ClinVar Miner

List of variants reported for not provided by Gharavi Laboratory, Columbia University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1560
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_004525.3(LRP2):c.6473A>C (p.Asn2158Thr) rs34052957 0.00157
NM_001038.6(SCNN1A):c.-55+2T>C rs772498945 0.00122
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs) rs386833873 0.00089
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001126108.2(SLC12A3):c.2470T>A (p.Ser824Thr) rs146845953 0.00038
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_000516.7(GNAS):c.-176G>T rs1159136778 0.00030
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_004064.5(CDKN1B):c.-80C>T rs551236750 0.00021
NM_175875.5(SIX5):c.472G>A (p.Ala158Thr) rs80356461 0.00020
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000216.4(ANOS1):c.555G>C (p.Lys185Asn) rs140670828 0.00019
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser) rs121434391 0.00018
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204 0.00018
NM_004646.4(NPHS1):c.559G>A (p.Val187Met) rs199646884 0.00016
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00016
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr) rs201220208 0.00014
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_019892.6(INPP5E):c.1178T>C (p.Val393Ala) rs930286679 0.00013
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn) rs139100972 0.00011
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000216.4(ANOS1):c.1699G>A (p.Gly567Ser) rs142455173 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_001110556.2(FLNA):c.2147G>A (p.Gly716Asp) rs782697176 0.00009
NM_001110556.2(FLNA):c.2609A>G (p.His870Arg) rs200679107 0.00009
NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr) rs138061418 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_004787.4(SLIT2):c.1697G>A (p.Ser566Asn) rs200151302 0.00009
NM_014875.3(KIF14):c.4506_4507del (p.Glu1502fs) rs759885256 0.00009
NM_014875.3(KIF14):c.4509del (p.Phe1503_Leu1504insTer) rs774753490 0.00009
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val) rs761575154 0.00008
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala) rs200277422 0.00008
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg) rs368570508 0.00008
NM_181712.5(KANK4):c.1342C>T (p.Arg448Ter) rs370065609 0.00007
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln) rs138007561 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val) rs199474740 0.00006
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) rs202119350 0.00006
NM_004341.5(CAD):c.2870G>T (p.Gly957Val) rs999093646 0.00006
NM_005529.7(HSPG2):c.10787G>A (p.Cys3596Tyr) rs747227079 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_016292.3(TRAP1):c.320C>G (p.Ser107Ter) rs1199330194 0.00006
NM_030787.4(CFHR5):c.1331-2A>G rs148301128 0.00006
NM_033380.3(COL4A5):c.4898C>T (p.Ala1633Val) rs982188184 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) rs1368105372 0.00005
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg) rs765315726 0.00005
NM_024753.5(TTC21B):c.2913dup (p.Val972fs) rs867205119 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val) rs201504575 0.00004
NM_000551.4(VHL):c.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_001166114.2(PNPLA6):c.3122T>C (p.Leu1041Ser) rs1291359628 0.00004
NM_001235.5(SERPINH1):c.436T>C (p.Phe146Leu) rs972547822 0.00004
NM_001395656.1(ROBO2):c.3676G>A (p.Asp1226Asn) rs1485782313 0.00004
NM_002473.6(MYH9):c.5630G>A (p.Arg1877Gln) rs759777823 0.00004
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln) rs570278423 0.00004
NM_004064.5(CDKN1B):c.25G>A (p.Gly9Arg) rs755225286 0.00004
NM_004621.6(TRPC6):c.2534T>G (p.Leu845Arg) rs1165923760 0.00004
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro) rs369656458 0.00004
NM_014140.4(SMARCAL1):c.863-2A>G rs761546902 0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val) rs780761368 0.00004
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter) rs370210428 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg) rs753347128 0.00004
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln) rs121918219 0.00004
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000291.4(PGK1):c.116G>A (p.Arg39Lys) rs1310556137 0.00003
NM_000291.4(PGK1):c.736A>G (p.Lys246Glu) rs144399762 0.00003
NM_000441.2(SLC26A4):c.1301C>A (p.Ala434Asp) rs1035397261 0.00003
NM_000455.5(STK11):c.566C>T (p.Thr189Ile) rs587781515 0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs) rs894289737 0.00003
NM_000478.6(ALPL):c.1373A>G (p.Asp458Gly) rs1428657470 0.00003
NM_000478.6(ALPL):c.610A>G (p.Ile204Val) rs374558572 0.00003
NM_000486.6(AQP2):c.62T>C (p.Leu21Pro) rs1393300849 0.00003
NM_000537.4(REN):c.320C>T (p.Ser107Leu) rs1409715151 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_001002295.2(GATA3):c.260C>G (p.Pro87Arg) rs1241255776 0.00003
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_001105247.2(ARMC5):c.1084C>T (p.Arg362Trp) rs1385397608 0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677 0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106 0.00003
NM_001253.4(CDC5L):c.2014C>T (p.Pro672Ser) rs765864584 0.00003
NM_001395656.1(ROBO2):c.2402G>A (p.Arg801Gln) rs201678507 0.00003
NM_001845.6(COL4A1):c.859-8_859del rs1360123079 0.00003
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter) rs74315370 0.00003
NM_003638.3(ITGA8):c.2139T>G (p.Cys713Trp) rs989350537 0.00003
NM_003982.4(SLC7A7):c.1195G>A (p.Gly399Ser) rs1468788152 0.00003
NM_004380.3(CREBBP):c.4213G>A (p.Val1405Met) rs140133512 0.00003
NM_004525.3(LRP2):c.7081C>A (p.Pro2361Thr) rs776174341 0.00003
NM_005257.6(GATA6):c.1171G>A (p.Val391Met) rs1043497891 0.00003
NM_014270.5(SLC7A9):c.325G>A (p.Ala109Thr) rs750849536 0.00003
NM_014813.3(LRIG2):c.1237G>T (p.Glu413Ter) rs1399525051 0.00003
NM_015910.7(WDPCP):c.277A>T (p.Lys93Ter) rs1188000133 0.00003
NM_020041.3(SLC2A9):c.1114-1G>C rs1447625985 0.00003
NM_020117.11(LARS1):c.1588T>C (p.Trp530Arg) rs1330294601 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys) rs748714111 0.00003
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000334.4(SCN4A):c.757G>A (p.Val253Met) rs772899378 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001077365.2(POMT1):c.880G>T (p.Gly294Cys) rs145395372 0.00002
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu) rs782434140 0.00002
NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met) rs782352193 0.00002
NM_001199107.2(TBC1D24):c.1675C>T (p.Gln559Ter) rs1253505916 0.00002
NM_002473.6(MYH9):c.3742A>G (p.Lys1248Glu) rs1276028189 0.00002
NM_004589.4(SCO1):c.346A>G (p.Lys116Glu) rs1158150053 0.00002
NM_004621.6(TRPC6):c.1079G>A (p.Arg360His) rs777715086 0.00002
NM_005251.3(FOXC2):c.1460T>C (p.Leu487Pro) rs781751310 0.00002
NM_016292.3(TRAP1):c.499G>A (p.Glu167Lys) rs1300959241 0.00002
NM_016327.3(UPB1):c.364+1G>A rs1019345080 0.00002
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg) rs1355873337 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961 0.00002
NM_175914.5(HNF4A):c.658G>A (p.Val220Met) rs202105574 0.00002
NM_000053.4(ATP7B):c.3571A>G (p.Met1191Val) rs1566452960 0.00001
NM_000053.4(ATP7B):c.811T>C (p.Cys271Arg) rs1349622044 0.00001
NM_000064.4(C3):c.1433G>T (p.Arg478Leu) rs747968673 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.3398T>C (p.Ile1133Thr) rs1558061864 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) rs757045433 0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg) rs769683665 0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000091.5(COL4A3):c.3820G>A (p.Gly1274Ser) rs1559914789 0.00001
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123 0.00001
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs) rs1162601696 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000092.5(COL4A4):c.4412A>C (p.His1471Pro) rs762796207 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000093.5(COL5A1):c.4955G>C (p.Gly1652Ala) rs1206652736 0.00001
NM_000098.3(CPT2):c.984T>A (p.Asp328Glu) rs1408974808 0.00001
NM_000124.4(ERCC6):c.2293T>C (p.Phe765Leu) rs1157637875 0.00001
NM_000135.4(FANCA):c.1652T>C (p.Val551Ala) rs1331541085 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000186.4(CFH):c.2573G>A (p.Trp858Ter) rs1315461639 0.00001
NM_000213.5(ITGB4):c.1792T>C (p.Cys598Arg) rs1179032756 0.00001
NM_000213.5(ITGB4):c.373C>T (p.Pro125Ser) rs1313828612 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000249.4(MLH1):c.2050T>C (p.Tyr684His) rs1386031101 0.00001
NM_000255.4(MMUT):c.1079A>G (p.Glu360Gly) rs1442661766 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040 0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 0.00001
NM_000314.8(PTEN):c.425G>A (p.Arg142Gln) rs753630034 0.00001
NM_000325.6(PITX2):c.902T>G (p.Phe301Cys) rs1184603292 0.00001
NM_000334.4(SCN4A):c.3936G>C (p.Met1312Ile) rs1567817375 0.00001
NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln) rs1210934866 0.00001
NM_000334.4(SCN4A):c.706C>G (p.Leu236Val) rs1253475807 0.00001
NM_000342.4(SLC4A1):c.229G>A (p.Glu77Lys) rs1567834917 0.00001
NM_000368.5(TSC1):c.1943T>C (p.Val648Ala) rs771341361 0.00001
NM_000368.5(TSC1):c.397G>A (p.Val133Ile) rs118203381 0.00001
NM_000373.4(UMPS):c.1285G>C (p.Gly429Arg) rs121917891 0.00001
NM_000373.4(UMPS):c.286A>G (p.Arg96Gly) rs121917890 0.00001
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291 0.00001
NM_000431.4(MVK):c.614A>G (p.Asn205Ser) rs767853272 0.00001
NM_000435.3(NOTCH3):c.1076C>G (p.Pro359Arg) rs1487017745 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956 0.00001
NM_000455.5(STK11):c.94A>G (p.Thr32Ala) rs755210880 0.00001
NM_000458.4(HNF1B):c.1414G>A (p.Val472Ile) rs762841746 0.00001
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter) rs768976020 0.00001
NM_000503.6(EYA1):c.1483T>A (p.Cys495Ser) rs1563630587 0.00001
NM_000522.5(HOXA13):c.960G>C (p.Arg320Ser) rs1190905313 0.00001
NM_000523.4(HOXD13):c.674C>G (p.Ser225Cys) rs367674921 0.00001
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268 0.00001
NM_001003841.3(SLC6A19):c.728del (p.Thr243fs) rs1561165786 0.00001
NM_001005242.3(PKP2):c.837_838del (p.Val280fs) rs772220644 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.7183A>T (p.Asn2395Tyr) rs763140198 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001034116.2(EIF2B4):c.1191+2T>C rs751867352 0.00001
NM_001040716.2(PC):c.920C>T (p.Ala307Val) rs1247838963 0.00001
NM_001041.4(SI):c.3896C>A (p.Ala1299Glu) rs1559990008 0.00001
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln) rs543387071 0.00001
NM_001042492.3(NF1):c.4252A>G (p.Ile1418Val) rs369345045 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro) rs587782686 0.00001
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00001
NM_001110556.2(FLNA):c.7520T>C (p.Ile2507Thr) rs863223626 0.00001
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001126108.2(SLC12A3):c.2623G>A (p.Glu875Lys) rs1441228030 0.00001
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp) rs759426055 0.00001
NM_001127649.3(PEX26):c.529G>A (p.Ala177Thr) rs1466173209 0.00001
NM_001142285.2(RPS24):c.391-2A>T rs1228580232 0.00001
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter) rs1554728698 0.00001
NM_001177701.3(IFT27):c.234+1G>A rs1159774355 0.00001
NM_001257281.2(DIS3L2):c.1625dup (p.His542fs) rs757880754 0.00001
NM_001358921.2(COQ2):c.225dup (p.Arg76fs) rs1309293625 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001374828.1(ARID1B):c.3236-1G>A rs752642190 0.00001
NM_001379500.1(COL18A1):c.1765G>A (p.Gly589Arg) rs906225803 0.00001
NM_001457.4(FLNB):c.7640T>C (p.Ile2547Thr) rs1341381124 0.00001
NM_001615.4(ACTG2):c.183C>G (p.Ser61Arg) rs1220479216 0.00001
NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs) rs782152033 0.00001
NM_001985.3(ETFB):c.58-53_58-52insG rs141529162 0.00001
NM_002473.6(MYH9):c.1271G>A (p.Arg424Gln) rs1321659356 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002894.3(RBBP8):c.2692T>C (p.Ter898Gln) rs1409422493 0.00001
NM_002968.3(SALL1):c.2909T>C (p.Leu970Ser) rs1461765489 0.00001
NM_002968.3(SALL1):c.602A>G (p.Gln201Arg) rs775143619 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003041.4(SLC5A2):c.890T>C (p.Ile297Thr) rs1055355510 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu) rs780462125 0.00001
NM_003482.4(KMT2D):c.5248_5250del (p.Glu1750del) rs1403096314 0.00001
NM_004064.5(CDKN1B):c.13C>T (p.Arg5Ter) rs1349668409 0.00001
NM_004070.4(CLCNKA):c.73del (p.Cys25fs) rs1557446844 0.00001
NM_004341.5(CAD):c.1730T>C (p.Leu577Pro) rs1219263474 0.00001
NM_004341.5(CAD):c.3884G>A (p.Arg1295His) rs1211373184 0.00001
NM_004525.3(LRP2):c.5716G>T (p.Asp1906Tyr) rs1559022264 0.00001
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp) rs768210838 0.00001
NM_004621.6(TRPC6):c.830A>G (p.Tyr277Cys) rs534941786 0.00001
NM_004924.6(ACTN4):c.497A>G (p.Lys166Arg) rs754477143 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_005506.4(SCARB2):c.170C>T (p.Pro57Leu) rs1560716152 0.00001
NM_005529.7(HSPG2):c.11716C>T (p.Arg3906Ter) rs769720495 0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys) rs587777794 0.00001
NM_006918.5(SC5D):c.649C>T (p.Gln217Ter) rs370879876 0.00001
NM_012203.2(GRHPR):c.748A>T (p.Asn250Tyr) rs1284983653 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_014639.4(SKIC3):c.188A>G (p.Tyr63Cys) rs1217179767 0.00001
NM_014875.3(KIF14):c.1725_1746+36del rs1558085373 0.00001
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu) rs1487910110 0.00001
NM_015330.6(SPECC1L):c.2561-1del rs1569426221 0.00001
NM_015375.3(DSTYK):c.2528C>T (p.Ser843Leu) rs778586547 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_015599.3(PGM3):c.1126A>C (p.Thr376Pro) rs1562417226 0.00001
NM_015631.6(TCTN3):c.627+1G>A rs1566074908 0.00001
NM_015922.3(NSDHL):c.901T>C (p.Tyr301His) rs144110486 0.00001
NM_016292.3(TRAP1):c.691T>C (p.Trp231Arg) rs1478013745 0.00001
NM_016327.3(UPB1):c.509A>G (p.Asp170Gly) rs1568989805 0.00001
NM_016341.4(PLCE1):c.2960A>G (p.His987Arg) rs762245091 0.00001
NM_016932.5(SIX2):c.859G>A (p.Val287Met) rs773807534 0.00001
NM_017780.4(CHD7):c.5446T>A (p.Cys1816Ser) rs1563657431 0.00001
NM_017946.4(FKBP14):c.208_209del (p.Asn70fs) rs1403596738 0.00001
NM_018051.5(DYNC2I1):c.990+1G>A rs1563114276 0.00001
NM_018668.5(VPS33B):c.1192C>T (p.Arg398Cys) rs943813904 0.00001
NM_018668.5(VPS33B):c.96+1G>T rs1567232168 0.00001
NM_018979.4(WNK1):c.7092del (p.Ser2365fs) rs1565626117 0.00001
NM_019088.4(PAF1):c.28C>T (p.Gln10Ter) rs1396158186 0.00001
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224 0.00001
NM_019892.6(INPP5E):c.877T>G (p.Tyr293Asp) rs1241112128 0.00001
NM_020401.4(NUP107):c.2176C>T (p.Gln726Ter) rs1565703229 0.00001
NM_020401.4(NUP107):c.608dup (p.Thr205fs) rs1399129851 0.00001
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter) rs1156577591 0.00001
NM_020937.4(FANCM):c.1969C>T (p.Gln657Ter) rs903442271 0.00001
NM_024649.5(BBS1):c.1738G>A (p.Ala580Thr) rs367751525 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_030662.4(MAP2K2):c.707C>T (p.Pro236Leu) rs1309234276 0.00001
NM_030787.4(CFHR5):c.1303C>T (p.Arg435Ter) rs758392186 0.00001
NM_030787.4(CFHR5):c.557C>A (p.Ser186Ter) rs772849641 0.00001
NM_031885.5(BBS2):c.1112del (p.Asp371fs) rs1472488128 0.00001
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033380.3(COL4A5):c.2510-2A>G rs760109866 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138959.3(VANGL1):c.155_156del (p.Thr52fs) rs1362607560 0.00001
NM_152384.3(BBS5):c.959del (p.Leu320fs) rs1559126736 0.00001
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro) rs777276873 0.00001
NM_153704.6(TMEM67):c.185G>A (p.Cys62Tyr) rs1411871276 0.00001
NM_153704.6(TMEM67):c.2890A>G (p.Thr964Ala) rs1563486544 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe) rs1029793006 0.00001
NM_173630.4(RTTN):c.727_728insGAC (p.Asp243delinsGlyHis) rs1568554608 0.00001
NM_173689.7(CRB2):c.2902_2904dup (p.Ala968dup) rs774240995 0.00001
NM_173689.7(CRB2):c.533G>A (p.Gly178Asp) rs1322315181 0.00001
NM_178452.6(DNAAF1):c.3G>A (p.Met1Ile) rs760814451 0.00001
NM_198076.6(COX20):c.109G>A (p.Gly37Ser) rs1022847823 0.00001
NM_203486.3(DLL3):c.1081C>T (p.Pro361Ser) rs1568450395 0.00001
NM_213606.4(SLC16A12):c.1022A>G (p.Asp341Gly) rs1254570734 0.00001
NM_000020.3(ACVRL1):c.1507C>T (p.Gln503Ter) rs1565597552
NM_000029.4(AGT):c.499_512dup (p.Cys171Ter) rs1558288004
NM_000039.3(APOA1):c.524_535dup (p.Ala178_His179insArgAlaArgAla) rs1470277126
NM_000039.3(APOA1):c.532_533dup (p.His179fs) rs781350389
NM_000052.7(ATP7A):c.4094A>T (p.Tyr1365Phe) rs1569550339
NM_000053.4(ATP7B):c.2989G>A (p.Val997Met) rs1566485134
NM_000053.4(ATP7B):c.3280_3281insGTAT (p.Phe1094fs) rs1566469148
NM_000053.4(ATP7B):c.3680C>A (p.Ala1227Asp) rs1566451314
NM_000053.4(ATP7B):c.4090G>C (p.Val1364Leu) rs1566434432
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs) rs80359284
NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs) rs876658928
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000063.6(C2):c.1102C>T (p.Arg368Ter) rs866130958
NM_000063.6(C2):c.1260G>A (p.Trp420Ter) rs1562613965
NM_000067.3(CA2):c.575C>T (p.Thr192Ile) rs369229469
NM_000069.3(CACNA1S):c.1106G>A (p.Trp369Ter) rs1558076931
NM_000069.3(CACNA1S):c.1664C>G (p.Ser555Cys) rs1558071888
NM_000069.3(CACNA1S):c.2491-1G>T rs1558067283
NM_000069.3(CACNA1S):c.2752G>T (p.Val918Leu) rs1558065059
NM_000069.3(CACNA1S):c.2755C>T (p.Gln919Ter) rs1558065045
NM_000069.3(CACNA1S):c.3157G>A (p.Ala1053Thr) rs1558062351
NM_000069.3(CACNA1S):c.3245A>G (p.Asp1082Gly) rs1558062219
NM_000069.3(CACNA1S):c.3494T>A (p.Met1165Lys) rs1558061202
NM_000069.3(CACNA1S):c.3829C>T (p.Leu1277Phe) rs1558057794
NM_000069.3(CACNA1S):c.3954G>C (p.Arg1318Ser) rs1558056548
NM_000069.3(CACNA1S):c.4081T>C (p.Phe1361Leu) rs1558056421
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4679G>T (p.Arg1560Leu) rs372436488
NM_000069.3(CACNA1S):c.5069del (p.Phe1690fs) rs1558049955
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.514C>A (p.Pro172Thr) rs370041629
NM_000069.3(CACNA1S):c.5620T>C (p.Ter1874Arg) rs1558047318
NM_000069.3(CACNA1S):c.791_812dup (p.Ile272fs) rs1558079148
NM_000085.5(CLCNKB):c.1391G>C (p.Gly464Ala) rs763456347
NM_000085.5(CLCNKB):c.616G>T (p.Ala206Ser) rs1557468183
NM_000085.5(CLCNKB):c.865G>A (p.Gly289Arg) rs1557469252
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1087G>A (p.Gly363Arg) rs1559875465
NM_000091.5(COL4A3):c.1141G>C (p.Gly381Arg) rs1559876538
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.5(COL4A3):c.1350_1352delinsACG (p.Asp450_His451delinsGluArg) rs1559881247
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.1504+1G>A rs1559882199
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg) rs917643323
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg) rs1559897288
NM_000091.5(COL4A3):c.2810G>A (p.Gly937Glu) rs1559899600
NM_000091.5(COL4A3):c.2881+1G>T rs1559899827
NM_000091.5(COL4A3):c.3070+2T>C rs1173685095
NM_000091.5(COL4A3):c.3142G>C (p.Gly1048Arg) rs1559906448
NM_000091.5(COL4A3):c.3212G>A (p.Gly1071Glu) rs765128550
NM_000091.5(COL4A3):c.3275G>T (p.Gly1092Val) rs1559909513
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser) rs920061910
NM_000091.5(COL4A3):c.4010G>A (p.Gly1337Glu) rs779855573
NM_000091.5(COL4A3):c.4501C>T (p.Pro1501Ser) rs1195144676
NM_000091.5(COL4A3):c.4552G>C (p.Asp1518His) rs1559923319
NM_000091.5(COL4A3):c.4985G>A (p.Cys1662Tyr) rs1339780318
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu) rs1425230568
NM_000091.5(COL4A3):c.88G>C (p.Gly30Arg) rs1559854632
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp) rs1559872489
NM_000092.5(COL4A4):c.1108G>A (p.Gly370Arg) rs1559617617
NM_000092.5(COL4A4):c.1423G>T (p.Gly475Cys) rs1371408968
NM_000092.5(COL4A4):c.1623+1G>A rs1559590037
NM_000092.5(COL4A4):c.1889del (p.Pro630fs) rs757688183
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.5(COL4A4):c.2528G>A (p.Gly843Glu) rs1559515185
NM_000092.5(COL4A4):c.2545+2T>G rs1559515075
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs) rs1559508134
NM_000092.5(COL4A4):c.282_283del (p.Asp96fs) rs1559677146
NM_000092.5(COL4A4):c.2870G>T (p.Gly957Val) rs1559503562
NM_000092.5(COL4A4):c.3109_3110del (p.Leu1037fs) rs1559500363
NM_000092.5(COL4A4):c.3861_3862insTC (p.Arg1288fs) rs1559450594
NM_000092.5(COL4A4):c.4082-1G>T rs1559438651
NM_000092.5(COL4A4):c.4175G>C (p.Gly1392Ala) rs1559429663
NM_000092.5(COL4A4):c.4311_4315dup (p.Gly1439fs) rs1559406956
NM_000092.5(COL4A4):c.4429G>T (p.Glu1477Ter) rs1367906290
NM_000092.5(COL4A4):c.4621_4624dup (p.Trp1542fs) rs1559396675
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.5(COL4A4):c.4768C>T (p.Gln1590Ter) rs1559395617
NM_000093.5(COL5A1):c.4366G>A (p.Gly1456Ser) rs1564481153
NM_000093.5(COL5A1):c.4367G>T (p.Gly1456Val) rs1564481157
NM_000093.5(COL5A1):c.4598C>T (p.Pro1533Leu) rs1564484099
NM_000093.5(COL5A1):c.4619G>T (p.Gly1540Val) rs1564485256
NM_000098.3(CPT2):c.1654T>C (p.Phe552Leu) rs1557719426
NM_000098.3(CPT2):c.1675C>G (p.Leu559Val) rs1557719466
NM_000098.3(CPT2):c.1718T>G (p.Leu573Arg) rs1557719507
NM_000124.4(ERCC6):c.2720T>A (p.Ile907Lys) rs1564419333
NM_000124.4(ERCC6):c.809_810delinsAT (p.Gly270Asp) rs1564442704
NM_000124.4(ERCC6):c.809del (p.Gly270fs) rs923535659
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3767T>C (p.Leu1256Pro) rs1567596255
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000136.3(FANCC):c.494_495del (p.His165fs) rs1564719151
NM_000136.3(FANCC):c.826del (p.Phe275_Ile276insTer) rs1564678441
NM_000137.4(FAH):c.816T>G (p.Phe272Leu) rs886286986
NM_000141.5(FGFR2):c.1717C>T (p.Arg573Ter) rs1564875577
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp) rs1564875549
NM_000141.5(FGFR2):c.560C>T (p.Pro187Leu) rs1564972481
NM_000142.5(FGFR3):c.1366G>A (p.Glu456Lys) rs1201375716
NM_000142.5(FGFR3):c.3G>T (p.Met1Ile) rs1560384106
NM_000151.4(G6PC1):c.244C>T (p.Gln82Ter) rs1567703735
NM_000151.4(G6PC1):c.689T>C (p.Leu230Pro) rs1567706328
NM_000159.4(GCDH):c.451C>T (p.Pro151Ser) rs1223762032
NM_000159.4(GCDH):c.557G>C (p.Ser186Thr) rs763739291
NM_000159.4(GCDH):c.571A>G (p.Met191Val) rs1568427483
NM_000168.6(GLI3):c.4007_4009delinsAGT (p.Gly1336_Ala1337delinsGluSer) rs1562657448
NM_000169.3(GLA):c.151A>C (p.Met51Leu) rs1569306069
NM_000169.3(GLA):c.548G>A (p.Gly183Asp) rs398123212
NM_000169.3(GLA):c.730G>C (p.Asp244His) rs727503948
NM_000169.3(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000186.4(CFH):c.1312_1314del (p.Pro438del) rs1558162151
NM_000186.4(CFH):c.2027G>A (p.Gly676Glu) rs1558178947
NM_000186.4(CFH):c.2517C>A (p.Cys839Ter) rs1362306576
NM_000186.4(CFH):c.402G>C (p.Trp134Cys) rs997127130
NM_000186.4(CFH):c.958T>C (p.Cys320Arg) rs1558159702
NM_000187.4(HGD):c.1288C>A (p.Leu430Ile) rs1488335518
NM_000187.4(HGD):c.704A>C (p.Glu235Ala) rs1559786799
NM_000195.5(HPS1):c.1189C>T (p.Gln397Ter) rs1564838831
NM_000197.2(HSD17B3):c.385+1G>A rs1564030845
NM_000197.2(HSD17B3):c.8dup (p.Asp3fs) rs1564069918
NM_000204.5(CFI):c.776G>A (p.Cys259Tyr) rs1561301439
NM_000208.4(INSR):c.101-1G>A rs1568229439
NM_000208.4(INSR):c.2384_2387dup (p.Pro797fs) rs1568441899
NM_000208.4(INSR):c.307T>C (p.Phe103Leu) rs1568229181
NM_000210.4(ITGA6):c.1301A>C (p.Tyr434Ser) rs769943700
NM_000210.4(ITGA6):c.400C>T (p.Arg134Ter) rs866151033
NM_000210.4(ITGA6):c.985G>A (p.Gly329Arg) rs920885330
NM_000213.5(ITGB4):c.309_310delinsAG (p.Gln104Glu) rs1568343603
NM_000213.5(ITGB4):c.4256_4276dup (p.Asp1419_Lys1425dup) rs1269435681
NM_000213.5(ITGB4):c.4415_4418del (p.His1472fs) rs1568383493
NM_000213.5(ITGB4):c.887A>C (p.Tyr296Ser) rs1307780170
NM_000214.3(JAG1):c.148C>T (p.Gln50Ter) rs886039539
NM_000216.4(ANOS1):c.397dup (p.Asp133fs) rs1569059249
NM_000217.3(KCNA1):c.803C>A (p.Thr268Lys) rs1565433356
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000228.3(LAMB3):c.2271AGG[3] (p.Gly761del) rs752460751
NM_000228.3(LAMB3):c.3229-1G>T rs1558146432
NM_000228.3(LAMB3):c.3432_3434delinsGGT (p.Ala1145Val) rs1558145407
NM_000243.3(MEFV):c.414_415delinsGT (p.Ala139Ser) rs1567237666
NM_000255.4(MMUT):c.1837C>A (p.Arg613Ser) rs573727541
NM_000255.4(MMUT):c.1936del (p.Asp646fs) rs1561952070
NM_000255.4(MMUT):c.317C>T (p.Thr106Ile) rs1561959708
NM_000255.4(MMUT):c.833C>T (p.Ala278Val) rs1561958387
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000276.4(OCRL):c.952C>A (p.Arg318Ser) rs137853263
NM_000278.5(PAX2):c.113G>A (p.Arg38Lys) rs1564706226
NM_000278.5(PAX2):c.219C>G (p.Tyr73Ter) rs139724326
NM_000278.5(PAX2):c.220G>T (p.Glu74Ter) rs754146050
NM_000278.5(PAX2):c.265A>T (p.Lys89Ter) rs1564706973
NM_000278.5(PAX2):c.433C>T (p.Gln145Ter) rs1564722420
NM_000286.3(PEX12):c.535del (p.Leu179fs) rs1567730805
NM_000287.4(PEX6):c.2456GAG[1] (p.Gly820del) rs1561819834
NM_000287.4(PEX6):c.2596A>C (p.Lys866Gln) rs1561819432
NM_000287.4(PEX6):c.2741T>C (p.Leu914Pro) rs1561819049
NM_000291.4(PGK1):c.906_936+12del rs1569550892
NM_000297.4(PKD2):c.1061A>G (p.Asp354Gly) rs1560608801
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.2241-2A>G rs1560626499
NM_000297.4(PKD2):c.2274_2275dup (p.Phe759fs) rs1560626561
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.538dup (p.Leu180fs) rs1371793191
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_000302.4(PLOD1):c.84_105dup (p.Lys36delinsPheSerProHisGlyGlyHisTer) rs1557485448
NM_000314.8(PTEN):c.257C>T (p.Ala86Val) rs1564829783
NM_000314.8(PTEN):c.505C>G (p.Pro169Ala) rs1564837747
NM_000316.3(PTH1R):c.26_27delinsTT (p.Gly9Val) rs1559527551
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1642T>C (p.Trp548Arg) rs1001051115
NM_000334.4(SCN4A):c.1946T>C (p.Ile649Thr) rs1191281164
NM_000334.4(SCN4A):c.2254C>T (p.Leu752Phe) rs1567823019
NM_000334.4(SCN4A):c.268_269del (p.Lys90fs) rs1567829776
NM_000334.4(SCN4A):c.3992C>T (p.Pro1331Leu) rs1567817335
NM_000334.4(SCN4A):c.4784C>T (p.Ala1595Val) rs1567816203
NM_000334.4(SCN4A):c.5188T>C (p.Cys1730Arg) rs1567815888
NM_000334.4(SCN4A):c.619A>G (p.Thr207Ala) rs1567829142
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000338.3(SLC12A1):c.1826C>G (p.Ser609Cys) rs1566841669
NM_000338.3(SLC12A1):c.1942+1G>T rs1566841776
NM_000338.3(SLC12A1):c.2773C>T (p.Leu925Phe) rs1566857408
NM_000338.3(SLC12A1):c.3248C>G (p.Pro1083Arg) rs1566863357
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln) rs567478582
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser) rs904926333
NM_000341.4(SLC3A1):c.194A>G (p.Tyr65Cys) rs1030612485
NM_000341.4(SLC3A1):c.334C>T (p.Pro112Ser) rs369145783
NM_000341.4(SLC3A1):c.766-1G>T rs1558455633
NM_000341.4(SLC3A1):c.777T>G (p.Tyr259Ter) rs1558455640
NM_000341.4(SLC3A1):c.918G>T (p.Lys306Asn) rs1558461991
NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His) rs745839527
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.2294T>C (p.Leu765Pro) rs1567829187
NM_000346.4(SOX9):c.709_710dup (p.Pro238fs) rs1567911132
NM_000373.4(UMPS):c.2T>C (p.Met1Thr) rs1229286305
NM_000373.4(UMPS):c.983-2A>G rs1559906084
NM_000379.4(XDH):c.3108del (p.Thr1037fs) rs1558678570
NM_000379.4(XDH):c.3898C>G (p.Pro1300Ala) rs1339914096
NM_000388.4(CASR):c.1459G>A (p.Gly487Arg) rs1559965137
NM_000388.4(CASR):c.2165del (p.Asn722fs) rs1559968729
NM_000404.4(GLB1):c.1191del (p.Ile398fs) rs1559385898
NM_000404.4(GLB1):c.281G>A (p.Gly94Glu) rs1430354883
NM_000414.4(HSD17B4):c.1133G>A (p.Gly378Glu) rs1561463583
NM_000414.4(HSD17B4):c.1585C>T (p.Pro529Ser) rs1561485692
NM_000414.4(HSD17B4):c.557A>T (p.Asn186Ile) rs1339819940
NM_000414.4(HSD17B4):c.904del (p.Lys301_Ile302insTer) rs1561460929
NM_000435.3(NOTCH3):c.1153G>A (p.Gly385Ser) rs1568360640
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr) rs758997426
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del) rs894374843
NM_000435.3(NOTCH3):c.2557T>C (p.Cys853Arg) rs1568357588
NM_000435.3(NOTCH3):c.3488A>T (p.Asp1163Val) rs1568354937
NM_000441.2(SLC26A4):c.1383G>T (p.Met461Ile) rs1367992231
NM_000441.2(SLC26A4):c.1412T>C (p.Leu471Pro) rs1562835716
NM_000441.2(SLC26A4):c.2047T>G (p.Phe683Val) rs959216005
NM_000455.5(STK11):c.1260_1290del (p.Lys423fs) rs1568717494
NM_000455.5(STK11):c.359A>G (p.Glu120Gly) rs1205003744
NM_000455.5(STK11):c.389A>G (p.Glu130Gly) rs1568705335
NM_000455.5(STK11):c.842C>A (p.Pro281Gln) rs121913322
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.58G>A (p.Gly20Arg) rs1052557621
NM_000458.4(HNF1B):c.778G>A (p.Glu260Lys) rs1568665613
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)
NM_000466.3(PEX1):c.2234G>T (p.Arg745Ile) rs1562854190
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3128C>T (p.Thr1043Ile) rs996039336
NM_000475.5(NR0B1):c.1354A>T (p.Ile452Phe) rs1569267996
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu) rs1569269085
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln) rs1569268891
NM_000478.6(ALPL):c.1373_1374delinsGA (p.Asp458Gly) rs1558558773
NM_000478.6(ALPL):c.810G>A (p.Trp270Ter) rs1558553380
NM_000486.6(AQP2):c.613T>C (p.Trp205Arg) rs1565637077
NM_000490.5(AVP):c.322+2T>G rs1568733815
NM_000490.5(AVP):c.92G>A (p.Arg31Lys) rs752961032
NM_000503.6(EYA1):c.1597+1G>A rs1563630117
NM_000503.6(EYA1):c.1597G>C (p.Gly533Arg) rs1563630128
NM_000503.6(EYA1):c.418+1G>A rs886042006
NM_000503.6(EYA1):c.640G>A (p.Asp214Asn) rs1563422500
NM_000508.5(FGA):c.2153C>A (p.Thr718Asn) rs1560823652
NM_000508.5(FGA):c.2434T>C (p.Cys812Arg) rs1560823354
NM_000516.7(GNAS):c.-178_-171del rs1420599206
NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del) rs1195806602
NM_000522.5(HOXA13):c.357_392del (p.Ala122_Ala133del) rs1235002831
NM_000522.5(HOXA13):c.357_395del (p.Ala121_Ala133del) rs1428793938
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del) rs35861510
NM_000522.5(HOXA13):c.421_422insAGGCGGGCC (p.Gly140_Pro141insGlnAlaGly) rs35599078
NM_000523.4(HOXD13):c.168GGC[8] (p.Ala69_Ala71dup) rs3832095
NM_000523.4(HOXD13):c.560C>G (p.Ala187Gly) rs1431472260
NM_000523.4(HOXD13):c.575_577del (p.Phe192del) rs1559108268
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.706-2A>T rs745487791
NM_000537.4(REN):c.116T>A (p.Met39Lys) rs1558245626
NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter) rs1566092307
NM_000545.8(HNF1A):c.242T>C (p.Phe81Ser) rs1565880245
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) rs753998395
NM_000545.8(HNF1A):c.59G>T (p.Gly20Val) rs1566092362
NM_000545.8(HNF1A):c.787C>T (p.Arg263Cys) rs771108132
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000548.5(TSC2):c.1585G>T (p.Asp529Tyr) rs1567438280
NM_000548.5(TSC2):c.1724T>C (p.Leu575Pro) rs1567456901
NM_000548.5(TSC2):c.2218A>G (p.Met740Val) rs757345150
NM_000548.5(TSC2):c.2870dup (p.Leu957fs) rs1567490680
NM_000548.5(TSC2):c.3137C>T (p.Pro1046Leu) rs1567497682
NM_000548.5(TSC2):c.4008_4010del (p.Ser1338del) rs1567520255
NM_000548.5(TSC2):c.5042A>G (p.Asn1681Ser) rs1567128450
NM_000548.5(TSC2):c.5230C>T (p.Leu1744Phe) rs1567132207
NM_000685.5(AGTR1):c.284_291del (p.Pro95fs) rs1431071473
NM_000782.5(CYP24A1):c.259-2A>G rs1366689110
NM_000782.5(CYP24A1):c.375C>A (p.Tyr125Ter) rs775180997
NM_000789.4(ACE):c.1743dup (p.Gln582fs) rs1568039403
NM_000789.4(ACE):c.1922-309C>A rs532464035
NM_000789.4(ACE):c.1922-336dup rs1156450082
NM_000789.4(ACE):c.2173C>T (p.Gln725Ter) rs139263584
NM_000789.4(ACE):c.2192_2193inv (p.Ala731Val)
NM_000789.4(ACE):c.3335A>G (p.Asp1112Gly) rs1568047328
NM_000789.4(ACE):c.3538_3539delinsGT (p.Pro1180Val) rs1568048955
NM_000901.5(NR3C2):c.2018G>A (p.Arg673Gln) rs1420676853
NM_000939.4(POMC):c.293_294insAGGCAGCGG (p.Ser98delinsArgGlySerGly) rs1558628620
NM_000969.5(RPL5):c.302C>G (p.Thr101Ser) rs1557439964
NM_001002295.2(GATA3):c.1055dup (p.Asn352fs) rs1564405153
NM_001002295.2(GATA3):c.53T>G (p.Val18Gly) rs985445864
NM_001003787.4(STRADA):c.1100+54_1100+55delinsTA rs1568169847
NM_001003787.4(STRADA):c.31dup (p.Ile11fs) rs1568212478
NM_001003841.3(SLC6A19):c.1705G>T (p.Glu569Ter) rs182081474
NM_001003841.3(SLC6A19):c.284_300dup (p.Leu101fs) rs1561162959
NM_001003841.3(SLC6A19):c.968C>T (p.Ser323Phe) rs1561167578
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001009944.3(PKD1):c.10151C>G (p.Ser3384Ter) rs1383556063
NM_001009944.3(PKD1):c.1039_1045del (p.Gly347fs) rs1567217194
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.1047_1049del (p.Asp349_Val350delinsGlu) rs1567217173
NM_001009944.3(PKD1):c.10940G>A (p.Arg3647Gln) rs1415072762
NM_001009944.3(PKD1):c.10998del (p.Arg3666fs) rs1567157447
NM_001009944.3(PKD1):c.11251_11266del (p.Gln3751fs) rs1567154939
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11412-2A>C rs1555445771
NM_001009944.3(PKD1):c.11868_11869insACT (p.Leu3956_Gly3957insThr) rs1567149662
NM_001009944.3(PKD1):c.11986_12000del (p.Phe3996_Val4000del) rs1567148933
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.1206_1207del (p.His403fs) rs1567216675
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12444G>C (p.Glu4148Asp) rs1567145638
NM_001009944.3(PKD1):c.12445-2A>T rs1555444334
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12718G>T (p.Glu4240Ter) rs1567143705
NM_001009944.3(PKD1):c.1286G>T (p.Trp429Leu) rs1567216472
NM_001009944.3(PKD1):c.1420C>T (p.Gln474Ter) rs1567215646
NM_001009944.3(PKD1):c.1439del (p.Pro480fs) rs1567215590
NM_001009944.3(PKD1):c.1722+1G>A rs1567214706
NM_001009944.3(PKD1):c.1723-2A>G rs1567214052
NM_001009944.3(PKD1):c.1903dup (p.Gln635fs) rs1567213083
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup) rs1567212718
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2098-1G>C rs1567211807
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2298_2308del (p.Cys767fs) rs1567211181
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.275del (p.Ala92fs) rs1567219735
NM_001009944.3(PKD1):c.2966_2967insCC (p.Ala990fs) rs1567207841
NM_001009944.3(PKD1):c.305_307del (p.Lys102del) rs1567219527
NM_001009944.3(PKD1):c.3128del (p.Val1043fs) rs1567206632
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs) rs1567204146
NM_001009944.3(PKD1):c.3749G>A (p.Gly1250Asp) rs1567202673
NM_001009944.3(PKD1):c.384del (p.Glu128fs) rs1567219155
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.4110_4113del (p.His1369_Tyr1370insTer) rs1567201338
NM_001009944.3(PKD1):c.4127T>C (p.Val1376Ala) rs753120006
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4319_4321del (p.Ser1440del) rs1567200450
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter) rs1264176877
NM_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter) rs942694907
NM_001009944.3(PKD1):c.5824del (p.Arg1942fs) rs1567195285
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter) rs1567195059
NM_001009944.3(PKD1):c.5937C>A (p.Cys1979Ter) rs754333013
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs) rs1567192623
NM_001009944.3(PKD1):c.7274del (p.Gly2425fs) rs1567186399
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.7336_7338del (p.Phe2446del) rs1567186120
NM_001009944.3(PKD1):c.741_742dup (p.Cys248fs) rs1567218104
NM_001009944.3(PKD1):c.7490-2A>T rs1567185163
NM_001009944.3(PKD1):c.7493G>A (p.Trp2498Ter) rs1567185138
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7646_7648del (p.Val2549del) rs1567184420
NM_001009944.3(PKD1):c.8017-2A>G rs1567180640
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_001009944.3(PKD1):c.8423T>C (p.Ile2808Thr) rs1567177764
NM_001009944.3(PKD1):c.8427del (p.Glu2810fs) rs1567177760
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter) rs1567176750
NM_001009944.3(PKD1):c.9067_9123del (p.Met3023_Ala3041del) rs1567174543
NM_001009944.3(PKD1):c.9231dup (p.Met3078fs) rs1567173968
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.9518del (p.Pro3173fs) rs1567171182
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter) rs1485297878
NM_001009944.3(PKD1):c.9558C>G (p.His3186Gln) rs765094547
NM_001009944.3(PKD1):c.9563A>T (p.Asn3188Ile) rs1567171059
NM_001009944.3(PKD1):c.964_965dup (p.His323fs) rs1567217428
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs) rs1567169638
NM_001009994.3(RIPPLY2):c.240-1G>C rs374534967
NM_001009999.3(KDM1A):c.1817T>C (p.Leu606Pro) rs1557596012
NM_001009999.3(KDM1A):c.360C>G (p.Tyr120Ter) rs1282208764
NM_001017420.3(ESCO2):c.151CAA[1] (p.Gln52del) rs1563468411
NM_001018113.3(FANCB):c.-70-1G>C rs1569093264
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) rs1569083679
NM_001018115.3(FANCD2):c.356_361del (p.Arg119_Leu120del) rs1559370629
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001029.5(RPS26):c.-101C>T rs868693078
NM_001031681.2(CTNS):c.682-5_682-4insCCAGCGCGGTGG
NM_001031725.6(DDX59):c.1136del (p.Gln379fs) rs1403300887
NM_001034116.2(EIF2B4):c.1365T>A (p.Asn455Lys) rs1558632613
NM_001034116.2(EIF2B4):c.670G>T (p.Ala224Ser) rs1558636529
NM_001038.6(SCNN1A):c.1000_1002delinsACC (p.Ala334Thr) rs1565479131
NM_001038.6(SCNN1A):c.139_140delinsCT (p.Ala47Leu) rs1565488558
NM_001038.6(SCNN1A):c.69del (p.Asn24fs) rs1565488675
NM_001039958.2(MESP2):c.956_957insAG (p.Leu320fs) rs1567149972
NM_001040167.2(LFNG):c.197_198delinsTT (p.Ala66Val) rs1562551243
NM_001040716.2(PC):c.1517A>C (p.His506Pro) rs1565216103
NM_001040716.2(PC):c.2231C>T (p.Ala744Val) rs1565212112
NM_001040716.2(PC):c.2949_2952dup (p.Leu985fs) rs1565209022
NM_001041.4(SI):c.1271T>A (p.Ile424Asn) rs1560012386
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del) rs1446666305
NM_001041.4(SI):c.1849dup (p.Thr617fs) rs1560006328
NM_001041.4(SI):c.2273C>A (p.Pro758His) rs758287074
NM_001041.4(SI):c.2353G>C (p.Asp785His) rs1560001335
NM_001041.4(SI):c.2654_2657del (p.Asp885fs) rs1221816681
NM_001041.4(SI):c.2764_2767del (p.Asn922fs) rs1559997823
NM_001041.4(SI):c.3482dup (p.Asn1161fs) rs1316317368
NM_001041.4(SI):c.3505A>G (p.Asn1169Asp) rs1559991401
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg) rs1559990351
NM_001041.4(SI):c.528T>A (p.Tyr176Ter) rs1560016661
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys) rs1567851424
NM_001042492.3(NF1):c.6147+1G>A rs1060500296
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys) rs878853908
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val) rs786202540
NM_001042681.2(RERE):c.1312T>C (p.Trp438Arg) rs1557591383
NM_001042681.2(RERE):c.1313G>T (p.Trp438Leu) rs1557591380
NM_001042681.2(RERE):c.1618G>T (p.Gly540Cys) rs748973740
NM_001042681.2(RERE):c.3039dup (p.Pro1014fs) rs1557586047
NM_001042681.2(RERE):c.3573_3574insAAGGAGCGGGAGCGGGAG (p.Glu1191_Arg1192insLysGluArgGluArgGlu) rs1553154744
NM_001042681.2(RERE):c.3910_3939del (p.Leu1304_Glu1313del) rs1557583071
NM_001042681.2(RERE):c.42CCGGGACCGAGA[3] (p.14DR[6]) rs765195788
NM_001065.4(TNFRSF1A):c.1189C>T (p.Arg397Cys) rs1565465664
NM_001077365.2(POMT1):c.1062G>T (p.Trp354Cys) rs1564354702
NM_001079.4(ZAP70):c.1643T>G (p.Val548Gly) rs1559329905
NM_001079.4(ZAP70):c.3G>T (p.Met1Ile) rs1559319752
NM_001079866.2(BCS1L):c.712A>T (p.Ser238Cys) rs1459378570
NM_001080508.3(TBX18):c.170GCG[3] (p.Gly60del) rs1253648998
NM_001080508.3(TBX18):c.464T>C (p.Ile155Thr) rs1562268262
NM_001081.4(CUBN):c.10192_10193del (p.Asp3398fs) rs1564376600
NM_001081.4(CUBN):c.10431_10447del (p.Pro3477_Val3478insTer) rs1564374451
NM_001081.4(CUBN):c.1097G>C (p.Cys366Ser) rs1564518870
NM_001081.4(CUBN):c.5856_5858delinsGGC (p.Gly1953Ala) rs1564434486
NM_001081.4(CUBN):c.8007dup (p.Val2670fs) rs1564414648
NM_001081.4(CUBN):c.8104del (p.Ser2702fs) rs1564412484
NM_001081.4(CUBN):c.9266CCT[3] (p.Ser3090dup) rs1300066453
NM_001098484.3(SLC4A4):c.2249C>T (p.Thr750Ile) rs1560593238
NM_001098484.3(SLC4A4):c.2446G>A (p.Gly816Arg) rs1259668764
NM_001098484.3(SLC4A4):c.2657T>C (p.Leu886Pro) rs1560609764
NM_001101.5(ACTB):c.1081G>A (p.Glu361Lys) rs1562718646
NM_001105247.2(ARMC5):c.1597del (p.Ser533fs) rs1567377180
NM_001105247.2(ARMC5):c.1864+56del rs1567377765
NM_001105247.2(ARMC5):c.928_929delinsAA (p.Ala310Asn) rs1567375574
NM_001110556.2(FLNA):c.1527_1538del (p.Ala510_Gly513del) rs1569551810
NM_001113378.2(FANCI):c.1950T>A (p.Cys650Ter) rs1567163989
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.3187-2A>T rs1472123387
NM_001114753.3(ENG):c.742_743insT (p.Asp248fs) rs1213847963
NM_001122630.2(CDKN1C):c.573_574del (p.Ala192fs) rs1564929735
NM_001122630.2(CDKN1C):c.74C>G (p.Pro25Arg) rs1564930749
NM_001122630.2(CDKN1C):c.7_8insAAGA (p.Arg3fs) rs1564930866
NM_001122955.4(BSCL2):c.884C>T (p.Pro295Leu) rs1390537161
NM_001123385.2(BCOR):c.2305del (p.Glu769fs) rs1569155966
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) rs1569155643
NM_001123385.2(BCOR):c.3712_3729del (p.Thr1238_Pro1243del) rs1569148032
NM_001123385.2(BCOR):c.432_433insGGTG (p.Phe145fs) rs1569159884
NM_001127898.4(CLCN5):c.1382A>C (p.Asp461Ala) rs1569540368
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter) rs797044811
NM_001127898.4(CLCN5):c.2116C>T (p.Leu706Phe) rs1569540502
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.2261A>G (p.Asp754Gly) rs782544077
NM_001127898.4(CLCN5):c.415+1G>A rs1569540051
NM_001130145.3(YAP1):c.115_144dup (p.Ala39_Pro48dup) rs1479331868
NM_001134831.2(AHI1):c.1915T>C (p.Tyr639His) rs974371363
NM_001134831.2(AHI1):c.2369_2372del (p.Asn790fs) rs1562753388
NM_001134831.2(AHI1):c.3435_3438del (p.Asn1146fs) rs1562458813
NM_001142285.2(RPS24):c.508_516del (p.Val170_Gly172del) rs1564633573
NM_001142285.2(RPS24):c.820G>T (p.Glu274Ter) rs1564633698
NM_001165967.2(HES7):c.402_416del (p.Pro136_Pro140del) rs1568014202
NM_001166114.2(PNPLA6):c.2324_2325del (p.Val775fs) rs1568418734
NM_001166114.2(PNPLA6):c.2715del (p.Thr906fs) rs1568419950
NM_001166114.2(PNPLA6):c.3035T>C (p.Leu1012Ser) rs1568420862
NM_001166114.2(PNPLA6):c.422del (p.Arg141fs) rs1568407023
NM_001166114.2(PNPLA6):c.925-1G>A rs1428600937
NM_001171.6(ABCC6):c.1765_1766insCTGC (p.His589fs) rs1567511016
NM_001171.6(ABCC6):c.4249C>G (p.Leu1417Val) rs1567460585
NM_001173990.3(TMEM216):c.67del (p.Leu23fs) rs1565088283
NM_001177316.2(SLC34A3):c.1601_1633dup (p.Leu534_Val544dup) rs1564423219
NM_001177316.2(SLC34A3):c.944del (p.Gly315fs) rs1473689787
NM_001177701.3(IFT27):c.121G>A (p.Gly41Arg) rs1569077220
NM_001195305.3(BBIP1):c.134T>A (p.Ile45Lys) rs1564689350
NM_001199107.2(TBC1D24):c.389_391del (p.Phe130del) rs1418389627
NM_001199397.3(NEK1):c.1293_1296dup (p.Ala433fs) rs1355331355
NM_001199397.3(NEK1):c.1513_1517del (p.Lys505fs) rs1256306738
NM_001202.6(BMP4):c.197G>A (p.Gly66Glu) rs1566581362
NM_001202.6(BMP4):c.450C>G (p.Asn150Lys) rs767216159
NM_001202.6(BMP4):c.512G>A (p.Trp171Ter) rs1064796998
NM_001204285.2(MUC1):c.302_361del (p.Val101_Ser120del) rs1557837342
NM_001205254.2(OCLN):c.-68-2A>G rs1561331778
NM_001205254.2(OCLN):c.1014_1023del (p.Glu339fs) rs758540698
NM_001205254.2(OCLN):c.1276_1283del (p.Asp426fs) rs1561354402
NM_001211.6(BUB1B):c.1202AGA[1] (p.Lys402del) rs1566823816
NM_001211.6(BUB1B):c.1567+2T>A rs1566825026
NM_001211.6(BUB1B):c.2851-1G>C rs1566830754
NM_001235.5(SERPINH1):c.547G>T (p.Gly183Cys) rs758606932
NM_001235.5(SERPINH1):c.81_95dup (p.Ala29_Ala33dup) rs1565241224
NM_001243133.2(NLRP3):c.127C>T (p.Gln43Ter) rs1558185400
NM_001243133.2(NLRP3):c.517A>G (p.Lys173Glu) rs1041570007
NM_001276345.2(TNNT2):c.719+2T>A rs113984578
NM_001282225.2(ADA2):c.1003_1004inv (p.His335Cys)
NM_001282225.2(ADA2):c.388T>C (p.Tyr130His) rs1568986988
NM_001282225.2(ADA2):c.393del (p.Arg131fs) rs1568986974
NM_001291303.3(FAT4):c.13641GAA[2] (p.Lys4551del) rs1560639673
NM_001291303.3(FAT4):c.3842A>G (p.Tyr1281Cys) rs1317645126
NM_001291415.2(KDM6A):c.3488G>C (p.Arg1163Pro) rs1457797612
NM_001349206.2(LPIN1):c.2237A>G (p.His746Arg) rs1558275568
NM_001349206.2(LPIN1):c.669C>G (p.Tyr223Ter) rs1558871594
NM_001351132.2(PEX5):c.126dup (p.Gly43fs) rs777383921
NM_001358921.2(COQ2):c.225_226insAG (p.Arg76fs) rs1309293625
NM_001360.3(DHCR7):c.895C>T (p.His299Tyr) rs745498103
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365276.2(TNXB):c.10909_10910del (p.Ser3637_Ala3638insTer) rs1217590497
NM_001365276.2(TNXB):c.11547_11548delinsGA (p.Gln3850Lys) rs1562773221
NM_001366722.1(GRIP1):c.1607C>T (p.Thr536Ile) rs1565744088
NM_001366722.1(GRIP1):c.1760_1761delinsAA (p.Thr587Lys) rs1565731879
NM_001366722.1(GRIP1):c.2669_2671del (p.Phe890del) rs1238544106
NM_001370595.2(COA8):c.517_518insTTTT (p.Gly173fs) rs1566988219
NM_001374828.1(ARID1B):c.1206_1223dup (p.Ser403_Gly408dup) rs755976776
NM_001374828.1(ARID1B):c.1207_1230dup (p.Ser403_Gly410dup) rs1215031054
NM_001374828.1(ARID1B):c.1211GAG[4] (p.Gly408_Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1235_1243del (p.Ala412_Ala414del) rs1562377638
NM_001374828.1(ARID1B):c.1266GGC[1] (p.Ala431_Ala433del) rs765410747
NM_001374828.1(ARID1B):c.1281GGC[5] (p.Ala433dup) rs764418312
NM_001374828.1(ARID1B):c.1293_1311dup (p.Gly438fs) rs943407609
NM_001374828.1(ARID1B):c.1619CGG[5] (p.Ala543dup) rs757953295
NM_001374828.1(ARID1B):c.1720_1721delinsAA (p.Ala574Lys) rs1562378975
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[1] (p.Gln207_Gln214del) rs770869529
NM_001374828.1(ARID1B):c.612_613insG (p.Gln205fs) rs1554247377
NM_001374828.1(ARID1B):c.615GCA[4] (p.Gln212_Gln214del) rs587779744
NM_001375405.1(CEP120):c.1052T>G (p.Leu351Ter) rs1562053969
NM_001377.3(DYNC2H1):c.11851_11852delinsAA (p.Ser3951Lys) rs1565493307
NM_001377.3(DYNC2H1):c.1377del (p.Phe459fs) rs1565315923
NM_001377.3(DYNC2H1):c.367-2A>G rs1291197898
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs) rs1565359085
NM_001377.3(DYNC2H1):c.8243_8244insCTAATTCTTA (p.Leu2748_Leu2749insTer) rs1565393163
NM_001377.3(DYNC2H1):c.8410C>T (p.Gln2804Ter) rs1565394197
NM_001377.3(DYNC2H1):c.8816T>G (p.Ile2939Ser) rs1199516337
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.12316_12332del (p.Lys4106fs) rs1558712932
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys) rs1006328829
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter) rs1553409778
NM_001378615.1(CC2D2A):c.3536A>T (p.Glu1179Val) rs1560188280
NM_001378615.1(CC2D2A):c.3736C>T (p.Pro1246Ser) rs1318619045
NM_001378615.1(CC2D2A):c.3771+1G>C rs1560190091
NM_001378615.1(CC2D2A):c.3975+2dup rs1560192764
NM_001379081.2(FREM1):c.4468_4469insG (p.Thr1490fs) rs1563900085
NM_001379081.2(FREM1):c.4651del (p.Gln1551fs) rs1563898470
NM_001379081.2(FREM1):c.939del (p.Ser314fs) rs1564076333
NM_001379286.1(ZNF423):c.3733+1G>A rs1567443640
NM_001379500.1(COL18A1):c.1739G>T (p.Gly580Val) rs1568916889
NM_001379500.1(COL18A1):c.1894C>T (p.Gln632Ter) rs1209249150
NM_001379500.1(COL18A1):c.1924-1G>C rs1568919581
NM_001379500.1(COL18A1):c.2473del (p.Glu825fs) rs1568927636
NM_001379500.1(COL18A1):c.3039_3047del (p.1011PPG[3]) rs1568942958
NM_001382391.1(CSPP1):c.291_293delinsCTT (p.Tyr98Phe) rs1563515385
NM_001382391.1(CSPP1):c.3221-2A>G rs1563798688
NM_001382391.1(CSPP1):c.3455_3460del (p.Lys1152_Pro1153del) rs1563809417
NM_001382391.1(CSPP1):c.3570_3572dup (p.Ser1191dup) rs1563816486
NM_001382391.1(CSPP1):c.953_977dup (p.Val326_Ile327insSerTyrGlyThrTer) rs1563560026
NM_001384479.1(AGT):c.374T>C rs1558288088
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384732.1(CPLANE1):c.5363_5365del (p.Leu1788del) rs1561522930
NM_001384732.1(CPLANE1):c.6777_6794del (p.Glu2259_Ser2264del) rs1561476971
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe) rs1561422940
NM_001384732.1(CPLANE1):c.895G>T (p.Gly299Ter) rs1561704278
NM_001384732.1(CPLANE1):c.9701TGG[1] (p.Val3235del) rs1561271347
NM_001395413.1(POR):c.1027G>T (p.Asp343Tyr) rs782200489
NM_001395413.1(POR):c.1761_1767dup (p.Gln590fs) rs1563436030
NM_001395656.1(ROBO2):c.3828_3830del (p.Ser1277del) rs1559773887
NM_001395656.1(ROBO2):c.95G>A (p.Arg32Gln) rs754279676
NM_001424.6(EMP2):c.422A>G (p.Tyr141Cys) rs1567199317
NM_001424.6(EMP2):c.78+1G>A rs747072310
NM_001453.3(FOXC1):c.1111_1119del (p.Ala371_Ser373del) rs1281315755
NM_001453.3(FOXC1):c.1124GCG[9] (p.Gly378_Gly380dup) rs76840944
NM_001453.3(FOXC1):c.1338CGG[13] (p.Gly452_Gly456dup) rs398123612
NM_001453.3(FOXC1):c.38T>G (p.Leu13Arg) rs1177304155
NM_001457.4(FLNB):c.1321C>T (p.Pro441Ser) rs745588918
NM_001457.4(FLNB):c.2474T>C (p.Phe825Ser) rs1559700069
NM_001457.4(FLNB):c.4172_4173inv (p.Ala1391Val)
NM_001457.4(FLNB):c.4759C>T (p.Arg1587Cys) rs1383300466
NM_001457.4(FLNB):c.576_577delinsAC (p.Lys193Gln) rs1559677548
NM_001567.4(INPPL1):c.1006G>A (p.Val336Met) rs1166410104
NM_001567.4(INPPL1):c.1893_1894delinsAA (p.Leu632Ile) rs1565392009
NM_001567.4(INPPL1):c.242T>C (p.Val81Ala) rs1565384350
NM_001613.4(ACTA2):c.139G>A (p.Val47Met) rs1181233032
NM_001613.4(ACTA2):c.953A>G (p.Glu318Gly) rs1564642642
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.271C>T (p.Gln91Ter) rs1558677397
NM_001692.4(ATP6V1B1):c.367+1G>A rs1343871627
NM_001845.6(COL4A1):c.3031G>T (p.Gly1011Ter) rs1566351231
NM_001845.6(COL4A1):c.388G>A (p.Gly130Arg) rs766346293
NM_001845.6(COL4A1):c.4129C>T (p.Pro1377Ser) rs1566342407
NM_001845.6(COL4A1):c.554G>C (p.Gly185Ala) rs1566376798
NM_001845.6(COL4A1):c.626_627insT (p.Pro211fs) rs1566376109
NM_001845.6(COL4A1):c.862_866del (p.Lys288fs) rs1566373199
NM_001854.4(COL11A1):c.2792G>A (p.Gly931Glu) rs1557891760
NM_001876.4(CPT1A):c.1002_1003insT (p.Val335fs) rs1566357672
NM_001876.4(CPT1A):c.1664G>A (p.Gly555Asp) rs1566348991
NM_001876.4(CPT1A):c.1993A>G (p.Lys665Glu) rs1566339751
NM_001963.6(EGF):c.1336G>A (p.Gly446Arg) rs1560698635
NM_001963.6(EGF):c.3454_3468del (p.Ser1152_Ser1156del) rs754929911
NM_001966.4(EHHADH):c.2075T>A (p.Leu692Gln) rs913067903
NM_001966.4(EHHADH):c.561_562del (p.Arg187fs) rs1560013367
NM_001966.4(EHHADH):c.586del (p.Arg196fs) rs1375541639
NM_001982.4(ERBB3):c.221T>G (p.Leu74Arg) rs1565855722
NM_001985.3(ETFB):c.373C>G (p.Gln125Glu) rs1568467526
NM_001985.3(ETFB):c.376-2A>G rs1568466685
NM_002067.5(GNA11):c.605+1_605+2insATGGTGGATGTGGGGGGCCAGCGGTCGGAGCGGAGGAAGTGGATCCACTGCT rs752056117
NM_002067.5(GNA11):c.735+1_735+2insGA rs771890434
NM_002204.4(ITGA3):c.1876C>T (p.Gln626Ter) rs758284330
NM_002292.4(LAMB2):c.4821_4822delinsGA (p.Gln1608Lys) rs1560066776
NM_002334.4(LRP4):c.248G>T (p.Cys83Phe) rs1565801283
NM_002334.4(LRP4):c.4511C>T (p.Ser1504Phe) rs1565780905
NM_002334.4(LRP4):c.530C>A (p.Ser177Tyr) rs1565800416
NM_002456.6(MUC1):c.159+236dup rs1557836992
NM_002473.6(MYH9):c.1177C>T (p.Arg393Cys) rs1156464508
NM_002473.6(MYH9):c.1492G>A (p.Glu498Lys) rs1569535680
NM_002473.6(MYH9):c.2810AGA[3] (p.Lys940del) rs1353636692
NM_002473.6(MYH9):c.3694G>A (p.Glu1232Lys) rs1569534975
NM_002473.6(MYH9):c.5354G>T (p.Arg1785Leu) rs774015925
NM_002618.4(PEX13):c.58_69dup (p.Ala20_Gly23dup) rs1470266685
NM_002755.4(MAP2K1):c.45del (p.Asp16fs) rs1566991692
NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu) rs1566185599
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_002968.3(SALL1):c.253_258del (p.Phe85_Ser86del) rs1438564053
NM_002968.3(SALL1):c.712C>T (p.Gln238Ter) rs1567316325
NM_003000.3(SDHB):c.135_136insACAAGTTGAAACT (p.Arg46delinsThrSerTer) rs1557746639
NM_003002.4(SDHD):c.411del (p.Leu139fs) rs1566702771
NM_003041.4(SLC5A2):c.1309T>C (p.Ser437Pro) rs1567390826
NM_003041.4(SLC5A2):c.1346dup (p.Gly450fs) rs765873464
NM_003041.4(SLC5A2):c.1552_1573dup (p.His525fs) rs987447860
NM_003041.4(SLC5A2):c.175_184del (p.Gly59fs) rs1567387443
NM_003041.4(SLC5A2):c.187del (p.Val63fs) rs1567387460
NM_003052.5(SLC34A1):c.1325C>A (p.Pro442Gln) rs760010857
NM_003052.5(SLC34A1):c.1363G>A (p.Ala455Thr) rs1561635352
NM_003079.5(SMARCE1):c.-45-2A>T rs1377199841
NM_003079.5(SMARCE1):c.156+1G>A rs1567848929
NM_003108.4(SOX11):c.456_467dup (p.Gly153_Gly156dup) rs774530705
NM_003193.5(TBCE):c.841C>T (p.Gln281Ter) rs752790319
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.205T>A (p.Cys69Ser) rs1567311279
NM_003361.4(UMOD):c.255C>A (p.Asn85Lys) rs750535100
NM_003361.4(UMOD):c.286G>T (p.Glu96Ter) rs1357689052
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser) rs1567309965
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys) rs1567309582
NM_003401.5(XRCC4):c.889dup (p.Glu297fs) rs1561437752
NM_003482.4(KMT2D):c.11223_11234del (p.Gln3742_Gln3745del) rs1565778883
NM_003482.4(KMT2D):c.11718_11759dup (p.3903QQQLQQQQQLQQQQ[3]) rs754086811
NM_003482.4(KMT2D):c.1868_1948del (p.Ala623_Glu649del) rs1565818774
NM_003482.4(KMT2D):c.2091_2094delinsTATG (p.Thr698Met) rs1565818194
NM_003482.4(KMT2D):c.2404_2405delinsCG (p.Glu802Arg) rs1565816786
NM_003482.4(KMT2D):c.9843_9844delinsCT (p.Gln3281_Gln3282delinsHisTer) rs1565785981
NM_003590.5(CUL3):c.2246T>C (p.Ile749Thr) rs1559332999
NM_003611.3(OFD1):c.227C>T (p.Ser76Phe) rs1569102409
NM_003630.3(PEX3):c.544_545del (p.Val182fs) rs1562654726
NM_003638.3(ITGA8):c.404G>A (p.Trp135Ter) rs751824845
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_003737.4(DCHS1):c.2995C>T (p.Arg999Ter) rs1564865337
NM_003737.4(DCHS1):c.6089_6090delinsTT (p.Gly2030Val) rs1564861592
NM_003737.4(DCHS1):c.6208del (p.Arg2070fs) rs1564861489
NM_003850.3(SUCLA2):c.409G>A (p.Gly137Arg) rs1566091565
NM_003982.4(SLC7A7):c.434A>G (p.Gln145Arg) rs1566464038
NM_004070.4(CLCNKA):c.1333_1334delinsTT (p.Ala445Phe) rs1557454514
NM_004070.4(CLCNKA):c.1750_1751del (p.Ser584fs) rs1557456764
NM_004070.4(CLCNKA):c.1957del (p.Leu653fs) rs1557458342
NM_004170.6(SLC1A1):c.1066C>T (p.Arg356Ter) rs773968205
NM_004170.6(SLC1A1):c.115C>T (p.Arg39Ter) rs1182048335
NM_004170.6(SLC1A1):c.1399AAG[1] (p.Lys468del) rs1564072282
NM_004170.6(SLC1A1):c.91G>C (p.Gly31Arg) rs1189243934
NM_004252.5(NHERF1):c.202_204del (p.Glu68del) rs1567820191
NM_004333.6(BRAF):c.2128-2_2128del rs1176881402
NM_004341.5(CAD):c.1830del (p.Asn611fs) rs1558531590
NM_004341.5(CAD):c.2748C>G (p.Tyr916Ter) rs140011289
NM_004341.5(CAD):c.3359A>T (p.Glu1120Val) rs1558538125
NM_004341.5(CAD):c.367_368delinsTT (p.Glu123Leu) rs1558527573
NM_004341.5(CAD):c.43C>T (p.Gln15Ter) rs1558524067
NM_004341.5(CAD):c.5394+2T>C rs1558543576
NM_004341.5(CAD):c.6149G>A (p.Gly2050Glu) rs1232626604
NM_004341.5(CAD):c.739C>A (p.Pro247Thr) rs1558528340
NM_004341.5(CAD):c.812A>G (p.Tyr271Cys) rs1558528838
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr) rs1567263529
NM_004380.3(CREBBP):c.5830dup (p.Ala1944fs) rs1567262786
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs) rs587783507
NM_004380.3(CREBBP):c.6329C>A (p.Ala2110Asp) rs1407363475
NM_004380.3(CREBBP):c.6594GCA[4] (p.Gln2216del) rs746121736
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1469-1G>T rs1561251640
NM_004453.4(ETFDH):c.1658A>G (p.Tyr553Cys) rs1561251884
NM_004453.4(ETFDH):c.841A>T (p.Ile281Phe) rs761854400
NM_004453.4(ETFDH):c.986A>G (p.Tyr329Cys) rs1561247687
NM_004482.4(GALNT3):c.681T>G (p.Ser227Arg) rs1558999126
NM_004484.4(GPC3):c.338-1G>T rs1569426445
NM_004525.3(LRP2):c.10472G>A (p.Cys3491Tyr) rs1558997025
NM_004525.3(LRP2):c.13800+2T>C rs1558966554
NM_004525.3(LRP2):c.1627A>T (p.Met543Leu) rs1175222629
NM_004525.3(LRP2):c.2146C>T (p.Gln716Ter) rs1199071599
NM_004525.3(LRP2):c.4554G>T (p.Trp1518Cys) rs1559033472
NM_004525.3(LRP2):c.6104C>T (p.Pro2035Leu) rs761330913
NM_004560.4(ROR2):c.1400A>G (p.Glu467Gly) rs1564230248
NM_004560.4(ROR2):c.1412C>T (p.Ser471Phe) rs1564230209
NM_004565.2(PEX14):c.987_995dup (p.Asp331_Asp332insGluGluAsp) rs1318692969
NM_004589.4(SCO1):c.284G>A (p.Trp95Ter) rs1215263055
NM_004589.4(SCO1):c.442G>T (p.Glu148Ter) rs533385775
NM_004621.6(TRPC6):c.1478G>C (p.Trp493Ser) rs1565211445
NM_004621.6(TRPC6):c.1549G>A (p.Gly517Ser) rs1565209021
NM_004621.6(TRPC6):c.2284G>A (p.Val762Ile) rs1565206758
NM_004621.6(TRPC6):c.266G>T (p.Ser89Ile) rs1565221699
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys) rs121434394
NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys) rs121434395
NM_004621.6(TRPC6):c.434A>G (p.His145Arg) rs1565221486
NM_004625.4(WNT7A):c.665G>A (p.Arg222Gln) rs1559293147
NM_004625.4(WNT7A):c.733C>T (p.Arg245Cys) rs1559293096
NM_004646.4(NPHS1):c.1592G>T (p.Gly531Val) rs1281962144
NM_004646.4(NPHS1):c.2346GGA[1] (p.Glu783del) rs1568453391
NM_004646.4(NPHS1):c.2588G>T (p.Cys863Phe) rs1568453194
NM_004646.4(NPHS1):c.2758T>A (p.Cys920Ser) rs1568453007
NM_004646.4(NPHS1):c.444_452del (p.Thr149_Val151del) rs1568457279
NM_004646.4(NPHS1):c.460del (p.Gln154fs) rs1568457270
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser) rs1561672362
NM_004787.4(SLIT2):c.151A>G (p.Arg51Gly) rs1560255958
NM_004787.4(SLIT2):c.3610G>T (p.Asp1204Tyr) rs1313077695
NM_004787.4(SLIT2):c.4334dup (p.Asp1445fs) rs1560245735
NM_004793.4(LONP1):c.1847A>C (p.Asn616Thr) rs200839886
NM_004793.4(LONP1):c.2422G>T (p.Glu808Ter) rs1568310102
NM_004793.4(LONP1):c.69_70delinsAG (p.Met23_Leu24delinsIleVal) rs1568332645
NM_004795.4(KL):c.2245_2247delinsTCC (p.Ala749Ser) rs1566509972
NM_004836.7(EIF2AK3):c.1549CTT[1] (p.Leu519del) rs1558652960
NM_004924.6(ACTN4):c.2400_2401delinsTA (p.Val801Met) rs1568751181
NM_004937.3(CTNS):c.1046T>G (p.Phe349Cys) rs1567716891
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu) rs1567713916
NM_004944.4(DNASE1L3):c.146T>G (p.Ile49Ser) rs1421746152
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004998.4(MYO1E):c.1669C>T (p.Arg557Cys) rs1178412708
NM_004998.4(MYO1E):c.3141_3152del (p.Lys1048_Pro1051del) rs1296996682
NM_004998.4(MYO1E):c.386T>C (p.Ile129Thr) rs1566988453
NM_005027.4(PIK3R2):c.772CCG[3] (p.Pro261del) rs1173823214
NM_005027.4(PIK3R2):c.784_795dup (p.Ser262_Pro265dup) rs1568635981
NM_005050.4(ABCD4):c.1276G>T (p.Gly426Cys) rs1566938680
NM_005050.4(ABCD4):c.1713_1714del (p.Met571fs) rs1566909565
NM_005050.4(ABCD4):c.1779_1780del (p.Cys593fs) rs1566906720
NM_005236.3(ERCC4):c.1523_1525del (p.Gly508del) rs1567247992
NM_005236.3(ERCC4):c.1553_1554del (p.Ile518fs) rs1567248043
NM_005236.3(ERCC4):c.2550CTT[1] (p.Phe851del) rs1567254204
NM_005251.3(FOXC2):c.1218CCAGCC[3] (p.407QP[3]) rs780683912
NM_005257.6(GATA6):c.1054G>C (p.Gly352Arg) rs1369316608
NM_005257.6(GATA6):c.1208G>T (p.Arg403Leu) rs1567995625
NM_005257.6(GATA6):c.128CCT[2] (p.Ser45del) rs1201519482
NM_005257.6(GATA6):c.1729_1743dup (p.Pro577_Thr581dup) rs1568011745
NM_005378.6(MYCN):c.228dup (p.Trp77fs) rs1558533831
NM_005461.5(MAFB):c.629G>T (p.Arg210Leu) rs1568743476
NM_005506.4(SCARB2):c.265T>C (p.Tyr89His) rs1560716036
NM_005506.4(SCARB2):c.757G>A (p.Gly253Arg) rs1560708611
NM_005506.4(SCARB2):c.950del (p.Asn317fs) rs1560707800
NM_005515.4(MNX1):c.375CGC[7] (p.Ala133_Ala134del) rs548755417
NM_005515.4(MNX1):c.375CGC[8] (p.Ala134del) rs548755417
NM_005529.7(HSPG2):c.3072_3073del (p.His1025fs) rs1557764902
NM_005529.7(HSPG2):c.428G>A (p.Trp143Ter) rs1557793652
NM_005529.7(HSPG2):c.4377C>A (p.Tyr1459Ter) rs779605727
NM_005529.7(HSPG2):c.5281CTG[1] (p.Leu1762del) rs1557734064
NM_005529.7(HSPG2):c.7916_7938del (p.Pro2639fs) rs1557707870
NM_005562.3(LAMC2):c.2420_2421delinsAT (p.Ser807Asn) rs1558097292
NM_005562.3(LAMC2):c.3328+1G>A rs1475860578
NM_005566.4(LDHA):c.-24-260dup rs1565033896
NM_005566.4(LDHA):c.681del (p.Gln226_Trp227insTer) rs1295332354
NM_005609.4(PYGM):c.1429C>A (p.Pro477Thr) rs1565534916
NM_005609.4(PYGM):c.1697T>G (p.Ile566Ser) rs1565534289
NM_005609.4(PYGM):c.1886A>G (p.Asp629Gly) rs1451559399
NM_005609.4(PYGM):c.2309A>C (p.Asp770Ala) rs1565531372
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.856-2A>C rs1565536363
NM_005816.5(CD96):c.411_413delinsAAT (p.Thr138Ile) rs1559707949
NM_005857.5(ZMPSTE24):c.574G>A (p.Gly192Arg) rs1557775572
NM_005879.3(TRAIP):c.1135G>T (p.Glu379Ter) rs1559444250
NM_005879.3(TRAIP):c.229G>T (p.Glu77Ter) rs1559450889
NM_005883.3(APC2):c.267_268delinsAG (p.Lys90Glu) rs1569138908
NM_005883.3(APC2):c.2695G>T (p.Glu899Ter) rs1236960819
NM_005883.3(APC2):c.322_323inv (p.Ser108Leu)
NM_005883.3(APC2):c.3746G>A (p.Arg1249His) rs894952910
NM_005883.3(APC2):c.4225_4226delinsAC (p.Glu1409Thr) rs1568181486
NM_005883.3(APC2):c.882_883delinsAG (p.Leu295Val) rs1568169115
NM_005883.3(APC2):c.989_1000del (p.Gly330_Gly333del) rs776996014
NM_005902.4(SMAD3):c.1035C>G (p.Asn345Lys) rs1304126587
NM_005902.4(SMAD3):c.244G>A (p.Gly82Arg) rs1566991421
NM_005984.5(SLC25A1):c.906GCT[3] (p.Leu304dup) rs1364606581
NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del) rs1560418164
NM_006005.3(WFS1):c.1613T>C (p.Phe538Ser) rs1560419651
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp) rs1560421124
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro) rs1560422132
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006005.3(WFS1):c.901G>A (p.Glu301Lys) rs1560417758
NM_006015.6(ARID1A):c.114GGC[4] (p.Ala45del) rs587779737
NM_006015.6(ARID1A):c.261_278dup (p.Ala88_Gly93dup) rs749452696
NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup) rs748085214
NM_006015.6(ARID1A):c.67G>T (p.Glu23Ter) rs1557569082
NM_006208.3(ENPP1):c.1136G>T (p.Gly379Val) rs750866854
NM_006254.4(PRKCD):c.1525T>C (p.Cys509Arg) rs1559631701
NM_006306.4(SMC1A):c.855-2A>G rs1569358774
NM_006329.4(FBLN5):c.1del (p.Met1fs) rs1566833780
NM_006332.5(IFI30):c.391-1G>A rs1568643863
NM_006412.4(AGPAT2):c.40CTG[6] (p.Leu16_Leu17dup) rs745429291
NM_006412.4(AGPAT2):c.557A>C (p.Lys186Thr) rs1564290861
NM_006412.4(AGPAT2):c.755T>C (p.Met252Thr) rs1247427045
NM_006579.3(EBP):c.419T>G (p.Phe140Cys) rs1569479908
NM_006580.4(CLDN16):c.-143_-141del rs1560093684
NM_006623.4(PHGDH):c.245A>G (p.Asn82Ser) rs587625944
NM_006623.4(PHGDH):c.439A>C (p.Thr147Pro) rs1361480087
NM_006623.4(PHGDH):c.505A>G (p.Met169Val) rs776977023
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter) rs756518004
NM_006662.3(SRCAP):c.1722_1736del (p.Thr576_Pro580del) rs1567242751
NM_006662.3(SRCAP):c.2126G>A (p.Arg709Gln) rs1248690680
NM_006701.5(TXNL4A):c.23T>G (p.Leu8Arg) rs1257114490
NM_006892.4(DNMT3B):c.677G>A (p.Gly226Glu) rs1568842156
NM_006953.4(UPK3A):c.115A>G (p.Thr39Ala) rs1569103127
NM_006953.4(UPK3A):c.546G>A (p.Trp182Ter) rs1569104902
NM_006953.4(UPK3A):c.548_549inv (p.Ser183Leu)
NM_007293.3(C4A):c.2539G>T (p.Glu847Ter) rs1562707779
NM_012203.2(GRHPR):c.287+2T>C rs1564297234
NM_012203.2(GRHPR):c.598+1G>T rs111256477
NM_012210.4(TRIM32):c.1747G>A (p.Val583Met) rs549155360
NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter) rs1558805781
NM_012233.3(RAB3GAP1):c.831-1G>A rs1157795774
NM_012330.4(KAT6B):c.1800CTC[3] (p.Ser605del) rs1564600378
NM_012330.4(KAT6B):c.3273_3275del (p.Glu1104del) rs1564626392
NM_012414.4(RAB3GAP2):c.1949_1952del (p.Ser650fs) rs1558147821
NM_012414.4(RAB3GAP2):c.304+1G>C rs769690915
NM_013336.4(SEC61A1):c.1284C>G (p.Ile428Met) rs147461692
NM_014140.4(SMARCAL1):c.2428-1G>C rs1559138908
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter) rs1007096305
NM_014270.5(SLC7A9):c.141del (p.Ile48fs) rs1568532461
NM_014270.5(SLC7A9):c.332T>C (p.Leu111Pro) rs1568531811
NM_014270.5(SLC7A9):c.496_510del (p.Asn166_Val170del) rs924060598
NM_014270.5(SLC7A9):c.692C>T (p.Ala231Val) rs1568529881
NM_014317.5(PDSS1):c.413C>T (p.Pro138Leu) rs1564419795
NM_014423.4(AFF4):c.1762del (p.Thr588fs) rs1561484789
NM_014423.4(AFF4):c.516_518dup (p.Glu172_His173insGln) rs755428630
NM_014425.5(INVS):c.2786+2T>C rs1322951938
NM_014425.5(INVS):c.2858G>A (p.Trp953Ter) rs1564195414
NM_014425.5(INVS):c.786dup (p.Ala263fs) rs1564172023
NM_014625.4(NPHS2):c.1022del (p.Pro341fs) rs1558336507
NM_014625.4(NPHS2):c.451+2T>A rs786204708
NM_014639.4(SKIC3):c.1309_1311delinsGTG (p.Leu437Val) rs1561345904
NM_014639.4(SKIC3):c.701C>G (p.Pro234Arg) rs767456366
NM_014704.4(CEP104):c.852C>A (p.Tyr284Ter) rs774609492
NM_014714.4(IFT140):c.3413_3414delinsTA (p.Gln1138Leu) rs1567326635
NM_014714.4(IFT140):c.3786del (p.Glu1262fs) rs1567323053
NM_014714.4(IFT140):c.557G>A (p.Trp186Ter) rs1567413573
NM_014714.4(IFT140):c.903-1G>A rs1567407044
NM_014813.3(LRIG2):c.1569C>A (p.Ser523Arg) rs1557914199
NM_014813.3(LRIG2):c.1657C>T (p.Gln553Ter) rs1557914388
NM_014813.3(LRIG2):c.2087C>A (p.Pro696His) rs1557917271
NM_014813.3(LRIG2):c.2476del (p.Ile826fs) rs1557918089
NM_014813.3(LRIG2):c.3132del (p.Arg1044fs) rs1557924687
NM_014813.3(LRIG2):c.3G>A (p.Met1Ile) rs1557891106
NM_014813.3(LRIG2):c.993del (p.Phe331fs) rs1326615116
NM_014875.3(KIF14):c.2653G>A (p.Gly885Ser) rs1558073204
NM_014956.5(CEP164):c.1480_1482delinsACC (p.Pro494Thr) rs1565542877
NM_014956.5(CEP164):c.266dup (p.Asp89fs) rs1565454034
NM_014956.5(CEP164):c.347_348insT (p.Lys116fs) rs1565455033
NM_014967.5(FAN1):c.2884G>A (p.Val962Met) rs1566932396
NM_014967.5(FAN1):c.671_677dup (p.Pro227fs) rs1566906885
NM_015102.5(NPHP4):c.1046T>G (p.Val349Gly) rs1557804355
NM_015102.5(NPHP4):c.1149_1150insCC (p.Ala384fs) rs1557768696
NM_015102.5(NPHP4):c.1985G>A (p.Trp662Ter) rs1557697311
NM_015102.5(NPHP4):c.2858_2859del (p.Gln953fs) rs1557619525
NM_015102.5(NPHP4):c.287A>G (p.Tyr96Cys) rs1557860994
NM_015102.5(NPHP4):c.3082_3083delinsCT (p.Gly1028Leu) rs1557616029
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs) rs1557580413
NM_015135.3(NUP205):c.1281_1282delinsAT (p.Met427_Gly428delinsIleCys) rs1563117620
NM_015135.3(NUP205):c.788_789inv (p.Ser263Leu)
NM_015158.5(KANK1):c.1576dup (p.Met526fs) rs1564048109
NM_015158.5(KANK1):c.1791del (p.Ser598fs) rs1564050528
NM_015158.5(KANK1):c.3112G>T (p.Glu1038Ter) rs995175818
NM_015158.5(KANK1):c.3117_3122dup (p.1039ED[3]) rs1564107276
NM_015158.5(KANK1):c.3361G>T (p.Glu1121Ter) rs779136001
NM_015272.5(RPGRIP1L):c.1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1729A>T (p.Lys577Ter) rs1567841755
NM_015272.5(RPGRIP1L):c.1892C>T (p.Thr631Ile) rs1567841081
NM_015272.5(RPGRIP1L):c.3285dup (p.Ile1096fs) rs1567818463
NM_015272.5(RPGRIP1L):c.65_66dup (p.Gly23fs) rs1567902051
NM_015330.6(SPECC1L):c.2744-1_2760del rs1258243444
NM_015330.6(SPECC1L):c.3326C>T (p.Thr1109Met) rs1247798129
NM_015338.6(ASXL1):c.1492dup (p.Ala498fs) rs1569325449
NM_015338.6(ASXL1):c.2367dup (p.Glu790Ter) rs1569331249
NM_015338.6(ASXL1):c.2495_2498del (p.Asp832fs) rs1569331922
NM_015375.3(DSTYK):c.136_148del (p.Arg46fs) rs1558632637
NM_015443.4(KANSL1):c.2902del (p.Gln968fs) rs1374665357
NM_015506.3(MMACHC):c.689G>C (p.Arg230Pro) rs771074986
NM_015559.3(SETBP1):c.4564dup (p.Leu1522fs) rs1568058926
NM_015559.3(SETBP1):c.4566_4567insGCCCCC (p.Leu1522_Pro1523insAlaPro) rs1568058955
NM_015559.3(SETBP1):c.4572_4578del (p.Pro1525fs) rs1568058985
NM_015559.3(SETBP1):c.4572_4581del (p.Pro1525fs) rs1568058991
NM_015559.3(SETBP1):c.4572_4584del (p.Pro1526fs) rs1568058996
NM_015559.3(SETBP1):c.4589_4593del (p.Leu1530fs) rs1568059064
NM_015559.3(SETBP1):c.4589_4599del (p.Leu1530fs) rs1568059066
NM_015559.3(SETBP1):c.4597_4598del (p.Pro1533fs) rs1568059107
NM_015599.3(PGM3):c.505C>T (p.Arg169Ter) rs142161221
NM_015631.6(TCTN3):c.1609_1610del (p.Glu537fs) rs1566062743
NM_015631.6(TCTN3):c.1772del (p.Ile591fs) rs1566062536
NM_015631.6(TCTN3):c.640A>T (p.Ile214Phe) rs1566074734
NM_015650.4(TRAF3IP1):c.1085C>G (p.Ser362Ter) rs776946849
NM_015650.4(TRAF3IP1):c.3G>T (p.Met1Ile) rs1559349524
NM_015650.4(TRAF3IP1):c.885_887delinsTAC (p.Lys295_Asn296delinsAsnThr) rs1559356336
NM_015662.3(IFT172):c.1993_1994delinsAT (p.Glu665Met) rs1558384894
NM_015662.3(IFT172):c.2476C>T (p.Gln826Ter) rs1558380331
NM_015884.4(MBTPS2):c.375CTCTTC[1] (p.Ser135_Ser136del) rs1337491993
NM_015910.7(WDPCP):c.184TAT[1] (p.Tyr63del) rs1558700304
NM_015910.7(WDPCP):c.1916-2A>G rs763299856
NM_015937.6(PIGT):c.209C>T (p.Pro70Leu) rs1568944487
NM_015991.4(C1QA):c.605C>T (p.Ser202Leu) rs1557601149
NM_016204.4(GDF2):c.1022G>A (p.Trp341Ter) rs1565755383
NM_016204.4(GDF2):c.443C>G (p.Ala148Gly) rs1565754750
NM_016292.3(TRAP1):c.1728_1729del (p.Lys577fs) rs1567221728
NM_016292.3(TRAP1):c.572dup (p.Ala191_Glu192insTer) rs1567232146
NM_016327.3(UPB1):c.386C>G (p.Thr129Arg) rs145368798
NM_016327.3(UPB1):c.671del (p.Gln224fs) rs1568991185
NM_016335.6(PRODH):c.762G>A (p.Trp254Ter) rs1568994007
NM_016335.6(PRODH):c.933_934inv (p.Met312Val)
NM_016341.4(PLCE1):c.5172del (p.Cys1725fs) rs1564873908
NM_016341.4(PLCE1):c.5764del (p.Glu1922fs) rs1564881408
NM_016341.4(PLCE1):c.6016GAA[1] (p.Glu2007del) rs1564887427
NM_016341.4(PLCE1):c.6081_6082delinsCG (p.Thr2028Ala) rs1564887576
NM_016343.4(CENPF):c.3262_3345del (p.Lys1088_Thr1115del) rs1558183049
NM_016343.4(CENPF):c.343G>T (p.Glu115Ter) rs1558170101
NM_016343.4(CENPF):c.3685AAGGAG[1] (p.1229KE[1]) rs1558183427
NM_016343.4(CENPF):c.4477_4478inv (p.Ser1493Asp)
NM_016343.4(CENPF):c.4986+1G>T rs1558184644
NM_016343.4(CENPF):c.8131C>T (p.Gln2711Ter) rs1311617572
NM_016356.5(DCDC2):c.1181dup (p.His394fs) rs1561878742
NM_016592.5(GNAS):c.3G>A (p.Met1Ile) rs1568906610
NM_016932.5(SIX2):c.337C>T (p.Arg113Cys) rs1558440805
NM_016938.5(EFEMP2):c.242T>C (p.Leu81Pro) rs1565274500
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln) rs1561586322
NM_017565.4(FAM20A):c.871_891del (p.Glu291_Lys297del) rs1568724096
NM_017649.5(CNNM2):c.2171del (p.Pro724fs) rs1564871031
NM_017662.5(TRPM6):c.2313_2314delinsAG (p.Pro772Ala) rs1564018805
NM_017662.5(TRPM6):c.3204del (p.Phe1069fs) rs1564011244
NM_017662.5(TRPM6):c.3435dup (p.Leu1146fs) rs1564006687
NM_017780.4(CHD7):c.1925AGAAAA[3] (p.Lys644_Lys645dup) rs1563595031
NM_017780.4(CHD7):c.3998A>G (p.Tyr1333Cys) rs1563644012
NM_017780.4(CHD7):c.5399A>C (p.Lys1800Thr) rs1481262806
NM_017827.4(SARS2):c.1396dup (p.Glu466fs) rs1568422451
NM_017909.4(RMND1):c.711G>A (p.Trp237Ter) rs1562793396
NM_017909.4(RMND1):c.926T>G (p.Leu309Arg) rs777639435
NM_018051.5(DYNC2I1):c.2108G>T (p.Cys703Phe) rs1563180732
NM_018051.5(DYNC2I1):c.935+2T>C rs1563110445
NM_018062.4(FANCL):c.1076dup (p.Cys359fs) rs1558727422
NM_018062.4(FANCL):c.622G>T (p.Asp208Tyr) rs199564543
NM_018419.3(SOX18):c.130GCGCCCGCC[1] (p.44APA[1]) rs958071350
NM_018419.3(SOX18):c.765_766delinsTT (p.Arg256Trp) rs1569234397
NM_018486.3(HDAC8):c.738-9981del rs782467968
NM_018668.5(VPS33B):c.1030C>A (p.His344Asn) rs368931670
NM_018668.5(VPS33B):c.1170+2T>C rs753008447
NM_018685.5(ANLN):c.2454_2465del (p.Cys819_Val822del) rs1562804930
NM_018685.5(ANLN):c.2476+2T>A rs1562805029
NM_018718.3(CEP41):c.1075_1076insTACAGGTGCCACACCAGGCTAATTTTTTTGTATTTTAAGTAGAGACAGGGTTTCA (p.Pro359delinsLeuGlnValProHisGlnAlaAsnPhePheValPheTer) rs1554416099
NM_018718.3(CEP41):c.148T>C (p.Tyr50His) rs1562984818
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs) rs782610112
NM_018979.4(WNK1):c.159_161delinsTTG (p.Glu53_Tyr54delinsAspCys) rs1565375322
NM_018979.4(WNK1):c.4578_4582delinsGCGCA (p.His1527_Ser1528delinsArgThr) rs1565583433
NM_018979.4(WNK1):c.571A>T (p.Lys191Ter) rs1565377862
NM_018993.4(RIN2):c.-36-2791del rs1568572045
NM_018993.4(RIN2):c.916_917insGC (p.Ser306fs) rs1568686983
NM_018993.4(RIN2):c.923dup (p.Pro309fs) rs1568687023
NM_018993.4(RIN2):c.928_929del (p.Arg310fs) rs1568687231
NM_019026.6(TMCO1):c.26dup (p.Leu10fs) rs35067337
NM_019074.4(DLL4):c.1109C>G (p.Pro370Arg) rs777481123
NM_019074.4(DLL4):c.1508_1510del (p.Thr503_Phe504delinsIle) rs1566879601
NM_019851.3(FGF20):c.100_102delinsACA (p.Pro34Thr) rs1563235398
NM_019892.6(INPP5E):c.1196C>G (p.Ser399Cys) rs1564433154
NM_019892.6(INPP5E):c.443_446del (p.Ser148fs) rs1564437356
NM_020117.11(LARS1):c.2126A>C (p.His709Pro) rs940095401
NM_020191.4(MRPS22):c.42_43delinsAG (p.Arg15Gly) rs1560004052
NM_020208.4(SLC6A20):c.944del (p.Leu315fs) rs1349508135
NM_020223.4(FAM20C):c.1415C>T (p.Thr472Met) rs1562400300
NM_020223.4(FAM20C):c.344del (p.Glu115fs) rs1562357102
NM_020223.4(FAM20C):c.346_347insT (p.Pro116fs) rs1562357112
NM_020312.4(COQ9):c.5_7delinsTGA (p.Ala2_Ala3delinsValThr) rs1567576392
NM_020381.4(PDSS2):c.494T>C (p.Ile165Thr) rs1562426038
NM_020401.4(NUP107):c.1175-2A>G rs1565697201
NM_020436.5(SALL4):c.2591_2592delinsTT (p.Arg864Leu) rs1568862327
NM_020632.3(ATP6V0A4):c.1430T>G (p.Phe477Cys) rs1562996966
NM_020632.3(ATP6V0A4):c.1675A>T (p.Ser559Cys) rs369486474
NM_020632.3(ATP6V0A4):c.2173A>G (p.Ile725Val) rs1562978360
NM_020639.3(RIPK4):c.1730C>G (p.Ala577Gly) rs1569098803
NM_020779.4(WDR35):c.1408C>G (p.His470Asp) rs1558340974
NM_020779.4(WDR35):c.2024C>T (p.Ala675Val) rs1558332966
NM_020779.4(WDR35):c.2910C>A (p.Tyr970Ter) rs1558328055
NM_020810.3(TRMT5):c.270del (p.Phe90fs) rs1443616611
NM_020832.3(ZNF687):c.2635-1G>A rs1557773195
NM_020937.4(FANCM):c.1335T>G (p.Tyr445Ter) rs1270367757
NM_020937.4(FANCM):c.1645_1661del (p.Gly549fs) rs1566748490
NM_020937.4(FANCM):c.1815AAG[1] (p.Arg606del) rs1566751800
NM_020937.4(FANCM):c.6016C>T (p.Gln2006Ter) rs1566794123
NM_020964.3(EPG5):c.4195G>T (p.Glu1399Ter) rs1568145102
NM_020964.3(EPG5):c.7304dup (p.Asn2435fs) rs1568094308
NM_021120.4(DLG3):c.265_266delinsAA (p.Pro89Lys) rs1569266884
NM_021828.5(HPSE2):c.1370T>C (p.Leu457Ser) rs1564914943
NM_021871.4(FGA):c.193C>A (p.Pro65Thr) rs1560827531
NM_021922.3(FANCE):c.524del (p.Gly175fs) rs773363446
NM_021922.3(FANCE):c.742del (p.Ala248fs) rs1561790031
NM_022098.4(XPNPEP3):c.62C>A (p.Ser21Ter) rs1569009249
NM_022167.4(XYLT2):c.1792GAC[1] (p.Asp599del) rs1567807866
NM_022369.4(STRA6):c.1518C>A (p.Asn506Lys) rs1567178204
NM_022369.4(STRA6):c.1594C>G (p.Arg532Gly) rs570214336
NM_022369.4(STRA6):c.1917G>A (p.Trp639Ter) rs1567175757
NM_022369.4(STRA6):c.386_387delinsCA (p.Leu129Pro) rs1567193252
NM_022454.4(SOX17):c.1223dup (p.Tyr408Ter) rs1563872772
NM_022454.4(SOX17):c.532G>T (p.Gly178Cys) rs267607082
NM_022454.4(SOX17):c.807_808delinsAT (p.Met270Leu) rs1563871910
NM_022455.5(NSD1):c.4607G>T (p.Gly1536Val) rs1562255664
NM_022455.5(NSD1):c.7892C>G (p.Ser2631Ter) rs758339424
NM_022489.4(INF2):c.1262CACCCC[5] (p.Pro427_Pro428dup) rs573567814
NM_022489.4(INF2):c.1281_1283del (p.Pro428del) rs1566781582
NM_022489.4(INF2):c.254C>T (p.Ser85Leu) rs1317776692
NM_022489.4(INF2):c.3530_3531insCGAAGA (p.1171_1172DE[4]) rs1566786530
NM_022489.4(INF2):c.3745del (p.Gln1249fs) rs1566787065
NM_022489.4(INF2):c.452G>A (p.Cys151Tyr) rs1566778512
NM_022489.4(INF2):c.530G>A (p.Arg177His) rs1566778651
NM_022489.4(INF2):c.530G>C (p.Arg177Pro) rs1566778651
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022489.4(INF2):c.89T>G (p.Leu30Arg) rs1566777417
NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro) rs1565055434
NM_022725.4(FANCF):c.881G>A (p.Trp294Ter) rs912132298
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1671G>T (p.Leu557Phe) rs1280366603
NM_024079.5(ALG8):c.139_141dup (p.Thr47dup) rs1565359969
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser) rs1565349263
NM_024079.5(ALG8):c.851A>G (p.Asn284Ser) rs1565349211
NM_024408.4(NOTCH2):c.18del (p.Ala7fs) rs372504208
NM_024408.4(NOTCH2):c.3934C>T (p.Pro1312Ser) rs1557807220
NM_024408.4(NOTCH2):c.7391ACA[2] (p.Asn2466del) rs1288820640
NM_024408.4(NOTCH2):c.782T>G (p.Ile261Ser) rs1202374604
NM_024426.6(WT1):c.1448G>A (p.Ser483Asn) rs1564967706
NM_024426.6(WT1):c.609_611delinsTGA (p.Ala204Glu) rs1565001078
NM_024529.5(CDC73):c.430G>T (p.Glu144Ter) rs1558283535
NM_024649.5(BBS1):c.1110+2T>G rs1565286223
NM_024649.5(BBS1):c.796_800del (p.Ala266fs) rs1565284534
NM_024675.4(PALB2):c.1042_1044del (p.Gln348del) rs1567221745
NM_024675.4(PALB2):c.1263_1265dup (p.Lys422dup) rs1567221237
NM_024675.4(PALB2):c.3329_3331del (p.Leu1110del) rs1567206766
NM_024678.6(NARS2):c.390T>A (p.Tyr130Ter) rs1418417084
NM_024685.4(BBS10):c.290T>G (p.Leu97Arg) rs1565810252
NM_024753.5(TTC21B):c.1227_1230del (p.Lys410fs) rs1559066279
NM_024753.5(TTC21B):c.1709C>T (p.Ala570Val) rs1559058045
NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter) rs1559056633
NM_024753.5(TTC21B):c.2078_2087del (p.Lys693fs) rs1559056530
NM_024753.5(TTC21B):c.3397dup (p.Thr1133fs) rs1559040678
NM_024753.5(TTC21B):c.489del (p.Ala164fs) rs1559074956
NM_025074.7(FRAS1):c.11502del (p.Ile3835fs) rs1560432740
NM_025074.7(FRAS1):c.1867T>C (p.Cys623Arg) rs1560650709
NM_025074.7(FRAS1):c.2571del (p.Ala856_Cys857insTer) rs1560681144
NM_025099.6(CTC1):c.1396del (p.Leu466fs) rs1567608566
NM_025114.4(CEP290):c.1392_1393insCTACTTA (p.Ile465fs) rs1565900023
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter) rs1203763812
NM_025114.4(CEP290):c.2708T>G (p.Leu903Ter) rs768822859
NM_025114.4(CEP290):c.2738_2742del (p.Glu913fs) rs1565876618
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.4704+1G>T rs1565835538
NM_025129.5(FUZ):c.1253_1255del (p.Leu418_Ter419delinsArg) rs1568595114
NM_025129.5(FUZ):c.234-2A>G rs1417603679
NM_025129.5(FUZ):c.387+2T>G rs1568608172
NM_025129.5(FUZ):c.630dup (p.Ser211fs) rs1568602961
NM_025129.5(FUZ):c.716_727del (p.Thr239_Pro242del) rs1568602120
NM_025129.5(FUZ):c.850dup (p.Arg284fs) rs1568600381
NM_025132.4(WDR19):c.1809del (p.Val604fs) rs1560514557
NM_025132.4(WDR19):c.1883ACA[1] (p.Asn629del) rs1560514751
NM_025132.4(WDR19):c.2252A>T (p.Glu751Val) rs778651224
NM_025132.4(WDR19):c.991G>T (p.Gly331Cys) rs1560501301
NM_030582.4(COL18A1):c.1278+5_1278+8del rs1568898560
NM_030665.4(RAI1):c.834GCA[16] (p.Gln289_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[22] (p.Gln283_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[7] (p.Gln286_Gln291del) rs371983878
NM_030667.3(PTPRO):c.948_951dup (p.Pro318fs) rs1565668100
NM_030761.5(WNT4):c.346T>C (p.Ser116Pro) rs1557923349
NM_030787.4(CFHR5):c.1195C>T (p.Gln399Ter) rs772780646
NM_030787.4(CFHR5):c.1225del (p.Asp409fs) rs771972507
NM_030787.4(CFHR5):c.896dup (p.Asn299fs) rs1233073714
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del) rs1034496756
NM_030943.4(AMN):c.1347_1348insTCGGGCC (p.Glu450fs) rs1566829819
NM_030943.4(AMN):c.1360T>A (p.Ter454Arg) rs1566829872
NM_031885.5(BBS2):c.1123G>C (p.Gly375Arg) rs1018314879
NM_032043.3(BRIP1):c.1323_1329del (p.Cys442fs) rs1567828971
NM_032387.5(WNK4):c.1095_1096delinsTT (p.Met365Ile) rs1568027491
NM_032387.5(WNK4):c.1742-1G>A rs753483211
NM_032387.5(WNK4):c.3293del (p.Gly1098fs) rs1315191413
NM_032444.4(SLX4):c.2977G>T (p.Glu993Ter) rs1567170533
NM_032444.4(SLX4):c.3331_3332insTA (p.Asn1111fs) rs1567170211
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter) rs200628199
NM_032444.4(SLX4):c.5153+1G>A rs1567166275
NM_032575.3(GLIS2):c.751A>T (p.Lys251Ter) rs1567223895
NM_032833.5(PPP1R15B):c.1342_1362del (p.Trp448_Asp454del) rs1558216603
NM_032833.5(PPP1R15B):c.391_392inv (p.Ser131Asp)
NM_032977.4(CASP10):c.176_177delinsGG (p.Ser59Trp) rs1559292275
NM_032977.4(CASP10):c.604_605insGTGTCACG (p.Asp202fs) rs1559299395
NM_032977.4(CASP10):c.927_928del (p.Leu310fs) rs1559308812
NM_033028.5(BBS4):c.1236del (p.Glu412fs) rs1226386838
NM_033380.3(COL4A5):c.146A>G (p.Glu49Gly) rs1569486475
NM_033380.3(COL4A5):c.1508G>T (p.Gly503Val) rs1569493679
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_033380.3(COL4A5):c.2332G>A (p.Gly778Ser) rs104886174
NM_033380.3(COL4A5):c.2395+1G>C rs869025331
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_033380.3(COL4A5):c.2821G>T (p.Gly941Cys) rs104886196
NM_033380.3(COL4A5):c.2917+1G>C rs104886371
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_033380.3(COL4A5):c.3017G>A (p.Gly1006Asp) rs104886202
NM_033380.3(COL4A5):c.3170G>T (p.Gly1057Val) rs1569499010
NM_033380.3(COL4A5):c.3310G>T (p.Gly1104Cys) rs1569504072
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys) rs1569505374
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.395G>A (p.Gly132Glu) rs1569488841
NM_033380.3(COL4A5):c.4155_4157del (p.Ile1386del) rs1569507545
NM_033380.3(COL4A5):c.4159_4170del (p.Pro1387_Pro1390del) rs1569507550
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.4315+1G>C rs587776403
NM_033380.3(COL4A5):c.4315G>C (p.Gly1439Arg) rs1569508169
NM_033380.3(COL4A5):c.4528+1G>A rs104886413
NM_033380.3(COL4A5):c.4960T>C (p.Trp1654Arg) rs1569509354
NM_033380.3(COL4A5):c.49_50del (p.Leu17fs) rs104886427
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter) rs281874753
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp) rs1569489328
NM_033380.3(COL4A5):c.546+2dup rs1569489353
NM_033380.3(COL4A5):c.546+4_546+7del rs1569489348
NM_033380.3(COL4A5):c.572_583del (p.Pro191_Gly195delinsArg) rs1569489843
NM_033380.3(COL4A5):c.594dup (p.Pro199fs) rs1569489863
NM_033380.3(COL4A5):c.635del (p.Pro212fs) rs104886065
NM_033380.3(COL4A5):c.646G>A (p.Gly216Arg) rs104886067
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu) rs104886074
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala) rs1569490592
NM_052844.4(DYNC2I2):c.1489_1490insCAGCA (p.Leu497fs) rs1564336367
NM_052989.3(IFT122):c.1733dup (p.Lys579fs) rs1559928481
NM_052989.3(IFT122):c.213del (p.Ser72fs) rs1559861150
NM_057176.3(BSND):c.413_415del (p.Gln138del) rs1557485317
NM_078480.3(PUF60):c.1264GAG[1] (p.Glu423del) rs1489383612
NM_078480.3(PUF60):c.1328C>A (p.Ser443Ter) rs867646760
NM_080425.4(GNAS):c.1150_1176dup (p.Ala392_Arg393insGlyAlaAlaSerAlaAspThrAlaAla) rs1395514695
NM_133433.4(NIPBL):c.6498+4_6498+9del rs1167724948
NM_133433.4(NIPBL):c.7379C>G (p.Ser2460Cys) rs1561222713
NM_138281.3(DLX4):c.402_403delinsTA (p.Gln134_Arg135delinsHisSer) rs1567907771
NM_138281.3(DLX4):c.611_613delinsACA (p.Leu204_Trp205delinsHisArg) rs1567908151
NM_138413.4(HOGA1):c.122_123del (p.Pro41fs) rs1564753668
NM_138413.4(HOGA1):c.520A>G (p.Thr174Ala) rs1564759164
NM_138694.4(PKHD1):c.11603_11604del (p.Val3868fs) rs1561991558
NM_138694.4(PKHD1):c.3334_3335insTTT (p.Thr1112delinsIleSer) rs1562188854
NM_138694.4(PKHD1):c.7118T>C (p.Leu2373Pro) rs1562532468
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala) rs1562410143
NM_138694.4(PKHD1):c.9560del (p.Ser3187fs) rs1562222437
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) rs1562221540
NM_138959.3(VANGL1):c.1267A>T (p.Ile423Phe) rs1557776126
NM_138959.3(VANGL1):c.1387T>G (p.Trp463Gly) rs1557778504
NM_139027.6(ADAMTS13):c.1522T>C (p.Cys508Arg) rs1564423616
NM_139027.6(ADAMTS13):c.1940del (p.Gly647fs) rs1564426640
NM_139027.6(ADAMTS13):c.540G>T (p.Arg180Ser) rs1564409613
NM_139058.3(ARX):c.1017G>C (p.Gln339His) rs1569395265
NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del) rs387906492
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621
NM_139058.3(ARX):c.748G>T (p.Glu250Ter) rs1315423792
NM_144585.4(SLC22A12):c.361del (p.Val121fs) rs1565132840
NM_144596.4(TTC8):c.1235A>T (p.Asp412Val) rs1566859873
NM_144773.4(PROKR2):c.332T>G (p.Met111Arg) rs914930539
NM_144997.7(FLCN):c.583G>T (p.Gly195Ter) rs1567819544
NM_147127.5(EVC2):c.3358C>T (p.Gln1120Ter) rs951561591
NM_147127.5(EVC2):c.419_424del (p.Phe140_Arg142delinsTer) rs1560233040
NM_147127.5(EVC2):c.499_500del (p.Ile167fs) rs1560230203
NM_147127.5(EVC2):c.710del (p.Gly237fs) rs1560223934
NM_148960.3(CLDN19):c.626+15_626+17delinsTGT rs1557550020
NM_152383.5(DIS3L2):c.2496+1G>T rs1559220985
NM_152383.5(DIS3L2):c.33_34delinsAA (p.Pro12Thr) rs1559542257
NM_152384.3(BBS5):c.184_185del (p.Leu62fs) rs776675335
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_153240.5(NPHP3):c.1887+1G>A rs1560008103
NM_153240.5(NPHP3):c.1887+2T>A rs1560008096
NM_153240.5(NPHP3):c.2692A>G (p.Arg898Gly) rs1560003115
NM_153240.5(NPHP3):c.3739A>T (p.Lys1247Ter) rs1559999153
NM_153240.5(NPHP3):c.3837dup (p.Ala1280fs) rs1559998795
NM_153240.5(NPHP3):c.3934del (p.Thr1312fs) rs1559998693
NM_153704.6(TMEM67):c.1063C>T (p.Gln355Ter) rs1563459389
NM_153704.6(TMEM67):c.1122C>A (p.Tyr374Ter) rs1563460098
NM_153704.6(TMEM67):c.1676C>T (p.Thr559Ile) rs1563470521
NM_153704.6(TMEM67):c.2647T>C (p.Ser883Pro) rs548693232
NM_153704.6(TMEM67):c.2702T>G (p.Leu901Arg) rs1563482155
NM_153704.6(TMEM67):c.3G>T (p.Met1Ile) rs1563672343
NM_153704.6(TMEM67):c.458G>T (p.Cys153Phe) rs1563679434
NM_153717.3(EVC):c.2504C>A (p.Ser835Ter) rs1560439043
NM_153717.3(EVC):c.252del (p.Arg85fs) rs1560274387
NM_153717.3(EVC):c.2897_2918dup (p.Ser974fs) rs1560450412
NM_153766.3(KCNJ1):c.1000C>T (p.Pro334Ser) rs1565521547
NM_153766.3(KCNJ1):c.305G>A (p.Cys102Tyr) rs1565522472
NM_153766.3(KCNJ1):c.623A>G (p.Tyr208Cys) rs1565522061
NM_170707.4(LMNA):c.1603G>C (p.Gly535Arg) rs1304542176
NM_170784.3(MKKS):c.1462_1463delinsAT (p.Ala488Ile) rs1568662701
NM_170784.3(MKKS):c.624_625del (p.Arg208fs) rs762613490
NM_172362.3(KCNH1):c.675G>T (p.Leu225Phe) rs1558570068
NM_173551.5(ANKS6):c.130_157del (p.Glu44fs) rs1564236717
NM_173551.5(ANKS6):c.1618-1G>C rs1564206959
NM_173551.5(ANKS6):c.2473C>T (p.Gln825Ter) rs1564177767
NM_173630.4(RTTN):c.2789-1G>C rs1467484094
NM_173630.4(RTTN):c.2T>C (p.Met1Thr) rs1568571414
NM_173689.7(CRB2):c.1046G>A (p.Gly349Asp) rs1564372397
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223
NM_173689.7(CRB2):c.34dup (p.Gln12fs) rs1442463365
NM_173689.7(CRB2):c.3700_3703del (p.Leu1234fs) rs1564380625
NM_174916.3(UBR1):c.2380-20_2380-2del rs1567130338
NM_175875.5(SIX5):c.391G>C (p.Ala131Pro) rs1568565921
NM_176787.5(PIGN):c.130AGA[1] (p.Arg45del) rs1568244811
NM_176787.5(PIGN):c.2180+1G>C rs1568169374
NM_176787.5(PIGN):c.2620-2A>T rs1568143319
NM_176787.5(PIGN):c.2685T>A (p.Tyr895Ter) rs760573255
NM_178170.3(NEK8):c.2012T>C (p.Val671Ala) rs1567762506
NM_181712.5(KANK4):c.676G>T (p.Glu226Ter) rs757119605
NM_182476.3(COQ6):c.142_143dup (p.Ala49fs) rs1566679742
NM_182916.3(TRNT1):c.472_473del (p.Met158fs) rs1269738842
NM_198076.6(COX20):c.19_33dup (p.Pro7_Glu11dup) rs1558174241
NM_198252.3(GSN):c.-9-2091_-9-2064del rs764841269
NM_198252.3(GSN):c.1390_1392delinsTAT (p.Glu464Tyr) rs1564578803
NM_198428.3(BBS9):c.558C>G (p.Tyr186Ter) rs1562888583
NM_198525.3(KIF7):c.1296_1297delinsAA (p.Pro433Thr) rs1567067173
NM_198525.3(KIF7):c.154_156delinsAAA (p.Asp52Lys) rs1567069719
NM_198525.3(KIF7):c.2737_2738delinsTG (p.Lys913Trp) rs1567059453
NM_198525.3(KIF7):c.3518-1G>C rs1567057019
NM_198525.3(KIF7):c.839T>C (p.Leu280Pro) rs1567067749
NM_198525.3(KIF7):c.983C>A (p.Pro328His) rs1567067501
NM_203486.3(DLL3):c.388G>T (p.Glu130Ter) rs1424242745
NM_203486.3(DLL3):c.529_535del (p.Arg177fs) rs1452482256
NM_203486.3(DLL3):c.67del (p.Gln23fs) rs1568447774
NM_207361.6(FREM2):c.105_106delinsTT (p.Leu36Phe) rs1566101411
NM_207361.6(FREM2):c.1541_1542delinsGT (p.Ala514Gly) rs1566103099
NM_207361.6(FREM2):c.1671T>G (p.Asp557Glu) rs768299920
NM_207361.6(FREM2):c.7002_7005del (p.Glu2335fs) rs768342700
NM_207361.6(FREM2):c.8612T>C (p.Leu2871Pro) rs1566175991
NM_212482.4(FN1):c.44_46delinsTGG (p.Gln15_Cys16delinsLeuGly) rs1559629940
NM_213606.4(SLC16A12):c.145T>G (p.Trp49Gly) rs1564577020
NM_213606.4(SLC16A12):c.662del (p.Gly221fs) rs1564568546
NR_178195.1(LFNG):n.265_268GATG[5] rs34637446
NR_178195.1(LFNG):n.265_268GATG[8] rs34637446

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