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)
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NM_024422.6(DSC2):c.983T>A (p.Met328Lys)
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rs1987280810
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NM_024422.6(DSC2):c.986A>G (p.Asp329Gly)
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