ClinVar Miner

List of variants reported as uncertain significance for diffuse palmoplantar keratoderma

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1064
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_004782.4(SNAP29):c.*2111G>T rs551094177 0.00257
NM_004782.4(SNAP29):c.*2412C>T rs528779987 0.00229
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_000226.4(KRT9):c.1560C>T (p.Tyr520=) rs116616468 0.00178
NM_004782.4(SNAP29):c.*2501G>A rs112984030 0.00171
NM_004782.4(SNAP29):c.*519A>T rs200263284 0.00167
NM_004782.4(SNAP29):c.*255G>A rs187586025 0.00158
NM_000226.4(KRT9):c.1125C>T (p.His375=) rs114867228 0.00143
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_000226.4(KRT9):c.1120C>T (p.Arg374Trp) rs116216460 0.00134
NM_004782.4(SNAP29):c.-76G>A rs376809644 0.00129
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_004782.4(SNAP29):c.*61C>G rs539155980 0.00109
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_005557.4(KRT16):c.539C>T (p.Ala180Val) rs142750223 0.00104
NM_000226.4(KRT9):c.*181G>A rs180874109 0.00103
NM_000226.4(KRT9):c.1290C>T (p.Ile430=) rs145501803 0.00093
NM_004782.4(SNAP29):c.*242G>A rs538225254 0.00088
NM_004782.4(SNAP29):c.*2777G>A rs374333957 0.00087
NM_004782.4(SNAP29):c.*840G>C rs554942555 0.00081
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_020427.3(SLURP1):c.-7C>T rs201610070 0.00067
NM_025216.3(WNT10A):c.-123C>A rs928677784 0.00067
NM_000226.4(KRT9):c.*318C>T rs573602616 0.00066
NM_004782.4(SNAP29):c.*1543A>C rs9613204 0.00064
NM_004782.4(SNAP29):c.*2179G>A rs553271593 0.00064
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707 0.00062
NM_020751.3(COG6):c.1759C>T (p.Arg587Cys) rs144843064 0.00061
NM_024009.3(GJB3):c.*429G>A rs545843697 0.00061
NM_004004.6(GJB2):c.*115A>C rs557953001 0.00058
NM_001110219.3(GJB6):c.405G>A (p.Thr135=) rs145438428 0.00056
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=) rs143736590 0.00053
NM_004782.4(SNAP29):c.*1570T>C rs534348201 0.00053
NM_004782.4(SNAP29):c.*2028G>A rs563529946 0.00053
NM_004782.4(SNAP29):c.*1315C>G rs41277337 0.00051
NM_001110219.3(GJB6):c.-295-99A>C rs886050035 0.00050
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_004415.4(DSP):c.8019C>T (p.Asp2673=) rs144275591 0.00047
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_004782.4(SNAP29):c.*3014C>T rs767162203 0.00045
NM_000226.4(KRT9):c.-31G>A rs376504688 0.00043
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) rs77688767 0.00043
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_020751.3(COG6):c.*1532T>G rs61954232 0.00042
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_024009.3(GJB3):c.*306C>T rs1015503523 0.00041
NM_025216.3(WNT10A):c.*108G>A rs190527122 0.00040
NM_000226.4(KRT9):c.1096A>G (p.Ser366Gly) rs114395985 0.00038
NM_001942.4(DSG1):c.3133G>A (p.Val1045Met) rs140838956 0.00038
NM_000226.4(KRT9):c.*40+2del rs777438204 0.00037
NM_000226.4(KRT9):c.*309del rs886052909 0.00036
NM_004782.4(SNAP29):c.*1589T>C rs530035476 0.00036
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys) rs113967308 0.00034
NM_004782.4(SNAP29):c.*2678T>C rs537067283 0.00034
NM_004782.4(SNAP29):c.*2749A>G rs1333759236 0.00034
NM_001814.6(CTSC):c.-48G>A rs200415443 0.00033
NM_004782.4(SNAP29):c.*3233A>G rs191082970 0.00033
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) rs200172266 0.00032
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) rs778513540 0.00032
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_024009.2(GJB3):c.-606T>C rs538085084 0.00031
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156 0.00030
NM_004004.6(GJB2):c.*423C>T rs112457424 0.00029
NM_004004.6(GJB2):c.*598C>A rs550600399 0.00029
NM_004782.4(SNAP29):c.*2052A>T rs74557072 0.00029
NM_004782.4(SNAP29):c.*822C>T rs769097170 0.00029
NM_025216.2(WNT10A):c.-341A>G rs762914440 0.00029
NM_025216.3(WNT10A):c.756+14C>T rs200733269 0.00029
NM_001814.5(CTSC):c.-80G>C rs758293258 0.00028
NM_017636.4(TRPM4):c.127G>A (p.Ala43Thr) rs112149155 0.00028
NM_025216.3(WNT10A):c.668G>A (p.Arg223His) rs143424659 0.00028
NM_001110219.3(GJB6):c.-106G>T rs555718664 0.00027
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_001110219.3(GJB6):c.*25C>T rs112845420 0.00025
NM_004415.4(DSP):c.-157G>A rs886061742 0.00025
NM_004782.4(SNAP29):c.*1675C>T rs944104520 0.00024
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650 0.00022
NM_004782.4(SNAP29):c.*2039T>G rs746231023 0.00022
NM_025216.2(WNT10A):c.-149G>T rs886055641 0.00022
NM_001110219.3(GJB6):c.*192C>T rs761029974 0.00021
NM_001942.4(DSG1):c.1690G>A (p.Val564Ile) rs146919961 0.00021
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_000226.4(KRT9):c.697C>T (p.Arg233Cys) rs144301874 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_004782.4(SNAP29):c.*6G>A rs370326257 0.00019
NM_017636.4(TRPM4):c.1409A>G (p.Asn470Ser) rs746075675 0.00019
NM_017636.4(TRPM4):c.2774A>C (p.Lys925Thr) rs752778561 0.00019
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) rs368280129 0.00019
NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile) rs184583316 0.00017
NM_004782.4(SNAP29):c.*2912G>A rs886057276 0.00017
NM_001814.6(CTSC):c.259A>G (p.Ile87Val) rs45447392 0.00016
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) rs142378484 0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 0.00016
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser) rs369682599 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_020427.3(SLURP1):c.179-3C>T rs371317832 0.00016
NM_024009.3(GJB3):c.*80G>C rs779242382 0.00016
NM_024009.3(GJB3):c.-399G>A rs141275770 0.00016
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=) rs531326479 0.00016
NM_025216.3(WNT10A):c.216G>T (p.Met72Ile) rs373607885 0.00016
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_017636.4(TRPM4):c.857C>T (p.Thr286Met) rs775793134 0.00015
NM_033004.4(NLRP1):c.439C>T (p.Arg147Cys) rs147371989 0.00015
NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly) rs143962007 0.00014
NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys) rs146182103 0.00014
NM_004415.4(DSP):c.1534A>G (p.Ile512Val) rs202025438 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763 0.00014
NM_017636.4(TRPM4):c.754C>T (p.Arg252Cys) rs771728837 0.00014
NM_024009.3(GJB3):c.79G>A (p.Val27Met) rs775072109 0.00014
NM_004415.4(DSP):c.*577G>A rs886061755 0.00013
NM_004415.4(DSP):c.1575-15C>G rs369184165 0.00013
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) rs111368396 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_004782.4(SNAP29):c.*3107C>T rs886057279 0.00013
NM_004782.4(SNAP29):c.*3193G>A rs553460221 0.00013
NM_004782.4(SNAP29):c.*991C>A rs868124207 0.00013
NM_020427.3(SLURP1):c.202G>A (p.Val68Met) rs145660272 0.00013
NM_024009.3(GJB3):c.-159T>C rs987840683 0.00013
NM_000226.4(KRT9):c.*263T>C rs954998850 0.00012
NM_004004.6(GJB2):c.*114T>C rs182085649 0.00012
NM_004415.4(DSP):c.*289C>T rs886061749 0.00012
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00012
NM_004415.4(DSP):c.7125G>A (p.Gly2375=) rs141709096 0.00012
NM_020751.3(COG6):c.155A>G (p.Glu52Gly) rs201308360 0.00012
NM_004004.6(GJB2):c.*800A>G rs886050027 0.00011
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_017636.4(TRPM4):c.1139C>T (p.Ala380Val) rs150894548 0.00011
NM_017636.4(TRPM4):c.338G>A (p.Arg113His) rs149335121 0.00011
NM_020751.3(COG6):c.1021A>T (p.Asn341Tyr) rs201922229 0.00011
NM_020751.3(COG6):c.730G>A (p.Val244Ile) rs147560202 0.00011
NM_024009.3(GJB3):c.-177G>A rs1057515477 0.00011
NM_025216.3(WNT10A):c.149C>T (p.Pro50Leu) rs199980023 0.00011
NM_025216.3(WNT10A):c.347T>C (p.Ile116Thr) rs762311530 0.00011
NM_025216.3(WNT10A):c.427C>T (p.His143Tyr) rs202024965 0.00011
NM_000226.4(KRT9):c.1519G>C (p.Gly507Arg) rs144649847 0.00010
NM_000226.4(KRT9):c.1520G>T (p.Gly507Val) rs149321431 0.00010
NM_000226.4(KRT9):c.286G>A (p.Gly96Ser) rs145530082 0.00010
NM_001814.6(CTSC):c.29C>T (p.Ala10Val) rs765499436 0.00010
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) rs751361395 0.00010
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_017636.4(TRPM4):c.1324C>T (p.Arg442Cys) rs148867331 0.00010
NM_017636.4(TRPM4):c.2953+5G>C rs200998908 0.00010
NM_020751.3(COG6):c.1891G>A (p.Val631Met) rs143909067 0.00010
NM_025216.2(WNT10A):c.-270G>C rs774035749 0.00010
NM_025216.3(WNT10A):c.444G>A (p.Ala148=) rs147145554 0.00010
NM_000226.4(KRT9):c.1594G>A (p.Gly532Ser) rs372549420 0.00009
NM_001110219.3(GJB6):c.-295-192A>G rs886050036 0.00009
NM_001110219.3(GJB6):c.-33G>A rs533982140 0.00009
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) rs141752846 0.00009
NM_001814.6(CTSC):c.-49C>T rs779871521 0.00009
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) rs200627023 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004415.4(DSP):c.*58T>C rs753281894 0.00009
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_017636.4(TRPM4):c.1756G>C (p.Val586Leu) rs369462197 0.00009
NM_020751.3(COG6):c.1760G>A (p.Arg587His) rs191156299 0.00009
NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly) rs201743343 0.00009
NM_033004.4(NLRP1):c.164C>T (p.Ser55Leu) rs201750573 0.00009
NM_000226.4(KRT9):c.-23A>G rs753666153 0.00008
NM_000226.4(KRT9):c.1021A>G (p.Ile341Val) rs201833191 0.00008
NM_000226.4(KRT9):c.250A>G (p.Ser84Gly) rs563000405 0.00008
NM_001110219.3(GJB6):c.672A>G (p.Arg224=) rs756597598 0.00008
NM_004415.4(DSP):c.107G>C (p.Gly36Ala) rs778506459 0.00008
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe) rs1431507005 0.00008
NM_004415.4(DSP):c.5316T>C (p.Asp1772=) rs376186141 0.00008
NM_017636.4(TRPM4):c.2638G>A (p.Gly880Ser) rs762428211 0.00008
NM_020751.3(COG6):c.1415A>G (p.Gln472Arg) rs756742630 0.00008
NM_024009.3(GJB3):c.*670C>A rs1004646950 0.00008
NM_001110219.3(GJB6):c.30C>T (p.Ile10=) rs377181573 0.00007
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu) rs747580402 0.00007
NM_004415.4(DSP):c.3102C>T (p.Ile1034=) rs569974617 0.00007
NM_004415.4(DSP):c.8172G>T (p.Gln2724His) rs372569211 0.00007
NM_004782.4(SNAP29):c.*1061C>T rs557600796 0.00007
NM_017636.4(TRPM4):c.1050G>A (p.Gln350=) rs542569450 0.00007
NM_017636.4(TRPM4):c.2116C>T (p.Arg706Cys) rs199552085 0.00007
NM_017636.4(TRPM4):c.2840C>A (p.Ala947Asp) rs368175948 0.00007
NM_017636.4(TRPM4):c.416G>A (p.Arg139His) rs200360191 0.00007
NM_000226.4(KRT9):c.1336C>T (p.Arg446Trp) rs201551901 0.00006
NM_001110219.3(GJB6):c.-296+210C>A rs886050039 0.00006
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724 0.00006
NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) rs200480676 0.00006
NM_001814.6(CTSC):c.948G>C (p.Leu316=) rs145373075 0.00006
NM_004004.6(GJB2):c.-1G>A rs768338285 0.00006
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys) rs773113261 0.00006
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser) rs2491079 0.00006
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823 0.00006
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val) rs753270443 0.00006
NM_004415.4(DSP):c.4022G>A (p.Arg1341His) rs112242645 0.00006
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877 0.00006
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn) rs138588403 0.00006
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp) rs149827779 0.00006
NM_017636.4(TRPM4):c.1817C>G (p.Ala606Gly) rs771088249 0.00006
NM_017636.4(TRPM4):c.2732C>T (p.Thr911Met) rs148006852 0.00006
NM_020427.3(SLURP1):c.141C>T (p.Asp47=) rs757855735 0.00006
NM_024009.3(GJB3):c.*191C>T rs541330173 0.00006
NM_024009.3(GJB3):c.*75del rs1057515478 0.00006
NM_001110219.3(GJB6):c.-149G>A rs886050032 0.00005
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_004415.4(DSP):c.*62A>T rs182788116 0.00005
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963 0.00005
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) rs749820299 0.00005
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln) rs751849031 0.00005
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln) rs367759510 0.00005
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu) rs374262024 0.00005
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu) rs764232504 0.00005
NM_004782.4(SNAP29):c.*624C>T rs372543595 0.00005
NM_004782.4(SNAP29):c.580C>T (p.His194Tyr) rs766339332 0.00005
NM_017636.4(TRPM4):c.1495C>T (p.Arg499Trp) rs371377895 0.00005
NM_020751.3(COG6):c.1149T>G (p.Phe383Leu) rs886050227 0.00005
NM_025216.3(WNT10A):c.205C>T (p.Arg69Trp) rs200487809 0.00005
NM_025216.3(WNT10A):c.551G>A (p.Arg184His) rs372756514 0.00005
NM_000226.4(KRT9):c.*123T>C rs1444464733 0.00004
NM_000226.4(KRT9):c.1069T>C (p.Ser357Pro) rs146440373 0.00004
NM_000226.4(KRT9):c.1126G>A (p.Gly376Ser) rs200211641 0.00004
NM_000226.4(KRT9):c.1797C>T (p.Ser599=) rs754967566 0.00004
NM_000226.4(KRT9):c.1839C>T (p.Tyr613=) rs142173628 0.00004
NM_000226.4(KRT9):c.291T>C (p.Phe97=) rs376830738 0.00004
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) rs727505123 0.00004
NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln) rs771412904 0.00004
NM_001814.6(CTSC):c.*381A>G rs939550734 0.00004
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) rs575727793 0.00004
NM_004004.6(GJB2):c.*1040A>G rs1370756376 0.00004
NM_004004.6(GJB2):c.*236A>T rs922232025 0.00004
NM_004004.6(GJB2):c.*308G>A rs886090162 0.00004
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633 0.00004
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_004415.4(DSP):c.1418A>G (p.Gln473Arg) rs746802503 0.00004
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091 0.00004
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys) rs778350289 0.00004
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 0.00004
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn) rs765645957 0.00004
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg) rs746482538 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln) rs748109826 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) rs768577891 0.00004
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) rs780224658 0.00004
NM_004415.4(DSP):c.5795G>A (p.Arg1932His) rs770522444 0.00004
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His) rs767259019 0.00004
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe) rs549451471 0.00004
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile) rs1478775642 0.00004
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) rs537588390 0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333 0.00004
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu) rs764514210 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004782.4(SNAP29):c.*210A>C rs1015563368 0.00004
NM_004782.4(SNAP29):c.*2280G>A rs543535379 0.00004
NM_004782.4(SNAP29):c.*2364A>G rs1342371584 0.00004
NM_004782.4(SNAP29):c.*3156G>A rs1243774895 0.00004
NM_006121.4(KRT1):c.*372G>A rs886049633 0.00004
NM_017636.4(TRPM4):c.1150+1G>A rs200132598 0.00004
NM_017636.4(TRPM4):c.1308C>A (p.Asp436Glu) rs200262546 0.00004
NM_017636.4(TRPM4):c.3184C>G (p.Arg1062Gly) rs375523320 0.00004
NM_020427.3(SLURP1):c.*10G>A rs201974695 0.00004
NM_020427.3(SLURP1):c.10C>T (p.Arg4Cys) rs267601807 0.00004
NM_020751.3(COG6):c.1738G>A (p.Ala580Thr) rs773262760 0.00004
NM_020751.3(COG6):c.556C>A (p.Leu186Met) rs781524524 0.00004
NM_024009.3(GJB3):c.-307T>C rs764352147 0.00004
NM_024009.3(GJB3):c.-477T>C rs1047993530 0.00004
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531 0.00004
NM_025216.3(WNT10A):c.1134C>T (p.Gly378=) rs886055644 0.00004
NM_025216.3(WNT10A):c.349C>T (p.Pro117Ser) rs144212422 0.00004
NM_025216.3(WNT10A):c.437C>G (p.Ser146Cys) rs759718991 0.00004
NM_025216.3(WNT10A):c.498C>T (p.Asp166=) rs143463683 0.00004
NM_033004.4(NLRP1):c.3338C>T (p.Thr1113Met) rs761505501 0.00004
NM_000226.4(KRT9):c.-50C>T rs768450433 0.00003
NM_000226.4(KRT9):c.347G>A (p.Gly116Asp) rs746202552 0.00003
NM_001110219.3(GJB6):c.-122T>C rs886050031 0.00003
NM_001110219.3(GJB6):c.228del (p.Trp77fs) rs751484173 0.00003
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly) rs201839979 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004415.4(DSP):c.*358A>T rs886061752 0.00003
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr) rs141163578 0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala) rs755492444 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly) rs557966264 0.00003
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu) rs779253041 0.00003
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys) rs563387839 0.00003
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln) rs147909031 0.00003
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg) rs747326519 0.00003
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096 0.00003
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln) rs370063434 0.00003
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) rs794728122 0.00003
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) rs140663822 0.00003
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly) rs374090050 0.00003
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala) rs886061748 0.00003
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val) rs774087560 0.00003
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp) rs771553674 0.00003
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987 0.00003
NM_004415.4(DSP):c.997A>G (p.Ser333Gly) rs773685575 0.00003
NM_004782.4(SNAP29):c.*496C>G rs1389874859 0.00003
NM_004782.4(SNAP29):c.607G>A (p.Asp203Asn) rs752535047 0.00003
NM_004782.4(SNAP29):c.643C>T (p.Arg215Cys) rs371123997 0.00003
NM_006121.4(KRT1):c.257G>A (p.Arg86His) rs886049637 0.00003
NM_017636.4(TRPM4):c.2778+1G>A rs756554490 0.00003
NM_017636.4(TRPM4):c.3563G>T (p.Trp1188Leu) rs1064796865 0.00003
NM_020427.3(SLURP1):c.125G>A (p.Arg42His) rs142285553 0.00003
NM_020427.3(SLURP1):c.158C>T (p.Thr53Met) rs752253252 0.00003
NM_020751.3(COG6):c.1961C>T (p.Thr654Met) rs747232819 0.00003
NM_024009.3(GJB3):c.-231G>A rs1057515551 0.00003
NM_025216.3(WNT10A):c.*115C>T rs886055646 0.00003
NM_025216.3(WNT10A):c.914G>A (p.Arg305His) rs746769946 0.00003
NM_000226.4(KRT9):c.121G>A (p.Gly41Ser) rs201530335 0.00002
NM_000226.4(KRT9):c.1394T>G (p.Phe465Cys) rs753893753 0.00002
NM_000226.4(KRT9):c.1549G>A (p.Gly517Arg) rs201495509 0.00002
NM_001110219.3(GJB6):c.109G>A (p.Val37Met) rs761985641 0.00002
NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg) rs760079142 0.00002
NM_001110219.3(GJB6):c.619G>A (p.Val207Met) rs146231737 0.00002
NM_001110219.3(GJB6):c.666A>G (p.Ser222=) rs138571061 0.00002
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) rs748729285 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr) rs757208743 0.00002
NM_004415.4(DSP):c.104G>C (p.Gly35Ala) rs202194206 0.00002
NM_004415.4(DSP):c.1149A>G (p.Glu383=) rs572980966 0.00002
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu) rs761051181 0.00002
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp) rs372467697 0.00002
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.3147G>A (p.Ser1049=) rs756341143 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665 0.00002
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser) rs771721410 0.00002
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala) rs760433367 0.00002
NM_004415.4(DSP):c.449G>A (p.Arg150Gln) rs587782940 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe) rs1581822548 0.00002
NM_004415.4(DSP):c.740C>T (p.Ala247Val) rs544360130 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly) rs397516972 0.00002
NM_004782.4(SNAP29):c.*2712G>A rs1158159445 0.00002
NM_004782.4(SNAP29):c.*3268T>C rs1055312902 0.00002
NM_004782.4(SNAP29):c.*3284G>T rs948903807 0.00002
NM_004782.4(SNAP29):c.*507A>C rs1929072766 0.00002
NM_017636.4(TRPM4):c.1050+1G>A rs775091137 0.00002
NM_017636.4(TRPM4):c.1466C>T (p.Pro489Leu) rs766004189 0.00002
NM_017636.4(TRPM4):c.1885G>A (p.Glu629Lys) rs762104169 0.00002
NM_017636.4(TRPM4):c.2420C>T (p.Pro807Leu) rs142257045 0.00002
NM_017636.4(TRPM4):c.2733G>A (p.Thr911=) rs756464554 0.00002
NM_017636.4(TRPM4):c.2912A>G (p.Tyr971Cys) rs199577978 0.00002
NM_017636.4(TRPM4):c.2992G>A (p.Gly998Ser) rs144702920 0.00002
NM_017636.4(TRPM4):c.3043T>G (p.Tyr1015Asp) rs757067985 0.00002
NM_017636.4(TRPM4):c.749G>A (p.Arg250His) rs778711356 0.00002
NM_017636.4(TRPM4):c.865G>A (p.Glu289Lys) rs770369257 0.00002
NM_017636.4(TRPM4):c.935C>T (p.Ala312Val) rs138095759 0.00002
NM_020427.3(SLURP1):c.*146G>A rs587600192 0.00002
NM_020751.3(COG6):c.119A>G (p.His40Arg) rs148246113 0.00002
NM_020751.3(COG6):c.134C>T (p.Thr45Met) rs545371712 0.00002
NM_020751.3(COG6):c.1484C>G (p.Ala495Gly) rs746119230 0.00002
NM_020751.3(COG6):c.1892dup (p.Met632fs) rs1486717174 0.00002
NM_025216.2(WNT10A):c.-285C>T rs886055636 0.00002
NM_025216.3(WNT10A):c.*15C>T rs886055645 0.00002
NM_025216.3(WNT10A):c.377-11T>C rs369995297 0.00002
NM_025216.3(WNT10A):c.660C>T (p.Phe220=) rs765046353 0.00002
NM_025216.3(WNT10A):c.694C>T (p.Arg232Trp) rs193098360 0.00002
NM_000226.4(KRT9):c.*103C>G rs886052911 0.00001
NM_000226.4(KRT9):c.*225T>C rs1039328870 0.00001
NM_000226.4(KRT9):c.*230T>C rs886052910 0.00001
NM_000226.4(KRT9):c.*275A>C rs1906858213 0.00001
NM_000226.4(KRT9):c.1119C>T (p.Leu373=) rs537282263 0.00001
NM_000226.4(KRT9):c.1275C>T (p.Asp425=) rs781603266 0.00001
NM_000226.4(KRT9):c.1457G>A (p.Gly486Glu) rs749465914 0.00001
NM_000226.4(KRT9):c.212A>G (p.Tyr71Cys) rs1350886851 0.00001
NM_001110219.3(GJB6):c.*559C>T rs886050029 0.00001
NM_001110219.3(GJB6):c.-26A>G rs886050030 0.00001
NM_001110219.3(GJB6):c.-296+283T>C rs886050037 0.00001
NM_001110219.3(GJB6):c.-3G>A rs372835743 0.00001
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794 0.00001
NM_001110219.3(GJB6):c.393G>A (p.Ser131=) rs200353369 0.00001
NM_001110219.3(GJB6):c.458T>C (p.Val153Ala) rs779119807 0.00001
NM_001110219.3(GJB6):c.458T>G (p.Val153Gly) rs779119807 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg) rs752343828 0.00001
NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln) rs766604251 0.00001
NM_001814.6(CTSC):c.1097A>T (p.His366Leu) rs751798574 0.00001
NM_001814.6(CTSC):c.12G>A (p.Gly4=) rs755959403 0.00001
NM_001814.6(CTSC):c.1A>G (p.Met1Val) rs886048742 0.00001
NM_001814.6(CTSC):c.318+4A>G rs781383788 0.00001
NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys) rs763656343 0.00001
NM_001814.6(CTSC):c.642-15A>G rs748280232 0.00001
NM_001814.6(CTSC):c.81T>G (p.Pro27=) rs1370319468 0.00001
NM_004004.6(GJB2):c.*550A>G rs1959051090 0.00001
NM_004004.6(GJB2):c.*679T>C rs1006432105 0.00001
NM_004004.6(GJB2):c.*979A>G rs546826225 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.174A>G (p.Pro58=) rs778922005 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.512C>T (p.Ala171Val) rs1555341850 0.00001
NM_004004.6(GJB2):c.557C>T (p.Thr186Met) rs753674300 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004415.4(DSP):c.*112A>G rs141059005 0.00001
NM_004415.4(DSP):c.*137T>C rs756543548 0.00001
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser) rs746245682 0.00001
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser) rs1064795084 0.00001
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro) rs763523373 0.00001
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln) rs397516916 0.00001
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu) rs1430756602 0.00001
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn) rs1037212969 0.00001
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) rs781084693 0.00001
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) rs748790273 0.00001
NM_004415.4(DSP):c.1564C>G (p.Leu522Val) rs1230995902 0.00001
NM_004415.4(DSP):c.1730T>C (p.Met577Thr) rs141956992 0.00001
NM_004415.4(DSP):c.1960G>A (p.Val654Ile) rs375629257 0.00001
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys) rs749238502 0.00001
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe) rs1363445022 0.00001
NM_004415.4(DSP):c.2081C>T (p.Ala694Val) rs543446763 0.00001
NM_004415.4(DSP):c.2131-5G>C rs767939332 0.00001
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro) rs935504136 0.00001
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397 0.00001
NM_004415.4(DSP):c.2423G>A (p.Arg808His) rs372906646 0.00001
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158 0.00001
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) rs759869347 0.00001
NM_004415.4(DSP):c.2850T>G (p.Ile950Met) rs727502999 0.00001
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro) rs745641212 0.00001
NM_004415.4(DSP):c.2872A>G (p.Ile958Val) rs377116090 0.00001
NM_004415.4(DSP):c.2878-4G>A rs758303966 0.00001
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile) rs1265482489 0.00001
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr) rs397516929 0.00001
NM_004415.4(DSP):c.2962C>T (p.Pro988Ser) rs774742340 0.00001
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559 0.00001
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser) rs1218975129 0.00001
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp) rs772551736 0.00001
NM_004415.4(DSP):c.308G>A (p.Arg103Gln) rs775015862 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp) rs761331634 0.00001
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys) rs751566392 0.00001
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser) rs777375223 0.00001
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn) rs989348634 0.00001
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr) rs1285435504 0.00001
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456 0.00001
NM_004415.4(DSP):c.38C>T (p.Thr13Ile) rs201133637 0.00001
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn) rs144465638 0.00001
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile) rs530481219 0.00001
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile) rs762930286 0.00001
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271 0.00001
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn) rs750607476 0.00001
NM_004415.4(DSP):c.4671G>A (p.Thr1557=) rs367767551 0.00001
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly) rs1304994640 0.00001
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) rs786205416 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe) rs372452104 0.00001
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg) rs377344768 0.00001
NM_004415.4(DSP):c.5217C>T (p.Ser1739=) rs748263306 0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) rs763355815 0.00001
NM_004415.4(DSP):c.5649G>A (p.Ser1883=) rs760974941 0.00001
NM_004415.4(DSP):c.5752G>A (p.Glu1918Lys) rs1352220803 0.00001
NM_004415.4(DSP):c.5820T>C (p.Asp1940=) rs763026647 0.00001
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn) rs759443302 0.00001
NM_004415.4(DSP):c.6002T>A (p.Val2001Glu) rs926676669 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile) rs374226658 0.00001
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr) rs377035113 0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys) rs372242085 0.00001
NM_004415.4(DSP):c.664C>T (p.Arg222Trp) rs1233981969 0.00001
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu) rs759982048 0.00001
NM_004415.4(DSP):c.677A>G (p.Asn226Ser) rs921332894 0.00001
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363 0.00001
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys) rs765245807 0.00001
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) rs762943687 0.00001
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr) rs777901747 0.00001
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg) rs1346398330 0.00001
NM_004415.4(DSP):c.7551G>A (p.Val2517=) rs754127386 0.00001
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) rs751712837 0.00001
NM_004415.4(DSP):c.7767A>G (p.Ser2589=) rs755928079 0.00001
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser) rs563272509 0.00001
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala) rs1170072296 0.00001
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile) rs772951950 0.00001
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val) rs1301635888 0.00001
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val) rs767630308 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 0.00001
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser) rs1371748682 0.00001
NM_004415.4(DSP):c.8050A>G (p.Met2684Val) rs147801650 0.00001
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp) rs375348086 0.00001
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe) rs367972703 0.00001
NM_004415.4(DSP):c.8217G>A (p.Pro2739=) rs755508926 0.00001
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607 0.00001
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe) rs201271117 0.00001
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) rs139969658 0.00001
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys) rs767961179 0.00001
NM_004415.4(DSP):c.8529T>C (p.Ser2843=) rs780005300 0.00001
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr) rs148550678 0.00001
NM_004415.4(DSP):c.946A>G (p.Met316Val) rs201672777 0.00001
NM_004415.4(DSP):c.976C>T (p.Leu326Phe) rs117961973 0.00001
NM_004415.4(DSP):c.9C>T (p.Cys3=) rs769032973 0.00001
NM_004782.4(SNAP29):c.*1437T>C rs1356926944 0.00001
NM_004782.4(SNAP29):c.*2059C>T rs186489004 0.00001
NM_004782.4(SNAP29):c.*2168A>C rs886057273 0.00001
NM_004782.4(SNAP29):c.*3171G>A rs886057280 0.00001
NM_004782.4(SNAP29):c.*3283T>G rs916175198 0.00001
NM_004782.4(SNAP29):c.*816C>T rs886057271 0.00001
NM_004782.4(SNAP29):c.-40T>G rs886057263 0.00001
NM_004782.4(SNAP29):c.238-12C>T rs373576052 0.00001
NM_004782.4(SNAP29):c.240G>A (p.Glu80=) rs528593119 0.00001
NM_004782.4(SNAP29):c.518C>G (p.Thr173Arg) rs775814400 0.00001
NM_004782.4(SNAP29):c.550A>G (p.Met184Val) rs770234475 0.00001
NM_004782.4(SNAP29):c.620-6C>G rs1397535065 0.00001
NM_004782.4(SNAP29):c.6A>G (p.Ser2=) rs770386845 0.00001
NM_006121.4(KRT1):c.*72G>T rs1486027458 0.00001
NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser) rs371843007 0.00001
NM_006121.4(KRT1):c.477G>C (p.Gln159His) rs886049635 0.00001
NM_006121.4(KRT1):c.729C>T (p.Asp243=) rs201069649 0.00001
NM_017636.4(TRPM4):c.*316G>A rs990395031 0.00001
NM_017636.4(TRPM4):c.11C>G (p.Pro4Arg) rs1318656879 0.00001
NM_017636.4(TRPM4):c.1263+2T>G rs1005829535 0.00001
NM_017636.4(TRPM4):c.2330G>A (p.Gly777Asp) rs771427749 0.00001
NM_017636.4(TRPM4):c.24G>A (p.Gln8=) rs2041543043 0.00001
NM_017636.4(TRPM4):c.2564G>T (p.Arg855Leu) rs1288174566 0.00001
NM_017636.4(TRPM4):c.2738A>G (p.Asn913Ser) rs749667228 0.00001
NM_017636.4(TRPM4):c.2904C>G (p.Tyr968Ter) rs1179368021 0.00001
NM_017636.4(TRPM4):c.2981C>T (p.Ser994Leu) rs575737661 0.00001
NM_017636.4(TRPM4):c.3062T>A (p.Val1021Glu) rs779059936 0.00001
NM_017636.4(TRPM4):c.3130A>T (p.Ser1044Cys) rs780227965 0.00001
NM_017636.4(TRPM4):c.3449G>T (p.Arg1150Leu) rs1273337644 0.00001
NM_017636.4(TRPM4):c.434C>T (p.Ala145Val) rs767015629 0.00001
NM_017636.4(TRPM4):c.634C>T (p.Arg212Trp) rs759593186 0.00001
NM_017636.4(TRPM4):c.635G>A (p.Arg212Gln) rs183306159 0.00001
NM_017636.4(TRPM4):c.650C>T (p.Pro217Leu) rs750644014 0.00001
NM_017636.4(TRPM4):c.712G>A (p.Gly238Ser) rs923280649 0.00001
NM_017636.4(TRPM4):c.735C>T (p.Gly245=) rs555320255 0.00001
NM_017636.4(TRPM4):c.858G>A (p.Thr286=) rs760622386 0.00001
NM_017636.4(TRPM4):c.994C>T (p.Arg332Ter) rs753753488 0.00001
NM_020427.3(SLURP1):c.167C>T (p.Thr56Met) rs587771241 0.00001
NM_020427.3(SLURP1):c.47G>T (p.Ser16Ile) rs775418598 0.00001
NM_020751.3(COG6):c.1009+6T>C rs752382409 0.00001
NM_020751.3(COG6):c.1247A>G (p.Asn416Ser) rs756614480 0.00001
NM_020751.3(COG6):c.697G>A (p.Glu233Lys) rs745501973 0.00001
NM_020751.3(COG6):c.868C>T (p.Pro290Ser) rs748959066 0.00001
NM_020751.3(COG6):c.920A>G (p.Tyr307Cys) rs754624882 0.00001
NM_020882.4(COL20A1):c.392C>G (p.Ser131Cys) rs778936614 0.00001
NM_024009.3(GJB3):c.*370C>A rs1173323239 0.00001
NM_024009.3(GJB3):c.-150C>T rs910647846 0.00001
NM_024009.3(GJB3):c.126C>T (p.Arg42=) rs776320459 0.00001
NM_024009.3(GJB3):c.249C>T (p.Phe83=) rs1640079217 0.00001
NM_024009.3(GJB3):c.347T>G (p.Leu116Arg) rs144085767 0.00001
NM_025216.2(WNT10A):c.-153G>A rs886055640 0.00001
NM_025216.3(WNT10A):c.*238C>T rs1176499706 0.00001
NM_025216.3(WNT10A):c.-70G>C rs1042922024 0.00001
NM_025216.3(WNT10A):c.1061C>T (p.Ser354Leu) rs781178898 0.00001
NM_025216.3(WNT10A):c.1162C>T (p.Arg388Cys) rs1186983054 0.00001
NM_025216.3(WNT10A):c.212A>T (p.Gln71Leu) rs368943130 0.00001
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) rs318240759 0.00001
NM_025216.3(WNT10A):c.403G>A (p.Ala135Thr) rs1402990329 0.00001
NM_025216.3(WNT10A):c.443C>T (p.Ala148Val) rs373695499 0.00001
NM_025216.3(WNT10A):c.519G>T (p.Lys173Asn) rs758023820 0.00001
NM_025216.3(WNT10A):c.526C>T (p.Arg176Cys) rs754010310 0.00001
NM_025216.3(WNT10A):c.652A>G (p.Met218Val) rs373991357 0.00001
NM_025216.3(WNT10A):c.670T>C (p.Phe224Leu) rs749857233 0.00001
NM_025216.3(WNT10A):c.695G>A (p.Arg232Gln) rs772154760 0.00001
NM_025216.3(WNT10A):c.697G>A (p.Glu233Lys) rs121908118 0.00001
NM_025216.3(WNT10A):c.756G>A (p.Gln252=) rs768536054 0.00001
NM_025216.3(WNT10A):c.7A>T (p.Ser3Cys) rs1324234734 0.00001
NM_025216.3(WNT10A):c.831G>T (p.Trp277Cys) rs1234227647 0.00001
NM_025216.3(WNT10A):c.838A>T (p.Thr280Ser) rs886055643 0.00001
NM_025216.3(WNT10A):c.910A>C (p.Asn304His) rs1434390821 0.00001
NM_025216.3(WNT10A):c.959C>G (p.Pro320Arg) rs974508350 0.00001
NC_000011.10:g.(?_88293986)_(88337727_?)dup
NC_000011.9:g.(?_88027174)_(88029452_?)dup
NC_000011.9:g.(?_88027174)_(89018142_?)dup
NC_000013.10:g.(?_20716100)_(21398980_?)dup
NC_000013.10:g.(?_20763040)_(20797619_?)dup
NC_000013.10:g.(?_20796834)_(21099933_?)del
NM_000165.5(GJA1):c.305A>T (p.Lys102Met)
NM_000165.5(GJA1):c.932del (p.Ala311fs) rs778110855
NM_000226.4(KRT9):c.*41-8C>T rs765440137
NM_000226.4(KRT9):c.*93C>T rs1906863910
NM_000226.4(KRT9):c.1011C>T (p.Asn337=) rs143100726
NM_000226.4(KRT9):c.1045-9G>T rs144984735
NM_000226.4(KRT9):c.1049C>T (p.Thr350Ile) rs1240669066
NM_000226.4(KRT9):c.1127G>A (p.Gly376Asp) rs777254346
NM_000226.4(KRT9):c.1282C>T (p.Gln428Ter)
NM_000226.4(KRT9):c.1315C>T (p.Leu439Phe) rs761629042
NM_000226.4(KRT9):c.1363C>T (p.His455Tyr) rs572344925
NM_000226.4(KRT9):c.1405G>A (p.Gly469Arg) rs201817471
NM_000226.4(KRT9):c.1795A>C (p.Ser599Arg)
NM_000226.4(KRT9):c.1869C>T (p.Ser623=) rs749243428
NM_000226.4(KRT9):c.380A>G (p.Tyr127Cys) rs1907085178
NM_000226.4(KRT9):c.470T>C (p.Met157Thr) rs59510579
NM_000226.4(KRT9):c.532AAC[1] (p.Asn179del) rs1907073179
NM_000226.4(KRT9):c.578G>A (p.Gly193Glu) rs142413684
NM_000226.4(KRT9):c.644T>C (p.Ile215Thr) rs886052912
NM_000427.3(LORICRIN):c.112GGC[5] (p.Gly41dup) rs770195151
NM_000427.3(LORICRIN):c.736G>C (p.Gly246Arg)
NM_001110219.3(GJB6):c.*628G>T rs577545882
NM_001110219.3(GJB6):c.-166A>C rs886050033
NM_001110219.3(GJB6):c.-178C>T rs886050034
NM_001110219.3(GJB6):c.-296+265C>T rs886050038
NM_001110219.3(GJB6):c.154G>T (p.Val52Phe)
NM_001110219.3(GJB6):c.176G>T (p.Gly59Val)
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp) rs2137333664
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) rs571454176
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) rs571454176
NM_001110219.3(GJB6):c.310C>T (p.Arg104Cys)
NM_001110219.3(GJB6):c.311G>A (p.Arg104His) rs549918398
NM_001110219.3(GJB6):c.320G>A (p.Arg107Lys)
NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) rs747722057
NM_001110219.3(GJB6):c.338A>G (p.Asn113Ser)
NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) rs1869317427
NM_001110219.3(GJB6):c.380G>A (p.Arg127Gln)
NM_001110219.3(GJB6):c.427C>T (p.Arg143Ter)
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) rs201783640
NM_001110219.3(GJB6):c.460T>A (p.Phe154Ile)
NM_001110219.3(GJB6):c.590C>A (p.Ser197Tyr)
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) rs200881320
NM_001110219.3(GJB6):c.607A>C (p.Met203Leu)
NM_001110219.3(GJB6):c.617A>C (p.Asn206Thr)
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110219.3(GJB6):c.695C>A (p.Pro232His) rs752253778
NM_001110219.3(GJB6):c.742A>G (p.Ile248Val) rs747371119
NM_001110219.3(GJB6):c.94C>T (p.Arg32Ter)
NM_001127.4(AP1B1):c.528G>A (p.Val176=)
NM_001242908.2(RSPO1):c.115G>A (p.Ala39Thr) rs201499112
NM_001814.6(CTSC):c.*350A>G rs1944265493
NM_001814.6(CTSC):c.*414A>G rs953848453
NM_001814.6(CTSC):c.-23C>G rs886048743
NM_001814.6(CTSC):c.-55C>T
NM_001814.6(CTSC):c.-7C>A rs770352776
NM_001814.6(CTSC):c.1006G>A (p.Asp336Asn)
NM_001814.6(CTSC):c.1007A>C (p.Asp336Ala)
NM_001814.6(CTSC):c.1010G>A (p.Cys337Tyr)
NM_001814.6(CTSC):c.1024T>G (p.Ser342Ala)
NM_001814.6(CTSC):c.1033T>C (p.Tyr345His)
NM_001814.6(CTSC):c.1038C>T (p.His346=) rs1355697311
NM_001814.6(CTSC):c.1055A>G (p.Tyr352Cys)
NM_001814.6(CTSC):c.1067A>G (p.Asn356Ser)
NM_001814.6(CTSC):c.1082A>C (p.Lys361Thr)
NM_001814.6(CTSC):c.1084C>G (p.Leu362Val)
NM_001814.6(CTSC):c.1094T>C (p.Val365Ala) rs1197515579
NM_001814.6(CTSC):c.1121T>C (p.Phe374Ser)
NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys) rs886048738
NM_001814.6(CTSC):c.1145A>G (p.His382Arg)
NM_001814.6(CTSC):c.1159A>T (p.Ile387Phe)
NM_001814.6(CTSC):c.1160T>C (p.Ile387Thr)
NM_001814.6(CTSC):c.1165C>T (p.His389Tyr)
NM_001814.6(CTSC):c.1169A>G (p.His390Arg)
NM_001814.6(CTSC):c.1193A>G (p.Asn398Ser)
NM_001814.6(CTSC):c.1194C>A (p.Asn398Lys)
NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys) rs201519830
NM_001814.6(CTSC):c.1222C>A (p.Leu408Met)
NM_001814.6(CTSC):c.1225C>G (p.Leu409Val)
NM_001814.6(CTSC):c.1276_1288A[5]CAGCTGGGCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAACCGCTGGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACAGCTGGG[1] (p.Trp429_Gly430insAlaAlaValArgProGlyArgGlnSerGluThrProSerGlnLysLysLysLysLysLysLysLysLysAsnArgTrpGlyXaaXaaXaaXaaLysLysLysLysLysLysLysAsnSerTrp)
NM_001814.6(CTSC):c.127G>T (p.Val43Leu)
NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp)
NM_001814.6(CTSC):c.1294G>A (p.Gly432Ser)
NM_001814.6(CTSC):c.1303G>A (p.Glu435Lys)
NM_001814.6(CTSC):c.1317C>G (p.Phe439Leu)
NM_001814.6(CTSC):c.1318C>T (p.Arg440Trp)
NM_001814.6(CTSC):c.1319G>A (p.Arg440Gln)
NM_001814.6(CTSC):c.1325G>A (p.Arg442His)
NM_001814.6(CTSC):c.1335TGA[1] (p.Asp446del)
NM_001814.6(CTSC):c.1344_1345del (p.Ala449fs) rs771873680
NM_001814.6(CTSC):c.1345G>A (p.Ala449Thr)
NM_001814.6(CTSC):c.1346C>T (p.Ala449Val)
NM_001814.6(CTSC):c.1349T>C (p.Ile450Thr)
NM_001814.6(CTSC):c.134C>T (p.Ser45Phe)
NM_001814.6(CTSC):c.1351G>C (p.Glu451Gln)
NM_001814.6(CTSC):c.140G>T (p.Gly47Val)
NM_001814.6(CTSC):c.16T>G (p.Ser6Ala)
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001814.6(CTSC):c.173-6del rs372892181
NM_001814.6(CTSC):c.175C>A (p.Pro59Thr)
NM_001814.6(CTSC):c.176C>T (p.Pro59Leu)
NM_001814.6(CTSC):c.21G>C (p.Leu7Phe)
NM_001814.6(CTSC):c.21G>T (p.Leu7Phe)
NM_001814.6(CTSC):c.233T>G (p.Leu78Arg)
NM_001814.6(CTSC):c.239A>G (p.Asn80Ser)
NM_001814.6(CTSC):c.252C>G (p.Phe84Leu)
NM_001814.6(CTSC):c.271G>C (p.Gly91Arg)
NM_001814.6(CTSC):c.290A>G (p.Asn97Ser)
NM_001814.6(CTSC):c.295T>C (p.Tyr99His)
NM_001814.6(CTSC):c.296A>T (p.Tyr99Phe)
NM_001814.6(CTSC):c.299A>G (p.Lys100Arg)
NM_001814.6(CTSC):c.308C>T (p.Ala103Val)
NM_001814.6(CTSC):c.312T>A (p.Phe104Leu)
NM_001814.6(CTSC):c.318+4_318+7del
NM_001814.6(CTSC):c.338A>G (p.Lys113Arg)
NM_001814.6(CTSC):c.340G>C (p.Val114Leu)
NM_001814.6(CTSC):c.344C>T (p.Thr115Ile)
NM_001814.6(CTSC):c.353G>A (p.Cys118Tyr)
NM_001814.6(CTSC):c.353G>T (p.Cys118Phe)
NM_001814.6(CTSC):c.358G>A (p.Glu120Lys)
NM_001814.6(CTSC):c.364A>G (p.Met122Val)
NM_001814.6(CTSC):c.37C>A (p.Leu13Met)
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
NM_001814.6(CTSC):c.386T>A (p.Val129Glu) rs760130711
NM_001814.6(CTSC):c.427G>C (p.Gly143Arg)
NM_001814.6(CTSC):c.434C>G (p.Ala145Gly)
NM_001814.6(CTSC):c.43C>T (p.Leu15Phe)
NM_001814.6(CTSC):c.449A>G (p.Tyr150Cys)
NM_001814.6(CTSC):c.4G>C (p.Gly2Arg)
NM_001814.6(CTSC):c.505A>G (p.Lys169Glu)
NM_001814.6(CTSC):c.53G>A (p.Gly18Asp)
NM_001814.6(CTSC):c.550T>C (p.Ser184Pro)
NM_001814.6(CTSC):c.562A>G (p.Thr188Ala)
NM_001814.6(CTSC):c.566C>T (p.Thr189Ile)
NM_001814.6(CTSC):c.574G>C (p.Glu192Gln)
NM_001814.6(CTSC):c.593T>A (p.Leu198Gln)
NM_001814.6(CTSC):c.615T>G (p.Ser205Arg)
NM_001814.6(CTSC):c.625A>C (p.Ser209Arg)
NM_001814.6(CTSC):c.629G>A (p.Arg210Gln)
NM_001814.6(CTSC):c.641+3A>G
NM_001814.6(CTSC):c.662CTG[1] (p.Ala222del)
NM_001814.6(CTSC):c.693G>C (p.Leu231Phe)
NM_001814.6(CTSC):c.719T>G (p.Val240Gly)
NM_001814.6(CTSC):c.71G>A (p.Cys24Tyr)
NM_001814.6(CTSC):c.729C>T (p.Ile243=) rs766063253
NM_001814.6(CTSC):c.757+3A>G
NM_001814.6(CTSC):c.757+5A>G
NM_001814.6(CTSC):c.757+6A>T rs886048741
NM_001814.6(CTSC):c.757G>A (p.Ala253Thr)
NM_001814.6(CTSC):c.758-16T>G
NM_001814.6(CTSC):c.758-7T>A
NM_001814.6(CTSC):c.769A>G (p.Ser257Gly)
NM_001814.6(CTSC):c.790A>C (p.Met264Leu)
NM_001814.6(CTSC):c.790A>G (p.Met264Val)
NM_001814.6(CTSC):c.796A>G (p.Met266Val)
NM_001814.6(CTSC):c.806C>T (p.Ala269Val)
NM_001814.6(CTSC):c.830A>G (p.Asn277Ser)
NM_001814.6(CTSC):c.839C>T (p.Thr280Ile)
NM_001814.6(CTSC):c.844A>G (p.Ile282Val)
NM_001814.6(CTSC):c.848T>C (p.Leu283Pro)
NM_001814.6(CTSC):c.850A>G (p.Ser284Gly) rs886048740
NM_001814.6(CTSC):c.872G>C (p.Cys291Ser)
NM_001814.6(CTSC):c.881A>G (p.Tyr294Cys)
NM_001814.6(CTSC):c.890G>T (p.Gly297Val)
NM_001814.6(CTSC):c.893G>A (p.Cys298Tyr)
NM_001814.6(CTSC):c.899G>A (p.Gly300Asp)
NM_001814.6(CTSC):c.907C>T (p.Pro303Ser)
NM_001814.6(CTSC):c.908C>T (p.Pro303Leu)
NM_001814.6(CTSC):c.917T>C (p.Ile306Thr)
NM_001814.6(CTSC):c.919G>A (p.Ala307Thr)
NM_001814.6(CTSC):c.921A>G (p.Ala307=)
NM_001814.6(CTSC):c.923G>A (p.Gly308Glu)
NM_001814.6(CTSC):c.931G>A (p.Ala311Thr)
NM_001814.6(CTSC):c.946C>G (p.Leu316Val)
NM_001814.6(CTSC):c.94T>C (p.Tyr32His)
NM_001814.6(CTSC):c.950T>G (p.Val317Gly)
NM_001814.6(CTSC):c.952G>A (p.Glu318Lys)
NM_001814.6(CTSC):c.953A>G (p.Glu318Gly)
NM_001814.6(CTSC):c.954A>G (p.Glu318=) rs886048739
NM_001814.6(CTSC):c.95A>G (p.Tyr32Cys)
NM_001814.6(CTSC):c.979A>C (p.Thr327Pro)
NM_001814.6(CTSC):c.998T>C (p.Met333Thr)
NM_001942.4(DSG1):c.1684G>A (p.Gly562Arg) rs2071779127
NM_001942.4(DSG1):c.2772_2775del (p.Glu924_Arg925insTer) rs2144128095
NM_001942.4(DSG1):c.3062A>G (p.His1021Arg)
NM_001942.4(DSG1):c.788A>G (p.Asn263Ser)
NM_003784.4(SERPINB7):c.716T>C (p.Val239Ala)
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*385G>C rs1959052059
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*52C>T rs1959054328
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.-170C>G rs1006263046
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004415.3(DSP):c.-260A>G rs886061738
NM_004415.4(DSP):c.*203A>G rs1198624922
NM_004415.4(DSP):c.*300C>A rs886061750
NM_004415.4(DSP):c.*305C>A rs886061751
NM_004415.4(DSP):c.*325A>G rs1759669252
NM_004415.4(DSP):c.*384C>A rs886061753
NM_004415.4(DSP):c.*386G>T rs886061754
NM_004415.4(DSP):c.*43T>A rs373414877
NM_004415.4(DSP):c.*598G>T rs886061756
NM_004415.4(DSP):c.*681C>A rs886061757
NM_004415.4(DSP):c.*762G>T rs1759684939
NM_004415.4(DSP):c.-104G>A rs1757981061
NM_004415.4(DSP):c.-179T>C rs886061741
NM_004415.4(DSP):c.-190G>T rs886061740
NM_004415.4(DSP):c.-228C>A rs886061739
NM_004415.4(DSP):c.-36C>A rs886061743
NM_004415.4(DSP):c.-70C>T rs1757982573
NM_004415.4(DSP):c.-76C>T rs377133467
NM_004415.4(DSP):c.1044+3A>C rs765089914
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1067C>T (p.Thr356Met) rs780626687
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile) rs757853478
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr) rs1554106843
NM_004415.4(DSP):c.1483G>T (p.Val495Leu) rs372014020
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe) rs1064795582
NM_004415.4(DSP):c.1556C>T (p.Ala519Val) rs1395532173
NM_004415.4(DSP):c.178G>A (p.Gly60Ser) rs982933033
NM_004415.4(DSP):c.1848G>A (p.Gln616=) rs1215425090
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) rs1554107098
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu) rs1561690890
NM_004415.4(DSP):c.2153C>T (p.Ala718Val) rs764290255
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys) rs963374775
NM_004415.4(DSP):c.2259G>A (p.Leu753=) rs1759156637
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) rs869025391
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr) rs1393048121
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile) rs1759210367
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn) rs200338012
NM_004415.4(DSP):c.2631-13dup rs1455610668
NM_004415.4(DSP):c.2719C>A (p.Arg907Ser) rs749051278
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro) rs371234425
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe) rs1018173692
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys) rs367763339
NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly) rs886061746
NM_004415.4(DSP):c.3423A>C (p.Gln1141His) rs759288257
NM_004415.4(DSP):c.36C>T (p.Asn12=) rs886061744
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) rs777407386
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser) rs1561697968
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile) rs138599871
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del) rs777457799
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp) rs569786610
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro) rs1173680775
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly) rs780953141
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del) rs1010996982
NM_004415.4(DSP):c.47G>C (p.Arg16Pro) rs752387234
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr) rs1581818435
NM_004415.4(DSP):c.484C>G (p.Arg162Gly) rs760711308
NM_004415.4(DSP):c.4857G>C (p.Leu1619=) rs373385083
NM_004415.4(DSP):c.485G>A (p.Arg162His) rs397516944
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp) rs973569441
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu) rs144106775
NM_004415.4(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.526A>G (p.Ser176Gly) rs1426245453
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.4(DSP):c.5391G>A (p.Arg1797=) rs778745098
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.5933T>C (p.Met1978Thr) rs1322656621
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr) rs771974957
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp) rs374090050
NM_004415.4(DSP):c.6358A>G (p.Thr2120Ala) rs1759528776
NM_004415.4(DSP):c.647A>C (p.Gln216Pro) rs1758736357
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile) rs746533703
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_004415.4(DSP):c.685G>A (p.Gly229Ser) rs376185352
NM_004415.4(DSP):c.694C>T (p.Arg232Cys) rs777847026
NM_004415.4(DSP):c.718G>C (p.Ala240Pro) rs1758741133
NM_004415.4(DSP):c.727-11T>C rs886061745
NM_004415.4(DSP):c.727C>T (p.Arg243Cys) rs1191710190
NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del) rs766860183
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val) rs138798656
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) rs199597935
NM_004415.4(DSP):c.8199G>A (p.Thr2733=) rs145085696
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.8488C>T (p.Arg2830Cys) rs1354218745
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004782.4(SNAP29):c.*1174C>T rs1929090760
NM_004782.4(SNAP29):c.*1438G>A rs1929095759
NM_004782.4(SNAP29):c.*1789C>A rs756339493
NM_004782.4(SNAP29):c.*1874A>C rs1929105241
NM_004782.4(SNAP29):c.*2121dup rs886057272
NM_004782.4(SNAP29):c.*2171T>C rs1929111441
NM_004782.4(SNAP29):c.*2261G>A rs165744
NM_004782.4(SNAP29):c.*2304C>T rs886057274
NM_004782.4(SNAP29):c.*240C>T rs886057265
NM_004782.4(SNAP29):c.*2484G>C rs367880062
NM_004782.4(SNAP29):c.*2564dup rs886057275
NM_004782.4(SNAP29):c.*267C>T rs913695397
NM_004782.4(SNAP29):c.*2738G>A rs1358798270
NM_004782.4(SNAP29):c.*2868A>G rs1929130514
NM_004782.4(SNAP29):c.*2937_*2944del rs361606
NM_004782.4(SNAP29):c.*2944A>G rs1185035865
NM_004782.4(SNAP29):c.*2944del rs361606
NM_004782.4(SNAP29):c.*3035C>T rs886057278
NM_004782.4(SNAP29):c.*472_*483delinsT rs1555915252
NM_004782.4(SNAP29):c.*477AC[20] rs575240461
NM_004782.4(SNAP29):c.*477AC[21] rs575240461
NM_004782.4(SNAP29):c.*477AC[23] rs575240461
NM_004782.4(SNAP29):c.*477AC[24] rs575240461
NM_004782.4(SNAP29):c.*505_*522del rs368659383
NM_004782.4(SNAP29):c.*513_*522del rs771299879
NM_004782.4(SNAP29):c.*515_*522del rs371833796
NM_004782.4(SNAP29):c.*517_*522del rs376990505
NM_004782.4(SNAP29):c.*519_*522del rs747974281
NM_004782.4(SNAP29):c.*590T>C rs1929076871
NM_004782.4(SNAP29):c.*780G>T rs543150102
NM_004782.4(SNAP29):c.*948G>A rs1929085665
NM_004782.4(SNAP29):c.-58C>A rs552560669
NM_004782.4(SNAP29):c.-60G>A rs59194912
NM_004782.4(SNAP29):c.-70_-69del rs886057262
NM_004782.4(SNAP29):c.-93G>T rs534931954
NM_004782.4(SNAP29):c.199A>G (p.Met67Val) rs1198217173
NM_004782.4(SNAP29):c.237+10G>T rs745946295
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004782.4(SNAP29):c.37G>T (p.Asp13Tyr) rs749686029
NM_004782.4(SNAP29):c.435-3A>G rs1928878744
NM_004782.4(SNAP29):c.502A>G (p.Arg168Gly) rs886057264
NM_004782.4(SNAP29):c.520+14T>C rs1928882519
NM_004782.4(SNAP29):c.620-4G>A rs199538534
NM_004782.4(SNAP29):c.697A>G (p.Ile233Val) rs1929053710
NM_006121.4(KRT1):c.*275G>A rs886049634
NM_006121.4(KRT1):c.1002T>C (p.Asn334=) rs1941526192
NM_006121.4(KRT1):c.1318G>A (p.Ala440Thr)
NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro) rs1941504357
NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser) rs1342761835
NM_006121.4(KRT1):c.302G>T (p.Gly101Val) rs147840212
NM_006121.4(KRT1):c.374G>A (p.Gly125Asp) rs886049636
NM_006121.4(KRT1):c.48_49insAC (p.Phe17fs)
NM_017636.4(TRPM4):c.1212C>A (p.Asn404Lys) rs755499876
NM_017636.4(TRPM4):c.1249del (p.Asp417fs) rs750295454
NM_017636.4(TRPM4):c.1495_1506del (p.Arg499_Asp502del)
NM_017636.4(TRPM4):c.1532T>A (p.Leu511Gln) rs200508171
NM_017636.4(TRPM4):c.1603G>T (p.Glu535Ter) rs748187859
NM_017636.4(TRPM4):c.1993_1999del (p.Ala665fs) rs751139020
NM_017636.4(TRPM4):c.23A>T (p.Gln8Leu) rs1057522811
NM_017636.4(TRPM4):c.2513dup (p.Ser839fs) rs747536688
NM_017636.4(TRPM4):c.2645+1G>A rs1568485293
NM_017636.4(TRPM4):c.2664C>G (p.Tyr888Ter) rs2145967337
NM_017636.4(TRPM4):c.2665del (p.His889fs) rs777047595
NM_017636.4(TRPM4):c.2749G>C (p.Gly917Arg) rs745340937
NM_017636.4(TRPM4):c.2785G>A (p.Asp929Asn) rs1555762844
NM_017636.4(TRPM4):c.2894G>A (p.Arg965His) rs150452571
NM_017636.4(TRPM4):c.2915T>A (p.Leu972Gln) rs2145969416
NM_017636.4(TRPM4):c.2932A>G (p.Ile978Val) rs962480684
NM_017636.4(TRPM4):c.3339_3342del (p.Ser1114fs) rs1054561100
NM_017636.4(TRPM4):c.3550C>T (p.Arg1184Cys) rs779436318
NM_017636.4(TRPM4):c.3607G>A (p.Gly1203Arg) rs916697392
NM_017636.4(TRPM4):c.678C>G (p.Asp226Glu) rs730880236
NM_017636.4(TRPM4):c.845AGA[1] (p.Lys283del) rs988711796
NM_020427.3(SLURP1):c.*14G>A rs886062732
NM_020427.3(SLURP1):c.211C>T (p.Arg71Cys)
NM_020751.3(COG6):c.1036G>A (p.Val346Ile) rs1876874289
NM_020751.3(COG6):c.1043A>G (p.His348Arg) rs2138012022
NM_020751.3(COG6):c.1105C>T (p.Pro369Ser)
NM_020751.3(COG6):c.1286T>C (p.Val429Ala)
NM_020751.3(COG6):c.1426T>C (p.Cys476Arg)
NM_020751.3(COG6):c.172A>G (p.Lys58Glu)
NM_020751.3(COG6):c.1746+2T>G rs1555280464
NM_020751.3(COG6):c.1826+3A>C rs768907183
NM_020751.3(COG6):c.1883A>G (p.Tyr628Cys)
NM_020751.3(COG6):c.1910A>C (p.Glu637Ala) rs1284095057
NM_020751.3(COG6):c.1941_1944del (p.Ser648fs)
NM_020751.3(COG6):c.203G>A (p.Ser68Asn)
NM_020751.3(COG6):c.26T>A (p.Val9Asp) rs2137932050
NM_020751.3(COG6):c.299A>T (p.Glu100Val) rs866336771
NM_020751.3(COG6):c.535A>G (p.Thr179Ala) rs1322763277
NM_020751.3(COG6):c.53A>G (p.Asn18Ser) rs2137932213
NM_020751.3(COG6):c.695G>A (p.Ser232Asn) rs780879386
NM_020751.3(COG6):c.70G>T (p.Ala24Ser) rs539907116
NM_020751.3(COG6):c.739G>A (p.Val247Ile)
NM_020751.3(COG6):c.766C>A (p.Gln256Lys)
NM_020751.3(COG6):c.788+5G>A
NM_020751.3(COG6):c.80C>G (p.Thr27Ser) rs776763438
NM_020751.3(COG6):c.851C>T (p.Ala284Val) rs148869108
NM_020751.3(COG6):c.871G>A (p.Gly291Arg)
NM_020751.3(COG6):c.956C>T (p.Thr319Ile) rs1428739783
NM_020751.3(COG6):c.989T>C (p.Leu330Ser) rs1876747862
NM_020751.3(COG6):c.9G>C (p.Glu3Asp) rs1016478271
NM_024009.3(GJB3):c.*120C>T rs1057515479
NM_024009.3(GJB3):c.*172G>A rs1640104946
NM_024009.3(GJB3):c.*481C>T rs1640110951
NM_024009.3(GJB3):c.*532del rs935438706
NM_024009.3(GJB3):c.*541G>A rs1057515516
NM_024009.3(GJB3):c.-285C>A rs1640008053
NM_024009.3(GJB3):c.-293C>G rs1640007942
NM_024009.3(GJB3):c.-383G>A rs1057515476
NM_024009.3(GJB3):c.-398C>G rs1057515443
NM_024009.3(GJB3):c.-480G>C rs1326117272
NM_024009.3(GJB3):c.-70C>T rs1640012751
NM_024009.3(GJB3):c.-93C>T rs1057515515
NM_024009.3(GJB3):c.342del (p.Lys115fs) rs748575478
NM_024009.3(GJB3):c.350dup (p.Tyr117Ter)
NM_024009.3(GJB3):c.371A>G (p.His124Arg)
NM_024009.3(GJB3):c.379C>T (p.Leu127=) rs1640085400
NM_024009.3(GJB3):c.491G>A (p.Cys164Tyr) rs756737667
NM_025216.2(WNT10A):c.-194dup rs886055639
NM_025216.2(WNT10A):c.-202G>C rs886055638
NM_025216.2(WNT10A):c.-249G>C rs571829301
NM_025216.2(WNT10A):c.-358G>A rs886055635
NM_025216.2(WNT10A):c.-370C>A rs886055634
NM_025216.2(WNT10A):c.-433C>G rs886055633
NM_025216.3(WNT10A):c.*139C>G rs1944681589
NM_025216.3(WNT10A):c.*339C>T rs1944683536
NM_025216.3(WNT10A):c.*441C>T rs886055647
NM_025216.3(WNT10A):c.1034T>C (p.Phe345Ser) rs1553623335
NM_025216.3(WNT10A):c.1035C>A (p.Phe345Leu) rs1944675395
NM_025216.3(WNT10A):c.1036T>C (p.Cys346Arg)
NM_025216.3(WNT10A):c.1040A>C (p.Glu347Ala)
NM_025216.3(WNT10A):c.1049C>T (p.Pro350Leu) rs564146190
NM_025216.3(WNT10A):c.1085G>T (p.Cys362Phe) rs1575235098
NM_025216.3(WNT10A):c.1120_1134dup (p.Gly378_Arg379insSerMetCysCysGly)
NM_025216.3(WNT10A):c.1124T>G (p.Met375Arg) rs773598047
NM_025216.3(WNT10A):c.1127G>C (p.Cys376Ser)
NM_025216.3(WNT10A):c.1140_1141insGCGGCC (p.Gly380_His381insAlaAla)
NM_025216.3(WNT10A):c.1154G>A (p.Arg385His)
NM_025216.3(WNT10A):c.1199G>C (p.Cys400Ser) rs1575235227
NM_025216.3(WNT10A):c.1204G>A (p.Val402Met)
NM_025216.3(WNT10A):c.1212C>G (p.Cys404Trp) rs1553623396
NM_025216.3(WNT10A):c.1223G>A (p.Arg408His)
NM_025216.3(WNT10A):c.1247G>C (p.Cys416Ser)
NM_025216.3(WNT10A):c.152C>T (p.Pro51Leu)
NM_025216.3(WNT10A):c.166A>G (p.Asn56Asp) rs992196031
NM_025216.3(WNT10A):c.275C>T (p.Ala92Val) rs1553622317
NM_025216.3(WNT10A):c.293A>C (p.His98Pro)
NM_025216.3(WNT10A):c.315G>C (p.Trp105Cys) rs886055642
NM_025216.3(WNT10A):c.323C>T (p.Ser108Leu) rs2106011706
NM_025216.3(WNT10A):c.364A>T (p.Ile122Phe) rs201929547
NM_025216.3(WNT10A):c.38G>C (p.Arg13Pro)
NM_025216.3(WNT10A):c.433G>A (p.Val145Met) rs543063101
NM_025216.3(WNT10A):c.434T>C (p.Val145Ala)
NM_025216.3(WNT10A):c.456C>T (p.Gly152=) rs1359098202
NM_025216.3(WNT10A):c.483G>C (p.Ala161=) rs200751156
NM_025216.3(WNT10A):c.542C>T (p.Ala181Val)
NM_025216.3(WNT10A):c.554G>A (p.Gly185Asp) rs1458852116
NM_025216.3(WNT10A):c.59C>A (p.Pro20Gln)
NM_025216.3(WNT10A):c.623C>T (p.Ser208Phe) rs756543596
NM_025216.3(WNT10A):c.640T>C (p.Cys214Arg)
NM_025216.3(WNT10A):c.653T>G (p.Met218Arg) rs759559158
NM_025216.3(WNT10A):c.664G>A (p.Glu222Lys) rs377416834
NM_025216.3(WNT10A):c.667C>T (p.Arg223Cys) rs149245953
NM_025216.3(WNT10A):c.719C>T (p.Ala240Val) rs201578578
NM_025216.3(WNT10A):c.756+13C>A rs745958462
NM_025216.3(WNT10A):c.775C>T (p.Arg259Trp)
NM_025216.3(WNT10A):c.791G>T (p.Cys264Phe) rs1944669118
NM_025216.3(WNT10A):c.796G>A (p.Gly266Ser) rs778752861
NM_025216.3(WNT10A):c.801G>A (p.Thr267=) rs553058408
NM_025216.3(WNT10A):c.841C>A (p.Pro281Thr) rs541715493
NM_025216.3(WNT10A):c.841C>G (p.Pro281Ala) rs541715493
NM_025216.3(WNT10A):c.914G>T (p.Arg305Leu) rs746769946
NM_025216.3(WNT10A):c.919G>C (p.Gly307Arg)
NM_025216.3(WNT10A):c.958C>T (p.Pro320Ser) rs1944673587
NM_025216.3(WNT10A):c.987_989dup (p.Arg330dup) rs1416466883
NM_033004.4(NLRP1):c.2870+1G>A rs2151770656
NM_033004.4(NLRP1):c.2960G>A (p.Arg987Gln)
NM_033004.4(NLRP1):c.4181C>A (p.Thr1394Lys) rs1597390369
NM_033004.4(NLRP1):c.4399_4404del (p.Gly1467_Leu1468del)
NM_033004.4(NLRP1):c.922C>T (p.Arg308Ter) rs758319723
NM_153212.3(GJB4):c.121G>A (p.Glu41Lys)
NM_153212.3(GJB4):c.1del (p.Met1*)
NM_153212.3(GJB4):c.507C>A (p.Cys169Ter)

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