ClinVar Miner

List of variants studied for Dilated Cardiomyopathy, Dominant by Invitae

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ClinVar version:
Total variants: 463
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HGVS dbSNP gnomAD frequency
NM_001006630.2(CHRM2):c.*295T>A rs8191992 0.59512
NM_001330.5(CTF1):c.26-1030C>G rs11862962 0.23264
NM_001330.5(CTF1):c.120C>T (p.Tyr40=) rs8059269 0.02315
NM_201550.4(LRRC10):c.360C>T (p.Leu120=) rs145823585 0.00793
NM_001006630.2(CHRM2):c.1197T>C (p.Thr399=) rs34586275 0.00676
NM_201550.4(LRRC10):c.584T>C (p.Ile195Thr) rs151080979 0.00397
NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile) rs76394680 0.00359
NM_001330.5(CTF1):c.591C>G (p.Pro197=) rs397516652 0.00208
NM_201550.4(LRRC10):c.521T>C (p.Leu174Pro) rs146361892 0.00196
NM_001006630.2(CHRM2):c.773A>G (p.Asn258Ser) rs142006633 0.00128
NM_001330.5(CTF1):c.443G>T (p.Arg148Leu) rs769217611 0.00084
NM_001006630.2(CHRM2):c.1114C>G (p.Pro372Ala) rs138806839 0.00078
NM_001006630.2(CHRM2):c.1050A>G (p.Ser350=) rs60372903 0.00070
NM_201550.4(LRRC10):c.697G>T (p.Gly233Cys) rs144404056 0.00067
NM_001006630.2(CHRM2):c.991A>T (p.Thr331Ser) rs146328962 0.00064
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr) rs2234933 0.00062
NM_201550.4(LRRC10):c.571T>A (p.Phe191Ile) rs150202472 0.00058
NM_201550.4(LRRC10):c.768G>A (p.Ala256=) rs148566929 0.00056
NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser) rs138193709 0.00053
NM_001330.5(CTF1):c.280C>T (p.Leu94=) rs397516648 0.00053
NM_201550.4(LRRC10):c.29C>T (p.Ala10Val) rs201435560 0.00053
NM_201550.4(LRRC10):c.688G>A (p.Val230Met) rs141399395 0.00051
NM_201550.4(LRRC10):c.453C>T (p.Ala151=) rs12229290 0.00050
NM_001006630.2(CHRM2):c.150C>T (p.Val50=) rs144511065 0.00039
NM_001006630.2(CHRM2):c.456C>T (p.Phe152=) rs148163637 0.00038
NM_001006630.2(CHRM2):c.757G>A (p.Asp253Asn) rs140681489 0.00034
NM_001006630.2(CHRM2):c.549T>C (p.Asn183=) rs141951417 0.00031
NM_001006630.2(CHRM2):c.674T>A (p.Val225Asp) rs143952141 0.00031
NM_201550.4(LRRC10):c.149C>T (p.Ser50Phe) rs141358220 0.00029
NM_001330.5(CTF1):c.275C>A (p.Ala92Glu) rs727502949 0.00023
NM_201550.4(LRRC10):c.87G>A (p.Pro29=) rs766209612 0.00020
NM_001006630.2(CHRM2):c.1059T>C (p.Asn353=) rs143722099 0.00019
NM_001006630.2(CHRM2):c.1031T>G (p.Val344Gly) rs139037603 0.00015
NM_201550.4(LRRC10):c.707G>A (p.Arg236His) rs570820489 0.00015
NM_201550.4(LRRC10):c.747T>C (p.Pro249=) rs144939992 0.00015
NM_001330.5(CTF1):c.145-13C>T rs397516646 0.00013
NM_201550.4(LRRC10):c.199C>T (p.Leu67=) rs781199181 0.00011
NM_001330.5(CTF1):c.144+7G>T rs374359365 0.00010
NM_001330.5(CTF1):c.174G>A (p.Leu58=) rs1269652445 0.00009
NM_201550.4(LRRC10):c.206C>T (p.Pro69Leu) rs140389574 0.00009
NM_201550.4(LRRC10):c.57C>T (p.Asn19=) rs754386706 0.00009
NM_201550.4(LRRC10):c.732G>A (p.Thr244=) rs142092409 0.00009
NM_001006630.2(CHRM2):c.703C>A (p.Leu235Met) rs138886480 0.00008
NM_201550.4(LRRC10):c.760C>T (p.Arg254Cys) rs149896098 0.00008
NM_001330.5(CTF1):c.464C>A (p.Pro155His) rs779426091 0.00007
NM_001330.5(CTF1):c.592G>C (p.Gly198Arg) rs1356326953 0.00007
NM_201550.4(LRRC10):c.382A>G (p.Ile128Val) rs376622534 0.00007
NM_201550.4(LRRC10):c.470G>A (p.Arg157His) rs140782746 0.00007
NM_201550.4(LRRC10):c.570C>T (p.Pro190=) rs547157948 0.00007
NM_201550.4(LRRC10):c.704G>A (p.Arg235His) rs538939242 0.00007
NM_001006630.2(CHRM2):c.169G>A (p.Val57Ile) rs143842239 0.00006
NM_001006630.2(CHRM2):c.761G>T (p.Gly254Val) rs368473785 0.00006
NM_001006630.2(CHRM2):c.973A>T (p.Ile325Phe) rs773330734 0.00006
NM_001330.5(CTF1):c.515T>C (p.Val172Ala) rs892483374 0.00006
NM_001330.5(CTF1):c.55C>A (p.Leu19Ile) rs544073469 0.00006
NM_201550.4(LRRC10):c.170T>C (p.Leu57Pro) rs200318358 0.00006
NM_201550.4(LRRC10):c.266C>T (p.Ala89Val) rs201075055 0.00006
NM_201550.4(LRRC10):c.276G>C (p.Gln92His) rs375327073 0.00006
NM_201550.4(LRRC10):c.434T>C (p.Leu145Pro) rs746066388 0.00006
NM_001006630.2(CHRM2):c.384T>C (p.Pro128=) rs375980850 0.00005
NM_001330.5(CTF1):c.527G>A (p.Arg176His) rs886051925 0.00005
NM_201550.4(LRRC10):c.260T>A (p.Phe87Tyr) rs150521577 0.00005
NM_201550.4(LRRC10):c.575T>G (p.Leu192Arg) rs140945419 0.00005
NM_001006630.2(CHRM2):c.1074G>C (p.Gln358His) rs747925877 0.00004
NM_001006630.2(CHRM2):c.1088G>A (p.Arg363His) rs147228075 0.00004
NM_001006630.2(CHRM2):c.213C>T (p.Ile71=) rs770495131 0.00004
NM_001006630.2(CHRM2):c.480C>T (p.Leu160=) rs975508576 0.00004
NM_001006630.2(CHRM2):c.570G>A (p.Thr190=) rs777593546 0.00004
NM_001006630.2(CHRM2):c.632G>A (p.Arg211Gln) rs774760812 0.00004
NM_001006630.2(CHRM2):c.756C>T (p.Asp252=) rs531986911 0.00004
NM_001006630.2(CHRM2):c.951T>C (p.Asp317=) rs77845403 0.00004
NM_001330.5(CTF1):c.414C>A (p.Ala138=) rs727505121 0.00004
NM_001330.5(CTF1):c.454G>C (p.Ala152Pro) rs1467275471 0.00004
NM_201550.4(LRRC10):c.525G>A (p.Ser175=) rs571446377 0.00004
NM_201550.4(LRRC10):c.678C>T (p.Asn226=) rs367700049 0.00004
NM_201550.4(LRRC10):c.832T>C (p.Ter278Arg) rs200140508 0.00004
NM_001006630.2(CHRM2):c.1194C>T (p.Ile398=) rs150776322 0.00003
NM_001006630.2(CHRM2):c.1338C>T (p.Thr446=) rs763752437 0.00003
NM_001330.5(CTF1):c.145-10G>A rs397516645 0.00003
NM_001330.5(CTF1):c.219C>G (p.Ala73=) rs1252669969 0.00003
NM_001330.5(CTF1):c.466G>A (p.Ala156Thr) rs936775298 0.00003
NM_001330.5(CTF1):c.469G>A (p.Ala157Thr) rs876657768 0.00003
NM_001330.5(CTF1):c.497G>C (p.Gly166Ala) rs1053768184 0.00003
NM_201550.4(LRRC10):c.141C>T (p.His47=) rs373230856 0.00003
NM_201550.4(LRRC10):c.207G>A (p.Pro69=) rs200277583 0.00003
NM_201550.4(LRRC10):c.348G>A (p.Glu116=) rs778805482 0.00003
NM_201550.4(LRRC10):c.411G>A (p.Pro137=) rs762992535 0.00003
NM_201550.4(LRRC10):c.454G>A (p.Gly152Ser) rs756019434 0.00003
NM_201550.4(LRRC10):c.491G>A (p.Arg164Gln) rs775896006 0.00003
NM_201550.4(LRRC10):c.617C>T (p.Pro206Leu) rs763225285 0.00003
NM_201550.4(LRRC10):c.69G>T (p.Arg23Ser) rs767711263 0.00003
NM_201550.4(LRRC10):c.809_812del (p.Pro270fs) rs766326895 0.00003
NM_201550.4(LRRC10):c.98T>C (p.Met33Thr) rs536125045 0.00003
NM_001006630.2(CHRM2):c.1029C>T (p.Thr343=) rs1481148988 0.00002
NM_001006630.2(CHRM2):c.1389C>T (p.Gly463=) rs573795503 0.00002
NM_001006630.2(CHRM2):c.680A>G (p.Asn227Ser) rs760821552 0.00002
NM_001006630.2(CHRM2):c.885T>C (p.Asn295=) rs1443103188 0.00002
NM_001330.5(CTF1):c.228G>A (p.Pro76=) rs886051923 0.00002
NM_001330.5(CTF1):c.474C>T (p.Thr158=) rs1217608616 0.00002
NM_001330.5(CTF1):c.83G>A (p.Arg28His) rs201703547 0.00002
NM_201550.4(LRRC10):c.159G>A (p.Glu53=) rs761912259 0.00002
NM_201550.4(LRRC10):c.190C>T (p.Leu64Phe) rs144313495 0.00002
NM_201550.4(LRRC10):c.204T>C (p.Pro68=) rs767076195 0.00002
NM_201550.4(LRRC10):c.24C>T (p.Leu8=) rs772538122 0.00002
NM_201550.4(LRRC10):c.25G>A (p.Val9Met) rs572910562 0.00002
NM_201550.4(LRRC10):c.494G>A (p.Arg165His) rs372742540 0.00002
NM_201550.4(LRRC10):c.533G>A (p.Arg178Gln) rs138855649 0.00002
NM_201550.4(LRRC10):c.742G>A (p.Asp248Asn) rs373847240 0.00002
NM_201550.4(LRRC10):c.746C>G (p.Pro249Arg) rs781382323 0.00002
NM_201550.4(LRRC10):c.818C>G (p.Pro273Arg) rs529860544 0.00002
NM_001006630.2(CHRM2):c.1030G>A (p.Val344Met) rs201165506 0.00001
NM_001006630.2(CHRM2):c.1094T>C (p.Ile365Thr) rs1805158684 0.00001
NM_001006630.2(CHRM2):c.1113G>C (p.Gln371His) rs1237014805 0.00001
NM_001006630.2(CHRM2):c.1143G>T (p.Arg381=) rs1227972027 0.00001
NM_001006630.2(CHRM2):c.1180T>C (p.Leu394=) rs781736829 0.00001
NM_001006630.2(CHRM2):c.1251C>A (p.Ile417=) rs770736119 0.00001
NM_001006630.2(CHRM2):c.1329C>T (p.Cys443=) rs187298017 0.00001
NM_001006630.2(CHRM2):c.1363C>A (p.Leu455Ile) rs1470994649 0.00001
NM_001006630.2(CHRM2):c.154C>T (p.Arg52Cys) rs1011147170 0.00001
NM_001006630.2(CHRM2):c.186A>G (p.Leu62=) rs760443842 0.00001
NM_001006630.2(CHRM2):c.227C>G (p.Ser76Cys) rs1440850408 0.00001
NM_001006630.2(CHRM2):c.426G>A (p.Met142Ile) rs142493466 0.00001
NM_001006630.2(CHRM2):c.525G>A (p.Glu175=) rs576281726 0.00001
NM_001006630.2(CHRM2):c.537G>A (p.Gln179=) rs150934226 0.00001
NM_001006630.2(CHRM2):c.569C>T (p.Thr190Met) rs1394629702 0.00001
NM_001006630.2(CHRM2):c.597G>A (p.Val199=) rs769572164 0.00001
NM_001006630.2(CHRM2):c.618T>C (p.Tyr206=) rs141382037 0.00001
NM_001006630.2(CHRM2):c.686A>G (p.Asp229Gly) rs762688022 0.00001
NM_001006630.2(CHRM2):c.735T>C (p.Asn245=) rs1263310656 0.00001
NM_001006630.2(CHRM2):c.911A>T (p.Asp304Val) rs778284565 0.00001
NM_001006630.2(CHRM2):c.914A>G (p.Glu305Gly) rs915877356 0.00001
NM_001330.5(CTF1):c.172C>T (p.Leu58=) rs1194218989 0.00001
NM_001330.5(CTF1):c.190C>T (p.Pro64Ser) rs1373635087 0.00001
NM_001330.5(CTF1):c.201G>T (p.Pro67=) rs1405204256 0.00001
NM_001330.5(CTF1):c.207C>A (p.Ala69=) rs1567331191 0.00001
NM_001330.5(CTF1):c.253G>C (p.Glu85Gln) rs1489208133 0.00001
NM_001330.5(CTF1):c.314G>A (p.Cys105Tyr) rs1324790071 0.00001
NM_001330.5(CTF1):c.319C>A (p.Arg107Ser) rs727502950 0.00001
NM_001330.5(CTF1):c.328G>A (p.Glu110Lys) rs1391759634 0.00001
NM_001330.5(CTF1):c.34C>T (p.Gln12Ter) rs369917781 0.00001
NM_001330.5(CTF1):c.350G>A (p.Arg117His) rs1332064376 0.00001
NM_001330.5(CTF1):c.389G>A (p.Arg130Gln) rs2055409690 0.00001
NM_001330.5(CTF1):c.505C>T (p.Pro169Ser) rs746337311 0.00001
NM_001330.5(CTF1):c.516G>A (p.Val172=) rs1009554008 0.00001
NM_001330.5(CTF1):c.531T>C (p.Val177=) rs772604974 0.00001
NM_001330.5(CTF1):c.582G>A (p.Gln194=) rs1179040083 0.00001
NM_001330.5(CTF1):c.592G>A (p.Gly198Arg) rs1356326953 0.00001
NM_001330.5(CTF1):c.596G>A (p.Gly199Asp) rs776753331 0.00001
NM_201550.4(LRRC10):c.142G>A (p.Val48Met) rs565500326 0.00001
NM_201550.4(LRRC10):c.143T>G (p.Val48Gly) rs1267413776 0.00001
NM_201550.4(LRRC10):c.195T>C (p.Asn65=) rs552658459 0.00001
NM_201550.4(LRRC10):c.241_243del (p.Ala81del) rs751444931 0.00001
NM_201550.4(LRRC10):c.242C>A (p.Ala81Asp) rs764162460 0.00001
NM_201550.4(LRRC10):c.333C>T (p.Cys111=) rs780066909 0.00001
NM_201550.4(LRRC10):c.351G>A (p.Leu117=) rs753730377 0.00001
NM_201550.4(LRRC10):c.462C>T (p.Asn154=) rs780713335 0.00001
NM_201550.4(LRRC10):c.497T>C (p.Leu166Pro) rs774636598 0.00001
NM_201550.4(LRRC10):c.535C>T (p.Leu179=) rs746518980 0.00001
NM_201550.4(LRRC10):c.607C>T (p.Arg203Cys) rs143606238 0.00001
NM_201550.4(LRRC10):c.608G>A (p.Arg203His) rs766586554 0.00001
NM_201550.4(LRRC10):c.627G>A (p.Ala209=) rs770103230 0.00001
NM_201550.4(LRRC10):c.679G>A (p.Ala227Thr) rs778412060 0.00001
NM_201550.4(LRRC10):c.706C>T (p.Arg236Cys) rs867657812 0.00001
NM_201550.4(LRRC10):c.741C>T (p.Pro247=) rs778555681 0.00001
NM_201550.4(LRRC10):c.761G>A (p.Arg254His) rs780649377 0.00001
NM_201550.4(LRRC10):c.765T>C (p.Tyr255=) rs548431025 0.00001
NM_201550.4(LRRC10):c.76C>T (p.Arg26Cys) rs773143752 0.00001
NM_201550.4(LRRC10):c.774C>T (p.Val258=) rs761916115 0.00001
NM_201550.4(LRRC10):c.77G>A (p.Arg26His) rs751287791 0.00001
NC_000007.13:g.(?_136699613)_(136701013_?)del
NC_000007.13:g.(?_136699613)_(136701013_?)dup
NM_001006630.2(CHRM2):c.101G>T (p.Ser34Ile) rs1805074915
NM_001006630.2(CHRM2):c.1020T>A (p.Thr340=) rs764893658
NM_001006630.2(CHRM2):c.1020T>C (p.Thr340=)
NM_001006630.2(CHRM2):c.1021A>G (p.Asn341Asp)
NM_001006630.2(CHRM2):c.1031T>C (p.Val344Ala) rs139037603
NM_001006630.2(CHRM2):c.1032G>T (p.Val344=)
NM_001006630.2(CHRM2):c.1036G>T (p.Val346Leu) rs1455067791
NM_001006630.2(CHRM2):c.1054C>A (p.Gln352Lys)
NM_001006630.2(CHRM2):c.106G>T (p.Val36Leu)
NM_001006630.2(CHRM2):c.1074G>A (p.Gln358=) rs747925877
NM_001006630.2(CHRM2):c.1074G>T (p.Gln358His) rs747925877
NM_001006630.2(CHRM2):c.1087C>T (p.Arg363Cys)
NM_001006630.2(CHRM2):c.1107T>G (p.Thr369=)
NM_001006630.2(CHRM2):c.1135C>T (p.Pro379Ser) rs36044268
NM_001006630.2(CHRM2):c.1140C>T (p.Ser380=)
NM_001006630.2(CHRM2):c.1141C>T (p.Arg381Trp)
NM_001006630.2(CHRM2):c.1142G>A (p.Arg381Gln) rs1432230108
NM_001006630.2(CHRM2):c.1142G>T (p.Arg381Leu)
NM_001006630.2(CHRM2):c.1148A>G (p.Lys383Arg)
NM_001006630.2(CHRM2):c.116T>A (p.Ile39Asn)
NM_001006630.2(CHRM2):c.1203C>T (p.Ala401=) rs2131136011
NM_001006630.2(CHRM2):c.120G>C (p.Gly40=)
NM_001006630.2(CHRM2):c.1243C>T (p.Pro415Ser) rs1584929720
NM_001006630.2(CHRM2):c.1245T>G (p.Pro415=)
NM_001006630.2(CHRM2):c.1248C>G (p.Cys416Trp) rs2131136215
NM_001006630.2(CHRM2):c.1259C>G (p.Thr420Ser) rs758947846
NM_001006630.2(CHRM2):c.1263G>A (p.Val421=)
NM_001006630.2(CHRM2):c.1286G>C (p.Cys429Ser) rs1805176312
NM_001006630.2(CHRM2):c.1303A>G (p.Ile435Val)
NM_001006630.2(CHRM2):c.1323A>T (p.Ala441=)
NM_001006630.2(CHRM2):c.1326T>C (p.Leu442=)
NM_001006630.2(CHRM2):c.1368G>T (p.Met456Ile) rs139832815
NM_001006630.2(CHRM2):c.1372C>T (p.His458Tyr)
NM_001006630.2(CHRM2):c.1389C>A (p.Gly463=) rs573795503
NM_001006630.2(CHRM2):c.1394C>T (p.Thr465Ile) rs202195493
NM_001006630.2(CHRM2):c.171C>T (p.Val57=)
NM_001006630.2(CHRM2):c.17del (p.Asn6fs)
NM_001006630.2(CHRM2):c.180C>T (p.Tyr60=) rs2131131055
NM_001006630.2(CHRM2):c.217G>A (p.Gly73Ser)
NM_001006630.2(CHRM2):c.219T>C (p.Gly73=)
NM_001006630.2(CHRM2):c.234C>T (p.Asn78=) rs760006520
NM_001006630.2(CHRM2):c.247T>G (p.Tyr83Asp) rs1192304125
NM_001006630.2(CHRM2):c.256A>G (p.Ile86Val)
NM_001006630.2(CHRM2):c.257T>C (p.Ile86Thr)
NM_001006630.2(CHRM2):c.2T>A (p.Met1Lys)
NM_001006630.2(CHRM2):c.348C>T (p.Ile116=)
NM_001006630.2(CHRM2):c.34C>T (p.Leu12=)
NM_001006630.2(CHRM2):c.351C>T (p.Ile117=)
NM_001006630.2(CHRM2):c.357T>C (p.Phe119=)
NM_001006630.2(CHRM2):c.385C>G (p.Leu129Val)
NM_001006630.2(CHRM2):c.403C>T (p.Arg135Trp)
NM_001006630.2(CHRM2):c.404G>A (p.Arg135Gln)
NM_001006630.2(CHRM2):c.415A>G (p.Met139Val)
NM_001006630.2(CHRM2):c.416T>A (p.Met139Lys) rs757844531
NM_001006630.2(CHRM2):c.44C>A (p.Thr15Lys) rs1805069679
NM_001006630.2(CHRM2):c.454T>G (p.Phe152Val) rs2131132038
NM_001006630.2(CHRM2):c.457A>G (p.Ile153Val)
NM_001006630.2(CHRM2):c.486G>T (p.Trp162Cys) rs2131132222
NM_001006630.2(CHRM2):c.501G>C (p.Gly167=)
NM_001006630.2(CHRM2):c.502G>A (p.Val168Met)
NM_001006630.2(CHRM2):c.532A>C (p.Ile178Leu)
NM_001006630.2(CHRM2):c.576T>C (p.Ile192=) rs1293483630
NM_001006630.2(CHRM2):c.577G>A (p.Ala193Thr) rs1805107459
NM_001006630.2(CHRM2):c.579A>C (p.Ala193=)
NM_001006630.2(CHRM2):c.594A>G (p.Pro198=) rs558678081
NM_001006630.2(CHRM2):c.622C>T (p.His208Tyr) rs1196291053
NM_001006630.2(CHRM2):c.629C>T (p.Ser210Phe) rs1563128628
NM_001006630.2(CHRM2):c.638G>A (p.Ser213Asn)
NM_001006630.2(CHRM2):c.639C>T (p.Ser213=)
NM_001006630.2(CHRM2):c.645C>T (p.Ser215=) rs2131132940
NM_001006630.2(CHRM2):c.652A>G (p.Lys218Glu) rs2131132962
NM_001006630.2(CHRM2):c.652AAG[1] (p.Lys219del)
NM_001006630.2(CHRM2):c.673G>A (p.Val225Ile)
NM_001006630.2(CHRM2):c.692T>C (p.Val231Ala)
NM_001006630.2(CHRM2):c.709C>G (p.Gln237Glu)
NM_001006630.2(CHRM2):c.713G>C (p.Gly238Ala)
NM_001006630.2(CHRM2):c.716G>A (p.Arg239Lys)
NM_001006630.2(CHRM2):c.720A>G (p.Ile240Met) rs1805119053
NM_001006630.2(CHRM2):c.727C>A (p.Pro243Thr)
NM_001006630.2(CHRM2):c.794C>T (p.Ala265Val) rs1554437349
NM_001006630.2(CHRM2):c.829G>A (p.Gly277Arg)
NM_001006630.2(CHRM2):c.830G>A (p.Gly277Glu)
NM_001006630.2(CHRM2):c.874G>A (p.Val292Ile) rs1805134418
NM_001006630.2(CHRM2):c.874_882del (p.Val292_Ser294del) rs1454380573
NM_001006630.2(CHRM2):c.897T>C (p.Asp299=)
NM_001006630.2(CHRM2):c.8A>G (p.Asn3Ser)
NM_001006630.2(CHRM2):c.916A>C (p.Asn306His)
NM_001006630.2(CHRM2):c.927C>T (p.Ser309=) rs770969121
NM_001006630.2(CHRM2):c.935T>A (p.Leu312Gln) rs200017653
NM_001006630.2(CHRM2):c.943T>C (p.Ser315Pro)
NM_001006630.2(CHRM2):c.952G>A (p.Glu318Lys)
NM_001006630.2(CHRM2):c.954G>A (p.Glu318=) rs1442558581
NM_001006630.2(CHRM2):c.991A>C (p.Thr331Pro) rs146328962
NM_001330.5(CTF1):c.101C>T (p.Ala34Val)
NM_001330.5(CTF1):c.103C>A (p.His35Asn)
NM_001330.5(CTF1):c.111C>T (p.Leu37=)
NM_001330.5(CTF1):c.121G>T (p.Ala41Ser) rs149342494
NM_001330.5(CTF1):c.130C>G (p.Leu44Val)
NM_001330.5(CTF1):c.145-7T>A
NM_001330.5(CTF1):c.158G>A (p.Gly53Glu)
NM_001330.5(CTF1):c.162C>A (p.Asp54Glu)
NM_001330.5(CTF1):c.183C>A (p.Phe61Leu)
NM_001330.5(CTF1):c.184T>A (p.Ser62Thr) rs2143244270
NM_001330.5(CTF1):c.207C>T (p.Ala69=) rs1567331191
NM_001330.5(CTF1):c.211C>A (p.Leu71Met)
NM_001330.5(CTF1):c.224C>T (p.Ala75Val) rs1385458236
NM_001330.5(CTF1):c.235G>A (p.Ala79Thr)
NM_001330.5(CTF1):c.238G>A (p.Gly80Arg) rs1421511267
NM_001330.5(CTF1):c.246A>C (p.Pro82=) rs2143244820
NM_001330.5(CTF1):c.250C>T (p.His84Tyr)
NM_001330.5(CTF1):c.252C>G (p.His84Gln)
NM_001330.5(CTF1):c.253G>A (p.Glu85Lys) rs1489208133
NM_001330.5(CTF1):c.253G>T (p.Glu85Ter)
NM_001330.5(CTF1):c.26-13C>A
NM_001330.5(CTF1):c.26-13C>G
NM_001330.5(CTF1):c.26-13C>T rs200729865
NM_001330.5(CTF1):c.26-15C>T rs2143233159
NM_001330.5(CTF1):c.26-17C>G
NM_001330.5(CTF1):c.26-17C>T
NM_001330.5(CTF1):c.26-1G>A rs1303838927
NM_001330.5(CTF1):c.263G>T (p.Arg88Leu)
NM_001330.5(CTF1):c.26A>C (p.Glu9Ala)
NM_001330.5(CTF1):c.283_291dup (p.Leu97_Pro98insAlaAlaLeu)
NM_001330.5(CTF1):c.283_297dup (p.Ala95_Pro99dup) rs1419475331
NM_001330.5(CTF1):c.285C>T (p.Ala95=)
NM_001330.5(CTF1):c.287C>A (p.Ala96Glu) rs974196158
NM_001330.5(CTF1):c.291G>T (p.Leu97=)
NM_001330.5(CTF1):c.292C>G (p.Pro98Ala)
NM_001330.5(CTF1):c.293C>T (p.Pro98Leu) rs1567331279
NM_001330.5(CTF1):c.295C>G (p.Pro99Ala)
NM_001330.5(CTF1):c.304G>C (p.Asp102His)
NM_001330.5(CTF1):c.306C>T (p.Asp102=)
NM_001330.5(CTF1):c.311T>C (p.Val104Ala) rs1367415789
NM_001330.5(CTF1):c.316C>T (p.Arg106Cys)
NM_001330.5(CTF1):c.317del (p.Arg106fs)
NM_001330.5(CTF1):c.32C>G (p.Pro11Arg) rs1043291296
NM_001330.5(CTF1):c.332T>C (p.Leu111Pro)
NM_001330.5(CTF1):c.337C>A (p.Pro113Thr)
NM_001330.5(CTF1):c.342C>G (p.Arg114=)
NM_001330.5(CTF1):c.345_346delinsAA (p.Pro116Thr) rs1555485191
NM_001330.5(CTF1):c.345_346dup (p.Pro116fs) rs1167643962
NM_001330.5(CTF1):c.346_375del (p.Pro116_Ala125del) rs2055408775
NM_001330.5(CTF1):c.347C>G (p.Pro116Arg) rs886051924
NM_001330.5(CTF1):c.347C>T (p.Pro116Leu)
NM_001330.5(CTF1):c.356T>G (p.Leu119Arg) rs2055409233
NM_001330.5(CTF1):c.356_404del (p.Leu119fs)
NM_001330.5(CTF1):c.358C>T (p.Arg120Cys) rs2055409271
NM_001330.5(CTF1):c.363C>A (p.Arg121=)
NM_001330.5(CTF1):c.364C>G (p.Leu122Val)
NM_001330.5(CTF1):c.364C>T (p.Leu122=) rs1384722765
NM_001330.5(CTF1):c.372C>G (p.Asp124Glu) rs2143246245
NM_001330.5(CTF1):c.37A>G (p.Thr13Ala) rs2143233389
NM_001330.5(CTF1):c.386C>T (p.Ala129Val)
NM_001330.5(CTF1):c.388C>G (p.Arg130Gly)
NM_001330.5(CTF1):c.391G>A (p.Ala131Thr)
NM_001330.5(CTF1):c.399C>A (p.Gly133=) rs1596639693
NM_001330.5(CTF1):c.402C>T (p.Ala134=)
NM_001330.5(CTF1):c.413C>A (p.Ala138Asp)
NM_001330.5(CTF1):c.420G>T (p.Leu140=)
NM_001330.5(CTF1):c.426G>A (p.Ala142=) rs1320065665
NM_001330.5(CTF1):c.426G>T (p.Ala142=) rs1320065665
NM_001330.5(CTF1):c.429G>A (p.Leu143=)
NM_001330.5(CTF1):c.443G>A (p.Arg148His)
NM_001330.5(CTF1):c.446_457dup (p.Gly149_Ala152dup) rs1231514239
NM_001330.5(CTF1):c.447G>T (p.Gly149=)
NM_001330.5(CTF1):c.452_463dup (p.Pro154_Pro155insArgAlaGluPro)
NM_001330.5(CTF1):c.456C>T (p.Ala152=)
NM_001330.5(CTF1):c.457G>A (p.Glu153Lys) rs1360227777
NM_001330.5(CTF1):c.460C>T (p.Pro154Ser)
NM_001330.5(CTF1):c.463_465dup (p.Pro155dup) rs1218236539
NM_001330.5(CTF1):c.464C>G (p.Pro155Arg)
NM_001330.5(CTF1):c.465C>A (p.Pro155=)
NM_001330.5(CTF1):c.465dup (p.Ala156fs) rs1218236539
NM_001330.5(CTF1):c.466_486dup (p.Ala156_Ala162dup) rs1555485213
NM_001330.5(CTF1):c.473C>A (p.Thr158Asn) rs2143247242
NM_001330.5(CTF1):c.474C>A (p.Thr158=) rs1217608616
NM_001330.5(CTF1):c.475G>T (p.Ala159Ser) rs1377343246
NM_001330.5(CTF1):c.495C>T (p.Thr165=) rs2143247498
NM_001330.5(CTF1):c.498G>A (p.Gly166=)
NM_001330.5(CTF1):c.502_504del (p.Phe168del)
NM_001330.5(CTF1):c.503dup (p.Ala170fs) rs1382940759
NM_001330.5(CTF1):c.508G>A (p.Ala170Thr)
NM_001330.5(CTF1):c.510C>T (p.Ala170=) rs2143247725
NM_001330.5(CTF1):c.526C>T (p.Arg176Cys)
NM_001330.5(CTF1):c.536G>A (p.Gly179Asp) rs1375739909
NM_001330.5(CTF1):c.537C>T (p.Gly179=)
NM_001330.5(CTF1):c.544C>A (p.Arg182Ser)
NM_001330.5(CTF1):c.549G>T (p.Glu183Asp)
NM_001330.5(CTF1):c.551G>A (p.Trp184Ter)
NM_001330.5(CTF1):c.555G>A (p.Leu185=) rs2143248137
NM_001330.5(CTF1):c.560G>A (p.Arg187His)
NM_001330.5(CTF1):c.565G>T (p.Glu189Ter) rs1202428159
NM_001330.5(CTF1):c.566A>C (p.Glu189Ala)
NM_001330.5(CTF1):c.571G>C (p.Asp191His) rs2055413651
NM_001330.5(CTF1):c.574C>G (p.Leu192Val) rs2143248393
NM_001330.5(CTF1):c.578G>A (p.Gly193Asp)
NM_001330.5(CTF1):c.584TGC[3] (p.Leu196dup) rs2055413929
NM_001330.5(CTF1):c.588G>C (p.Leu196=)
NM_001330.5(CTF1):c.588G>T (p.Leu196=) rs761082716
NM_001330.5(CTF1):c.589C>A (p.Pro197Thr) rs1034195402
NM_001330.5(CTF1):c.590C>T (p.Pro197Leu)
NM_001330.5(CTF1):c.591C>A (p.Pro197=)
NM_001330.5(CTF1):c.591C>T (p.Pro197=) rs397516652
NM_001330.5(CTF1):c.594G>T (p.Gly198=) rs1443088980
NM_001330.5(CTF1):c.600G>A (p.Ser200=) rs1026759136
NM_001330.5(CTF1):c.64C>G (p.His22Asp)
NM_001330.5(CTF1):c.75C>A (p.Ala25=)
NM_001330.5(CTF1):c.86_88del (p.Gln29_Thr30delinsPro) rs2055382935
NM_001330.5(CTF1):c.91C>T (p.His31Tyr)
NM_001458.5(FLNC):c.3039C>A (p.Cys1013Ter) rs1554399014
NM_201550.4(LRRC10):c.124C>G (p.Arg42Gly)
NM_201550.4(LRRC10):c.124C>T (p.Arg42Cys)
NM_201550.4(LRRC10):c.125G>C (p.Arg42Pro) rs746667362
NM_201550.4(LRRC10):c.128G>A (p.Arg43His)
NM_201550.4(LRRC10):c.129C>T (p.Arg43=)
NM_201550.4(LRRC10):c.135C>A (p.Pro45=) rs778318582
NM_201550.4(LRRC10):c.135C>T (p.Pro45=)
NM_201550.4(LRRC10):c.137T>C (p.Leu46Pro)
NM_201550.4(LRRC10):c.141C>A (p.His47Gln) rs373230856
NM_201550.4(LRRC10):c.150C>T (p.Ser50=)
NM_201550.4(LRRC10):c.175C>T (p.Leu59=)
NM_201550.4(LRRC10):c.181G>A (p.Asp61Asn)
NM_201550.4(LRRC10):c.181G>C (p.Asp61His) rs775173428
NM_201550.4(LRRC10):c.183C>A (p.Asp61Glu)
NM_201550.4(LRRC10):c.186C>T (p.Asn62=)
NM_201550.4(LRRC10):c.194A>G (p.Asn65Ser)
NM_201550.4(LRRC10):c.222A>G (p.Leu74=)
NM_201550.4(LRRC10):c.239T>C (p.Leu80Pro) rs1196312346
NM_201550.4(LRRC10):c.240G>A (p.Leu80=) rs753853282
NM_201550.4(LRRC10):c.240G>T (p.Leu80=)
NM_201550.4(LRRC10):c.249T>C (p.Asp83=)
NM_201550.4(LRRC10):c.257A>G (p.Asn86Ser)
NM_201550.4(LRRC10):c.270G>A (p.Leu90=)
NM_201550.4(LRRC10):c.281_294del (p.Val94fs)
NM_201550.4(LRRC10):c.296A>G (p.Gln99Arg)
NM_201550.4(LRRC10):c.313C>A (p.Leu105Met)
NM_201550.4(LRRC10):c.334G>A (p.Asp112Asn)
NM_201550.4(LRRC10):c.367C>T (p.Leu123Phe)
NM_201550.4(LRRC10):c.385G>A (p.Glu129Lys)
NM_201550.4(LRRC10):c.396C>T (p.Cys132=)
NM_201550.4(LRRC10):c.401C>T (p.Thr134Ile)
NM_201550.4(LRRC10):c.408G>A (p.Leu136=) rs2135869207
NM_201550.4(LRRC10):c.410C>T (p.Pro137Leu)
NM_201550.4(LRRC10):c.456C>T (p.Gly152=)
NM_201550.4(LRRC10):c.469C>A (p.Arg157Ser) rs201257055
NM_201550.4(LRRC10):c.469C>T (p.Arg157Cys) rs201257055
NM_201550.4(LRRC10):c.46C>T (p.Arg16Cys)
NM_201550.4(LRRC10):c.47G>A (p.Arg16His) rs746225380
NM_201550.4(LRRC10):c.480A>C (p.Pro160=)
NM_201550.4(LRRC10):c.490C>T (p.Arg164Trp)
NM_201550.4(LRRC10):c.505C>T (p.Leu169=) rs2135869126
NM_201550.4(LRRC10):c.50G>C (p.Cys17Ser)
NM_201550.4(LRRC10):c.510G>T (p.Arg170Ser)
NM_201550.4(LRRC10):c.516C>G (p.Ile172Met) rs2135869114
NM_201550.4(LRRC10):c.520C>G (p.Leu174Val)
NM_201550.4(LRRC10):c.524C>T (p.Ser175Leu)
NM_201550.4(LRRC10):c.537_540del (p.Asp181fs) rs944526586
NM_201550.4(LRRC10):c.553G>A (p.Val185Met)
NM_201550.4(LRRC10):c.555G>C (p.Val185=)
NM_201550.4(LRRC10):c.564C>A (p.His188Gln) rs1593107542
NM_201550.4(LRRC10):c.565A>G (p.Met189Val)
NM_201550.4(LRRC10):c.576G>C (p.Leu192=) rs2135869032
NM_201550.4(LRRC10):c.579G>A (p.Glu193=)
NM_201550.4(LRRC10):c.596G>C (p.Trp199Ser) rs1593107499
NM_201550.4(LRRC10):c.612C>G (p.Tyr204Ter) rs2135868999
NM_201550.4(LRRC10):c.615C>A (p.Phe205Leu)
NM_201550.4(LRRC10):c.626C>A (p.Ala209Glu) rs773536861
NM_201550.4(LRRC10):c.62T>G (p.Val21Gly)
NM_201550.4(LRRC10):c.631C>G (p.Leu211Val)
NM_201550.4(LRRC10):c.631C>T (p.Leu211=) rs1412985237
NM_201550.4(LRRC10):c.635C>T (p.Ser212Leu) rs2135868960
NM_201550.4(LRRC10):c.636A>G (p.Ser212=)
NM_201550.4(LRRC10):c.647T>A (p.Leu216Gln)
NM_201550.4(LRRC10):c.647T>G (p.Leu216Arg) rs1555198944
NM_201550.4(LRRC10):c.652A>G (p.Ile218Val) rs1882347534
NM_201550.4(LRRC10):c.670T>C (p.Cys224Arg)
NM_201550.4(LRRC10):c.700G>A (p.Val234Met)
NM_201550.4(LRRC10):c.704G>C (p.Arg235Pro) rs538939242
NM_201550.4(LRRC10):c.708T>G (p.Arg236=)
NM_201550.4(LRRC10):c.710T>C (p.Val237Ala)
NM_201550.4(LRRC10):c.718T>C (p.Trp240Arg)
NM_201550.4(LRRC10):c.731C>T (p.Thr244Met)
NM_201550.4(LRRC10):c.733C>T (p.Pro245Ser)
NM_201550.4(LRRC10):c.735del (p.Glu246fs)
NM_201550.4(LRRC10):c.75C>T (p.Leu25=)
NM_201550.4(LRRC10):c.762C>T (p.Arg254=) rs1555198926
NM_201550.4(LRRC10):c.798G>C (p.Gln266His)
NM_201550.4(LRRC10):c.803C>T (p.Pro268Leu)
NM_201550.4(LRRC10):c.805G>A (p.Val269Ile)
NM_201550.4(LRRC10):c.80A>G (p.Glu27Gly) rs2135869598
NM_201550.4(LRRC10):c.813A>C (p.Leu271=) rs550818805
NM_201550.4(LRRC10):c.827A>T (p.Asn276Ile)

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