2143G>T (p.Asp715Tyr) rs2073276150
NM_001943.5(DSG2):c.214A>G (p.Lys72Glu)
NM_001943.5(DSG2):c.216+3A>G rs774208829
NM_001943.5(DSG2):c.2166A>T (p.Arg722Ser) rs2073276336
NM_001943.5(DSG2):c.217-7dup
NM_001943.5(DSG2):c.2174T>C (p.Leu725Pro) rs960047010
NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala) rs780650226
NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu) rs772240008
NM_001943.5(DSG2):c.2215A>T (p.Ile739Phe) rs772240008
NM_001943.5(DSG2):c.2222C>T (p.Thr741Ile)
NM_001943.5(DSG2):c.2242G>A (p.Ala748Thr) rs763994831
NM_001943.5(DSG2):c.2242G>T (p.Ala748Ser) rs763994831
NM_001943.5(DSG2):c.2263A>G (p.Arg755Gly) rs2144353569
NM_001943.5(DSG2):c.2270T>C (p.Met757Thr) rs876657792
NM_001943.5(DSG2):c.2272G>A (p.Ala758Thr)
NM_001943.5(DSG2):c.2276G>C (p.Gly759Ala) rs2073277829
NM_001943.5(DSG2):c.2284G>A (p.Ala762Thr) rs2144353655
NM_001943.5(DSG2):c.2285C>A (p.Ala762Glu)
NM_001943.5(DSG2):c.2296G>A (p.Ala766Thr)
NM_001943.5(DSG2):c.2303A>C (p.Asn768Thr)
NM_001943.5(DSG2):c.2308G>A (p.Glu770Lys)
NM_001943.5(DSG2):c.2327T>C (p.Phe776Ser) rs2144353836
NM_001943.5(DSG2):c.2334+2dup
NM_001943.5(DSG2):c.2353G>A (p.Glu785Lys)
NM_001943.5(DSG2):c.235G>A (p.Glu79Lys)
NM_001943.5(DSG2):c.2366A>C (p.Asn789Thr) rs2073300346
NM_001943.5(DSG2):c.2366A>G (p.Asn789Ser) rs2073300346
NM_001943.5(DSG2):c.2377A>G (p.Lys793Glu) rs2073300770
NM_001943.5(DSG2):c.238G>A (p.Glu80Lys) rs2073123125
NM_001943.5(DSG2):c.2411C>G (p.Thr804Ser)
NM_001943.5(DSG2):c.2428T>A (p.Ser810Thr) rs1555628166
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2443A>C (p.Ser815Arg) rs1227447609
NM_001943.5(DSG2):c.2444G>A (p.Ser815Asn) rs2144358945
NM_001943.5(DSG2):c.2447T>A (p.Phe816Tyr) rs1284559802
NM_001943.5(DSG2):c.2459A>G (p.Glu820Gly)
NM_001943.5(DSG2):c.245G>A (p.Gly82Glu) rs756081987
NM_001943.5(DSG2):c.245G>T (p.Gly82Val) rs756081987
NM_001943.5(DSG2):c.2479G>C (p.Asp827His)
NM_001943.5(DSG2):c.2485T>A (p.Leu829Met) rs968817397
NM_001943.5(DSG2):c.2492T>C (p.Leu831Pro)
NM_001943.5(DSG2):c.2504_2505inv (p.Thr835Met)
NM_001943.5(DSG2):c.2507T>C (p.Leu836Pro) rs1425278506
NM_001943.5(DSG2):c.251A>G (p.Lys84Arg)
NM_001943.5(DSG2):c.2536G>T (p.Asp846Tyr) rs1226243364
NM_001943.5(DSG2):c.254T>C (p.Ile85Thr)
NM_001943.5(DSG2):c.2562A>T (p.Arg854Ser) rs1482979438
NM_001943.5(DSG2):c.2572G>T (p.Ala858Ser) rs748800693
NM_001943.5(DSG2):c.2576C>T (p.Thr859Ile) rs1445054250
NM_001943.5(DSG2):c.2581A>G (p.Thr861Ala) rs1598826621
NM_001943.5(DSG2):c.2585G>C (p.Ser862Thr) rs1598826629
NM_001943.5(DSG2):c.2593A>C (p.Thr865Pro) rs866344768
NM_001943.5(DSG2):c.2616G>T (p.Glu872Asp)
NM_001943.5(DSG2):c.2639_2641del (p.Asn880del)
NM_001943.5(DSG2):c.2645A>C (p.Tyr882Ser) rs1555628211
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del) rs794728095
NM_001943.5(DSG2):c.2654G>A (p.Gly885Asp)
NM_001943.5(DSG2):c.2657G>A (p.Ser886Asn) rs1454240099
NM_001943.5(DSG2):c.2669T>G (p.Val890Gly)
NM_001943.5(DSG2):c.2699A>G (p.Glu900Gly)
NM_001943.5(DSG2):c.26A>T (p.Tyr9Phe) rs2144276572
NM_001943.5(DSG2):c.2700G>T (p.Glu900Asp) rs1396387126
NM_001943.5(DSG2):c.2720T>G (p.Val907Gly) rs2073306318
NM_001943.5(DSG2):c.2727A>C (p.Glu909Asp) rs771675609
NM_001943.5(DSG2):c.2731T>C (p.Ser911Pro)
NM_001943.5(DSG2):c.2737T>C (p.Ser913Pro)
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile) rs547741894
NM_001943.5(DSG2):c.2758G>C (p.Val920Leu) rs547741894
NM_001943.5(DSG2):c.276A>C (p.Lys92Asn) rs2144315629
NM_001943.5(DSG2):c.278G>A (p.Gly93Glu)
NM_001943.5(DSG2):c.2797G>T (p.Val933Leu) rs373055076
NM_001943.5(DSG2):c.2800A>G (p.Ile934Val) rs1469730786
NM_001943.5(DSG2):c.2803G>A (p.Ala935Thr)
NM_001943.5(DSG2):c.2825C>T (p.Thr942Ile) rs771429752
NM_001943.5(DSG2):c.2830T>C (p.Ser944Pro) rs1183510455
NM_001943.5(DSG2):c.2831C>G (p.Ser944Cys)
NM_001943.5(DSG2):c.2836A>C (p.Met946Leu)
NM_001943.5(DSG2):c.283A>G (p.Thr95Ala)
NM_001943.5(DSG2):c.2840C>T (p.Pro947Leu) rs2144360381
NM_001943.5(DSG2):c.2860G>T (p.Gly954Cys)
NM_001943.5(DSG2):c.2861G>A (p.Gly954Asp) rs1397270448
NM_001943.5(DSG2):c.2881C>T (p.Leu961Phe)
NM_001943.5(DSG2):c.2887G>T (p.Val963Leu)
NM_001943.5(DSG2):c.2893G>A (p.Glu965Lys) rs1326783146
NM_001943.5(DSG2):c.2908C>G (p.Pro970Ala)
NM_001943.5(DSG2):c.2914T>C (p.Ser972Pro)
NM_001943.5(DSG2):c.2914T>G (p.Ser972Ala) rs2073308983
NM_001943.5(DSG2):c.292C>T (p.Pro98Ser) rs2073123674
NM_001943.5(DSG2):c.2933C>G (p.Pro978Arg)
NM_001943.5(DSG2):c.2944G>A (p.Glu982Lys) rs781744343
NM_001943.5(DSG2):c.2951C>G (p.Thr984Arg)
NM_001943.5(DSG2):c.2965G>C (p.Glu989Gln)
NM_001943.5(DSG2):c.2974A>G (p.Ile992Val) rs933743259
NM_001943.5(DSG2):c.2980C>T (p.Pro994Ser)
NM_001943.5(DSG2):c.2989G>T (p.Gly997Cys) rs1203880394
NM_001943.5(DSG2):c.2990G>A (p.Gly997Asp) rs1245395139
NM_001943.5(DSG2):c.299G>T (p.Gly100Val) rs1236559318
NM_001943.5(DSG2):c.3013A>C (p.Thr1005Pro)
NM_001943.5(DSG2):c.3018G>C (p.Gln1006His)
NM_001943.5(DSG2):c.301A>G (p.Ile101Val)
NM_001943.5(DSG2):c.3037T>C (p.Tyr1013His)
NM_001943.5(DSG2):c.3038A>C (p.Tyr1013Ser)
NM_001943.5(DSG2):c.3046G>A (p.Val1016Met) rs2073311048
NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr) rs2073123855
NM_001943.5(DSG2):c.3060G>T (p.Glu1020Asp)
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.3077G>A (p.Ser1026Asn)
NM_001943.5(DSG2):c.3091C>T (p.Pro1031Ser) rs2144361340
NM_001943.5(DSG2):c.3100G>T (p.Ala1034Ser) rs2144361362
NM_001943.5(DSG2):c.3116C>T (p.Ala1039Val)
NM_001943.5(DSG2):c.3123dup (p.Gln1042fs)
NM_001943.5(DSG2):c.3136G>A (p.Val1046Met)
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg) rs397516707
NM_001943.5(DSG2):c.3142_3143del (p.Glu1048fs)
NM_001943.5(DSG2):c.3143_3160dup (p.Glu1048_Pro1053dup) rs1319078257
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs) rs758822081
NM_001943.5(DSG2):c.3146G>T (p.Arg1049Ile)
NM_001943.5(DSG2):c.3151C>A (p.Leu1051Ile)
NM_001943.5(DSG2):c.3158C>G (p.Pro1053Arg)
NM_001943.5(DSG2):c.3160G>C (p.Ala1054Pro)
NM_001943.5(DSG2):c.3165dup (p.Thr1056fs) rs2073312554
NM_001943.5(DSG2):c.3185del (p.Gln1062fs) rs2144361650
NM_001943.5(DSG2):c.31C>G (p.Leu11Val)
NM_001943.5(DSG2):c.3213dup (p.Arg1072Ter)
NM_001943.5(DSG2):c.3226G>T (p.Val1076Leu) rs761545577
NM_001943.5(DSG2):c.3227T>C (p.Val1076Ala)
NM_001943.5(DSG2):c.3233G>C (p.Gly1078Ala) rs1064795829
NM_001943.5(DSG2):c.3257C>T (p.Pro1086Leu)
NM_001943.5(DSG2):c.325G>A (p.Gly109Arg)
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) rs200264407
NM_001943.5(DSG2):c.3280G>C (p.Gly1094Arg) rs2073313909
NM_001943.5(DSG2):c.3281G>A (p.Gly1094Asp) rs144313973
NM_001943.5(DSG2):c.3295A>T (p.Thr1099Ser) rs79068489
NM_001943.5(DSG2):c.32T>G (p.Leu11Arg) rs2144276606
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala) rs778884735
NM_001943.5(DSG2):c.3308C>G (p.Ser1103Cys) rs2073314462
NM_001943.5(DSG2):c.3312del (p.Thr1105fs) rs1413344418
NM_001943.5(DSG2):c.3329A>C (p.His1110Pro)
NM_001943.5(DSG2):c.3331A>T (p.Ser1111Cys)
NM_001943.5(DSG2):c.3337G>C (p.Val1113Leu) rs924943447
NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter) rs776078563
NM_001943.5(DSG2):c.3350A>T (p.Tyr1117Phe)
NM_001943.5(DSG2):c.3357A>T (p.Ter1119Tyr) rs2144362223
NM_001943.5(DSG2):c.335A>G (p.Asn112Ser) rs2144315760
NM_001943.5(DSG2):c.344G>A (p.Ser115Asn) rs2073124006
NM_001943.5(DSG2):c.349C>A (p.Leu117Ile)
NM_001943.5(DSG2):c.367C>T (p.Pro123Ser) rs2073124113
NM_001943.5(DSG2):c.368C>T (p.Pro123Leu)
NM_001943.5(DSG2):c.37C>T (p.Leu13Phe) rs1276147010
NM_001943.5(DSG2):c.385G>T (p.Gly129Cys) rs2073125035
NM_001943.5(DSG2):c.391G>T (p.Ala131Ser) rs373542380
NM_001943.5(DSG2):c.399T>G (p.Asp133Glu) rs2073125147
NM_001943.5(DSG2):c.424C>A (p.Pro142Thr) rs1005230453
NM_001943.5(DSG2):c.42_44del (p.Leu15del) rs2072994567
NM_001943.5(DSG2):c.436C>T (p.Arg146Cys)
NM_001943.5(DSG2):c.437G>A (p.Arg146His) rs113451409
NM_001943.5(DSG2):c.439A>G (p.Ile147Val) rs1316807839
NM_001943.5(DSG2):c.442_450del (p.Lys148_Leu150del) rs2073125611
NM_001943.5(DSG2):c.45+5G>C rs1423214260
NM_001943.5(DSG2):c.45+6T>C rs2072994676
NM_001943.5(DSG2):c.451G>A (p.Asp151Asn) rs1598810722
NM_001943.5(DSG2):c.46-14A>G
NM_001943.5(DSG2):c.462C>A (p.Asp154Glu) rs2073125869
NM_001943.5(DSG2):c.462C>G (p.Asp154Glu)
NM_001943.5(DSG2):c.464A>G (p.Asn155Ser)
NM_001943.5(DSG2):c.478A>G (p.Thr160Ala) rs2073126133
NM_001943.5(DSG2):c.488T>C (p.Val163Ala)
NM_001943.5(DSG2):c.493G>A (p.Val165Ile)
NM_001943.5(DSG2):c.493G>T (p.Val165Phe)
NM_001943.5(DSG2):c.494T>C (p.Val165Ala)
NM_001943.5(DSG2):c.505G>A (p.Glu169Lys)
NM_001943.5(DSG2):c.515G>T (p.Ser172Ile)
NM_001943.5(DSG2):c.523+4A>G
NM_001943.5(DSG2):c.530T>C (p.Leu177Pro)
NM_001943.5(DSG2):c.534G>T (p.Val178=)
NM_001943.5(DSG2):c.550A>G (p.Thr184Ala) rs2073131261
NM_001943.5(DSG2):c.551C>T (p.Thr184Ile) rs372605499
NM_001943.5(DSG2):c.564_565delinsAA (p.Pro189Thr)
NM_001943.5(DSG2):c.572C>G (p.Thr191Ser) rs1555671315
NM_001943.5(DSG2):c.586A>G (p.Ile196Val) rs1422826393
NM_001943.5(DSG2):c.590C>G (p.Ser197Cys)
NM_001943.5(DSG2):c.601G>A (p.Val201Ile) rs184100321
NM_001943.5(DSG2):c.650C>T (p.Thr217Ile) rs776720174
NM_001943.5(DSG2):c.670A>G (p.Ser224Gly) rs1060502863
NM_001943.5(DSG2):c.677C>G (p.Thr226Ser)
NM_001943.5(DSG2):c.680T>C (p.Leu227Ser)
NM_001943.5(DSG2):c.691-5T>A
NM_001943.5(DSG2):c.697A>G (p.Ser233Gly) rs2073148481
NM_001943.5(DSG2):c.719A>C (p.Glu240Ala) rs2073148766
NM_001943.5(DSG2):c.721G>C (p.Ala241Pro)
NM_001943.5(DSG2):c.734A>G (p.Asn245Ser) rs1568106586
NM_001943.5(DSG2):c.748G>C (p.Asp250His)
NM_001943.5(DSG2):c.748G>T (p.Asp250Tyr) rs1459918321
NM_001943.5(DSG2):c.756T>G (p.Pro252=)
NM_001943.5(DSG2):c.772G>T (p.Val258Phe) rs1060502865
NM_001943.5(DSG2):c.784A>G (p.Ile262Val) rs2073149359
NM_001943.5(DSG2):c.794T>A (p.Val265Asp)
NM_001943.5(DSG2):c.7C>G (p.Arg3Gly)
NM_001943.5(DSG2):c.800A>G (p.Asp267Gly)
NM_001943.5(DSG2):c.803A>T (p.Asn268Ile) rs942590973
NM_001943.5(DSG2):c.81+16_81+17delinsTG rs2144311694
NM_001943.5(DSG2):c.81+5_81+6del
NM_001943.5(DSG2):c.812_813insCAT (p.Val271_Val272insIle)
NM_001943.5(DSG2):c.818A>C (p.Glu273Ala)
NM_001943.5(DSG2):c.81G>A (p.Gln27=) rs2144311636
NM_001943.5(DSG2):c.82-13T>G
NM_001943.5(DSG2):c.828_828+2del rs786204292
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093
NM_001943.5(DSG2):c.838A>G (p.Met280Val)
NM_001943.5(DSG2):c.839T>C (p.Met280Thr) rs1002445324
NM_001943.5(DSG2):c.844GAA[1] (p.Glu283del) rs1365781004
NM_001943.5(DSG2):c.856G>A (p.Val286Ile) rs1568106749
NM_001943.5(DSG2):c.861_862delinsTC (p.Val288Leu) rs2144322697
NM_001943.5(DSG2):c.863T>G (p.Val288Gly)
NM_001943.5(DSG2):c.869T>G (p.Val290Gly) rs2144322727
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu) rs2230234
NM_001943.5(DSG2):c.87A>T (p.Leu29Phe)
NM_001943.5(DSG2):c.881A>T (p.Lys294Ile) rs1168649465
NM_001943.5(DSG2):c.890A>T (p.Asp297Val) rs1418275138
NM_001943.5(DSG2):c.893_898del (p.Ala298_Asp299del) rs1331118515
NM_001943.5(DSG2):c.904G>A (p.Gly302Ser) rs1402723514
NM_001943.5(DSG2):c.905G>A (p.Gly302Asp) rs1338174918
NM_001943.5(DSG2):c.914A>G (p.Asn305Ser) rs2073152820
NM_001943.5(DSG2):c.916T>C (p.Trp306Arg)
NM_001943.5(DSG2):c.920T>G (p.Leu307Arg)
NM_001943.5(DSG2):c.934T>C (p.Phe312Leu)
NM_001943.5(DSG2):c.955G>A (p.Gly319Ser) rs1064796086
NM_001943.5(DSG2):c.95G>A (p.Arg32Lys)
NM_001943.5(DSG2):c.967A>G (p.Ile323Val) rs886039096
NM_001943.5(DSG2):c.968T>C (p.Ile323Thr)
NM_001943.5(DSG2):c.972A>C (p.Glu324Asp)
NM_001943.5(DSG2):c.983A>C (p.Gln328Pro)
NM_001943.5(DSG2):c.983A>G (p.Gln328Arg)
NM_001943.5(DSG2):c.988A>G (p.Asn330Asp) rs1410479706
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205
NM_001943.5(DSG2):c.994G>A (p.Gly332Arg)
NM_002230.3(JUP):c.910_912dup (p.Leu304_Ile305insLeu) rs1567812900
NM_002230.4(JUP):c.1000G>A (p.Val334Met)
NM_002230.4(JUP):c.1013T>C (p.Leu338Pro) rs2143598327
NM_002230.4(JUP):c.1022G>A (p.Cys341Tyr) rs1567812537
NM_002230.4(JUP):c.1028G>A (p.Ser343Asn) rs1597808088
NM_002230.4(JUP):c.1036C>T (p.Pro346Ser)
NM_002230.4(JUP):c.1040C>T (p.Ala347Val) rs1915466603
NM_002230.4(JUP):c.1046T>C (p.Val349Ala)
NM_002230.4(JUP):c.1049A>G (p.Glu350Gly) rs1915464336
NM_002230.4(JUP):c.1054+3G>A
NM_002230.4(JUP):c.1055-3C>G rs1597807473
NM_002230.4(JUP):c.1057G>A (p.Gly353Arg)
NM_002230.4(JUP):c.1072G>C (p.Gly358Arg) rs1915435636
NM_002230.4(JUP):c.1082T>C (p.Leu361Pro) rs2143593694
NM_002230.4(JUP):c.1085C>T (p.Thr362Ile) rs1915432778
NM_002230.4(JUP):c.1088G>T (p.Ser363Ile) rs2143593479
NM_002230.4(JUP):c.1096C>T (p.Pro366Ser)
NM_002230.4(JUP):c.1097C>T (p.Pro366Leu)
NM_002230.4(JUP):c.1099C>T (p.Arg367Cys)
NM_002230.4(JUP):c.1100G>A (p.Arg367His) rs782067441
NM_002230.4(JUP):c.1129C>T (p.Arg377Cys) rs368564000
NM_002230.4(JUP):c.1139C>T (p.Ser380Leu)
NM_002230.4(JUP):c.113GCA[1] (p.Ser39del) rs113994176
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup) rs113994176
NM_002230.4(JUP):c.114C>A (p.Ser38Arg) rs782391511
NM_002230.4(JUP):c.1163G>A (p.Gly388Asp) rs1555602470
NM_002230.4(JUP):c.1193A>G (p.Asn398Ser)
NM_002230.4(JUP):c.1207G>T (p.Asp403Tyr)
NM_002230.4(JUP):c.1212C>A (p.Asp404Glu) rs1482026041
NM_002230.4(JUP):c.1218C>A (p.Asn406Lys)
NM_002230.4(JUP):c.121G>A (p.Gly41Ser)
NM_002230.4(JUP):c.122G>A (p.Gly41Asp)
NM_002230.4(JUP):c.1232C>T (p.Ala411Val) rs1060502680
NM_002230.4(JUP):c.1241C>T (p.Thr414Ile)
NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)
NM_002230.4(JUP):c.1268G>A (p.Ser423Asn)
NM_002230.4(JUP):c.127A>G (p.Met43Val) rs1916678676
NM_002230.4(JUP):c.1283T>C (p.Leu428Pro)
NM_002230.4(JUP):c.129G>A (p.Met43Ile) rs1555606996
NM_002230.4(JUP):c.1301G>A (p.Gly434Asp)
NM_002230.4(JUP):c.1306G>A (p.Glu436Lys) rs1915172914
NM_002230.4(JUP):c.1312C>G (p.Leu438Val)
NM_002230.4(JUP):c.1318C>T (p.His440Tyr) rs1555602228
NM_002230.4(JUP):c.1320T>A (p.His440Gln)
NM_002230.4(JUP):c.1322C>A (p.Ala441Asp)
NM_002230.4(JUP):c.1339G>A (p.Asp447Asn) rs1915164389
NM_002230.4(JUP):c.133G>A (p.Glu45Lys)
NM_002230.4(JUP):c.1346A>G (p.Asp449Gly)
NM_002230.4(JUP):c.1346A>T (p.Asp449Val) rs1174382765
NM_002230.4(JUP):c.1348G>A (p.Asp450Asn)
NM_002230.4(JUP):c.1351A>G (p.Ile451Val)
NM_002230.4(JUP):c.135G>C (p.Glu45Asp) rs2143735253
NM_002230.4(JUP):c.1360C>T (p.Pro454Ser)
NM_002230.4(JUP):c.136G>T (p.Asp46Tyr)
NM_002230.4(JUP):c.1384C>T (p.Leu462Phe)
NM_002230.4(JUP):c.1393C>T (p.Arg465Cys)
NM_002230.4(JUP):c.1398C>A (p.His466Gln) rs1555602097
NM_002230.4(JUP):c.1410G>C (p.Glu470Asp) rs2143559758
NM_002230.4(JUP):c.1429C>T (p.Arg477Cys)
NM_002230.4(JUP):c.142G>C (p.Ala48Pro)
NM_002230.4(JUP):c.1432C>T (p.Leu478Phe)
NM_002230.4(JUP):c.143C>A (p.Ala48Asp) rs2143735114
NM_002230.4(JUP):c.1442G>T (p.Gly481Val)
NM_002230.4(JUP):c.1455C>G (p.Ile485Met)
NM_002230.4(JUP):c.1469A>G (p.Asn490Ser)
NM_002230.4(JUP):c.1470C>G (p.Asn490Lys)
NM_002230.4(JUP):c.1481A>G (p.Gln494Arg) rs2143558258
NM_002230.4(JUP):c.1482G>C (p.Gln494His) rs1367975995
NM_002230.4(JUP):c.1495A>C (p.Lys499Gln) rs782395614
NM_002230.4(JUP):c.1512G>T (p.Leu504Phe)
NM_002230.4(JUP):c.1525G>T (p.Ala509Ser) rs1555599847
NM_002230.4(JUP):c.1534C>G (p.Pro512Ala)
NM_002230.4(JUP):c.1544A>G (p.His515Arg) rs2143460147
NM_002230.4(JUP):c.1546G>A (p.Ala516Thr) rs2143460021
NM_002230.4(JUP):c.1547C>A (p.Ala516Asp) rs1255846046
NM_002230.4(JUP):c.1549C>T (p.Pro517Ser)
NM_002230.4(JUP):c.154C>A (p.Gln52Lys)
NM_002230.4(JUP):c.1556A>T (p.Gln519Leu) rs1060502677
NM_002230.4(JUP):c.1563_1565dup (p.Ala522_Val523insAla)
NM_002230.4(JUP):c.1565C>A (p.Ala522Glu) rs1060502679
NM_002230.4(JUP):c.1573C>T (p.Pro525Ser) rs1914314355
NM_002230.4(JUP):c.1574C>T (p.Pro525Leu)
NM_002230.4(JUP):c.1576C>A (p.Arg526Ser) rs782309611
NM_002230.4(JUP):c.1597A>G (p.Lys533Glu)
NM_002230.4(JUP):c.1619G>A (p.Arg540His) rs376881608
NM_002230.4(JUP):c.1622A>T (p.His541Leu) rs782449369
NM_002230.4(JUP):c.1625T>C (p.Val542Ala) rs2143457194
NM_002230.4(JUP):c.1634G>A (p.Gly545Asp)
NM_002230.4(JUP):c.1635C>T (p.Gly545=)
NM_002230.4(JUP):c.1642C>G (p.Gln548Glu)
NM_002230.4(JUP):c.1646C>A (p.Pro549His) rs1555599683
NM_002230.4(JUP):c.1653+4T>A
NM_002230.4(JUP):c.1653+5G>C
NM_002230.4(JUP):c.1653G>T (p.Thr551=)
NM_002230.4(JUP):c.1654-7C>A rs1395283149
NM_002230.4(JUP):c.1654G>A (p.Asp552Asn) rs2143451579
NM_002230.4(JUP):c.1658G>C (p.Gly553Ala) rs782759301
NM_002230.4(JUP):c.1658G>T (p.Gly553Val)
NM_002230.4(JUP):c.1688G>A (p.Cys563Tyr) rs142006878
NM_002230.4(JUP):c.1702C>T (p.His568Tyr) rs794729048
NM_002230.4(JUP):c.1705A>T (p.Ile569Phe) rs370101446
NM_002230.4(JUP):c.1711G>A (p.Ala571Thr) rs397517297
NM_002230.4(JUP):c.1711G>T (p.Ala571Ser) rs397517297
NM_002230.4(JUP):c.1715G>T (p.Arg572Leu) rs397517298
NM_002230.4(JUP):c.1717G>T (p.Asp573Tyr)
NM_002230.4(JUP):c.1725G>T (p.Met575Ile)
NM_002230.4(JUP):c.1738A>T (p.Ile580Phe)
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln) rs781828085
NM_002230.4(JUP):c.1759C>T (p.Pro587Ser)
NM_002230.4(JUP):c.1762C>G (p.Leu588Val)
NM_002230.4(JUP):c.1773+3G>A rs1460748612
NM_002230.4(JUP):c.1774C>G (p.Leu592Val)
NM_002230.4(JUP):c.1778T>A (p.Leu593Gln)
NM_002230.4(JUP):c.1796A>G (p.Asn599Ser) rs1257379135
NM_002230.4(JUP):c.1807G>A (p.Val603Met) rs200327969
NM_002230.4(JUP):c.1816G>A (p.Gly606Arg)
NM_002230.4(JUP):c.1816G>C (p.Gly606Arg) rs1371912642
NM_002230.4(JUP):c.1825T>C (p.Cys609Arg)
NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)
NM_002230.4(JUP):c.1842C>G (p.Asp614Glu) rs2143427860
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr) rs397517299
NM_002230.4(JUP):c.185C>A (p.Thr62Asn) rs1555606943
NM_002230.4(JUP):c.1870G>C (p.Glu624Gln) rs2143426682
NM_002230.4(JUP):c.1871A>G (p.Glu624Gly) rs1914071758
NM_002230.4(JUP):c.1876G>C (p.Ala626Pro) rs782547688
NM_002230.4(JUP):c.188A>G (p.Gln63Arg)
NM_002230.4(JUP):c.1895A>G (p.Glu632Gly)
NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)
NM_002230.4(JUP):c.1913A>C (p.Asn638Thr) rs561484928
NM_002230.4(JUP):c.1914C>G (p.Asn638Lys)
NM_002230.4(JUP):c.1925-9T>A rs2143420829
NM_002230.4(JUP):c.1927A>G (p.Thr643Ala) rs2143420466
NM_002230.4(JUP):c.1927A>T (p.Thr643Ser) rs2143420466
NM_002230.4(JUP):c.1934C>T (p.Ala645Val)
NM_002230.4(JUP):c.193G>A (p.Val65Met) rs727503100
NM_002230.4(JUP):c.193G>T (p.Val65Leu) rs727503100
NM_002230.4(JUP):c.1948T>C (p.Phe650Leu) rs1208908708
NM_002230.4(JUP):c.1951C>T (p.Arg651Cys)
NM_002230.4(JUP):c.1954A>G (p.Ile652Val) rs2143419427
NM_002230.4(JUP):c.1960G>A (p.Glu654Lys)
NM_002230.4(JUP):c.196C>T (p.Pro66Ser)
NM_002230.4(JUP):c.1972C>T (p.Pro658Ser)
NM_002230.4(JUP):c.1976A>G (p.Asp659Gly) rs782124059
NM_002230.4(JUP):c.1979A>G (p.Tyr660Cys) rs1555598672
NM_002230.4(JUP):c.197C>T (p.Pro66Leu)
NM_002230.4(JUP):c.1981C>T (p.Arg661Trp)
NM_002230.4(JUP):c.1987C>T (p.Arg663Cys)
NM_002230.4(JUP):c.1990G>C (p.Val664Leu) rs782695128
NM_002230.4(JUP):c.1994C>T (p.Ser665Phe) rs1555598615
NM_002230.4(JUP):c.1996G>T (p.Val666Leu) rs372369061
NM_002230.4(JUP):c.1_6del (p.Met1_Glu2del) rs1916704473
NM_002230.4(JUP):c.2002C>T (p.Leu668Phe)
NM_002230.4(JUP):c.2032G>A (p.Ala678Thr)
NM_002230.4(JUP):c.2035G>T (p.Ala679Ser)
NM_002230.4(JUP):c.2045C>T (p.Ala682Val)
NM_002230.4(JUP):c.2046T>C (p.Ala682=) rs782632671
NM_002230.4(JUP):c.2073G>T (p.Glu691Asp) rs1162219431
NM_002230.4(JUP):c.2078A>C (p.Tyr693Ser) rs782475413
NM_002230.4(JUP):c.209-3del rs560947371
NM_002230.4(JUP):c.209G>A (p.Gly70Asp)
NM_002230.4(JUP):c.2108C>G (p.Pro703Arg) rs1008749253
NM_002230.4(JUP):c.2110A>G (p.Met704Val)
NM_002230.4(JUP):c.2112G>A (p.Met704Ile) rs1555597505
NM_002230.4(JUP):c.2114A>T (p.Tyr705Phe)
NM_002230.4(JUP):c.2118dup (p.Ser707fs) rs1913623011
NM_002230.4(JUP):c.2129C>A (p.Pro710His)
NM_002230.4(JUP):c.2137C>A (p.Pro713Thr) rs1555597496
NM_002230.4(JUP):c.2138C>T (p.Pro713Leu)
NM_002230.4(JUP):c.2141T>C (p.Leu714Pro) rs2143373822
NM_002230.4(JUP):c.2152A>G (p.Met718Val)
NM_002230.4(JUP):c.2156A>G (p.Asp719Gly) rs1283154446
NM_002230.4(JUP):c.2158A>G (p.Met720Val)
NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)
NM_002230.4(JUP):c.2185T>A (p.Tyr729Asn) rs1555597428
NM_002230.4(JUP):c.2188A>G (p.Ser730Gly) rs1009184280
NM_002230.4(JUP):c.2197C>T (p.Leu733Phe)
NM_002230.4(JUP):c.21G>A (p.Met7Ile) rs782076076
NM_002230.4(JUP):c.2203C>T (p.Pro735Ser)
NM_002230.4(JUP):c.2204C>G (p.Pro735Arg) rs782574785
NM_002230.4(JUP):c.2204C>T (p.Pro735Leu) rs782574785
NM_002230.4(JUP):c.2215A>G (p.Thr739Ala)
NM_002230.4(JUP):c.2219C>T (p.Ala740Val)
NM_002230.4(JUP):c.2227A>G (p.Met743Val) rs1913591137
NM_002230.4(JUP):c.226A>G (p.Met76Val) rs782730235
NM_002230.4(JUP):c.228G>A (p.Met76Ile) rs202091411
NM_002230.4(JUP):c.230C>T (p.Ser77Phe)
NM_002230.4(JUP):c.232A>G (p.Thr78Ala) rs1916308035
NM_002230.4(JUP):c.238G>A (p.Ala80Thr)
NM_002230.4(JUP):c.248A>G (p.Lys83Arg)
NM_002230.4(JUP):c.250C>G (p.Arg84Gly) rs782306414
NM_002230.4(JUP):c.253G>C (p.Val85Leu) rs782425952
NM_002230.4(JUP):c.25C>G (p.Gln9Glu)
NM_002230.4(JUP):c.262_263delinsAA (p.Ala88Asn) rs1916297521
NM_002230.4(JUP):c.266T>A (p.Met89Lys)
NM_002230.4(JUP):c.269G>T (p.Cys90Phe)
NM_002230.4(JUP):c.272C>T (p.Pro91Leu) rs1567819889
NM_002230.4(JUP):c.275G>A (p.Gly92Asp) rs782737074
NM_002230.4(JUP):c.278T>G (p.Val93Gly) rs1916292032
NM_002230.4(JUP):c.289G>C (p.Asp97His) rs2143696352
NM_002230.4(JUP):c.292A>G (p.Ser98Gly)
NM_002230.4(JUP):c.293G>A (p.Ser98Asn) rs1555605891
NM_002230.4(JUP):c.298C>T (p.Leu100Phe) rs1555605883
NM_002230.4(JUP):c.308C>G (p.Ala103Gly) rs2143695852
NM_002230.4(JUP):c.315G>T (p.Gln105His)
NM_002230.4(JUP):c.328G>A (p.Ala110Thr) rs1916275770
NM_002230.4(JUP):c.35A>G (p.Lys12Arg)
NM_002230.4(JUP):c.365T>C (p.Leu122Pro) rs2143694308
NM_002230.4(JUP):c.379A>G (p.Ile127Val) rs1205967739
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.401A>T (p.Gln134Leu)
NM_002230.4(JUP):c.403G>C (p.Asp135His) rs1555605721
NM_002230.4(JUP):c.406G>C (p.Asp136His) rs782392706
NM_002230.4(JUP):c.406G>T (p.Asp136Tyr) rs782392706
NM_002230.4(JUP):c.450_451delinsCA (p.Leu151Ile) rs2143691917
NM_002230.4(JUP):c.455A>G (p.Asn152Ser) rs1555605656
NM_002230.4(JUP):c.457G>A (p.Asp153Asn)
NM_002230.4(JUP):c.468+18C>G
NM_002230.4(JUP):c.468+4T>C rs782412433
NM_002230.4(JUP):c.484G>A (p.Ala162Thr)
NM_002230.4(JUP):c.484G>T (p.Ala162Ser) rs1555605437
NM_002230.4(JUP):c.487G>A (p.Ala163Thr) rs782239920
NM_002230.4(JUP):c.49C>A (p.Gln17Lys)
NM_002230.4(JUP):c.500A>T (p.Asn167Ile) rs2143684902
NM_002230.4(JUP):c.505C>G (p.Leu169Val) rs1916178629
NM_002230.4(JUP):c.511AAG[1] (p.Lys172del) rs2143684447
NM_002230.4(JUP):c.515A>G (p.Lys172Arg) rs2143684482
NM_002230.4(JUP):c.527G>T (p.Arg176Leu)
NM_002230.4(JUP):c.536T>A (p.Leu179Gln)
NM_002230.4(JUP):c.542G>T (p.Gly181Val) rs1555605325
NM_002230.4(JUP):c.542_556dup (p.Gly181_Leu185dup) rs1555605296
NM_002230.4(JUP):c.54G>C (p.Gln18His)
NM_002230.4(JUP):c.559G>A (p.Ala187Thr)
NM_002230.4(JUP):c.55A>G (p.Thr19Ala)
NM_002230.4(JUP):c.563C>G (p.Ala188Gly)
NM_002230.4(JUP):c.565G>C (p.Val189Leu)
NM_002230.4(JUP):c.568G>C (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.568G>T (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.579G>A (p.Met193Ile) rs1916162051
NM_002230.4(JUP):c.593A>C (p.Asp198Ala) rs1916158675
NM_002230.4(JUP):c.599A>C (p.Asp200Ala)
NM_002230.4(JUP):c.599A>G (p.Asp200Gly)
NM_002230.4(JUP):c.602C>T (p.Thr201Ile) rs1916155693
NM_002230.4(JUP):c.605C>T (p.Ala202Val) rs782337928
NM_002230.4(JUP):c.622A>G (p.Ile208Val)
NM_002230.4(JUP):c.626T>A (p.Leu209Gln)
NM_002230.4(JUP):c.631A>C (p.Asn211His)
NM_002230.4(JUP):c.631_633del (p.Asn211del) rs1916151526
NM_002230.4(JUP):c.634C>G (p.Leu212Val)
NM_002230.4(JUP):c.643C>T (p.His215Tyr)
NM_002230.4(JUP):c.650A>G (p.Glu217Gly) rs2143680736
NM_002230.4(JUP):c.652G>A (p.Gly218Arg) rs1597823588
NM_002230.4(JUP):c.652G>C (p.Gly218Arg) rs1597823588
NM_002230.4(JUP):c.664A>G (p.Ile222Val)
NM_002230.4(JUP):c.67G>A (p.Asp23Asn)
NM_002230.4(JUP):c.692T>C (p.Leu231Pro) rs782109462
NM_002230.4(JUP):c.700A>G (p.Met234Val)
NM_002230.4(JUP):c.722C>T (p.Ser241Leu)
NM_002230.4(JUP):c.731T>C (p.Phe244Ser) rs1915926866
NM_002230.4(JUP):c.743C>A (p.Thr248Asn)
NM_002230.4(JUP):c.745A>C (p.Thr249Pro) rs2143652715
NM_002230.4(JUP):c.751C>T (p.His251Tyr)
NM_002230.4(JUP):c.754A>G (p.Asn252Asp) rs1915923358
NM_002230.4(JUP):c.766T>C (p.Tyr256His) rs1915921460
NM_002230.4(JUP):c.76A>C (p.Ile26Leu)
NM_002230.4(JUP):c.772G>C (p.Glu258Gln) rs1915920461
NM_002230.4(JUP):c.790G>A (p.Val264Met)
NM_002230.4(JUP):c.796C>G (p.Leu266Val) rs2143651347
NM_002230.4(JUP):c.805G>A (p.Gly269Arg) rs1915915013
NM_002230.4(JUP):c.805G>C (p.Gly269Arg)
NM_002230.4(JUP):c.817A>T (p.Met273Leu) rs2143650846
NM_002230.4(JUP):c.820G>A (p.Val274Met) rs1555604537
NM_002230.4(JUP):c.839A>G (p.Asn280Ser)
NM_002230.4(JUP):c.83C>T (p.Ser28Leu) rs782713414
NM_002230.4(JUP):c.856G>A (p.Ala286Thr) rs1915907385
NM_002230.4(JUP):c.859A>G (p.Ile287Val) rs1567815934
NM_002230.4(JUP):c.865_866delinsCT (p.Thr289Leu) rs1915905294
NM_002230.4(JUP):c.871T>C (p.Cys291Arg) rs2143649566
NM_002230.4(JUP):c.872G>A (p.Cys291Tyr) rs1915903369
NM_002230.4(JUP):c.874C>G (p.Leu292Val) rs1915903019
NM_002230.4(JUP):c.875T>C (p.Leu292Pro)
NM_002230.4(JUP):c.886G>T (p.Ala296Ser)
NM_002230.4(JUP):c.909+6C>A
NM_002230.4(JUP):c.926A>T (p.Asn309Ile) rs140606359
NM_002230.4(JUP):c.931G>A (p.Gly311Arg) rs1915488679
NM_002230.4(JUP):c.941C>G (p.Ala314Gly) rs201214805
NM_002230.4(JUP):c.947T>G (p.Val316Gly) rs1915485566
NM_002230.4(JUP):c.952A>G (p.Ile318Val)
NM_002230.4(JUP):c.958C>A (p.Arg320Ser)
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392
NM_002230.4(JUP):c.959G>T (p.Arg320Leu)
NM_002230.4(JUP):c.970T>A (p.Tyr324Asn)
NM_002230.4(JUP):c.970T>C (p.Tyr324His)
NM_002230.4(JUP):c.98G>T (p.Cys33Phe)
NM_002230.4(JUP):c.995G>A (p.Ser332Asn) rs1915476254
NM_004415.4(DSP):c.1027G>A (p.Ala343Thr)
NM_004415.4(DSP):c.1044+3A>C rs765089914
NM_004415.4(DSP):c.1044+3A>G rs765089914
NM_004415.4(DSP):c.1044+5G>T
NM_004415.4(DSP):c.1044G>A (p.Glu348=) rs1758868593
NM_004415.4(DSP):c.1045G>C (p.Ala349Pro)
NM_004415.4(DSP):c.1052T>G (p.Met351Arg)
NM_004415.4(DSP):c.1054G>A (p.Asp352Asn)
NM_004415.4(DSP):c.1056_1061del (p.Asp352_Leu354delinsGlu) rs1758892954
NM_004415.4(DSP):c.1058C>G (p.Thr353Ser)
NM_004415.4(DSP):c.1061T>C (p.Leu354Pro)
NM_004415.4(DSP):c.1061T>G (p.Leu354Arg)
NM_004415.4(DSP):c.1066A>G (p.Thr356Ala)
NM_004415.4(DSP):c.1066A>T (p.Thr356Ser) rs1052446501
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1074G>C (p.Trp358Cys) rs1758893971
NM_004415.4(DSP):c.1084C>T (p.Leu362Phe)
NM_004415.4(DSP):c.1094C>G (p.Thr365Ser) rs754577019
NM_004415.4(DSP):c.1102A>G (p.Ile368Val) rs794728112
NM_004415.4(DSP):c.110C>G (p.Thr37Ser)
NM_004415.4(DSP):c.1112A>C (p.His371Pro) rs397516912
NM_004415.4(DSP):c.1112A>G (p.His371Arg) rs397516912
NM_004415.4(DSP):c.1112A>T (p.His371Leu)
NM_004415.4(DSP):c.1115T>C (p.Leu372Pro) rs1758895792
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile) rs757853478
NM_004415.4(DSP):c.1142T>C (p.Phe381Ser) rs1209991251
NM_004415.4(DSP):c.1165G>A (p.Glu389Lys) rs1758909720
NM_004415.4(DSP):c.1181G>C (p.Gly394Ala)
NM_004415.4(DSP):c.1184T>C (p.Leu395Pro)
NM_004415.4(DSP):c.1201A>G (p.Lys401Glu)
NM_004415.4(DSP):c.1216G>A (p.Asp406Asn) rs1758911711
NM_004415.4(DSP):c.123_125dup (p.Tyr42_Ser43insTyr)
NM_004415.4(DSP):c.125A>G (p.Tyr42Cys)
NM_004415.4(DSP):c.1266+3A>G
NM_004415.4(DSP):c.1266+6G>A rs73375345
NM_004415.4(DSP):c.1266G>C (p.Glu422Asp) rs1758913797
NM_004415.4(DSP):c.1274G>T (p.Arg425Leu) rs397516916
NM_004415.4(DSP):c.1282A>G (p.Ile428Val)
NM_004415.4(DSP):c.1308G>C (p.Gln436His) rs1057522715
NM_004415.4(DSP):c.1310A>G (p.Asn437Ser) rs2113674233
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr) rs1554106843
NM_004415.4(DSP):c.1333A>G (p.Ile445Val)
NM_004415.4(DSP):c.1335T>G (p.Ile445Met) rs898213877
NM_004415.4(DSP):c.133C>T (p.Arg45Cys)
NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu) rs1581802595
NM_004415.4(DSP):c.1351C>T (p.Arg451Cys) rs1057518309
NM_004415.4(DSP):c.1352G>A (p.Arg451His) rs786204294
NM_004415.4(DSP):c.1352G>C (p.Arg451Pro)
NM_004415.4(DSP):c.1357C>A (p.Pro453Thr)
NM_004415.4(DSP):c.1372A>T (p.Asn458Tyr)
NM_004415.4(DSP):c.1382T>C (p.Ile461Thr) rs1554106853
NM_004415.4(DSP):c.1392A>C (p.Arg464Ser) rs1403332231
NM_004415.4(DSP):c.1396C>T (p.Leu466Phe)
NM_004415.4(DSP):c.1397T>C (p.Leu466Pro) rs727504661
NM_004415.4(DSP):c.1414G>A (p.Asp472Asn) rs2113674467
NM_004415.4(DSP):c.1420-3C>T rs786204296
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg) rs1288305110
NM_004415.4(DSP):c.1441G>A (p.Glu481Lys) rs1758958794
NM_004415.4(DSP):c.1444T>C (p.Cys482Arg) rs746816016
NM_004415.4(DSP):c.1445G>A (p.Cys482Tyr) rs1472091469
NM_004415.4(DSP):c.1460A>G (p.Asn487Ser)
NM_004415.4(DSP):c.1483G>T (p.Val495Leu) rs372014020
NM_004415.4(DSP):c.1484T>G (p.Val495Gly) rs727504518
NM_004415.4(DSP):c.1487C>G (p.Thr496Arg) rs374283517
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala) rs1581803474
NM_004415.4(DSP):c.1492C>T (p.Pro498Ser) rs1581803474
NM_004415.4(DSP):c.14G>C (p.Gly5Ala) rs1757989474
NM_004415.4(DSP):c.1504G>A (p.Asp502Asn) rs750547425
NM_004415.4(DSP):c.1509G>A (p.Met503Ile)
NM_004415.4(DSP):c.1513G>A (p.Val505Ile)
NM_004415.4(DSP):c.1529T>C (p.Leu510Pro) rs2113675644
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys) rs1407207091
NM_004415.4(DSP):c.1555G>T (p.Ala519Ser) rs2113675699
NM_004415.4(DSP):c.1556C>T (p.Ala519Val) rs1395532173
NM_004415.4(DSP):c.1558G>T (p.Val520Leu) rs777545428
NM_004415.4(DSP):c.1561G>A (p.Asp521Asn) rs1449447405
NM_004415.4(DSP):c.1565T>C (p.Leu522Pro) rs955640904
NM_004415.4(DSP):c.1574+5G>A rs2113675801
NM_004415.4(DSP):c.1574A>G (p.Lys525Arg)
NM_004415.4(DSP):c.1575-4_1575-3del rs1759008080
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr) rs1561689358
NM_004415.4(DSP):c.158C>T (p.Ser53Leu) rs1398517175
NM_004415.4(DSP):c.1603G>C (p.Ala535Pro) rs777088675
NM_004415.4(DSP):c.1615C>A (p.Gln539Lys) rs727504498
NM_004415.4(DSP):c.1619T>C (p.Leu540Pro)
NM_004415.4(DSP):c.1624A>G (p.Ile542Val) rs2113677376
NM_004415.4(DSP):c.162C>G (p.Asp54Glu)
NM_004415.4(DSP):c.1660A>G (p.Met554Val)
NM_004415.4(DSP):c.1670T>C (p.Ile557Thr) rs1759012793
NM_004415.4(DSP):c.1675A>G (p.Lys559Glu)
NM_004415.4(DSP):c.169T>C (p.Cys57Arg)
NM_004415.4(DSP):c.170+15G>A
NM_004415.4(DSP):c.170+2dup rs2113629250
NM_004415.4(DSP):c.170+5G>A rs727502996
NM_004415.4(DSP):c.170+5G>C rs727502996
NM_004415.4(DSP):c.170+5del rs1554104240
NM_004415.4(DSP):c.170+5dup
NM_004415.4(DSP):c.1700A>G (p.Lys567Arg) rs2113677553
NM_004415.4(DSP):c.1702-13T>A rs771235236
NM_004415.4(DSP):c.1702-16_1702-15delinsCT
NM_004415.4(DSP):c.171-3dup rs1554105600
NM_004415.4(DSP):c.1711A>G (p.Met571Val)
NM_004415.4(DSP):c.1712T>C (p.Met571Thr)
NM_004415.4(DSP):c.1729A>C (p.Met577Leu) rs764127243
NM_004415.4(DSP):c.1737_1738delinsTT (p.Ile580Leu)
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile) rs1759048949
NM_004415.4(DSP):c.17G>C (p.Gly6Ala) rs1339636876
NM_004415.4(DSP):c.1815_1820dup (p.Lys607_Ile608insArgLys)
NM_004415.4(DSP):c.1847A>G (p.Gln616Arg)
NM_004415.4(DSP):c.1852C>T (p.His618Tyr)
NM_004415.4(DSP):c.186G>A (p.Met62Ile) rs1758488135
NM_004415.4(DSP):c.1870A>G (p.Ile624Val) rs1759053122
NM_004415.4(DSP):c.1873C>G (p.Gln625Glu) rs876657638
NM_004415.4(DSP):c.1880C>T (p.Pro627Leu) rs2113679213
NM_004415.4(DSP):c.1901C>A (p.Thr634Lys) rs139964486
NM_004415.4(DSP):c.1901C>T (p.Thr634Ile)
NM_004415.4(DSP):c.1902A>G (p.Thr634=) rs1759054491
NM_004415.4(DSP):c.1903+11G>T
NM_004415.4(DSP):c.1903+3C>T rs754326012
NM_004415.4(DSP):c.1903+3del rs1064793548
NM_004415.4(DSP):c.1904T>C (p.Val635Ala)
NM_004415.4(DSP):c.1913C>T (p.Thr638Ile)
NM_004415.4(DSP):c.1945G>A (p.Val649Ile) rs2113679772
NM_004415.4(DSP):c.194A>G (p.His65Arg) rs771190708
NM_004415.4(DSP):c.194A>T (p.His65Leu) rs771190708
NM_004415.4(DSP):c.1950C>A (p.Asn650Lys)
NM_004415.4(DSP):c.1963A>G (p.Ile655Val)
NM_004415.4(DSP):c.1964T>A (p.Ile655Asn)
NM_004415.4(DSP):c.1968A>T (p.Glu656Asp) rs2113679857
NM_004415.4(DSP):c.1970C>A (p.Thr657Asn)
NM_004415.4(DSP):c.1970C>T (p.Thr657Ile) rs1014373689
NM_004415.4(DSP):c.1975A>G (p.Arg659Gly)
NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del) rs1554107128
NM_004415.4(DSP):c.1985A>G (p.Asp662Gly)
NM_004415.4(DSP):c.1993G>A (p.Glu665Lys) rs2113679925
NM_004415.4(DSP):c.1996A>G (p.Thr666Ala)
NM_004415.4(DSP):c.2002A>T (p.Met668Leu)
NM_004415.4(DSP):c.2006T>C (p.Leu669Pro)
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly) rs758530970
NM_004415.4(DSP):c.201C>A (p.Asn67Lys)
NM_004415.4(DSP):c.2023A>T (p.Ile675Phe) rs142619902
NM_004415.4(DSP):c.2042A>G (p.His681Arg)
NM_004415.4(DSP):c.2047G>C (p.Glu683Gln)
NM_004415.4(DSP):c.2050G>T (p.Gly684Cys) rs1759071281
NM_004415.4(DSP):c.2055G>T (p.Arg685Ser)
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu) rs1561690890
NM_004415.4(DSP):c.2080G>A (p.Ala694Thr) rs2113680169
NM_004415.4(DSP):c.2084A>G (p.Asp695Gly) rs2113680188
NM_004415.4(DSP):c.20C>T (p.Ser7Phe)
NM_004415.4(DSP):c.2107A>G (p.Thr703Ala)
NM_004415.4(DSP):c.2119A>G (p.Asn707Asp) rs756272327
NM_004415.4(DSP):c.2135T>C (p.Val712Ala) rs2113682966
NM_004415.4(DSP):c.2139G>T (p.Gln713His)
NM_004415.4(DSP):c.2146T>G (p.Ser716Ala) rs1759149630
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys) rs963374775
NM_004415.4(DSP):c.2164G>T (p.Val722Phe) rs1581808686
NM_004415.4(DSP):c.2176C>G (p.Leu726Val) rs1759151851
NM_004415.4(DSP):c.2188C>T (p.Leu730Phe) rs2113683126
NM_004415.4(DSP):c.2196C>G (p.Asn732Lys) rs1424884336
NM_004415.4(DSP):c.2197T>C (p.Phe733Leu)
NM_004415.4(DSP):c.2199C>G (p.Phe733Leu) rs1306942907
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys) rs1561692443
NM_004415.4(DSP):c.2204G>A (p.Gly735Asp)
NM_004415.4(DSP):c.2204G>T (p.Gly735Val) rs1759154089
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala) rs969462343
NM_004415.4(DSP):c.2275G>T (p.Val759Phe)
NM_004415.4(DSP):c.227A>G (p.Gln76Arg) rs1581790962
NM_004415.4(DSP):c.2297+5A>G
NM_004415.4(DSP):c.2301A>C (p.Leu767Phe) rs1759176601
NM_004415.4(DSP):c.2314G>C (p.Ala772Pro) rs766440842
NM_004415.4(DSP):c.2317C>G (p.Leu773Val)
NM_004415.4(DSP):c.2321T>A (p.Leu774His)
NM_004415.4(DSP):c.232T>G (p.Cys78Gly) rs1758490063
NM_004415.4(DSP):c.2333T>C (p.Leu778Pro) rs1337668206
NM_004415.4(DSP):c.2338A>G (p.Thr780Ala)
NM_004415.4(DSP):c.2344G>T (p.Asp782Tyr) rs2113684062
NM_004415.4(DSP):c.2360A>C (p.Tyr787Ser) rs778350289
NM_004415.4(DSP):c.238G>A (p.Asp80Asn) rs1453492594
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.4(DSP):c.2404G>C (p.Asp802His)
NM_004415.4(DSP):c.2408A>C (p.Lys803Thr) rs1759183296
NM_004415.4(DSP):c.2411T>C (p.Val804Ala)
NM_004415.4(DSP):c.242G>T (p.Cys81Phe) rs140965835
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) rs869025391
NM_004415.4(DSP):c.2432T>G (p.Leu811Arg) rs869025391
NM_004415.4(DSP):c.2435A>T (p.Lys812Met) rs1268969488
NM_004415.4(DSP):c.2436+6T>C
NM_004415.4(DSP):c.2436G>A (p.Lys812=)
NM_004415.4(DSP):c.2437A>C (p.Lys813Gln) rs1395903631
NM_004415.4(DSP):c.2437A>G (p.Lys813Glu) rs1395903631
NM_004415.4(DSP):c.248T>C (p.Met83Thr) rs2113653951
NM_004415.4(DSP):c.2504C>T (p.Ala835Val)
NM_004415.4(DSP):c.2507A>G (p.Gln836Arg) rs1554107616
NM_004415.4(DSP):c.250C>G (p.Arg84Gly) rs768521444
NM_004415.4(DSP):c.2511G>C (p.Gln837His) rs2113685122
NM_004415.4(DSP):c.2548G>A (p.Asp850Asn) rs1554107626
NM_004415.4(DSP):c.2564A>T (p.Lys855Met) rs2113685253
NM_004415.4(DSP):c.2570G>A (p.Gly857Asp)
NM_004415.4(DSP):c.2572G>A (p.Glu858Lys) rs1759209717
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile) rs1759210367
NM_004415.4(DSP):c.2596C>A (p.Arg866Ser) rs142429411
NM_004415.4(DSP):c.2606G>A (p.Arg869Lys)
NM_004415.4(DSP):c.2608A>T (p.Ile870Leu) rs1561693971
NM_004415.4(DSP):c.2611G>A (p.Asp871Asn)
NM_004415.4(DSP):c.2628T>G (p.Phe876Leu)
NM_004415.4(DSP):c.262A>G (p.Ile88Val) rs1581791030
NM_004415.4(DSP):c.2630+5G>C
NM_004415.4(DSP):c.2631-3C>T rs1041054817
NM_004415.4(DSP):c.2631-6C>G rs1759237205
NM_004415.4(DSP):c.2650C>G (p.Gln884Glu)
NM_004415.4(DSP):c.2665A>G (p.Arg889Gly)
NM_004415.4(DSP):c.2680A>T (p.Asn894Tyr) rs1060500614
NM_004415.4(DSP):c.2695T>C (p.Cys899Arg) rs2113686590
NM_004415.4(DSP):c.2700G>T (p.Lys900Asn)
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys) rs1057519251
NM_004415.4(DSP):c.2704C>T (p.Leu902Phe) rs1443682154
NM_004415.4(DSP):c.273+10_273+11insGTGCAG
NM_004415.4(DSP):c.274-8_274-7delinsAT rs1561680554
NM_004415.4(DSP):c.2744T>A (p.Met915Lys) rs750869761
NM_004415.4(DSP):c.2758T>C (p.Ser920Pro) rs373804924
NM_004415.4(DSP):c.2759C>T (p.Ser920Phe) rs1481929065
NM_004415.4(DSP):c.2772G>T (p.Met924Ile)
NM_004415.4(DSP):c.2777T>C (p.Phe926Ser)
NM_004415.4(DSP):c.2789A>C (p.Gln930Pro)
NM_004415.4(DSP):c.2790G>C (p.Gln930His) rs2113686814
NM_004415.4(DSP):c.2794-17T>G
NM_004415.4(DSP):c.279G>C (p.Leu93Phe) rs1447901875
NM_004415.4(DSP):c.2818A>G (p.Lys940Glu) rs2113687560
NM_004415.4(DSP):c.2821C>G (p.Arg941Gly) rs730880082
NM_004415.4(DSP):c.2825A>T (p.Asp942Val)
NM_004415.4(DSP):c.284A>T (p.Tyr95Phe)
NM_004415.4(DSP):c.2867A>G (p.Asn956Ser)
NM_004415.4(DSP):c.286G>A (p.Gly96Arg) rs2113657461
NM_004415.4(DSP):c.2877+6T>A rs1331983690
NM_004415.4(DSP):c.2879A>G (p.Asp960Gly)
NM_004415.4(DSP):c.2887C>T (p.Leu963Phe) rs779931043
NM_004415.4(DSP):c.2893C>G (p.Leu965Val) rs1239813518
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro) rs1581813405
NM_004415.4(DSP):c.289G>A (p.Asp97Asn)
NM_004415.4(DSP):c.2936C>G (p.Pro979Arg) rs1759288530
NM_004415.4(DSP):c.2948C>T (p.Thr983Ile) rs1040862892
NM_004415.4(DSP):c.2950A>G (p.Met984Val) rs868110541
NM_004415.4(DSP):c.2963C>T (p.Pro988Leu) rs2113689067
NM_004415.4(DSP):c.2986-3A>C
NM_004415.4(DSP):c.2986G>T (p.Ala996Ser) rs1254054471
NM_004415.4(DSP):c.2990C>T (p.Ala997Val)
NM_004415.4(DSP):c.2998_3012del (p.His1000_Ile1004del)
NM_004415.4(DSP):c.3010A>G (p.Ile1004Val) rs1561696251
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe) rs1018173692
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile) rs1334187363
NM_004415.4(DSP):c.3026G>T (p.Arg1009Ile) rs1759318084
NM_004415.4(DSP):c.3046T>G (p.Phe1016Val) rs1561696335
NM_004415.4(DSP):c.304A>C (p.Thr102Pro)
NM_004415.4(DSP):c.3068G>A (p.Ser1023Asn) rs2113690096
NM_004415.4(DSP):c.3070T>G (p.Leu1024Val) rs1474315262
NM_004415.4(DSP):c.307C>G (p.Arg103Gly)
NM_004415.4(DSP):c.3080T>C (p.Leu1027Pro)
NM_004415.4(DSP):c.3102C>G (p.Ile1034Met) rs569974617
NM_004415.4(DSP):c.3103G>A (p.Glu1035Lys) rs760307890
NM_004415.4(DSP):c.3134G>C (p.Arg1045Pro) rs374263890
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val) rs397516931
NM_004415.4(DSP):c.3144C>G (p.Asn1048Lys)
NM_004415.4(DSP):c.3157A>G (p.Asn1053Asp)
NM_004415.4(DSP):c.3163A>G (p.Asn1055Asp)
NM_004415.4(DSP):c.3184C>A (p.Leu1062Met) rs2113691218
NM_004415.4(DSP):c.3190A>G (p.Lys1064Glu) rs1383448057
NM_004415.4(DSP):c.31A>G (p.Ile11Val)
NM_004415.4(DSP):c.3230C>T (p.Ala1077Val) rs1257696096
NM_004415.4(DSP):c.3238G>A (p.Glu1080Lys) rs1759345464
NM_004415.4(DSP):c.3243G>T (p.Glu1081Asp)
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys) rs1561697118
NM_004415.4(DSP):c.3263T>C (p.Leu1088Pro)
NM_004415.4(DSP):c.328T>C (p.Cys110Arg) rs1554105823
NM_004415.4(DSP):c.3296A>G (p.Lys1099Arg)
NM_004415.4(DSP):c.3298T>C (p.Cys1100Arg) rs757539604
NM_004415.4(DSP):c.3298T>G (p.Cys1100Gly) rs757539604
NM_004415.4(DSP):c.3310A>C (p.Ile1104Leu)
NM_004415.4(DSP):c.3310A>T (p.Ile1104Leu) rs2113691466
NM_004415.4(DSP):c.3312A>G (p.Ile1104Met)
NM_004415.4(DSP):c.3319C>T (p.Leu1107Phe) rs1759348638
NM_004415.4(DSP):c.3340C>A (p.Leu1114Met)
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile) rs1393151720
NM_004415.4(DSP):c.3346_3354del (p.Tyr1116_Ile1118del)
NM_004415.4(DSP):c.3368GAA[2] (p.Arg1125del) rs1405952840
NM_004415.4(DSP):c.3371G>A (p.Arg1124Lys)
NM_004415.4(DSP):c.3399C>G (p.Asp1133Glu)
NM_004415.4(DSP):c.3401A>C (p.Gln1134Pro) rs2113691687
NM_004415.4(DSP):c.3404A>C (p.Gln1135Pro) rs754250788
NM_004415.4(DSP):c.3408_3409delinsAG (p.Asn1137Asp) rs1759352206
NM_004415.4(DSP):c.3458T>G (p.Leu1153Arg) rs1554108085
NM_004415.4(DSP):c.3465G>C (p.Trp1155Cys) rs1759354150
NM_004415.4(DSP):c.3469A>C (p.Lys1157Gln) rs1759354483
NM_004415.4(DSP):c.346G>A (p.Asp116Asn)
NM_004415.4(DSP):c.3485A>C (p.Lys1162Thr)
NM_004415.4(DSP):c.3492C>G (p.Ile1164Met) rs1561697488
NM_004415.4(DSP):c.3497A>G (p.Glu1166Gly) rs2113691892
NM_004415.4(DSP):c.3499_3501del (p.Lys1167del) rs1554108091
NM_004415.4(DSP):c.3504G>T (p.Glu1168Asp) rs1490403808
NM_004415.4(DSP):c.3505T>A (p.Tyr1169Asn) rs2113691917
NM_004415.4(DSP):c.3508G>A (p.Glu1170Lys) rs139582608
NM_004415.4(DSP):c.3508G>C (p.Glu1170Gln)
NM_004415.4(DSP):c.350A>G (p.Gln117Arg)
NM_004415.4(DSP):c.3518G>T (p.Arg1173Met)
NM_004415.4(DSP):c.3524G>A (p.Arg1175Lys) rs1759357066
NM_004415.4(DSP):c.3526G>A (p.Val1176Ile)
NM_004415.4(DSP):c.3527T>C (p.Val1176Ala) rs1759357469
NM_004415.4(DSP):c.3538G>A (p.Glu1180Lys)
NM_004415.4(DSP):c.3548C>T (p.Thr1183Ile)
NM_004415.4(DSP):c.3555G>C (p.Lys1185Asn)
NM_004415.4(DSP):c.3559G>A (p.Glu1187Lys) rs1759359375
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys) rs866149042
NM_004415.4(DSP):c.3573G>T (p.Glu1191Asp) rs750659892
NM_004415.4(DSP):c.3574C>G (p.Leu1192Val) rs1554108118
NM_004415.4(DSP):c.3578C>A (p.Ala1193Glu)
NM_004415.4(DSP):c.3596A>G (p.Tyr1199Cys)
NM_004415.4(DSP):c.35A>G (p.Asn12Ser) rs1239489755
NM_004415.4(DSP):c.3608T>C (p.Met1203Thr)
NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly) rs1759361326
NM_004415.4(DSP):c.3616T>G (p.Leu1206Val) rs151115778
NM_004415.4(DSP):c.3629A>G (p.Tyr1210Cys)
NM_004415.4(DSP):c.3680A>C (p.Gln1227Pro) rs1458557680
NM_004415.4(DSP):c.3684A>T (p.Lys1228Asn)
NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup) rs1561697838
NM_004415.4(DSP):c.3692A>C (p.Asp1231Ala) rs1581816117
NM_004415.4(DSP):c.3712C>A (p.Gln1238Lys) rs767519046
NM_004415.4(DSP):c.3712C>G (p.Gln1238Glu) rs767519046
NM_004415.4(DSP):c.3720T>A (p.Asp1240Glu) rs1759365530
NM_004415.4(DSP):c.3730A>G (p.Arg1244Gly) rs2113692494
NM_004415.4(DSP):c.3742G>C (p.Asp1248His) rs989348634
NM_004415.4(DSP):c.3763A>G (p.Arg1255Gly) rs1477870659
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) rs777407386
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser) rs1561697968
NM_004415.4(DSP):c.3775A>G (p.Ser1259Gly) rs770172294
NM_004415.4(DSP):c.3778A>T (p.Ile1260Phe)
NM_004415.4(DSP):c.3788C>A (p.Ala1263Asp) rs1359308406
NM_004415.4(DSP):c.3788C>T (p.Ala1263Val)
NM_004415.4(DSP):c.3794A>G (p.Glu1265Gly)
NM_004415.4(DSP):c.37A>G (p.Thr13Ala)
NM_004415.4(DSP):c.3811G>A (p.Glu1271Lys) rs2113692719
NM_004415.4(DSP):c.3815A>G (p.Glu1272Gly)
NM_004415.4(DSP):c.3820G>C (p.Ala1274Pro) rs1285435504
NM_004415.4(DSP):c.3820G>T (p.Ala1274Ser) rs1285435504
NM_004415.4(DSP):c.3842G>A (p.Gly1281Asp) rs757029634
NM_004415.4(DSP):c.3845C>T (p.Ser1282Phe) rs778780656
NM_004415.4(DSP):c.3854T>G (p.Met1285Arg) rs1759372184
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn) rs768166626
NM_004415.4(DSP):c.3880G>A (p.Glu1294Lys)
NM_004415.4(DSP):c.3896T>C (p.Met1299Thr) rs1432542467
NM_004415.4(DSP):c.3897G>C (p.Met1299Ile) rs2113692906
NM_004415.4(DSP):c.389A>G (p.Gln130Arg)
NM_004415.4(DSP):c.3902A>T (p.Gln1301Leu) rs2113692916
NM_004415.4(DSP):c.3919_3920delinsTT (p.Ala1307Phe)
NM_004415.4(DSP):c.3923G>T (p.Arg1308Leu) rs184154918
NM_004415.4(DSP):c.3932A>C (p.Gln1311Pro)
NM_004415.4(DSP):c.3934T>C (p.Ser1312Pro)
NM_004415.4(DSP):c.394G>A (p.Gly132Ser) rs1064796573
NM_004415.4(DSP):c.3953A>G (p.Lys1318Arg)
NM_004415.4(DSP):c.3958A>G (p.Ile1320Val)
NM_004415.4(DSP):c.3964G>A (p.Asp1322Asn) rs1759376700
NM_004415.4(DSP):c.3971A>G (p.Asn1324Ser)
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
NM_004415.4(DSP):c.3982G>C (p.Glu1328Gln) rs746208168
NM_004415.4(DSP):c.3997G>A (p.Glu1333Lys) rs2113693124
NM_004415.4(DSP):c.4002T>G (p.Phe1334Leu) rs1759378577
NM_004415.4(DSP):c.4013C>A (p.Ala1338Asp) rs2113693177
NM_004415.4(DSP):c.4016A>G (p.Lys1339Arg) rs1759379431
NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala) rs201964660
NM_004415.4(DSP):c.4034A>G (p.Glu1345Gly) rs201964660
NM_004415.4(DSP):c.4042C>G (p.Leu1348Val)
NM_004415.4(DSP):c.4055G>A (p.Arg1352Lys) rs757808893
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del) rs777457799
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp) rs569786610
NM_004415.4(DSP):c.4072G>A (p.Glu1358Lys)
NM_004415.4(DSP):c.4077C>G (p.Ile1359Met)
NM_004415.4(DSP):c.4090A>C (p.Asn1364His)
NM_004415.4(DSP):c.4099G>A (p.Glu1367Lys) rs1759383897
NM_004415.4(DSP):c.4107_4108delinsTG (p.Glu1369_Ile1370delinsAspVal) rs1759384287
NM_004415.4(DSP):c.4109T>A (p.Ile1370Asn) rs1759384359
NM_004415.4(DSP):c.4130T>A (p.Ile1377Asn) rs1215591946
NM_004415.4(DSP):c.4145T>C (p.Met1382Thr)
NM_004415.4(DSP):c.416A>T (p.Gln139Leu) rs1385183881
NM_004415.4(DSP):c.4172A>C (p.Tyr1391Ser) rs727504547
NM_004415.4(DSP):c.418A>G (p.Lys140Glu)
NM_004415.4(DSP):c.4195A>G (p.Thr1399Ala) rs1561698547
NM_004415.4(DSP):c.4202A>T (p.Glu1401Val) rs1759389046
NM_004415.4(DSP):c.4204A>G (p.Asn1402Asp)
NM_004415.4(DSP):c.4216T>C (p.Ser1406Pro)
NM_004415.4(DSP):c.422+3A>G rs1758564707
NM_004415.4(DSP):c.4226_4228del (p.Ile1409del) rs746639284
NM_004415.4(DSP):c.422G>A (p.Arg141Lys)
NM_004415.4(DSP):c.422G>C (p.Arg141Thr) rs969373062
NM_004415.4(DSP):c.423-6T>G
NM_004415.4(DSP):c.4233G>T (p.Arg1411Ser) rs771721410
NM_004415.4(DSP):c.423G>T (p.Arg141Ser)
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys) rs769965019
NM_004415.4(DSP):c.4267C>A (p.Leu1423Ile)
NM_004415.4(DSP):c.4276G>A (p.Val1426Met) rs1759393186
NM_004415.4(DSP):c.4289T>C (p.Ile1430Thr)
NM_004415.4(DSP):c.428T>C (p.Leu143Pro) rs746545985
NM_004415.4(DSP):c.4293A>T (p.Gln1431His)
NM_004415.4(DSP):c.4304C>T (p.Ala1435Val) rs1164622831
NM_004415.4(DSP):c.4337A>G (p.Gln1446Arg)
NM_004415.4(DSP):c.4351C>G (p.Leu1451Val)
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro) rs1554108296
NM_004415.4(DSP):c.4360G>A (p.Val1454Ile)
NM_004415.4(DSP):c.4369A>T (p.Met1457Leu)
NM_004415.4(DSP):c.4371G>C (p.Met1457Ile) rs1169630255
NM_004415.4(DSP):c.4379A>G (p.Glu1460Gly) rs1759396646
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_004415.4(DSP):c.4396A>G (p.Lys1466Glu) rs1561698838
NM_004415.4(DSP):c.439G>C (p.Glu147Gln)
NM_004415.4(DSP):c.4409A>G (p.Asp1470Gly)
NM_004415.4(DSP):c.4415C>A (p.Ala1472Asp) rs1272181488
NM_004415.4(DSP):c.4415C>T (p.Ala1472Val)
NM_004415.4(DSP):c.441G>C (p.Glu147Asp)
NM_004415.4(DSP):c.4426A>G (p.Ile1476Val)
NM_004415.4(DSP):c.4445A>C (p.Glu1482Ala)
NM_004415.4(DSP):c.4449A>G (p.Ile1483Met) rs1308817559
NM_004415.4(DSP):c.4451A>G (p.Glu1484Gly)
NM_004415.4(DSP):c.4468A>G (p.Ile1490Val)
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly) rs397516938
NM_004415.4(DSP):c.44G>A (p.Gly15Asp) rs1265161836
NM_004415.4(DSP):c.4501G>A (p.Glu1501Lys)
NM_004415.4(DSP):c.4502A>G (p.Glu1501Gly) rs1759403946
NM_004415.4(DSP):c.4514C>A (p.Ala1505Glu)
NM_004415.4(DSP):c.4521A>T (p.Leu1507Phe) rs1060500611
NM_004415.4(DSP):c.4523A>G (p.Gln1508Arg) rs1759404972
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) rs397516939
NM_004415.4(DSP):c.4532A>G (p.Gln1511Arg)
NM_004415.4(DSP):c.4533G>C (p.Gln1511His) rs2113694339
NM_004415.4(DSP):c.4539C>A (p.Asp1513Glu) rs1759406088
NM_004415.4(DSP):c.4552A>G (p.Asn1518Asp)
NM_004415.4(DSP):c.4564A>T (p.Thr1522Ser) rs1759406838
NM_004415.4(DSP):c.4571C>A (p.Thr1524Lys) rs397516941
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.458A>G (p.Tyr153Cys) rs1758601898
NM_004415.4(DSP):c.4593G>C (p.Gln1531His)
NM_004415.4(DSP):c.4595A>G (p.Glu1532Gly) rs1759408509
NM_004415.4(DSP):c.4625A>C (p.Tyr1542Ser)
NM_004415.4(DSP):c.4628A>G (p.Glu1543Gly)
NM_004415.4(DSP):c.4629A>C (p.Glu1543Asp) rs1759410036
NM_004415.4(DSP):c.4647G>C (p.Arg1549Ser) rs2113694603
NM_004415.4(DSP):c.4648A>G (p.Thr1550Ala) rs375917565
NM_004415.4(DSP):c.4649C>G (p.Thr1550Ser) rs928167721
NM_004415.4(DSP):c.466A>C (p.Ile156Leu)
NM_004415.4(DSP):c.4672C>T (p.Arg1558Trp)
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.4683C>G (p.Asn1561Lys)
NM_004415.4(DSP):c.4685C>G (p.Ser1562Cys)
NM_004415.4(DSP):c.4712A>C (p.Gln1571Pro)
NM_004415.4(DSP):c.4750G>T (p.Ala1584Ser) rs191778417
NM_004415.4(DSP):c.4751C>T (p.Ala1584Val)
NM_004415.4(DSP):c.475C>T (p.Pro159Ser) rs1758602932
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del) rs1010996982
NM_004415.4(DSP):c.4766G>T (p.Cys1589Phe)
NM_004415.4(DSP):c.4769A>G (p.Lys1590Arg) rs2113694864
NM_004415.4(DSP):c.476C>G (p.Pro159Arg)
NM_004415.4(DSP):c.4780C>G (p.Leu1594Val) rs149463707
NM_004415.4(DSP):c.4786G>A (p.Glu1596Lys)
NM_004415.4(DSP):c.4820A>G (p.Glu1607Gly) rs1364445729
NM_004415.4(DSP):c.4826C>A (p.Ala1609Asp)
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr) rs1581818435
NM_004415.4(DSP):c.4837A>T (p.Thr1613Ser)
NM_004415.4(DSP):c.4847C>T (p.Thr1616Ile) rs1759419853
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys) rs908086952
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
NM_004415.4(DSP):c.4886G>A (p.Ser1629Asn)
NM_004415.4(DSP):c.4888G>A (p.Glu1630Lys) rs2113695154
NM_004415.4(DSP):c.4893T>G (p.Asp1631Glu) rs775633446
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn) rs747279731
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp) rs973569441
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu) rs144106775
NM_004415.4(DSP):c.4916T>C (p.Val1639Ala)
NM_004415.4(DSP):c.4946G>A (p.Arg1649Lys) rs2113695278
NM_004415.4(DSP):c.4948A>G (p.Thr1650Ala) rs2113695282
NM_004415.4(DSP):c.494G>A (p.Ser165Asn)
NM_004415.4(DSP):c.4954G>C (p.Glu1652Gln) rs267601119
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.4(DSP):c.497C>T (p.Ser166Phe) rs1060500620
NM_004415.4(DSP):c.4999C>A (p.Gln1667Lys)
NM_004415.4(DSP):c.5006T>C (p.Leu1669Pro) rs776712810
NM_004415.4(DSP):c.5037C>G (p.His1679Gln)
NM_004415.4(DSP):c.505G>A (p.Gly169Ser) rs1184706017
NM_004415.4(DSP):c.5065A>C (p.Ile1689Leu) rs1043797322
NM_004415.4(DSP):c.506G>A (p.Gly169Asp) rs1758605175
NM_004415.4(DSP):c.5075_5080del (p.Lys1692_Ser1693del)
NM_004415.4(DSP):c.5090A>T (p.Asn1697Ile) rs2113695564
NM_004415.4(DSP):c.50T>C (p.Met17Thr) rs559248100
NM_004415.4(DSP):c.5101A>G (p.Ile1701Val) rs794728154
NM_004415.4(DSP):c.5107A>G (p.Ile1703Val) rs868035157
NM_004415.4(DSP):c.5108T>A (p.Ile1703Asn) rs794728123
NM_004415.4(DSP):c.5110G>A (p.Glu1704Lys) rs1312263432
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys) rs372452104
NM_004415.4(DSP):c.512_513delinsAA (p.Gly171Glu) rs1758605814
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5171T>C (p.Leu1724Pro) rs2113695726
NM_004415.4(DSP):c.5174G>A (p.Arg1725Gln) rs1759434677
NM_004415.4(DSP):c.5188G>A (p.Glu1730Lys) rs794727382
NM_004415.4(DSP):c.5212C>G (p.Arg1738Gly) rs794728124
NM_004415.4(DSP):c.5227A>G (p.Ser1743Gly) rs1759437499
NM_004415.4(DSP):c.5245A>G (p.Ile1749Val) rs1279085997
NM_004415.4(DSP):c.5249T>G (p.Leu1750Trp) rs1759438511
NM_004415.4(DSP):c.526A>G (p.Ser176Gly) rs1426245453
NM_004415.4(DSP):c.5283C>A (p.Asn1761Lys) rs763355815
NM_004415.4(DSP):c.5303G>T (p.Gly1768Val) rs2113696049
NM_004415.4(DSP):c.5305C>A (p.Leu1769Met) rs946445410
NM_004415.4(DSP):c.5308A>G (p.Ile1770Val) rs2113696065
NM_004415.4(DSP):c.5309T>C (p.Ile1770Thr)
NM_004415.4(DSP):c.5318T>C (p.Leu1773Ser) rs2113696090
NM_004415.4(DSP):c.5322G>C (p.Gln1774His)
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.4(DSP):c.535G>A (p.Gly179Ser) rs774829433
NM_004415.4(DSP):c.5363A>C (p.Gln1788Pro) rs139673146
NM_004415.4(DSP):c.5371G>A (p.Ala1791Thr) rs2113696199
NM_004415.4(DSP):c.5380-1G>C rs1759474600
NM_004415.4(DSP):c.5384C>A (p.Ser1795Tyr)
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe) rs768161038
NM_004415.4(DSP):c.5439G>C (p.Glu1813Asp) rs1759477469
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.5442C>A (p.Ser1814Arg) rs2113697874
NM_004415.4(DSP):c.5483G>C (p.Arg1828Thr)
NM_004415.4(DSP):c.5489A>T (p.Gln1830Leu)
NM_004415.4(DSP):c.5512C>T (p.Arg1838Cys) rs756481791
NM_004415.4(DSP):c.5513G>T (p.Arg1838Leu) rs377715841
NM_004415.4(DSP):c.5516C>T (p.Ala1839Val)
NM_004415.4(DSP):c.5521T>C (p.Ser1841Pro)
NM_004415.4(DSP):c.5538A>C (p.Glu1846Asp)
NM_004415.4(DSP):c.5548A>C (p.Lys1850Gln)
NM_004415.4(DSP):c.5555G>T (p.Arg1852Leu)
NM_004415.4(DSP):c.5560G>C (p.Glu1854Gln)
NM_004415.4(DSP):c.5563T>C (p.Cys1855Arg) rs1453126950
NM_004415.4(DSP):c.557A>G (p.His186Arg) rs1033990351
NM_004415.4(DSP):c.557A>T (p.His186Leu) rs1033990351
NM_004415.4(DSP):c.5584A>T (p.Asn1862Tyr) rs2113698216
NM_004415.4(DSP):c.5587G>A (p.Asp1863Asn)
NM_004415.4(DSP):c.5590C>A (p.Leu1864Met)
NM_004415.4(DSP):c.5609A>G (p.Gln1870Arg)
NM_004415.4(DSP):c.5618G>T (p.Arg1873Leu) rs776088292
NM_004415.4(DSP):c.5620A>G (p.Lys1874Glu)
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr) rs1581820615
NM_004415.4(DSP):c.5635A>G (p.Arg1879Gly) rs1759488201
NM_004415.4(DSP):c.5642T>C (p.Ile1881Thr) rs1192963820
NM_004415.4(DSP):c.5659A>G (p.Lys1887Glu)
NM_004415.4(DSP):c.5664T>A (p.Ser1888Arg)
NM_004415.4(DSP):c.5673GAA[1] (p.Lys1892del)
NM_004415.4(DSP):c.5674A>G (p.Lys1892Glu)
NM_004415.4(DSP):c.5678A>G (p.Asn1893Ser) rs2113698496
NM_004415.4(DSP):c.5680A>C (p.Ser1894Arg)
NM_004415.4(DSP):c.5681G>C (p.Ser1894Thr)
NM_004415.4(DSP):c.5683C>G (p.Leu1895Val) rs1159494439
NM_004415.4(DSP):c.5688_5690del (p.Arg1896del) rs1561701244
NM_004415.4(DSP):c.568G>A (p.Glu190Lys) rs1758608184
NM_004415.4(DSP):c.5697C>G (p.Ile1899Met)
NM_004415.4(DSP):c.56G>A (p.Arg19His) rs1757992558
NM_004415.4(DSP):c.5738G>C (p.Cys1913Ser) rs755250746
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys) rs1461028383
NM_004415.4(DSP):c.5765G>A (p.Arg1922Lys) rs1235630592
NM_004415.4(DSP):c.5767G>C (p.Glu1923Gln) rs397516948
NM_004415.4(DSP):c.576G>A (p.Leu192=) rs1758608540
NM_004415.4(DSP):c.576G>T (p.Leu192Phe) rs1758608540
NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg) rs794728126
NM_004415.4(DSP):c.5821A>G (p.Lys1941Glu) rs794728127
NM_004415.4(DSP):c.5828G>T (p.Arg1943Ile)
NM_004415.4(DSP):c.5869T>C (p.Cys1957Arg) rs2113698961
NM_004415.4(DSP):c.5874G>C (p.Glu1958Asp)
NM_004415.4(DSP):c.5887A>G (p.Thr1963Ala)
NM_004415.4(DSP):c.5896C>G (p.Leu1966Val) rs1554108700
NM_004415.4(DSP):c.5918A>G (p.Lys1973Arg) rs376397314
NM_004415.4(DSP):c.5920A>G (p.Lys1974Glu) rs1561701683
NM_004415.4(DSP):c.5922G>C (p.Lys1974Asn) rs193059393
NM_004415.4(DSP):c.5924T>C (p.Val1975Ala) rs1759505693
NM_004415.4(DSP):c.5942A>G (p.Tyr1981Cys) rs1085307622
NM_004415.4(DSP):c.596G>T (p.Arg199Met)
NM_004415.4(DSP):c.597+2_597+5dup rs765558005
NM_004415.4(DSP):c.597+4A>C
NM_004415.4(DSP):c.5978A>G (p.Lys1993Arg) rs1561701766
NM_004415.4(DSP):c.5G>C (p.Ser2Thr)
NM_004415.4(DSP):c.6010G>C (p.Val2004Leu)
NM_004415.4(DSP):c.6011T>C (p.Val2004Ala) rs1759511205
NM_004415.4(DSP):c.6013G>A (p.Ala2005Thr)
NM_004415.4(DSP):c.6041G>C (p.Gly2014Ala) rs1470983327
NM_004415.4(DSP):c.6046G>A (p.Gly2016Arg) rs1759513408
NM_004415.4(DSP):c.6067G>C (p.Ala2023Pro) rs776533737
NM_004415.4(DSP):c.6067G>T (p.Ala2023Ser) rs776533737
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser) rs1759514545
NM_004415.4(DSP):c.6088T>C (p.Ser2030Pro) rs1759514959
NM_004415.4(DSP):c.6089C>A (p.Ser2030Tyr) rs867842357
NM_004415.4(DSP):c.6104A>C (p.Lys2035Thr)
NM_004415.4(DSP):c.6106A>G (p.Arg2036Gly) rs2113699558
NM_004415.4(DSP):c.6118A>G (p.Ile2040Val)
NM_004415.4(DSP):c.612G>C (p.Met204Ile) rs1021314728
NM_004415.4(DSP):c.612G>T (p.Met204Ile)
NM_004415.4(DSP):c.6134C>G (p.Thr2045Arg) rs1759516546
NM_004415.4(DSP):c.6146T>G (p.Leu2049Arg) rs1759516965
NM_004415.4(DSP):c.6160G>A (p.Ala2054Thr) rs1759517531
NM_004415.4(DSP):c.616G>A (p.Ala206Thr) rs794728109
NM_004415.4(DSP):c.6179A>T (p.Asp2060Val)
NM_004415.4(DSP):c.6181C>T (p.Pro2061Ser) rs1561702055
NM_004415.4(DSP):c.6203C>G (p.Thr2068Ser)
NM_004415.4(DSP):c.6208G>C (p.Asp2070His)
NM_004415.4(DSP):c.620G>C (p.Trp207Ser) rs1445705079
NM_004415.4(DSP):c.6224G>T (p.Arg2075Leu)
NM_004415.4(DSP):c.6247C>G (p.Arg2083Gly) rs370093129
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val) rs876657796
NM_004415.4(DSP):c.6278T>C (p.Ile2093Thr)
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_004415.4(DSP):c.6328G>T (p.Ala2110Ser)
NM_004415.4(DSP):c.6353G>C (p.Arg2118Thr)
NM_004415.4(DSP):c.6361G>A (p.Gly2121Arg) rs368227724
NM_004415.4(DSP):c.6364A>G (p.Met2122Val)
NM_004415.4(DSP):c.6409C>A (p.Pro2137Thr) rs2113700303
NM_004415.4(DSP):c.6422T>G (p.Val2141Gly) rs1759532262
NM_004415.4(DSP):c.6454G>C (p.Gly2152Arg)
NM_004415.4(DSP):c.6460A>G (p.Ile2154Val)
NM_004415.4(DSP):c.6461T>C (p.Ile2154Thr) rs2113700418
NM_004415.4(DSP):c.6470A>G (p.Asp2157Gly) rs2113700447
NM_004415.4(DSP):c.6475T>C (p.Tyr2159His)
NM_004415.4(DSP):c.6485T>C (p.Leu2162Pro)
NM_004415.4(DSP):c.6494C>T (p.Pro2165Leu) rs1759535966
NM_004415.4(DSP):c.64T>C (p.Ser22Pro) rs2113628752
NM_004415.4(DSP):c.6505C>G (p.Gln2169Glu) rs1561702645
NM_004415.4(DSP):c.6512A>C (p.Asn2171Thr)
NM_004415.4(DSP):c.6526G>C (p.Val2176Leu) rs746533703
NM_004415.4(DSP):c.6530C>A (p.Thr2177Asn)
NM_004415.4(DSP):c.6545G>T (p.Ser2182Ile)
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His) rs763549172
NM_004415.4(DSP):c.6551T>A (p.Val2184Glu)
NM_004415.4(DSP):c.6569G>T (p.Cys2190Phe) rs1276738564
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala) rs2113700741
NM_004415.4(DSP):c.6595C>G (p.Leu2199Val)
NM_004415.4(DSP):c.65C>G (p.Ser22Cys)
NM_004415.4(DSP):c.6620G>C (p.Ser2207Thr)
NM_004415.4(DSP):c.663C>G (p.His221Gln) rs1561683654
NM_004415.4(DSP):c.665G>T (p.Arg222Leu)
NM_004415.4(DSP):c.6667G>A (p.Val2223Ile)
NM_004415.4(DSP):c.6701A>T (p.Asn2234Ile)
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys) rs374262024
NM_004415.4(DSP):c.6765G>T (p.Gln2255His) rs766183320
NM_004415.4(DSP):c.6769T>G (p.Ser2257Ala) rs1759547079
NM_004415.4(DSP):c.6776G>T (p.Cys2259Phe) rs754635738
NM_004415.4(DSP):c.6778A>G (p.Ile2260Val)
NM_004415.4(DSP):c.6818G>A (p.Gly2273Asp)
NM_004415.4(DSP):c.6826G>A (p.Glu2276Lys)
NM_004415.4(DSP):c.6827A>G (p.Glu2276Gly)
NM_004415.4(DSP):c.682A>G (p.Ile228Val) rs934038992
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr) rs377085222
NM_004415.4(DSP):c.6859A>G (p.Thr2287Ala)
NM_004415.4(DSP):c.685G>T (p.Gly229Cys)
NM_004415.4(DSP):c.6895G>A (p.Gly2299Ser) rs1561703092
NM_004415.4(DSP):c.6896G>C (p.Gly2299Ala)
NM_004415.4(DSP):c.6946T>C (p.Tyr2316His)
NM_004415.4(DSP):c.6950A>G (p.Lys2317Arg)
NM_004415.4(DSP):c.6955G>A (p.Gly2319Ser)
NM_004415.4(DSP):c.6967A>C (p.Ile2323Leu) rs1759554116
NM_004415.4(DSP):c.6974T>G (p.Phe2325Cys) rs1349503429
NM_004415.4(DSP):c.7009A>G (p.Thr2337Ala)
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) rs200314271
NM_004415.4(DSP):c.7031C>G (p.Thr2344Arg)
NM_004415.4(DSP):c.7034G>T (p.Gly2345Val)
NM_004415.4(DSP):c.7045T>C (p.Ser2349Pro)
NM_004415.4(DSP):c.7069G>C (p.Glu2357Gln)
NM_004415.4(DSP):c.7084G>A (p.Gly2362Ser)
NM_004415.4(DSP):c.7093A>G (p.Ile2365Val)
NM_004415.4(DSP):c.7105G>A (p.Glu2369Lys)
NM_004415.4(DSP):c.7120A>G (p.Thr2374Ala) rs1759559299
NM_004415.4(DSP):c.7129_7152del (p.Ile2377_His2384del) rs2113701695
NM_004415.4(DSP):c.7163T>C (p.Val2388Ala)
NM_004415.4(DSP):c.716A>G (p.Lys239Arg)
NM_004415.4(DSP):c.7179G>T (p.Lys2393Asn) rs1759561425
NM_004415.4(DSP):c.7183G>A (p.Gly2395Ser)
NM_004415.4(DSP):c.7186T>A (p.Tyr2396Asn) rs863225268
NM_004415.4(DSP):c.71C>T (p.Pro24Leu) rs978383808
NM_004415.4(DSP):c.7204A>G (p.Ser2402Gly)
NM_004415.4(DSP):c.7213C>T (p.Leu2405Phe) rs774401264
NM_004415.4(DSP):c.7223C>A (p.Pro2408Gln) rs2113701876
NM_004415.4(DSP):c.7246T>C (p.Phe2416Leu) rs2113701908
NM_004415.4(DSP):c.7249G>A (p.Asp2417Asn)
NM_004415.4(DSP):c.726+5T>G
NM_004415.4(DSP):c.7268A>G (p.Asn2423Ser)
NM_004415.4(DSP):c.726G>A (p.Leu242=)
NM_004415.4(DSP):c.727C>T (p.Arg243Cys) rs1191710190
NM_004415.4(DSP):c.7284A>G (p.Gln2428=) rs1759565168
NM_004415.4(DSP):c.7290A>C (p.Lys2430Asn)
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn) rs1554108998
NM_004415.4(DSP):c.7322T>C (p.Leu2441Pro)
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe) rs864309585
NM_004415.4(DSP):c.7339A>G (p.Lys2447Glu) rs1759567175
NM_004415.4(DSP):c.7346A>C (p.Lys2449Thr) rs1581823888
NM_004415.4(DSP):c.7360C>G (p.Gln2454Glu) rs373890201
NM_004415.4(DSP):c.7370A>C (p.Gln2457Pro) rs1206306343
NM_004415.4(DSP):c.7372A>G (p.Lys2458Glu) rs1759568876
NM_004415.4(DSP):c.7381C>T (p.Leu2461Phe) rs201863784
NM_004415.4(DSP):c.7382T>A (p.Leu2461His)
NM_004415.4(DSP):c.7385G>A (p.Arg2462Lys)
NM_004415.4(DSP):c.73G>T (p.Asp25Tyr) rs2113628779
NM_004415.4(DSP):c.7418C>T (p.Thr2473Ile) rs1389902511
NM_004415.4(DSP):c.7420A>T (p.Asn2474Tyr)
NM_004415.4(DSP):c.7421A>G (p.Asn2474Ser) rs1759570598
NM_004415.4(DSP):c.742A>G (p.Ile248Val)
NM_004415.4(DSP):c.743T>C (p.Ile248Thr) rs1455602530
NM_004415.4(DSP):c.7456G>A (p.Gly2486Ser)
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val) rs138798656
NM_004415.4(DSP):c.7480A>G (p.Lys2494Glu)
NM_004415.4(DSP):c.7481A>G (p.Lys2494Arg)
NM_004415.4(DSP):c.7499A>G (p.Glu2500Gly)
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del) rs1473818298
NM_004415.4(DSP):c.7526C>T (p.Thr2509Met)
NM_004415.4(DSP):c.7528G>A (p.Gly2510Arg)
NM_004415.4(DSP):c.7534G>C (p.Asp2512His)
NM_004415.4(DSP):c.7541C>T (p.Ser2514Phe)
NM_004415.4(DSP):c.7543_7544delinsCGTGGTATCTGGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCCGTGGTAA (p.Thr2515delinsArgGlyIleTrpGluAlaTyrLysLysGlyLeuIleAspTyrGluThrPheLysGluLeuCysGluGlnGluCysGluTrpGluGluIleThrIleThrGlySerAspGlySerArgGlyAsn) rs2113702542
NM_004415.4(DSP):c.7579C>G (p.Gln2527Glu) rs2113702673
NM_004415.4(DSP):c.7582T>G (p.Tyr2528Asp) rs2113702680
NM_004415.4(DSP):c.7585G>A (p.Asp2529Asn) rs1759581655
NM_004415.4(DSP):c.7588A>G (p.Ile2530Val) rs397516958
NM_004415.4(DSP):c.7598C>G (p.Ala2533Gly)
NM_004415.4(DSP):c.7604A>G (p.Asp2535Gly) rs1759583033
NM_004415.4(DSP):c.7610G>A (p.Gly2537Asp)
NM_004415.4(DSP):c.7610G>T (p.Gly2537Val)
NM_004415.4(DSP):c.7618G>C (p.Asp2540His)
NM_004415.4(DSP):c.7619A>T (p.Asp2540Val)
NM_004415.4(DSP):c.7620C>A (p.Asp2540Glu) rs2113702817
NM_004415.4(DSP):c.762G>T (p.Glu254Asp) rs1406835654
NM_004415.4(DSP):c.7633G>T (p.Asp2545Tyr)
NM_004415.4(DSP):c.7635T>G (p.Asp2545Glu) rs1759584844
NM_004415.4(DSP):c.7636C>G (p.Gln2546Glu)
NM_004415.4(DSP):c.7642C>G (p.Arg2548Gly)
NM_004415.4(DSP):c.7646C>T (p.Ser2549Phe)
NM_004415.4(DSP):c.7657A>G (p.Ser2553Gly) rs769601021
NM_004415.4(DSP):c.7675G>A (p.Asp2559Asn) rs2113702999
NM_004415.4(DSP):c.7679T>C (p.Met2560Thr)
NM_004415.4(DSP):c.7685_7687del (p.Ser2562del) rs762495630
NM_004415.4(DSP):c.7689G>C (p.Leu2563Phe)
NM_004415.4(DSP):c.7689_7694dup (p.Lys2564_Asn2565insLysLys) rs1554109062
NM_004415.4(DSP):c.769A>G (p.Asn257Asp) rs1758773914
NM_004415.4(DSP):c.7706C>A (p.Thr2569Asn)
NM_004415.4(DSP):c.7708A>G (p.Ser2570Gly) rs1456123705
NM_004415.4(DSP):c.7716C>T (p.Ser2572=) rs773824736
NM_004415.4(DSP):c.7718T>C (p.Met2573Thr) rs1759589574
NM_004415.4(DSP):c.7735G>C (p.Asp2579His) rs750744914
NM_004415.4(DSP):c.7736A>T (p.Asp2579Val)
NM_004415.4(DSP):c.7754C>T (p.Ser2585Phe) rs1018344778
NM_004415.4(DSP):c.7756C>G (p.Arg2586Gly) rs1420689736
NM_004415.4(DSP):c.776T>C (p.Leu259Pro) rs1758774627
NM_004415.4(DSP):c.777+5G>A
NM_004415.4(DSP):c.778-11C>A
NM_004415.4(DSP):c.778-12C>T
NM_004415.4(DSP):c.778-4G>C rs1296932263
NM_004415.4(DSP):c.778-6G>A
NM_004415.4(DSP):c.781G>A (p.Ala261Thr) rs967465931
NM_004415.4(DSP):c.7820G>T (p.Ser2607Ile)
NM_004415.4(DSP):c.7823C>A (p.Ser2608Tyr) rs777066674
NM_004415.4(DSP):c.7832A>T (p.Asp2611Val)
NM_004415.4(DSP):c.7837C>G (p.Leu2613Val) rs1286275087
NM_004415.4(DSP):c.7845A>C (p.Glu2615Asp) rs1367058874
NM_004415.4(DSP):c.7861G>A (p.Ala2621Thr) rs1554109107
NM_004415.4(DSP):c.7868T>G (p.Phe2623Cys)
NM_004415.4(DSP):c.7886A>G (p.Glu2629Gly)
NM_004415.4(DSP):c.7894T>C (p.Ser2632Pro)
NM_004415.4(DSP):c.7907G>A (p.Gly2636Asp) rs1759605211
NM_004415.4(DSP):c.7909A>G (p.Ile2637Val) rs1759605309
NM_004415.4(DSP):c.7911A>G (p.Ile2637Met) rs2113703589
NM_004415.4(DSP):c.7920C>T (p.Gly2640=)
NM_004415.4(DSP):c.7927G>A (p.Asp2643Asn)
NM_004415.4(DSP):c.7942C>G (p.Gln2648Glu) rs2113703697
NM_004415.4(DSP):c.795G>C (p.Arg265Ser)
NM_004415.4(DSP):c.796A>C (p.Met266Leu) rs1758827543
NM_004415.4(DSP):c.7987C>G (p.Pro2663Ala)
NM_004415.4(DSP):c.7991C>A (p.Thr2664Asn) rs1759611499
NM_004415.4(DSP):c.8000A>G (p.Gln2667Arg)
NM_004415.4(DSP):c.801T>A (p.Asp267Glu)
NM_004415.4(DSP):c.8052G>A (p.Met2684Ile) rs1408242511
NM_004415.4(DSP):c.8071G>C (p.Ala2691Pro) rs1006955897
NM_004415.4(DSP):c.8084T>G (p.Phe2695Cys) rs764994940
NM_004415.4(DSP):c.8085C>A (p.Phe2695Leu) rs1759617585
NM_004415.4(DSP):c.8093T>C (p.Phe2698Ser) rs1759618009
NM_004415.4(DSP):c.8101G>A (p.Val2701Met) rs1561704928
NM_004415.4(DSP):c.8121G>T (p.Met2707Ile) rs2113704161
NM_004415.4(DSP):c.8122T>A (p.Ser2708Thr) rs924262414
NM_004415.4(DSP):c.8138T>G (p.Val2713Gly) rs1759621076
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg) rs1554109176
NM_004415.4(DSP):c.8152C>G (p.Leu2718Val)
NM_004415.4(DSP):c.8159A>G (p.Tyr2720Cys) rs367972703
NM_004415.4(DSP):c.8165C>G (p.Ala2722Gly)
NM_004415.4(DSP):c.8171A>G (p.Gln2724Arg) rs1759623133
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004415.4(DSP):c.8195T>G (p.Leu2732Arg)
NM_004415.4(DSP):c.8197A>C (p.Thr2733Pro)
NM_004415.4(DSP):c.8201G>A (p.Gly2734Glu) rs1561705241
NM_004415.4(DSP):c.8207T>A (p.Leu2736His) rs1759625908
NM_004415.4(DSP):c.8216C>G (p.Pro2739Arg) rs761527198
NM_004415.4(DSP):c.8218G>C (p.Glu2740Gln)
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly) rs1198357388
NM_004415.4(DSP):c.8242G>A (p.Glu2748Lys)
NM_004415.4(DSP):c.8249C>T (p.Ala2750Val)
NM_004415.4(DSP):c.8252T>C (p.Ile2751Thr)
NM_004415.4(DSP):c.8252T>G (p.Ile2751Ser)
NM_004415.4(DSP):c.8255G>C (p.Arg2752Pro) rs769706539
NM_004415.4(DSP):c.8257A>C (p.Lys2753Gln) rs1554109205
NM_004415.4(DSP):c.8272G>A (p.Gly2758Ser)
NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys) rs148254632
NM_004415.4(DSP):c.8276G>A (p.Arg2759His) rs936541705
NM_004415.4(DSP):c.8284C>T (p.Gln2762Ter) rs376703565
NM_004415.4(DSP):c.8288G>A (p.Arg2763Lys)
NM_004415.4(DSP):c.8291_8292insTGCT (p.Gln2765fs) rs756925801
NM_004415.4(DSP):c.8296G>A (p.Asp2766Asn) rs1759633378
NM_004415.4(DSP):c.8299A>G (p.Thr2767Ala) rs1304137526
NM_004415.4(DSP):c.8300C>G (p.Thr2767Ser)
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.8304C>G (p.Ser2768Arg)
NM_004415.4(DSP):c.8316A>C (p.Lys2772Asn)
NM_004415.4(DSP):c.8319C>G (p.Ile2773Met)
NM_004415.4(DSP):c.8319_8341del (p.Leu2774fs) rs2113704840
NM_004415.4(DSP):c.8330C>T (p.Pro2777Leu)
NM_004415.4(DSP):c.8342T>C (p.Leu2781Ser)
NM_004415.4(DSP):c.8346A>T (p.Lys2782Asn)
NM_004415.4(DSP):c.8363C>T (p.Ala2788Val) rs748307773
NM_004415.4(DSP):c.836C>T (p.Thr279Met) rs1758829264
NM_004415.4(DSP):c.8371C>G (p.Arg2791Gly) rs867430601
NM_004415.4(DSP):c.8371C>T (p.Arg2791Cys) rs867430601
NM_004415.4(DSP):c.8386G>A (p.Asp2796Asn)
NM_004415.4(DSP):c.8386G>C (p.Asp2796His)
NM_004415.4(DSP):c.8387A>G (p.Asp2796Gly)
NM_004415.4(DSP):c.8387A>T (p.Asp2796Val) rs888716643
NM_004415.4(DSP):c.8390del (p.Ile2797fs)
NM_004415.4(DSP):c.8392A>T (p.Thr2798Ser) rs771976131
NM_004415.4(DSP):c.8396G>C (p.Gly2799Ala)
NM_004415.4(DSP):c.8401C>T (p.Arg2801Cys) rs760215987
NM_004415.4(DSP):c.8414C>G (p.Ala2805Gly)
NM_004415.4(DSP):c.8417C>T (p.Ala2806Val)
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
NM_004415.4(DSP):c.8438T>C (p.Leu2813Ser)
NM_004415.4(DSP):c.8440C>A (p.Pro2814Thr) rs1303168294
NM_004415.4(DSP):c.8442dup (p.Ser2815fs) rs1554109247
NM_004415.4(DSP):c.8450A>G (p.Tyr2817Cys)
NM_004415.4(DSP):c.8450ACA[1] (p.Asn2818del)
NM_004415.4(DSP):c.8455A>G (p.Met2819Val) rs138329459
NM_004415.4(DSP):c.8462_8463del (p.Ser2821fs) rs2113705206
NM_004415.4(DSP):c.8468C>T (p.Pro2823Leu) rs1404710139
NM_004415.4(DSP):c.8469_8487del (p.Gly2824fs) rs2113705210
NM_004415.4(DSP):c.8471_8483del (p.Gly2824fs) rs1759642975
NM_004415.4(DSP):c.8472_8495del (p.2827SGSR[3]) rs1267022420
NM_004415.4(DSP):c.8476C>A (p.Arg2826Ser) rs139969658
NM_004415.4(DSP):c.8480C>T (p.Ser2827Phe) rs746773800
NM_004415.4(DSP):c.8482G>C (p.Gly2828Arg) rs369682599
NM_004415.4(DSP):c.8484_8507del (p.2827SGSR[3])
NM_004415.4(DSP):c.8486C>G (p.Ser2829Cys) rs2113705415
NM_004415.4(DSP):c.8488C>A (p.Arg2830Ser) rs1354218745
NM_004415.4(DSP):c.8488C>T (p.Arg2830Cys) rs1354218745
NM_004415.4(DSP):c.848T>G (p.Ile283Ser)
NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6]) rs748194022
NM_004415.4(DSP):c.8493_8516del (p.2827_2830SGSR[3]) rs1554109280
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[3] (p.2827SGSR[6]) rs397516971
NM_004415.4(DSP):c.8496_8500dup (p.Arg2834fs)
NM_004415.4(DSP):c.8506G>A (p.Gly2836Arg)
NM_004415.4(DSP):c.8513G>A (p.Arg2838His) rs930055191
NM_004415.4(DSP):c.8516C>T (p.Ser2839Phe) rs750438076
NM_004415.4(DSP):c.8524C>G (p.Arg2842Gly)
NM_004415.4(DSP):c.8525G>A (p.Arg2842His)
NM_004415.4(DSP):c.852G>A (p.Met284Ile) rs794728110
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) rs374137476
NM_004415.4(DSP):c.8536C>T (p.Arg2846Trp)
NM_004415.4(DSP):c.8552A>G (p.Asp2851Gly)
NM_004415.4(DSP):c.8573A>G (p.Tyr2858Cys) rs1759654706
NM_004415.4(DSP):c.8577_8588del (p.2858YS[1]) rs2113705755
NM_004415.4(DSP):c.8579A>G (p.Tyr2860Cys)
NM_004415.4(DSP):c.8583del (p.Tyr2862fs) rs765683790
NM_004415.4(DSP):c.8588C>T (p.Ser2863Leu)
NM_004415.4(DSP):c.8596AGT[1] (p.Ser2868del)
NM_004415.4(DSP):c.859A>C (p.Asn287His) rs1554106503
NM_004415.4(DSP):c.8602T>A (p.Ser2868Thr) rs1554109346
NM_004415.4(DSP):c.860A>C (p.Asn287Thr)
NM_004415.4(DSP):c.865T>C (p.Cys289Arg)
NM_004415.4(DSP):c.868G>A (p.Glu290Lys) rs397516974
NM_004415.4(DSP):c.868GAG[5] (p.Glu293dup) rs1561685368
NM_004415.4(DSP):c.889G>C (p.Asp297His) rs201930322
NM_004415.4(DSP):c.889G>T (p.Asp297Tyr) rs201930322
NM_004415.4(DSP):c.892T>G (p.Trp298Gly)
NM_004415.4(DSP):c.8G>A (p.Cys3Tyr) rs760993985
NM_004415.4(DSP):c.905A>T (p.Asn302Ile)
NM_004415.4(DSP):c.910A>C (p.Asn304His) rs2113669485
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004415.4(DSP):c.922A>C (p.Lys308Gln) rs1060500617
NM_004415.4(DSP):c.931G>C (p.Ala311Pro)
NM_004415.4(DSP):c.935_937del (p.Phe312del) rs794728138
NM_004415.4(DSP):c.939+2_939+3insCC rs2113669596
NM_004415.4(DSP):c.939+4A>C
NM_004415.4(DSP):c.940-7T>G rs1368622056
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)
NM_004415.4(DSP):c.944_945delinsAA (p.Arg315Gln)
NM_004415.4(DSP):c.94A>G (p.Ser32Gly) rs2113628871
NM_004415.4(DSP):c.950G>C (p.Ser317Thr)
NM_004415.4(DSP):c.954A>C (p.Gln318His) rs1023875624
NM_004415.4(DSP):c.955C>G (p.Leu319Val) rs777852039
NM_004415.4(DSP):c.956T>C (p.Leu319Pro)
NM_004415.4(DSP):c.962T>A (p.Val321Asp)
NM_004415.4(DSP):c.968A>G (p.Glu323Gly) rs1064795408
NM_004415.4(DSP):c.969_974del (p.322KE[1])
NM_004415.4(DSP):c.97G>A (p.Gly33Ser) rs1581777550
NM_004415.4(DSP):c.986T>C (p.Leu329Pro)
NM_004415.4(DSP):c.992A>C (p.Gln331Pro) rs746517026
NM_004415.4(DSP):c.998G>C (p.Ser333Thr) rs749695729
NM_006073.4(TRDN):c.1006A>G (p.Lys336Glu)
NM_006073.4(TRDN):c.1034T>C (p.Ile345Thr) rs1459890032
NM_006073.4(TRDN):c.1042G>C (p.Glu348Gln)
NM_006073.4(TRDN):c.1051+1G>A rs535908547
NM_006073.4(TRDN):c.1051+1G>T rs535908547
NM_006073.4(TRDN):c.1051+3A>T rs2114593121
NM_006073.4(TRDN):c.1051+6G>T
NM_006073.4(TRDN):c.1052-9C>A rs765883002
NM_006073.4(TRDN):c.1055C>A (p.Pro352Gln) rs754708708
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu) rs754708708
NM_006073.4(TRDN):c.1058G>A (p.Gly353Glu) rs1230466120
NM_006073.4(TRDN):c.1087G>A (p.Val363Ile)
NM_006073.4(TRDN):c.1098_1099inv (p.Ala367Ser)
NM_006073.4(TRDN):c.1105+1del rs1772598763
NM_006073.4(TRDN):c.1105G>T (p.Ala369Ser) rs369198088
NM_006073.4(TRDN):c.1132G>A (p.Glu378Lys) rs1330602239
NM_006073.4(TRDN):c.1133A>G (p.Glu378Gly) rs2114443570
NM_006073.4(TRDN):c.1136-2_1136-1delinsTA
NM_006073.4(TRDN):c.1144A>G (p.Lys382Glu) rs1781747004
NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu) rs1159691201
NM_006073.4(TRDN):c.1166-1G>A rs1298986609
NM_006073.4(TRDN):c.1175C>T (p.Pro392Leu) rs1364039811
NM_006073.4(TRDN):c.1188A>C (p.Lys396Asn) rs6901953
NM_006073.4(TRDN):c.119T>C (p.Ile40Thr)
NM_006073.4(TRDN):c.1208A>C (p.His403Pro)
NM_006073.4(TRDN):c.1218A>T (p.Pro406=)
NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr) rs2114402336
NM_006073.4(TRDN):c.1229C>A (p.Pro410Gln)
NM_006073.4(TRDN):c.1257C>G (p.Asp419Glu) rs17737379
NM_006073.4(TRDN):c.1259A>G (p.Lys420Arg)
NM_006073.4(TRDN):c.1273+5G>A
NM_006073.4(TRDN):c.1274-8A>G
NM_006073.4(TRDN):c.1276A>G (p.Thr426Ala) rs1040336692
NM_006073.4(TRDN):c.1292_1293del (p.Glu431fs) rs1582923790
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del) rs765757457
NM_006073.4(TRDN):c.1301G>C (p.Gly434Ala) rs2114357967
NM_006073.4(TRDN):c.1304C>A (p.Ala435Glu) rs370712881
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val) rs370712881
NM_006073.4(TRDN):c.1313_1314delinsGC (p.Ile438Ser) rs1562280050
NM_006073.4(TRDN):c.1321+1G>T
NM_006073.4(TRDN):c.1321+1del rs754982716
NM_006073.4(TRDN):c.1328C>T (p.Pro443Leu) rs2114299923
NM_006073.4(TRDN):c.1340A>G (p.Glu447Gly) rs1488176228
NM_006073.4(TRDN):c.1369+2del
NM_006073.4(TRDN):c.1370-11_1370-10delinsAC rs1060502113
NM_006073.4(TRDN):c.1370-15T>A
NM_006073.4(TRDN):c.1370A>G (p.Glu457Gly) rs1275202498
NM_006073.4(TRDN):c.1373T>C (p.Ile458Thr) rs1216864060
NM_006073.4(TRDN):c.1375A>T (p.Arg459Ter) rs1562267979
NM_006073.4(TRDN):c.1405A>G (p.Ile469Val)
NM_006073.4(TRDN):c.1416T>G (p.Asp472Glu) rs1464407707
NM_006073.4(TRDN):c.1426A>G (p.Ile476Val)
NM_006073.4(TRDN):c.1427T>C (p.Ile476Thr) rs1582882357
NM_006073.4(TRDN):c.1443G>C (p.Glu481Asp) rs2114727152
NM_006073.4(TRDN):c.1454C>T (p.Ala485Val) rs1001289198
NM_006073.4(TRDN):c.145G>C (p.Ala49Pro) rs1583264660
NM_006073.4(TRDN):c.1471G>C (p.Glu491Gln)
NM_006073.4(TRDN):c.1488del (p.Asp497fs)
NM_006073.4(TRDN):c.1492G>T (p.Glu498Ter) rs1779027425
NM_006073.4(TRDN):c.1499T>C (p.Met500Thr) rs1233338907
NM_006073.4(TRDN):c.1510+1G>C
NM_006073.4(TRDN):c.1510+5G>A rs1779025821
NM_006073.4(TRDN):c.1526C>G (p.Pro509Arg) rs1060502115
NM_006073.4(TRDN):c.1534C>T (p.Pro512Ser)
NM_006073.4(TRDN):c.1537C>T (p.Gln513Ter) rs757355311
NM_006073.4(TRDN):c.1538-7T>G rs1777452285
NM_006073.4(TRDN):c.1544A>G (p.Gln515Arg)
NM_006073.4(TRDN):c.1545A>C (p.Gln515His) rs1232728917
NM_006073.4(TRDN):c.1549A>G (p.Lys517Glu) rs2114626106
NM_006073.4(TRDN):c.1576A>G (p.Ile526Val) rs375091695
NM_006073.4(TRDN):c.1577T>G (p.Ile526Ser) rs771612991
NM_006073.4(TRDN):c.1579A>G (p.Lys527Glu) rs1192853066
NM_006073.4(TRDN):c.157G>A (p.Val53Ile)
NM_006073.4(TRDN):c.1580A>G (p.Lys527Arg)
NM_006073.4(TRDN):c.1600A>G (p.Ile534Val) rs1048725851
NM_006073.4(TRDN):c.1600_1602delinsT (p.Ile534fs) rs1777268262
NM_006073.4(TRDN):c.161T>C (p.Ile54Thr) rs1562396418
NM_006073.4(TRDN):c.1623C>T (p.His541=)
NM_006073.4(TRDN):c.1624+1G>C rs748011906
NM_006073.4(TRDN):c.1624+6T>A
NM_006073.4(TRDN):c.1625-3C>A
NM_006073.4(TRDN):c.1629A>G (p.Gln543=) rs2114615817
NM_006073.4(TRDN):c.1630G>A (p.Asp544Asn) rs1777254669
NM_006073.4(TRDN):c.1648A>G (p.Lys550Glu) rs1036032456
NM_006073.4(TRDN):c.164C>T (p.Ala55Val) rs1333255264
NM_006073.4(TRDN):c.1650G>A (p.Lys550=)
NM_006073.4(TRDN):c.1661A>C (p.His554Pro) rs1777253805
NM_006073.4(TRDN):c.1661A>G (p.His554Arg)
NM_006073.4(TRDN):c.1667A>G (p.Lys556Arg) rs1554219406
NM_006073.4(TRDN):c.1672+3A>G
NM_006073.4(TRDN):c.1672+6T>C
NM_006073.4(TRDN):c.167T>C (p.Leu56Pro) rs1060502116
NM_006073.4(TRDN):c.1684C>A (p.Leu562Ile) rs2114612744
NM_006073.4(TRDN):c.1691A>C (p.Gln564Pro) rs768555461
NM_006073.4(TRDN):c.1692G>A (p.Gln564=)
NM_006073.4(TRDN):c.1692G>C (p.Gln564His) rs747107207
NM_006073.4(TRDN):c.1693G>A (p.Val565Ile) rs565178454
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp) rs545470302
NM_006073.4(TRDN):c.1717dup (p.Thr573fs)
NM_006073.4(TRDN):c.1732C>T (p.Pro578Ser)
NM_006073.4(TRDN):c.1753C>T (p.Arg585Ter) rs754229275
NM_006073.4(TRDN):c.1762G>A (p.Glu588Lys)
NM_006073.4(TRDN):c.1768C>T (p.Pro590Ser) rs2114606785
NM_006073.4(TRDN):c.1794del (p.Lys598fs) rs1412913007
NM_006073.4(TRDN):c.1804+2T>C rs2114598453
NM_006073.4(TRDN):c.1804+6T>C
NM_006073.4(TRDN):c.1804A>T (p.Lys602Ter) rs2114598456
NM_006073.4(TRDN):c.1805-6_1805-4delinsT rs1776731846
NM_006073.4(TRDN):c.1806del (p.Gly603fs) rs1381728472
NM_006073.4(TRDN):c.1861G>T (p.Glu621Ter)
NM_006073.4(TRDN):c.1862A>G (p.Glu621Gly) rs1211286909
NM_006073.4(TRDN):c.1871-2A>G rs1483354092
NM_006073.4(TRDN):c.1871-9T>A rs1489256531
NM_006073.4(TRDN):c.1874A>C (p.Lys625Thr) rs1776539318
NM_006073.4(TRDN):c.1874A>G (p.Lys625Arg) rs1776539318
NM_006073.4(TRDN):c.1875dup (p.Ala626fs) rs780443277
NM_006073.4(TRDN):c.1881C>G (p.Asp627Glu) rs1776538992
NM_006073.4(TRDN):c.1897G>A (p.Glu633Lys) rs1776538236
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs) rs750469686
NM_006073.4(TRDN):c.1906+6T>C rs1562232511
NM_006073.4(TRDN):c.1906+6T>G rs1562232511
NM_006073.4(TRDN):c.1907-3C>T
NM_006073.4(TRDN):c.1907-6T>G
NM_006073.4(TRDN):c.1913C>G (p.Thr638Arg) rs1168548735
NM_006073.4(TRDN):c.1916_1918del (p.Arg639del)
NM_006073.4(TRDN):c.1921_1923del (p.Glu641del)
NM_006073.4(TRDN):c.1923_1924del (p.Leu643fs) rs781420323
NM_006073.4(TRDN):c.1938C>A (p.His646Gln) rs1582782548
NM_006073.4(TRDN):c.1952-1G>A rs2114570771
NM_006073.4(TRDN):c.1966A>G (p.Arg656Gly) rs1776405797
NM_006073.4(TRDN):c.196G>A (p.Val66Ile) rs372169818
NM_006073.4(TRDN):c.1975+14G>C
NM_006073.4(TRDN):c.1975+4del rs763953757
NM_006073.4(TRDN):c.1975+8C>A rs754046696
NM_006073.4(TRDN):c.1986A>T (p.Glu662Asp)
NM_006073.4(TRDN):c.1996G>A (p.Ala666Thr) rs748450167
NM_006073.4(TRDN):c.1996G>C (p.Ala666Pro) rs748450167
NM_006073.4(TRDN):c.1997C>A (p.Ala666Asp) rs878854816
NM_006073.4(TRDN):c.2011A>C (p.Lys671Gln) rs2114505384
NM_006073.4(TRDN):c.2014+6T>G rs2114505362
NM_006073.4(TRDN):c.2014G>A (p.Glu672Lys) rs2114505372
NM_006073.4(TRDN):c.2015-6C>A rs1244486423
NM_006073.4(TRDN):c.2030T>G (p.Val677Gly) rs1775146927
NM_006073.4(TRDN):c.2050+1G>A rs1295530677
NM_006073.4(TRDN):c.2050+2T>C rs758127975
NM_006073.4(TRDN):c.2072G>C (p.Cys691Ser) rs2114492427
NM_006073.4(TRDN):c.2090A>G (p.Tyr697Cys)
NM_006073.4(TRDN):c.2092A>G (p.Asn698Asp) rs777779916
NM_006073.4(TRDN):c.2096del (p.Gly699fs) rs772899515
NM_006073.4(TRDN):c.2108A>G (p.Gln703Arg) rs1390830578
NM_006073.4(TRDN):c.2109G>T (p.Gln703His)
NM_006073.4(TRDN):c.211G>A (p.Val71Met)
NM_006073.4(TRDN):c.2123C>T (p.Pro708Leu)
NM_006073.4(TRDN):c.2149_2150del (p.Gly717fs)
NM_006073.4(TRDN):c.214G>A (p.Asp72Asn) rs919863113
NM_006073.4(TRDN):c.2165C>T (p.Pro722Leu) rs2114492200
NM_006073.4(TRDN):c.2167G>A (p.Gly723Arg) rs2114492194
NM_006073.4(TRDN):c.2180A>G (p.Gln727Arg)
NM_006073.4(TRDN):c.2185C>G (p.Gln729Glu)
NM_006073.4(TRDN):c.226T>C (p.Phe76Leu) rs1782541809
NM_006073.4(TRDN):c.231A>G (p.Ser77=) rs2114537218
NM_006073.4(TRDN):c.232+6T>C rs747825904
NM_006073.4(TRDN):c.233-11A>G
NM_006073.4(TRDN):c.245C>T (p.Ala82Val)
NM_006073.4(TRDN):c.252T>G (p.Ile84Met)
NM_006073.4(TRDN):c.274G>T (p.Val92Leu) rs34808221
NM_006073.4(TRDN):c.277C>A (p.Arg93Ser)
NM_006073.4(TRDN):c.296C>G (p.Thr99Ser)
NM_006073.4(TRDN):c.29C>A (p.Ala10Glu)
NM_006073.4(TRDN):c.306G>T (p.Trp102Cys)
NM_006073.4(TRDN):c.307A>G (p.Ile103Val) rs535845814
NM_006073.4(TRDN):c.337ATC[1] (p.Ile114del) rs1781228259
NM_006073.4(TRDN):c.346T>A (p.Ser116Thr) rs768047321
NM_006073.4(TRDN):c.346T>C (p.Ser116Pro) rs768047321
NM_006073.4(TRDN):c.355G>A (p.Glu119Lys)
NM_006073.4(TRDN):c.356A>G (p.Glu119Gly) rs2114436566
NM_006073.4(TRDN):c.362ATG[2] (p.Asp123del) rs746889615
NM_006073.4(TRDN):c.391G>C (p.Gly131Arg) rs1245170587
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu) rs1242484153
NM_006073.4(TRDN):c.416G>A (p.Arg139Lys) rs1562379256
NM_006073.4(TRDN):c.41C>T (p.Thr14Ile) rs2114538213
NM_006073.4(TRDN):c.425-11T>G
NM_006073.4(TRDN):c.427A>C (p.Ile143Leu)
NM_006073.4(TRDN):c.432C>G (p.His144Gln)
NM_006073.4(TRDN):c.436G>T (p.Asp146Tyr) rs1780197036
NM_006073.4(TRDN):c.440A>G (p.Lys147Arg) rs2114339102
NM_006073.4(TRDN):c.445G>A (p.Glu149Lys) rs902398250
NM_006073.4(TRDN):c.44_49del (p.Thr15_Val16del) rs1271763031
NM_006073.4(TRDN):c.484+6C>T rs115773202
NM_006073.4(TRDN):c.488C>T (p.Thr163Ile)
NM_006073.4(TRDN):c.50T>C (p.Ile17Thr) rs1583264951
NM_006073.4(TRDN):c.515_520del (p.Glu172_Lys173del)
NM_006073.4(TRDN):c.526GAAAAA[1] (p.176EK[1]) rs1319934569
NM_006073.4(TRDN):c.542A>C (p.Glu181Ala)
NM_006073.4(TRDN):c.542A>T (p.Glu181Val)
NM_006073.4(TRDN):c.550G>A (p.Ala184Thr) rs576028226
NM_006073.4(TRDN):c.569T>A (p.Ile190Asn) rs1205195262
NM_006073.4(TRDN):c.587C>A (p.Pro196Gln)
NM_006073.4(TRDN):c.587C>T (p.Pro196Leu) rs1277590915
NM_006073.4(TRDN):c.604_610+47del rs1554251571
NM_006073.4(TRDN):c.611A>G (p.Glu204Gly)
NM_006073.4(TRDN):c.62A>C (p.Asn21Thr)
NM_006073.4(TRDN):c.655A>G (p.Lys219Glu) rs1562351485
NM_006073.4(TRDN):c.658A>T (p.Lys220Ter) rs2114833320
NM_006073.4(TRDN):c.659A>G (p.Lys220Arg)
NM_006073.4(TRDN):c.670G>A (p.Gly224Ser)
NM_006073.4(TRDN):c.712A>G (p.Lys238Glu)
NM_006073.4(TRDN):c.730C>A (p.Pro244Thr) rs2114833034
NM_006073.4(TRDN):c.742A>G (p.Lys248Glu) rs2114833012
NM_006073.4(TRDN):c.744del (p.Glu249fs)
NM_006073.4(TRDN):c.750G>T (p.Lys250Asn) rs138912040
NM_006073.4(TRDN):c.779A>G (p.Lys260Arg)
NM_006073.4(TRDN):c.790A>G (p.Lys264Glu) rs574484615
NM_006073.4(TRDN):c.795T>A (p.Asp265Glu)
NM_006073.4(TRDN):c.798G>C (p.Gln266His) rs1562347184
NM_006073.4(TRDN):c.802G>A (p.Ala268Thr) rs1223374508
NM_006073.4(TRDN):c.803C>T (p.Ala268Val) rs1465535140
NM_006073.4(TRDN):c.805T>G (p.Phe269Val)
NM_006073.4(TRDN):c.809G>A (p.Cys270Tyr) rs1778487507
NM_006073.4(TRDN):c.80C>T (p.Ser27Phe) rs770488451
NM_006073.4(TRDN):c.812G>C (p.Arg271Pro)
NM_006073.4(TRDN):c.829T>G (p.Phe277Val)
NM_006073.4(TRDN):c.832G>C (p.Val278Leu)
NM_006073.4(TRDN):c.833T>C (p.Val278Ala) rs954714094
NM_006073.4(TRDN):c.836A>G (p.His279Arg) rs1251196961
NM_006073.4(TRDN):c.839G>A (p.Gly280Glu) rs903971281
NM_006073.4(TRDN):c.840G>T (p.Gly280=)
NM_006073.4(TRDN):c.842A>T (p.Asp281Val)
NM_006073.4(TRDN):c.856_890del (p.Gln286fs)
NM_006073.4(TRDN):c.865G>A (p.Ala289Thr)
NM_006073.4(TRDN):c.872C>T (p.Pro291Leu) rs530972011
NM_006073.4(TRDN):c.874C>T (p.Pro292Ser)
NM_006073.4(TRDN):c.899C>G (p.Ser300Cys) rs2114709180
NM_006073.4(TRDN):c.90A>T (p.Lys30Asn) rs2114537932
NM_006073.4(TRDN):c.920C>T (p.Pro307Leu)
NM_006073.4(TRDN):c.923C>T (p.Ala308Val) rs1776696081
NM_006073.4(TRDN):c.925C>T (p.Leu309Phe)
NM_006073.4(TRDN):c.92T>A (p.Val31Glu)
NM_006073.4(TRDN):c.946AAG[2] (p.Lys318del) rs1774734616
NM_006073.4(TRDN):c.947A>T (p.Lys316Met)
NM_006073.4(TRDN):c.94C>A (p.Leu32Met) rs755548582
NM_006073.4(TRDN):c.984A>T (p.Lys328Asn) rs1774733806
NM_006073.4(TRDN):c.9G>C (p.Glu3Asp) rs1185669572
NM_013266.4(CTNNA3):c.100-1G>A
NM_013266.4(CTNNA3):c.100-7A>G rs201986002
NM_013266.4(CTNNA3):c.1006C>T (p.Arg336Cys) rs375721994
NM_013266.4(CTNNA3):c.1012G>A (p.Ala338Thr) rs763229606
NM_013266.4(CTNNA3):c.1012G>C (p.Ala338Pro)
NM_013266.4(CTNNA3):c.1047+3A>G
NM_013266.4(CTNNA3):c.1048-3C>A rs1840261441
NM_013266.4(CTNNA3):c.1048G>A (p.Ala350Thr)
NM_013266.4(CTNNA3):c.1059del (p.Glu354fs) rs1351207870
NM_013266.4(CTNNA3):c.1073C>T (p.Thr358Ile) rs751471841
NM_013266.4(CTNNA3):c.1101T>A (p.Cys367Ter)
NM_013266.4(CTNNA3):c.1105A>T (p.Lys369Ter) rs1840257862
NM_013266.4(CTNNA3):c.1107_1108delinsAC (p.Thr370Pro)
NM_013266.4(CTNNA3):c.1114G>A (p.Asp372Asn)
NM_013266.4(CTNNA3):c.1121G>A (p.Arg374His) rs1360269534
NM_013266.4(CTNNA3):c.1128+2T>A rs1564675010
NM_013266.4(CTNNA3):c.1128+2T>C rs1564675010
NM_013266.4(CTNNA3):c.1135A>C (p.Lys379Gln)
NM_013266.4(CTNNA3):c.1144A>G (p.Ile382Val)
NM_013266.4(CTNNA3):c.1145T>C (p.Ile382Thr)
NM_013266.4(CTNNA3):c.1171G>A (p.Asp391Asn)
NM_013266.4(CTNNA3):c.1178C>A (p.Thr393Lys)
NM_013266.4(CTNNA3):c.1183C>A (p.Pro395Thr) rs1554848924
NM_013266.4(CTNNA3):c.1191G>C (p.Leu397Phe)
NM_013266.4(CTNNA3):c.1191G>T (p.Leu397Phe)
NM_013266.4(CTNNA3):c.1199T>C (p.Ile400Thr)
NM_013266.4(CTNNA3):c.1205C>A (p.Ala402Asp) rs1352266937
NM_013266.4(CTNNA3):c.1222G>A (p.Glu408Lys)
NM_013266.4(CTNNA3):c.1233A>G (p.Ile411Met) rs1554848898
NM_013266.4(CTNNA3):c.1241A>G (p.Tyr414Cys) rs2132785561
NM_013266.4(CTNNA3):c.1291C>G (p.Leu431Val)
NM_013266.4(CTNNA3):c.1299T>G (p.Cys433Trp)
NM_013266.4(CTNNA3):c.1304T>C (p.Met435Thr)
NM_013266.4(CTNNA3):c.1307C>T (p.Ser436Leu)
NM_013266.4(CTNNA3):c.1324A>G (p.Ile442Val)
NM_013266.4(CTNNA3):c.1345G>A (p.Ala449Thr)
NM_013266.4(CTNNA3):c.1346C>G (p.Ala449Gly) rs2132317654
NM_013266.4(CTNNA3):c.134_135del (p.Pro44_Ser45insTer)
NM_013266.4(CTNNA3):c.1361C>G (p.Thr454Ser)
NM_013266.4(CTNNA3):c.1368T>G (p.Cys456Trp)
NM_013266.4(CTNNA3):c.1373A>G (p.Gln458Arg)
NM_013266.4(CTNNA3):c.1431C>A (p.Asn477Lys)
NM_013266.4(CTNNA3):c.1441A>T (p.Met481Leu)
NM_013266.4(CTNNA3):c.1444T>C (p.Tyr482His)
NM_013266.4(CTNNA3):c.1450C>A (p.Arg484Ser) rs200182913
NM_013266.4(CTNNA3):c.1461G>T (p.Glu487Asp)
NM_013266.4(CTNNA3):c.1469T>C (p.Ile490Thr)
NM_013266.4(CTNNA3):c.1489G>A (p.Val497Ile)
NM_013266.4(CTNNA3):c.1498A>T (p.Ile500Phe)
NM_013266.4(CTNNA3):c.1501A>G (p.Thr501Ala)
NM_013266.4(CTNNA3):c.1523C>A (p.Ala508Asp)
NM_013266.4(CTNNA3):c.1525G>A (p.Val509Ile)
NM_013266.4(CTNNA3):c.152G>A (p.Arg51His)
NM_013266.4(CTNNA3):c.1531+1G>T
NM_013266.4(CTNNA3):c.1531+5G>A
NM_013266.4(CTNNA3):c.1549G>C (p.Asp517His)
NM_013266.4(CTNNA3):c.1556A>C (p.Asn519Thr)
NM_013266.4(CTNNA3):c.1558A>C (p.Lys520Gln)
NM_013266.4(CTNNA3):c.1571C>G (p.Ala524Gly) rs1589162805
NM_013266.4(CTNNA3):c.1577G>A (p.Arg526Lys)
NM_013266.4(CTNNA3):c.1577_1586dup (p.Asp529fs)
NM_013266.4(CTNNA3):c.1581C>A (p.Asp527Glu)
NM_013266.4(CTNNA3):c.1612G>T (p.Gly538Cys)
NM_013266.4(CTNNA3):c.1624G>A (p.Gly542Ser)
NM_013266.4(CTNNA3):c.1645C>A (p.His549Asn) rs1302576659
NM_013266.4(CTNNA3):c.1646A>T (p.His549Leu)
NM_013266.4(CTNNA3):c.1669A>G (p.Ser557Gly) rs768735520
NM_013266.4(CTNNA3):c.1675G>A (p.Glu559Lys)
NM_013266.4(CTNNA3):c.16C>G (p.Pro6Ala) rs756147614
NM_013266.4(CTNNA3):c.16C>T (p.Pro6Ser)
NM_013266.4(CTNNA3):c.1700T>C (p.Val567Ala)
NM_013266.4(CTNNA3):c.1703T>A (p.Met568Lys)
NM_013266.4(CTNNA3):c.1732+6T>C
NM_013266.4(CTNNA3):c.1733-3C>T
NM_013266.4(CTNNA3):c.1748T>C (p.Val583Ala)
NM_013266.4(CTNNA3):c.174_176del (p.Leu59del)
NM_013266.4(CTNNA3):c.1757T>G (p.Val586Gly)
NM_013266.4(CTNNA3):c.1774G>T (p.Ala592Ser) rs1246325935
NM_013266.4(CTNNA3):c.1775C>A (p.Ala592Asp)
NM_013266.4(CTNNA3):c.1775C>G (p.Ala592Gly)
NM_013266.4(CTNNA3):c.1787G>C (p.Ser596Thr)
NM_013266.4(CTNNA3):c.1787_1788delinsAT (p.Ser596Asn) rs2091475179
NM_013266.4(CTNNA3):c.1819G>A (p.Val607Met) rs1564836430
NM_013266.4(CTNNA3):c.181T>C (p.Ser61Pro) rs1843298119
NM_013266.4(CTNNA3):c.1823A>G (p.Asp608Gly) rs138314889
NM_013266.4(CTNNA3):c.1831A>G (p.Lys611Glu)
NM_013266.4(CTNNA3):c.1836G>T (p.Lys612Asn) rs774209973
NM_013266.4(CTNNA3):c.1849A>G (p.Ile617Val) rs2132158723
NM_013266.4(CTNNA3):c.1859T>A (p.Ile620Asn)
NM_013266.4(CTNNA3):c.1870G>C (p.Val624Leu)
NM_013266.4(CTNNA3):c.187G>C (p.Glu63Gln)
NM_013266.4(CTNNA3):c.1882C>A (p.Arg628=) rs149081490
NM_013266.4(CTNNA3):c.1883G>A (p.Arg628Gln) rs754792055
NM_013266.4(CTNNA3):c.1900G>T (p.Glu634Ter)
NM_013266.4(CTNNA3):c.1903G>A (p.Asp635Asn)
NM_013266.4(CTNNA3):c.1924G>T (p.Glu642Ter)
NM_013266.4(CTNNA3):c.1927C>T (p.His643Tyr) rs141141746
NM_013266.4(CTNNA3):c.1933G>C (p.Val645Leu) rs370600208
NM_013266.4(CTNNA3):c.1949G>A (p.Ser650Asn) rs1060502223
NM_013266.4(CTNNA3):c.1977+1G>A
NM_013266.4(CTNNA3):c.1A>C (p.Met1Leu) rs1839754072
NM_013266.4(CTNNA3):c.2017A>T (p.Ile673Phe) rs1485903436
NM_013266.4(CTNNA3):c.2041A>G (p.Lys681Glu) rs142116698
NM_013266.4(CTNNA3):c.2053A>C (p.Ser685Arg)
NM_013266.4(CTNNA3):c.2053A>G (p.Ser685Gly) rs199697536
NM_013266.4(CTNNA3):c.2054G>C (p.Ser685Thr) rs774933459
NM_013266.4(CTNNA3):c.2071A>G (p.Ile691Val)
NM_013266.4(CTNNA3):c.2080T>C (p.Trp694Arg) rs2080381322
NM_013266.4(CTNNA3):c.2097C>G (p.Asn699Lys)
NM_013266.4(CTNNA3):c.2127T>G (p.Cys709Trp) rs1171326311
NM_013266.4(CTNNA3):c.2134A>G (p.Met712Val) rs1055129880
NM_013266.4(CTNNA3):c.2167G>A (p.Gly723Arg) rs2133326152
NM_013266.4(CTNNA3):c.2202_2203delinsCA (p.Ala735Thr)
NM_013266.4(CTNNA3):c.2242C>T (p.Leu748Phe) rs1011996986
NM_013266.4(CTNNA3):c.2248C>G (p.Arg750Gly)
NM_013266.4(CTNNA3):c.2248C>T (p.Arg750Trp) rs149211186
NM_013266.4(CTNNA3):c.2248del (p.Arg750fs)
NM_013266.4(CTNNA3):c.2260A>C (p.Asn754His) rs142752710
NM_013266.4(CTNNA3):c.2265+1G>C rs1589220613
NM_013266.4(CTNNA3):c.2265+1del rs2078476986
NM_013266.4(CTNNA3):c.2265+2T>A rs2078476917
NM_013266.4(CTNNA3):c.2278T>A (p.Ser760Thr) rs760532002
NM_013266.4(CTNNA3):c.2282G>T (p.Cys761Phe)
NM_013266.4(CTNNA3):c.2302T>C (p.Tyr768His)
NM_013266.4(CTNNA3):c.2322C>G (p.Phe774Leu)
NM_013266.4(CTNNA3):c.2324A>G (p.Tyr775Cys) rs2077974257
NM_013266.4(CTNNA3):c.233A>G (p.Gln78Arg)
NM_013266.4(CTNNA3):c.2347A>G (p.Ser783Gly)
NM_013266.4(CTNNA3):c.2351A>G (p.Gln784Arg) rs2133257128
NM_013266.4(CTNNA3):c.2354T>C (p.Val785Ala)
NM_013266.4(CTNNA3):c.2372A>G (p.Asn791Ser)
NM_013266.4(CTNNA3):c.2378GAG[1] (p.Gly794del)
NM_013266.4(CTNNA3):c.2386C>T (p.Leu796Phe)
NM_013266.4(CTNNA3):c.2410G>A (p.Val804Ile)
NM_013266.4(CTNNA3):c.245T>G (p.Val82Gly)
NM_013266.4(CTNNA3):c.2472G>A (p.Met824Ile)
NM_013266.4(CTNNA3):c.2493G>T (p.Lys831Asn)
NM_013266.4(CTNNA3):c.2501G>A (p.Arg834Gln) rs373081692
NM_013266.4(CTNNA3):c.2528A>G (p.His843Arg) rs540211204
NM_013266.4(CTNNA3):c.2530C>A (p.Pro844Thr)
NM_013266.4(CTNNA3):c.2530C>G (p.Pro844Ala) rs2077066633
NM_013266.4(CTNNA3):c.2540T>C (p.Met847Thr) rs1391961462
NM_013266.4(CTNNA3):c.254A>G (p.Asp85Gly)
NM_013266.4(CTNNA3):c.2554G>A (p.Ala852Thr)
NM_013266.4(CTNNA3):c.2563A>C (p.Lys855Gln)
NM_013266.4(CTNNA3):c.2563A>G (p.Lys855Glu) rs2133105906
NM_013266.4(CTNNA3):c.2564A>G (p.Lys855Arg)
NM_013266.4(CTNNA3):c.2567A>C (p.Lys856Thr)
NM_013266.4(CTNNA3):c.2568dup (p.Pro857fs) rs759618368
NM_013266.4(CTNNA3):c.2582G>C (p.Arg861Thr) rs1375445904
NM_013266.4(CTNNA3):c.2584G>A (p.Glu862Lys)
NM_013266.4(CTNNA3):c.2585A>G (p.Glu862Gly)
NM_013266.4(CTNNA3):c.2588del (p.Lys863fs) rs730880073
NM_013266.4(CTNNA3):c.2589G>T (p.Lys863Asn) rs1564515685
NM_013266.4(CTNNA3):c.25T>G (p.Leu9Val)
NM_013266.4(CTNNA3):c.2600C>T (p.Thr867Met)
NM_013266.4(CTNNA3):c.2617C>T (p.Arg873Ter) rs761449098
NM_013266.4(CTNNA3):c.2618G>A (p.Arg873Gln)
NM_013266.4(CTNNA3):c.2638dup (p.Ile880fs) rs761152565
NM_013266.4(CTNNA3):c.263C>T (p.Thr88Met)
NM_013266.4(CTNNA3):c.2642A>G (p.His881Arg)
NM_013266.4(CTNNA3):c.2650C>A (p.Gln884Lys)
NM_013266.4(CTNNA3):c.2654T>C (p.Val885Ala)
NM_013266.4(CTNNA3):c.2665T>C (p.Phe889Leu)
NM_013266.4(CTNNA3):c.2677C>A (p.Gln893Lys)
NM_013266.4(CTNNA3):c.2684A>G (p.Tyr895Cys) rs1426521596
NM_013266.4(CTNNA3):c.2686T>C (p.Ter896Arg) rs2077062157
NM_013266.4(CTNNA3):c.2688A>G (p.Ter896Trp) rs2133105135
NM_013266.4(CTNNA3):c.276G>C (p.Glu92Asp)
NM_013266.4(CTNNA3):c.283C>T (p.Arg95Cys) rs746030160
NM_013266.4(CTNNA3):c.284G>A (p.Arg95His)
NM_013266.4(CTNNA3):c.284G>T (p.Arg95Leu)
NM_013266.4(CTNNA3):c.292A>G (p.Ser98Gly)
NM_013266.4(CTNNA3):c.293-10T>C rs566394363
NM_013266.4(CTNNA3):c.324del (p.Phe108fs)
NM_013266.4(CTNNA3):c.336_337del (p.Cys113fs)
NM_013266.4(CTNNA3):c.34G>A (p.Asp12Asn) rs1839752364
NM_013266.4(CTNNA3):c.364G>T (p.Val122Phe)
NM_013266.4(CTNNA3):c.376C>G (p.Arg126Gly) rs373661106
NM_013266.4(CTNNA3):c.376C>T (p.Arg126Cys) rs373661106
NM_013266.4(CTNNA3):c.388G>C (p.Ala130Pro)
NM_013266.4(CTNNA3):c.38del (p.Pro13fs) rs1169564335
NM_013266.4(CTNNA3):c.398C>T (p.Thr133Met) rs763257801
NM_013266.4(CTNNA3):c.40C>T (p.Gln14Ter) rs1589530547
NM_013266.4(CTNNA3):c.412C>A (p.Leu138Ile) rs899335202
NM_013266.4(CTNNA3):c.416C>A (p.Ala139Glu)
NM_013266.4(CTNNA3):c.421A>G (p.Met141Val) rs781595088
NM_013266.4(CTNNA3):c.431T>C (p.Val144Ala) rs758058375
NM_013266.4(CTNNA3):c.433A>G (p.Met145Val) rs778800601
NM_013266.4(CTNNA3):c.461T>C (p.Phe154Ser)
NM_013266.4(CTNNA3):c.469A>G (p.Thr157Ala)
NM_013266.4(CTNNA3):c.473T>C (p.Phe158Ser) rs1840000920
NM_013266.4(CTNNA3):c.482_483del (p.Leu161fs)
NM_013266.4(CTNNA3):c.493G>A (p.Ala165Thr) rs765439915
NM_013266.4(CTNNA3):c.509T>C (p.Leu170Pro)
NM_013266.4(CTNNA3):c.517A>G (p.Thr173Ala) rs1839999331
NM_013266.4(CTNNA3):c.541C>A (p.Leu181Met) rs1839998542
NM_013266.4(CTNNA3):c.563C>T (p.Ala188Val)
NM_013266.4(CTNNA3):c.572G>A (p.Arg191His)
NM_013266.4(CTNNA3):c.577_579+11dup
NM_013266.4(CTNNA3):c.579G>A (p.Gln193=)
NM_013266.4(CTNNA3):c.59C>T (p.Thr20Ile)
NM_013266.4(CTNNA3):c.602G>A (p.Arg201Lys)
NM_013266.4(CTNNA3):c.617G>A (p.Gly206Glu)
NM_013266.4(CTNNA3):c.619G>T (p.Ala207Ser)
NM_013266.4(CTNNA3):c.649C>G (p.Leu217Val)
NM_013266.4(CTNNA3):c.649C>T (p.Leu217Phe) rs374834298
NM_013266.4(CTNNA3):c.654G>T (p.Leu218Phe) rs371330302
NM_013266.4(CTNNA3):c.662T>C (p.Ile221Thr)
NM_013266.4(CTNNA3):c.665G>T (p.Cys222Phe)
NM_013266.4(CTNNA3):c.674G>A (p.Cys225Tyr) rs747835139
NM_013266.4(CTNNA3):c.698C>T (p.Ser233Phe) rs1232010222
NM_013266.4(CTNNA3):c.721G>C (p.Val241Leu)
NM_013266.4(CTNNA3):c.722T>C (p.Val241Ala)
NM_013266.4(CTNNA3):c.730G>A (p.Glu244Lys)
NM_013266.4(CTNNA3):c.749A>G (p.Asn250Ser)
NM_013266.4(CTNNA3):c.758C>A (p.Ser253Ter)
NM_013266.4(CTNNA3):c.761del (p.Asn254fs)
NM_013266.4(CTNNA3):c.772G>A (p.Gly258Arg) rs1485287209
NM_013266.4(CTNNA3):c.778C>T (p.Gln260Ter) rs2132264877
NM_013266.4(CTNNA3):c.793_797dup (p.Glu267fs) rs2132264737
NM_013266.4(CTNNA3):c.802C>T (p.Pro268Ser)
NM_013266.4(CTNNA3):c.811G>A (p.Ala271Thr)
NM_013266.4(CTNNA3):c.843+1G>T rs1256726247
NM_013266.4(CTNNA3):c.844-17A>G
NM_013266.4(CTNNA3):c.844-2A>G rs766109504
NM_013266.4(CTNNA3):c.844-5C>G rs1862484592
NM_013266.4(CTNNA3):c.844-6T>G
NM_013266.4(CTNNA3):c.856C>A (p.Leu286Met) rs1554939194
NM_013266.4(CTNNA3):c.869C>T (p.Thr290Ile)
NM_013266.4(CTNNA3):c.874A>T (p.Thr292Ser)
NM_013266.4(CTNNA3):c.888A>G (p.Ile296Met)
NM_013266.4(CTNNA3):c.904A>G (p.Lys302Glu) rs970349800
NM_013266.4(CTNNA3):c.914A>G (p.Glu305Gly)
NM_013266.4(CTNNA3):c.919A>T (p.Ile307Phe) rs543478300
NM_013266.4(CTNNA3):c.92T>A (p.Ile31Lys)
NM_013266.4(CTNNA3):c.944C>T (p.Ala315Val)
NM_013266.4(CTNNA3):c.947A>G (p.Asp316Gly)
NM_013266.4(CTNNA3):c.952T>C (p.Ser318Pro) rs1564948470
NM_013266.4(CTNNA3):c.974G>C (p.Arg325Pro) rs773609785
NM_013266.4(CTNNA3):c.979C>T (p.Arg327Trp)
NM_013266.4(CTNNA3):c.988G>A (p.Ala330Thr)
NM_013266.4(CTNNA3):c.989C>T (p.Ala330Val)
NM_013266.4(CTNNA3):c.99+3A>G rs1839749463
NM_024334.3(TMEM43):c.1000+3A>G rs1695218964
NM_024334.3(TMEM43):c.1001dup (p.Asp335fs)
NM_024334.3(TMEM43):c.1004A>G (p.Asp335Gly) rs1553603641
NM_024334.3(TMEM43):c.100G>A (p.Gly34Ser) rs1376541965
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu) rs17856369
NM_024334.3(TMEM43):c.1015G>A (p.Val339Ile)
NM_024334.3(TMEM43):c.1019T>C (p.Phe340Ser) rs1559363663
NM_024334.3(TMEM43):c.1028T>A (p.Leu343Gln)
NM_024334.3(TMEM43):c.1028T>C (p.Leu343Pro)
NM_024334.3(TMEM43):c.1034A>G (p.Asn345Ser) rs758981622
NM_024334.3(TMEM43):c.1036A>G (p.Ile346Val) rs2124997196
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val) rs769793469
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe) rs187262922
NM_024334.3(TMEM43):c.106A>G (p.Met36Val)
NM_024334.3(TMEM43):c.1079C>T (p.Thr360Ile) rs1181935816
NM_024334.3(TMEM43):c.107T>A (p.Met36Lys) rs1695064880
NM_024334.3(TMEM43):c.1090G>C (p.Val364Leu) rs754236206
NM_024334.3(TMEM43):c.1094C>T (p.Ala365Val) rs1052317732
NM_024334.3(TMEM43):c.1097C>T (p.Ala366Val)
NM_024334.3(TMEM43):c.1100G>A (p.Gly367Asp) rs794729179
NM_024334.3(TMEM43):c.110T>G (p.Phe37Cys) rs1695064977
NM_024334.3(TMEM43):c.1110C>G (p.Phe370Leu)
NM_024334.3(TMEM43):c.1112A>C (p.Tyr371Ser) rs752269639
NM_024334.3(TMEM43):c.1117C>A (p.Pro373Thr) rs770871762
NM_024334.3(TMEM43):c.1121T>C (p.Leu374Pro) rs2124997342
NM_024334.3(TMEM43):c.1127C>A (p.Ala376Asp)
NM_024334.3(TMEM43):c.1129C>T (p.Leu377Phe)
NM_024334.3(TMEM43):c.112G>A (p.Val38Met) rs977468112
NM_024334.3(TMEM43):c.1139C>G (p.Ala380Gly)
NM_024334.3(TMEM43):c.113T>A (p.Val38Glu) rs1695065091
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val) rs193922706
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe) rs193922706
NM_024334.3(TMEM43):c.1153G>A (p.Val385Met)
NM_024334.3(TMEM43):c.1156C>T (p.Pro386Ser) rs1430520295
NM_024334.3(TMEM43):c.1159A>G (p.Ile387Val) rs541565919
NM_024334.3(TMEM43):c.1165G>A (p.Val389Ile)
NM_024334.3(TMEM43):c.1165G>T (p.Val389Phe) rs1308027129
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp) rs1574942204
NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs) rs2124997454
NM_024334.3(TMEM43):c.1196T>G (p.Leu399Trp) rs1559363776
NM_024334.3(TMEM43):c.1198G>T (p.Glu400Ter) rs1252529536
NM_024334.3(TMEM43):c.11A>T (p.Asn4Ile)
NM_024334.3(TMEM43):c.12+2T>C
NM_024334.3(TMEM43):c.12+4A>C rs2124981822
NM_024334.3(TMEM43):c.124G>T (p.Ala42Ser) rs2124985701
NM_024334.3(TMEM43):c.13-2A>C
NM_024334.3(TMEM43):c.13-3C>T
NM_024334.3(TMEM43):c.136T>A (p.Ser46Thr) rs145510310
NM_024334.3(TMEM43):c.140_142del (p.Phe47del)
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser) rs1553602871
NM_024334.3(TMEM43):c.14A>G (p.Tyr5Cys)
NM_024334.3(TMEM43):c.162+1G>A rs1695065907
NM_024334.3(TMEM43):c.162G>C (p.Glu54Asp) rs746126153
NM_024334.3(TMEM43):c.169G>T (p.Ala57Ser) rs151010429
NM_024334.3(TMEM43):c.178A>G (p.Thr60Ala) rs1695084121
NM_024334.3(TMEM43):c.193G>A (p.Ala65Thr) rs1695084511
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val) rs766792876
NM_024334.3(TMEM43):c.203T>C (p.Leu68Pro) rs1553602940
NM_024334.3(TMEM43):c.218C>G (p.Ser73Cys) rs200652985
NM_024334.3(TMEM43):c.21T>G (p.Ser7Arg) rs371236613
NM_024334.3(TMEM43):c.235A>C (p.Ser79Arg) rs930770110
NM_024334.3(TMEM43):c.236del (p.Ser79fs)
NM_024334.3(TMEM43):c.241G>A (p.Ala81Thr) rs1695085843
NM_024334.3(TMEM43):c.241del (p.Ala81fs)
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu) rs771454768
NM_024334.3(TMEM43):c.281C>T (p.Ala94Val)
NM_024334.3(TMEM43):c.286C>T (p.Arg96Trp)
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln) rs748343919
NM_024334.3(TMEM43):c.287G>C (p.Arg96Pro) rs748343919
NM_024334.3(TMEM43):c.289A>T (p.Thr97Ser) rs1695087564
NM_024334.3(TMEM43):c.295A>G (p.Lys99Glu)
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg) rs199943048
NM_024334.3(TMEM43):c.298-5T>A rs1027914711
NM_024334.3(TMEM43):c.305C>G (p.Ser102Cys)
NM_024334.3(TMEM43):c.313A>G (p.Asn105Asp)
NM_024334.3(TMEM43):c.322G>T (p.Val108Phe)
NM_024334.3(TMEM43):c.326A>G (p.His109Arg) rs1398278496
NM_024334.3(TMEM43):c.329_330del (p.Leu110fs) rs2124987821
NM_024334.3(TMEM43):c.331C>G (p.Pro111Ala) rs2124987826
NM_024334.3(TMEM43):c.332C>A (p.Pro111Gln) rs765816901
NM_024334.3(TMEM43):c.332C>T (p.Pro111Leu)
NM_024334.3(TMEM43):c.337G>A (p.Val113Met) rs572474708
NM_024334.3(TMEM43):c.348del (p.Arg117fs) rs2124987856
NM_024334.3(TMEM43):c.351dup (p.His118fs)
NM_024334.3(TMEM43):c.352C>T (p.His118Tyr)
NM_024334.3(TMEM43):c.362T>C (p.Met121Thr) rs1286177938
NM_024334.3(TMEM43):c.362T>G (p.Met121Arg) rs1286177938
NM_024334.3(TMEM43):c.363G>A (p.Met121Ile) rs1695097590
NM_024334.3(TMEM43):c.369A>G (p.Gln123=) rs2124987912
NM_024334.3(TMEM43):c.371G>A (p.Trp124Ter) rs2124987915
NM_024334.3(TMEM43):c.384G>C (p.Glu128Asp)
NM_024334.3(TMEM43):c.391A>C (p.Arg131=) rs2124987934
NM_024334.3(TMEM43):c.392+4A>G rs397517382
NM_024334.3(TMEM43):c.393G>A (p.Arg131=) rs1695110759
NM_024334.3(TMEM43):c.394G>A (p.Glu132Lys)
NM_024334.3(TMEM43):c.394G>T (p.Glu132Ter) rs1315939046
NM_024334.3(TMEM43):c.395A>C (p.Glu132Ala)
NM_024334.3(TMEM43):c.396G>C (p.Glu132Asp) rs1553603024
NM_024334.3(TMEM43):c.396G>T (p.Glu132Asp) rs1553603024
NM_024334.3(TMEM43):c.40C>T (p.His14Tyr)
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del) rs746639451
NM_024334.3(TMEM43):c.421A>G (p.Lys141Glu)
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln) rs145619906
NM_024334.3(TMEM43):c.443-13T>G
NM_024334.3(TMEM43):c.443-2A>T
NM_024334.3(TMEM43):c.443A>G (p.Asn148Ser) rs1046932119
NM_024334.3(TMEM43):c.446C>T (p.Thr149Ile) rs1695115690
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu) rs1369869806
NM_024334.3(TMEM43):c.464TCA[1] (p.Ile156del) rs1574938257
NM_024334.3(TMEM43):c.473G>A (p.Ser158Asn) rs1695116123
NM_024334.3(TMEM43):c.47A>G (p.Lys16Arg) rs770619613
NM_024334.3(TMEM43):c.482del (p.Phe161fs) rs769722980
NM_024334.3(TMEM43):c.485A>G (p.Asp162Gly) rs1312639832
NM_024334.3(TMEM43):c.488G>A (p.Arg163Gln) rs759676847
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp) rs949064136
NM_024334.3(TMEM43):c.497G>T (p.Gly166Val)
NM_024334.3(TMEM43):c.499C>G (p.His167Asp) rs1553603052
NM_024334.3(TMEM43):c.4G>C (p.Ala2Pro) rs1695000807
NM_024334.3(TMEM43):c.502A>G (p.Lys168Glu)
NM_024334.3(TMEM43):c.511A>G (p.Ser171Gly)
NM_024334.3(TMEM43):c.511A>T (p.Ser171Cys) rs2124989219
NM_024334.3(TMEM43):c.544G>A (p.Ala182Thr) rs757013233
NM_024334.3(TMEM43):c.545C>T (p.Ala182Val) rs1394010451
NM_024334.3(TMEM43):c.548C>T (p.Pro183Leu) rs746116143
NM_024334.3(TMEM43):c.548_559del (p.Pro183_Ile187delinsLeu)
NM_024334.3(TMEM43):c.556C>T (p.Gln186Ter) rs1553603107
NM_024334.3(TMEM43):c.55del (p.Thr19fs)
NM_024334.3(TMEM43):c.568T>A (p.Phe190Ile) rs768718054
NM_024334.3(TMEM43):c.583+4A>G rs1574938748
NM_024334.3(TMEM43):c.583+5G>A
NM_024334.3(TMEM43):c.584G>C (p.Gly195Ala) rs1458517961
NM_024334.3(TMEM43):c.584G>T (p.Gly195Val)
NM_024334.3(TMEM43):c.599T>C (p.Val200Ala) rs2124990795
NM_024334.3(TMEM43):c.59G>A (p.Ser20Asn)
NM_024334.3(TMEM43):c.59G>C (p.Ser20Thr) rs1261978753
NM_024334.3(TMEM43):c.605A>T (p.Asn202Ile) rs958959766
NM_024334.3(TMEM43):c.611A>G (p.Lys204Arg) rs568657650
NM_024334.3(TMEM43):c.614C>T (p.Ser205Phe) rs769787683
NM_024334.3(TMEM43):c.62C>G (p.Ser21Cys)
NM_024334.3(TMEM43):c.631C>G (p.Leu211Val) rs1209223184
NM_024334.3(TMEM43):c.634G>C (p.Glu212Gln)
NM_024334.3(TMEM43):c.640C>G (p.Pro214Ala) rs1574939150
NM_024334.3(TMEM43):c.644A>T (p.His215Leu) rs730880225
NM_024334.3(TMEM43):c.645T>G (p.His215Gln) rs370782259
NM_024334.3(TMEM43):c.646G>T (p.Val216Leu) rs143735210
NM_024334.3(TMEM43):c.652A>G (p.Ile218Val)
NM_024334.3(TMEM43):c.65A>G (p.Gln22Arg)
NM_024334.3(TMEM43):c.662G>T (p.Arg221Leu)
NM_024334.3(TMEM43):c.667G>T (p.Asp223Tyr)
NM_024334.3(TMEM43):c.668A>T (p.Asp223Val)
NM_024334.3(TMEM43):c.66_67insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG (p.Pro23delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_024334.3(TMEM43):c.670T>C (p.Phe224Leu) rs1695146244
NM_024334.3(TMEM43):c.674del (p.Phe225fs) rs1559361774
NM_024334.3(TMEM43):c.675C>G (p.Phe225Leu) rs1559361776
NM_024334.3(TMEM43):c.679C>T (p.His227Tyr) rs201460674
NM_024334.3(TMEM43):c.685G>A (p.Glu229Lys) rs1304261093
NM_024334.3(TMEM43):c.696G>C (p.Lys232Asn)
NM_024334.3(TMEM43):c.699T>A (p.Tyr233Ter) rs1321317891
NM_024334.3(TMEM43):c.699T>C (p.Tyr233=)
NM_024334.3(TMEM43):c.703G>A (p.Glu235Lys) rs1574939228
NM_024334.3(TMEM43):c.704A>G (p.Glu235Gly) rs751419150
NM_024334.3(TMEM43):c.706-1G>A rs764377071
NM_024334.3(TMEM43):c.706-1G>T
NM_024334.3(TMEM43):c.706-3C>A
NM_024334.3(TMEM43):c.710G>A (p.Gly237Glu)
NM_024334.3(TMEM43):c.712G>A (p.Asp238Asn) rs2124991270
NM_024334.3(TMEM43):c.718C>G (p.Arg240Gly) rs367910936
NM_024334.3(TMEM43):c.725C>G (p.Ser242Cys)
NM_024334.3(TMEM43):c.743T>C (p.Leu248Pro) rs774356401
NM_024334.3(TMEM43):c.749dup (p.Asp251fs) rs1695151947
NM_024334.3(TMEM43):c.760_780+2dup rs1559361931
NM_024334.3(TMEM43):c.764T>C (p.Leu255Pro) rs1343395046
NM_024334.3(TMEM43):c.767G>A (p.Gly256Asp) rs2124991379
NM_024334.3(TMEM43):c.778G>T (p.Val260Leu)
NM_024334.3(TMEM43):c.77T>C (p.Leu26Pro) rs2124985579
NM_024334.3(TMEM43):c.780+5C>A
NM_024334.3(TMEM43):c.781-7T>A
NM_024334.3(TMEM43):c.788_789del (p.Val263fs) rs1489814713
NM_024334.3(TMEM43):c.7G>A (p.Ala3Thr)
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln) rs769969149
NM_024334.3(TMEM43):c.809A>G (p.Asp270Gly) rs1201367358
NM_024334.3(TMEM43):c.824T>G (p.Phe275Cys)
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg) rs1427535931
NM_024334.3(TMEM43):c.834G>C (p.Lys278Asn)
NM_024334.3(TMEM43):c.83G>C (p.Arg28Pro) rs757651177
NM_024334.3(TMEM43):c.841G>A (p.Asp281Asn)
NM_024334.3(TMEM43):c.844A>G (p.Thr282Ala)
NM_024334.3(TMEM43):c.850C>G (p.Leu284Val) rs727504764
NM_024334.3(TMEM43):c.852_853delinsAA (p.Leu285Ile) rs1695163023
NM_024334.3(TMEM43):c.861C>G (p.His287Gln) rs886039048
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr) rs771028028
NM_024334.3(TMEM43):c.866G>A (p.Gly289Glu)
NM_024334.3(TMEM43):c.877G>A (p.Ala293Thr) rs1060501357
NM_024334.3(TMEM43):c.878C>A (p.Ala293Glu) rs1695163617
NM_024334.3(TMEM43):c.886G>A (p.Val296Met) rs1695216015
NM_024334.3(TMEM43):c.887T>C (p.Val296Ala)
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile) rs990243563
NM_024334.3(TMEM43):c.895dup (p.Arg299fs) rs1695216412
NM_024334.3(TMEM43):c.898G>T (p.Glu300Ter) rs746029667
NM_024334.3(TMEM43):c.905G>A (p.Arg302Lys) rs539945827
NM_024334.3(TMEM43):c.908G>A (p.Ser303Asn)
NM_024334.3(TMEM43):c.914C>A (p.Ser305Tyr) rs777277570
NM_024334.3(TMEM43):c.917_918delinsCT (p.Met306Thr) rs1553603453
NM_024334.3(TMEM43):c.923C>T (p.Thr308Ile)
NM_024334.3(TMEM43):c.925T>C (p.Trp309Arg)
NM_024334.3(TMEM43):c.928G>T (p.Gly310Cys)
NM_024334.3(TMEM43):c.929del (p.Gly310fs) rs2124995245
NM_024334.3(TMEM43):c.937G>A (p.Ala313Thr) rs2124995269
NM_024334.3(TMEM43):c.944G>T (p.Gly315Val)
NM_024334.3(TMEM43):c.955A>G (p.Met319Val)
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val) rs1553603462
NM_024334.3(TMEM43):c.970A>G (p.Asn324Asp) rs1365389365
NM_024334.3(TMEM43):c.971A>T (p.Asn324Ile)
NM_024334.3(TMEM43):c.971del (p.Asn324fs) rs1553603465
NM_024334.3(TMEM43):c.985A>C (p.Ile329Leu) rs1060501358
NM_024334.3(TMEM43):c.992A>G (p.Tyr331Cys)
NM_024334.3(TMEM43):c.99_120del (p.Gly34fs)
NM_024422.6(DSC2):c.1022G>T (p.Cys341Phe)
NM_024422.6(DSC2):c.1025T>A (p.Ile342Asn)
NM_024422.6(DSC2):c.1027A>G (p.Ile343Val) rs1409325550
NM_024422.6(DSC2):c.1028T>C (p.Ile343Thr) rs1567978329
NM_024422.6(DSC2):c.1054T>A (p.Leu352Met) rs2144821150
NM_024422.6(DSC2):c.1058C>T (p.Pro353Leu) rs1208688367
NM_024422.6(DSC2):c.1066A>T (p.Thr356Ser) rs2144821078
NM_024422.6(DSC2):c.106A>G (p.Thr36Ala) rs2144850401
NM_024422.6(DSC2):c.1072A>C (p.Thr358Pro)
NM_024422.6(DSC2):c.1073C>A (p.Thr358Asn) rs139399951
NM_024422.6(DSC2):c.1078-6T>G rs1555639038
NM_024422.6(DSC2):c.1095A>T (p.Glu365Asp)
NM_024422.6(DSC2):c.1102A>G (p.Thr368Ala) rs1598583223
NM_024422.6(DSC2):c.1105G>A (p.Val369Ile)
NM_024422.6(DSC2):c.1111G>A (p.Val371Met) rs1252791235
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1145A>T (p.Asp382Val)
NM_024422.6(DSC2):c.114T>A (p.His38Gln) rs1987672342
NM_024422.6(DSC2):c.1177T>G (p.Tyr393Asp)
NM_024422.6(DSC2):c.118C>A (p.Pro40Thr)
NM_024422.6(DSC2):c.1192G>A (p.Gly398Ser) rs1060502991
NM_024422.6(DSC2):c.1204G>T (p.Gly402Cys) rs1598583039
NM_024422.6(DSC2):c.1205G>T (p.Gly402Val)
NM_024422.6(DSC2):c.1215A>T (p.Lys405Asn) rs781472939
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys) rs765511398
NM_024422.6(DSC2):c.1239T>G (p.Asn413Lys) rs765511398
NM_024422.6(DSC2):c.1247T>C (p.Val416Ala)
NM_024422.6(DSC2):c.1255G>A (p.Val419Ile)
NM_024422.6(DSC2):c.1256T>C (p.Val419Ala)
NM_024422.6(DSC2):c.1263+2dup rs1987243669
NM_024422.6(DSC2):c.1263+3_1263+4insG rs1987243436
NM_024422.6(DSC2):c.1263+5G>T
NM_024422.6(DSC2):c.1264-11T>G
NM_024422.6(DSC2):c.1264C>T (p.Pro422Ser)
NM_024422.6(DSC2):c.1280A>G (p.Glu427Gly)
NM_024422.6(DSC2):c.1289A>G (p.Gln430Arg)
NM_024422.6(DSC2):c.128T>C (p.Leu43Pro)
NM_024422.6(DSC2):c.1290G>C (p.Gln430His) rs191461349
NM_024422.6(DSC2):c.1296C>G (p.Ile432Met)
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val) rs763981974
NM_024422.6(DSC2):c.1312G>C (p.Val438Leu)
NM_024422.6(DSC2):c.1313T>C (p.Val438Ala)
NM_024422.6(DSC2):c.1316A>C (p.Asn439Thr)
NM_024422.6(DSC2):c.1321G>A (p.Ala441Thr) rs2144814171
NM_024422.6(DSC2):c.1321_1329del (p.Ala441_Phe443del) rs1987173347
NM_024422.6(DSC2):c.1324C>G (p.Pro442Ala)
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser) rs201480399
NM_024422.6(DSC2):c.1340C>G (p.Ala447Gly)
NM_024422.6(DSC2):c.1341_1355del (p.Ser448_Ala452del) rs1301674152
NM_024422.6(DSC2):c.1343G>A (p.Ser448Asn) rs778959850
NM_024422.6(DSC2):c.1344T>A (p.Ser448Arg)
NM_024422.6(DSC2):c.1345C>G (p.Pro449Ala)
NM_024422.6(DSC2):c.1346C>G (p.Pro449Arg) rs1394323673
NM_024422.6(DSC2):c.1350A>C (p.Arg450Ser) rs144242114
NM_024422.6(DSC2):c.1352C>T (p.Ser451Leu) rs794728068
NM_024422.6(DSC2):c.1358T>C (p.Met453Thr)
NM_024422.6(DSC2):c.1396G>C (p.Asp466His)
NM_024422.6(DSC2):c.1405C>T (p.Pro469Ser) rs2144813745
NM_024422.6(DSC2):c.1418C>T (p.Pro473Leu) rs1987166340
NM_024422.6(DSC2):c.1424T>C (p.Ile475Thr) rs1022023137
NM_024422.6(DSC2):c.1427A>C (p.Gln476Pro)
NM_024422.6(DSC2):c.142C>G (p.Leu48Val) rs769776739
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe) rs769776739
NM_024422.6(DSC2):c.1436G>A (p.Arg479His) rs774641579
NM_024422.6(DSC2):c.1436G>T (p.Arg479Leu) rs774641579
NM_024422.6(DSC2):c.1466C>T (p.Thr489Ile)
NM_024422.6(DSC2):c.1470C>G (p.Ser490Arg) rs1237446574
NM_024422.6(DSC2):c.1475G>C (p.Gly492Ala)
NM_024422.6(DSC2):c.1477T>C (p.Tyr493His)
NM_024422.6(DSC2):c.1478A>G (p.Tyr493Cys) rs1987162049
NM_024422.6(DSC2):c.1505G>T (p.Ser502Ile)
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly) rs750965801
NM_024422.6(DSC2):c.1514G>A (p.Gly505Asp) rs1987160435
NM_024422.6(DSC2):c.1520+4C>T
NM_024422.6(DSC2):c.1523A>G (p.Tyr508Cys) rs1987155402
NM_024422.6(DSC2):c.1540C>G (p.Pro514Ala)
NM_024422.6(DSC2):c.1543A>G (p.Thr515Ala) rs771406828
NM_024422.6(DSC2):c.1547G>C (p.Gly516Ala)
NM_024422.6(DSC2):c.154G>A (p.Val52Ile)
NM_024422.6(DSC2):c.1552G>A (p.Val518Ile) rs397517394
NM_024422.6(DSC2):c.1556C>G (p.Thr519Ser)
NM_024422.6(DSC2):c.155T>A (p.Val52Asp)
NM_024422.6(DSC2):c.155T>C (p.Val52Ala) rs1987629779
NM_024422.6(DSC2):c.1562A>C (p.Asp521Ala) rs1987152292
NM_024422.6(DSC2):c.1565A>C (p.Glu522Ala)
NM_024422.6(DSC2):c.1571C>G (p.Thr524Arg)
NM_024422.6(DSC2):c.158A>T (p.Asn53Ile)
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser) rs762973455
NM_024422.6(DSC2):c.1595G>A (p.Ser532Asn) rs1987150000
NM_024422.6(DSC2):c.1600G>A (p.Asp534Asn) rs1555638635
NM_024422.6(DSC2):c.1615A>G (p.Thr539Ala)
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met) rs765374888
NM_024422.6(DSC2):c.1658A>G (p.Asp553Gly)
NM_024422.6(DSC2):c.1661A>G (p.Gln554Arg) rs1987145211
NM_024422.6(DSC2):c.1676G>A (p.Cys559Tyr) rs773866217
NM_024422.6(DSC2):c.168G>C (p.Glu56Asp) rs1555640202
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser) rs1986963426
NM_024422.6(DSC2):c.16C>G (p.Pro6Ala)
NM_024422.6(DSC2):c.16C>T (p.Pro6Ser)
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.6(DSC2):c.1708G>A (p.Val570Met) rs992887444
NM_024422.6(DSC2):c.1715A>T (p.Asp572Val) rs1030017004
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp) rs1057518818
NM_024422.6(DSC2):c.1730T>C (p.Ile577Thr) rs2144800248
NM_024422.6(DSC2):c.1731A>G (p.Ile577Met) rs2144800239
NM_024422.6(DSC2):c.1733C>T (p.Pro578Leu)
NM_024422.6(DSC2):c.1738A>G (p.Lys580Glu)
NM_024422.6(DSC2):c.173T>G (p.Phe58Cys)
NM_024422.6(DSC2):c.1741A>C (p.Thr581Pro) rs1266547190
NM_024422.6(DSC2):c.1744G>A (p.Val582Met)
NM_024422.6(DSC2):c.1745T>C (p.Val582Ala) rs1986959880
NM_024422.6(DSC2):c.1750A>T (p.Ile584Phe) rs755041461
NM_024422.6(DSC2):c.1762A>T (p.Thr588Ser)
NM_024422.6(DSC2):c.1765A>G (p.Met589Val) rs1442456553
NM_024422.6(DSC2):c.1766T>A (p.Met589Lys) rs201856473
NM_024422.6(DSC2):c.1780A>C (p.Ile594Leu) rs1365493039
NM_024422.6(DSC2):c.1780A>G (p.Ile594Val) rs1365493039
NM_024422.6(DSC2):c.1786G>C (p.Ala596Pro)
NM_024422.6(DSC2):c.1795C>G (p.Pro599Ala)
NM_024422.6(DSC2):c.17C>T (p.Pro6Leu) rs1378826078
NM_024422.6(DSC2):c.1811A>G (p.His604Arg)
NM_024422.6(DSC2):c.1812T>A (p.His604Gln) rs781010501
NM_024422.6(DSC2):c.182C>G (p.Ala61Gly) rs758707293
NM_024422.6(DSC2):c.182C>T (p.Ala61Val)
NM_024422.6(DSC2):c.1837G>C (p.Glu613Gln) rs777716519
NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly) rs1986952876
NM_024422.6(DSC2):c.1846A>T (p.Thr616Ser) rs753887142
NM_024422.6(DSC2):c.1852G>A (p.Glu618Lys)
NM_024422.6(DSC2):c.1867T>C (p.Trp623Arg)
NM_024422.6(DSC2):c.186T>A (p.Asn62Lys) rs748644229
NM_024422.6(DSC2):c.1879G>A (p.Ala627Thr)
NM_024422.6(DSC2):c.1882A>G (p.Ile628Val) rs1986950360
NM_024422.6(DSC2):c.1889A>T (p.Asp630Val)
NM_024422.6(DSC2):c.1892C>A (p.Thr631Lys)
NM_024422.6(DSC2):c.1892C>T (p.Thr631Ile)
NM_024422.6(DSC2):c.1907C>G (p.Ser636Cys) rs764355417
NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn) rs267605146
NM_024422.6(DSC2):c.1934C>T (p.Ser645Leu) rs1339580561
NM_024422.6(DSC2):c.1936T>A (p.Tyr646Asn)
NM_024422.6(DSC2):c.1939G>A (p.Val647Ile)
NM_024422.6(DSC2):c.193C>G (p.His65Asp) rs2144846957
NM_024422.6(DSC2):c.1940T>C (p.Val647Ala) rs1986843978
NM_024422.6(DSC2):c.1957A>G (p.Arg653Gly) rs1598573489
NM_024422.6(DSC2):c.1960G>A (p.Asp654Asn) rs1315556709
NM_024422.6(DSC2):c.1970G>T (p.Gly657Val) rs1986842583
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly) rs778236763
NM_024422.6(DSC2):c.19T>C (p.Ser7Pro) rs774977340
NM_024422.6(DSC2):c.1A>G (p.Met1Val) rs1026402319
NM_024422.6(DSC2):c.2012G>A (p.Cys671Tyr)
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val) rs375842356
NM_024422.6(DSC2):c.2032A>G (p.Thr678Ala)
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile) rs794728062
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser) rs757253682
NM_024422.6(DSC2):c.2038C>T (p.Arg680Cys) rs757253682
NM_024422.6(DSC2):c.2039G>A (p.Arg680His) rs374002111
NM_024422.6(DSC2):c.2045A>T (p.Asp682Val)
NM_024422.6(DSC2):c.2054T>C (p.Ile685Thr) rs1598573230
NM_024422.6(DSC2):c.2059G>C (p.Gly687Arg) rs199616533
NM_024422.6(DSC2):c.205C>A (p.Pro69Thr)
NM_024422.6(DSC2):c.2074C>A (p.Leu692Ile)
NM_024422.6(DSC2):c.2096C>A (p.Ala699Glu)
NM_024422.6(DSC2):c.2096C>T (p.Ala699Val) rs2144790608
NM_024422.6(DSC2):c.2098A>G (p.Ile700Val) rs1986830558
NM_024422.6(DSC2):c.2100_2102dup (p.Leu702dup) rs2144790582
NM_024422.6(DSC2):c.2102T>G (p.Leu701Trp)
NM_024422.6(DSC2):c.2103G>T (p.Leu701Phe)
NM_024422.6(DSC2):c.2108G>A (p.Gly703Asp)
NM_024422.6(DSC2):c.2110A>C (p.Ile704Leu) rs1986830020
NM_024422.6(DSC2):c.2113G>A (p.Ala705Thr) rs1986829904
NM_024422.6(DSC2):c.211T>G (p.Phe71Val)
NM_024422.6(DSC2):c.2124T>C (p.Phe708=)
NM_024422.6(DSC2):c.2124T>G (p.Phe708Leu)
NM_024422.6(DSC2):c.2126-11_2126-8del rs1476161781
NM_024422.6(DSC2):c.2147G>A (p.Cys716Tyr) rs764008863
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys) rs759513934
NM_024422.6(DSC2):c.216A>C (p.Gln72His) rs767293228
NM_024422.6(DSC2):c.216A>G (p.Gln72=) rs767293228
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr) rs1422818892
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val) rs886053695
NM_024422.6(DSC2):c.2201A>G (p.Gln734Arg)
NM_024422.6(DSC2):c.2218T>C (p.Ser740Pro) rs1555637438
NM_024422.6(DSC2):c.2229A>C (p.Glu743Asp) rs1380094242
NM_024422.6(DSC2):c.222G>T (p.Leu74Phe) rs2144846839
NM_024422.6(DSC2):c.2234C>T (p.Pro745Leu) rs2144788073
NM_024422.6(DSC2):c.2236G>A (p.Gly746Arg) rs1986795375
NM_024422.6(DSC2):c.2248G>A (p.Val750Met) rs753775769
NM_024422.6(DSC2):c.2250+3A>G rs1555637433
NM_024422.6(DSC2):c.2251-4T>C rs2144784611
NM_024422.6(DSC2):c.2251T>C (p.Tyr751His)
NM_024422.6(DSC2):c.2276A>C (p.Gln759Pro)
NM_024422.6(DSC2):c.2279C>G (p.Thr760Ser) rs1331111206
NM_024422.6(DSC2):c.2288C>T (p.Ala763Val) rs1986739683
NM_024422.6(DSC2):c.229G>A (p.Gly77Ser)
NM_024422.6(DSC2):c.22G>A (p.Gly8Ser) rs1555641325
NM_024422.6(DSC2):c.2309G>A (p.Gly770Asp)
NM_024422.6(DSC2):c.230G>T (p.Gly77Val) rs761544006
NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys) rs866805043
NM_024422.6(DSC2):c.2347A>G (p.Thr783Ala)
NM_024422.6(DSC2):c.2359G>A (p.Val787Met) rs1789053
NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr) rs1430547540
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu) rs1555637241
NM_024422.6(DSC2):c.2375A>G (p.Gln792Arg)
NM_024422.6(DSC2):c.2377A>G (p.Thr793Ala)
NM_024422.6(DSC2):c.2379del (p.Ser794fs) rs2144783901
NM_024422.6(DSC2):c.2383G>A (p.Glu795Lys)
NM_024422.6(DSC2):c.2384_2385inv (p.Glu795Val)
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu) rs61731921
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser) rs565136635
NM_024422.6(DSC2):c.2398del (p.Ala800fs) rs397517399
NM_024422.6(DSC2):c.2402G>A (p.Gly801Asp) rs1215462499
NM_024422.6(DSC2):c.2408A>C (p.His803Pro)
NM_024422.6(DSC2):c.2412C>A (p.His804Gln) rs1986728077
NM_024422.6(DSC2):c.2437C>T (p.His813Tyr) rs1402474064
NM_024422.6(DSC2):c.2438A>C (p.His813Pro) rs766881629
NM_024422.6(DSC2):c.2440A>T (p.Thr814Ser)
NM_024422.6(DSC2):c.2444A>G (p.Glu815Gly) rs1473364512
NM_024422.6(DSC2):c.2451C>A (p.Asp817Glu) rs762214540
NM_024422.6(DSC2):c.2456G>A (p.Cys819Tyr) rs773961399
NM_024422.6(DSC2):c.2462A>G (p.Tyr821Cys) rs762627642
NM_024422.6(DSC2):c.2487del (p.Phe829fs) rs794728073
NM_024422.6(DSC2):c.2497C>G (p.Arg833Gly) rs142410803
NM_024422.6(DSC2):c.2508+6T>C
NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys) rs2144781456
NM_024422.6(DSC2):c.2522G>A (p.Cys841Tyr) rs2144781440
NM_024422.6(DSC2):c.2529A>C (p.Gln843His) rs2144781418
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_024422.6(DSC2):c.254T>C (p.Ile85Thr)
NM_024422.6(DSC2):c.2570_2573dup (p.Asn858delinsLysTer)
NM_024422.6(DSC2):c.2570_2574del (p.Tyr857fs) rs2144781196
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs) rs780970079
NM_024422.6(DSC2):c.2597C>T (p.Ala866Val) rs760363798
NM_024422.6(DSC2):c.2597_2600del (p.Ala866fs) rs2144781031
NM_024422.6(DSC2):c.2606T>G (p.Val869Gly)
NM_024422.6(DSC2):c.2608G>T (p.Gly870Cys) rs1986689119
NM_024422.6(DSC2):c.2609G>A (p.Gly870Asp)
NM_024422.6(DSC2):c.2624G>T (p.Arg875Leu)
NM_024422.6(DSC2):c.2627A>T (p.Gln876Leu) rs1004351611
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg) rs1986686862
NM_024422.6(DSC2):c.2639G>A (p.Gly880Glu)
NM_024422.6(DSC2):c.2644G>A (p.Glu882Lys) rs1352394486
NM_024422.6(DSC2):c.2664G>C (p.Glu888Asp) rs748675400
NM_024422.6(DSC2):c.2666C>A (p.Pro889His) rs2144780689
NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr) rs1060502988
NM_024422.6(DSC2):c.2684C>G (p.Ala895Gly) rs1986685195
NM_024422.6(DSC2):c.2693G>T (p.Cys898Phe)
NM_024422.6(DSC2):c.2695A>T (p.Met899Leu)
NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu) rs1986683368
NM_024422.6(DSC2):c.286A>T (p.Ile96Leu)
NM_024422.6(DSC2):c.28T>C (p.Trp10Arg) rs1987977039
NM_024422.6(DSC2):c.296C>A (p.Ser99Tyr)
NM_024422.6(DSC2):c.296C>T (p.Ser99Phe)
NM_024422.6(DSC2):c.2T>G (p.Met1Arg)
NM_024422.6(DSC2):c.301A>G (p.Thr101Ala) rs1372970572
NM_024422.6(DSC2):c.309C>A (p.Asn103Lys) rs1484070582
NM_024422.6(DSC2):c.311A>T (p.Gln104Leu) rs1987621652
NM_024422.6(DSC2):c.318G>T (p.Lys106Asn)
NM_024422.6(DSC2):c.324A>T (p.Lys108Asn)
NM_024422.6(DSC2):c.328T>C (p.Phe110Leu)
NM_024422.6(DSC2):c.332T>G (p.Val111Gly)
NM_024422.6(DSC2):c.347A>C (p.Gln116Pro)
NM_024422.6(DSC2):c.355-9T>A
NM_024422.6(DSC2):c.355G>A (p.Val119Ile) rs2144843633
NM_024422.6(DSC2):c.371A>G (p.His124Arg) rs794728061
NM_024422.6(DSC2):c.378A>C (p.Lys126Asn)
NM_024422.6(DSC2):c.38C>T (p.Ala13Val) rs1404155315
NM_024422.6(DSC2):c.397G>C (p.Ala133Pro) rs200218585
NM_024422.6(DSC2):c.401A>G (p.Lys134Arg)
NM_024422.6(DSC2):c.413C>T (p.Ala138Val)
NM_024422.6(DSC2):c.428C>G (p.Ser143Trp)
NM_024422.6(DSC2):c.428C>T (p.Ser143Leu) rs769576778
NM_024422.6(DSC2):c.443C>G (p.Ser148Cys)
NM_024422.6(DSC2):c.448G>T (p.Gly150Cys)
NM_024422.6(DSC2):c.466C>T (p.Leu156Phe) rs2144843013
NM_024422.6(DSC2):c.46C>G (p.Arg16Gly)
NM_024422.6(DSC2):c.474+5C>G
NM_024422.6(DSC2):c.488C>A (p.Thr163Lys) rs758759298
NM_024422.6(DSC2):c.500A>C (p.Tyr167Ser) rs1987523408
NM_024422.6(DSC2):c.503C>G (p.Thr168Ser)
NM_024422.6(DSC2):c.517A>G (p.Ile173Val) rs766855728
NM_024422.6(DSC2):c.530G>C (p.Gly177Ala)
NM_024422.6(DSC2):c.545C>T (p.Pro182Leu)
NM_024422.6(DSC2):c.548G>A (p.Arg183Gln) rs554713834
NM_024422.6(DSC2):c.559T>C (p.Tyr187His) rs1251921612
NM_024422.6(DSC2):c.562G>A (p.Val188Met)
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro) rs876657789
NM_024422.6(DSC2):c.575C>T (p.Thr192Ile) rs2144838831
NM_024422.6(DSC2):c.577_624del (p.Gly193_Ser208del) rs767081975
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser) rs876657787
NM_024422.6(DSC2):c.585G>C (p.Leu195Phe) rs912124448
NM_024422.6(DSC2):c.590G>T (p.Cys197Phe) rs2144838763
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys) rs142331975
NM_024422.6(DSC2):c.610G>A (p.Glu204Lys)
NM_024422.6(DSC2):c.619G>A (p.Glu207Lys) rs200634448
NM_024422.6(DSC2):c.621A>C (p.Glu207Asp) rs2144838603
NM_024422.6(DSC2):c.629A>C (p.Glu210Ala)
NM_024422.6(DSC2):c.62C>T (p.Thr21Ile)
NM_024422.6(DSC2):c.634A>G (p.Ile212Val)
NM_024422.6(DSC2):c.635T>C (p.Ile212Thr) rs1598587612
NM_024422.6(DSC2):c.643G>A (p.Ala215Thr) rs1435574320
NM_024422.6(DSC2):c.647C>T (p.Thr216Ile) rs780448272
NM_024422.6(DSC2):c.656A>T (p.Asp219Val) rs1047981208
NM_024422.6(DSC2):c.665C>T (p.Thr222Ile) rs1987453864
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser) rs762722282
NM_024422.6(DSC2):c.69+5G>A
NM_024422.6(DSC2):c.70A>T (p.Ile24Phe)
NM_024422.6(DSC2):c.713A>G (p.Asp238Gly) rs2144833773
NM_024422.6(DSC2):c.715A>G (p.Asn239Asp) rs774551962
NM_024422.6(DSC2):c.719A>G (p.Tyr240Cys)
NM_024422.6(DSC2):c.721C>G (p.Pro241Ala) rs727505169
NM_024422.6(DSC2):c.721C>T (p.Pro241Ser) rs727505169
NM_024422.6(DSC2):c.734A>G (p.Glu245Gly) rs373201722
NM_024422.6(DSC2):c.739A>G (p.Thr247Ala) rs1567980622
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) rs776784065
NM_024422.6(DSC2):c.748T>A (p.Phe250Ile)
NM_024422.6(DSC2):c.748T>G (p.Phe250Val) rs111556656
NM_024422.6(DSC2):c.752C>A (p.Thr251Lys) rs1987446781
NM_024422.6(DSC2):c.754A>G (p.Ile252Val) rs751996698
NM_024422.6(DSC2):c.76A>G (p.Ile26Val)
NM_024422.6(DSC2):c.772G>A (p.Val258Met) rs1060502992
NM_024422.6(DSC2):c.774G>C (p.Val258=)
NM_024422.6(DSC2):c.775+3_775+6del
NM_024422.6(DSC2):c.776-3T>C rs752192642
NM_024422.6(DSC2):c.776G>A (p.Gly259Asp) rs1335645459
NM_024422.6(DSC2):c.779C>G (p.Thr260Ser)
NM_024422.6(DSC2):c.779C>T (p.Thr260Ile)
NM_024422.6(DSC2):c.782C>T (p.Thr261Ile)
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro) rs966660258
NM_024422.6(DSC2):c.802A>C (p.Thr268Pro) rs201015785
NM_024422.6(DSC2):c.811G>A (p.Asp271Asn)
NM_024422.6(DSC2):c.812A>T (p.Asp271Val) rs1987412406
NM_024422.6(DSC2):c.813T>A (p.Asp271Glu)
NM_024422.6(DSC2):c.826A>G (p.Met276Val)
NM_024422.6(DSC2):c.832A>G (p.Thr278Ala)
NM_024422.6(DSC2):c.841A>C (p.Lys281Gln) rs373697870
NM_024422.6(DSC2):c.844T>C (p.Tyr282His) rs397517405
NM_024422.6(DSC2):c.847T>C (p.Ser283Pro)
NM_024422.6(DSC2):c.848C>G (p.Ser283Cys) rs2144830674
NM_024422.6(DSC2):c.853A>G (p.Ile285Val)
NM_024422.6(DSC2):c.865C>G (p.Pro289Ala) rs200802591
NM_024422.6(DSC2):c.869C>T (p.Pro290Leu)
NM_024422.6(DSC2):c.877A>G (p.Thr293Ala)
NM_024422.6(DSC2):c.928C>G (p.Gln310Glu)
NM_024422.6(DSC2):c.929A>G (p.Gln310Arg)
NM_024422.6(DSC2):c.938G>A (p.Arg313Lys)
NM_024422.6(DSC2):c.940G>A (p.Glu314Lys)
NM_024422.6(DSC2):c.942+5C>T rs2144830111
NM_024422.6(DSC2):c.943-3C>T
NM_024422.6(DSC2):c.943T>C (p.Leu315=) rs2144821693
NM_024422.6(DSC2):c.946A>T (p.Ile316Phe) rs1233598092
NM_024422.6(DSC2):c.959A>C (p.Gln320Pro) rs1481724064
NM_024422.6(DSC2):c.973G>A (p.Val325Ile)
NM_024422.6(DSC2):c.983T>A (p.Met328Lys) rs1987280810
NM_024422.6(DSC2):c.986A>G (p.Asp329Gly)

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