ClinVar Miner

List of variants reported as uncertain significance for Malignant hyperthermia, susceptibility to, 1

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ClinVar version:
Total variants: 520
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_000540.3(RYR1):c.-69T>G rs886054377 0.00582
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00207
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=) rs368560744 0.00080
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00057
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966 0.00053
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00043
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_000540.3(RYR1):c.11439+9G>A rs369650355 0.00036
NM_000540.3(RYR1):c.10938-9C>T rs201976186 0.00034
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857 0.00031
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=) rs145446438 0.00031
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys) rs547608972 0.00026
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00024
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=) rs377282283 0.00022
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=) rs374630822 0.00022
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) rs143701391 0.00021
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_000540.3(RYR1):c.11034+15G>A rs552725260 0.00019
NM_000540.3(RYR1):c.2160C>G (p.Leu720=) rs200914778 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met) rs191656849 0.00018
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=) rs370350821 0.00018
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00016
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=) rs36042816 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=) rs144350050 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=) rs375402078 0.00014
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) rs141942845 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=) rs771306571 0.00014
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln) rs147515913 0.00013
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=) rs368063600 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.9555G>C (p.Lys3185Asn) rs201080180 0.00013
NM_000540.3(RYR1):c.7904A>T (p.Glu2635Val) rs755651622 0.00012
NM_000540.3(RYR1):c.14196C>A (p.Ile4732=) rs201670423 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=) rs375640581 0.00011
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 0.00010
NM_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 0.00010
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser) rs193922808 0.00010
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys) rs118204421 0.00009
NM_000540.3(RYR1):c.10664A>T (p.Asn3555Ile) rs199689862 0.00009
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg) rs202226983 0.00009
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu) rs151029675 0.00009
NM_000540.3(RYR1):c.6549-9C>T rs370994573 0.00009
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=) rs376851030 0.00008
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile) rs140616359 0.00008
NM_000540.3(RYR1):c.1661A>G (p.Glu554Gly) rs760285455 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_000540.3(RYR1):c.2712G>A (p.Pro904=) rs139339574 0.00008
NM_000540.3(RYR1):c.8310+10A>G rs372730488 0.00008
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=) rs368684717 0.00008
NM_000540.3(RYR1):c.10260-12C>T rs779541890 0.00007
NM_000540.3(RYR1):c.11260-13C>T rs540088883 0.00007
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=) rs571850239 0.00007
NM_000540.3(RYR1):c.2251G>A (p.Val751Met) rs767667578 0.00007
NM_000540.3(RYR1):c.2812G>A (p.Val938Met) rs369182023 0.00007
NM_000540.3(RYR1):c.3311C>T (p.Ala1104Val) rs149096607 0.00007
NM_000540.3(RYR1):c.3495C>T (p.Gly1165=) rs772616442 0.00007
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=) rs143418190 0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_000540.3(RYR1):c.7028-8G>A rs147390699 0.00007
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_000540.3(RYR1):c.9800C>T (p.Pro3267Leu) rs200375946 0.00007
NM_000540.3(RYR1):c.10492C>G (p.Arg3498Gly) rs201358408 0.00006
NM_000540.3(RYR1):c.10938-11C>T rs760754746 0.00006
NM_000540.3(RYR1):c.10938-12T>A rs767711818 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_000540.3(RYR1):c.14901C>G (p.Asp4967Glu) rs201712715 0.00006
NM_000540.3(RYR1):c.14915C>T (p.Thr4972Ile) rs199866740 0.00006
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn) rs193922749 0.00006
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile) rs369281291 0.00006
NM_000540.3(RYR1):c.2711C>T (p.Pro904Leu) rs544742812 0.00006
NM_000540.3(RYR1):c.2844C>T (p.Asn948=) rs761045773 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000540.3(RYR1):c.4620+13C>T rs201971363 0.00006
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=) rs772422894 0.00006
NM_000540.3(RYR1):c.5921G>A (p.Arg1974Gln) rs748907487 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_000540.3(RYR1):c.7487C>T (p.Pro2496Leu) rs193922817 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000540.3(RYR1):c.12242C>T (p.Thr4081Met) rs373406011 0.00005
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=) rs201157293 0.00005
NM_000540.3(RYR1):c.1956G>A (p.Ala652=) rs202105428 0.00005
NM_000540.3(RYR1):c.2835G>A (p.Ala945=) rs576990255 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys) rs753701890 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.4931A>G (p.Asn1644Ser) rs1057519109 0.00005
NM_000540.3(RYR1):c.9555-4C>T rs1417337927 0.00005
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=) rs770132934 0.00004
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.11778+3G>C rs758215068 0.00004
NM_000540.3(RYR1):c.12028G>A (p.Glu4010Lys) rs755088027 0.00004
NM_000540.3(RYR1):c.13760C>T (p.Pro4587Leu) rs143520367 0.00004
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860 0.00004
NM_000540.3(RYR1):c.13998+3G>A rs765404523 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met) rs148540135 0.00004
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=) rs763954439 0.00004
NM_000540.3(RYR1):c.2467G>C (p.Glu823Gln) rs370490388 0.00004
NM_000540.3(RYR1):c.2659G>A (p.Glu887Lys) rs766827383 0.00004
NM_000540.3(RYR1):c.3208C>T (p.Arg1070Trp) rs368950468 0.00004
NM_000540.3(RYR1):c.3548T>C (p.Ile1183Thr) rs761386401 0.00004
NM_000540.3(RYR1):c.4213C>A (p.Pro1405Thr) rs376567445 0.00004
NM_000540.3(RYR1):c.4759G>A (p.Ala1587Thr) rs1030955858 0.00004
NM_000540.3(RYR1):c.6671G>A (p.Arg2224His) rs537994744 0.00004
NM_000540.3(RYR1):c.7204C>T (p.Arg2402Trp) rs575780192 0.00004
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=) rs781110591 0.00004
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420 0.00004
NM_000540.3(RYR1):c.9091G>A (p.Ala3031Thr) rs756311466 0.00004
NM_000540.3(RYR1):c.9477C>T (p.Asp3159=) rs139409128 0.00004
NM_000540.3(RYR1):c.10053G>A (p.Pro3351=) rs774096421 0.00003
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe) rs752477271 0.00003
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp) rs140037232 0.00003
NM_000540.3(RYR1):c.11193+15C>G rs370928637 0.00003
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=) rs1292456827 0.00003
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.2937G>A (p.Ala979=) rs775442275 0.00003
NM_000540.3(RYR1):c.2995C>T (p.Arg999Cys) rs150442096 0.00003
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=) rs201310026 0.00003
NM_000540.3(RYR1):c.6211C>T (p.Arg2071Trp) rs147441124 0.00003
NM_000540.3(RYR1):c.6343G>A (p.Glu2115Lys) rs147197176 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.7210G>A (p.Glu2404Lys) rs111364296 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=) rs768702294 0.00003
NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr) rs536813036 0.00003
NM_000540.3(RYR1):c.8416C>T (p.Arg2806Cys) rs772769577 0.00003
NM_000540.3(RYR1):c.8686G>A (p.Ala2896Thr) rs886054397 0.00003
NM_000540.3(RYR1):c.9347C>T (p.Ser3116Leu) rs200238436 0.00003
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu) rs193922761 0.00003
NM_000540.3(RYR1):c.-31C>T rs375755030 0.00002
NM_000540.3(RYR1):c.10183C>T (p.Arg3395Trp) rs761996554 0.00002
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=) rs774663618 0.00002
NM_000540.3(RYR1):c.10422C>G (p.Asn3474Lys) rs769661588 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=) rs757745087 0.00002
NM_000540.3(RYR1):c.11726C>T (p.Thr3909Met) rs762258310 0.00002
NM_000540.3(RYR1):c.12064A>G (p.Met4022Val) rs773040531 0.00002
NM_000540.3(RYR1):c.12355A>T (p.Asn4119Tyr) rs193922848 0.00002
NM_000540.3(RYR1):c.12624+9A>G rs548515798 0.00002
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=) rs2302296 0.00002
NM_000540.3(RYR1):c.13867G>A (p.Asp4623Asn) rs547709829 0.00002
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=) rs770698609 0.00002
NM_000540.3(RYR1):c.2447C>T (p.Pro816Leu) rs376149732 0.00002
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=) rs569565316 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=) rs144164620 0.00002
NM_000540.3(RYR1):c.3319G>A (p.Glu1107Lys) rs777117206 0.00002
NM_000540.3(RYR1):c.4205C>T (p.Pro1402Leu) rs766135560 0.00002
NM_000540.3(RYR1):c.4520G>A (p.Arg1507Gln) rs758206000 0.00002
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=) rs374115286 0.00002
NM_000540.3(RYR1):c.49G>A (p.Asp17Asn) rs755878800 0.00002
NM_000540.3(RYR1):c.619C>T (p.Arg207Cys) rs748140394 0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val) rs193922791 0.00002
NM_000540.3(RYR1):c.6743G>A (p.Arg2248His) rs140152019 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=) rs375997435 0.00002
NM_000540.3(RYR1):c.7778G>A (p.Arg2593His) rs751180702 0.00002
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=) rs762212220 0.00002
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=) rs761622550 0.00002
NM_000540.3(RYR1):c.907G>A (p.Ala303Thr) rs141764906 0.00002
NM_000540.3(RYR1):c.9122+8G>A rs772116480 0.00002
NM_000540.3(RYR1):c.9555-14G>A rs763353979 0.00002
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=) rs753425281 0.00002
NM_000540.3(RYR1):c.9971T>C (p.Val3324Ala) rs141515745 0.00002
NM_000540.3(RYR1):c.-118G>A rs1972297039 0.00001
NM_000540.3(RYR1):c.10010G>A (p.Arg3337Gln) rs868761398 0.00001
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His) rs193922834 0.00001
NM_000540.3(RYR1):c.10441-8T>C rs755330618 0.00001
NM_000540.3(RYR1):c.10760A>G (p.Asp3587Gly) rs778763130 0.00001
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln) rs113332073 0.00001
NM_000540.3(RYR1):c.1100G>T (p.Arg367Leu) rs113332073 0.00001
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=) rs776123178 0.00001
NM_000540.3(RYR1):c.11731A>G (p.Thr3911Ala) rs200622493 0.00001
NM_000540.3(RYR1):c.11735T>A (p.Ile3912Asn) rs150588606 0.00001
NM_000540.3(RYR1):c.12121C>T (p.Arg4041Trp) rs144685735 0.00001
NM_000540.3(RYR1):c.1218C>T (p.Thr406=) rs3745846 0.00001
NM_000540.3(RYR1):c.12218C>T (p.Ser4073Phe) rs763042731 0.00001
NM_000540.3(RYR1):c.12219T>A (p.Ser4073=) rs764395582 0.00001
NM_000540.3(RYR1):c.12251G>A (p.Arg4084His) rs779380542 0.00001
NM_000540.3(RYR1):c.12747G>C (p.Gln4249His) rs1232214674 0.00001
NM_000540.3(RYR1):c.12802G>A (p.Ala4268Thr) rs886054404 0.00001
NM_000540.3(RYR1):c.13081T>A (p.Ser4361Thr) rs746798861 0.00001
NM_000540.3(RYR1):c.13089C>A (p.Phe4363Leu) rs757097846 0.00001
NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly) rs794727983 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13334C>G (p.Pro4445Arg) rs905232339 0.00001
NM_000540.3(RYR1):c.13370T>G (p.Met4457Arg) rs1394722307 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.13807G>C (p.Gly4603Arg) rs373231458 0.00001
NM_000540.3(RYR1):c.14129+10C>A rs546280470 0.00001
NM_000540.3(RYR1):c.14167C>T (p.Arg4723Cys) rs200473035 0.00001
NM_000540.3(RYR1):c.14189G>T (p.Gly4730Val) rs763466452 0.00001
NM_000540.3(RYR1):c.14204G>A (p.Arg4735Gln) rs754190031 0.00001
NM_000540.3(RYR1):c.14273A>G (p.Lys4758Arg) rs1974034199 0.00001
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=) rs886054411 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser) rs373301841 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.1943T>C (p.Phe648Ser) rs1251940779 0.00001
NM_000540.3(RYR1):c.199G>A (p.Val67Ile) rs761182247 0.00001
NM_000540.3(RYR1):c.2173G>A (p.Val725Met) rs200698933 0.00001
NM_000540.3(RYR1):c.2255C>T (p.Pro752Leu) rs201229451 0.00001
NM_000540.3(RYR1):c.2437G>T (p.Ala813Ser) rs558181103 0.00001
NM_000540.3(RYR1):c.2461C>A (p.His821Asn) rs764127808 0.00001
NM_000540.3(RYR1):c.2533C>T (p.Leu845Phe) rs201545585 0.00001
NM_000540.3(RYR1):c.255G>T (p.Val85=) rs532101469 0.00001
NM_000540.3(RYR1):c.2646G>A (p.Ala882=) rs375163703 0.00001
NM_000540.3(RYR1):c.2682+13C>T rs745844424 0.00001
NM_000540.3(RYR1):c.2823G>A (p.Ala941=) rs750305530 0.00001
NM_000540.3(RYR1):c.2924G>A (p.Arg975Gln) rs778241277 0.00001
NM_000540.3(RYR1):c.3055C>T (p.Arg1019Trp) rs757715804 0.00001
NM_000540.3(RYR1):c.3257G>A (p.Arg1086His) rs764009626 0.00001
NM_000540.3(RYR1):c.3396C>G (p.His1132Gln) rs572636254 0.00001
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys) rs193922776 0.00001
NM_000540.3(RYR1):c.3424del (p.Trp1142fs) rs1168352165 0.00001
NM_000540.3(RYR1):c.3431C>T (p.Pro1144Leu) rs201940876 0.00001
NM_000540.3(RYR1):c.3679A>G (p.Ile1227Val) rs746166976 0.00001
NM_000540.3(RYR1):c.376A>G (p.Met126Val) rs146065960 0.00001
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=) rs763082630 0.00001
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=) rs915321867 0.00001
NM_000540.3(RYR1):c.4061A>C (p.Glu1354Ala) rs1458779012 0.00001
NM_000540.3(RYR1):c.4122T>A (p.Asn1374Lys) rs886054382 0.00001
NM_000540.3(RYR1):c.4259G>A (p.Arg1420His) rs150499158 0.00001
NM_000540.3(RYR1):c.4400A>G (p.Lys1467Arg) rs145573319 0.00001
NM_000540.3(RYR1):c.4480G>C (p.Val1494Leu) rs886054387 0.00001
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=) rs886038331 0.00001
NM_000540.3(RYR1):c.4495T>G (p.Phe1499Val) rs1375580585 0.00001
NM_000540.3(RYR1):c.4533G>A (p.Thr1511=) rs147901772 0.00001
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=) rs200600174 0.00001
NM_000540.3(RYR1):c.4744G>A (p.Glu1582Lys) rs1200734670 0.00001
NM_000540.3(RYR1):c.4775C>T (p.Pro1592Leu) rs193922777 0.00001
NM_000540.3(RYR1):c.4853G>A (p.Arg1618His) rs957392274 0.00001
NM_000540.3(RYR1):c.488G>A (p.Arg163His) rs193922753 0.00001
NM_000540.3(RYR1):c.5033A>G (p.Asn1678Ser) rs781104539 0.00001
NM_000540.3(RYR1):c.5132A>G (p.Tyr1711Cys) rs754785770 0.00001
NM_000540.3(RYR1):c.550G>A (p.Ala184Thr) rs766256366 0.00001
NM_000540.3(RYR1):c.5548-9G>T rs776320867 0.00001
NM_000540.3(RYR1):c.5980C>T (p.Arg1994Cys) rs369167120 0.00001
NM_000540.3(RYR1):c.6128-3C>T rs775568216 0.00001
NM_000540.3(RYR1):c.6139G>C (p.Asp2047His) rs763963516 0.00001
NM_000540.3(RYR1):c.6301A>G (p.Met2101Val) rs531823936 0.00001
NM_000540.3(RYR1):c.6388G>A (p.Gly2130Arg) rs193922789 0.00001
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His) rs530885842 0.00001
NM_000540.3(RYR1):c.652G>A (p.Val218Ile) rs193922759 0.00001
NM_000540.3(RYR1):c.6549-8G>A rs756593088 0.00001
NM_000540.3(RYR1):c.6607A>G (p.Met2203Val) rs200203904 0.00001
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys) rs201465595 0.00001
NM_000540.3(RYR1):c.683A>G (p.Glu228Gly) rs1260538999 0.00001
NM_000540.3(RYR1):c.7028-10G>A rs1005260620 0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met) rs193922799 0.00001
NM_000540.3(RYR1):c.7075C>T (p.Arg2359Trp) rs769482889 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7385C>T (p.Pro2462Leu) rs551223467 0.00001
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=) rs758872814 0.00001
NM_000540.3(RYR1):c.7640C>T (p.Ala2547Val) rs751482960 0.00001
NM_000540.3(RYR1):c.7813G>A (p.Asp2605Asn) rs754339645 0.00001
NM_000540.3(RYR1):c.7857G>A (p.Leu2619=) rs547048377 0.00001
NM_000540.3(RYR1):c.7859A>C (p.Gln2620Pro) rs1425983637 0.00001
NM_000540.3(RYR1):c.8254G>T (p.Asp2752Tyr) rs768299986 0.00001
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser) rs369040621 0.00001
NM_000540.3(RYR1):c.8550T>C (p.Asp2850=) rs767925886 0.00001
NM_000540.3(RYR1):c.8692+15G>A rs1219182533 0.00001
NM_000540.3(RYR1):c.880G>A (p.Glu294Lys) rs779597449 0.00001
NM_000540.3(RYR1):c.9001-8G>A rs768611849 0.00001
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=) rs144067910 0.00001
NM_000540.3(RYR1):c.946C>T (p.Arg316Cys) rs752652072 0.00001
NM_000540.3(RYR1):c.9554+13A>T rs1265960627 0.00001
NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp) rs1376794459 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.9638A>G (p.Tyr3213Cys) rs886054398 0.00001
NM_000540.3(RYR1):c.9685+8G>T rs752615788 0.00001
NM_000540.3(RYR1):c.9685A>G (p.Ile3229Val) rs1449733977 0.00001
NM_000540.3(RYR1):c.9703A>C (p.Ser3235Arg) rs747488155 0.00001
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=) rs764290955 0.00001
NM_000540.3(RYR1):c.-61A>C rs1192726936
NM_000540.3(RYR1):c.-65G>C rs1204515719
NM_000540.3(RYR1):c.-69T>C rs886054377
NM_000540.3(RYR1):c.-74A>C rs886054375
NM_000540.3(RYR1):c.10046C>G (p.Ala3349Gly) rs199531105
NM_000540.3(RYR1):c.10118T>G (p.Val3373Gly)
NM_000540.3(RYR1):c.10229C>A (p.Pro3410Gln) rs769196275
NM_000540.3(RYR1):c.10237A>T (p.Ile3413Phe) rs2145689573
NM_000540.3(RYR1):c.10241G>A (p.Arg3414His)
NM_000540.3(RYR1):c.1024G>A (p.Glu342Lys) rs2145361853
NM_000540.3(RYR1):c.10252A>G (p.Asn3418Asp) rs2145689666
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=) rs778171066
NM_000540.3(RYR1):c.10466C>G (p.Ser3489Trp) rs764263987
NM_000540.3(RYR1):c.10477C>T (p.Arg3493Cys) rs750367227
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu) rs1600921854
NM_000540.3(RYR1):c.10656T>C (p.Phe3552=) rs1971495978
NM_000540.3(RYR1):c.10702T>G (p.Ser3568Ala) rs772784769
NM_000540.3(RYR1):c.10750G>C (p.Glu3584Gln) rs1600930723
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=) rs141542477
NM_000540.3(RYR1):c.10824+13G>A rs756468318
NM_000540.3(RYR1):c.10891G>T (p.Ala3631Ser) rs1367333710
NM_000540.3(RYR1):c.10910G>A (p.Arg3637His) rs747528384
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000540.3(RYR1):c.11077AAG[1] (p.Lys3694del)
NM_000540.3(RYR1):c.11086G>C (p.Asp3696His) rs2145724998
NM_000540.3(RYR1):c.11119C>T (p.Arg3707Cys) rs781379239
NM_000540.3(RYR1):c.11120G>T (p.Arg3707Leu) rs193922838
NM_000540.3(RYR1):c.11126C>T (p.Ala3709Val) rs1555791418
NM_000540.3(RYR1):c.11132C>T (p.Thr3711Met) rs375915752
NM_000540.3(RYR1):c.11138A>G (p.Lys3713Arg) rs1971614117
NM_000540.3(RYR1):c.1144C>A (p.His382Asn) rs2145374470
NM_000540.3(RYR1):c.11623G>A (p.Ala3875Thr) rs764309886
NM_000540.3(RYR1):c.11723A>T (p.Asn3908Ile) rs141803364
NM_000540.3(RYR1):c.11748T>G (p.Ile3916Met) rs193922840
NM_000540.3(RYR1):c.11813G>A (p.Gly3938Asp) rs1972296024
NM_000540.3(RYR1):c.11819A>G (p.Asp3940Gly) rs1972296147
NM_000540.3(RYR1):c.11907+8G>A rs886054402
NM_000540.3(RYR1):c.11933G>A (p.Ser3978Asn)
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys) rs1600989183
NM_000540.3(RYR1):c.11953T>C (p.Trp3985Arg) rs118204422
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.3(RYR1):c.119G>C (p.Gly40Ala) rs2145320724
NM_000540.3(RYR1):c.1201C>A (p.Arg401Ser) rs193922764
NM_000540.3(RYR1):c.12024G>C (p.Gln4008His) rs1972429144
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.12115A>T (p.Ile4039Phe) rs2145790232
NM_000540.3(RYR1):c.12373G>A (p.Glu4125Lys) rs1973119741
NM_000540.3(RYR1):c.12383C>T (p.Ala4128Val) rs2145830877
NM_000540.3(RYR1):c.12503_12504delinsTT (p.Ser4168Ile) rs1973128519
NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser) rs1057518885
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del) rs1238215145
NM_000540.3(RYR1):c.125G>A (p.Gly42Asp) rs1972639264
NM_000540.3(RYR1):c.1263C>A (p.Ser421Arg)
NM_000540.3(RYR1):c.1291G>A (p.Ala431Thr) rs768357333
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=) rs886054405
NM_000540.3(RYR1):c.13091G>C (p.Gly4364Ala) rs1973361809
NM_000540.3(RYR1):c.13128G>A (p.Val4376=) rs886054406
NM_000540.3(RYR1):c.13342C>T (p.Pro4448Ser) rs886054407
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=) rs886054410
NM_000540.3(RYR1):c.13616G>A (p.Gly4539Asp) rs1599641292
NM_000540.3(RYR1):c.13699G>T (p.Ala4567Ser) rs371441593
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val) rs1599646668
NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys) rs199592055
NM_000540.3(RYR1):c.13918A>G (p.Met4640Val) rs756850145
NM_000540.3(RYR1):c.1422G>T (p.Gln474His) rs193922767
NM_000540.3(RYR1):c.14288C>A (p.Pro4763Gln) rs1974035851
NM_000540.3(RYR1):c.14385G>T (p.Trp4795Cys)
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.1440+13C>T rs774459267
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.1441-12T>C rs760987340
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14647-3_14647del rs1568611362
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys) rs199826952
NM_000540.3(RYR1):c.14773G>A (p.Val4925Ile) rs959737076
NM_000540.3(RYR1):c.14813T>C (p.Ile4938Thr) rs111657878
NM_000540.3(RYR1):c.14825G>T (p.Gly4942Val) rs193922896
NM_000540.3(RYR1):c.14879T>A (p.Phe4960Tyr) rs193922898
NM_000540.3(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.3(RYR1):c.14981T>C (p.Met4994Thr) rs886054412
NM_000540.3(RYR1):c.15073G>A (p.Ala5025Thr) rs1057519258
NM_000540.3(RYR1):c.15098A>G (p.Tyr5033Cys) rs201765762
NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser) rs193922768
NM_000540.3(RYR1):c.1753A>G (p.Ile585Val) rs200770015
NM_000540.3(RYR1):c.178G>T (p.Asp60Tyr) rs118192160
NM_000540.3(RYR1):c.1808G>A (p.Cys603Tyr) rs886054380
NM_000540.3(RYR1):c.1808_1823del (p.Cys603fs) rs869312738
NM_000540.3(RYR1):c.1834G>C (p.Ala612Pro) rs118204423
NM_000540.3(RYR1):c.1925+1G>C rs1967488222
NM_000540.3(RYR1):c.2050G>C (p.Gly684Arg) rs747177274
NM_000540.3(RYR1):c.2075C>T (p.Thr692Ile) rs869312735
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.2164A>G (p.Thr722Ala) rs1183569355
NM_000540.3(RYR1):c.236A>T (p.Glu79Val)
NM_000540.3(RYR1):c.2537C>T (p.Ser846Leu) rs193922775
NM_000540.3(RYR1):c.2697C>A (p.Asn899Lys) rs201401814
NM_000540.3(RYR1):c.2787-15C>G
NM_000540.3(RYR1):c.2824G>A (p.Asp942Asn) rs869312736
NM_000540.3(RYR1):c.2830A>T (p.Lys944Ter)
NM_000540.3(RYR1):c.2936C>G (p.Ala979Gly) rs769902566
NM_000540.3(RYR1):c.3166G>A (p.Asp1056Asn) rs2145447772
NM_000540.3(RYR1):c.3172G>A (p.Glu1058Lys) rs1968107192
NM_000540.3(RYR1):c.3410C>T (p.Pro1137Leu) rs1225931762
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.3420C>T (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.3526A>G (p.Thr1176Ala) rs1968278835
NM_000540.3(RYR1):c.3656A>C (p.Gln1219Pro) rs2145463700
NM_000540.3(RYR1):c.3820C>G (p.Arg1274Gly) rs1425575552
NM_000540.3(RYR1):c.4160+8G>T rs886054383
NM_000540.3(RYR1):c.4182G>T (p.Lys1394Asn) rs886054384
NM_000540.3(RYR1):c.4226G>A (p.Arg1409Gln)
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=) rs886054385
NM_000540.3(RYR1):c.4269C>G (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.4322G>T (p.Gly1441Val) rs1968805897
NM_000540.3(RYR1):c.4342T>C (p.Trp1448Arg) rs886054386
NM_000540.3(RYR1):c.4550G>A (p.Cys1517Tyr)
NM_000540.3(RYR1):c.455C>A (p.Ala152Asp) rs1555763641
NM_000540.3(RYR1):c.467G>A (p.Arg156Lys) rs193922751
NM_000540.3(RYR1):c.479A>G (p.Glu160Gly) rs193922752
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.3(RYR1):c.487C>A (p.Arg163Ser) rs118192161
NM_000540.3(RYR1):c.493G>A (p.Gly165Arg) rs193922754
NM_000540.3(RYR1):c.496G>A (p.Asp166Asn) rs193922755
NM_000540.3(RYR1):c.497A>G (p.Asp166Gly) rs193922756
NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys) rs1182258955
NM_000540.3(RYR1):c.5025G>C (p.Leu1675=) rs886054388
NM_000540.3(RYR1):c.5176C>T (p.Arg1726Cys)
NM_000540.3(RYR1):c.5186T>G (p.Met1729Arg) rs193922782
NM_000540.3(RYR1):c.5206C>T (p.Pro1736Ser)
NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) rs377476955
NM_000540.3(RYR1):c.5308T>G (p.Ser1770Ala) rs571494344
NM_000540.3(RYR1):c.5318C>G (p.Pro1773Arg) rs1969269453
NM_000540.3(RYR1):c.533A>C (p.Tyr178Ser) rs193922758
NM_000540.3(RYR1):c.537+12C>A rs779869638
NM_000540.3(RYR1):c.5441T>A (p.Met1814Lys) rs193922783
NM_000540.3(RYR1):c.5492G>C (p.Gly1831Ala) rs1290969196
NM_000540.3(RYR1):c.5525T>C (p.Leu1842Pro) rs886054390
NM_000540.3(RYR1):c.5584A>C (p.Ile1862Leu) rs886054391
NM_000540.3(RYR1):c.5607G>T (p.Glu1869Asp) rs1043076830
NM_000540.3(RYR1):c.5620G>A (p.Glu1874Lys) rs1969440508
NM_000540.3(RYR1):c.5910G>A (p.Gln1970=) rs1555780327
NM_000540.3(RYR1):c.5G>C (p.Gly2Ala) rs886054378
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.6037A>C (p.Lys2013Gln) rs2145564171
NM_000540.3(RYR1):c.6082C>G (p.Arg2028Gly) rs773540275
NM_000540.3(RYR1):c.6126_6127del (p.Cys2042fs)
NM_000540.3(RYR1):c.6128-13T>G rs1969594703
NM_000540.3(RYR1):c.6191T>G (p.Met2064Arg) rs200388510
NM_000540.3(RYR1):c.6192G>A (p.Met2064Ile) rs372066850
NM_000540.3(RYR1):c.6194G>A (p.Ser2065Asn)
NM_000540.3(RYR1):c.6262G>A (p.Glu2088Lys) rs587784378
NM_000540.3(RYR1):c.6304G>C (p.Val2102Leu) rs770593660
NM_000540.3(RYR1):c.640A>G (p.Thr214Ala) rs769650157
NM_000540.3(RYR1):c.6544A>T (p.Ile2182Phe) rs193922790
NM_000540.3(RYR1):c.6548G>A (p.Gly2183Glu) rs959170123
NM_000540.3(RYR1):c.6599C>G (p.Ala2200Gly) rs193922791
NM_000540.3(RYR1):c.6635T>A (p.Val2212Asp) rs193922793
NM_000540.3(RYR1):c.663C>T (p.Leu221=) rs761319979
NM_000540.3(RYR1):c.6688A>T (p.Thr2230Ser) rs200630616
NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr) rs2145586397
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr) rs917523269
NM_000540.3(RYR1):c.677T>A (p.Met226Lys) rs112596687
NM_000540.3(RYR1):c.6799A>G (p.Met2267Val) rs886054393
NM_000540.3(RYR1):c.680A>T (p.Asp227Val) rs193922760
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His) rs118192121
NM_000540.3(RYR1):c.7028-11C>G rs369342449
NM_000540.3(RYR1):c.7073T>A (p.Ile2358Asn) rs1600820232
NM_000540.3(RYR1):c.7085A>G (p.Glu2362Gly) rs193922804
NM_000540.3(RYR1):c.7089C>G (p.Cys2363Trp) rs2228071
NM_000540.3(RYR1):c.7097C>G (p.Pro2366Arg) rs193922806
NM_000540.3(RYR1):c.7112A>G (p.Glu2371Gly) rs2145600668
NM_000540.3(RYR1):c.7140C>T (p.Ile2380=) rs573431795
NM_000540.3(RYR1):c.7292A>T (p.Asp2431Val) rs2145602229
NM_000540.3(RYR1):c.7317G>C (p.Glu2439Asp) rs193922813
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.7355G>C (p.Arg2452Pro) rs193922815
NM_000540.3(RYR1):c.7376C>T (p.Ser2459Phe)
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
NM_000540.3(RYR1):c.7559A>G (p.His2520Arg)
NM_000540.3(RYR1):c.7684A>G (p.Ile2562Val) rs1359576805
NM_000540.3(RYR1):c.76A>C (p.Thr26Pro) rs1972635177
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=) rs1477392994
NM_000540.3(RYR1):c.7787C>G (p.Thr2596Ser) rs193922824
NM_000540.3(RYR1):c.7836-3C>T rs1345584460
NM_000540.3(RYR1):c.7836-6C>T rs780269941
NM_000540.3(RYR1):c.7847del (p.Pro2616fs) rs1970255367
NM_000540.3(RYR1):c.7874G>T (p.Arg2625Leu) rs751301767
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=) rs148907377
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly) rs747337318
NM_000540.3(RYR1):c.7927-7C>T rs886054395
NM_000540.3(RYR1):c.7958A>G (p.Lys2653Arg) rs199864636
NM_000540.3(RYR1):c.7992C>G (p.Phe2664Leu) rs150620191
NM_000540.3(RYR1):c.8042G>C (p.Gly2681Ala) rs1970341837
NM_000540.3(RYR1):c.8054C>T (p.Ser2685Phe) rs781126470
NM_000540.3(RYR1):c.8155T>C (p.Tyr2719His) rs200920798
NM_000540.3(RYR1):c.8231+1G>A rs869312737
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.8546A>G (p.Tyr2849Cys) rs1970446266
NM_000540.3(RYR1):c.8662C>T (p.Arg2888Trp) rs1234488220
NM_000540.3(RYR1):c.8743G>A (p.Glu2915Lys) rs1970479129
NM_000540.3(RYR1):c.874C>T (p.Leu292Phe) rs1966901541
NM_000540.3(RYR1):c.8901G>A (p.Met2967Ile) rs1970544424
NM_000540.3(RYR1):c.9123-14T>G rs2145659049
NM_000540.3(RYR1):c.9217C>T (p.Arg3073Cys)
NM_000540.3(RYR1):c.9513T>C (p.Ser3171=) rs1568524980
NM_000540.3(RYR1):c.9581T>C (p.Leu3194Pro) rs1970955432
NM_000540.3(RYR1):c.9643G>A (p.Ala3215Thr) rs745421419
NM_000540.3(RYR1):c.9718T>C (p.Cys3240Arg) rs979989952
NM_000540.3(RYR1):c.9726C>T (p.Asp3242=) rs1971019633
NM_000540.3(RYR1):c.9784C>T (p.Arg3262Cys) rs557030813
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=) rs776468955
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) rs1438501767

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