ClinVar Miner

List of variants reported as likely pathogenic for See cases

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1265
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) rs756587384 0.00037
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) rs764928653 0.00036
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del) rs759270179 0.00036
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_001395426.1(PDE4DIP):c.3874C>T (p.Arg1292Cys) rs141315681 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_001171.6(ABCC6):c.1058C>T (p.Ala353Val) rs369074083 0.00010
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu) rs199730889 0.00010
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_021957.4(GYS2):c.495+1G>T rs372079212 0.00009
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382 0.00007
NM_005006.7(NDUFS1):c.1393-2A>C rs370009373 0.00007
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_001002294.3(FMO3):c.929C>T (p.Ser310Leu) rs572292275 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_015570.4(AUTS2):c.1717C>T (p.Pro573Ser) rs1051952947 0.00005
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_001134665.3(TRMT10A):c.226C>T (p.Arg76Ter) rs748994888 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr) rs768633670 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_002063.4(GLRA2):c.1334G>A (p.Arg445Gln) rs768735440 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_000095.3(COMP):c.529-2A>T rs1010796800 0.00002
NM_000163.5(GHR):c.1802_1803del (p.Val601fs) rs777688795 0.00002
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys) rs774614339 0.00002
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) rs114073621 0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_014334.4(FRRS1L):c.622C>T (p.Arg208Cys) rs955397173 0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter) rs568207978 0.00002
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile) rs1372719653 0.00002
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer) rs1207177925 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) rs121912524 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208 0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647 0.00001
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly) rs1192702664 0.00001
NM_000454.5(SOD1):c.358G>C (p.Val120Leu) rs1457889952 0.00001
NM_001029896.2(WDR45):c.695G>A (p.Arg232His) rs781978699 0.00001
NM_001031689.3(PLAA):c.1487-1G>A rs1426488816 0.00001
NM_001080483.3(MYMK):c.298G>A (p.Gly100Ser) rs964335184 0.00001
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr) rs796053037 0.00001
NM_001171613.2(PREPL):c.-42del rs749853265 0.00001
NM_001286577.2(C2CD3):c.4486C>T (p.Arg1496Ter) rs1189478751 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_002063.4(GLRA2):c.1199C>T (p.Pro400Leu) rs370575329 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002470.4(MYH3):c.736-2A>G rs990374215 0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920 0.00001
NM_004667.6(HERC2):c.4352-1G>A rs1279608901 0.00001
NM_005033.3(EXOSC9):c.329dup (p.Arg111fs) rs754121759 0.00001
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) rs185476065 0.00001
NM_005121.3(MED13):c.5683_5684del (p.Met1895fs) rs750570850 0.00001
NM_005149.3(TBX19):c.608C>T (p.Thr203Met) rs748717639 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006567.5(FARS2):c.1256G>A (p.Arg419His) rs202183509 0.00001
NM_014845.6(FIG4):c.1949-10T>G rs896444437 0.00001
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp) rs267606740 0.00001
NM_015959.4(TMX2):c.392del (p.Leu131fs) rs758529293 0.00001
NM_015959.4(TMX2):c.454C>T (p.Arg152Trp) rs960444778 0.00001
NM_017755.6(NSUN2):c.1222C>T (p.Arg408Ter) rs1221890051 0.00001
NM_018122.5(DARS2):c.493-1G>C rs771905691 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.517T>C (p.Cys173Arg) rs372577568 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val) rs777812455 0.00001
NM_024989.4(PGAP1):c.691C>T (p.Arg231Ter) rs1364192556 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_032620.4(GTPBP3):c.17G>A (p.Trp6Ter) rs756394857 0.00001
NM_080680.3(COL11A2):c.1119+1G>A rs367706373 0.00001
NM_182931.3(KMT2E):c.2452C>T (p.Arg818Ter) rs1584802744 0.00001
NM_199242.3(UNC13D):c.2212C>T (p.Gln738Ter) rs764507196 0.00001
GRCh37/hg19 10p14(chr10:8056289-8118665)x3
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1
GRCh37/hg19 10q11.22-11.23(chr10:49392896-52372011)x3
GRCh37/hg19 10q21.1-21.2(chr10:57587928-64212007)x1
GRCh37/hg19 10q26.2-26.3(chr10:129825453-135427143)x1
GRCh37/hg19 10q26.3(chr10:130693843-134772865)x1
GRCh37/hg19 10q26.3(chr10:134624870-135427143)x1
GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3
GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1
GRCh37/hg19 11q13.4(chr11:70440222-70605728)x1
GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1
GRCh37/hg19 11q23.1(chr11:111779685-111797221)x1
GRCh37/hg19 11q24.3(chr11:128047942-129015375)x1
GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3
GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3
GRCh37/hg19 12p13.1(chr12:14062058-14210918)x1
GRCh37/hg19 12p13.1-12.3(chr12:14269084-14855982)x1
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3
GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3
GRCh37/hg19 12q12(chr12:42871679-42898233)x1
GRCh37/hg19 12q13.13(chr12:51946335-52024220)x1
GRCh37/hg19 12q15(chr12:70588735-71366869)x1
GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1
GRCh37/hg19 12q24.21(chr12:116321989-116681294)x3
GRCh37/hg19 12q24.21(chr12:116462247-116603459)x1
GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1
GRCh37/hg19 12q24.31(chr12:123404920-124192840)
GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1
GRCh37/hg19 13q12.3(chr13:30841652-31177774)x1
GRCh37/hg19 13q32.1-33.1(chr13:98158452-101950563)x3
GRCh37/hg19 13q32.2-33.1(chr13:98607855-104370539)x3
GRCh37/hg19 14q11.2(chr14:23859940-23889004)x1
GRCh37/hg19 14q22.3(chr14:56559797-58063452)x1
GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1
GRCh37/hg19 14q24.3-31.1(chr14:79293058-79466714)x1
GRCh37/hg19 15q11.2(chr15:22746948-23323445)x1
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
GRCh37/hg19 15q11.2(chr15:25169355-25436179)x1
GRCh37/hg19 15q11.2(chr15:25196959-25200389)x1
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28526410)x3
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x3
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29214721)x3
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28958779)x3
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28534245)x3
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28953483)x3
GRCh37/hg19 15q13.1-13.2(chr15:29214105-30366065)x1
GRCh37/hg19 15q13.2-13.3(chr15:30936285-32514341)x3
GRCh37/hg19 15q13.2-13.3(chr15:31115047-32917857)x3
GRCh37/hg19 15q13.3(chr15:32024132-32418279)x1
GRCh37/hg19 15q14(chr15:37279667-37338453)x1
GRCh37/hg19 15q21.1(chr15:48771569-48892364)x3
GRCh37/hg19 15q21.3(chr15:57518653-58974175)x3
GRCh37/hg19 15q25.2(chr15:83169558-84847653)x1
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3
GRCh37/hg19 16p11.2(chr16:28825605-29043450)x3
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1
GRCh37/hg19 16p11.2(chr16:28833437-29046252)x3
GRCh37/hg19 16p11.2(chr16:29421662-30240227)x3
GRCh37/hg19 16p11.2(chr16:29421694-30240227)x3
GRCh37/hg19 16p11.2(chr16:29517698-30243606)x3
GRCh37/hg19 16p11.2(chr16:29571473-30243606)x3
GRCh37/hg19 16p11.2(chr16:29571474-30243606)x3
GRCh37/hg19 16p11.2(chr16:29580020-30177240)x3
GRCh37/hg19 16p11.2(chr16:29580020-30191848)x3
GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3
GRCh37/hg19 16p11.2(chr16:29591078-30177807)x3
GRCh37/hg19 16p11.2(chr16:29591078-30302348)x3
GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1
GRCh37/hg19 16p12.2(chr16:21936726-22461225)x1
GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3
GRCh37/hg19 16p13.11(chr16:14896385-16519643)x1
GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1
GRCh37/hg19 16p13.11(chr16:14968859-16291983)x3
GRCh37/hg19 16p13.11(chr16:14975292-16291099)x3
GRCh37/hg19 16p13.11(chr16:15420069-16388244)x1
GRCh37/hg19 16p13.11-12.3(chr16:15499057-18264837)x4
GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1
GRCh37/hg19 16q23.1(chr16:78159696-78320350)x0
GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4
GRCh37/hg19 16q24.2(chr16:87333237-87457042)x1
GRCh37/hg19 16q24.3(chr16:89388113-89541926)x1
GRCh37/hg19 16q24.3(chr16:89405415-89607414)x1
GRCh37/hg19 17p11.2(chr17:17117620-17118776)x1
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x1
GRCh37/hg19 17p12(chr17:14095639-15274712)x1
GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1
GRCh37/hg19 17p13.3(chr17:10622-1511353)x1
GRCh37/hg19 17p13.3(chr17:1165433-1277056)x1
GRCh37/hg19 17p13.3(chr17:2213316-2901583)x3
GRCh37/hg19 17p13.3(chr17:808735-1850373)x3
GRCh37/hg19 17p13.3(chr17:900530-1747271)x3
GRCh37/hg19 17p13.3(chr17:936458-1483192)x3
GRCh37/hg19 17p13.3(chr17:936458-1647108)x3
GRCh37/hg19 17p13.3(chr17:961016-1641881)x3
GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3
GRCh37/hg19 17q12(chr17:34437482-36244358)x3
GRCh37/hg19 17q12(chr17:34437482-36350584)x3
GRCh37/hg19 17q12(chr17:34437482-36404555)x3
GRCh37/hg19 17q12(chr17:34822465-36225988)x3
GRCh37/hg19 17q12(chr17:34822465-36244358)x3
GRCh37/hg19 17q12(chr17:34822465-36283612)x3
GRCh37/hg19 17q12(chr17:34822465-36350005)x3
GRCh37/hg19 17q12(chr17:34822465-36410559)x3
GRCh37/hg19 17q21.31(chr17:43655356-44292742)x3
GRCh37/hg19 17q21.31(chr17:43710150-44292742)x3
GRCh37/hg19 17q22(chr17:55916829-56770618)x1
GRCh37/hg19 18p11.21(chr18:12362219-12423408)x1
GRCh37/hg19 18q12.1-12.2(chr18:30368042-36078516)x1
GRCh37/hg19 18q21.2(chr18:50443167-50647809)x3
GRCh37/hg19 18q21.2(chr18:53269093-53321026)x1
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1
GRCh37/hg19 18q23(chr18:74347427-75077574)x3
GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1
GRCh37/hg19 19p13.2(chr19:13180583-13319148)x3
GRCh37/hg19 19p13.2(chr19:13561015-13604751)x1
GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3
GRCh37/hg19 19q11-12(chr19:28271107-31110233)x1
GRCh37/hg19 19q12(chr19:30112378-31939682)x3
GRCh37/hg19 19q13.32(chr19:47450549-47880338)x3
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1
GRCh37/hg19 19q13.33(chr19:50071364-50165942)x1
GRCh37/hg19 19q13.33(chr19:50364553-50365166)x1
GRCh37/hg19 1p31.1(chr1:75648797-77770044)x1
GRCh37/hg19 1p34.2(chr1:41343608-43121507)x1
GRCh37/hg19 1p36.22(chr1:11053101-11336968)x1
GRCh37/hg19 1p36.22(chr1:9444639-9502799)x1
GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1
GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1
GRCh37/hg19 1p36.23(chr1:7394507-7638032)x1
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3
GRCh37/hg19 1p36.33(chr1:1309373-2043694)x4
GRCh37/hg19 1p36.33(chr1:1477184-2239438)x1
GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3
GRCh37/hg19 1q21.1(chr1:145368848-145735385)x3
GRCh37/hg19 1q21.1(chr1:145387945-145735385)x3
GRCh37/hg19 1q21.1(chr1:145398177-145764679)x1
GRCh37/hg19 1q21.1(chr1:145416056-146089268)x3
GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3
GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)x3
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x1
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147926347)x3
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147929323)x3
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147844758)x3
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147947839)x3
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147978640)x3
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147995251)x3
GRCh37/hg19 1q21.1-21.2(chr1:145895746-148893164)x3
GRCh37/hg19 1q21.1-21.2(chr1:145927662-147830830)x4
GRCh37/hg19 1q21.1-21.2(chr1:146003044-147832190)x3
GRCh37/hg19 1q21.1-21.2(chr1:146096700-147830830)x3
GRCh37/hg19 1q21.1-21.2(chr1:146470888-147830903)x3
GRCh37/hg19 1q21.1-21.2(chr1:146496381-147819294)x3
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147814497)x3
GRCh37/hg19 1q21.1-21.2(chr1:146498298-147819294)x3
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3
GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4
GRCh37/hg19 1q44(chr1:244091747-244745425)x1
GRCh37/hg19 1q44(chr1:244197791-249224684)x4
GRCh37/hg19 20p11.22-11.21(chr20:21680345-24383453)x1
GRCh37/hg19 20p12.3(chr20:6143179-8611534)x1
GRCh37/hg19 20p13(chr20:61568-1651420)x1
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3
GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1
GRCh37/hg19 20q11.21(chr20:30947071-31052777)x1
GRCh37/hg19 20q13.12(chr20:42981187-42987120)x1
GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1
GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3
GRCh37/hg19 20q13.33(chr20:62662139-62714797)x1
GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3
GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1
GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1
GRCh37/hg19 22q11.21(chr22:20754407-21457610)x1
GRCh37/hg19 22q11.21(chr22:21062168-21463730)x1
GRCh37/hg19 22q11.21(chr22:21062566-21463730)x1
GRCh37/hg19 22q11.21(chr22:21069073-21463730)x1
GRCh37/hg19 22q11.21(chr22:21074920-21440514)x1
GRCh37/hg19 22q11.21(chr22:21081284-21457610)x1
GRCh37/hg19 22q11.21-11.22(chr22:21923858-22963000)x1
GRCh37/hg19 22q11.22-11.23(chr22:22989304-23666474)x1
GRCh37/hg19 22q11.22-11.23(chr22:23258229-23654222)x1
GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3
GRCh37/hg19 22q12.1(chr22:29105415-29115517)x1
GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3
GRCh37/hg19 22q13.1(chr22:38322968-38965458)
GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1
GRCh37/hg19 22q13.31(chr22:46421842-46964908)x1
GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1
GRCh37/hg19 22q13.33(chr22:51107230-51166282)x3
GRCh37/hg19 2p15(chr2:61335464-61757267)x1
GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1
GRCh37/hg19 2p16.3(chr2:50844015-51586061)x1
GRCh37/hg19 2p21(chr2:43386188-45013725)x3
GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3
GRCh37/hg19 2q11.1-11.2(chr2:96737083-98261802)x1
GRCh37/hg19 2q11.1-11.2(chr2:96747466-98193473)x1
GRCh37/hg19 2q13(chr2:111368818-113065741)x3
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1
GRCh37/hg19 2q21.1(chr2:131477947-131933576)x1
GRCh37/hg19 2q21.1(chr2:131477947-131950529)x1
GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1
GRCh37/hg19 2q21.1(chr2:131477947-131975365)x1
GRCh37/hg19 2q23.1(chr2:148746282-148820654)x1
GRCh37/hg19 2q23.1(chr2:148778595-148799306)x1
GRCh37/hg19 2q23.1(chr2:148942537-149035397)x1
GRCh37/hg19 2q23.1(chr2:148957572-149027461)x1
GRCh37/hg19 2q24.3(chr2:165065255-166517749)
GRCh37/hg19 2q24.3(chr2:166175328-166219034)x1
GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1
GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1
GRCh37/hg19 2q33.1(chr2:201949918-201950495)x1
GRCh37/hg19 2q33.2-33.3(chr2:204032747-205890355)x1
GRCh37/hg19 2q34(chr2:212384649-214064185)x1
GRCh37/hg19 2q36.3-37.1(chr2:230491213-231404389)x1
GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3
GRCh37/hg19 2q37.3(chr2:240203374-240432589)x1
GRCh37/hg19 2q37.3(chr2:240541136-242783384)x1
GRCh37/hg19 2q37.3(chr2:240630455-242783384)x1
GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1
GRCh37/hg19 3p13(chr3:71129956-71255015)x1
GRCh37/hg19 3p14.2-14.1(chr3:60526226-63742930)x1
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3
GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1
GRCh37/hg19 3p25.2(chr3:12633308-12777019)x3
GRCh37/hg19 3p25.3(chr3:9405337-10168892)x3
GRCh37/hg19 3p25.3(chr3:9421663-9574327)x1
GRCh37/hg19 3p25.3(chr3:9425742-9481293)x1
GRCh37/hg19 3p26.3(chr3:315102-1125700)x1
GRCh37/hg19 3p26.3-26.2(chr3:270649-3927005)x1
GRCh37/hg19 3p26.3-26.2(chr3:2756990-2818938)x3
GRCh37/hg19 3q13.31(chr3:114260384-116691114)x1
GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3
GRCh37/hg19 3q21.1(chr3:123477546-123688038)x1
GRCh37/hg19 3q21.1(chr3:123563319-123618911)x0
GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3
GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1
GRCh37/hg19 3q26.31(chr3:171622716-171968102)x1
GRCh37/hg19 3q29(chr3:193360287-193360759)x1
GRCh37/hg19 3q29(chr3:196281672-197681798)x3
GRCh37/hg19 4p16.3(chr4:1420948-1836794)x3
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3
GRCh37/hg19 4q21.21-21.23(chr4:82359656-84155605)x1
GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1
GRCh37/hg19 4q24(chr4:101953182-102026137)x1
GRCh37/hg19 4q31.23(chr4:149135444-149320303)x3
GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1
GRCh37/hg19 4q35.1-35.2(chr4:186349585-190957473)x1
GRCh37/hg19 5p13.2(chr5:36814048-37347486)x3
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3
GRCh37/hg19 5q11.1(chr5:49430268-50213279)x1
GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4
GRCh37/hg19 5q14.3(chr5:86621337-89204392)x3
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3
GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1
GRCh37/hg19 5q34(chr5:160684919-161677172)x1
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1
GRCh37/hg19 6p25.3(chr6:1703078-1918006)x1
GRCh37/hg19 6q14.1(chr6:76621150-76780723)x1
GRCh37/hg19 6q24.3-25.1(chr6:148364229-149928368)x1
GRCh37/hg19 6q25.1(chr6:149538900-149670630)x1
GRCh37/hg19 6q25.3(chr6:157119943-157519050)x3
GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1
GRCh37/hg19 7p15.3-15.2(chr7:25448425-27578387)x3
GRCh37/hg19 7p21.2-21.1(chr7:14675063-18907030)x1
GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3
GRCh37/hg19 7p22.3(chr7:43360-2057743)x1
GRCh37/hg19 7q11.22(chr7:69736775-69822421)x1
GRCh37/hg19 7q11.22(chr7:69880612-69923503)x3
GRCh37/hg19 7q11.22(chr7:70131299-70188336)x1
GRCh37/hg19 7q11.22(chr7:70145924-70236757)x1
GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1
GRCh37/hg19 7q11.23(chr7:73791725-74133273)x1
GRCh37/hg19 7q21.11(chr7:77972816-78186999)x1
GRCh37/hg19 7q21.11(chr7:77972816-79082129)x1
GRCh37/hg19 7q21.11(chr7:80348675-83666606)x1
GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1
GRCh37/hg19 7q22.1-22.3(chr7:103354482-105407628)
GRCh37/hg19 7q22.1-22.3(chr7:103679146-105547471)
GRCh37/hg19 7q22.3(chr7:104678742-104730547)
GRCh37/hg19 7q34(chr7:140616125-140740863)x3
GRCh37/hg19 7q35(chr7:146333770-146445991)x1
GRCh37/hg19 7q35(chr7:147006667-147101307)x1
GRCh37/hg19 7q36.1-36.2(chr7:151387196-154070094)x1
GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3
GRCh37/hg19 7q36.2-36.3(chr7:154963758-157582526)x3
GRCh37/hg19 7q36.3(chr7:156431577-157598312)x1
GRCh37/hg19 8p23.1(chr8:10110508-11882401)x3
GRCh37/hg19 8p23.1(chr8:11362682-11709476)x3
GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3
GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1
GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1
GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3
GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1
GRCh37/hg19 8q22.3(chr8:102590127-104034598)x1
GRCh37/hg19 8q24.21-24.22(chr8:128295596-133200773)x1
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3
GRCh37/hg19 9p23(chr9:13759474-14144821)x1
GRCh37/hg19 9p24.3(chr9:404753-407272)x1
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3
GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1
GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)x1
GRCh37/hg19 9q22.32(chr9:97827936-98639567)
GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3
GRCh37/hg19 9q31.3(chr9:111529810-113539990)x3
GRCh37/hg19 9q33.1(chr9:118602947-121246861)x1
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3
GRCh37/hg19 9q34.3(chr9:140550908-140632178)x1
GRCh37/hg19 Xp11.23(chrX:47705458-47863717)x3
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2
GRCh37/hg19 Xp11.4-11.3(chrX:40933552-45379179)x2
GRCh37/hg19 Xp21.3(chrX:28803130-28903570)x2
GRCh37/hg19 Xp21.3-21.2(chrX:28939939-29452556)x3
GRCh37/hg19 Xp22.11(chrX:23018417-23093129)x0
GRCh37/hg19 Xp22.13(chrX:18465281-18542758)x2
GRCh37/hg19 Xp22.2(chrX:10810471-11339263)x3
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2
GRCh37/hg19 Xp22.31(chrX:6179830-8605251)x2
GRCh37/hg19 Xp22.31(chrX:6450700-8138035)x2
GRCh37/hg19 Xp22.31(chrX:6458166-8135053)x2
GRCh37/hg19 Xp22.31(chrX:6476350-8135053)x3
GRCh37/hg19 Xp22.31(chrX:6477550-8119329)x2
GRCh37/hg19 Xp22.31(chrX:6596639-8135053)x3
GRCh37/hg19 Xp22.33(chrX:2873380-2878978)x2
GRCh37/hg19 Xp22.33(chrX:293493-568604)x3
GRCh37/hg19 Xp22.33(chrX:434857-979904)x3
GRCh37/hg19 Xp22.33(chrX:60814-594144)x3
GRCh37/hg19 Xq11.1(chrX:62754362-62931498)x0
GRCh37/hg19 Xq13.1(chrX:71568282-71769394)x3
GRCh37/hg19 Xq21.1(chrX:76959723-77242763)x3
GRCh37/hg19 Xq22.1(chrX:100852505-101986687)x0
GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3
GRCh37/hg19 Xq28(chrX:152864415-152878922)x1
GRCh37/hg19 Xq28(chrX:154256858-154297348)x0
GRCh37/hg19 Yq11.223(chrY:24007925-24891486)x0
GRCh37/hg19 Yq11.223-12(chrY:26137299-59336737)x0
GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3
GRCh38/hg38 10p13(chr10:12333253-13948472)x1
GRCh38/hg38 10p15.3(chr10:70478-1042794)x1
GRCh38/hg38 10p15.3(chr10:70478-312686)x1
GRCh38/hg38 10p15.3(chr10:70478-770688)x1
GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3
GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1
GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1
GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1
GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3
GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3
GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1
GRCh38/hg38 11p11.2(chr11:44114130-44171722)x1
GRCh38/hg38 11p11.2(chr11:44146437-44175772)x3
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3
GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3
GRCh38/hg38 11p13-12(chr11:36007377-40318124)x1
GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1
GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1
GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1
GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1
GRCh38/hg38 11q25(chr11:133169303-135068576)x1
GRCh38/hg38 12p12.1(chr12:23460257-24693739)x1
GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1
GRCh38/hg38 12p13.1(chr12:13634987-13726033)x3
GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1
GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3
GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1
GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1
GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1
GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3
GRCh38/hg38 12q24.13(chr12:112416863-112426595)x3
GRCh38/hg38 12q24.21(chr12:116038358-116218486)x1
GRCh38/hg38 12q24.21(chr12:116103617-116165654)x1
GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3
GRCh38/hg38 13q31.1-31.3(chr13:84005264-92784013)x1
GRCh38/hg38 13q34(chr13:111118651-114340331)x3
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3
GRCh38/hg38 14q21.1(chr14:37533702-38648187)x1
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3
GRCh38/hg38 14q24.1(chr14:67876421-69247382)x1
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1
GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1
GRCh38/hg38 14q31.1(chr14:78953954-79461926)x1
GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
GRCh38/hg38 15q13.3(chr15:31772780-32217731)x1
GRCh38/hg38 15q13.3(chr15:31772797-32275124)x1
GRCh38/hg38 15q13.3(chr15:31772797-32384654)x1
GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1
GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1
GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1
GRCh38/hg38 15q26.1(chr15:92900864-93043584)x1
GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3
GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3
GRCh38/hg38 15q26.3(chr15:98669058-98873604)x3
GRCh38/hg38 16p11.2(chr16:28813473-29122414)x1
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3
GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3
GRCh38/hg38 16p11.2(chr16:29466738-30186020)x3
GRCh38/hg38 16p11.2(chr16:29466738-30320693)x3
GRCh38/hg38 16p11.2(chr16:29506377-30165919)x3
GRCh38/hg38 16p11.2(chr16:29506377-30180527)x3
GRCh38/hg38 16p11.2(chr16:29555975-30180527)x3
GRCh38/hg38 16p11.2(chr16:29568699-30228906)x3
GRCh38/hg38 16p11.2(chr16:29568699-30295634)x3
GRCh38/hg38 16p11.2(chr16:29569779-30228906)x3
GRCh38/hg38 16p11.2(chr16:29579233-30179247)x3
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x3
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x3
GRCh38/hg38 16p11.2(chr16:29598613-30165919)x3
GRCh38/hg38 16p11.2(chr16:29609368-30179188)x3
GRCh38/hg38 16p11.2(chr16:29609368-30320693)x3
GRCh38/hg38 16p11.2(chr16:29627319-30165919)x3
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x3
GRCh38/hg38 16p11.2(chr16:29645363-30321270)x3
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3
GRCh38/hg38 16p11.2(chr16:29662635-30186020)x3
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x3
GRCh38/hg38 16p11.2(chr16:29682770-30186020)x3
GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x1
GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3
GRCh38/hg38 16p13.11(chr16:15398450-16211820)x1
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18236409)x3
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18212997)x1
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18272881)x1
GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1
GRCh38/hg38 16p13.2(chr16:8994630-9793745)x3
GRCh38/hg38 16p13.3(chr16:2089462-2092132)x1
GRCh38/hg38 16p13.3(chr16:2089647-2096105)x1
GRCh38/hg38 16p13.3(chr16:2406643-2782411)x1
GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3
GRCh38/hg38 16p13.3(chr16:3777551-3799207)x3
GRCh38/hg38 16p13.3(chr16:979282-1005769)x3
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3
GRCh38/hg38 16q24.1-24.2(chr16:86672163-87766879)x1
GRCh38/hg38 16q24.2(chr16:87150123-87812135)x1
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3
GRCh38/hg38 16q24.3(chr16:89343221-89494861)x1
GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1
GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1
GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3
GRCh38/hg38 17p13.3(chr17:1119701-1561544)x3
GRCh38/hg38 17p13.3(chr17:1149477-1473293)x3
GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1
GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3
GRCh38/hg38 17p13.3(chr17:1311837-1368660)x3
GRCh38/hg38 17p13.3(chr17:1311837-1530439)x3
GRCh38/hg38 17p13.3(chr17:1332460-1355696)x3
GRCh38/hg38 17p13.3(chr17:1348488-1358016)x3
GRCh38/hg38 17p13.3(chr17:1373829-1525806)x1
GRCh38/hg38 17p13.3(chr17:1375174-1405502)x1
GRCh38/hg38 17p13.3(chr17:162016-1682817)x3
GRCh38/hg38 17p13.3(chr17:162016-1904358)x1
GRCh38/hg38 17p13.3(chr17:162016-2099130)x1
GRCh38/hg38 17p13.3(chr17:2403263-2960737)x3
GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3
GRCh38/hg38 17q11.2(chr17:30614048-30999204)x1
GRCh38/hg38 17q11.2(chr17:30706864-31016678)x1
GRCh38/hg38 17q12(chr17:36357258-38225796)x3
GRCh38/hg38 17q12(chr17:36461608-37889296)x3
GRCh38/hg38 17q23.2(chr17:62039036-62927189)x3
GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1
GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1
GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1
GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1
GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1
GRCh38/hg38 18p11.31(chr18:3447721-3451783)x1
GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1
GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1
GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3
GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3
GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3
GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3
GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1
GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1
GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3
GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1
GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3
GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1
GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1
GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4
GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3
GRCh38/hg38 1p36.21(chr1:13400935-15356944)x1
GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1
GRCh38/hg38 1p36.22(chr1:10245412-10637093)x1
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3
GRCh38/hg38 1p36.23(chr1:7404800-7606118)x1
GRCh38/hg38 1p36.31-36.23(chr1:7028200-7162042)x1
GRCh38/hg38 1p36.33(chr1:914086-1538895)x1
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3
GRCh38/hg38 1q21.1(chr1:145601946-146065803)x1
GRCh38/hg38 1q21.1(chr1:145646117-146019823)x1
GRCh38/hg38 1q21.1(chr1:145691625-146082575)x3
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3
GRCh38/hg38 1q21.1-21.2(chr1:146355224-148503773)x3
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x4
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3
GRCh38/hg38 1q21.1-21.2(chr1:147016574-149087283)x3
GRCh38/hg38 1q21.1-21.2(chr1:147026741-149087283)x3
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3
GRCh38/hg38 1q21.1-21.2(chr1:147036093-148352084)x3
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148436984)x3
GRCh38/hg38 1q21.2(chr1:147773472-148355961)x3
GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1
GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1
GRCh38/hg38 1q23.3(chr1:161329273-161356785)x3
GRCh38/hg38 1q41(chr1:222676842-223882311)x1
GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4
GRCh38/hg38 1q42.2(chr1:231432777-231696534)x1
GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3
GRCh38/hg38 20p13(chr20:80106-1246891)x1
GRCh38/hg38 20p13(chr20:80927-1806080)x1
GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4
GRCh38/hg38 20q11.22(chr20:35051855-35438457)x1
GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3
GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1
GRCh38/hg38 21q21.1-21.3(chr21:22270514-27695129)x1
GRCh38/hg38 21q22.11(chr21:33361172-34048047)x1
GRCh38/hg38 22p11.2-q11.1(chr22:10874347-15903760)x1
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1
GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1
GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1
GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1
GRCh38/hg38 2p15(chr2:61288659-61495559)x1
GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3
GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3
GRCh38/hg38 2p25.2-25.1(chr2:4416714-7632837)x1
GRCh38/hg38 2p25.3(chr2:12770-2310816)x1
GRCh38/hg38 2p25.3(chr2:17019-1645317)x1
GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3
GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1
GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1
GRCh38/hg38 2q12.1(chr2:104646642-105064104)x1
GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1
GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1
GRCh38/hg38 2q14.2(chr2:120621488-121102933)x3
GRCh38/hg38 2q14.2(chr2:120815240-120979362)x3
GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1
GRCh38/hg38 2q21.1(chr2:130720173-131278036)x1
GRCh38/hg38 2q22.3-23.1(chr2:147680433-148220153)x1
GRCh38/hg38 2q22.3-23.1(chr2:147713771-148177277)x1
GRCh38/hg38 2q23.1(chr2:147969499-148122112)x1
GRCh38/hg38 2q23.1(chr2:147988713-148069129)x1
GRCh38/hg38 2q23.1(chr2:148177218-148220153)x1
GRCh38/hg38 2q24.2(chr2:160005773-161921922)x1
GRCh38/hg38 2q24.3(chr2:163419387-165682938)x1
GRCh38/hg38 2q24.3(chr2:164941760-165764726)x3
GRCh38/hg38 2q31.2(chr2:177833189-178016682)x1
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1
GRCh38/hg38 2q33.1(chr2:199316281-199585721)x3
GRCh38/hg38 2q33.1(chr2:199374155-199381595)x1
GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4
GRCh38/hg38 2q37.3(chr2:239083430-239094006)x1
GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1
GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1
GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1
GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1
GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1
GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1
GRCh38/hg38 3p24.2(chr3:24295007-24410563)x1
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3
GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4
GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3
GRCh38/hg38 3p26.3-26.2(chr3:32241-3355776)x1
GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3
GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1
GRCh38/hg38 3q21.1(chr3:123844472-123900064)x1
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1
GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3
GRCh38/hg38 3q26.31(chr3:171960150-172473569)x1
GRCh38/hg38 3q26.31(chr3:171968610-173131280)x1
GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1
GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1
GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1
GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1
GRCh38/hg38 3q28(chr3:191142435-192393271)x1
GRCh38/hg38 4p16.3(chr4:1699291-1973304)x1
GRCh38/hg38 4p16.3(chr4:1825301-1859026)x1
GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1
GRCh38/hg38 4p16.3(chr4:36424-1581567)x3
GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1
GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1
GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1
GRCh38/hg38 4q22.1(chr4:89537501-90291933)x1
GRCh38/hg38 4q22.2(chr4:92833132-93124343)x1
GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1
GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1
GRCh38/hg38 4q31.23(chr4:147920951-148356485)x1
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1
GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3
GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3
GRCh38/hg38 4q32.3-33(chr4:168140014-170186711)x3
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3
GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1
GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3
GRCh38/hg38 5q12.3(chr5:65413763-66430722)x1
GRCh38/hg38 5q14.3-15(chr5:92031269-93947338)x1
GRCh38/hg38 5q35.3(chr5:177118445-177374609)x3
GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3
GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1
GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1
GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3
GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1
GRCh38/hg38 6p23-22.3(chr6:14730556-17554091)x1
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3
GRCh38/hg38 6q14.3-15(chr6:84926864-87365441)x1
GRCh38/hg38 6q21(chr6:109612069-109749371)x1
GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1
GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1
GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1
GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1
GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1
GRCh38/hg38 6q25.3(chr6:156228411-157108989)x1
GRCh38/hg38 6q27(chr6:168802993-170714507)x1
GRCh38/hg38 6q27(chr6:170210927-170714507)x1
GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1
GRCh38/hg38 7p15.2(chr7:25903388-27022498)x1
GRCh38/hg38 7p15.3-15.2(chr7:23765383-26136158)x1
GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3
GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3
GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4
GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1
GRCh38/hg38 7p22.1(chr7:5578185-5775451)x1
GRCh38/hg38 7q11.21(chr7:62977012-66848675)
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)
GRCh38/hg38 7q21.11(chr7:80627421-80651297)x0
GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1
GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)x1
GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1
GRCh38/hg38 7q35(chr7:146649010-146778666)x1
GRCh38/hg38 7q35(chr7:146687000-147056525)x1
GRCh38/hg38 7q35(chr7:146713626-146913128)x1
GRCh38/hg38 7q35(chr7:147044014-147073985)x1
GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4
GRCh38/hg38 7q35-36.1(chr7:145999194-148860586)x1
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1
GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3
GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3
GRCh38/hg38 8p11.21(chr8:42236286-42758909)x1
GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3
GRCh38/hg38 8p23.2(chr8:3934205-4230645)x1
GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1
GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1
GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3
GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1
GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3
GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1
GRCh38/hg38 9q33.1(chr9:116747886-116862759)x1
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4
GRCh38/hg38 Xp11.22(chrX:50659076-50865411)x3
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3
GRCh38/hg38 Xp11.4(chrX:38632286-38698281)x0
GRCh38/hg38 Xp11.4(chrX:40165688-40662855)x2
GRCh38/hg38 Xp11.4(chrX:41736613-41807412)x2
GRCh38/hg38 Xp11.4(chrX:41787211-41795764)x1
GRCh38/hg38 Xp21.1(chrX:31518752-31636035)x3
GRCh38/hg38 Xp22.11(chrX:22774924-23081201)x0
GRCh38/hg38 Xp22.13(chrX:18570473-18651053)x1
GRCh38/hg38 Xp22.2(chrX:11108228-11121175)x3
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2
GRCh38/hg38 Xp22.33(chrX:646216-664161)x1
GRCh38/hg38 Xp22.33-22.2(chrX:4082541-12772302)x2
GRCh38/hg38 Xq13.1(chrX:69839596-70301821)x1
GRCh38/hg38 Xq23(chrX:112920714-116408703)x0
GRCh38/hg38 Xq24(chrX:120526664-120531454)x0
GRCh38/hg38 Xq26.1(chrX:129569469-129570537)x0
GRCh38/hg38 Xq26.2-26.3(chrX:133532321-137519462)x2
GRCh38/hg38 Xq26.2-26.3(chrX:134405152-134565964)x2
GRCh38/hg38 Xq28(chrX:153688786-153697345)x0
GRCh38/hg38 Xq28(chrX:153688786-153697345)x1
GRCh38/hg38 Xq28(chrX:154604412-154935279)x3
GRCh38/hg38 Xq28(chrX:154890313-155331062)x1
GRCh38/hg38 Xq28(chrX:154931352-155331063)x1
GRCh38/hg38 Yp11.31-q11.21(chrY:301880-11680029)x3
GRCh38/hg38 Yq11.21-11.221(chrY:12322751-13118630)x0
GRCh38/hg38 Yq11.21-12(chrY:11680193-26653790)x4
NCBI36/hg18 10p15.3(chr10:106418-1791937)x3
NCBI36/hg18 10q26.13-26.3(chr10:126994683-131957921)x1
NCBI36/hg18 10q26.2(chr10:128661757-129634868)x1
NCBI36/hg18 11q13.3(chr11:70496451-70581405)x1
NCBI36/hg18 16q24.2(chr16:85907310-86380860)x1
NCBI36/hg18 2q11.2(chr2:96094786-97572638)x1
NCBI36/hg18 2q32.3-33.1(chr2:195941520-200787299)x1
NCBI36/hg18 4q21.22-21.3(chr4:83538638-87767627)x1
NCBI36/hg18 4q34.3-35.1(chr4:180056301-185397737)x3
NCBI36/hg18 5q31.2-32(chr5:138306445-143964773)x3
NCBI36/hg18 6q14.1-14.3(chr6:79678455-84862865)x1
NCBI36/hg18 6q16.1-16.3(chr6:97691375-103286627)x3
NCBI36/hg18 8q24.12(chr8:119981124-120831431)x1
NCBI36/hg18 8q24.13(chr8:125595512-126883514)x1
NC_000010.11:g.(45723954_50064424)dup rs2133928325
NC_000010.11:g.(45796863_50064424)dup rs2135895684
NC_000012.12:g.(4070169_7000753)dup rs1344356908
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_012920.1(MT-ND1):m.3761C>A rs1603219126
NM_000030.3(AGXT):c.416_418del (p.Val139del) rs180177215
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000088.4(COL1A1):c.1571G>C (p.Gly524Ala)
NM_000088.4(COL1A1):c.623del (p.Pro208fs)
NM_000089.4(COL1A2):c.4060C>T (p.Gln1354Ter)
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000123.4(ERCC5):c.2705dup (p.Asn902fs) rs759551120
NM_000135.4(FANCA):c.2853_2856del rs2143225807
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter) rs776943352
NM_000163.5(GHR):c.476T>A (p.Leu159Ter) rs961681338
NM_000163.5(GHR):c.875+5G>A rs2111832452
NM_000199.5(SGSH):c.215C>G (p.Pro72Arg)
NM_000206.3(IL2RG):c.326_340del (p.Glu109_Ser113del)
NM_000216.4(ANOS1):c.1767G>A (p.Trp589Ter) rs1929577517
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) rs777670507
NM_000278.5(PAX2):c.226G>C (p.Gly76Arg) rs79555199
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000293.3(PHKB):c.1972-2A>G rs964263812
NM_000341.4(SLC3A1):c.1332+2T>C rs758627758
NM_000368.5(TSC1):c.2103_2106del (p.Gln701fs) rs118203638
NM_000368.5(TSC1):c.2225del (p.Leu742fs) rs2131741069
NM_000426.4(LAMA2):c.5820del (p.Val1941fs) rs2114697790
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del) rs121912681
NM_000494.4(COL17A1):c.2435_2440del (p.Glu812_Ser814delinsAla) rs2134590604
NM_000508.5(FGA):c.1906dup (p.Leu636fs)
NM_000516.7(GNAS):c.140G>A (p.Gly47Asp)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000533.5(PLP1):c.548C>A (p.Thr183Asn) rs2147766068
NM_000612.6(IGF2):c.106G>T (p.Glu36Ter)
NM_000702.4(ATP1A2):c.2552A>G (p.Tyr851Cys)
NM_000718.4(CACNA1B):c.5647C>T (p.Gln1883Ter) rs2131366543
NM_000738.3(CHRM1):c.1274T>C (p.Phe425Ser) rs2135039016
NM_000814.6(GABRB3):c.916A>G (p.Ile306Val) rs1889965563
NM_000829.4(GRIA4):c.341A>G (p.His114Arg)
NM_000834.5(GRIN2B):c.1126-1G>T
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.2555del (p.Gly852fs) rs2136409494
NM_000834.5(GRIN2B):c.2825del (p.Thr942fs) rs2136406056
NM_000944.5(PPP3CA):c.1366G>T (p.Glu456Ter) rs1726803653
NM_000969.5(RPL5):c.110_111dup (p.Ile38Ter) rs2100676956
NM_001004320.2(AGMO):c.957_957+18del rs756729494
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001009944.3(PKD1):c.5977_5979del (p.Thr1993del) rs2151790460
NM_001010942.3(RAP1B):c.176C>G (p.Ala59Gly) rs2135963070
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter) rs531943246
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032382.2(PQBP1):c.181G>A (p.Gly61Arg) rs2147471872
NM_001039141.3(TRIOBP):c.4881_4882del (p.His1627fs) rs2145843020
NM_001039374.5(CCDC183):c.886C>T (p.Gln296Ter)
NM_001039591.3(USP9X):c.1986-1G>T rs2147113534
NM_001039591.3(USP9X):c.4726T>A (p.Tyr1576Asn) rs2147201709
NM_001039886.4(ZNF808):c.1448dup (p.Tyr483Ter)
NM_001040142.2(SCN2A):c.3711del (p.Ile1238fs) rs2105365149
NM_001040142.2(SCN2A):c.644C>A (p.Ala215Glu) rs149024364
NM_001042492.3(NF1):c.2121del (p.Met707fs)
NM_001042492.3(NF1):c.2525G>T (p.Gly842Val)
NM_001046.3(SLC12A2):c.1059T>G (p.Tyr353Ter) rs2126697261
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001079668.3(NKX2-1):c.634_639del (p.Gln212_Gln213del)
NM_001079802.2(FKTN):c.378G>A (p.Trp126Ter) rs2132790782
NM_001079802.2(FKTN):c.867_870del (p.Lys290fs)
NM_001080453.3(INTS1):c.544G>T (p.Glu182Ter) rs2128544907
NM_001080517.3(SETD5):c.4107_4110dup (p.Ser1371fs) rs1553641753
NM_001081.4(CUBN):c.5548del (p.Ile1850fs) rs2131606542
NM_001082971.2(DDC):c.1055del (p.Pro352fs) rs2042497215
NM_001089.3(ABCA3):c.614-2A>G rs773223403
NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn) rs1569508922
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001110556.2(FLNA):c.514C>T (p.Leu172Phe) rs2148119399
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp) rs2074117985
NM_001114753.3(ENG):c.219+5G>C rs1554812252
NM_001122764.3(PPOX):c.571G>T (p.Glu191Ter)
NM_001128840.3(CACNA1D):c.1201G>C (p.Val401Leu)
NM_001128840.3(CACNA1D):c.1955C>T (p.Ser652Leu) rs777591848
NM_001130438.3(SPTAN1):c.5832+1G>C rs2131851851
NM_001134831.2(AHI1):c.316_319del (p.Leu106fs)
NM_001145358.2(SIN3A):c.3179A>G (p.Asp1060Gly) rs2141396034
NM_001145809.2(MYH14):c.4609del (p.Arg1537fs)
NM_001148.6(ANK2):c.1417C>T (p.Arg473Ter)
NM_001164508.2(NEB):c.23133_23144delinsG (p.Tyr7712fs) rs2153276539
NM_001164508.2(NEB):c.24004C>T (p.Gln8002Ter) rs2153072192
NM_001165963.4(SCN1A):c.4073G>A (p.Trp1358Ter) rs121917961
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg) rs1602544454
NM_001172509.2(SATB2):c.382del (p.Leu128fs) rs2105867988
NM_001190274.2(FBXO11):c.1340G>C (p.Arg447Thr) rs2104807871
NM_001190274.2(FBXO11):c.1523A>G (p.His508Arg) rs2104739052
NM_001190737.2(NFIB):c.389_399del (p.Leu130fs)
NM_001197104.2(KMT2A):c.3472T>C (p.Cys1158Arg) rs2134287093
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter) rs200497972
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_001200016.2(NAA80):c.323T>C (p.Leu108Pro) rs2109291659
NM_001202.6(BMP4):c.666del (p.Arg223fs) rs2140235147
NM_001206641.3(COA6):c.212+163G>A rs947861426
NM_001206641.3(COA6):c.274del (p.Arg92fs) rs2103015324
NM_001242896.3(DEPDC5):c.434G>A (p.Trp145Ter) rs1060501488
NM_001256071.3(RNF213):c.12028C>G (p.Leu4010Val)
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter) rs782074040
NM_001267550.2(TTN):c.59127del (p.Ser19710fs) rs2050559188
NM_001267550.2(TTN):c.69923_69926dup (p.Lys23309delinsAsnTer) rs2154172827
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001282531.3(ADNP):c.2712dup (p.Asn905Ter) rs2122740067
NM_001320.7(CSNK2B):c.494A>G (p.His165Arg) rs1802026476
NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn) rs1938178701
NM_001330260.2(SCN8A):c.4911T>G (p.Ile1637Met) rs2138942487
NM_001330723.2(SNX27):c.782dup (p.Leu262fs) rs2102681464
NM_001330723.2(SNX27):c.989G>A (p.Arg330His) rs1670312400
NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg) rs2053152079
NM_001347721.2(DYRK1A):c.343G>T (p.Gly115Ter) rs1555980252
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter) rs781748056
NM_001349206.2(LPIN1):c.824delinsAAA (p.Ser275Ter) rs2148644309
NM_001349338.3(FOXP1):c.1429-1G>T
NM_001352913.2(PPP2R5C):c.563A>G (p.His188Arg) rs2140894443
NM_001354930.2(RIPK1):c.1458_1459del (p.Arg487fs) rs2113695996
NM_001356.5(DDX3X):c.234_235del (p.Gly80fs) rs2147348755
NM_001363711.2(DUOX2):c.3423_3424del (p.His1141fs) rs1009807148
NM_001365276.2(TNXB):c.4645C>T (p.Gln1549Ter) rs2151921014
NM_001365902.3(NFIX):c.1252C>T (p.Gln418Ter) rs2145476583
NM_001365999.1(SZT2):c.5025-2A>G rs1557569831
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001368882.1(COL13A1):c.462+2T>C rs1589245442
NM_001368894.2(PAX6):c.683G>C (p.Arg228Thr) rs2134657107
NM_001369268.1(ACAN):c.1733-1G>C
NM_001369369.1(FOXN1):c.1247del (p.Pro416fs) rs1567886959
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001371928.1(AHDC1):c.1705_1708dup (p.Glu570fs) rs2148284522
NM_001371928.1(AHDC1):c.877G>T (p.Glu293Ter) rs2148291547
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.6328G>T (p.Glu2110Ter) rs1554237778
NM_001375380.1(EBF3):c.971_978dup (p.Thr327delinsSerLysTer) rs2134076706
NM_001375524.1(TRRAP):c.5722G>A (p.Val1908Ile)
NM_001376.5(DYNC1H1):c.2161G>A (p.Glu721Lys) rs2141274951
NM_001377275.1(PER3):c.1998dup (p.Met667fs) rs2151127625
NM_001378454.1(ALMS1):c.10570_10571del (p.Glu3524fs) rs2104104246
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) rs606231461
NM_001379110.1(SLC9A6):c.1662-19_1662-3del rs1569525894
NM_001379270.1(CNGA1):c.349G>T (p.Glu117Ter) rs539600817
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001379291.1(BRD4):c.1289A>G (p.Tyr430Cys)
NM_001379403.1(WDR26):c.1163-1G>A rs2102912948
NM_001384732.1(CPLANE1):c.7555del (p.Ser2519fs) rs1777663813
NM_001388303.1(HECTD4):c.6367C>T (p.Gln2123Ter)
NM_001389.5(DSCAM):c.4216G>A (p.Gly1406Ser) rs2146568828
NM_001395426.1(PDE4DIP):c.4630A>G (p.Ile1544Val) rs148523430
NM_001407.3(CELSR3):c.1574G>A (p.Arg525His)
NM_001407.3(CELSR3):c.3712C>T (p.Arg1238Cys)
NM_001407.3(CELSR3):c.5059C>T (p.His1687Tyr)
NM_001407.3(CELSR3):c.6304G>A (p.Ala2102Thr)
NM_001407.3(CELSR3):c.6959T>C (p.Val2320Ala)
NM_001407.3(CELSR3):c.7075C>T (p.Pro2359Ser)
NM_001407.3(CELSR3):c.7423C>T (p.Arg2475Trp)
NM_001407.3(CELSR3):c.7501G>A (p.Glu2501Lys)
NM_001407.3(CELSR3):c.7999G>A (p.Gly2667Ser)
NM_001407.3(CELSR3):c.8480C>A (p.Thr2827Asn)
NM_001407.3(CELSR3):c.9299G>C (p.Gly3100Ala)
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001451.3(FOXF1):c.191C>T (p.Ser64Leu)
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser) rs80356504
NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)
NM_001519.4(BRF1):c.875C>G (p.Pro292Arg) rs606231450
NM_001609.4(ACADSB):c.746del (p.Pro249fs) rs779015128
NM_001611.5(ACP5):c.772A>C (p.Ser258Arg)
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) rs281875325
NM_001694.4(ATP6V0C):c.424G>T (p.Gly142Cys)
NM_001791.4(CDC42):c.509A>G (p.Asp170Gly) rs2124053783
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) rs1558939623
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser) rs1215825701
NM_001844.5(COL2A1):c.2951G>A (p.Gly984Asp)
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661
NM_001852.4(COL9A2):c.1692_1717del (p.Gly565fs) rs2124040438
NM_001852.4(COL9A2):c.811_821del (p.Gly271fs) rs2124082390
NM_001854.4(COL11A1):c.3655-1G>C rs2101074856
NM_001904.4(CTNNB1):c.703G>A (p.Gly235Arg) rs2125623412
NM_002024.6(FMR1):c.866C>T (p.Pro289Leu) rs2124521655
NM_002063.4(GLRA2):c.140T>C (p.Phe47Ser) rs2146999184
NM_002063.4(GLRA2):c.777C>G (p.Ile259Met) rs2147096455
NM_002063.4(GLRA2):c.862G>A (p.Ala288Thr) rs2090371373
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) rs1057519742
NM_002240.5(KCNJ6):c.460G>A (p.Gly154Ser) rs786204795
NM_002576.5(PAK1):c.1427T>C (p.Ile476Thr) rs1591695781
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser) rs2113894766
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_002972.4(SBF1):c.2958C>A (p.Cys986Ter) rs2148587700
NM_003042.4(SLC6A1):c.593A>C (p.His198Pro)
NM_003126.4(SPTA1):c.7132C>T (p.Gln2378Ter) rs1064795113
NM_003172.4(SURF1):c.614G>A (p.Gly205Glu)
NM_003193.5(TBCE):c.636_639del (p.Asn212fs) rs1226347591
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys) rs950721550
NM_003560.4(PLA2G6):c.437dup (p.Cys146fs) rs1216972369
NM_003748.4(ALDH4A1):c.641del (p.Ala214fs) rs1429118574
NM_003793.4(CTSF):c.1272C>A (p.Cys424Ter) rs2134949827
NM_003907.3(EIF2B5):c.862C>G (p.His288Asp) rs2109008895
NM_003922.4(HERC1):c.9920C>G (p.Ser3307Ter) rs2152910468
NM_004006.3(DMD):c.9808-2A>G rs1602456486
NM_004183.4(BEST1):c.1100+1G>C rs1434513582
NM_004247.4(EFTUD2):c.45del (p.Glu16fs) rs2145581806
NM_004260.4(RECQL4):c.1093del (p.Arg365fs) rs2130716088
NM_004380.3(CREBBP):c.5367C>G (p.Asn1789Lys) rs2151311363
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs) rs1596784713
NM_004380.3(CREBBP):c.6123del (p.Met2042fs)
NM_004423.4(DVL3):c.1760_1763del (p.Lys587fs) rs2109023897
NM_004438.5(EPHA4):c.1655_1656del (p.Ser552fs)
NM_004474.4(FOXD2):c.628A>G (p.Met210Val) rs1018532168
NM_004493.3(HSD17B10):c.628C>G (p.Pro210Ala)
NM_004544.4(NDUFA10):c.76-2A>G rs917371150
NM_004586.3(RPS6KA3):c.298A>T (p.Lys100Ter) rs2148721855
NM_004586.3(RPS6KA3):c.846-2A>G rs2148665223
NM_004606.5(TAF1):c.4276A>G (p.Met1426Val) rs2148488085
NM_004713.6(NEMF):c.807-2A>C rs1892669150
NM_004780.3(TCEAL1):c.169del (p.Leu57fs) rs2147641837
NM_004780.3(TCEAL1):c.259C>T (p.Gln87Ter) rs2147641920
NM_004780.3(TCEAL1):c.269G>A (p.Cys90Tyr) rs2147641927
NM_004780.3(TCEAL1):c.299_302del (p.Gly100fs) rs2147641982
NM_004780.3(TCEAL1):c.447G>A (p.Trp149Ter) rs2147642131
NM_004859.4(CLTC):c.4481del (p.Ser1494fs) rs2143600670
NM_004972.4(JAK2):c.226+1G>T
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys) rs1172486173
NM_005120.3(MED12):c.1379T>C (p.Leu460Ser) rs2147785143
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) rs2147805923
NM_005120.3(MED12):c.4516C>G (p.Gln1506Glu)
NM_005198.5(CHKB):c.467_468del (p.Gln156fs) rs2146656223
NM_005378.6(MYCN):c.179C>T (p.Pro60Leu)
NM_005445.4(SMC3):c.2002TAT[1] (p.Tyr669del) rs2134745289
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg) rs2149941608
NM_005654.6(NR2F1):c.424C>G (p.Arg142Gly)
NM_005732.4(RAD50):c.2944A>T (p.Lys982Ter) rs1581004859
NM_005742.4(PDIA6):c.702del (p.Arg235fs)
NM_005859.5(PURA):c.221A>G (p.Tyr74Cys) rs2126748837
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter) rs1763053854
NM_005862.3(STAG1):c.1117C>T (p.Arg373Ter) rs2107814279
NM_005881.4(BCKDK):c.879C>A (p.Tyr293Ter) rs989757942
NM_005921.2(MAP3K1):c.556A>G (p.Arg186Gly) rs1579750361
NM_005957.5(MTHFR):c.1596del (p.Lys531_Tyr532insTer) rs2100506903
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) rs752461187
NM_006031.6(PCNT):c.2813_2814del (p.Gln938fs) rs2146922620
NM_006031.6(PCNT):c.5881del (p.Val1961fs) rs2147678255
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006086.4(TUBB3):c.817C>G (p.Leu273Val)
NM_006161.3(NEUROG1):c.228_231dup (p.Thr78fs) rs2126852672
NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly) rs2108424902
NM_006218.4(PIK3CA):c.3143A>G (p.His1048Arg) rs1553826184
NM_006265.3(RAD21):c.628G>T (p.Glu210Ter) rs2130469189
NM_006494.4(ERF):c.157G>A (p.Gly53Arg) rs2036425566
NM_006502.3(POLH):c.638C>G (p.Ser213Ter) rs763654639
NM_006593.4(TBR1):c.1237G>C (p.Asp413His)
NM_006766.5(KAT6A):c.3353-1G>A rs1351334408
NM_006828.4(ASCC3):c.801+1G>T rs1432792609
NM_006852.6(TLK2):c.754C>T (p.Gln252Ter) rs2146338937
NM_006908.5(RAC1):c.218C>T (p.Pro73Leu) rs2115201441
NM_007059.4(KPTN):c.184dup (p.Ile62fs) rs1243527780
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs) rs752676391
NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu) rs1564365418
NM_007357.3(COG2):c.48C>A (p.Cys16Ter) rs2102736333
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007374.3(SIX6):c.380del (p.Asp127fs) rs1310548000
NM_012140.5(SLC25A10):c.762+1G>A
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012309.5(SHANK2):c.4985_4986del (p.Pro1662fs) rs2135665193
NM_012330.4(KAT6B):c.2658_2659del (p.Gln886fs)
NM_012330.4(KAT6B):c.4054del (p.Glu1352fs) rs2134236431
NM_013275.6(ANKRD11):c.5303_5313del (p.Ser1768fs) rs2151745140
NM_013275.6(ANKRD11):c.5469dup (p.Pro1824fs)
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_013352.4(DSE):c.2538_2541del (p.Lys846fs) rs1784207138
NM_014141.6(CNTNAP2):c.686_688del (p.Glu229del) rs2129279561
NM_014149.4(WDR91):c.511+1A>G
NM_014159.7(SETD2):c.5152G>A (p.Glu1718Lys)
NM_014225.6(PPP2R1A):c.539T>G (p.Met180Arg) rs1600167941
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro) rs2089686081
NM_014271.4(IL1RAPL1):c.1046T>C (p.Leu349Pro) rs2147239911
NM_014334.4(FRRS1L):c.552_561del (p.Ile185fs)
NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter) rs1364971527
NM_014362.4(HIBCH):c.458A>G (p.His153Arg)
NM_014444.5(TUBGCP4):c.223C>T (p.Gln75Ter) rs2142767103
NM_014671.3(UBE3C):c.1999del (p.Asp667fs)
NM_014704.4(CEP104):c.1879G>T (p.Glu627Ter) rs750473230
NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter) rs2141540660
NM_014714.4(IFT140):c.4323dup (p.Asn1442fs) rs2141088947
NM_014727.3(KMT2B):c.7884del (p.Tyr2629fs)
NM_014795.4(ZEB2):c.1001G>C (p.Cys334Ser)
NM_014795.4(ZEB2):c.73+2T>G rs398124282
NM_014795.4(ZEB2):c.982C>T (p.His328Tyr) rs2149877525
NM_014845.6(FIG4):c.863G>A (p.Gly288Asp)
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015176.4(FBXO28):c.1043G>T (p.Arg348Leu) rs1553292987
NM_015178.3(RHOBTB2):c.268C>T (p.His90Tyr)
NM_015202.5(KATNIP):c.27dup (p.Glu10fs) rs1283389193
NM_015261.3(NCAPD3):c.3058C>T (p.Arg1020Ter)
NM_015294.6(TRIM37):c.1948+2T>C rs2145613542
NM_015335.5(MED13L):c.6583C>T (p.His2195Tyr) rs2137182061
NM_015335.5(MED13L):c.746dup (p.Lys250fs) rs1566014158
NM_015426.5(POC1A):c.893G>A (p.Trp298Ter) rs2107090748
NM_015443.4(KANSL1):c.2284C>T (p.Arg762Ter) rs2146363405
NM_015450.3(POT1):c.347C>T (p.Pro116Leu) rs1554426966
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015909.4(NBAS):c.6966_6969delinsTC (p.Gln2322fs)
NM_016120.4(RLIM):c.366G>C (p.Trp122Cys) rs866839831
NM_016219.5(MAN1B1):c.1736delinsCG (p.Gln579fs) rs2131131580
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu) rs751619487
NM_016284.5(CNOT1):c.608T>C (p.Ile203Thr) rs2151984285
NM_016302.4(CRBN):c.124A>T (p.Lys42Ter) rs2126069389
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter) rs587777127
NM_016604.4(KDM3B):c.4627G>A (p.Ala1543Thr) rs2127002980
NM_017541.4(CRYGS):c.23T>A (p.Ile8Asn) rs2108743641
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017635.5(KMT5B):c.1175-6_1183del rs2153041094
NM_017635.5(KMT5B):c.1569_1570del (p.Gly524fs) rs2153040709
NM_017649.5(CNNM2):c.1804C>T (p.Arg602Ter) rs2134338484
NM_017654.4(SAMD9):c.2195T>G (p.Ile732Ser)
NM_017934.7(PHIP):c.1137-7_1140del rs2127741611
NM_017934.7(PHIP):c.428dup (p.Pro144fs)
NM_017952.6(PTCD3):c.710del (p.Thr237fs) rs1674335308
NM_018116.4(MSTO1):c.65C>A (p.Ala22Glu)
NM_018684.4(ZC4H2):c.561+1G>A
NM_019026.6(TMCO1):c.493_494del (p.Ala165fs) rs1558027212
NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs) rs1461665171
NM_019032.6(ADAMTSL4):c.2688del (p.Pro898fs)
NM_019051.3(MRPL50):c.335T>A (p.Val112Asp)
NM_019059.5(TOMM7):c.73T>C (p.Trp25Arg)
NM_020247.5(COQ8A):c.1383_1384insTTTGG (p.Glu462fs) rs1659926175
NM_020451.3(SELENON):c.538-1G>A rs2047928865
NM_020751.3(COG6):c.181del (p.Ser61fs) rs2137941877
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_021078.3(KAT2A):c.2032_2055del (p.Leu678_Gln685del)
NM_021120.4(DLG3):c.1520+1G>T rs2147842365
NM_021830.5(TWNK):c.1000C>T (p.Arg334Ter) rs776533804
NM_021926.4(ALX4):c.1017del (p.Gly340fs) rs1403155983
NM_022041.4(GAN):c.1502+1G>T rs1555511978
NM_022157.4(RRAGC):c.343T>C (p.Trp115Arg)
NM_022455.5(NSD1):c.4759_4765+2del rs2149904640
NM_022455.5(NSD1):c.5623-2A>C rs2127256836
NM_022455.5(NSD1):c.5629C>T (p.Arg1877Cys)
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_022455.5(NSD1):c.7638del (p.Leu2548fs) rs2127283800
NM_022552.5(DNMT3A):c.1490G>T (p.Cys497Phe) rs779323387
NM_022552.5(DNMT3A):c.1585G>A (p.Asp529Asn)
NM_022575.4(VPS16):c.2272-18C>A
NM_022841.7(RFX7):c.3082C>T (p.Pro1028Ser)
NM_024063.3(AFG2B):c.1676del (p.Ala559fs) rs767220705
NM_024063.3(AFG2B):c.1682T>C (p.Leu561Ser) rs2140721648
NM_024063.3(AFG2B):c.85T>G (p.Cys29Gly) rs2140692680
NM_024306.5(FA2H):c.364-1G>A rs2144617577
NM_024408.4(NOTCH2):c.6450del (p.Val2151fs) rs2101144082
NM_024665.7(TBL1XR1):c.1043A>G (p.His348Arg) rs1576994053
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs) rs768112611
NM_025077.4(TOE1):c.1172del (p.Asn391fs) rs777525101
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025137.4(SPG11):c.6478-2A>C rs2082374687
NM_025233.7(COASY):c.161_171del (p.Gln54fs) rs1408589058
NM_030630.3(HID1):c.1149+1G>T rs2144810359
NM_031229.4(RBCK1):c.745C>T (p.Gln249Ter) rs2016260522
NM_031310.3(PLVAP):c.670_676del (p.Leu224fs)
NM_031418.4(ANO3):c.1699G>A (p.Gly567Arg) rs2132929609
NM_031844.3(HNRNPU):c.1930G>T (p.Glu644Ter)
NM_032108.4(SEMA6B):c.1966G>T (p.Glu656Ter) rs747115338
NM_032271.3(TRAF7):c.1873C>G (p.Leu625Val) rs2141298772
NM_032620.4(GTPBP3):c.413C>T (p.Ala138Val)
NM_032620.4(GTPBP3):c.509_510del (p.Glu170fs)
NM_032620.4(GTPBP3):c.628G>A (p.Glu210Lys)
NM_033163.5(FGF8):c.617G>A (p.Arg206Gln) rs876661331
NM_033343.4(LHX4):c.171T>G (p.Cys57Trp) rs2149256470
NM_033380.3(COL4A5):c.1032+3_1032+6del rs104886314
NM_033380.3(COL4A5):c.3087_3093del (p.Gly1030fs) rs2147872291
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter) rs541633673
NM_052867.4(NALCN):c.1959dup (p.Thr654fs) rs2139795638
NM_053025.4(MYLK):c.472del (p.Glu158fs) rs770373926
NM_053274.3(GLMN):c.971dup (p.Leu324fs) rs2100916637
NM_057175.5(NAA15):c.1410+1del rs2110955293
NM_057175.5(NAA15):c.1798_1801del (p.Arg600fs) rs2110977312
NM_080704.4(TRPV1):c.993C>G (p.Asn331Lys)
NM_130797.4(DPP6):c.157_184del (p.Pro53fs) rs2129062565
NM_130839.5(UBE3A):c.732_735del (p.Ser245fs) rs2152822637
NM_138615.3(DHX30):c.2929+2T>C
NM_138961.3(ESAM):c.115del (p.Arg39fs)
NM_138961.3(ESAM):c.287del (p.Pro96fs)
NM_138961.3(ESAM):c.35T>A (p.Leu12Ter)
NM_138961.3(ESAM):c.451+1G>A
NM_139058.3(ARX):c.30C>A (p.Cys10Ter) rs794726959
NM_139343.3(BIN1):c.1372-1G>A rs1682909859
NM_144687.4(NLRP12):c.1113_1116del (p.Lys371fs) rs1599842537
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_153332.4(ERI1):c.401A>G (p.Asp134Gly)
NM_153332.4(ERI1):c.895T>C (p.Ser299Pro)
NM_172107.4(KCNQ2):c.695T>C (p.Leu232Pro) rs2145736778
NM_172107.4(KCNQ2):c.757G>C (p.Ala253Pro)
NM_172232.4(ABCA5):c.2167_2168del (p.Leu723fs) rs2144972355
NM_172362.3(KCNH1):c.1481T>C (p.Ile494Thr) rs2102406873
NM_173076.3(ABCA12):c.667C>T (p.Gln223Ter) rs2106054066
NM_173630.4(RTTN):c.4375-3963_4564+444del
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_181523.3(PIK3R1):c.1723_1731del (p.Lys575_Arg577del) rs2112276825
NM_182931.3(KMT2E):c.1130+2T>C rs1554394210
NM_182931.3(KMT2E):c.1688C>G (p.Ser563Ter) rs2129568923
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182931.3(KMT2E):c.2261del (p.Leu753_Ser754insTer) rs1584802161
NM_182931.3(KMT2E):c.2602_2605del (p.Thr868fs) rs1584803713
NM_182931.3(KMT2E):c.2620C>T (p.Arg874Ter) rs1584803745
NM_182931.3(KMT2E):c.2720A>T (p.Asp907Val) rs1584803942
NM_182931.3(KMT2E):c.2936del (p.Leu979fs) rs1584805072
NM_182931.3(KMT2E):c.3070C>T (p.Gln1024Ter) rs1562931936
NM_182931.3(KMT2E):c.3494_3495del (p.Arg1165fs) rs1584807827
NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter) rs186916831
NM_182931.3(KMT2E):c.3672_3673del (p.Tyr1224_Asn1225delinsTer) rs1584808269
NM_182931.3(KMT2E):c.4397_4398insCACAGCATGGTTATCTTTC (p.Pro1467fs) rs1584817521
NM_182931.3(KMT2E):c.4872del (p.Ala1624_Val1625insTer) rs1584819461
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs) rs794727577
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_194318.4(B3GLCT):c.1177G>C (p.Gly393Arg) rs776180719
NM_198514.4(NHLRC2):c.278_279del (p.Cys93fs) rs747117082
NM_198859.4(PRICKLE2):c.122C>T (p.Pro41Leu) rs2078512215
NM_198859.4(PRICKLE2):c.1286_1287del (p.Ser429fs) rs2107015478
NM_198859.4(PRICKLE2):c.680C>G (p.Thr227Arg) rs750828226
NM_198947.4(FAM111B):c.1462del (p.Cys488fs) rs1565191262
NM_212482.4(FN1):c.6281C>T (p.Pro2094Leu) rs2106250495
Single allele

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