ClinVar Miner

Variants with conflicting interpretations studied for Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5

Coded as:
Minimum review status of the submission for Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5: Collection method of the submission for Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1007 764 1 111 308 2 34 430

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 1 12 17 0 0 1
likely pathogenic 2 0 14 1 0 1
uncertain significance 0 2 0 21 2 0
likely benign 0 0 233 0 26 0
benign 0 0 53 71 0 0

Condition to condition summary #

Total conditions: 17
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Malignant hyperthermia, susceptibility to, 5 0 746 1 74 248 0 26 345
not provided 0 243 0 44 148 0 9 198
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 0 92 0 4 84 0 1 89
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 0 114 0 20 57 0 1 78
not specified 0 138 0 36 13 0 3 51
Thyrotoxic periodic paralysis, susceptibility to, 1 0 279 0 36 13 0 0 49
CACNA1S-related disorder 0 54 0 8 11 0 2 21
Malignant hyperthermia, susceptibility to, 1 0 0 0 0 1 0 1 2
desflurane response - Toxicity 0 0 0 0 0 2 0 2
enflurane response - Toxicity 0 0 0 0 0 2 0 2
halothane response - Toxicity 0 0 0 0 0 2 0 2
isoflurane response - Toxicity 0 0 0 0 0 2 0 2
methoxyflurane response - Toxicity 0 0 0 0 0 2 0 2
sevoflurane response - Toxicity 0 0 0 0 0 2 0 2
succinylcholine response - Toxicity 0 0 0 0 0 2 0 2
Fetal anomalies with a likely genetic cause 0 0 0 0 0 0 1 1
Hypokalemic periodic paralysis, type 1; Thyrotoxic periodic paralysis, susceptibility to, 1 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 430
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02302
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00730
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077 0.00573
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824 0.00433
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505 0.00409
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817 0.00246
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00234
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156 0.00172
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302 0.00159
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 0.00133
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986 0.00121
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884 0.00100
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00098
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_000069.3(CACNA1S):c.900+14C>T rs377170574 0.00093
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418 0.00076
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720 0.00076
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met) rs367577681 0.00070
NM_000069.3(CACNA1S):c.4338+13G>T rs370782181 0.00066
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_000069.3(CACNA1S):c.3796-11C>T rs369565379 0.00056
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317 0.00055
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=) rs141808465 0.00053
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919 0.00053
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745 0.00052
NM_000069.3(CACNA1S):c.4339-14G>A rs200570483 0.00051
NM_000069.3(CACNA1S):c.1112C>T (p.Thr371Met) rs150954040 0.00047
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324 0.00046
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274 0.00045
NM_000069.3(CACNA1S):c.1382C>T (p.Thr461Ile) rs143202536 0.00032
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131 0.00032
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583 0.00030
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525 0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000069.3(CACNA1S):c.542-13C>T rs199502458 0.00029
NM_000069.3(CACNA1S):c.4114-3C>T rs182873269 0.00028
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=) rs189129662 0.00027
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405 0.00026
NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp) rs141618437 0.00026
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys) rs147392278 0.00024
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212 0.00022
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000069.3(CACNA1S):c.1949-7C>T rs368564115 0.00021
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala) rs200765341 0.00021
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694 0.00021
NM_000069.3(CACNA1S):c.1620-15C>T rs374877250 0.00019
NM_000069.3(CACNA1S):c.3256-12T>A rs374335683 0.00019
NM_000069.3(CACNA1S):c.5531G>C (p.Ser1844Thr) rs145195149 0.00019
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546 0.00018
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val) rs201784750 0.00018
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly) rs151218760 0.00017
NM_000069.3(CACNA1S):c.3609C>T (p.Asp1203=) rs374324793 0.00017
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp) rs138541733 0.00016
NM_000069.3(CACNA1S):c.2490+5C>T rs369813191 0.00016
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322 0.00015
NM_000069.3(CACNA1S):c.258+6A>G rs376899610 0.00015
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00015
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714 0.00015
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu) rs150646872 0.00014
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094 0.00014
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103 0.00014
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys) rs138364213 0.00013
NM_000069.3(CACNA1S):c.2906+17G>A rs202089480 0.00013
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe) rs556751671 0.00013
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451 0.00012
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) rs146696748 0.00012
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452 0.00011
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His) rs370861322 0.00011
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala) rs369192794 0.00011
NM_000069.3(CACNA1S):c.3415-13G>T rs755431424 0.00011
NM_000069.3(CACNA1S):c.3796-14C>T rs377210987 0.00011
NM_000069.3(CACNA1S):c.4504A>G (p.Ser1502Gly) rs1263776472 0.00011
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp) rs757433005 0.00011
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) rs146619460 0.00011
NM_000069.3(CACNA1S):c.4858C>G (p.Pro1620Ala) rs199691275 0.00011
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) rs145340252 0.00011
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=) rs773209639 0.00011
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala) rs202217590 0.00010
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met) rs200334886 0.00010
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=) rs140924492 0.00010
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His) rs747618077 0.00010
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890 0.00010
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr) rs200434921 0.00010
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077 0.00009
NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=) rs373712202 0.00009
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His) rs748711395 0.00009
NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=) rs145689664 0.00009
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr) rs551510986 0.00009
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile) rs138837077 0.00009
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile) rs202240111 0.00009
NM_000069.3(CACNA1S):c.181A>G (p.Ile61Val) rs147382463 0.00008
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp) rs199758244 0.00008
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=) rs200898535 0.00008
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg) rs751048080 0.00008
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn) rs112236248 0.00007
NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys) rs200165212 0.00007
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val) rs138708497 0.00007
NM_000069.3(CACNA1S):c.3143A>G (p.Tyr1048Cys) rs745571736 0.00007
NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val) rs142286187 0.00007
NM_000069.3(CACNA1S):c.3741G>A (p.Leu1247=) rs764626621 0.00007
NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys) rs146158332 0.00007
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) rs149036408 0.00007
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln) rs372436488 0.00007
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu) rs202120583 0.00007
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met) rs370661912 0.00007
NM_000069.3(CACNA1S):c.948C>T (p.Thr316=) rs149079621 0.00007
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298 0.00006
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr) rs144590408 0.00006
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met) rs771706267 0.00006
NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln) rs553619980 0.00006
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) rs200646947 0.00006
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys) rs375318710 0.00006
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr) rs753901380 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser) rs145039828 0.00006
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln) rs530655602 0.00006
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys) rs201257304 0.00006
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys) rs533353353 0.00006
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile) rs756066219 0.00006
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys) rs141556780 0.00006
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081 0.00005
NM_000069.3(CACNA1S):c.1265G>A (p.Arg422His) rs768968718 0.00005
NM_000069.3(CACNA1S):c.1314G>A (p.Val438=) rs146400205 0.00005
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val) rs369139165 0.00005
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793 0.00005
NM_000069.3(CACNA1S):c.1619+16G>A rs148454228 0.00005
NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile) rs377461013 0.00005
NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala) rs149195094 0.00005
NM_000069.3(CACNA1S):c.1936G>A (p.Val646Ile) rs139860737 0.00005
NM_000069.3(CACNA1S):c.1944C>T (p.Gly648=) rs145733062 0.00005
NM_000069.3(CACNA1S):c.2350C>G (p.Pro784Ala) rs755964792 0.00005
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448 0.00005
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser) rs139935847 0.00005
NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn) rs369941827 0.00005
NM_000069.3(CACNA1S):c.398+3G>A rs764710968 0.00005
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu) rs371849585 0.00005
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) rs765581827 0.00005
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln) rs139945826 0.00005
NM_000069.3(CACNA1S):c.754C>T (p.Arg252Cys) rs151005797 0.00005
NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser) rs779029870 0.00005
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874 0.00004
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr) rs773440873 0.00004
NM_000069.3(CACNA1S):c.1948+11G>A rs199852936 0.00004
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133 0.00004
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn) rs752513328 0.00004
NM_000069.3(CACNA1S):c.2258C>T (p.Pro753Leu) rs190705834 0.00004
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys) rs373328930 0.00004
NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val) rs372668776 0.00004
NM_000069.3(CACNA1S):c.2457A>G (p.Glu819=) rs770817376 0.00004
NM_000069.3(CACNA1S):c.2482A>G (p.Arg828Gly) rs1174225838 0.00004
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met) rs202131129 0.00004
NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro) rs573597311 0.00004
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=) rs188071541 0.00004
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile) rs76460090 0.00004
NM_000069.3(CACNA1S):c.2962C>T (p.Arg988Cys) rs143722841 0.00004
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met) rs777328046 0.00004
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) rs775009783 0.00004
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His) rs201463541 0.00004
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys) rs368421264 0.00004
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys) rs138768414 0.00004
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930 0.00004
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro) rs576536458 0.00004
NM_000069.3(CACNA1S):c.541+9C>T rs375541532 0.00004
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358 0.00004
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile) rs767571919 0.00004
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp) rs186538122 0.00004
NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln) rs758594181 0.00004
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421 0.00004
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) rs148317787 0.00004
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=) rs1241905770 0.00003
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199 0.00003
NM_000069.3(CACNA1S):c.140T>A (p.Ile47Asn) rs372497364 0.00003
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser) rs554729466 0.00003
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys) rs751671175 0.00003
NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr) rs763794604 0.00003
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=) rs200091030 0.00003
NM_000069.3(CACNA1S):c.1855A>G (p.Met619Val) rs776996468 0.00003
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00003
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) rs143816534 0.00003
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His) rs760674518 0.00003
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met) rs373701906 0.00003
NM_000069.3(CACNA1S):c.284T>C (p.Ile95Thr) rs550479246 0.00003
NM_000069.3(CACNA1S):c.2928G>A (p.Lys976=) rs759359831 0.00003
NM_000069.3(CACNA1S):c.2956C>T (p.Arg986Cys) rs770099347 0.00003
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu) rs149658326 0.00003
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His) rs774884290 0.00003
NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr) rs562504992 0.00003
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222 0.00003
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met) rs753195502 0.00003
NM_000069.3(CACNA1S):c.4250T>A (p.Ile1417Asn) rs372383822 0.00003
NM_000069.3(CACNA1S):c.430G>A (p.Val144Ile) rs1295305811 0.00003
NM_000069.3(CACNA1S):c.4404T>A (p.Phe1468Leu) rs373506089 0.00003
NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met) rs780785403 0.00003
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu) rs970352258 0.00003
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val) rs369332959 0.00003
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala) rs141521945 0.00003
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe) rs747238231 0.00003
NM_000069.3(CACNA1S):c.5049-6T>C rs372192645 0.00003
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu) rs374763528 0.00003
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00003
NM_000069.3(CACNA1S):c.785G>A (p.Arg262Gln) rs776311349 0.00003
NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp) rs577022740 0.00003
NM_000069.3(CACNA1S):c.1060C>T (p.Arg354Trp) rs751247956 0.00002
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser) rs756022224 0.00002
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His) rs553739117 0.00002
NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp) rs758354862 0.00002
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu) rs748021245 0.00002
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766 0.00002
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys) rs80338778 0.00002
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) rs777962341 0.00002
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn) rs373525085 0.00002
NM_000069.3(CACNA1S):c.2065G>A (p.Gly689Ser) rs753313121 0.00002
NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val) rs566562378 0.00002
NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val) rs764821044 0.00002
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser) rs369931782 0.00002
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His) rs545411173 0.00002
NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg) rs146903750 0.00002
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=) rs759934490 0.00002
NM_000069.3(CACNA1S):c.2853+18C>T rs768391679 0.00002
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) rs377715551 0.00002
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550 0.00002
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe) rs774511818 0.00002
NM_000069.3(CACNA1S):c.3680G>A (p.Ser1227Asn) rs745672876 0.00002
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met) rs1224786667 0.00002
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala) rs373248127 0.00002
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile) rs138265497 0.00002
NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr) rs1313984683 0.00002
NM_000069.3(CACNA1S):c.5001T>C (p.Asn1667=) rs368926575 0.00002
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00002
NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=) rs374660431 0.00002
NM_000069.3(CACNA1S):c.5387G>A (p.Gly1796Asp) rs746407476 0.00002
NM_000069.3(CACNA1S):c.702G>T (p.Val234=) rs752724350 0.00002
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met) rs767790285 0.00002
NM_000069.3(CACNA1S):c.757C>T (p.Arg253Trp) rs555596737 0.00002
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln) rs768015104 0.00002
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser) rs375704313 0.00002
NM_000069.3(CACNA1S):c.1090C>T (p.Arg364Trp) rs529038948 0.00001
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1246C>T (p.Gln416Ter) rs1303215579 0.00001
NM_000069.3(CACNA1S):c.1294A>G (p.Lys432Glu) rs757788424 0.00001
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492 0.00001
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala) rs977298165 0.00001
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met) rs140246559 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1827+6C>T rs202244301 0.00001
NM_000069.3(CACNA1S):c.1983G>A (p.Val661=) rs763510435 0.00001
NM_000069.3(CACNA1S):c.2064-5C>T rs1233259784 0.00001
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn) rs756920981 0.00001
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys) rs1313818230 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln) rs868409473 0.00001
NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys) rs777247285 0.00001
NM_000069.3(CACNA1S):c.2276G>A (p.Arg759His) rs771314646 0.00001
NM_000069.3(CACNA1S):c.2311G>A (p.Val771Met) rs778705388 0.00001
NM_000069.3(CACNA1S):c.2361-3C>T rs774194599 0.00001
NM_000069.3(CACNA1S):c.239A>G (p.Asn80Ser) rs752667224 0.00001
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp) rs561979536 0.00001
NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg) rs1356510559 0.00001
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) rs367983954 0.00001
NM_000069.3(CACNA1S):c.2746-8G>C rs1572039133 0.00001
NM_000069.3(CACNA1S):c.2884A>G (p.Lys962Glu) rs200300308 0.00001
NM_000069.3(CACNA1S):c.288C>T (p.Val96=) rs548832647 0.00001
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865 0.00001
NM_000069.3(CACNA1S):c.293C>T (p.Ser98Leu) rs1310029541 0.00001
NM_000069.3(CACNA1S):c.2964C>T (p.Arg988=) rs778128095 0.00001
NM_000069.3(CACNA1S):c.2974C>G (p.His992Asp) rs527520015 0.00001
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=) rs371818752 0.00001
NM_000069.3(CACNA1S):c.3043G>A (p.Gly1015Arg) rs202242262 0.00001
NM_000069.3(CACNA1S):c.3053+19C>G rs372276351 0.00001
NM_000069.3(CACNA1S):c.3054G>A (p.Gln1018=) rs141956714 0.00001
NM_000069.3(CACNA1S):c.3080A>G (p.Asn1027Ser) rs757112281 0.00001
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys) rs1473668614 0.00001
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val) rs757165791 0.00001
NM_000069.3(CACNA1S):c.3256-9G>A rs1294455750 0.00001
NM_000069.3(CACNA1S):c.32T>G (p.Leu11Arg) rs1420388292 0.00001
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196 0.00001
NM_000069.3(CACNA1S):c.3428C>T (p.Ser1143Leu) rs756712640 0.00001
NM_000069.3(CACNA1S):c.3440A>G (p.Asn1147Ser) rs762768883 0.00001
NM_000069.3(CACNA1S):c.3525+1G>A rs1572033599 0.00001
NM_000069.3(CACNA1S):c.3526-3C>T rs753852308 0.00001
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112 0.00001
NM_000069.3(CACNA1S):c.3610-12T>G rs754526467 0.00001
NM_000069.3(CACNA1S):c.3658G>A (p.Gly1220Arg) rs776908038 0.00001
NM_000069.3(CACNA1S):c.3678G>C (p.Glu1226Asp) rs769524894 0.00001
NM_000069.3(CACNA1S):c.3690C>T (p.Ile1230=) rs1246570435 0.00001
NM_000069.3(CACNA1S):c.3725G>A (p.Arg1242Lys) rs750637537 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile) rs760441649 0.00001
NM_000069.3(CACNA1S):c.3953+4C>T rs763936268 0.00001
NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) rs757045433 0.00001
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln) rs756438139 0.00001
NM_000069.3(CACNA1S):c.4242-10C>G rs574154912 0.00001
NM_000069.3(CACNA1S):c.4339C>A (p.Arg1447=) rs758909185 0.00001
NM_000069.3(CACNA1S):c.4345G>A (p.Val1449Met) rs542998031 0.00001
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile) rs775885648 0.00001
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His) rs764330337 0.00001
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser) rs772750589 0.00001
NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln) rs891244994 0.00001
NM_000069.3(CACNA1S):c.4760C>A (p.Ala1587Asp) rs749495704 0.00001
NM_000069.3(CACNA1S):c.4798-2A>G rs1428157373 0.00001
NM_000069.3(CACNA1S):c.47C>T (p.Pro16Leu) rs768611153 0.00001
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr) rs199989324 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000069.3(CACNA1S):c.5065G>A (p.Glu1689Lys) rs769271960 0.00001
NM_000069.3(CACNA1S):c.5119C>G (p.Pro1707Ala) rs1426011893 0.00001
NM_000069.3(CACNA1S):c.5135-3C>T rs1311822511 0.00001
NM_000069.3(CACNA1S):c.5199A>C (p.Arg1733Ser) rs1490186766 0.00001
NM_000069.3(CACNA1S):c.5215G>A (p.Ala1739Thr) rs542268566 0.00001
NM_000069.3(CACNA1S):c.5254G>A (p.Glu1752Lys) rs747004063 0.00001
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=) rs750087191 0.00001
NM_000069.3(CACNA1S):c.5437G>A (p.Ala1813Thr) rs777333498 0.00001
NM_000069.3(CACNA1S):c.5572C>T (p.Leu1858Phe) rs1356229958 0.00001
NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn) rs191263754 0.00001
NM_000069.3(CACNA1S):c.564C>T (p.Ser188=) rs769008033 0.00001
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg) rs771569004 0.00001
NM_000069.3(CACNA1S):c.686T>C (p.Ile229Thr) rs778551098 0.00001
NM_000069.3(CACNA1S):c.695-14C>G rs1262968798 0.00001
NM_000069.3(CACNA1S):c.695-1G>A rs1213421499 0.00001
NM_000069.3(CACNA1S):c.695-5T>A rs1487979476 0.00001
NM_000069.3(CACNA1S):c.709G>A (p.Val237Met) rs766892095 0.00001
NM_000069.3(CACNA1S):c.724C>T (p.Pro242Ser) rs376595247 0.00001
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn) rs757755172 0.00001
NM_000069.3(CACNA1S):c.905A>G (p.Asn302Ser) rs765889961 0.00001
NM_000069.3(CACNA1S):c.1151-13C>A rs200273802
NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met) rs750807406
NM_000069.3(CACNA1S):c.12C>T (p.Ser4=) rs1448450110
NM_000069.3(CACNA1S):c.136A>G (p.Ser46Gly) rs773923999
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) rs2102144416
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met) rs549107212
NM_000069.3(CACNA1S):c.1731C>T (p.Gly577=)
NM_000069.3(CACNA1S):c.1749G>A (p.Gly583=) rs2102142398
NM_000069.3(CACNA1S):c.1777C>A (p.Arg593=) rs138541733
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln) rs113812219
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu) rs762032797
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) rs1572048220
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys) rs144590408
NM_000069.3(CACNA1S):c.1949-8_1986del rs1280451927
NM_000069.3(CACNA1S):c.2047C>A (p.Arg683Ser) rs35708442
NM_000069.3(CACNA1S):c.2063+1G>A rs1407484817
NM_000069.3(CACNA1S):c.2158-2A>G rs2102135936
NM_000069.3(CACNA1S):c.2166del (p.Ile722fs) rs2464547155
NM_000069.3(CACNA1S):c.216G>C (p.Leu72=) rs754538534
NM_000069.3(CACNA1S):c.2361-15_2361-12del rs1572042717
NM_000069.3(CACNA1S):c.2385C>A (p.Ile795=) rs200730765
NM_000069.3(CACNA1S):c.2386G>A (p.Val796Ile)
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.2511C>G (p.Ile837Met) rs764647345
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu) rs553593355
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val) rs553593355
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly) rs1572039465
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr) rs1287079817
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser) rs2102582533
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2762T>C (p.Met921Thr) rs765793568
NM_000069.3(CACNA1S):c.2812C>T (p.Leu938=) rs751604761
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) rs1572038993
NM_000069.3(CACNA1S):c.2932G>A (p.Gly978Arg) rs760596943
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg) rs146497999
NM_000069.3(CACNA1S):c.3054-3del rs1661047672
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val) rs751604155
NM_000069.3(CACNA1S):c.3255+10C>T rs1572035084
NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His) rs1800559
NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His) rs34515088
NM_000069.3(CACNA1S):c.3415-1G>A rs780724976
NM_000069.3(CACNA1S):c.3425A>G (p.Gln1142Arg) rs139373152
NM_000069.3(CACNA1S):c.3542C>G (p.Pro1181Arg) rs144935943
NM_000069.3(CACNA1S):c.3667-7C>G rs774905373
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His) rs774416016
NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys) rs28930069
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser) rs774300377
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.3885G>A (p.Val1295=) rs1660694623
NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) rs1553248947
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4309A>C (p.Lys1437Gln) rs752196801
NM_000069.3(CACNA1S):c.4416C>T (p.Arg1472=) rs1162767709
NM_000069.3(CACNA1S):c.4524G>C (p.Gln1508His)
NM_000069.3(CACNA1S):c.4543+2T>C rs1572023336
NM_000069.3(CACNA1S):c.4565A>G (p.Lys1522Arg) rs763242241
NM_000069.3(CACNA1S):c.460A>G (p.Ser154Gly) rs761768992
NM_000069.3(CACNA1S):c.4610T>C (p.Met1537Thr) rs771685251
NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His) rs774256022
NM_000069.3(CACNA1S):c.4798-5C>G rs375500585
NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs) rs761214441
NM_000069.3(CACNA1S):c.4924G>A (p.Val1642Ile) rs148724065
NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs) rs772130841
NM_000069.3(CACNA1S):c.4955G>A (p.Arg1652His) rs567364021
NM_000069.3(CACNA1S):c.5049-12C>G rs1660213551
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln) rs201310235
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro) rs201310235
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala) rs1189622818
NM_000069.3(CACNA1S):c.5207C>T (p.Ala1736Val) rs765797870
NM_000069.3(CACNA1S):c.5223C>A (p.Cys1741Ter) rs1451363764
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser) rs200434921
NM_000069.3(CACNA1S):c.5312G>A (p.Ser1771Asn) rs761605711
NM_000069.3(CACNA1S):c.5423T>C (p.Met1808Thr) rs1170882286
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln) rs368214163
NM_000069.3(CACNA1S):c.646G>A (p.Glu216Lys)
NM_000069.3(CACNA1S):c.648G>A (p.Glu216=) rs200633947
NM_000069.3(CACNA1S):c.732del (p.Cys245fs) rs1558079311
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614

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