ClinVar Miner

List of variants reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1147
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_015836.4(WARS2):c.938A>T (p.Lys313Met) rs145867327 0.00035
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter) rs200353633 0.00032
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_020361.5(CPA6):c.931C>T (p.Arg311Ter) rs139145929 0.00023
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His) rs201088712 0.00020
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp) rs142143752 0.00017
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) rs376103979 0.00013
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_017872.5(THG1L):c.164T>C (p.Val55Ala) rs201920319 0.00012
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000666.3(ACY1):c.480_493dup (p.His165fs) rs769746453 0.00011
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_178857.6(RP1L1):c.3925G>T (p.Gly1309Ter) rs758831525 0.00011
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_015681.6(B9D1):c.341+2T>C rs143149764 0.00009
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_001379500.1(COL18A1):c.928+2T>C rs907713687 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) rs774521989 0.00005
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613 0.00005
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) rs578189699 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter) rs759372918 0.00004
NM_000144.5(FXN):c.389G>T (p.Gly130Val) rs104894107 0.00004
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) rs119481079 0.00004
NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val) rs142236065 0.00004
NM_000197.2(HSD17B3):c.614T>A (p.Val205Glu) rs372027264 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324 0.00004
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940 0.00004
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) rs587784326 0.00004
NM_004268.5(MED17):c.571C>T (p.Arg191Trp) rs587780394 0.00004
NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn) rs200089121 0.00004
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077 0.00004
NM_017775.4(TTC19):c.583C>T (p.Gln195Ter) rs764720544 0.00004
NM_018062.4(FANCL):c.472-1G>C rs768814501 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_198525.3(KIF7):c.328+2T>G rs781752990 0.00004
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) rs778865255 0.00003
NM_000212.3(ITGB3):c.1985G>A (p.Arg662His) rs369443204 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_001083961.2(WDR62):c.3335+3A>G rs587784554 0.00003
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732 0.00003
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_015599.3(PGM3):c.-2-194C>T rs753019951 0.00003
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val) rs748872789 0.00003
NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His) rs747962927 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) rs797045839 0.00002
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile) rs753657349 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg) rs72551348 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) rs121908681 0.00002
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln) rs387906828 0.00002
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter) rs201239579 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser) rs771786550 0.00002
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_015450.3(POT1):c.1164-1G>A rs866612394 0.00002
NM_016222.4(DDX41):c.1187T>C (p.Ile396Thr) rs747072227 0.00002
NM_016222.4(DDX41):c.773C>T (p.Pro258Leu) rs1289634533 0.00002
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430 0.00002
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) rs587783733 0.00002
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) rs587779736 0.00002
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195 0.00001
NM_000047.3(ARSL):c.337C>T (p.Leu113Phe) rs145946864 0.00001
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu) rs1057521115 0.00001
NM_000051.4(ATM):c.1838T>G (p.Val613Gly) rs762018538 0.00001
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402 0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291 0.00001
NM_000135.4(FANCA):c.2621G>C (p.Arg874Thr) rs780114543 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000162.5(GCK):c.1120G>C (p.Val374Leu) rs1415041911 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.908G>A (p.Arg303Gln) rs1312678560 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser) rs1364834942 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 0.00001
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401 0.00001
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg) rs748233295 0.00001
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val) rs776100468 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000372.5(TYR):c.635G>A (p.Arg212Lys) rs377209424 0.00001
NM_000407.5(GP1BB):c.340C>T (p.Arg114Cys) rs587783648 0.00001
NM_000426.4(LAMA2):c.6520del (p.Asn2173_Val2174insTer) rs776548207 0.00001
NM_000521.4(HEXB):c.778T>C (p.Tyr260His) rs1453919511 0.00001
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met) rs1057518775 0.00001
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys) rs775204908 0.00001
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup) rs797045933 0.00001
NM_000545.8(HNF1A):c.146C>A (p.Ser49Tyr) rs780298807 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser) rs137852874 0.00001
NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr) rs146312522 0.00001
NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser) rs587784548 0.00001
NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr) rs587784558 0.00001
NM_001109809.5(ZFP57):c.770G>A (p.Arg257Gln) rs1362771214 0.00001
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) rs1064794263 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_001195263.2(PDZD7):c.1113del (p.Thr372fs) rs1280689930 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001360.3(DHCR7):c.821A>G (p.Asn274Ser) rs774275482 0.00001
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys) rs782345472 0.00001
NM_001365999.1(SZT2):c.654_655del (p.Asp220fs) rs756942804 0.00001
NM_001365999.1(SZT2):c.9269G>A (p.Arg3090His) rs374490896 0.00001
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062 0.00001
NM_002241.5(KCNJ10):c.115G>A (p.Val39Met) rs1274663711 0.00001
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln) rs397514673 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro) rs121918051 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750 0.00001
NM_003119.4(SPG7):c.1552+2dup rs1567928509 0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg) rs752989523 0.00001
NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe) rs587784331 0.00001
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) rs145639028 0.00001
NM_006070.6(TFG):c.317G>A (p.Arg106His) rs376971794 0.00001
NM_013275.6(ANKRD11):c.7750G>A (p.Ala2584Thr) rs150393722 0.00001
NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly) rs756235299 0.00001
NM_014704.4(CEP104):c.49del (p.Asp17fs) rs1334483830 0.00001
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys) rs119475041 0.00001
NM_014915.3(ANKRD26):c.-126T>C rs1589393792 0.00001
NM_015166.4(MLC1):c.525+1G>A rs769135961 0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His) rs758440592 0.00001
NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg) rs797045970 0.00001
NM_016188.5(ACTL6B):c.388C>T (p.Arg130Trp) rs779321230 0.00001
NM_017739.4(POMGNT1):c.652+1G>T rs386834035 0.00001
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys) rs751459271 0.00001
NM_018122.5(DARS2):c.259G>A (p.Asp87Asn) rs1209550754 0.00001
NM_020247.5(COQ8A):c.854-2A>G rs1338137742 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His) rs587784175 0.00001
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682 0.00001
NM_024306.5(FA2H):c.806G>A (p.Arg269His) rs1429546236 0.00001
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter) rs1361547443 0.00001
NM_025009.5(CEP135):c.3247C>T (p.Arg1083Ter) rs1730945388 0.00001
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg) rs797046051 0.00001
NM_030954.4(RNF170):c.640A>G (p.Ile214Val) rs587780441 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_152701.5(ABCA13):c.11473+2T>C rs797045205 0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His) rs769611275 0.00001
NM_153704.6(TMEM67):c.2764+2T>A rs1293481687 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp) rs1422814635 0.00001
NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro) rs587783654 0.00001
NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp) rs532188689 0.00001
NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly) rs397509387 0.00001
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg) rs1555568318
NM_000038.6(APC):c.6230_6236del (p.Thr2077fs) rs2149960139
NM_000044.6(AR):c.1768+2T>C rs1555982894
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.2090C>A (p.Ser697Tyr) rs1555995842
NM_000044.6(AR):c.2197G>A (p.Asp733Asn) rs2147530668
NM_000044.6(AR):c.2668G>T (p.Val890Leu) rs886041133
NM_000048.4(ASL):c.556C>T (p.Arg186Trp) rs111407265
NM_000051.4(ATM):c.2571_2572del (p.Leu857_Phe858insTer) rs1555082257
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe) rs1057523385
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro) rs72554639
NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His) rs797045348
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp) rs797045362
NM_000052.7(ATP7A):c.2781G>C (p.Lys927Asn) rs797045363
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3294+1G>T rs797045374
NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys) rs797045376
NM_000052.7(ATP7A):c.3800A>T (p.Gln1267Leu) rs797045385
NM_000052.7(ATP7A):c.3801+4A>G rs797045387
NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg) rs797045394
NM_000052.7(ATP7A):c.4187C>T (p.Ser1396Leu) rs797045396
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe) rs121909511
NM_000101.4(CYBA):c.246del (p.Phe83fs) rs1439134665
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu) rs1554879846
NM_000110.4(DPYD):c.895C>T (p.Gln299Ter) rs2102259303
NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs) rs1554095433
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter) rs1850750513
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.826+5_826+9del rs797045570
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.2647-20T>G rs1555603208
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) rs587780343
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) rs1131691505
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro) rs749298368
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys) rs1554334579
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp) rs1554334546
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) rs267601516
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.158C>T (p.Ala53Val) rs2128823130
NM_000162.5(GCK):c.215G>A (p.Gly72Glu) rs2128822720
NM_000162.5(GCK):c.317del (p.Gln106fs) rs2128822656
NM_000162.5(GCK):c.356C>A (p.Ala119Asp) rs1176659689
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.364C>G (p.Leu122Val) rs1554335616
NM_000162.5(GCK):c.367T>C (p.Phe123Leu)
NM_000162.5(GCK):c.477C>G (p.Ile159Met) rs1554335567
NM_000162.5(GCK):c.511T>G (p.Phe171Val) rs2128821636
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.617C>T (p.Thr206Met) rs1441649062
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.635_637del (p.Ser212del) rs193922314
NM_000162.5(GCK):c.824G>T (p.Arg275Leu) rs767565869
NM_000162.5(GCK):c.871A>G (p.Lys291Glu) rs193922335
NM_000162.5(GCK):c.98T>A (p.Val33Glu) rs1554335954
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000195.5(HPS1):c.2009T>C (p.Leu670Pro) rs2136078570
NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr) rs780178733
NM_000207.2(INS):c.-152C>A rs748749585
NM_000207.3(INS):c.103C>G (p.Leu35Val) rs1278232284
NM_000207.3(INS):c.163C>T (p.Arg55Cys) rs121908261
NM_000207.3(INS):c.289A>C (p.Thr97Pro) rs2133672927
NM_000207.3(INS):c.299G>A (p.Cys100Tyr)
NM_000207.3(INS):c.308A>G (p.Tyr103Cys) rs121908277
NM_000207.3(INS):c.71C>T (p.Ala24Val) rs80356663
NM_000207.3(INS):c.95G>T (p.Gly32Val) rs2133676747
NM_000208.4(INSR):c.14del (p.Gly5fs) rs1419070784
NM_000208.4(INSR):c.3164C>T (p.Ala1055Val) rs1599874183
NM_000208.4(INSR):c.3234G>A (p.Met1078Ile) rs2144813778
NM_000208.4(INSR):c.3802_3804del (p.Leu1268del) rs2144790591
NM_000209.4(PDX1):c.502A>C (p.Asn168His) rs1555241857
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.3(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.3(MTM1):c.1260+5G>A rs587783769
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu) rs587783772
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) rs398123271
NM_000252.3(MTM1):c.232-16T>G rs2148455901
NM_000252.3(MTM1):c.342+4A>G rs587783820
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.3(MTM1):c.63+3A>T rs587783844
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.3(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del) rs587783862
NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro) rs797045730
NM_000257.4(MYH7):c.4954-15_4958del rs2138640908
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000270.4(PNP):c.331del (p.Leu111fs)
NM_000273.3(GPR143):c.682C>T (p.Gln228Ter) rs2083414866
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg) rs779850564
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) rs797045838
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000286.3(PEX12):c.910_911del (p.Cys304fs) rs867245161
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) rs1554333880
NM_000297.4(PKD2):c.1899-2A>T
NM_000303.3(PMM2):c.448-1_448del rs1414007551
NM_000303.3(PMM2):c.526G>A (p.Gly176Ser) rs1156500366
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu) rs1554898127
NM_000314.8(PTEN):c.394G>A (p.Gly132Ser) rs1859977029
NM_000314.8(PTEN):c.634+5G>T rs138336847
NM_000314.8(PTEN):c.764T>A (p.Val255Glu) rs1564566998
NM_000315.4(PTH):c.46_47delinsAA (p.Ala16Lys) rs2134093283
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.6(ABCC8):c.1819G>A (p.Val607Met)
NM_000352.6(ABCC8):c.2116+1G>T rs1554924540
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro) rs1352191146
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro) rs2133402479
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys) rs1554904936
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg) rs1554904107
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val) rs193922405
NM_000352.6(ABCC8):c.4513G>A (p.Asp1505Asn) rs2133394860
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.6(ABCC8):c.4547A>G (p.Glu1516Gly) rs2133393241
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala) rs764950519
NM_000352.6(ABCC8):c.622G>A (p.Glu208Lys) rs2133680513
NM_000352.6(ABCC8):c.625G>A (p.Asp209Asn) rs2133680501
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749
NM_000368.5(TSC1):c.1675del (p.Cys559fs)
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000372.5(TYR):c.101A>C (p.Glu34Ala) rs1555083355
NM_000372.5(TYR):c.1100A>G (p.His367Arg) rs61754384
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys) rs797046082
NM_000372.5(TYR):c.452T>G (p.Ile151Ser) rs747095957
NM_000372.5(TYR):c.739T>C (p.Cys247Arg) rs367543068
NM_000376.3(VDR):c.1036G>A (p.Val346Met) rs267607169
NM_000376.3(VDR):c.910G>A (p.Gly304Arg) rs747349160
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.11812_11813del (p.Asp3938fs) rs1553382678
NM_000384.3(APOB):c.13025del (p.Pro4342fs) rs797045253
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser) rs2107649591
NM_000388.4(CASR):c.2036T>G (p.Leu679Arg) rs1553768983
NM_000388.4(CASR):c.2404A>C (p.Asn802His) rs2074937924
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp) rs193922436
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter) rs1256856876
NM_000388.4(CASR):c.346G>A (p.Ala116Thr) rs104893691
NM_000406.3(GNRHR):c.156del (p.Phe52fs) rs2109988131
NM_000430.4(PAFAH1B1):c.1009C>G (p.His337Asp) rs587784236
NM_000430.4(PAFAH1B1):c.1193G>A (p.Gly398Asp) rs587784247
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys) rs587784250
NM_000430.4(PAFAH1B1):c.503G>A (p.Cys168Tyr) rs200390886
NM_000430.4(PAFAH1B1):c.569-3del rs797045863
NM_000430.4(PAFAH1B1):c.671+4A>G rs587784279
NM_000430.4(PAFAH1B1):c.671+5G>A rs587784280
NM_000430.4(PAFAH1B1):c.751A>C (p.Ser251Arg) rs587784287
NM_000430.4(PAFAH1B1):c.899A>G (p.Glu300Gly) rs1555527149
NM_000430.4(PAFAH1B1):c.900G>A (p.Glu300=) rs587784291
NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp) rs587784291
NM_000430.4(PAFAH1B1):c.938C>T (p.Ser313Phe) rs587784293
NM_000430.4(PAFAH1B1):c.965T>G (p.Met322Arg) rs587784294
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000463.3(UGT1A1):c.573del (p.Tyr192fs) rs1205477836
NM_000463.3(UGT1A1):c.609_632del (p.His203_Lys211delinsGln) rs1553620849
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) rs72551343
NM_000463.3(UGT1A1):c.996+2_996+5del rs2126030563
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr) rs2146178601
NM_000516.7(GNAS):c.314C>T (p.Thr105Ile) rs767946220
NM_000516.7(GNAS):c.823A>G (p.Ser275Gly) rs2146285803
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000525.4(KCNJ11):c.498C>G (p.Cys166Trp) rs587783669
NM_000525.4(KCNJ11):c.515C>T (p.Ala172Val) rs1426834688
NM_000525.4(KCNJ11):c.536A>C (p.Glu179Ala) rs587783671
NM_000525.4(KCNJ11):c.556C>G (p.His186Asp) rs2133380076
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala) rs797045637
NM_000525.4(KCNJ11):c.866G>T (p.Gly289Val) rs797045637
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_000525.4(KCNJ11):c.944T>C (p.Phe315Ser) rs2133379125
NM_000528.4(MAN2B1):c.436+1G>A rs2145288922
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.1901C>G (p.Thr634Arg) rs1555769544
NM_000540.3(RYR1):c.2870+1G>A rs765241115
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs) rs587784374
NM_000540.3(RYR1):c.5910G>C (p.Gln1970His) rs1555780327
NM_000545.8(HNF1A):c.431T>G (p.Leu144Arg) rs2135832696
NM_000545.8(HNF1A):c.676_678del (p.Lys226del) rs1555211927
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.794A>G (p.Tyr265Cys) rs1555212006
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) rs137853245
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.741_742delinsTT (p.Arg248Trp) rs1555525498
NM_000546.6(TP53):c.920-1G>C rs587781702
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer) rs796053515
NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro) rs776174514
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000760.4(CSF3R):c.610C>T (p.Gln204Ter)
NM_000814.6(GABRB3):c.766C>G (p.Leu256Val) rs1555401942
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000969.5(RPL5):c.506del (p.Gly169fs) rs2100685045
NM_000969.5(RPL5):c.766_781del (p.Lys256fs) rs2100697037
NM_001003694.2(BRPF1):c.2398del (p.Asp800fs) rs2125509502
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001005361.3(DNM2):c.1124T>A (p.Val375Glu) rs587783594
NM_001005361.3(DNM2):c.1567A>G (p.Arg523Gly) rs587783596
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg) rs587783598
NM_001009944.3(PKD1):c.12244_12245del (p.Leu4082fs)
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8624dup (p.Val2876fs)
NM_001014.5(RPS10):c.292dup (p.Arg98fs) rs1765892950
NM_001021.6(RPS17):c.1A>G (p.Met1Val)
NM_001022.4(RPS19):c.302G>A (p.Arg101His) rs2123284131
NM_001022.4(RPS19):c.302G>C (p.Arg101Pro) rs2123284131
NM_001022.4(RPS19):c.356+3A>C rs1555841379
NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp) rs797046100
NM_001029896.2(WDR45):c.342-3C>G rs2147816332
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001029896.2(WDR45):c.966dup (p.Val323fs) rs797046105
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His) rs587784455
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys) rs1553462134
NM_001040142.2(SCN2A):c.4780T>C (p.Trp1594Arg) rs1057518111
NM_001040142.2(SCN2A):c.4841T>C (p.Leu1614Pro) rs797045943
NM_001042413.2(GLIS3):c.728dup (p.Asn244fs) rs2130882939
NM_001042492.3(NF1):c.3058G>T (p.Glu1020Ter) rs2067091885
NM_001042492.3(NF1):c.4947del (p.Pro1650fs) rs2151537841
NM_001048166.1(STIL):c.895T>A (p.Phe299Ile) rs587784452
NM_001079668.3(NKX2-1):c.635A>C (p.Gln212Pro) rs1555349218
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln) rs1556173896
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080517.3(SETD5):c.3631+1G>T rs1553640838
NM_001083961.2(WDR62):c.1312C>T (p.Arg438Cys) rs587784542
NM_001083961.2(WDR62):c.1963T>A (p.Tyr655Asn) rs2145777243
NM_001083961.2(WDR62):c.3348del (p.Phe1117fs) rs797046109
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys) rs2145503179
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001083962.2(TCF4):c.1760C>T (p.Ala587Val) rs1555710523
NM_001083962.2(TCF4):c.1840G>C (p.Ala614Pro) rs587784462
NM_001083962.2(TCF4):c.1871A>C (p.Gln624Pro) rs797046034
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) rs797046035
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg) rs1555796785
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile) rs1554042050
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) rs199422316
NM_001100.4(ACTA1):c.413T>A (p.Ile138Asn) rs587780271
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr) rs587780273
NM_001109809.5(ZFP57):c.722dup (p.Cys241fs)
NM_001110556.2(FLNA):c.319G>A (p.Val107Met) rs2148121877
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr) rs1060501421
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4043G>C (p.Arg1348Pro) rs1057520918
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001128159.3(VPS53):c.88-2A>G rs1335346154
NM_001130438.3(SPTAN1):c.6574A>G (p.Lys2192Glu) rs2131969031
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu) rs1554769022
NM_001134407.3(GRIN2A):c.3701del (p.Phe1234fs) rs886041308
NM_001134673.4(NFIA):c.297dup (p.Pro100fs) rs1553149202
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001141980.3(TP53BP1):c.*3580_*3581del rs2142896980
NM_001164508.2(NEB):c.23836-2A>G rs2153104173
NM_001164508.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_001165963.4(SCN1A):c.2815C>G (p.His939Asp) rs121918736
NM_001165963.4(SCN1A):c.3538T>C (p.Cys1180Arg) rs1574069096
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly) rs121918751
NM_001165963.4(SCN1A):c.719T>C (p.Leu240Pro) rs797045941
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001184.4(ATR):c.1327A>T (p.Arg443Ter) rs2108485039
NM_001184.4(ATR):c.3971_3974del (p.Asp1324fs) rs2108399800
NM_001184.4(ATR):c.5196+1G>A rs1553760567
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile) rs587784299
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) rs1554965669
NM_001195553.2(DCX):c.167G>C (p.Arg56Pro) rs587783525
NM_001195553.2(DCX):c.170T>G (p.Phe57Cys) rs587783526
NM_001195553.2(DCX):c.185A>G (p.Asp62Gly) rs587783528
NM_001195553.2(DCX):c.187C>T (p.Arg63Cys) rs587783529
NM_001195553.2(DCX):c.191A>G (p.Tyr64Cys) rs587783530
NM_001195553.2(DCX):c.195C>A (p.Phe65Leu) rs587783531
NM_001195553.2(DCX):c.226C>T (p.Arg76Cys) rs587783534
NM_001195553.2(DCX):c.299G>A (p.Gly100Glu) rs587783538
NM_001195553.2(DCX):c.313_315dup (p.Tyr105dup) rs797045513
NM_001195553.2(DCX):c.337A>T (p.Ile113Phe) rs587783542
NM_001195553.2(DCX):c.377T>A (p.Val126Asp) rs587783546
NM_001195553.2(DCX):c.380G>A (p.Cys127Tyr) rs587783547
NM_001195553.2(DCX):c.551T>A (p.Ile184Asn) rs587783561
NM_001195553.2(DCX):c.571C>A (p.Pro191Thr) rs587783565
NM_001195553.2(DCX):c.596T>C (p.Leu199Pro) rs587783569
NM_001195553.2(DCX):c.614A>T (p.His205Leu) rs587783572
NM_001195553.2(DCX):c.688A>C (p.Thr230Pro) rs587783581
NM_001195553.2(DCX):c.724T>A (p.Phe242Ile) rs587783582
NM_001195553.2(DCX):c.746T>G (p.Phe249Cys) rs587783584
NM_001195553.2(DCX):c.773G>C (p.Arg258Pro) rs587783587
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001197104.2(KMT2A):c.6158+6T>C rs1555045177
NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro) rs1555047266
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His) rs1553633823
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_001244008.2(KIF1A):c.919C>G (p.Arg307Gly) rs369692236
NM_001253852.3(AP4B1):c.338+5G>A rs1019204290
NM_001253852.3(AP4B1):c.663del (p.Leu222fs) rs776766270
NM_001267550.2(TTN):c.107644del (p.Ser35882fs) rs1179955071
NM_001267550.2(TTN):c.16508T>A (p.Leu5503Ter) rs2154310403
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) rs587780495
NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs) rs754904956
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter) rs368311594
NM_001283009.2(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096
NM_001291415.2(KDM6A):c.2988+2dup rs797045643
NM_001291415.2(KDM6A):c.3507T>G (p.Asn1169Lys) rs2148152270
NM_001291415.2(KDM6A):c.3635G>T (p.Gly1212Val) rs2148169289
NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg) rs797045644
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val) rs786204962
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs) rs867342730
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs) rs1555990958
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val) rs797045540
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001354712.2(THRB):c.917A>C (p.Lys306Thr) rs2148834585
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn) rs1557265435
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001364905.1(LRBA):c.459del (p.Asp154fs) rs2149508421
NM_001367721.1(CASK):c.1155+1G>T
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) rs398122844
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter) rs797045278
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp) rs779003155
NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro) rs797045529
NM_001376.5(DYNC1H1):c.2821G>C (p.Asp941His) rs2141276690
NM_001376.5(DYNC1H1):c.4501A>T (p.Ile1501Phe) rs368821864
NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr) rs1555409836
NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val) rs1555411305
NM_001378452.1(ITPR1):c.731A>G (p.His244Arg) rs1085308010
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001379110.1(SLC9A6):c.370-9_370-5del rs796053290
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) rs1402669959
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001384732.1(CPLANE1):c.8663+2T>C rs2150365416
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001395891.1(CLASP1):c.196-604C>T rs181195449
NM_001414.4(EIF2B1):c.131G>A (p.Gly44Asp)
NM_001478.5(B4GALNT1):c.515_518delinsAC (p.Gly172fs) rs2140249957
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) rs11549196
NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile) rs587780275
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001673.5(ASNS):c.1030+1G>A rs780288372
NM_001673.5(ASNS):c.97C>T (p.Arg33Cys) rs759224338
NM_001754.5(RUNX1):c.319C>T (p.Arg107Cys) rs2057998063
NM_001754.5(RUNX1):c.508G>C (p.Gly170Arg) rs2146360175
NM_001754.5(RUNX1):c.830del (p.Pro277fs) rs2145909826
NM_001754.5(RUNX1):c.999dup (p.Arg334fs) rs2145878129
NM_001759.4(CCND2):c.851T>A (p.Val284Glu) rs777786993
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu) rs1555303720
NM_001846.4(COL4A2):c.3263G>A (p.Gly1088Asp) rs2139533967
NM_001848.3(COL6A1):c.905G>T (p.Gly302Val) rs1556425566
NM_001849.4(COL6A2):c.892G>A (p.Gly298Arg) rs797045478
NM_001904.4(CTNNB1):c.2079del (p.Ala694fs) rs2125650519
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_001931.5(DLAT):c.848_849del (p.Asp283fs) rs782704553
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001987.5(ETV6):c.1132C>T (p.Arg378Ter) rs1947157785
NM_001987.5(ETV6):c.1196G>A (p.Arg399His) rs2136602321
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp) rs1064797083
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln) rs1064797086
NM_002351.5(SH2D1A):c.201+3A>G rs2147531380
NM_002361.4(MAG):c.416-6_418dup rs1555763342
NM_002435.3(MPI):c.602T>C (p.Leu201Pro) rs2064752971
NM_002470.4(MYH3):c.1504T>G (p.Tyr502Asp) rs797045727
NM_002473.6(MYH9):c.257T>A (p.Met86Lys) rs774334908
NM_002473.6(MYH9):c.4271A>T (p.Asp1424Val) rs867593888
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser) rs797045900
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val) rs386134159
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr) rs1555806333
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp) rs1554623112
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln) rs281875188
NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys) rs797045976
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003072.5(SMARCA4):c.3734C>G (p.Ala1245Gly) rs797045984
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys) rs387906857
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1075G>C (p.Ala359Pro) rs1031614168
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.2254C>G (p.His752Asp) rs1555618072
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn) rs797046046
NM_003383.5(VLDLR):c.2T>C (p.Met1Thr) rs797046092
NM_003392.7(WNT5A):c.487G>C (p.Gly163Arg) rs587784562
NM_003466.4(PAX8):c.160A>T (p.Ser54Cys) rs104893660
NM_003482.4(KMT2D):c.10784A>G (p.Tyr3595Cys) rs1555189207
NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp) rs587783700
NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser) rs587783702
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.2317del (p.Gln773fs) rs1565817210
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.4(KMT2D):c.709G>T (p.Glu237Ter) rs1159611979
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg) rs587784327
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) rs1555988382
NM_003560.4(PLA2G6):c.1778C>A (p.Pro593Gln) rs1451486649
NM_003560.4(PLA2G6):c.1973A>C (p.Asn658Thr) rs587784340
NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser) rs1555978219
NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser) rs587784341
NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser) rs587784351
NM_003560.4(PLA2G6):c.2396T>A (p.Leu799His) rs587784354
NM_003560.4(PLA2G6):c.478T>C (p.Cys160Arg) rs587784355
NM_003560.4(PLA2G6):c.4C>A (p.Gln2Lys) rs587784356
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr) rs587784359
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup) rs797045889
NM_003560.4(PLA2G6):c.994T>C (p.Cys332Arg) rs587784364
NM_003611.3(OFD1):c.1654+5G>C rs1555906316
NM_003730.6(RNASET2):c.710dup (p.Leu238fs) rs763295910
NM_003801.4(GPAA1):c.1258C>T (p.Gln420Ter) rs2129946524
NM_004006.3(DMD):c.6614+3310G>T rs797045526
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) rs1553997617
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu) rs587780372
NM_004260.4(RECQL4):c.1852del (p.Arg618fs) rs909588820
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro) rs797045492
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu) rs587783484
NM_004380.3(CREBBP):c.3914+3G>T rs587783485
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro) rs587783488
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser) rs587783492
NM_004380.3(CREBBP):c.4281-11C>G rs587783493
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser) rs797045494
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly) rs587783494
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys) rs587783496
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro) rs587783503
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln) rs797045496
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del) rs587783511
NM_004415.4(DSP):c.6767G>A (p.Gly2256Asp) rs2113701022
NM_004429.5(EFNB1):c.131T>C (p.Phe44Ser) rs1556105849
NM_004429.5(EFNB1):c.523C>T (p.Gln175Ter) rs1556107856
NM_004456.5(EZH2):c.2236A>G (p.Arg746Gly) rs587783627
NM_004523.4(KIF11):c.2059del (p.His687fs) rs1554862197
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004525.3(LRP2):c.6040+4_6040+7del rs2105343563
NM_004656.4(BAP1):c.1588del (p.Val530fs) rs2153226657
NM_004656.4(BAP1):c.272dup (p.Cys91fs) rs2153228146
NM_004656.4(BAP1):c.358A>T (p.Lys120Ter) rs774573926
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004722.4(AP4M1):c.32del (p.Lys11fs) rs797045249
NM_004813.4(PEX16):c.461-2_461del rs2134694006
NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys) rs1553567411
NM_004826.4(ECEL1):c.1797-8G>A rs1553566820
NM_004836.7(EIF2AK3):c.2045G>A (p.Trp682Ter) rs2104412272
NM_004959.5(NR5A1):c.102+1G>C rs2131289951
NM_004959.5(NR5A1):c.1282del (p.Ala428fs) rs2131269203
NM_004959.5(NR5A1):c.614dup (p.Gln206fs)
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) rs1554721235
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_005051.3(QARS1):c.117+1G>T
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu) rs797045698
NM_005159.5(ACTC1):c.344A>G (p.Lys115Arg) rs2140431879
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs) rs779091652
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly) rs587783638
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser) rs786204998
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu) rs1064797186
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr) rs1555321337
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) rs587783643
NM_005257.6(GATA6):c.1367G>A (p.Arg456His) rs387906819
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr) rs797045597
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr) rs121909736
NM_005271.5(GLUD1):c.954A>T (p.Arg318Ser) rs2133796065
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg) rs1553128241
NM_005373.3(MPL):c.1454C>T (p.Thr485Ile) rs974626632
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.4(SMC3):c.2005T>G (p.Tyr669Asp) rs776056911
NM_005445.4(SMC3):c.2338G>C (p.Glu780Gln) rs587784427
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro) rs797045996
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005445.4(SMC3):c.856GAA[3] (p.Glu287dup) rs797045997
NM_005515.4(MNX1):c.780C>A (p.Phe260Leu) rs2134840114
NM_005515.4(MNX1):c.832C>T (p.Leu278Phe) rs370066878
NM_005515.4(MNX1):c.885A>C (p.Lys295Asn) rs1064794653
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu) rs375737188
NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del) rs1555475375
NM_005861.4(STUB1):c.721C>G (p.Arg241Gly) rs760424025
NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter) rs369521689
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_006005.3(WFS1):c.1237TTC[1] (p.Phe414del) rs797046112
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val) rs587784481
NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala) rs1555162294
NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val) rs587784482
NM_006009.4(TUBA1A):c.1204C>A (p.Arg402Ser) rs587784483
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) rs587784484
NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala) rs1555162242
NM_006009.4(TUBA1A):c.152C>T (p.Thr51Ile) rs587784485
NM_006009.4(TUBA1A):c.162T>A (p.Ser54Arg) rs587784486
NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly) rs797046072
NM_006009.4(TUBA1A):c.368G>A (p.Arg123His) rs1555162456
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg) rs587784492
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) rs587784494
NM_006009.4(TUBA1A):c.956A>G (p.Tyr319Cys) rs2121242769
NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu) rs797046073
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr) rs587784497
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro) rs797045264
NM_006031.6(PCNT):c.2155-21_2186del rs1555959737
NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer) rs2147963975
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter) rs1474939581
NM_006086.4(TUBB3):c.212G>C (p.Gly71Ala) rs2151092293
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly) rs1057519927
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del) rs797045991
NM_006306.4(SMC1A):c.1267C>A (p.Gln423Lys) rs587784404
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.4(SMC1A):c.1754T>C (p.Leu585Pro) rs587784406
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del) rs797045992
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.4(SMC1A):c.2327T>A (p.Val776Glu) rs587784410
NM_006306.4(SMC1A):c.3070A>T (p.Asn1024Tyr) rs587784415
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.4(SMC1A):c.3557T>C (p.Val1186Ala) rs587784419
NM_006306.4(SMC1A):c.421G>A (p.Glu141Lys) rs587784420
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.4(SLC2A1):c.426G>T (p.Met142Ile) rs2124450183
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.325T>C (p.Trp109Arg) rs2147834066
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu) rs104894936
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006579.3(EBP):c.201_203dup (p.Cys67dup) rs797045542
NM_006579.3(EBP):c.204G>T (p.Trp68Cys) rs587783601
NM_006579.3(EBP):c.214T>C (p.Cys72Arg) rs587783602
NM_006579.3(EBP):c.218G>A (p.Gly73Glu) rs587783603
NM_006579.3(EBP):c.299T>C (p.Leu100Pro) rs587783605
NM_006579.3(EBP):c.303G>T (p.Trp101Cys) rs587783607
NM_006579.3(EBP):c.311A>G (p.Tyr104Cys) rs587783610
NM_006579.3(EBP):c.314C>A (p.Ala105Asp) rs587783611
NM_006579.3(EBP):c.320G>A (p.Gly107Glu) rs587783612
NM_006579.3(EBP):c.331T>C (p.Tyr111His) rs587783614
NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly) rs797045545
NM_006579.3(EBP):c.469+3A>C rs2147156561
NM_006579.3(EBP):c.481G>A (p.Gly161Arg) rs587783617
NM_006579.3(EBP):c.527A>G (p.His176Arg) rs587783618
NM_006579.3(EBP):c.588G>T (p.Trp196Cys) rs2147157078
NM_006579.3(EBP):c.632T>G (p.Leu211Arg) rs587783619
NM_006772.3(SYNGAP1):c.3722_3723del (p.Leu1241fs) rs1554122735
NM_006946.4(SPTBN2):c.1042A>G (p.Asn348Asp) rs1554987311
NM_006946.4(SPTBN2):c.1043A>T (p.Asn348Ile) rs797046005
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr) rs1554986345
NM_006946.4(SPTBN2):c.181A>G (p.Lys61Glu) rs797046006
NM_006950.3(SYN1):c.60del (p.Tyr21fs) rs2147933547
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg) rs1446265632
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_007129.5(ZIC2):c.968A>G (p.His323Arg) rs2152162755
NM_007175.8(ERLIN2):c.557_557+10delinsCCTGGCTGTGACCTGGGCTGTGA rs1554517382
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs) rs2145803112
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1462dup (p.Ala488fs) rs1343679884
NM_007289.4(MME):c.1272del (p.Arg425fs) rs1060499935
NM_007289.4(MME):c.1400dup (p.Arg468fs) rs751149568
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) rs781053477
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) rs2148711383
NM_012309.5(SHANK2):c.1987C>T (p.Gln663Ter) rs2134263074
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter) rs929007085
NM_013328.4(PYCR2):c.139-2A>C rs1553500497
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer) rs2100421727
NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs) rs1555356398
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014009.4(FOXP3):c.434C>T (p.Ala145Val) rs782528935
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr) rs1555762722
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014363.6(SACS):c.3309dup (p.Val1104fs) rs2137636629
NM_014908.4(DOLK):c.1112T>A (p.Ile371Asn) rs2131127437
NM_014908.4(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014915.3(ANKRD26):c.-119C>G rs1554800065
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) rs797045068
NM_015100.4(POGZ):c.2604del (p.Asn869fs) rs1553213126
NM_015272.5(RPGRIP1L):c.1104-2A>G
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs) rs797045918
NM_015272.5(RPGRIP1L):c.632T>A (p.Leu211Ter)
NM_015346.4(ZFYVE26):c.6384C>A (p.Tyr2128Ter) rs2140192948
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp) rs1557680919
NM_015450.3(POT1):c.1572G>A (p.Trp524Ter) rs1794703569
NM_015450.3(POT1):c.9+1G>C
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015836.4(WARS2):c.797del (p.Pro266fs) rs746478253
NM_015922.3(NSDHL):c.1114del (p.Val372fs) rs587784222
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys) rs587784223
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016222.4(DDX41):c.1016G>T (p.Arg339Leu) rs774698335
NM_016222.4(DDX41):c.1354del (p.Leu452fs)
NM_016222.4(DDX41):c.1474dup (p.Ala492fs) rs1188549864
NM_016222.4(DDX41):c.1721del (p.Leu574fs) rs2127435669
NM_016222.4(DDX41):c.434+1G>C rs1170971274
NM_016222.4(DDX41):c.435-2_435-1delinsCA rs869320762
NM_016239.4(MYO15A):c.9303+1G>T rs876657708
NM_017654.4(SAMD9):c.1853T>C (p.Ile618Thr) rs2116418899
NM_017696.3(MCM9):c.304+1G>A
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys) rs587783445
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_018051.5(DYNC2I1):c.1162del (p.Cys388fs) rs1554460624
NM_018082.6(POLR3B):c.1612_1614del (p.Leu538del) rs797045895
NM_018136.5(ASPM):c.5422_5425del (p.Leu1808fs) rs1403868262
NM_018136.5(ASPM):c.5532T>G (p.Tyr1844Ter) rs797045314
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup) rs776528706
NM_018486.3(HDAC8):c.556G>A (p.Glu186Lys) rs797045612
NM_018486.3(HDAC8):c.770C>A (p.Pro257His) rs797045613
NM_018486.3(HDAC8):c.862C>T (p.Leu288Phe) rs2047963148
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs) rs756696262
NM_020320.5(RARS2):c.370del (p.Gln124fs) rs1554203400
NM_020435.4(GJC2):c.1175C>G (p.Ser392Cys) rs1356633840
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) rs797045950
NM_020533.3(MCOLN1):c.1538del (p.Phe513fs) rs2146026152
NM_020549.5(CHAT):c.635T>A (p.Val212Asp) rs1554802792
NM_020745.4(AARS2):c.387CTT[1] (p.Phe131del) rs1561943859
NM_020745.4(AARS2):c.984C>G (p.Ile328Met) rs2153355427
NM_020812.4(DOCK6):c.5764C>T (p.Gln1922Ter) rs2147691056
NM_020975.6(RET):c.3148C>T (p.Arg1050Ter) rs767479170
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) rs1555499800
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_021005.4(NR2F2):c.931G>A (p.Glu311Lys)
NM_021922.3(FANCE):c.164G>A (p.Trp55Ter) rs2150885915
NM_022095.4(ZNF335):c.2515_2518dup (p.Thr840fs) rs797046124
NM_022124.6(CDH23):c.4104+1G>T rs2132826354
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs) rs2149843640
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser) rs398124378
NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr) rs587784135
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg) rs1554200207
NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr) rs587784140
NM_022455.5(NSD1):c.5390T>C (p.Leu1797Pro) rs587784144
NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro) rs587784146
NM_022455.5(NSD1):c.5471A>G (p.Asp1824Gly) rs587784150
NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro) rs587784155
NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser) rs587784156
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val) rs587784166
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys) rs587784167
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser) rs587784180
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.5(NSD1):c.6418A>G (p.Lys2140Glu) rs587784196
NM_022455.5(NSD1):c.6485A>C (p.His2162Pro) rs587784204
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.5(NSD1):c.6542_6544dup (p.Ser2181_Phe2182insSer) rs797045833
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_022455.5(NSD1):c.6630_6644del (p.Asn2211_Pro2215del) rs587784211
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr) rs1554162301
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_023077.3(COA7):c.107-2A>G rs2149904888
NM_023110.3(FGFR1):c.2059G>C (p.Gly687Arg) rs727505376
NM_023110.3(FGFR1):c.809G>A (p.Gly270Asp) rs2150822504
NM_024426.6(WT1):c.1448-20_1448-1del rs2132900093
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs) rs1554496609
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu) rs587783741
NM_024596.5(MCPH1):c.40G>A (p.Glu14Lys) rs2129550760
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024740.2(ALG9):c.1225del (p.Arg409fs)
NM_024747.6(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del) rs1554908290
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys) rs887386390
NM_025000.4(DCAF17):c.1027del (p.Asp343fs)
NM_025099.6(CTC1):c.1064_1065del (p.Leu355fs) rs2151522778
NM_025099.6(CTC1):c.131_134del (p.Asp44fs) rs1250113146
NM_025099.6(CTC1):c.3594C>A (p.Cys1198Ter) rs2151496734
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del) rs797046052
NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter) rs767380935
NM_030773.4(TUBB1):c.230G>A (p.Arg77Gln) rs572988631
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser) rs1057517996
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter) rs1555714808
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032415.7(CARD11):c.3127G>T (p.Glu1043Ter) rs757553187
NM_032444.4(SLX4):c.951-1G>T rs750371433
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1054T>C (p.Cys352Arg) rs797045591
NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly) rs1426175410
NM_032638.5(GATA2):c.1129T>G (p.Tyr377Asp) rs2107668593
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) rs1576744529
NM_032638.5(GATA2):c.857C>T (p.Ala286Val) rs797045592
NM_032638.5(GATA2):c.995_996insG (p.Ile333fs) rs2107670326
NM_033163.5(FGF8):c.628_629dup (p.His211fs) rs1554834303
NM_130839.5(UBE3A):c.1694G>A (p.Gly565Glu) rs587784516
NM_130839.5(UBE3A):c.1748A>G (p.Asp583Gly) rs587784518
NM_130839.5(UBE3A):c.1823A>G (p.Gln608Arg) rs587782919
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe) rs587783097
NM_130839.5(UBE3A):c.448_459del (p.Ile150_Val153del) rs587784531
NM_133259.4(LRPPRC):c.1678-1G>A rs1351402169
NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu) rs587783887
NM_133433.4(NIPBL):c.1496-8A>G rs797045747
NM_133433.4(NIPBL):c.201_212del (p.His67_Asn70del) rs587783893
NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro) rs587783895
NM_133433.4(NIPBL):c.3122-2A>G rs587783918
NM_133433.4(NIPBL):c.3137C>A (p.Ser1046Ter) rs1554019663
NM_133433.4(NIPBL):c.3304+5G>A rs80358356
NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln) rs587783921
NM_133433.4(NIPBL):c.345A>G (p.Arg115=) rs587783922
NM_133433.4(NIPBL):c.358+5G>C rs587783928
NM_133433.4(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del) rs587783931
NM_133433.4(NIPBL):c.3818T>G (p.Ile1273Ser) rs587783932
NM_133433.4(NIPBL):c.3855+5G>A rs80358378
NM_133433.4(NIPBL):c.3856-7_3856-5del rs797045757
NM_133433.4(NIPBL):c.4320+2dup rs797045758
NM_133433.4(NIPBL):c.4421G>C (p.Arg1474Thr) rs587783947
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.4810_4817dup (p.Arg1606_Val1607insLeuTer) rs2149692104
NM_133433.4(NIPBL):c.5327A>T (p.Gln1776Leu) rs587783966
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln) rs80358366
NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly) rs587783977
NM_133433.4(NIPBL):c.5566A>G (p.Arg1856Gly) rs80358373
NM_133433.4(NIPBL):c.5732A>C (p.Gln1911Pro) rs587783982
NM_133433.4(NIPBL):c.5921TTG[1] (p.Val1975del) rs587783987
NM_133433.4(NIPBL):c.5923G>T (p.Val1975Phe) rs587783986
NM_133433.4(NIPBL):c.6158T>C (p.Leu2053Pro) rs587783997
NM_133433.4(NIPBL):c.6170T>C (p.Leu2057Pro) rs587783998
NM_133433.4(NIPBL):c.6242G>T (p.Gly2081Val) rs587784000
NM_133433.4(NIPBL):c.6250G>T (p.Val2084Leu) rs587784002
NM_133433.4(NIPBL):c.6266T>G (p.Val2089Gly) rs587784003
NM_133433.4(NIPBL):c.6316G>C (p.Val2106Leu) rs587784004
NM_133433.4(NIPBL):c.6343G>A (p.Gly2115Ser) rs587784007
NM_133433.4(NIPBL):c.6362_6364del (p.Lys2121del) rs587784008
NM_133433.4(NIPBL):c.64+5G>A rs587784011
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6629AAG[1] (p.Glu2211del) rs587784019
NM_133433.4(NIPBL):c.6760_6761del (p.Asp2254fs) rs2149737142
NM_133433.4(NIPBL):c.6800T>G (p.Met2267Arg) rs797045779
NM_133433.4(NIPBL):c.6935G>T (p.Gly2312Val) rs587784025
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7141G>A (p.Gly2381Ser) rs587784035
NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser) rs80358384
NM_133433.4(NIPBL):c.7306G>A (p.Ala2436Thr) rs587784039
NM_133433.4(NIPBL):c.7336_7338del (p.Pro2446del) rs587784040
NM_133433.4(NIPBL):c.8173G>C (p.Ala2725Pro) rs587784053
NM_133433.4(NIPBL):c.8296_8300delinsTT (p.Ile2766_Lys2767delinsLeu) rs797045788
NM_138386.3(NAF1):c.1033+1G>A
NM_138386.3(NAF1):c.1033+1G>T rs2110894530
NM_138386.3(NAF1):c.691A>T (p.Lys231Ter)
NM_138711.6(PPARG):c.1262T>C (p.Leu421Pro) rs1553653993
NM_138711.6(PPARG):c.380A>G (p.Glu127Gly) rs1553643326
NM_138711.6(PPARG):c.491G>A (p.Arg164Gln) rs148195788
NM_138711.6(PPARG):c.545G>A (p.Arg182Gln) rs1553647989
NM_138711.6(PPARG):c.881T>C (p.Ile294Thr) rs1378972597
NM_138711.6(PPARG):c.920T>C (p.Leu307Pro) rs2125284643
NM_139058.3(ARX):c.1121T>A (p.Val374Asp) rs587783183
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys) rs587783184
NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup) rs1556056131
NM_144508.5(KNL1):c.4745_4746delinsC (p.Leu1582fs) rs1555420891
NM_144508.5(KNL1):c.694del (p.Asp232fs) rs797045430
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_152263.4(TPM3):c.734G>T (p.Arg245Ile) rs797046047
NM_152296.5(ATP1A3):c.1004C>A (p.Thr335Lys) rs1131691940
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2401G>C (p.Asp801His) rs80356537
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152703.5(SAMD9L):c.4224dup (p.Gln1409fs) rs759143613
NM_152722.5(HEPACAM):c.285T>G (p.Tyr95Ter) rs2135400018
NM_152743.4(BRAT1):c.1990C>T (p.Gln664Ter) rs2128384174
NM_152783.5(D2HGDH):c.1306+2T>C rs797045507
NM_153704.6(TMEM67):c.758G>A (p.Cys253Tyr) rs765536334
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) rs267607644
NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe) rs1553265739
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del) rs1553265761
NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro) rs267607576
NM_170707.4(LMNA):c.1396A>G (p.Asn466Asp) rs2102893640
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer) rs1553264624
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.790_792del (p.Glu264del) rs1553265369
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn) rs267607591
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro) rs730882262
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val) rs797045638
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_173477.5(USH1G):c.1306C>T (p.Arg436Ter) rs755908331
NM_173495.3(PTCHD1):c.893G>A (p.Trp298Ter) rs1555912102
NM_173543.3(DZIP1L):c.1268_1269del (p.Glu423fs)
NM_173560.4(RFX6):c.541C>T (p.Arg181Trp) rs587780440
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) rs1553847993
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.225-1G>C rs2146375350
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del) rs1280663753
NM_175914.5(HNF4A):c.614A>C (p.His205Pro) rs2146438016
NM_175914.5(HNF4A):c.617T>A (p.Leu206Gln) rs2146438052
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro) rs1555816654
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992
NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu) rs587784498
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg) rs797046075
NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu) rs1554126925
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met) rs1057520391
NM_178012.5(TUBB2B):c.5G>A (p.Arg2His) rs2113820430
NM_178012.5(TUBB2B):c.673C>T (p.Leu225Phe) rs2113819161
NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys) rs1554126886
NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe) rs587784502
NM_178014.4(TUBB):c.682C>A (p.Leu228Ile) rs1057524718
NM_178014.4(TUBB):c.897G>A (p.Met299Ile) rs2127749712
NM_178161.3(PTF1A):c.532del (p.Ser178fs) rs2131680472
NM_181523.3(PIK3R1):c.1106C>T (p.Thr369Ile) rs587784325
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
NM_182961.4(SYNE1):c.1933-2A>G rs1554753528
NM_183050.4(BCKDHB):c.1119del (p.Phe374fs) rs797045411
NM_194318.4(B3GLCT):c.1045G>A (p.Asp349Asn) rs2137881468
NM_198253.3(TERT):c.1620C>G (p.Ile540Met) rs797046041
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) rs1194223999
NM_198253.3(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.3(TERT):c.2058C>G (p.Ile686Met) rs745590324
NM_198253.3(TERT):c.230T>C (p.Leu77Pro) rs1751271544
NM_198253.3(TERT):c.2314T>C (p.Tyr772His) rs1749098222
NM_198253.3(TERT):c.2329G>A (p.Val777Met) rs1554040129
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.3(TERT):c.3157+1G>T rs2126562296
NM_198253.3(TERT):c.347C>T (p.Thr116Ile) rs1751259223
NM_198525.3(KIF7):c.3508C>T (p.Gln1170Ter) rs2141993907
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_199242.3(UNC13D):c.79dup (p.Arg27fs) rs1244919509
NM_201525.4(ADGRG1):c.1850G>C (p.Trp617Ser) rs587783656
NM_207346.3(TSEN54):c.1511T>C (p.Leu504Pro) rs587784477
NM_213622.4(STAMBP):c.1119-6T>G rs797046015
NM_213622.4(STAMBP):c.232C>T (p.Arg78Ter) rs1174684647
NR_001566.1(TERC):n.-58C>T rs2108183554
NR_001566.1(TERC):n.108del rs2108183267
NR_001566.1(TERC):n.180C>G rs199422276
NR_001566.1(TERC):n.306T>G rs1553915591
NR_001566.1(TERC):n.357_365del rs1415168771
NR_001566.1(TERC):n.443C>A rs1553915577
NR_001566.1(TERC):n.54A>C rs1288561509

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