ClinVar Miner

List of variants reported as pathogenic for neuromuscular junction disease

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 773
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006901.4(MYO9A):c.6848G>A (p.Arg2283His) rs142345927 0.00245
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys) rs201322234 0.00030
NM_198576.4(AGRN):c.2563G>A (p.Val855Met) rs200684031 0.00027
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly) rs150726107 0.00017
NM_000751.3(CHRND):c.821-2A>C rs762875734 0.00014
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543 0.00012
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_020549.5(CHAT):c.629T>C (p.Leu210Pro) rs121912820 0.00010
NM_001171613.2(PREPL):c.1753+1G>T rs148092524 0.00009
NM_198576.4(AGRN):c.1343G>A (p.Arg448Gln) rs772102866 0.00009
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_198576.4(AGRN):c.4735G>A (p.Gly1579Ser) rs556296275 0.00006
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter) rs200761047 0.00005
NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser) rs121908923 0.00005
NM_198576.4(AGRN):c.1385-42G>C rs200373411 0.00005
NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser) rs145162376 0.00005
NM_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter) rs201033437 0.00004
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys) rs145955590 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005592.4(MUSK):c.79+2T>G rs200783529 0.00004
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr) rs372760913 0.00004
NM_144988.4(ALG14):c.310C>T (p.Arg104Ter) rs367570129 0.00004
NM_000080.4(CHRNE):c.-95G>A rs990457690 0.00003
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs) rs1268475945 0.00003
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_001171613.2(PREPL):c.888+1G>A rs758019788 0.00003
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile) rs376039938 0.00003
NM_005677.4(COLQ):c.1005_1008del (p.Asn335fs) rs1311078034 0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys) rs374155761 0.00003
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met) rs769234940 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 0.00003
NM_198576.4(AGRN):c.4999G>A (p.Val1667Met) rs770750909 0.00003
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709 0.00002
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro) rs28929768 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000080.4(CHRNE):c.803-2A>G rs1320610655 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000747.3(CHRNB1):c.248G>A (p.Trp83Ter) rs766823872 0.00002
NM_001171613.2(PREPL):c.427C>T (p.Arg143Ter) rs1361739547 0.00002
NM_001171613.2(PREPL):c.616C>T (p.Arg206Ter) rs145356495 0.00002
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met) rs751097758 0.00002
NM_001244710.2(GFPT1):c.686-2A>G rs1011196447 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) rs104894294 0.00002
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864 0.00002
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp) rs139574075 0.00002
NM_005677.4(COLQ):c.555+1G>A rs769276577 0.00002
NM_198576.4(AGRN):c.3973_3979dup (p.Gln1327fs) rs1645159594 0.00002
NC_000017.11:g.4903159G>A rs748144899 0.00001
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met) rs137852799 0.00001
NM_000079.4(CHRNA1):c.913G>A (p.Val305Ile) rs137852804 0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp) rs374391312 0.00001
NM_000080.4(CHRNE):c.1033-1G>C rs755303686 0.00001
NM_000080.4(CHRNE):c.1033-2A>T rs786204773 0.00001
NM_000080.4(CHRNE):c.1052C>T (p.Pro351Leu) rs1168592296 0.00001
NM_000080.4(CHRNE):c.1164del (p.Lys388fs) rs1222065184 0.00001
NM_000080.4(CHRNE):c.1220-1G>A rs373710822 0.00001
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu) rs121909512 0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu) rs121909514 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter) rs748103983 0.00001
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys) rs1188070167 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His) rs863225046 0.00001
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter) rs121909505 0.00001
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys) rs121909509 0.00001
NM_001171613.2(PREPL):c.-42del rs749853265 0.00001
NM_001171613.2(PREPL):c.-49+1734C>T rs374594354 0.00001
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His) rs189717232 0.00001
NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln) rs922548333 0.00001
NM_001244710.2(GFPT1):c.686dup (p.Ala229_Arg230insTer) rs1380136176 0.00001
NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter) rs1574066341 0.00001
NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter) rs375268742 0.00001
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu) rs1057521151 0.00001
NM_001382.4(DPAGT1):c.26dup (p.Met9fs) rs768656482 0.00001
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=) rs1555207826 0.00001
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs) rs397515321 0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029 0.00001
NM_001382.4(DPAGT1):c.791T>G (p.Val264Gly) rs387907245 0.00001
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His) rs768416381 0.00001
NM_002334.4(LRP4):c.316+1G>A rs780336679 0.00001
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) rs746136135 0.00001
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro) rs104894300 0.00001
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp) rs368695664 0.00001
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys) rs560525099 0.00001
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys) rs121909255 0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met) rs761584017 0.00001
NM_005055.5(RAPSN):c.531+1G>T rs1421354085 0.00001
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) rs1595903667 0.00001
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) rs559933584 0.00001
NM_005055.5(RAPSN):c.7C>T (p.Gln3Ter) rs2076433607 0.00001
NM_005592.4(MUSK):c.2165T>C (p.Val722Ala) rs1238400476 0.00001
NM_005592.4(MUSK):c.2170C>T (p.Arg724Ter) rs1255531873 0.00001
NM_005592.4(MUSK):c.2446C>T (p.Arg816Ter) rs1487680236 0.00001
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser) rs551423795 0.00001
NM_005592.4(MUSK):c.496C>T (p.Arg166Ter) rs763656507 0.00001
NM_005677.4(COLQ):c.1195+1G>A rs755782087 0.00001
NM_005677.4(COLQ):c.1196G>A (p.Arg399His) rs375272767 0.00001
NM_005677.4(COLQ):c.1229G>A (p.Arg410Gln) rs1025361623 0.00001
NM_005677.4(COLQ):c.1281C>T (p.Cys427=) rs185829251 0.00001
NM_005677.4(COLQ):c.219+1G>C rs149020371 0.00001
NM_005677.4(COLQ):c.220-1G>A rs199470447 0.00001
NM_005677.4(COLQ):c.640G>T (p.Glu214Ter) rs104893733 0.00001
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter) rs770045897 0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter) rs121908924 0.00001
NM_005677.4(COLQ):c.954+1G>A rs757060689 0.00001
NM_005984.5(SLC25A1):c.740G>A (p.Arg247Gln) rs781908532 0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys) rs121912822 0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys) rs121912816 0.00001
NM_020549.5(CHAT):c.1493C>T (p.Ser498Leu) rs121912821 0.00001
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter) rs371470622 0.00001
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu) rs121912817 0.00001
NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter) rs369251527 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter) rs1458796820 0.00001
NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys) rs201439531 0.00001
NM_020549.5(CHAT):c.631C>G (p.Pro211Ala) rs121912815 0.00001
NM_021815.5(SLC5A7):c.1082G>A (p.Arg361Gln) rs147656110 0.00001
NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe) rs756015202 0.00001
NM_173660.5(DOK7):c.331+1G>T rs1349476281 0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044 0.00001
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) rs768892432 0.00001
NM_173660.5(DOK7):c.596del (p.Ile199fs) rs797045528 0.00001
NM_198576.4(AGRN):c.4217_4218del (p.Gln1406fs) rs770470615 0.00001
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser) rs764160563 0.00001
1p36.33 deletion (0.48 Mb)
GRCh37/hg19 2p21(chr2:44494834-44571747)
GRCh38/hg38 17p13.1(chr17:7454200-7454618)x0
GRCh38/hg38 3p25.1(chr3:15488109-15489735)x0
NC_000001.10:g.(?_954503)_(992499_?)del
NC_000001.10:g.(?_955543)_(2238214_?)del
NC_000001.10:g.(?_976533)_(990361_?)del
NC_000001.11:g.(?_1020153)_(1313808_?)del
NC_000001.11:g.976618_977825del
NC_000002.11:g.(?_44507855)_(44549039_?)del
NC_000002.11:g.(?_44527090)_(44556271_?)del
NC_000002.11:g.(?_44547318)_(44556271_?)del
NC_000002.11:g.(?_44547318)_(44569711_?)del
NC_000002.11:g.(?_44548495)_(44571745_?)del
NC_000002.11:g.(?_44548495)_(44586854_?)del
NC_000002.11:g.(?_44549870)_(44556251_?)del
NC_000002.11:g.(?_44553841)_(44566512_?)del
NC_000002.11:g.(?_44565470)_(44566522_?)del
NC_000002.11:g.(?_44565470)_(44586854_?)del
NC_000002.11:g.(?_69553299)_(69614213_?)del
NC_000002.11:g.(?_69573016)_(69575486_?)del
NC_000002.11:g.(?_69583608)_(69583709_?)del
NC_000002.11:g.44559541_44571008del
NC_000002.12:g.(?_44280696)_(44346410_?)del
NC_000002.12:g.(?_44280716)_(44346390_?)del
NC_000002.12:g.(?_44320179)_(44346410_?)del
NC_000002.12:g.(?_44321336)_(44346410_?)del
NC_000002.12:g.(?_44321336)_(44359735_?)del
NC_000002.12:g.(?_44321346)_(44359725_?)del
NC_000002.12:g.(?_44359487)_(44359725_?)del
NC_000003.11:g.(?_15497386)_(15498106_?)del
NC_000004.11:g.(?_2822345)_(3495228_?)del
NC_000004.11:g.(?_3465103)_(3465298_?)del
NC_000004.11:g.(?_3478049)_(3478289_?)del
NC_000004.11:g.(?_3478200)_(3482970_?)del
NC_000004.11:g.(?_3494466)_(3495228_?)del
NC_000004.12:g.(?_3463366)_(3493511_?)del
NC_000004.12:g.(?_3473386)_(3489816_?)del
NC_000004.12:g.(?_3485519)_(3493521_?)del
NC_000004.12:g.(?_3485529)_(3485668_?)del
NC_000004.12:g.(?_3485529)_(3493511_?)del
NC_000009.11:g.(?_113431185)_(113550138_?)del
NC_000009.11:g.(?_113444934)_(113449568_?)del
NC_000009.11:g.(?_113449377)_(113449568_?)del
NC_000009.11:g.(?_113449377)_(113457830_?)del
NC_000009.11:g.(?_113509901)_(113538955_?)del
NC_000009.11:g.(?_113538048)_(113538955_?)del
NC_000009.11:g.(?_113547787)_(113548018_?)del
NC_000009.12:g.(?_110668885)_(110801008_?)del
NC_000009.12:g.(?_110734231)_(110734395_?)del
NC_000010.10:g.(?_50821083)_(50874150_?)del
NC_000010.10:g.(?_50854637)_(50864625_?)del
NC_000010.10:g.(?_50856533)_(50857702_?)del
NC_000010.10:g.(?_50872803)_(50873092_?)del
NC_000010.11:g.(?_49614170)_(49665066_?)del
NC_000010.11:g.69888305del rs864309663
NC_000011.10:g.(?_47437955)_(47438951_?)del
NC_000011.10:g.(?_47437965)_(47438941_?)del
NC_000011.10:g.(?_47447802)_(47449175_?)del
NC_000011.9:g.(?_118967698)_(119170501_?)del
NC_000011.9:g.(?_46880534)_(47470516_?)del
NC_000011.9:g.(?_47455479)_(47460424_?)del
NC_000011.9:g.(?_47459516)_(47459608_?)del
NC_000011.9:g.(?_47459516)_(47464376_?)del
NC_000011.9:g.(?_47460273)_(47460492_?)del
NC_000011.9:g.(?_47462700)_(47463483_?)del
NC_000011.9:g.(?_47467519)_(47469609_?)del
NC_000011.9:g.(?_47469354)_(47470726_?)del
NC_000011.9:g.(?_47469557)_(47478800_?)del
NC_000017.10:g.(7352108_7357615)_(7357840_7358602)del
NC_000017.10:g.(?_4802021)_(4802196_?)del
NC_000017.10:g.(?_4804068)_(4806078_?)del
NC_000017.10:g.(?_4804937)_(4805847_?)del
NC_000017.10:g.(?_4805539)_(4806690_?)del
NC_000017.11:g.(?_4898726)_(4948404_?)del
NC_000017.11:g.(?_4901641)_(4903159_?)del
NC_000017.11:g.(?_7454277)_(7454540_?)del
NC_000017.11:g.(?_7454287)_(7454530_?)del
NC_000017.11:g.4902680_4903969delinsTCTGGATGCG
NM_000048.4(ASL):c.1327del (p.Thr443fs) rs2115767079
NM_000079.4(CHRNA1):c.1314C>G (p.Cys438Trp) rs137852808
NM_000079.4(CHRNA1):c.235-353G>A rs2105350984
NM_000079.4(CHRNA1):c.441del (p.Cys148fs)
NM_000079.4(CHRNA1):c.454G>C (p.Val152Leu) rs137852807
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000079.4(CHRNA1):c.711C>G (p.Asn237Lys) rs137852798
NM_000079.4(CHRNA1):c.737C>A (p.Ser246Tyr) rs483353046
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe) rs483353046
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val) rs137852805
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe) rs137852803
NM_000079.4(CHRNA1):c.821C>T (p.Thr274Ile) rs137852800
NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu) rs137852806
NM_000079.4(CHRNA1):c.866G>T (p.Ser289Ile) rs137852802
NM_000080.4(CHRNE):c.1002_1008dup (p.Ala337fs)
NM_000080.4(CHRNE):c.1012del (p.Met338fs) rs2151095155
NM_000080.4(CHRNE):c.1030del (p.His344fs) rs879253723
NM_000080.4(CHRNE):c.1032+1G>C
NM_000080.4(CHRNE):c.105T>A (p.Tyr35Ter) rs2151098928
NM_000080.4(CHRNE):c.1062_1081dup (p.Glu361fs) rs2151094729
NM_000080.4(CHRNE):c.1064del (p.Gly355fs) rs1567636622
NM_000080.4(CHRNE):c.1070dup (p.Pro358fs)
NM_000080.4(CHRNE):c.1072_1081del (p.Pro358fs)
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs) rs932032926
NM_000080.4(CHRNE):c.1076_1115del (p.Pro359fs) rs2151094632
NM_000080.4(CHRNE):c.1077_1098dup (p.Ser367fs) rs1555546315
NM_000080.4(CHRNE):c.1080_1098dup (p.Ser367fs) rs1969858094
NM_000080.4(CHRNE):c.1081_1099del (p.Glu361fs) rs1567636493
NM_000080.4(CHRNE):c.1090del (p.Arg364fs)
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs) rs1156634884
NM_000080.4(CHRNE):c.1093del (p.Ala365fs) rs886043239
NM_000080.4(CHRNE):c.1096_1105dup (p.Pro369fs) rs1255916068
NM_000080.4(CHRNE):c.1108del (p.Arg370fs) rs1969856640
NM_000080.4(CHRNE):c.1113_1174del (p.Ser373fs)
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)
NM_000080.4(CHRNE):c.1121C>A (p.Ser374Ter) rs768869197
NM_000080.4(CHRNE):c.114_118dup (p.Arg40fs) rs2151098905
NM_000080.4(CHRNE):c.1158dup (p.Lys387fs) rs2151094540
NM_000080.4(CHRNE):c.115dup (p.Ser39fs) rs977512223
NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter) rs886037628
NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer) rs1423995073
NM_000080.4(CHRNE):c.1192C>T (p.Gln398Ter)
NM_000080.4(CHRNE):c.11_14dup (p.Leu6fs)
NM_000080.4(CHRNE):c.1203del (p.Gln402fs) rs1429181185
NM_000080.4(CHRNE):c.1204C>T (p.Gln402Ter)
NM_000080.4(CHRNE):c.1214G>A (p.Trp405Ter) rs2151094398
NM_000080.4(CHRNE):c.1216_1219+19del rs760623071
NM_000080.4(CHRNE):c.1219+1G>C
NM_000080.4(CHRNE):c.1219+2T>G rs2151094378
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.1220-8_1227dup rs2151094080
NM_000080.4(CHRNE):c.1231C>T (p.Gln411Ter) rs1969839736
NM_000080.4(CHRNE):c.1238dup (p.Ala415fs)
NM_000080.4(CHRNE):c.1248_1266dup (p.Cys423fs)
NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs) rs781774131
NM_000080.4(CHRNE):c.1251_1266dup (p.Cys423fs) rs748694848
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs) rs1597613479
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs) rs769945146
NM_000080.4(CHRNE):c.1255G>T (p.Glu419Ter) rs754975887
NM_000080.4(CHRNE):c.1258del (p.Val420fs)
NM_000080.4(CHRNE):c.1271_1290del (p.Val424fs) rs2151093952
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro) rs121909517
NM_000080.4(CHRNE):c.1306_1307del (p.Asp436fs) rs1194524772
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1319_1326+15del rs1208462125
NM_000080.4(CHRNE):c.1323dup (p.Glu442fs) rs1597613302
NM_000080.4(CHRNE):c.1326+1G>A rs1430654625
NM_000080.4(CHRNE):c.1326+2T>C rs1597613279
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000080.4(CHRNE):c.1332del (p.Ser445fs)
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter) rs918839874
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del) rs748289906
NM_000080.4(CHRNE):c.1371del (p.Cys458fs) rs1597612665
NM_000080.4(CHRNE):c.1379G>A (p.Trp460Ter)
NM_000080.4(CHRNE):c.1380G>A (p.Trp460Ter) rs1555546096
NM_000080.4(CHRNE):c.1381_1390del (p.Ala461fs)
NM_000080.4(CHRNE):c.1383_1393del (p.Ala462fs)
NM_000080.4(CHRNE):c.1429del (p.Ala477fs) rs1396286715
NM_000080.4(CHRNE):c.209_210del (p.Leu70fs)
NM_000080.4(CHRNE):c.223T>C (p.Trp75Arg) rs193919341
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
NM_000080.4(CHRNE):c.240G>A (p.Trp80Ter)
NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter) rs121909513
NM_000080.4(CHRNE):c.250del (p.Arg84fs) rs1555547003
NM_000080.4(CHRNE):c.264del (p.Ser88fs)
NM_000080.4(CHRNE):c.293dup (p.Arg99fs)
NM_000080.4(CHRNE):c.295C>T (p.Arg99Ter) rs1278514080
NM_000080.4(CHRNE):c.313_319del (p.Val105fs)
NM_000080.4(CHRNE):c.316_317del (p.Trp106fs) rs2151098538
NM_000080.4(CHRNE):c.318G>A (p.Trp106Ter)
NM_000080.4(CHRNE):c.327_328dup (p.Ile110fs)
NM_000080.4(CHRNE):c.344+1G>A rs879253722
NM_000080.4(CHRNE):c.355C>T (p.Gln119Ter)
NM_000080.4(CHRNE):c.361G>T (p.Gly121Ter) rs1187421976
NM_000080.4(CHRNE):c.372C>G (p.Tyr124Ter) rs894382905
NM_000080.4(CHRNE):c.393C>G (p.Tyr131Ter)
NM_000080.4(CHRNE):c.400_403dup (p.Ser135fs)
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr) rs483353045
NM_000080.4(CHRNE):c.439_440insGAGGTCA (p.Val147fs) rs2151098295
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) rs1597621396
NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs) rs1597621353
NM_000080.4(CHRNE):c.447_459del (p.Val150fs) rs1970005446
NM_000080.4(CHRNE):c.452_454del (p.Glu151del) rs2151098283
NM_000080.4(CHRNE):c.453_454dup (p.Val152fs)
NM_000080.4(CHRNE):c.46+2del
NM_000080.4(CHRNE):c.477G>A (p.Trp159Ter)
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.501-10_504dup rs768552387
NM_000080.4(CHRNE):c.501-16G>A rs879255563
NM_000080.4(CHRNE):c.505C>T (p.Gln169Ter)
NM_000080.4(CHRNE):c.520G>T (p.Glu174Ter)
NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)
NM_000080.4(CHRNE):c.551dup (p.Asn184fs)
NM_000080.4(CHRNE):c.569dup (p.Asn190fs)
NM_000080.4(CHRNE):c.583G>A (p.Asp195Asn)
NM_000080.4(CHRNE):c.589G>T (p.Glu197Ter)
NM_000080.4(CHRNE):c.590_591del (p.Glu197fs) rs2151097742
NM_000080.4(CHRNE):c.606_619del (p.Gly203fs) rs1969973509
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000080.4(CHRNE):c.617_635del (p.Ala206fs) rs1969972830
NM_000080.4(CHRNE):c.647_653dup (p.His218fs) rs2151097420
NM_000080.4(CHRNE):c.653_666dup (p.Asp223fs)
NM_000080.4(CHRNE):c.67G>T (p.Glu23Ter)
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs) rs1597619440
NM_000080.4(CHRNE):c.687del (p.Asp229fs)
NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp) rs1567638676
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe) rs28999110
NM_000080.4(CHRNE):c.750_751del (p.Val252fs)
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu) rs1555546765
NM_000080.4(CHRNE):c.790del (p.Leu264fs)
NM_000080.4(CHRNE):c.793C>T (p.Pro265Ser) rs2151097209
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.794del (p.Pro265fs) rs756675414
NM_000080.4(CHRNE):c.802+1G>A
NM_000080.4(CHRNE):c.802+2T>A
NM_000080.4(CHRNE):c.802+2T>C rs2151097188
NM_000080.4(CHRNE):c.811C>T (p.Gln271Ter)
NM_000080.4(CHRNE):c.829dup (p.Ile277fs) rs2151097082
NM_000080.4(CHRNE):c.835G>T (p.Val279Phe) rs1597618854
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter) rs773929089
NM_000080.4(CHRNE):c.848_852dup (p.Val285fs) rs1567638401
NM_000080.4(CHRNE):c.850A>C (p.Thr284Pro) rs121909510
NM_000080.4(CHRNE):c.852del (p.Val285fs)
NM_000080.4(CHRNE):c.854T>C (p.Val285Ala) rs1597618787
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe) rs121909511
NM_000080.4(CHRNE):c.866del (p.Leu289fs)
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
NM_000080.4(CHRNE):c.876del (p.Ile294fs)
NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)
NM_000080.4(CHRNE):c.892_894del (p.Ser298del) rs398122830
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.916A>G (p.Arg306Gly) rs1969955431
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met) rs2151096983
NM_000080.4(CHRNE):c.918-1G>A rs1407243713
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465
NM_000080.4(CHRNE):c.951_954del (p.Ile318fs)
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter) rs56377005
NM_000080.4(CHRNE):c.985_986del (p.Ser329fs) rs1969880683
NM_000080.4(CHRNE):c.988C>T (p.Gln330Ter)
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg) rs1598406692
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu) rs121908553
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.685del (p.Thr229fs) rs1909597270
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) rs80338951
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000747.3(CHRNB1):c.1072_1073del (p.Leu358fs)
NM_000747.3(CHRNB1):c.1102_1103del (p.Asp368fs)
NM_000747.3(CHRNB1):c.1218-9_1218-7del rs781689096
NM_000747.3(CHRNB1):c.1347_1355del (p.Glu449_Glu451del)
NM_000747.3(CHRNB1):c.605dup (p.Ile203fs) rs1447564693
NM_000747.3(CHRNB1):c.727C>T (p.Arg243Cys) rs199875082
NM_000747.3(CHRNB1):c.759dup (p.Ala254fs) rs2150839428
NM_000747.3(CHRNB1):c.821_1044del p.Gly274Aspfs
NM_000747.3(CHRNB1):c.823G>T (p.Glu275Ter) rs1908992563
NM_000747.3(CHRNB1):c.853C>A (p.Leu285Met) rs137852811
NM_000747.3(CHRNB1):c.865G>A (p.Val289Met) rs137852810
NM_000747.3(CHRNB1):c.866T>C (p.Val289Ala) rs1908994498
NM_000747.3(CHRNB1):c.883del (p.Ala295fs) rs780391043
NM_000751.2(CHRND):c.[1319A>G];[73G>T]
NM_000751.3(CHRND):c.188T>C (p.Leu63Pro) rs121909508
NM_000751.3(CHRND):c.238G>A (p.Glu80Lys) rs121909504
NM_000751.3(CHRND):c.812C>A (p.Pro271Gln) rs121909503
NM_000751.3(CHRND):c.820_820+1del rs879255564
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe) rs121909502
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe) rs1574633904
NM_000751.3(CHRND):c.901_1048-282del
NM_001171613.2(PREPL):c.-31_-28del rs1553360075
NM_001171613.2(PREPL):c.-49+1778C>A
NM_001171613.2(PREPL):c.-49+1802T>A rs2104270031
NM_001171613.2(PREPL):c.-49+1826dup
NM_001171613.2(PREPL):c.-49+1843_-49+1844del
NM_001171613.2(PREPL):c.1015_1018del (p.Phe339fs) rs748639083
NM_001171613.2(PREPL):c.1250_1251del (p.Tyr417fs)
NM_001171613.2(PREPL):c.1261C>T (p.Arg421Ter) rs779879227
NM_001171613.2(PREPL):c.1337T>G (p.Leu446Ter) rs1553352792
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter) rs1673549822
NM_001171613.2(PREPL):c.1378C>T (p.Gln460Ter)
NM_001171613.2(PREPL):c.1521_1522dup (p.Leu508fs) rs1355856142
NM_001171613.2(PREPL):c.167del (p.Leu56fs) rs775517492
NM_001171613.2(PREPL):c.1729G>T (p.Glu577Ter) rs983509465
NM_001171613.2(PREPL):c.196C>T (p.Gln66Ter) rs2103986758
NM_001171613.2(PREPL):c.448_451del (p.Lys150fs) rs779488471
NM_001171613.2(PREPL):c.540del (p.Ile180_Met181insTer) rs1057523690
NM_001171613.2(PREPL):c.634del (p.Tyr212fs) rs2103925424
NM_001171613.2(PREPL):c.71_72insCT (p.Glu25fs)
NM_001171613.2(PREPL):c.75del (p.Val26fs) rs1675812434
NM_001171613.2(PREPL):c.94_97del (p.Val32fs) rs1436090495
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.1096G>T (p.Asp366Tyr) rs1574058076
NM_001244710.2(GFPT1):c.1290dup (p.Arg431fs) rs2104617143
NM_001244710.2(GFPT1):c.1291C>T (p.Arg431Ter)
NM_001244710.2(GFPT1):c.1588C>T (p.Arg530Trp) rs1024585946
NM_001244710.2(GFPT1):c.1687C>T (p.Arg563Ter)
NM_001244710.2(GFPT1):c.1851T>G (p.Tyr617Ter)
NM_001244710.2(GFPT1):c.197_201del (p.Val66fs) rs1558773839
NM_001244710.2(GFPT1):c.224dup (p.Gln76fs) rs1671535986
NM_001244710.2(GFPT1):c.41G>T (p.Arg14Leu) rs922548333
NM_001244710.2(GFPT1):c.43A>G (p.Thr15Ala) rs387906638
NM_001244710.2(GFPT1):c.452C>A (p.Thr151Lys) rs1558761046
NM_001244710.2(GFPT1):c.621del (p.Leu207_Leu208insTer) rs1574066599
NM_001244710.2(GFPT1):c.686-1G>A rs2104647624
NM_001244710.2(GFPT1):c.728_729del (p.Gln243fs)
NM_001244710.2(GFPT1):c.738_739del (p.Gly247fs) rs1553390600
NM_001244710.2(GFPT1):c.741dup (p.Lys248fs)
NM_001244710.2(GFPT1):c.769_772del (p.Ser257fs) rs2104639109
NM_001244710.2(GFPT1):c.89_90del (p.Leu30fs) rs1671813157
NM_001244710.2(GFPT1):c.931C>T (p.Arg311Ter) rs2104635880
NM_001244710.2(GFPT1):c.982C>T (p.Gln328Ter) rs1558749457
NM_001368882.1(COL13A1):c.1138C>T (p.Gln380Ter) rs2064735979
NM_001368882.1(COL13A1):c.1206del (p.Leu403fs) rs864309662
NM_001368882.1(COL13A1):c.1559G>A (p.Gly520Asp) rs2065959942
NM_001368882.1(COL13A1):c.1619del (p.Asn540fs) rs2135829327
NM_001368882.1(COL13A1):c.1884_1886delinsCCCT (p.Ser629fs) rs2136077497
NM_001368882.1(COL13A1):c.513del (p.Gly172fs) rs1564932829
NM_001368882.1(COL13A1):c.648del (p.Gly217fs) rs763281993
NM_001368882.1(COL13A1):c.675C>G (p.Tyr225Ter) rs2134842358
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile) rs387907243
NM_001382.4(DPAGT1):c.358C>A (p.Leu120Met) rs387907244
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter) rs1315559074
NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter) rs2134919748
NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)
NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs) rs2134901573
NM_001382.4(DPAGT1):c.79del (p.Thr27fs)
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328
NM_002334.4(LRP4):c.1123_1126dup (p.Val376fs)
NM_002334.4(LRP4):c.1850del (p.Ala617fs)
NM_002334.4(LRP4):c.2260C>T (p.Arg754Ter) rs1565790767
NM_002334.4(LRP4):c.2498del (p.Thr833fs)
NM_002334.4(LRP4):c.2830C>T (p.Gln944Ter) rs1218582533
NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter) rs1565785959
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) rs786205153
NM_002334.4(LRP4):c.4400dup (p.Asn1467fs)
NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His) rs1057517666
NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala) rs1057517665
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) rs377767449
NM_005055.5(RAPSN):c.-199C>G rs886037842
NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs) rs765096923
NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter) rs763094966
NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs) rs786205885
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del) rs759488854
NM_005055.5(RAPSN):c.1166+1G>C
NM_005055.5(RAPSN):c.1166+1G>T
NM_005055.5(RAPSN):c.1166+2T>G
NM_005055.5(RAPSN):c.1168del (p.Cys390fs)
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) rs1555142142
NM_005055.5(RAPSN):c.1185del (p.Thr396fs) rs2153306243
NM_005055.5(RAPSN):c.11dup (p.Asp4fs) rs1565689206
NM_005055.5(RAPSN):c.123del (p.Arg42fs)
NM_005055.5(RAPSN):c.149_153delinsAGATGGGCCGCTACAAGGAGATGG (p.Val50fs) rs1131691986
NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter)
NM_005055.5(RAPSN):c.192+2T>G
NM_005055.5(RAPSN):c.193-15C>A rs45547231
NM_005055.5(RAPSN):c.1A>G (p.Met1Val)
NM_005055.5(RAPSN):c.210del (p.Ile70fs) rs760999895
NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)
NM_005055.5(RAPSN):c.264C>G (p.Asn88Lys)
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) rs375218091
NM_005055.5(RAPSN):c.280del (p.Glu94fs)
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter) rs749287203
NM_005055.5(RAPSN):c.297del (p.His100fs) rs2153311310
NM_005055.5(RAPSN):c.300_319del (p.His100fs) rs2153311290
NM_005055.5(RAPSN):c.318C>A (p.Cys106Ter) rs2076423585
NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter) rs2076422949
NM_005055.5(RAPSN):c.358del (p.Gln120fs)
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter) rs1479498379
NM_005055.5(RAPSN):c.3G>T (p.Met1Ile)
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter) rs2153311231
NM_005055.5(RAPSN):c.424_425insTGTCTCCTCTATATAAATGCGTAGGGGTTTTAGTTAAATGTCCTTTGAAGTATACTTGAGGAGGGTGACGGGCGGTGTGTACGCGCTTCAGGGCCCTGTTCAACTAAGCACTCTACCCTGTTCAACTAAG (p.Ala142delinsValSerProLeuTyrLysCysValGlyValLeuValLysCysProLeuLysTyrThrTer)
NM_005055.5(RAPSN):c.46dup (p.Leu16fs) rs2153311780
NM_005055.5(RAPSN):c.490C>G (p.Arg164Gly) rs104894294
NM_005055.5(RAPSN):c.531+1G>A
NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter) rs1015604630
NM_005055.5(RAPSN):c.546_547dup (p.Leu183fs) rs2153309143
NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs) rs786200904
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter) rs1595899478
NM_005055.5(RAPSN):c.652_655dup (p.Leu219fs)
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter) rs2153309050
NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter) rs2076368388
NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)
NM_005055.5(RAPSN):c.79C>T (p.Gln27Ter)
NM_005055.5(RAPSN):c.807C>A (p.Tyr269Ter) rs104894301
NM_005055.5(RAPSN):c.838G>T (p.Gly280Ter) rs1262674788
NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter) rs1555142603
NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter)
NM_005055.5(RAPSN):c.888G>A (p.Trp296Ter)
NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter)
NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter) rs201947904
NM_005592.4(MUSK):c.1031C>G (p.Pro344Arg) rs387906803
NM_005592.4(MUSK):c.1091_1092del (p.Pro364fs)
NM_005592.4(MUSK):c.1218C>A (p.Cys406Ter)
NM_005592.4(MUSK):c.1299_1300del (p.Cys434fs)
NM_005592.4(MUSK):c.1384del (p.Thr462fs)
NM_005592.4(MUSK):c.1466C>G (p.Ser489Ter)
NM_005592.4(MUSK):c.1555C>T (p.Arg519Ter)
NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)
NM_005592.4(MUSK):c.1626del (p.Glu542fs) rs2077841802
NM_005592.4(MUSK):c.166dup (p.Gln56fs)
NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter) rs752798426
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile) rs766640370
NM_005592.4(MUSK):c.1826del (p.Lys609fs)
NM_005592.4(MUSK):c.1840del (p.Glu614fs)
NM_005592.4(MUSK):c.2010del (p.Met670fs)
NM_005592.4(MUSK):c.2021_2022dup (p.Val675fs)
NM_005592.4(MUSK):c.2034_2035del (p.His680fs)
NM_005592.4(MUSK):c.2122C>T (p.Gln708Ter)
NM_005592.4(MUSK):c.2180C>T (p.Ala727Val) rs397515450
NM_005592.4(MUSK):c.2192del (p.Cys731fs)
NM_005592.4(MUSK):c.220dup (p.Arg74fs) rs879255561
NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter)
NM_005592.4(MUSK):c.2T>C (p.Met1Thr)
NM_005592.4(MUSK):c.31_34del (p.His11fs)
NM_005592.4(MUSK):c.461G>A (p.Trp154Ter)
NM_005592.4(MUSK):c.545dup (p.Glu183fs)
NM_005592.4(MUSK):c.581dup (p.Asn194fs) rs1395885868
NM_005592.4(MUSK):c.582del (p.Asn194fs) rs2131720596
NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)
NM_005592.4(MUSK):c.81_84del (p.Pro28fs)
NM_005592.4(MUSK):c.845_848dup (p.Ile283fs)
NM_005592.4(MUSK):c.868del (p.Glu290fs)
NM_005677.4(COLQ):c.1061G>A (p.Trp354Ter) rs2125086401
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
NM_005677.4(COLQ):c.109del (p.Leu37fs)
NM_005677.4(COLQ):c.109dup (p.Leu37fs)
NM_005677.4(COLQ):c.1111C>T (p.Gln371Ter) rs2125085542
NM_005677.4(COLQ):c.1129del (p.Asp377fs) rs1559511788
NM_005677.4(COLQ):c.118del (p.Leu40fs)
NM_005677.4(COLQ):c.1195+2T>C rs2125085333
NM_005677.4(COLQ):c.1195+2T>G rs2125085333
NM_005677.4(COLQ):c.1212del (p.Cys405fs) rs771866680
NM_005677.4(COLQ):c.1225dup (p.His409fs) rs1559510978
NM_005677.4(COLQ):c.1277C>T (p.Thr426Ile) rs536042715
NM_005677.4(COLQ):c.1281C>A (p.Cys427Ter) rs185829251
NM_005677.4(COLQ):c.1298+3A>G rs1384843815
NM_005677.4(COLQ):c.157dup (p.Leu53fs) rs971863968
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
NM_005677.4(COLQ):c.241_242dup (p.Asn81fs)
NM_005677.4(COLQ):c.361G>T (p.Glu121Ter) rs2125123167
NM_005677.4(COLQ):c.377del (p.Gly126fs) rs759874172
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005677.4(COLQ):c.393+1G>A rs1085307792
NM_005677.4(COLQ):c.444G>A (p.Trp148Ter) rs1369980189
NM_005677.4(COLQ):c.506C>G (p.Ser169Ter) rs104893734
NM_005677.4(COLQ):c.54_57del (p.Ile20fs) rs771879602
NM_005677.4(COLQ):c.57dup (p.Ile20fs) rs777102590
NM_005677.4(COLQ):c.588del (p.Gly198fs) rs1559519107
NM_005677.4(COLQ):c.631C>T (p.Gln211Ter)
NM_005677.4(COLQ):c.682G>T (p.Gly228Ter)
NM_005677.4(COLQ):c.700G>T (p.Gly234Ter) rs2062264317
NM_005677.4(COLQ):c.706C>T (p.Arg236Ter)
NM_005677.4(COLQ):c.718G>T (p.Gly240Ter) rs104893735
NM_005677.4(COLQ):c.769dup (p.Ser257fs) rs2062200939
NM_005677.4(COLQ):c.788dup (p.Pro265fs) rs759911990
NM_005677.4(COLQ):c.798del (p.Gly267fs) rs2125103406
NM_005677.4(COLQ):c.844A>T (p.Arg282Ter) rs121908922
NM_005677.4(COLQ):c.847G>T (p.Gly283Ter)
NM_005677.4(COLQ):c.865G>T (p.Gly289Ter)
NM_005677.4(COLQ):c.893del (p.Asn298fs) rs2125089093
NM_005677.4(COLQ):c.955-2A>C
NM_005677.4(COLQ):c.955-2A>T rs1172409117
NM_005677.4:c.(814+1_815-1)_(954+1_955-1)del
NM_005677.4:c.107_321del
NM_005984.5(SLC25A1):c.205G>T (p.Asp69Tyr) rs2083996886
NM_006901.4(MYO9A):c.4550G>A (p.Arg1517His) rs149046541
NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu) rs1567176190
NM_014231.5(VAMP1):c.128_129del (p.Glu43fs) rs1565527140
NM_014231.5(VAMP1):c.129+1G>A rs1565527137
NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro) rs754046104
NM_014231.5(VAMP1):c.340del (p.Ile114fs) rs746220436
NM_014231.5(VAMP1):c.51_64del (p.Gly18fs) rs1565527239
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr) rs121912823
NM_020549.5(CHAT):c.1027G>T (p.Glu343Ter)
NM_020549.5(CHAT):c.1058_1061dup (p.Ser355fs)
NM_020549.5(CHAT):c.1110_1111delAG (p.Asp371fs)
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
NM_020549.5(CHAT):c.1262G>C (p.Trp421Ser)
NM_020549.5(CHAT):c.1263G>A (p.Trp421Ter)
NM_020549.5(CHAT):c.1359_1363del (p.Cys453_Glu455delinsTer)
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
NM_020549.5(CHAT):c.1408C>T (p.Arg470Ter) rs142889639
NM_020549.5(CHAT):c.1435del (p.Ala479fs)
NM_020549.5(CHAT):c.1438_1444del (p.Pro480fs)
NM_020549.5(CHAT):c.1441del (p.Arg481fs)
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly) rs121912818
NM_020549.5(CHAT):c.1444dup (p.Arg482fs)
NM_020549.5(CHAT):c.1455G>A (p.Trp485Ter)
NM_020549.5(CHAT):c.1539_1542del (p.Tyr514fs)
NM_020549.5(CHAT):c.1542T>A (p.Tyr514Ter)
NM_020549.5(CHAT):c.1620dup (p.Leu541fs) rs2132820703
NM_020549.5(CHAT):c.1641_1642delinsCT (p.Arg548Ter)
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter) rs757303526
NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp) rs753652169
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
NM_020549.5(CHAT):c.1891G>A (p.Ala631Thr)
NM_020549.5(CHAT):c.1897del (p.Ala633fs)
NM_020549.5(CHAT):c.1905C>A (p.Cys635Ter)
NM_020549.5(CHAT):c.1909G>T (p.Glu637Ter) rs777684375
NM_020549.5(CHAT):c.418C>T (p.Gln140Ter) rs794727516
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
NM_020549.5(CHAT):c.472C>T (p.Gln158Ter) rs1838635016
NM_020549.5(CHAT):c.476_477delinsAG (p.Phe159Ter) rs1838635262
NM_020549.5(CHAT):c.522_523dup (p.Leu175fs) rs1404321683
NM_020549.5(CHAT):c.619del (p.Arg207fs)
NM_020549.5(CHAT):c.669del (p.Gln223fs) rs1554802808
NM_020549.5(CHAT):c.880_884del (p.Asn294fs)
NM_020549.5(CHAT):c.914T>C (p.Ile305Thr) rs75466054
NM_020549.5(CHAT):c.951del (p.Val318fs) rs2132735050
NM_020549.5(CHAT):c.982del (p.Asp328fs) rs1590576560
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_021815.5(SLC5A7):c.143A>G (p.Asp48Gly) rs886039768
NM_021815.5(SLC5A7):c.194G>A (p.Gly65Glu) rs886039765
NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser) rs886039766
NM_033087.4(ALG2):c.203T>G (p.Val68Gly) rs730882051
NM_033087.4(ALG2):c.214_224delinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg) rs730882123
NM_033087.4(ALG2):c.215_225del (p.Gly72fs) rs1828806340
NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn) rs1555794286
NM_130811.4(SNAP25):c.529C>T (p.Gln177Ter)
NM_144988.4(ALG14):c.194C>T (p.Pro65Leu) rs730882050
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs) rs1553850100
NM_173660.5(DOK7):c.1040_1041del (p.Ser347fs)
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1138dup (p.Ala380fs) rs761899995
NM_173660.5(DOK7):c.1143del (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1143dup (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1153_1166delinsAGGGGCCCCCGA (p.Leu385fs)
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
NM_173660.5(DOK7):c.1257_1269del (p.Ser419fs)
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1264del (p.Ser422fs) rs1258346283
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter) rs1728650830
NM_173660.5(DOK7):c.1271_1280dup (p.Asn428fs)
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) rs778172294
NM_173660.5(DOK7):c.1296_1311dup (p.Thr438fs)
NM_173660.5(DOK7):c.1310_1320del (p.Gln437fs)
NM_173660.5(DOK7):c.1323del (p.Cys442fs) rs1210035894
NM_173660.5(DOK7):c.1323dup (p.Cys442fs)
NM_173660.5(DOK7):c.1324_1357del (p.Cys442fs)
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs) rs606231131
NM_173660.5(DOK7):c.1348del (p.Arg450fs)
NM_173660.5(DOK7):c.1358dup (p.Leu454fs) rs775544277
NM_173660.5(DOK7):c.1361_1374del (p.Leu454fs)
NM_173660.5(DOK7):c.1367dup (p.Met456fs)
NM_173660.5(DOK7):c.1372dup (p.Ala458fs)
NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter)
NM_173660.5(DOK7):c.1378del (p.Gln460fs)
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.1387G>T (p.Glu463Ter) rs745941308
NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs) rs1728671600
NM_173660.5(DOK7):c.1441dup (p.His481fs) rs1168106708
NM_173660.5(DOK7):c.1457del (p.Pro486fs) rs1577184455
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) rs797045040
NM_173660.5(DOK7):c.199C>T (p.Pro67Ser) rs1553846331
NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)
NM_173660.5(DOK7):c.28del (p.Gln10fs) rs1560200925
NM_173660.5(DOK7):c.298dup (p.Trp100fs)
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter) rs2109336441
NM_173660.5(DOK7):c.325G>A (p.Gly109Ser) rs762952740
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
NM_173660.5(DOK7):c.429del (p.Asp143fs)
NM_173660.5(DOK7):c.457A>T (p.Lys153Ter) rs1727096342
NM_173660.5(DOK7):c.463_466del (p.Ser155fs)
NM_173660.5(DOK7):c.473G>A (p.Arg158Gln)
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter) rs550024569
NM_173660.5(DOK7):c.483_484dup (p.Ala162fs) rs1577153124
NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.539G>C (p.Gly180Ala) rs118203994
NM_173660.5(DOK7):c.54+25_55-38del rs769850502
NM_173660.5(DOK7):c.548_551del (p.Phe183fs) rs606231130
NM_173660.5(DOK7):c.55-1G>T rs863223277
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter) rs118203995
NM_173660.5(DOK7):c.668dup (p.Pro224fs)
NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)
NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)
NM_173660.5(DOK7):c.718C>T (p.Gln240Ter)
NM_173660.5(DOK7):c.743_746dup (p.His250fs) rs1560224831
NM_173660.5(DOK7):c.757_772+3del
NM_173660.5(DOK7):c.810_811del (p.His272fs) rs778227501
NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)
NM_173660.5(DOK7):c.894dup (p.Pro299fs)
NM_173660.5(DOK7):c.925del (p.Glu309fs) rs1182982672
NM_173660.5(DOK7):c.930_933del (p.Met311fs) rs2109417343
NM_173660.5(DOK7):c.957del (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)
NM_173660.5(DOK7):c.978_1018del (p.Gln326fs) rs2109417797
NM_177402.5(SYT2):c.1082_1096del (p.Asp361_Leu365del) rs2149063996
NM_177402.5(SYT2):c.1094T>C (p.Leu365Pro) rs2149064005
NM_177402.5(SYT2):c.1112T>A (p.Ile371Lys) rs1690318147
NM_177402.5(SYT2):c.1191del (p.Arg397fs) rs2149063864
NM_177402.5(SYT2):c.465+1G>A rs2149069543
NM_177402.5(SYT2):c.725dup (p.Val243fs) rs2149068434
NM_177402.5(SYT2):c.797_801+1del
NM_177402.5(SYT2):c.805G>T (p.Glu269Ter) rs2149067131
NM_177402.5(SYT2):c.920A>C (p.Asp307Ala) rs587777781
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu) rs587777782
NM_198576.4(AGRN):c.1036_1039dup (p.Glu347fs) rs1570195582
NM_198576.4(AGRN):c.1057C>T (p.Gln353Ter) rs587777299
NM_198576.4(AGRN):c.1077_1083del (p.Asp359fs) rs2100635216
NM_198576.4(AGRN):c.1105_1106del (p.Val369fs) rs2100635414
NM_198576.4(AGRN):c.1197C>A (p.Cys399Ter)
NM_198576.4(AGRN):c.1275C>G (p.Tyr425Ter) rs1239736447
NM_198576.4(AGRN):c.1668del (p.Ser557fs)
NM_198576.4(AGRN):c.1734C>A (p.Cys578Ter)
NM_198576.4(AGRN):c.2002G>T (p.Glu668Ter) rs199801106
NM_198576.4(AGRN):c.2500C>T (p.Arg834Ter) rs1645065317
NM_198576.4(AGRN):c.2645_2654del (p.Asp882fs)
NM_198576.4(AGRN):c.3003dup (p.Gly1002fs) rs763573703
NM_198576.4(AGRN):c.3229del (p.Ala1077fs)
NM_198576.4(AGRN):c.3497_3500del (p.Ala1166fs)
NM_198576.4(AGRN):c.369C>A (p.Tyr123Ter)
NM_198576.4(AGRN):c.3724C>T (p.Gln1242Ter) rs2100666336
NM_198576.4(AGRN):c.4389G>A (p.Trp1463Ter)
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)
NM_198576.4(AGRN):c.5125G>C (p.Gly1709Arg) rs199476396
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe) rs587777298
NM_198576.4(AGRN):c.543dup (p.Val182fs) rs1425913203
NM_198576.4(AGRN):c.5554_5555dup (p.Glu1853fs) rs2100689699
NM_198576.4(AGRN):c.5703del (p.Thr1902fs) rs2100699601
NM_198576.4(AGRN):c.574_578dup (p.Ser194fs) rs1570190059
NM_198576.4(AGRN):c.5753_5754del (p.Tyr1918fs) rs753401796
NM_198576.4(AGRN):c.667dup (p.Leu223fs) rs1644909838
NM_198576.4(AGRN):c.893_903del (p.Leu298fs)
NM_198576.4(AGRN):c.902_912del (p.Arg301fs) rs1570193864
NM_198576.4(AGRN):c.914_947del (p.Arg305fs) rs1557700705

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