ClinVar Miner

List of variants reported by Yale Center for Mendelian Genomics, Yale University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 865
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001407.3(CELSR3):c.2414G>C (p.Ser805Thr) rs3821875 0.11633
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_016292.3(TRAP1):c.1406G>A (p.Arg469His) rs144787542 0.00740
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr) rs139512218 0.00510
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_021913.5(AXL):c.1549G>A (p.Gly517Ser) rs35538872 0.00419
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342 0.00415
NM_004075.5(CRY1):c.1657+3A>C rs184039278 0.00373
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys) rs119486097 0.00351
NM_002461.3(MVD):c.70+5G>A rs200035262 0.00306
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897 0.00298
NM_005215.4(DCC):c.1409G>A (p.Gly470Asp) rs141813053 0.00296
NM_001039362.2(ATP6V1C2):c.503T>C (p.Ile168Thr) rs150980575 0.00274
NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu) rs137900287 0.00268
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_001040694.2(INCENP):c.2415G>C (p.Gln805His) rs61893682 0.00255
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) rs139295139 0.00254
NM_002253.4(KDR):c.2312C>T (p.Thr771Met) rs149745504 0.00198
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_018384.5(GIMAP5):c.611T>C (p.Leu204Pro) rs72650695 0.00189
NM_001366057.1(OTUD4):c.2993C>G (p.Pro998Arg) rs4561948 0.00163
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_181712.5(KANK4):c.2401T>C (p.Tyr801His) rs145623004 0.00133
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu) rs199583130 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707 0.00062
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His) rs61978626 0.00058
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_032551.5(KISS1R):c.890G>T (p.Arg297Leu) rs144670595 0.00046
NM_001407.3(CELSR3):c.7853C>T (p.Ala2618Val) rs138657991 0.00039
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg) rs199771303 0.00037
NM_006576.4(AVIL):c.404G>A (p.Arg135Gln) rs138047529 0.00034
NM_005215.4(DCC):c.2455G>A (p.Asp819Asn) rs181197485 0.00033
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997 0.00033
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327 0.00028
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542 0.00022
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln) rs139861201 0.00021
NM_182920.2(ADAMTS9):c.194C>G (p.Thr65Arg) rs192420947 0.00021
NM_006556.4(PMVK):c.329G>A (p.Arg110Gln) rs140728783 0.00020
NM_002386.4(MC1R):c.512C>G (p.Ala171Gly) rs373224783 0.00019
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) rs149563712 0.00019
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_006901.4(MYO9A):c.467A>G (p.Asp156Gly) rs190194477 0.00018
NM_006901.4(MYO9A):c.5110C>T (p.Pro1704Ser) rs141313736 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_001272046.2(VWA2):c.1336C>T (p.Arg446Cys) rs148731211 0.00016
NM_006556.4(PMVK):c.79G>T (p.Glu27Ter) rs373000976 0.00016
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) rs139407102 0.00016
NM_005245.4(FAT1):c.5671C>A (p.Pro1891Thr) rs185078412 0.00015
NM_003106.4(SOX2):c.64G>A (p.Gly22Ser) rs727504169 0.00014
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779 0.00014
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_001378457.1(DMXL2):c.1427C>G (p.Thr476Ser) rs757537450 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_014669.5(NUP93):c.575A>G (p.Tyr192Cys) rs201924382 0.00013
NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs) rs765970053 0.00013
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_006901.4(MYO9A):c.2295G>C (p.Glu765Asp) rs147776325 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_032756.4(HPDL):c.859T>C (p.Tyr287His) rs777360560 0.00010
NM_033380.3(COL4A5):c.899C>T (p.Pro300Leu) rs375377003 0.00010
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) rs140772904 0.00009
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu) rs141944551 0.00009
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608 0.00009
NM_001024613.4(FEZF1):c.1343A>C (p.Gln448Pro) rs561681709 0.00009
NM_001079675.5(ETV4):c.1244G>A (p.Arg415His) rs373515634 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_004787.4(SLIT2):c.1697G>A (p.Ser566Asn) rs200151302 0.00009
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser) rs145249878 0.00009
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205 0.00009
NM_017780.4(CHD7):c.2182G>C (p.Asp728His) rs756365280 0.00009
NM_181426.2(CCDC39):c.610-2A>G rs756235547 0.00009
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala) rs542768500 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_177400.3(NKX6-2):c.541C>G (p.Leu181Val) rs369901030 0.00008
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val) rs775563545 0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_004795.4(KL):c.2251A>G (p.Arg751Gly) rs373177691 0.00007
NM_207361.6(FREM2):c.3661C>T (p.Pro1221Ser) rs143192660 0.00007
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386 0.00006
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter) rs752269093 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001378457.1(DMXL2):c.1687A>G (p.Met563Val) rs772129232 0.00006
NM_005560.6(LAMA5):c.2239C>T (p.Arg747Trp) rs370940497 0.00006
NM_018082.6(POLR3B):c.2932C>T (p.Arg978Cys) rs747972980 0.00006
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu) rs376000406 0.00005
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_025074.7(FRAS1):c.3998T>C (p.Val1333Ala) rs773232259 0.00005
NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro) rs145372387 0.00005
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter) rs754944359 0.00004
NM_001146079.2(CLDN14):c.427G>A (p.Val143Met) rs776564488 0.00004
NM_001166114.2(PNPLA6):c.3955G>A (p.Gly1319Arg) rs140568070 0.00004
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter) rs374894037 0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00004
NM_003052.5(SLC34A1):c.644+1G>A rs201304511 0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_004722.4(AP4M1):c.680G>A (p.Arg227His) rs371712994 0.00004
NM_005245.4(FAT1):c.857A>G (p.Asn286Ser) rs201488687 0.00004
NM_005560.6(LAMA5):c.8842G>A (p.Gly2948Ser) rs529211517 0.00004
NM_006576.4(AVIL):c.1964dup (p.Phe656fs) rs753128516 0.00004
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) rs763615602 0.00004
NM_001059.3(TACR3):c.743A>G (p.His248Arg) rs1374236686 0.00003
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter) rs777248758 0.00003
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs) rs754698253 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro) rs781053760 0.00003
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His) rs752185665 0.00003
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) rs761053549 0.00003
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile) rs201331677 0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter) rs369459721 0.00003
NM_015891.3(CDC40):c.1505T>G (p.Phe502Cys) rs779945821 0.00003
NM_016166.3(PIAS1):c.317C>T (p.Ser106Leu) rs774456004 0.00003
NM_017752.3(TBC1D8B):c.1030C>T (p.Arg344Ter) rs749688361 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln) rs773173317 0.00003
NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter) rs781631629 0.00003
NM_032756.4(HPDL):c.3G>C (p.Met1Ile) rs777607274 0.00003
NM_032756.4(HPDL):c.847C>T (p.Pro283Ser) rs751574835 0.00003
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp) rs201173498 0.00003
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522 0.00002
NM_000687.4(AHCY):c.266C>T (p.Ala89Val) rs755222515 0.00002
NM_001083111.2(GNRH1):c.143T>G (p.Ile48Arg) rs201184458 0.00002
NM_001127496.3(SPRY4):c.206G>T (p.Gly69Val) rs751651003 0.00002
NM_001128126.3(AP4S1):c.139-2A>G rs758748011 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001142966.3(GREB1L):c.5651G>A (p.Arg1884His) rs1372640211 0.00002
NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter) rs142209254 0.00002
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131 0.00002
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter) rs767595964 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131 0.00002
NM_001374623.1(PNPLA1):c.514G>A (p.Asp172Asn) rs373148099 0.00002
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517 0.00002
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.3671C>T (p.Pro1224Leu) rs775810147 0.00002
NM_002292.4(LAMB2):c.395C>T (p.Ala132Val) rs766482429 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_007347.5(AP4E1):c.869+1G>A rs868844377 0.00002
NM_015156.4(RCOR1):c.446-3C>T rs754404879 0.00002
NM_016059.5(PPIL1):c.280+1G>A rs374639625 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_032130.3(FAM186B):c.506-2A>G rs549662742 0.00002
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) rs797044992 0.00002
NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser) rs145591298 0.00002
NM_182699.4(DDX53):c.24G>A (p.Trp8Ter) rs1176788381 0.00002
NM_198391.3(FLRT3):c.1202A>T (p.Gln401Leu) rs367908011 0.00002
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093 0.00001
NM_000064.4(C3):c.4534C>T (p.Arg1512Cys) rs1408701335 0.00001
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) rs370985865 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000204.5(CFI):c.1A>G (p.Met1Val) rs770655669 0.00001
NM_000216.4(ANOS1):c.1111G>A (p.Val371Ile) rs1490275516 0.00001
NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser) rs896545456 0.00001
NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln) rs1045177462 0.00001
NM_001039803.3(CDK20):c.610T>C (p.Phe204Leu) rs745561217 0.00001
NM_001080508.3(TBX18):c.1802A>G (p.Gln601Arg) rs748043014 0.00001
NM_001099922.3(ALG13):c.2272G>T (p.Val758Phe) rs1157517282 0.00001
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) rs138808921 0.00001
NM_001128126.3(AP4S1):c.17T>C (p.Leu6Pro) rs1335804396 0.00001
NM_001128126.3(AP4S1):c.294+1G>T rs886041127 0.00001
NM_001142966.3(GREB1L):c.2281G>C (p.Glu761Gln) rs1465443065 0.00001
NM_001142966.3(GREB1L):c.4843G>A (p.Val1615Ile) rs1409376788 0.00001
NM_001253852.3(AP4B1):c.1115-2A>G rs1210851910 0.00001
NM_001253852.3(AP4B1):c.114-2A>G rs879255396 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001253852.3(AP4B1):c.409A>G (p.Arg137Gly) rs1041267828 0.00001
NM_001271049.2(CFAP221):c.2318+1G>A rs759274091 0.00001
NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His) rs769424345 0.00001
NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly) rs764097811 0.00001
NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser) rs281875215 0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) rs760104757 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter) rs773711154 0.00001
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs) rs779506456 0.00001
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020 0.00001
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470 0.00001
NM_001369.3(DNAH5):c.8010+3A>G rs748171209 0.00001
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr) rs746501395 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter) rs560398270 0.00001
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs) rs1305797678 0.00001
NM_001371986.1(UNC80):c.520C>T (p.Arg174Ter) rs751913925 0.00001
NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr) rs1182312612 0.00001
NM_001374623.1(PNPLA1):c.335C>A (p.Ser112Tyr) rs369445146 0.00001
NM_001374623.1(PNPLA1):c.464C>T (p.Pro155Leu) rs766188849 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_001378189.1(CFAP57):c.1762C>T (p.Arg588Ter) rs369556067 0.00001
NM_001407.3(CELSR3):c.8765G>A (p.Arg2922His) rs780740673 0.00001
NM_001453.3(FOXC1):c.1090C>T (p.Pro364Ser) rs867806300 0.00001
NM_001453.3(FOXC1):c.176G>T (p.Gly59Val) rs1762519001 0.00001
NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs) rs782152033 0.00001
NM_001845.6(COL4A1):c.3704A>G (p.Lys1235Arg) rs781655700 0.00001
NM_001845.6(COL4A1):c.4717G>A (p.Gly1573Arg) rs759600848 0.00001
NM_002292.4(LAMB2):c.1731+1G>A rs755787013 0.00001
NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter) rs376983109 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) rs121909723 0.00001
NM_002968.3(SALL1):c.1666G>A (p.Gly556Ser) rs776856200 0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) rs142772770 0.00001
NM_003285.3(TNR):c.1189G>A (p.Ala397Thr) rs750577544 0.00001
NM_003285.3(TNR):c.3574C>T (p.Arg1192Trp) rs1571308125 0.00001
NM_003486.7(SLC7A5):c.1124C>T (p.Pro375Leu) rs757972971 0.00001
NM_004075.5(CRY1):c.825+1G>A rs780614131 0.00001
NM_004525.3(LRP2):c.2639+1G>A rs746752313 0.00001
NM_004525.3(LRP2):c.9575G>A (p.Arg3192Gln) rs753667280 0.00001
NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln) rs748747814 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter) rs1562912305 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys) rs387906838 0.00001
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter) rs780030221 0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
NM_004795.4(KL):c.2534T>G (p.Val845Gly) rs1167677876 0.00001
NM_004958.4(MTOR):c.5345A>G (p.His1782Arg) rs767448054 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_005215.4(DCC):c.2647G>A (p.Val883Ile) rs187939463 0.00001
NM_005245.4(FAT1):c.3008C>T (p.Ala1003Val) rs369363545 0.00001
NM_005245.4(FAT1):c.4517G>A (p.Arg1506His) rs570583897 0.00001
NM_005540.3(INPP5B):c.152C>T (p.Ala51Val) rs773387490 0.00001
NM_005807.6(PRG4):c.1910_1911del (p.Pro637fs) rs780281715 0.00001
NM_006576.4(AVIL):c.1273C>A (p.Leu425Met) rs763782471 0.00001
NM_006901.4(MYO9A):c.1166C>T (p.Thr389Met) rs745456369 0.00001
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_012233.3(RAB3GAP1):c.2840G>A (p.Arg947His) rs756956146 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014669.5(NUP93):c.2017C>T (p.Arg673Trp) rs1166462755 0.00001
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter) rs1774516234 0.00001
NM_016059.5(PPIL1):c.233A>G (p.Tyr78Cys) rs1774173253 0.00001
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala) rs553128312 0.00001
NM_016059.5(PPIL1):c.392G>A (p.Arg131Gln) rs765668519 0.00001
NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg) rs986702153 0.00001
NM_016580.4(PCDH12):c.1060del (p.Val354fs) rs1199523766 0.00001
NM_017950.4(CCDC40):c.1093G>T (p.Glu365Ter) rs1434356376 0.00001
NM_018082.6(POLR3B):c.2161A>T (p.Lys721Ter) rs374359855 0.00001
NM_018117.12(WDR11):c.16G>A (p.Val6Met) rs780739420 0.00001
NM_018384.5(GIMAP5):c.140T>C (p.Ile47Thr) rs1797607693 0.00001
NM_018384.5(GIMAP5):c.326C>T (p.Pro109Leu) rs927435790 0.00001
NM_018706.7(DHTKD1):c.886G>A (p.Val296Met) rs763791918 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_021828.5(HPSE2):c.457C>T (p.Arg153Ter) rs267606865 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu) rs1570660422 0.00001
NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His) rs541053205 0.00001
NM_030954.4(RNF170):c.396+3A>G rs1159600703 0.00001
NM_032120.4(RBM48):c.835A>G (p.Thr279Ala) rs372607453 0.00001
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp) rs1391712320 0.00001
NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr) rs1186696459 0.00001
NM_032756.4(HPDL):c.788C>T (p.Thr263Met) rs116004018 0.00001
NM_032756.4(HPDL):c.797T>C (p.Ile266Thr) rs769373772 0.00001
NM_032756.4(HPDL):c.835C>T (p.Gln279Ter) rs774014588 0.00001
NM_052867.4(NALCN):c.3022C>T (p.Arg1008Ter) rs766421214 0.00001
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) rs760532554 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_152672.6(SLC51A):c.556C>T (p.Gln186Ter) rs1388285232 0.00001
NM_175737.4(KLB):c.2723G>T (p.Gly908Val) rs1487572959 0.00001
NM_175737.4(KLB):c.505G>A (p.Ala169Thr) rs560220050 0.00001
NM_177400.3(NKX6-2):c.301C>A (p.Arg101Ser) rs1207105923 0.00001
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter) rs375839864 0.00001
NM_181426.2(CCDC39):c.1665+1G>A rs753580394 0.00001
NM_212482.4(FN1):c.7379T>C (p.Ile2460Thr) rs2053446114 0.00001
NM_213607.3(CCDC103):c.144-1G>A rs747091524 0.00001
NC_000005.9:g.154735732_155604899dup
NC_000005.9:g.155599390_155755985dup
NC_000005.9:g.170591818_170713790dup
NC_000005.9:g.170814836_171100000dup
NC_000005.9:g.172068277_172342131dup
NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro) rs180177161
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.863G>A (p.Trp288Ter) rs2106431706
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.2840_2841del (p.Cys947fs) rs1554084531
NM_000038.6(APC):c.4127_4128del (p.Tyr1376fs) rs1554085533
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser) rs763794604
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp) rs66883877
NM_000092.5(COL4A4):c.1697-1G>C rs1559569975
NM_000092.5(COL4A4):c.2383G>A (p.Gly795Arg) rs779584531
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.4503dup (p.Ala1502fs) rs2149743538
NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter) rs794728231
NM_000157.4(GBA1):c.526G>A (p.Asp176Asn) rs1553217946
NM_000169.3(GLA):c.504A>C (p.Lys168Asn) rs2147477422
NM_000179.3(MSH6):c.3822dup (p.Cys1275fs) rs1553333346
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr) rs1600184363
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs) rs1600181733
NM_000214.3(JAG1):c.2638T>C (p.Cys880Arg) rs756911979
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter) rs1555827789
NM_000214.3(JAG1):c.2956_2957dup (p.Leu986fs) rs2122595849
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000264.5(PTCH1):c.1503+3A>G rs878853846
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs) rs1588574984
NM_000264.5(PTCH1):c.456_457del (p.Met152fs) rs1588622713
NM_000276.4(OCRL):c.1567G>A (p.Asp523Asn) rs2124412861
NM_000276.4(OCRL):c.187_199+449del rs1556338810
NM_000278.5(PAX2):c.254G>T (p.Gly85Val) rs2133836347
NM_000278.5(PAX2):c.275C>T (p.Thr92Met) rs1845411121
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000290.4(PGAM2):c.637G>A (p.Gly213Arg) rs750422335
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr) rs1555466999
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) rs121912744
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg) rs104893840
NM_000420.3(KEL):c.604G>A (p.Gly202Ser) rs2116680039
NM_000420.3(KEL):c.961C>T (p.Gln321Ter) rs980885552
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) rs58852768
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.1333_1334del (p.Ala445fs) rs2147457839
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro) rs2147545592
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000503.6(EYA1):c.966+1G>C rs2128951565
NM_000540.3(RYR1):c.179A>G (p.Asp60Gly) rs1555762532
NM_000860.6(HPGD):c.310_311del (p.Leu104fs) rs587777719
NM_001012759.3(CTU2):c.1399C>T (p.Arg467Cys) rs139862860
NM_001029858.4(SLC35F1):c.878T>G (p.Met293Arg) rs1304499333
NM_001034853.2(RPGR):c.1059+1del rs2147238385
NM_001035235.4(SRA1):c.293_294del (p.Val98fs) rs1491190229
NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His) rs1575362239
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro) rs1702006258
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001042492.3(NF1):c.1260+5G>A rs1060500253
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro) rs878853900
NM_001077418.3(TMEM231):c.119T>G (p.Leu40Arg) rs1567441193
NM_001080508.3(TBX18):c.1010del (p.Gly337fs) rs869320679
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr) rs1064796372
NM_001099922.3(ALG13):c.2458-15_2486del rs770762084
NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val) rs2148407095
NM_001099922.3(ALG13):c.3013C>T (p.Pro1005Ser) rs1945385727
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001101.5(ACTB):c.331A>G (p.Asn111Asp) rs2128241389
NM_001101.5(ACTB):c.411G>T (p.Gln137His) rs1388870915
NM_001101.5(ACTB):c.436G>A (p.Gly146Ser) rs2128241304
NM_001101.5(ACTB):c.437G>C (p.Gly146Ala) rs2128241303
NM_001101.5(ACTB):c.439C>A (p.Arg147Ser) rs2128241302
NM_001126128.2(PROK2):c.181A>G (p.Met61Val) rs1282942039
NM_001127898.4(CLCN5):c.1938del (p.Phe646fs) rs2147605760
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter) rs387906970
NM_001128126.3(AP4S1):c.229G>T (p.Glu77Ter) rs568176223
NM_001128126.3(AP4S1):c.239_240insG (p.Ile80fs) rs2139067696
NM_001128126.3(AP4S1):c.49dup (p.Ser17fs) rs2139569112
NM_001128178.3(NPHP1):c.1636del (p.Ser546fs) rs754137355
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001130438.3(SPTAN1):c.3156-2A>G rs2131341713
NM_001142966.3(GREB1L):c.1490C>G (p.Ala497Gly) rs1598859662
NM_001142966.3(GREB1L):c.3197G>C (p.Arg1066Pro) rs766987038
NM_001142966.3(GREB1L):c.37C>T (p.Arg13Ter) rs777707946
NM_001142966.3(GREB1L):c.383G>A (p.Arg128His) rs1598751507
NM_001142966.3(GREB1L):c.4276G>A (p.Val1426Ile) rs2036991057
NM_001142966.3(GREB1L):c.4646T>C (p.Val1549Ala) rs1598947815
NM_001142966.3(GREB1L):c.4964T>C (p.Ile1655Thr) rs1598958721
NM_001142966.3(GREB1L):c.4991A>C (p.Tyr1664Ser) rs1598958773
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met) rs1555663997
NM_001142966.3(GREB1L):c.818G>T (p.Gly273Val) rs1598769185
NM_001146079.2(CLDN14):c.337G>C (p.Ala113Pro) rs138631461
NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly) rs2154577345
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001205293.3(CACNA1E):c.1042G>C (p.Gly348Arg) rs2102063243
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu) rs778291283
NM_001205293.3(CACNA1E):c.2069G>A (p.Gly690Asp) rs1361083258
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser) rs869312920
NM_001205293.3(CACNA1E):c.2098G>A (p.Ala700Thr) rs2102499747
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val) rs1558308998
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.4264A>T (p.Ile1422Phe) rs2102689621
NM_001205293.3(CACNA1E):c.4274C>A (p.Thr1425Asn) rs2102689660
NM_001205293.3(CACNA1E):c.4288G>A (p.Gly1430Arg) rs1553345844
NM_001205293.3(CACNA1E):c.5159C>G (p.Ala1720Gly) rs2102795834
NM_001205293.3(CACNA1E):c.683T>C (p.Leu228Pro) rs1553286282
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.1181_1182del (p.Gln394fs) rs2101015147
NM_001253852.3(AP4B1):c.1282G>T (p.Glu428Ter) rs1060499756
NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro) rs746890435
NM_001253852.3(AP4B1):c.1355del (p.Asn452fs) rs2100998416
NM_001253852.3(AP4B1):c.1496del (p.Leu499fs) rs2100997427
NM_001253852.3(AP4B1):c.1544del (p.Gly515fs) rs1667419336
NM_001253852.3(AP4B1):c.1608_1609insCA (p.Lys537fs) rs2100995157
NM_001253852.3(AP4B1):c.1655del (p.Pro552fs) rs2100994885
NM_001253852.3(AP4B1):c.1793-1G>A rs2100992189
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs) rs797045244
NM_001253852.3(AP4B1):c.311del (p.Leu104fs) rs2101043631
NM_001253852.3(AP4B1):c.313del (p.Ala105fs) rs587783179
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer) rs1553259463
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer) rs2101035173
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs) rs879255397
NM_001253852.3(AP4B1):c.664del (p.Leu222fs) rs1571563769
NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu) rs1060499771
NM_001253852.3(AP4B1):c.991C>T (p.Gln331Ter) rs2101024858
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn) rs768740459
NM_001256715.2(DNAAF3):c.174del (p.His59fs) rs1384651581
NM_001271049.2(CFAP221):c.2303_2307del (p.Leu768fs) rs2104806661
NM_001358921.2(COQ2):c.26dup (p.Ala10fs) rs1198292264
NM_001366385.1(CARD14):c.349+5G>C rs587777763
NM_001366385.1(CARD14):c.356T>C (p.Met119Thr) rs1598639584
NM_001366385.1(CARD14):c.356T>G (p.Met119Arg) rs1598639584
NM_001366385.1(CARD14):c.371T>C (p.Leu124Pro) rs1598639617
NM_001366385.1(CARD14):c.380G>C (p.Cys127Ser) rs1598639659
NM_001366385.1(CARD14):c.412G>A (p.Glu138Lys) rs1567872320
NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro) rs387907240
NM_001366385.1(CARD14):c.470A>C (p.Gln157Pro) rs1598639974
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys) rs1320036244
NM_001369.3(DNAH5):c.1731-2A>T rs2151963411
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer) rs1554090622
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs) rs1580731750
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.4117-2A>G rs1467301649
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro) rs74799487
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs) rs2151860332
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs) rs1554062097
NM_001369.3(DNAH5):c.6988+2T>C rs2151806960
NM_001369.3(DNAH5):c.8092_8097del (p.Val2698_Asp2699del) rs1757363484
NM_001369.3(DNAH5):c.8141del (p.Asn2714fs) rs2126910254
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter) rs923842695
NM_001371986.1(UNC80):c.1681_1682del (p.Thr561fs) rs1574579609
NM_001371986.1(UNC80):c.2399del (p.Leu800fs) rs1135401813
NM_001371986.1(UNC80):c.4144G>T (p.Glu1382Ter) rs981874506
NM_001371986.1(UNC80):c.5869C>T (p.Arg1957Ter) rs1262654975
NM_001371986.1(UNC80):c.601-1G>A rs1574434743
NM_001371986.1(UNC80):c.8256+2T>G rs1575179679
NM_001371986.1(UNC80):c.8314C>T (p.Arg2772Ter) rs1575183610
NM_001374353.1(GLI2):c.1600G>A (p.Ala534Thr) rs1340215600
NM_001374623.1(PNPLA1):c.1300del (p.Ala434fs) rs753687060
NM_001374623.1(PNPLA1):c.157T>C (p.Ser53Pro) rs1582046125
NM_001374623.1(PNPLA1):c.158C>G (p.Ser53Trp) rs1207879599
NM_001374623.1(PNPLA1):c.362A>C (p.His121Pro) rs1407871103
NM_001374623.1(PNPLA1):c.421A>G (p.Lys141Glu) rs1582078740
NM_001374623.1(PNPLA1):c.448T>C (p.Cys150Arg) rs1582081682
NM_001374623.1(PNPLA1):c.646T>C (p.Cys216Arg) rs1554138062
NM_001374623.1(PNPLA1):c.92C>A (p.Ala31Asp) rs1231123861
NM_001374623.1(PNPLA1):c.939G>T (p.Glu313Asp) rs1582097565
NM_001374623.1(PNPLA1):c.940_952del (p.Trp314fs) rs1582097559
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp) rs2048519381
NM_001377.3(DYNC2H1):c.9638A>G (p.Tyr3213Cys) rs923729821
NM_001379500.1(COL18A1):c.1070dup (p.Gly358fs) rs1555860555
NM_001379500.1(COL18A1):c.3522_3523del (p.Leu1175fs) rs1602651770
NM_001379500.1(COL18A1):c.3959_3960insTGCC (p.Cys1321fs) rs1555877107
NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp) rs2071367863
NM_001448.3(GPC4):c.455del (p.Val152fs) rs2124120705
NM_001453.3(FOXC1):c.1025C>T (p.Ala342Val) rs773600190
NM_001453.3(FOXC1):c.1139G>T (p.Gly380Val) rs1581374640
NM_001453.3(FOXC1):c.207GCAGCC[3] (p.70QP[3]) rs780038931
NM_001453.3(FOXC1):c.430AAG[1] (p.Lys145del) rs768741176
NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del) rs774848608
NM_001454.4(FOXJ1):c.826C>T (p.Gln276Ter) rs1598372878
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) rs281875326
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001845.6(COL4A1):c.2512A>G (p.Met838Val) rs2139164333
NM_001845.6(COL4A1):c.2782G>C (p.Asp928His) rs2139163073
NM_001845.6(COL4A1):c.4213G>A (p.Gly1405Ser) rs1877181545
NM_001846.4(COL4A2):c.3472G>C (p.Gly1158Arg) rs2139537197
NM_001903.5(CTNNA1):c.2572_2586dup (p.Ser858_Lys862dup) rs2150359366
NM_001904.4(CTNNB1):c.160G>T (p.Glu54Ter) rs2078133150
NM_002060.3(GJA4):c.121G>T (p.Gly41Cys) rs1640240555
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) rs1555702147
NM_002204.4(ITGA3):c.1883G>C (p.Arg628Pro) rs140781106
NM_002204.4(ITGA3):c.2593del (p.Asp865fs) rs2144304926
NM_002292.4(LAMB2):c.143A>C (p.Tyr48Ser) rs776905329
NM_002292.4(LAMB2):c.4537C>T (p.Gln1513Ter) rs2107636063
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.4(MC1R):c.517GTC[1] (p.Val174del) rs747777879
NM_002386.4(MC1R):c.894C>G (p.Tyr298Ter) rs143395134
NM_002461.3(MVD):c.811_815del (p.Phe271fs) rs2142896426
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_003040.4(SLC4A2):c.2107G>A (p.Ala703Thr) rs1430578614
NM_003070.5(SMARCA2):c.2564G>T (p.Arg855Leu) rs1471482709
NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs) rs1576412227
NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro) rs1576408057
NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs) rs1576408050
NM_003074.4(SMARCC1):c.2672del (p.Lys891fs) rs1576390243
NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter) rs1576426439
NM_003108.4(SOX11):c.191G>A (p.Arg64His) rs2103276364
NM_003114.5(SPAG1):c.1119del (p.Ala374fs) rs1244721341
NM_003221.4(TFAP2B):c.1144C>T (p.Arg382Ter) rs2113960501
NM_003221.4(TFAP2B):c.3G>A (p.Met1Ile) rs2113920409
NM_003221.4(TFAP2B):c.601+2T>A rs2113937986
NM_003221.4(TFAP2B):c.827A>G (p.Lys276Arg) rs2113952620
NM_003235.5(TG):c.1076-1G>C rs1412480668
NM_003285.3(TNR):c.1594G>A (p.Asp532Asn) rs892080402
NM_003285.3(TNR):c.1899del (p.Glu634fs) rs1571360953
NM_003285.3(TNR):c.207C>G (p.Tyr69Ter) rs1389178206
NM_003285.3(TNR):c.2713C>T (p.Arg905Ter) rs1287757170
NM_003285.3(TNR):c.2744_2745del (p.Val915fs) rs1571339601
NM_003285.3(TNR):c.3357C>G (p.Ser1119Arg) rs1571329071
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu) rs780475918
NM_003361.4(UMOD):c.280T>C (p.Cys94Arg) rs2141676543
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003396.3(WNT9B):c.11dup (p.Pro5fs) rs1291189006
NM_003396.3(WNT9B):c.949G>A (p.Gly317Arg) rs753748759
NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr) rs2137715091
NM_003486.7(SLC7A5):c.737C>T (p.Ala246Val) rs2143738378
NM_003489.4(NRIP1):c.279del (p.Asp92_Trp93insTer) rs1555879360
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter) rs2147086302
NM_003611.3(OFD1):c.2868del (p.Pro957fs) rs2147086315
NM_003647.3(DGKE):c.301A>T (p.Lys101Ter) rs777787526
NM_003647.3(DGKE):c.610del (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.888+40A>G rs1555599211
NM_003722.5(TP63):c.1012C>T (p.Arg338Cys) rs1404019220
NM_003901.4(SGPL1):c.1037G>T (p.Ser346Ile) rs1131692256
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln) rs769259446
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004040.4(RHOB):c.218C>T (p.Ser73Phe) rs550750241
NM_004297.4(GNA14):c.614A>T (p.Gln205Leu) rs1554685903
NM_004304.5(ALK):c.3243C>G (p.Ser1081Arg) rs1669864463
NM_004304.5(ALK):c.3959G>A (p.Trp1320Ter) rs2148143597
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004444.5(EPHB4):c.1295_1296del (p.Glu432fs) rs2116449991
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) rs146937374
NM_004525.3(LRP2):c.12623C>A (p.Pro4208His) rs2105348670
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs) rs80338754
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His) rs80338747
NM_004525.3(LRP2):c.857G>T (p.Cys286Phe) rs2105467271
NM_004606.5(TAF1):c.1454T>A (p.Ile485Asn) rs2148276174
NM_004606.5(TAF1):c.1979G>A (p.Gly660Asp) rs1602489684
NM_004606.5(TAF1):c.1A>T (p.Met1Leu) rs2148106783
NM_004606.5(TAF1):c.2120G>C (p.Arg707Pro) rs1602490113
NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys) rs1602506017
NM_004606.5(TAF1):c.2866G>C (p.Asp956His) rs864321631
NM_004606.5(TAF1):c.2873C>T (p.Thr958Met) rs2034628748
NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe) rs1057518019
NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile) rs1602520317
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_004606.5(TAF1):c.3796G>A (p.Gly1266Arg) rs2148443174
NM_004606.5(TAF1):c.4052T>C (p.Leu1351Pro) rs2148479895
NM_004606.5(TAF1):c.4295G>A (p.Arg1432His) rs2148488251
NM_004606.5(TAF1):c.4382A>T (p.Asn1461Ile) rs1602572645
NM_004606.5(TAF1):c.4394A>G (p.His1465Arg) rs1064793874
NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu) rs1591517912
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg) rs386833892
NM_004646.4(NPHS1):c.2014G>A (p.Ala672Thr) rs1352354716
NM_004646.4(NPHS1):c.2020C>A (p.Pro674Thr) rs2146822238
NM_004646.4(NPHS1):c.2506+5G>T rs762704370
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.728C>T (p.Pro243Leu) rs919999972
NM_004722.4(AP4M1):c.1026-1G>T rs2116670931
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_004722.4(AP4M1):c.194_195del (p.Tyr65fs) rs777377185
NM_004722.4(AP4M1):c.218dup (p.Asn73fs) rs1321353475
NM_004722.4(AP4M1):c.330C>G (p.Tyr110Ter) rs752598529
NM_004722.4(AP4M1):c.521dup (p.Leu175fs) rs2116638409
NM_004722.4(AP4M1):c.544-8_544-3del rs1064794383
NM_004722.4(AP4M1):c.694del (p.Glu232fs) rs1584514057
NM_004722.4(AP4M1):c.694dup (p.Glu232fs) rs1584514057
NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser) rs1554380391
NM_004722.4(AP4M1):c.90del (p.Glu31fs) rs2116616864
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_004722.4(AP4M1):c.956G>A (p.Cys319Tyr) rs1057521784
NM_004722.4(AP4M1):c.974+1G>T rs1344550427
NM_004787.4(SLIT2):c.2712A>T (p.Lys904Asn) rs1008555507
NM_004787.4(SLIT2):c.292G>A (p.Ala98Thr) rs1577330805
NM_004937.3(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004998.4(MYO1E):c.1228G>A (p.Glu410Lys) rs2140342702
NM_004998.4(MYO1E):c.1978C>T (p.Gln660Ter) rs2140319931
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005027.4(PIK3R2):c.1126A>G (p.Lys376Glu) rs886041591
NM_005027.4(PIK3R2):c.1669G>T (p.Asp557Tyr) rs372272045
NM_005245.4(FAT1):c.9259C>G (p.Arg3087Gly) rs375998390
NM_005257.6(GATA6):c.1532C>G (p.Ser511Cys) rs1598738032
NM_005343.4(HRAS):c.100C>T (p.Pro34Ser) rs1348427922
NM_005343.4(HRAS):c.145G>A (p.Glu49Lys) rs1277340795
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) rs104894228
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.44G>A (p.Gly15Asp) rs1554885139
NM_005378.6(MYCN):c.1178G>A (p.Arg393His) rs104893646
NM_005560.6(LAMA5):c.3002A>G (p.Glu1001Gly) rs1601356283
NM_005585.5(SMAD6):c.465_471del (p.Gly156fs) rs958818801
NM_005660.3(SLC35A2):c.164G>T (p.Arg55Leu) rs1557043650
NM_005660.3(SLC35A2):c.337_339dup (p.Leu113dup) rs2147489679
NM_005660.3(SLC35A2):c.634_635del (p.Ser212fs) rs1602338615
NM_005660.3(SLC35A2):c.747_757dup (p.Ala253fs) rs2147486766
NM_005660.3(SLC35A2):c.910T>C (p.Ser304Pro) rs2147486180
NM_005807.6(PRG4):c.1194del (p.Thr399fs) rs748663740
NM_005807.6(PRG4):c.1911del (p.Glu638fs) rs1571569884
NM_005807.6(PRG4):c.2215A>T (p.Lys739Ter) rs776645239
NM_005807.6(PRG4):c.2841_2842del (p.Lys947fs) rs1475926873
NM_005807.6(PRG4):c.3277_3278del (p.Lys1093fs) rs1258207620
NM_005807.6(PRG4):c.3917_3934del (p.Arg1306_Ser1311del) rs1571587012
NM_005807.6(PRG4):c.4101C>G (p.Tyr1367Ter) rs1388040598
NM_005807.6(PRG4):c.849del (p.Val284fs) rs1571563202
NM_006009.4(TUBA1A):c.1222T>G (p.Tyr408Asp) rs2121241414
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) rs886039513
NM_006009.4(TUBA1A):c.455T>A (p.Leu152Gln) rs1057521063
NM_006121.4(KRT1):c.1865dup (p.Val623fs) rs1555171158
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn) rs1064793349
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006556.4(PMVK):c.379C>T (p.Gln127Ter) rs2101965598
NM_006576.4(AVIL):c.1337G>A (p.Arg446His) rs1334894971
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys) rs104893726
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile) rs1554688023
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter) rs139494583
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser) rs1594982548
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_007286.6(SYNPO):c.1808C>T (p.Pro603Leu) rs1464796596
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg) rs587777361
NM_007347.5(AP4E1):c.1358_1359dup (p.Val454fs) rs2140861869
NM_007347.5(AP4E1):c.1833del (p.Ser612fs) rs2140878481
NM_007347.5(AP4E1):c.3277C>T (p.Gln1093Ter) rs773929706
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter) rs1313275799
NM_007347.5(AP4E1):c.542+5_542+8del rs2141147450
NM_007347.5(AP4E1):c.652_653del (p.Asp218fs) rs2063801225
NM_007347.5(AP4E1):c.881_891del (p.Leu294fs) rs2141164712
NM_007347.5(AP4E1):c.944-1G>C rs1555456727
NM_012144.4(DNAI1):c.1463del (p.Pro488fs) rs2132081705
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) rs368248592
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012330.4(KAT6B):c.4285G>A (p.Glu1429Lys) rs1846114839
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) rs121908436
NM_014140.4(SMARCAL1):c.1736C>A (p.Ser579Ter) rs1694331040
NM_014140.4(SMARCAL1):c.1822T>C (p.Phe608Leu) rs2106050388
NM_014140.4(SMARCAL1):c.1940A>C (p.Lys647Thr) rs2106055226
NM_014208.3(DSPP):c.3135del (p.Ser1045fs) rs1553904372
NM_014208.3(DSPP):c.3504_3508dup (p.Asp1170fs) rs1553904512
NM_014553.3(TFCP2L1):c.689del (p.Asp230fs) rs2104690970
NM_014625.4(NPHS2):c.1059_1060del (p.Ser354fs) rs2125764106
NM_014625.4(NPHS2):c.1120A>T (p.Asn374Tyr) rs2125763683
NM_014625.4(NPHS2):c.1A>T (p.Met1Leu) rs2101887841
NM_014625.4(NPHS2):c.397del (p.Arg133fs) rs1481262338
NM_014625.4(NPHS2):c.419del (p.Gly140fs) rs749779208
NM_014625.4(NPHS2):c.742G>A (p.Ala248Thr) rs2125780619
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_014625.4(NPHS2):c.910_918del (p.Ser304_Arg306del) rs2125765369
NM_014669.5(NUP93):c.1886A>G (p.Tyr629Cys) rs757674160
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly) rs121908512
NM_014946.4(SPAST):c.1483G>C (p.Ala495Pro) rs1060502228
NM_014967.5(FAN1):c.2590C>T (p.Gln864Ter) rs767651793
NM_015143.3(METAP1):c.865C>T (p.Arg289Ter) rs779530889
NM_015352.2(POFUT1):c.889_890del (p.Trp297fs) rs2122601454
NM_015419.4(MXRA5):c.204_205insT (p.Ala69fs) rs2146928273
NM_015915.5(ATL1):c.1049C>T (p.Ala350Val) rs2140234783
NM_015915.5(ATL1):c.1216A>C (p.Lys406Gln) rs1595625104
NM_016058.5(TPRKB):c.407T>C (p.Leu136Pro) rs1553433412
NM_016059.5(PPIL1):c.245T>C (p.Phe82Ser) rs2150653717
NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr) rs199818754
NM_016059.5(PPIL1):c.301_318dup (p.Ala101_Asp106dup) rs2150653427
NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala) rs1583103432
NM_016059.5(PPIL1):c.325G>T (p.Gly109Cys) rs2150653422
NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp) rs746964903
NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe) rs2131335751
NM_016188.5(ACTL6B):c.465del (p.Ala156fs) rs2131335747
NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro) rs2131334872
NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter) rs2131333638
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.4(MYO15A):c.9467T>C (p.Leu3156Pro) rs2046774616
NM_016338.5(IPO11):c.-6-1400_138+1704dup
NM_016341.4(PLCE1):c.1709del (p.Ser570fs) rs2136320656
NM_016341.4(PLCE1):c.2576_2577insT (p.Gln859fs) rs2137512478
NM_016341.4(PLCE1):c.3379_3380del (p.Ile1126_Asn1127insTer) rs2132855762
NM_016341.4(PLCE1):c.4506+2T>C rs2133127123
NM_016341.4(PLCE1):c.4887del (p.Ala1630fs) rs747229979
NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs) rs1589475328
NM_016341.4(PLCE1):c.5521A>G (p.Lys1841Glu) rs2133612592
NM_016341.4(PLCE1):c.5951_5953del (p.Asn1984del) rs2133673643
NM_016580.4(PCDH12):c.2511del (p.Ser838fs) rs1596646372
NM_016580.4(PCDH12):c.2765_2766del (p.Pro922fs) rs1596646165
NM_017617.5(NOTCH1):c.2155G>T (p.Glu719Ter) rs2133360646
NM_017617.5(NOTCH1):c.2272G>T (p.Glu758Ter) rs1843215220
NM_017617.5(NOTCH1):c.3463C>T (p.Gln1155Ter) rs2133346299
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter) rs1554826746
NM_017780.4(CHD7):c.5114C>A (p.Pro1705Gln) rs373986410
NM_017780.4(CHD7):c.732C>G (p.Ser244Arg) rs779776551
NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe) rs1555331969
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter) rs2143789412
NM_017950.4(CCDC40):c.93+2T>C rs2037179047
NM_018082.6(POLR3B):c.1199T>C (p.Phe400Ser) rs1414538226
NM_018082.6(POLR3B):c.2637dup (p.Leu880fs) rs2137036897
NM_018082.6(POLR3B):c.2818-2A>T rs146836923
NM_018180.3(DHX32):c.683A>G (p.Tyr228Cys) rs2134053537
NM_018180.3(DHX32):c.798T>G (p.Ile266Met) rs2134053360
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_018344.6(SLC29A3):c.303_320dup (p.Tyr102_Leu107dup) rs1846497179
NM_018384.5(GIMAP5):c.667C>T (p.Leu223Phe) rs2116581086
NM_018714.3(COG1):c.1070+5G>A rs1568296260
NM_019024.3(HEATR5B):c.5050+4A>G rs1667224478
NM_019024.3(HEATR5B):c.5051-1G>A rs1667163007
NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs) rs1806006713
NM_020632.3(ATP6V0A4):c.2446A>G (p.Lys816Glu) rs2117166533
NM_020762.4(SRGAP1):c.1993C>A (p.Pro665Thr) rs1592332125
NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr) rs1208074975
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs) rs587777498
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs) rs587777499
NM_021828.5(HPSE2):c.1099-2A>G rs2133986448
NM_021913.5(AXL):c.874del (p.His292fs) rs778012871
NM_022489.4(INF2):c.353T>A (p.Ile118Asn) rs2140639518
NM_022489.4(INF2):c.532T>G (p.Phe178Val) rs2140648131
NM_022489.4(INF2):c.542T>G (p.Val181Gly) rs2140648160
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.625C>T (p.Arg209Cys) rs1554564353
NM_023110.3(FGFR1):c.6G>A (p.Trp2Ter) rs1554594114
NM_023110.3(FGFR1):c.779G>A (p.Gly260Glu) rs2150824695
NM_024312.5(GNPTAB):c.22A>G (p.Arg8Gly) rs1594269995
NM_024408.4(NOTCH2):c.1211C>T (p.Pro404Leu) rs2101145406
NM_024408.4(NOTCH2):c.1243G>A (p.Asp415Asn) rs2101145278
NM_024408.4(NOTCH2):c.30G>A (p.Trp10Ter) rs782598895
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr) rs1570658378
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn) rs2150668444
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter) rs2105344578
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030912.3(TRIM8):c.1163del (p.Phe388fs) rs2135984840
NM_030912.3(TRIM8):c.1231C>T (p.Gln411Ter) rs2135984949
NM_030912.3(TRIM8):c.1240C>T (p.Gln414Ter) rs2135984958
NM_030912.3(TRIM8):c.1267C>T (p.Gln423Ter) rs2064030858
NM_030912.3(TRIM8):c.1333C>T (p.Gln445Ter) rs2135985076
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) rs866294686
NM_030912.3(TRIM8):c.1380T>A (p.Tyr460Ter) rs2135985150
NM_030912.3(TRIM8):c.1461C>G (p.Tyr487Ter) rs1387656757
NM_030954.4(RNF170):c.304T>C (p.Cys102Arg) rs1183403793
NM_032387.5(WNK4):c.506C>T (p.Pro169Leu) rs2143987485
NM_032756.4(HPDL):c.1072T>G (p.Trp358Gly) rs2149082406
NM_032756.4(HPDL):c.110G>C (p.Arg37Pro) rs745594303
NM_032756.4(HPDL):c.232G>A (p.Ala78Thr) rs1360472871
NM_032756.4(HPDL):c.256del (p.Ala86fs) rs753787033
NM_032756.4(HPDL):c.27C>A (p.Cys9Ter) rs1373645311
NM_032756.4(HPDL):c.342_345dup (p.Ala116fs) rs1644248738
NM_032756.4(HPDL):c.418G>A (p.Gly140Arg) rs758727749
NM_032756.4(HPDL):c.493A>C (p.Thr165Pro) rs1446895238
NM_032756.4(HPDL):c.518C>A (p.Ser173Tyr) rs2149081821
NM_032756.4(HPDL):c.523_529del (p.Thr175fs) rs2149081832
NM_032756.4(HPDL):c.529_530del (p.Leu177fs) rs1644253428
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu) rs368625962
NM_032756.4(HPDL):c.650T>C (p.Leu217Pro) rs1297494568
NM_032756.4(HPDL):c.679del (p.Thr227fs) rs2149081995
NM_032756.4(HPDL):c.692C>G (p.Ala231Gly) rs756300449
NM_032756.4(HPDL):c.769_771delinsTC (p.Gln257fs) rs2149082096
NM_032756.4(HPDL):c.788C>G (p.Thr263Arg) rs116004018
NM_032756.4(HPDL):c.816_817del (p.Val273fs) rs2149082140
NM_032756.4(HPDL):c.995del (p.Thr332fs) rs1167901073
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) rs797044994
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_033380.3(COL4A5):c.1423+1G>T rs104886312
NM_033380.3(COL4A5):c.2396G>A (p.Gly799Asp) rs2147849728
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp) rs281874721
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter) rs104886299
NM_033629.6(TREX1):c.830_833dup (p.Asp278fs) rs2107265602
NM_052867.4(NALCN):c.2435dup (p.Glu813fs) rs1594218864
NM_052867.4(NALCN):c.2629del (p.Gln877fs) rs1594212468
NM_052867.4(NALCN):c.2758del (p.Ile920fs) rs1594211334
NM_052867.4(NALCN):c.2889+3_2889+6del rs1594211051
NM_052867.4(NALCN):c.3056dup (p.Leu1019fs) rs772394714
NM_052867.4(NALCN):c.321G>A (p.Trp107Ter) rs1594761911
NM_052867.4(NALCN):c.3556C>T (p.Gln1186Ter) rs1594168638
NM_052867.4(NALCN):c.4103+2T>C rs1594146891
NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter) rs1031314447
NM_052867.4(NALCN):c.4281C>A (p.Phe1427Leu) rs1594134160
NM_052867.4(NALCN):c.4333A>T (p.Ile1445Leu) rs1459166839
NM_052867.4(NALCN):c.537del (p.Ile178_Trp179insTer) rs1594759803
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.820dup (p.Arg274fs) rs1582064844
NM_138694.4(PKHD1):c.880+1G>C rs1582064292
NM_138694.4(PKHD1):c.9208C>T (p.Gln3070Ter) rs1582441455
NM_144773.4(PROKR2):c.1019C>G (p.Thr340Ser) rs2122203627
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144773.4(PROKR2):c.332T>G (p.Met111Arg) rs914930539
NM_152732.5(RSPH9):c.244del (p.Trp82fs) rs2127891310
NM_173494.2(DNAAF6):c.332+1G>A rs2147829163
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter) rs1131692047
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter) rs776560015
NM_177400.3(NKX6-2):c.571C>T (p.Gln191Ter) rs2134706311
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter) rs1565019976
NM_177400.3(NKX6-2):c.592A>G (p.Asn198Asp) rs2134706153
NM_177400.3(NKX6-2):c.598C>T (p.Arg200Trp) rs770310729
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln) rs1008088032
NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs) rs1565019932
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter) rs1565019928
NM_178138.6(LHX3):c.934G>A (p.Gly312Ser) rs866451680
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter) rs2087613070
NM_178452.6(DNAAF1):c.831C>G (p.Tyr277Ter) rs1396269749
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) rs747980515
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs) rs751239231
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly) rs1560092712
NM_181426.2(CCDC39):c.436del (p.Trp146fs) rs2108429507
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_182758.4(WDR72):c.477_485dup (p.Ile159_Cys161dup) rs2140558454
NM_182758.4(WDR72):c.764_768del (p.Gly255fs) rs1469562355
NM_182920.2(ADAMTS9):c.4575_4576del (p.Gln1525fs) rs2106648140
NM_197968.4(ZMYM2):c.1192C>T (p.Gln398Ter) rs2139949646
NM_197968.4(ZMYM2):c.1367dup (p.Tyr456Ter) rs2139974502
NM_197968.4(ZMYM2):c.1607del (p.Cys536fs) rs2140253640
NM_197968.4(ZMYM2):c.1618C>T (p.Arg540Ter) rs1309291116
NM_197968.4(ZMYM2):c.1623_1627del (p.Cys543fs) rs2140253913
NM_197968.4(ZMYM2):c.2165T>A (p.Leu722Ter) rs2140369057
NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter) rs757669327
NM_197968.4(ZMYM2):c.2434_2437del (p.Lys812fs) rs2140576563
NM_197968.4(ZMYM2):c.2494-1G>A rs2140726371
NM_197968.4(ZMYM2):c.3130_3131dup (p.Gly1045fs) rs753611080
NM_197968.4(ZMYM2):c.3176dup (p.Asp1059fs) rs2140884265
NM_197968.4(ZMYM2):c.3246G>A (p.Trp1082Ter) rs2140884891
NM_197968.4(ZMYM2):c.622C>T (p.Arg208Ter) rs2139746476
NM_197968.4(ZMYM2):c.766_767dup (p.Val256_Gly257insTer) rs2139748846
NM_198428.3(BBS9):c.542C>G (p.Pro181Arg) rs779588488
NM_207037.2(TCF12):c.1643_1647del (p.Glu548fs) rs2152060519
NM_207361.6(FREM2):c.2533C>T (p.His845Tyr) rs1869732816
NM_207361.6(FREM2):c.649C>T (p.Arg217Cys) rs199674984

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.