ClinVar Miner

Variants with conflicting interpretations "pathogenic" from CeGaT Center for Human Genetics Tuebingen and "likely pathogenic" from any submitter

Minimum review status of the submission from CeGaT Center for Human Genetics Tuebingen: Collection method of the submission from CeGaT Center for Human Genetics Tuebingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 928
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) rs138435128 0.00058
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr) rs374016704 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_005186.4(CAPN1):c.267+2T>C rs199559271 0.00024
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) rs189261858 0.00023
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly) rs145718830 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121 0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00019
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000666.3(ACY1):c.575dup (p.Ser192fs) rs770702363 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala) rs370411488 0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly) rs199501657 0.00010
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln) rs147757966 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu) rs149095705 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) rs752509098 0.00005
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter) rs200761047 0.00005
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter) rs560339163 0.00005
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His) rs141823837 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter) rs757793925 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179 0.00004
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) rs201994921 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) rs281864919 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532 0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln) rs370455806 0.00003
NM_018075.5(ANO10):c.337+1G>A rs765592794 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_173551.5(ANKS6):c.1973-3C>G rs397514257 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp) rs121908464 0.00003
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000207.3(INS):c.266G>A (p.Arg89His) rs28933985 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000336.3(SCNN1B):c.1542+1G>A rs550424284 0.00002
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000448.3(RAG1):c.2210G>A (p.Arg737His) rs104894286 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001298.3(CNGA3):c.668G>A (p.Arg223Gln) rs762668060 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys) rs774614339 0.00002
NM_006907.4(PYCR1):c.540+1G>A rs752297179 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_020771.4(HACE1):c.994C>T (p.Arg332Ter) rs759641985 0.00002
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile) rs1372719653 0.00002
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val) rs1395504465 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.1930+1G>A rs771002652 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000157.4(GBA1):c.701G>A (p.Gly234Glu) rs74462743 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350 0.00001
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly) rs1192702664 0.00001
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr) rs374403765 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) rs769765227 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter) rs397514608 0.00001
NM_001330691.3(CEP78):c.1424del (p.Val475fs) rs1196886096 0.00001
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter) rs753824908 0.00001
NM_001849.4(COL6A2):c.1396-1G>A rs1331260332 0.00001
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002180.3(IGHMBP2):c.547+1G>A rs1057518588 0.00001
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter) rs141698985 0.00001
NM_002662.5(PLD1):c.2430-1G>A rs760657350 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter) rs1438223502 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002887.4(RARS1):c.1452+1G>A rs1358682351 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030 0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) rs778207102 0.00001
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256 0.00001
NM_004614.5(TK2):c.389G>A (p.Arg130Gln) rs281865492 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_006494.4(ERF):c.652C>T (p.Arg218Ter) rs1425504754 0.00001
NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu) rs772475828 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_007289.4(MME):c.1781-2A>G rs765231758 0.00001
NM_007289.4(MME):c.202C>T (p.Arg68Ter) rs201692212 0.00001
NM_007289.4(MME):c.440-2A>C rs200435950 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter) rs955766374 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His) rs758440592 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg) rs749110767 0.00001
NM_017837.4(PIGV):c.607C>T (p.Arg203Cys) rs149690056 0.00001
NM_017841.4(SDHAF2):c.37-1G>C rs761956866 0.00001
NM_018129.4(PNPO):c.471C>A (p.Tyr157Ter) rs148597698 0.00001
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter) rs1269750663 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) rs104894342 0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro) rs104894703 0.00001
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp) rs1391712320 0.00001
NM_058216.3(RAD51C):c.905-2del rs876658652 0.00001
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser) rs766889023 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.3812-2A>G rs758733024 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter) rs753138577 0.00001
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3664G>A (p.Asp1222Asn) rs2138663905
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter) rs80358870
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000080.4(CHRNE):c.1220-1G>C rs373710822
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp) rs1460714146
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg) rs72658129
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu) rs2072040353
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000092.5(COL4A4):c.914_930+29del rs1553683757
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup) rs193922900
NM_000095.3(COMP):c.1502G>A (p.Gly501Asp) rs1555791425
NM_000095.3(COMP):c.805G>A (p.Asp269Asn) rs2145903436
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1746C>G (p.Cys582Trp)
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr) rs1057523406
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000157.4(GBA1):c.1240G>C (p.Val414Leu) rs398123528
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) rs398123528
NM_000161.3(GCH1):c.626+1G>A rs1555358507
NM_000162.5(GCK):c.617C>T (p.Thr206Met) rs1441649062
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000169.3(GLA):c.983G>T (p.Gly328Val) rs28935492
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter) rs587781372
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) rs730880649
NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp) rs727503266
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter) rs782598897
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000287.4(PEX6):c.1027del (p.Arg343fs) rs1388178333
NM_000312.4(PROC):c.1216A>G (p.Met406Val) rs1553425459
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000342.4(SLC4A1):c.1890+1G>A rs1567830555
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.571-1G>T rs61748533
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000384.3(APOB):c.5564dup (p.Val1856fs)
NM_000388.4(CASR):c.518T>C (p.Leu173Pro) rs2107631736
NM_000390.4(CHM):c.49+5G>A rs1057521475
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000426.4(LAMA2):c.1762del (p.Ala588fs) rs786205654
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr) rs2046888772
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000444.6(PHEX):c.2198G>A (p.Cys733Tyr) rs1057517981
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala) rs1200906022
NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000496.3(CRYBB2):c.562C>T (p.Arg188Cys) rs2146095454
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1659C>G (p.Tyr553Ter) rs564258872
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.235-1G>T rs1571819375
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.3(RYR1):c.12110del (p.Gly4037fs) rs1555795308
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) rs45517398
NM_000550.3(TYRP1):c.385+1G>C
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000587.4(C7):c.633_643del (p.Ser212fs) rs770367814
NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del) rs900084108
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_001005242.3(PKP2):c.2247del (p.Ser750fs) rs2137708500
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001024630.4(RUNX2):c.860-1G>T rs2150421181
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs) rs2067140574
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter) rs62640594
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer) rs2065919863
NM_001110792.2(MECP2):c.1244del (p.Pro415fs) rs781843758
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg) rs1057518011
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127511.3(APC):c.-191T>C rs879253783
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001142800.2(EYS):c.6079-2A>G
NM_001142800.2(EYS):c.7055+1G>A rs1582079626
NM_001142800.2(EYS):c.7228_7228+1delinsTA rs1772614934
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp) rs1475000361
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter) rs1085307794
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001195553.2(DCX):c.556C>T (p.Arg186Cys) rs587783562
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter) rs200497972
NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu) rs1445829303
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs) rs2082695884
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter) rs1057518991
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) rs387907576
NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu) rs144451841
NM_001297.5(CNGB1):c.1120_1121+2del rs778884136
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter) rs745333246
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001353345.2(SETD1B):c.4170_4171del (p.Gly1392fs) rs2137578021
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln) rs750848278
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001369268.1(ACAN):c.6912C>A (p.Cys2304Ter)
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001371596.2(MFSD8):c.553+1G>A rs1553950197
NM_001372044.2(SHANK3):c.2455+1G>C
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs) rs1603447373
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175
NM_001378778.1(MPDZ):c.1087-1G>A rs1463452514
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu) rs1582323732
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) rs587777385
NM_001791.4(CDC42):c.101C>A (p.Pro34Gln) rs1645575465
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg) rs1877796698
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002351.5(SH2D1A):c.164G>A (p.Arg55Gln) rs111033630
NM_002381.5(MATN3):c.359C>T (p.Thr120Met) rs397515546
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002693.3(POLG):c.3601del (p.Ser1201fs) rs781311846
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_002971.6(SATB1):c.1588G>A (p.Glu530Lys) rs1694399198
NM_003042.4(SLC6A1):c.1024G>A (p.Val342Met) rs760836450
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003106.4(SOX2):c.368A>G (p.Asp123Gly) rs1249553271
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) rs776376695
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003998.4(NFKB1):c.407+1G>A rs1723945421
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004181.5(UCHL1):c.349_364del (p.Phe117fs) rs1781070341
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004273.5(CHST3):c.533dup (p.Ala179fs) rs769540174
NM_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) rs756385625
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004415.4(DSP):c.4397dup (p.Gln1467fs) rs1581817513
NM_004614.5(TK2):c.125-1_127del
NM_004628.5(XPC):c.413-24A>G rs794729657
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu) rs797044970
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.5A>G (p.Glu2Gly) rs1830025657
NM_005529.7(HSPG2):c.3892C>T (p.Gln1298Ter)
NM_005559.4(LAMA1):c.768+1G>A rs769174266
NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter) rs1660173338
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter) rs869312183
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) rs777904670
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006218.4(PIK3CA):c.1340_1366del (p.Pro447_Leu455del)
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs) rs758487568
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006269.2(RP1):c.2296C>T (p.Gln766Ter) rs775731489
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter) rs1556890135
NM_006343.3(MERTK):c.1144+1G>A rs2104733978
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006612.6(KIF1C):c.305G>C (p.Gly102Ala) rs1974586605
NM_006767.4(LZTR1):c.1786-2A>G rs2147968271
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs) rs756131136
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala) rs80357149
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) rs80358303
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs) rs772267579
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys) rs556400279
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_014874.4(MFN2):c.1082A>G (p.His361Arg) rs1064793170
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly) rs1554504681
NM_015488.5(PNKD):c.26C>T (p.Ala9Val) rs121434511
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_016648.4(LARP7):c.1089_1090del (p.His363fs) rs772451147
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017646.6(TRIT1):c.334del (p.Arg112fs) rs536000212
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs) rs869320719
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017934.7(PHIP):c.919_923del (p.Ile307fs) rs771126523
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.472+1G>T
NM_018082.6(POLR3B):c.2376del (p.Met794fs) rs1592752356
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_018684.4(ZC4H2):c.225+5G>A rs1057520298
NM_018706.7(DHTKD1):c.467dup (p.Thr157fs) rs1554791360
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs) rs1085307499
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) rs370521183
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020919.4(ALS2):c.1640+1G>A rs2106074229
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs) rs2084966849
NM_021120.4(DLG3):c.2035C>T (p.Arg679Ter) rs1602991098
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_022834.5(VWA1):c.62_71dup (p.Gly25fs) rs749383814
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024577.4(SH3TC2):c.805+2T>C rs139052887
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter) rs1555461875
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs) rs1555744178
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_033360.4(KRAS):c.175G>T (p.Ala59Ser) rs121913528
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) rs1407446171
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr) rs1057519433
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val) rs869320701
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs) rs886044584
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) rs794727405
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.610+364G>A rs983041061
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_139058.3(ARX):c.1471dup (p.Leu491fs) rs797045292
NM_145200.3(CABP4):c.800_801delAG rs786205249
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs) rs1260966131
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152419.3(HGSNAT):c.1726G>T (p.Gly576Ter) rs1366558211
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) rs763527391
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) rs376226764
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182943.3(PLOD2):c.1500+1G>T rs1936442200
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr) rs796065306
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs) rs1057517754
NM_194454.3(KRIT1):c.729+1G>A rs1563305064
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_213599.3(ANO5):c.206_207del (p.Asp69fs) rs1254796261

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