ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1586
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_004999.4(MYO6):c.2658+17C>T rs2295936 0.22603
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_004999.4(MYO6):c.553+11T>C rs12210963 0.13246
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_002473.6(MYH9):c.1108+19C>T rs78323081 0.02129
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_002160.4(TNC):c.6006G>A (p.Leu2002=) rs61736828 0.01597
NM_001854.4(COL11A1):c.651+16A>G rs116303092 0.01555
NM_002160.4(TNC):c.3353G>A (p.Arg1118Gln) rs61738263 0.01534
NM_001854.4(COL11A1):c.2611-4C>T rs79505593 0.01381
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_001376256.1(CRYM):c.741C>T (p.Tyr247=) rs34045013 0.01064
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) rs11568528 0.00987
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_001191057.4(PDE1C):c.525C>T (p.Ser175=) rs76290787 0.00897
NM_004100.5(EYA4):c.*2799C>A rs143596676 0.00882
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_139319.3(SLC17A8):c.355-4C>A rs11568531 0.00670
NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=) rs185755490 0.00640
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=) rs186848048 0.00581
NM_024009.3(GJB3):c.579C>T (p.Gly193=) rs61744512 0.00526
NM_001046.3(SLC12A2):c.524G>C (p.Gly175Ala) rs149585221 0.00499
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_005909.5(MAP1B):c.4902C>T (p.Pro1634=) rs34984533 0.00426
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_002473.6(MYH9):c.2229+13G>T rs139146113 0.00377
NM_024915.4(GRHL2):c.1098+9C>T rs189993760 0.00370
NM_004100.5(EYA4):c.*2918G>A rs75986250 0.00369
NM_001145026.2(PTPRQ):c.3607T>C (p.Tyr1203His) rs61729273 0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001039213.4(CEACAM16):c.234C>T (p.Gly78=) rs73568059 0.00319
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860 0.00261
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_001046.3(SLC12A2):c.102G>A (p.Leu34=) rs535757373 0.00241
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_001145809.2(MYH14):c.1329+15C>T rs200176028 0.00227
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_001378457.1(DMXL2):c.3860G>T (p.Ser1287Ile) rs78240149 0.00190
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_005909.5(MAP1B):c.5193C>A (p.Ser1731=) rs78388066 0.00159
NM_001046.3(SLC12A2):c.2322A>C (p.Ser774=) rs115357531 0.00153
NM_001376256.1(CRYM):c.524A>T (p.Glu175Val) rs141936944 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val) rs200166814 0.00141
NM_002473.6(MYH9):c.705+14C>T rs142552338 0.00139
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_001145809.2(MYH14):c.563-17C>A rs201570558 0.00116
NM_002473.6(MYH9):c.2913G>A (p.Ala971=) rs200763055 0.00116
NM_002473.6(MYH9):c.1228-16C>T rs186815044 0.00106
NM_001046.3(SLC12A2):c.3468A>G (p.Leu1156=) rs115092488 0.00098
NM_001046.3(SLC12A2):c.876+17_876+18del rs556046317 0.00094
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr) rs75123867 0.00089
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) rs76069100 0.00088
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=) rs147419066 0.00086
NM_001243133.2(NLRP3):c.2151-7T>C rs116546330 0.00084
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908 0.00084
NM_001046.3(SLC12A2):c.2748A>T (p.Gly916=) rs141683516 0.00080
NM_002473.6(MYH9):c.1843+14C>A rs372865551 0.00078
NM_006005.3(WFS1):c.1143G>A (p.Leu381=) rs151153967 0.00078
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_001046.3(SLC12A2):c.2005+9T>C rs10463502 0.00071
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073 0.00070
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067 0.00070
NM_000260.4(MYO7A):c.2283-20C>T rs371838579 0.00068
NM_001046.3(SLC12A2):c.261C>T (p.Ser87=) rs543480974 0.00068
NM_001046.3(SLC12A2):c.3100+13A>T rs199929591 0.00066
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) rs144179406 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_000260.4(MYO7A):c.3750+5G>A rs111033391 0.00063
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_004004.6(GJB2):c.*115A>C rs557953001 0.00058
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_001243133.2(NLRP3):c.2301C>G (p.Gly767=) rs150229101 0.00057
NM_002473.6(MYH9):c.4095+20C>T rs201994553 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_005219.5(DIAPH1):c.*88C>T rs574596779 0.00056
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_001378457.1(DMXL2):c.7543A>G (p.Met2515Val) rs72729259 0.00054
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_001046.3(SLC12A2):c.495C>T (p.Asp165=) rs138234695 0.00051
NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val) rs201174456 0.00050
NM_001243133.2(NLRP3):c.203T>C (p.Met68Thr) rs147559626 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_002473.6(MYH9):c.3485+18G>C rs200835614 0.00046
NM_001046.3(SLC12A2):c.953-7C>T rs201608609 0.00044
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) rs372509310 0.00043
NM_006005.3(WFS1):c.2085C>T (p.Gly695=) rs150568382 0.00043
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val) rs144492050 0.00042
NM_002473.6(MYH9):c.1167C>T (p.Ile389=) rs114048959 0.00039
NM_002473.6(MYH9):c.769+15C>T rs201691359 0.00039
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606 0.00039
NM_002473.6(MYH9):c.5765+9C>T rs201008102 0.00038
NM_005982.4(SIX1):c.615T>G (p.Pro205=) rs148433316 0.00037
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_004100.5(EYA4):c.*2511G>A rs560590444 0.00035
NM_004100.5(EYA4):c.*3226A>C rs73546871 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006005.3(WFS1):c.1610G>A (p.Cys537Tyr) rs199910987 0.00034
NM_002473.6(MYH9):c.3943-7C>A rs376396278 0.00032
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) rs141233896 0.00032
NM_001378457.1(DMXL2):c.1339G>A (p.Asp447Asn) rs149014761 0.00031
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_006005.3(WFS1):c.1693C>G (p.Leu565Val) rs200058166 0.00031
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) rs145677667 0.00031
NM_138691.3(TMC1):c.1534C>T (p.Arg512Ter) rs200171616 0.00031
NM_001046.3(SLC12A2):c.1941A>G (p.Lys647=) rs190573592 0.00030
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00029
NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=) rs141637807 0.00029
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) rs138946894 0.00029
NM_002473.6(MYH9):c.3195C>A (p.Ala1065=) rs148781875 0.00029
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374 0.00029
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_002473.6(MYH9):c.4664A>G (p.Lys1555Arg) rs141543499 0.00027
NM_178335.3(CCDC50):c.227G>A (p.Arg76His) rs138443787 0.00027
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_001046.3(SLC12A2):c.2493C>A (p.Ala831=) rs138341229 0.00026
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_005612.5(REST):c.898+15C>T rs148949163 0.00026
NM_001243133.2(NLRP3):c.638A>G (p.His213Arg) rs150396172 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_006005.3(WFS1):c.1470C>T (p.Thr490=) rs146027767 0.00025
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_006005.3(WFS1):c.1419C>T (p.Ser473=) rs150997327 0.00024
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp) rs149071920 0.00024
NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) rs11568530 0.00024
NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys) rs149540655 0.00023
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_002473.6(MYH9):c.2085C>T (p.Asn695=) rs375953430 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_006005.3(WFS1):c.2266C>T (p.Arg756Cys) rs138127684 0.00022
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_005422.4(TECTA):c.6100G>A (p.Asp2034Asn) rs202092043 0.00021
NM_006005.3(WFS1):c.712+19C>T rs376973865 0.00021
NM_001243133.2(NLRP3):c.2703T>G (p.Ala901=) rs138089800 0.00020
NM_001286445.3(RIPOR2):c.1164+482A>G rs745360194 0.00020
NM_002473.6(MYH9):c.3255C>T (p.Leu1085=) rs142427583 0.00020
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) rs112967046 0.00020
NM_006005.3(WFS1):c.712+8C>T rs369185545 0.00020
NM_006005.3(WFS1):c.762C>T (p.Tyr254=) rs140266808 0.00020
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609 0.00020
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_001046.3(SLC12A2):c.2511C>T (p.Ile837=) rs1053614 0.00019
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys) rs200095753 0.00019
NM_006005.3(WFS1):c.1377G>A (p.Leu459=) rs143672793 0.00019
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_006005.3(WFS1):c.315+18G>A rs375473654 0.00019
NM_080680.3(COL11A2):c.4230+13C>G rs200051654 0.00019
NM_004100.5(EYA4):c.1617-13C>G rs756045097 0.00018
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204 0.00018
NM_006005.3(WFS1):c.2622C>T (p.Ala874=) rs141052196 0.00018
NM_001046.3(SLC12A2):c.41G>T (p.Gly14Val) rs1014756958 0.00017
NM_002473.6(MYH9):c.2808G>A (p.Ala936=) rs200550959 0.00017
NM_002473.6(MYH9):c.5483+18C>T rs376924627 0.00017
NM_002473.6(MYH9):c.705+15G>A rs373901192 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_006005.3(WFS1):c.1755C>T (p.Phe585=) rs1801210 0.00017
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_001046.3(SLC12A2):c.1128C>T (p.Asn376=) rs371700719 0.00016
NM_001243133.2(NLRP3):c.2611G>A (p.Ala871Thr) rs201867582 0.00016
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=) rs147961725 0.00016
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn) rs138193963 0.00016
NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg) rs148985828 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) rs367981585 0.00016
NM_005422.4(TECTA):c.5586+12A>G rs199723136 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006005.3(WFS1):c.2365G>A (p.Gly789Ser) rs376974936 0.00016
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys) rs148089728 0.00016
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) rs147724970 0.00016
NM_006005.3(WFS1):c.801C>T (p.Asp267=) rs147734431 0.00016
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291 0.00016
NM_001243133.2(NLRP3):c.488A>G (p.Asn163Ser) rs199475733 0.00015
NM_002473.6(MYH9):c.2295C>T (p.Ala765=) rs150133983 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_006005.3(WFS1):c.71G>A (p.Arg24His) rs71524364 0.00015
NM_001046.3(SLC12A2):c.235A>C (p.Ser79Arg) rs557916029 0.00014
NM_001243133.2(NLRP3):c.1623G>A (p.Arg541=) rs756547568 0.00014
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_005612.5(REST):c.2065C>T (p.Pro689Ser) rs149486440 0.00014
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys) rs144993516 0.00014
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 0.00014
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln) rs142411476 0.00014
NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val) rs201981435 0.00014
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) rs200304238 0.00013
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser) rs140662138 0.00013
NM_002473.6(MYH9):c.928A>G (p.Ile310Val) rs149789202 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006005.3(WFS1):c.1492G>A (p.Val498Ile) rs71524358 0.00013
NM_024009.3(GJB3):c.250G>A (p.Val84Ile) rs145751680 0.00013
NM_001046.3(SLC12A2):c.1773+15T>C rs199958255 0.00012
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys) rs556541366 0.00012
NM_002473.6(MYH9):c.1212G>A (p.Ala404=) rs148832136 0.00012
NM_002473.6(MYH9):c.504A>G (p.Gln168=) rs760974197 0.00012
NM_002473.6(MYH9):c.5593-4G>A rs369769391 0.00012
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro) rs376341411 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_001039213.4(CEACAM16):c.1191C>A (p.Asp397Glu) rs543881691 0.00011
NM_001046.3(SLC12A2):c.788A>C (p.Glu263Ala) rs367694835 0.00011
NM_001145809.2(MYH14):c.1067C>T (p.Thr356Met) rs151082668 0.00011
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp) rs397516629 0.00011
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_001286445.3(RIPOR2):c.502-10A>C rs199905499 0.00011
NM_001614.5(ACTG1):c.561C>T (p.Asp187=) rs782649322 0.00011
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser) rs201849355 0.00011
NM_002473.6(MYH9):c.3701A>G (p.Lys1234Arg) rs544801273 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005612.5(REST):c.302G>A (p.Gly101Asp) rs150412877 0.00011
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly) rs767561828 0.00011
NM_006005.3(WFS1):c.1752G>A (p.Gln584=) rs76577786 0.00011
NM_006005.3(WFS1):c.1817T>G (p.Val606Gly) rs756252214 0.00011
NM_006005.3(WFS1):c.437G>A (p.Arg146His) rs34446752 0.00011
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile) rs188848517 0.00011
NM_000260.4(MYO7A):c.1343+6G>A rs201886336 0.00010
NM_000260.4(MYO7A):c.4353C>T (p.Ala1451=) rs372336857 0.00010
NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln) rs763472009 0.00010
NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro) rs151205016 0.00010
NM_001286445.3(RIPOR2):c.1142C>G (p.Thr381Ser) rs765214729 0.00010
NM_002473.6(MYH9):c.1012+20A>G rs748163536 0.00010
NM_002473.6(MYH9):c.2115C>T (p.Arg705=) rs372243275 0.00010
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) rs71532861 0.00010
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026 0.00010
NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=) rs765931315 0.00010
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197 0.00009
NM_001127453.2(GSDME):c.635C>T (p.Pro212Leu) rs145754170 0.00009
NM_001135022.2(ELMOD3):c.269-13C>T rs188058240 0.00009
NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr) rs138061418 0.00009
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln) rs200378519 0.00009
NM_001243133.2(NLRP3):c.526C>T (p.Arg176Trp) rs201867990 0.00009
NM_002473.6(MYH9):c.4008C>T (p.Asp1336=) rs373378393 0.00009
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) rs145319741 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala) rs767366742 0.00009
NM_006005.3(WFS1):c.1494C>T (p.Val498=) rs778206175 0.00009
NM_006005.3(WFS1):c.1770G>A (p.Thr590=) rs71532858 0.00009
NM_006005.3(WFS1):c.1871T>C (p.Val624Ala) rs747477628 0.00009
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr) rs201335980 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006005.3(WFS1):c.747G>A (p.Glu249=) rs752638064 0.00009
NM_006005.3(WFS1):c.862-19C>T rs370767782 0.00009
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr) rs200790641 0.00009
NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys) rs376169396 0.00008
NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys) rs782276809 0.00008
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala) rs758332732 0.00008
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00008
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=) rs372311564 0.00008
NM_001046.3(SLC12A2):c.877-16C>G rs530956302 0.00008
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_002473.6(MYH9):c.4558-11C>G rs200820677 0.00008
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp) rs527571090 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_005982.4(SIX1):c.474C>T (p.Ala158=) rs199743522 0.00008
NM_006005.3(WFS1):c.1148G>A (p.Arg383His) rs369450642 0.00008
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val) rs574657627 0.00008
NM_006005.3(WFS1):c.2391C>T (p.Asp797=) rs548415089 0.00008
NM_006005.3(WFS1):c.393C>T (p.Val131=) rs758199900 0.00008
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=) rs151097783 0.00007
NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala) rs770791406 0.00007
NM_001243133.2(NLRP3):c.277+11G>A rs577522959 0.00007
NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala) rs754354210 0.00007
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) rs767426084 0.00007
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys) rs932450184 0.00007
NM_006005.3(WFS1):c.1633G>A (p.Val545Met) rs201993978 0.00007
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) rs71524377 0.00007
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892 0.00007
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser) rs780727054 0.00007
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu) rs373669861 0.00007
NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val) rs141811441 0.00007
NM_000260.4(MYO7A):c.*208C>G rs886048684 0.00006
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys) rs780609120 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His) rs761867896 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) rs199696688 0.00006
NM_001243133.2(NLRP3):c.2150+16T>C rs368389907 0.00006
NM_001243133.2(NLRP3):c.2214C>T (p.Ser738=) rs183128734 0.00006
NM_001243133.2(NLRP3):c.2709C>G (p.Ser903=) rs145787821 0.00006
NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His) rs148150585 0.00006
NM_001376256.1(CRYM):c.761C>T (p.Ala254Val) rs727505275 0.00006
NM_001854.4(COL11A1):c.4032+16A>G rs200202502 0.00006
NM_002473.6(MYH9):c.1788C>T (p.Ile596=) rs113130911 0.00006
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) rs375955867 0.00006
NM_002473.6(MYH9):c.4479G>A (p.Ala1493=) rs149271663 0.00006
NM_002473.6(MYH9):c.4684C>G (p.Leu1562Val) rs139039608 0.00006
NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln) rs149169068 0.00006
NM_004004.6(GJB2):c.-1G>A rs768338285 0.00006
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710 0.00006
NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp) rs752658856 0.00006
NM_005422.4(TECTA):c.1391A>G (p.Tyr464Cys) rs139269834 0.00006
NM_005422.4(TECTA):c.3216C>T (p.Cys1072=) rs760328639 0.00006
NM_005612.5(REST):c.527A>G (p.His176Arg) rs375735172 0.00006
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) rs181988441 0.00006
NM_006005.3(WFS1):c.1181A>T (p.Glu394Val) rs146563951 0.00006
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) rs138771366 0.00006
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys) rs141585847 0.00006
NM_006005.3(WFS1):c.1366C>T (p.Arg456Cys) rs144452795 0.00006
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys) rs371911218 0.00006
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile) rs372663248 0.00006
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) rs71524360 0.00006
NM_006005.3(WFS1):c.1791C>T (p.Ile597=) rs141883293 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys) rs201623184 0.00006
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln) rs140667597 0.00006
NM_006005.3(WFS1):c.2552T>G (p.Met851Arg) rs758613421 0.00006
NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys) rs148611943 0.00006
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr) rs200775335 0.00006
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) rs760256649 0.00006
NM_006005.3(WFS1):c.315+17C>T rs766977344 0.00006
NM_006005.3(WFS1):c.514C>T (p.Leu172=) rs371632935 0.00006
NM_006005.3(WFS1):c.638G>A (p.Gly213Glu) rs767957602 0.00006
NM_006005.3(WFS1):c.642G>A (p.Ala214=) rs761245713 0.00006
NM_006005.3(WFS1):c.656T>C (p.Val219Ala) rs373662682 0.00006
NM_006005.3(WFS1):c.824C>G (p.Ala275Gly) rs769151204 0.00006
NM_006005.3(WFS1):c.862-3C>G rs201889635 0.00006
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) rs369795224 0.00006
NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys) rs372449299 0.00006
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys) rs727504458 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter) rs151001642 0.00006
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met) rs953533173 0.00005
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) rs544639673 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys) rs369910640 0.00005
NM_001243133.2(NLRP3):c.309T>C (p.Thr103=) rs199822721 0.00005
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=) rs531623930 0.00005
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_004100.5(EYA4):c.*732A>G rs902919934 0.00005
NM_005422.4(TECTA):c.4965C>T (p.Gly1655=) rs200769761 0.00005
NM_006005.3(WFS1):c.1026C>T (p.Ala342=) rs777072078 0.00005
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys) rs759466443 0.00005
NM_006005.3(WFS1):c.1471G>A (p.Val491Met) rs143597170 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser) rs753237278 0.00005
NM_006005.3(WFS1):c.1958G>A (p.Arg653His) rs199697430 0.00005
NM_006005.3(WFS1):c.2392G>A (p.Val798Ile) rs377712049 0.00005
NM_006005.3(WFS1):c.444C>T (p.Cys148=) rs998539254 0.00005
NM_006005.3(WFS1):c.477C>T (p.Asn159=) rs753964845 0.00005
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys) rs148953711 0.00005
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu) rs376335216 0.00005
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085 0.00004
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) rs782757893 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His) rs199607235 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654 0.00004
NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu) rs757896867 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln) rs765083332 0.00004
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=) rs994458759 0.00004
NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met) rs199856287 0.00004
NM_001243133.2(NLRP3):c.2270G>C (p.Arg757Thr) rs201466599 0.00004
NM_001243133.2(NLRP3):c.329G>A (p.Ser110Asn) rs202050558 0.00004
NM_001378457.1(DMXL2):c.3108G>T (p.Glu1036Asp) rs376728796 0.00004
NM_001854.4(COL11A1):c.2241+6T>C rs374197371 0.00004
NM_002473.6(MYH9):c.1057G>A (p.Val353Ile) rs375702969 0.00004
NM_002473.6(MYH9):c.1686G>A (p.Leu562=) rs199506577 0.00004
NM_002473.6(MYH9):c.2159+6C>T rs748916231 0.00004
NM_002473.6(MYH9):c.2714G>A (p.Arg905His) rs727503289 0.00004
NM_002473.6(MYH9):c.2838+19C>T rs199611979 0.00004
NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val) rs535649291 0.00004
NM_002473.6(MYH9):c.4150G>C (p.Glu1384Gln) rs200616409 0.00004
NM_002473.6(MYH9):c.5630G>A (p.Arg1877Gln) rs759777823 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 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_004100.5(EYA4):c.*2049T>C rs752513150 0.00004
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00004
NM_005982.4(SIX1):c.681C>A (p.Asp227Glu) rs149265761 0.00004
NM_005982.4(SIX1):c.816C>T (p.Leu272=) rs750377629 0.00004
NM_006005.3(WFS1):c.1072G>C (p.Val358Leu) rs969150051 0.00004
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys) rs373146435 0.00004
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr) rs151244358 0.00004
NM_006005.3(WFS1):c.1220A>G (p.His407Arg) rs140407862 0.00004
NM_006005.3(WFS1):c.1264G>A (p.Ala422Thr) rs773280611 0.00004
NM_006005.3(WFS1):c.1320C>T (p.Thr440=) rs762339922 0.00004
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr) rs71524357 0.00004
NM_006005.3(WFS1):c.1442T>C (p.Leu481Pro) rs756067305 0.00004
NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser) rs760692398 0.00004
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile) rs573775230 0.00004
NM_006005.3(WFS1):c.1784C>T (p.Thr595Ile) rs148544389 0.00004
NM_006005.3(WFS1):c.1929C>T (p.Ile643=) rs544473222 0.00004
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) rs765322804 0.00004
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro) rs369656458 0.00004
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) rs757027394 0.00004
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) rs138165486 0.00004
NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys) rs201888856 0.00004
NM_006005.3(WFS1):c.2118C>T (p.Tyr706=) rs375408391 0.00004
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) rs71532863 0.00004
NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn) rs575778537 0.00004
NM_006005.3(WFS1):c.2213C>A (p.Ala738Asp) rs756962408 0.00004
NM_006005.3(WFS1):c.2293del (p.Cys765fs) rs1381011685 0.00004
NM_006005.3(WFS1):c.2299A>C (p.Ile767Leu) rs779199009 0.00004
NM_006005.3(WFS1):c.2349C>T (p.Phe783=) rs759746525 0.00004
NM_006005.3(WFS1):c.2520C>T (p.Phe840=) rs777254962 0.00004
NM_006005.3(WFS1):c.2607C>T (p.Ser869=) rs1410561677 0.00004
NM_006005.3(WFS1):c.2619C>T (p.Gly873=) rs370977482 0.00004
NM_006005.3(WFS1):c.2663C>T (p.Ser888Leu) rs547089139 0.00004
NM_006005.3(WFS1):c.2664G>A (p.Ser888=) rs756116434 0.00004
NM_006005.3(WFS1):c.613G>A (p.Gly205Ser) rs770713329 0.00004
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn) rs138682654 0.00004
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531 0.00004
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala) rs779116250 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.2737-4C>T rs1322401943 0.00004
NM_080680.3(COL11A2):c.362G>A (p.Arg121His) rs148765616 0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00004
NM_138691.3(TMC1):c.956C>G (p.Thr319Ser) rs142629075 0.00004
NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys) rs374159026 0.00004
NM_000260.4(MYO7A):c.2717G>A (p.Arg906His) rs868977760 0.00003
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710 0.00003
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=) rs376743356 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_001046.3(SLC12A2):c.3100+20T>A rs776147551 0.00003
NM_001110219.3(GJB6):c.228del (p.Trp77fs) rs751484173 0.00003
NM_001135022.2(ELMOD3):c.701C>T (p.Ala234Val) rs779560360 0.00003
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu) rs371300947 0.00003
NM_001145809.2(MYH14):c.3913C>T (p.Arg1305Cys) rs755704452 0.00003
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001243133.2(NLRP3):c.147T>C (p.His49=) rs199687987 0.00003
NM_001243133.2(NLRP3):c.1669A>G (p.Thr557Ala) rs180177461 0.00003
NM_001243133.2(NLRP3):c.2321+11G>A rs371752834 0.00003
NM_001243133.2(NLRP3):c.403C>T (p.Arg135Cys) rs201525433 0.00003
NM_002473.6(MYH9):c.1201G>A (p.Val401Ile) rs369581570 0.00003
NM_002473.6(MYH9):c.1519G>A (p.Asp507Asn) rs377410439 0.00003
NM_002473.6(MYH9):c.193G>A (p.Val65Met) rs377348805 0.00003
NM_002473.6(MYH9):c.2911G>A (p.Ala971Thr) rs751639664 0.00003
NM_002473.6(MYH9):c.3181A>T (p.Ser1061Cys) rs199971000 0.00003
NM_002473.6(MYH9):c.4079C>G (p.Ala1360Gly) rs373384951 0.00003
NM_002473.6(MYH9):c.4218C>T (p.Ala1406=) rs142957635 0.00003
NM_002473.6(MYH9):c.4897C>T (p.Arg1633Trp) rs757547632 0.00003
NM_002473.6(MYH9):c.5173C>T (p.Arg1725Trp) rs547770783 0.00003
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) rs727503281 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.195C>T (p.Tyr65=) rs763572195 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004100.5(EYA4):c.*3267C>A rs886061099 0.00003
NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln) rs762144530 0.00003
NM_004100.5(EYA4):c.860C>T (p.Ala287Val) rs374522988 0.00003
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) rs367890569 0.00003
NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu) rs980820643 0.00003
NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser) rs372399868 0.00003
NM_005612.5(REST):c.843C>T (p.Cys281=) rs751201019 0.00003
NM_005982.4(SIX1):c.191G>A (p.Arg64His) rs1051653507 0.00003
NM_006005.3(WFS1):c.1008C>G (p.Leu336=) rs755063164 0.00003
NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr) rs942866942 0.00003
NM_006005.3(WFS1):c.1467C>G (p.Ile489Met) rs768029820 0.00003
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) rs544933961 0.00003
NM_006005.3(WFS1):c.1680C>T (p.Ser560=) rs760906868 0.00003
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val) rs749172015 0.00003
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter) rs143064649 0.00003
NM_006005.3(WFS1):c.1883C>T (p.Thr628Met) rs368236000 0.00003
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly) rs143280847 0.00003
NM_006005.3(WFS1):c.226G>A (p.Gly76Ser) rs566587586 0.00003
NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala) rs377102310 0.00003
NM_006005.3(WFS1):c.2377C>T (p.Arg793Cys) rs71526462 0.00003
NM_006005.3(WFS1):c.2406C>T (p.Ile802=) rs201102144 0.00003
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe) rs771391168 0.00003
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) rs142428158 0.00003
NM_006005.3(WFS1):c.882C>T (p.His294=) rs571928866 0.00003
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) rs727504730 0.00003
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) rs144888979 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292 0.00002
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117 0.00002
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro) rs751034678 0.00002
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) rs1052032 0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126 0.00002
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474 0.00002
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met) rs746667217 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) rs121965080 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_001039213.4(CEACAM16):c.1135C>T (p.Arg379Trp) rs771692758 0.00002
NM_001046.3(SLC12A2):c.2475+11A>G rs763550873 0.00002
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_001243133.2(NLRP3):c.1371G>T (p.Glu457Asp) rs191754224 0.00002
NM_001243133.2(NLRP3):c.1384G>A (p.Ala462Thr) rs762512734 0.00002
NM_001243133.2(NLRP3):c.1918T>G (p.Phe640Val) rs1024570390 0.00002
NM_001243133.2(NLRP3):c.2150+4A>G rs765108346 0.00002
NM_001243133.2(NLRP3):c.219C>T (p.Phe73=) rs201980166 0.00002
NM_001243133.2(NLRP3):c.2285C>T (p.Thr762Met) rs759466218 0.00002
NM_001243133.2(NLRP3):c.2336G>A (p.Gly779Asp) rs768252357 0.00002
NM_001243133.2(NLRP3):c.2536G>C (p.Ala846Pro) rs773376112 0.00002
NM_001243133.2(NLRP3):c.2738C>T (p.Thr913Met) rs765925466 0.00002
NM_001243133.2(NLRP3):c.2812G>A (p.Asp938Asn) rs201260331 0.00002
NM_001243133.2(NLRP3):c.2856G>A (p.Thr952=) rs200474558 0.00002
NM_001243133.2(NLRP3):c.3080C>T (p.Thr1027Ile) rs775502273 0.00002
NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) rs188623199 0.00002
NM_001243133.2(NLRP3):c.397+6C>T rs201165941 0.00002
NM_001243133.2(NLRP3):c.503G>A (p.Arg168Gln) rs180177464 0.00002
NM_001243133.2(NLRP3):c.865G>A (p.Val289Met) rs145092553 0.00002
NM_001376256.1(CRYM):c.907G>A (p.Ala303Thr) rs727502945 0.00002
NM_002473.6(MYH9):c.1849C>T (p.Arg617Cys) rs747144646 0.00002
NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys) rs377115843 0.00002
NM_002473.6(MYH9):c.2838+10C>T rs1027216058 0.00002
NM_002473.6(MYH9):c.2844T>G (p.Leu948=) rs763022319 0.00002
NM_002473.6(MYH9):c.3082A>G (p.Met1028Val) rs1205000981 0.00002
NM_002473.6(MYH9):c.3272+19C>T rs984743795 0.00002
NM_002473.6(MYH9):c.3742A>G (p.Lys1248Glu) rs1276028189 0.00002
NM_002473.6(MYH9):c.4302G>C (p.Gln1434His) rs143979758 0.00002
NM_002473.6(MYH9):c.4352C>T (p.Ala1451Val) rs759107183 0.00002
NM_002473.6(MYH9):c.5431G>A (p.Ala1811Thr) rs1302814429 0.00002
NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys) rs727504863 0.00002
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) rs200286254 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg) rs770330002 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg) rs201644472 0.00002
NM_004100.5(EYA4):c.370+16C>T rs376239950 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005612.5(REST):c.1747A>G (p.Thr583Ala) rs752454165 0.00002
NM_005612.5(REST):c.2917A>G (p.Met973Val) rs773073831 0.00002
NM_005612.5(REST):c.416A>G (p.Asp139Gly) rs112115500 0.00002
NM_005982.4(SIX1):c.465G>A (p.Arg155=) rs748903952 0.00002
NM_006005.3(WFS1):c.1378G>A (p.Ala460Thr) rs767998582 0.00002
NM_006005.3(WFS1):c.1550G>A (p.Arg517His) rs150394063 0.00002
NM_006005.3(WFS1):c.1900A>C (p.Lys634Gln) rs140213376 0.00002
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter) rs772357412 0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 0.00002
NM_006005.3(WFS1):c.2125G>A (p.Val709Met) rs761216725 0.00002
NM_006005.3(WFS1):c.2212G>A (p.Ala738Thr) rs563972671 0.00002
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met) rs199769524 0.00002
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter) rs201239579 0.00002
NM_006005.3(WFS1):c.2267G>A (p.Arg756His) rs982418213 0.00002
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys) rs200528166 0.00002
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys) rs367547063 0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_006005.3(WFS1):c.304G>A (p.Ala102Thr) rs1252423572 0.00002
NM_006005.3(WFS1):c.401C>T (p.Ala134Val) rs746010848 0.00002
NM_006005.3(WFS1):c.727G>A (p.Ala243Thr) rs760226129 0.00002
NM_006005.3(WFS1):c.807A>T (p.Glu269Asp) rs773140080 0.00002
NM_006005.3(WFS1):c.979C>T (p.Leu327Phe) rs71537678 0.00002
NM_080680.3(COL11A2):c.283G>C (p.Gly95Arg) rs139813387 0.00002
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_138691.3(TMC1):c.674C>T (p.Pro225Leu) rs370088722 0.00002
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) rs111033219 0.00001
NM_000260.4(MYO7A):c.1563del (p.Asp521fs) rs1064794012 0.00001
NM_000260.4(MYO7A):c.1690+3A>G rs1555070313 0.00001
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) rs968552859 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg) rs572300575 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) rs782174733 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp) rs376796087 0.00001
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro) rs1241891051 0.00001
NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter) rs1334199217 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.285+1G>C rs782661097 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter) rs548381313 0.00001
NM_000260.4(MYO7A):c.3504-1G>C rs1555090171 0.00001
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) rs782694195 0.00001
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442 0.00001
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp) rs371374104 0.00001
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110 0.00001
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) rs769771981 0.00001
NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr) rs375066152 0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275 0.00001
NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu) rs746296177 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) rs373886432 0.00001
NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp) rs1010166278 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter) rs776930594 0.00001
NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr) rs1555062954 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) rs1383147250 0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285 0.00001
NM_001046.3(SLC12A2):c.2210T>A (p.Leu737Gln) rs376802988 0.00001
NM_001046.3(SLC12A2):c.2293C>G (p.Leu765Val) rs548545596 0.00001
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=) rs886054592 0.00001
NM_001145809.2(MYH14):c.3401A>G (p.Gln1134Arg) rs934260773 0.00001
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp) rs758424787 0.00001
NM_001243133.2(NLRP3):c.1158T>A (p.Asp386Glu) rs779193213 0.00001
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys) rs201384608 0.00001
NM_001243133.2(NLRP3):c.1484C>T (p.Ala495Val) rs180177474 0.00001
NM_001243133.2(NLRP3):c.1643G>A (p.Arg548His) rs200258061 0.00001
NM_001243133.2(NLRP3):c.1650G>A (p.Lys550=) rs748768461 0.00001
NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val) rs1366541794 0.00001
NM_001243133.2(NLRP3):c.1839A>T (p.Lys613Asn) rs876660973 0.00001
NM_001243133.2(NLRP3):c.1921G>A (p.Val641Met) rs1662794808 0.00001
NM_001243133.2(NLRP3):c.2058C>T (p.Pro686=) rs765198709 0.00001
NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn) rs781561828 0.00001
NM_001243133.2(NLRP3):c.2244C>G (p.Asp748Glu) rs780246397 0.00001
NM_001243133.2(NLRP3):c.2392C>A (p.Leu798Met) rs756392002 0.00001
NM_001243133.2(NLRP3):c.2492+13C>T rs199746830 0.00001
NM_001243133.2(NLRP3):c.2530G>T (p.Asp844Tyr) rs1409419107 0.00001
NM_001243133.2(NLRP3):c.2571A>G (p.Arg857=) rs1248156475 0.00001
NM_001243133.2(NLRP3):c.2680C>T (p.Leu894Phe) rs1157282902 0.00001
NM_001243133.2(NLRP3):c.2827G>C (p.Val943Leu) rs199878892 0.00001
NM_001243133.2(NLRP3):c.2912A>C (p.Lys971Thr) rs1247641472 0.00001
NM_001243133.2(NLRP3):c.3094C>A (p.Pro1032Thr) rs1298618908 0.00001
NM_001243133.2(NLRP3):c.369G>A (p.Ser123=) rs750104265 0.00001
NM_001243133.2(NLRP3):c.508C>T (p.Arg170Cys) rs747885829 0.00001
NM_001243133.2(NLRP3):c.673G>T (p.Ala225Ser) rs1193199652 0.00001
NM_001243133.2(NLRP3):c.717G>T (p.Leu239Phe) rs770294045 0.00001
NM_001376256.1(CRYM):c.10G>T (p.Val4Leu) rs766675674 0.00001
NM_001614.5(ACTG1):c.138C>T (p.Gly46=) rs374907377 0.00001
NM_001614.5(ACTG1):c.294G>A (p.Pro98=) rs1157976912 0.00001
NM_001614.5(ACTG1):c.642G>A (p.Glu214=) rs782187026 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237 0.00001
NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=) rs372122122 0.00001
NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile) rs780411112 0.00001
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg) rs925433052 0.00001
NM_002473.6(MYH9):c.1188G>A (p.Val396=) rs147972823 0.00001
NM_002473.6(MYH9):c.1518C>T (p.Leu506=) rs745614690 0.00001
NM_002473.6(MYH9):c.154G>A (p.Glu52Lys) rs779218645 0.00001
NM_002473.6(MYH9):c.158A>C (p.Glu53Ala) rs546497514 0.00001
NM_002473.6(MYH9):c.2230-9C>T rs1221817075 0.00001
NM_002473.6(MYH9):c.2263C>T (p.Arg755Cys) rs768721880 0.00001
NM_002473.6(MYH9):c.2500-9C>T rs1364784964 0.00001
NM_002473.6(MYH9):c.2618C>T (p.Thr873Met) rs763516009 0.00001
NM_002473.6(MYH9):c.278A>G (p.Asn93Ser) rs1359996610 0.00001
NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr) rs1423642805 0.00001
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu) rs368797590 0.00001
NM_002473.6(MYH9):c.3452C>T (p.Thr1151Met) rs375081687 0.00001
NM_002473.6(MYH9):c.3605C>T (p.Ala1202Val) rs772915368 0.00001
NM_002473.6(MYH9):c.4128T>C (p.Ser1376=) rs199506931 0.00001
NM_002473.6(MYH9):c.4298G>A (p.Arg1433His) rs530533580 0.00001
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr) rs373912645 0.00001
NM_002473.6(MYH9):c.4391G>A (p.Arg1464His) rs199968414 0.00001
NM_002473.6(MYH9):c.4448G>A (p.Arg1483Gln) rs727503285 0.00001
NM_002473.6(MYH9):c.4741G>A (p.Glu1581Lys) rs566790184 0.00001
NM_002473.6(MYH9):c.4883C>T (p.Ser1628Leu) rs750410479 0.00001
NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met) rs727504669 0.00001
NM_002473.6(MYH9):c.4955G>A (p.Arg1652His) rs779135945 0.00001
NM_002473.6(MYH9):c.5177G>A (p.Arg1726His) rs777701033 0.00001
NM_002473.6(MYH9):c.5235G>A (p.Thr1745=) rs727504684 0.00001
NM_002473.6(MYH9):c.5564G>A (p.Arg1855Gln) rs746568745 0.00001
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr) rs748946434 0.00001
NM_002473.6(MYH9):c.720C>T (p.Arg240=) rs556214390 0.00001
NM_002473.6(MYH9):c.868+14C>T rs769515479 0.00001
NM_002473.6(MYH9):c.888G>A (p.Pro296=) rs559813309 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004004.6(GJB2):c.474C>T (p.Tyr158=) rs375759781 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004004.6(GJB2):c.512C>T (p.Ala171Val) rs1555341850 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004100.5(EYA4):c.*1551G>T rs895041455 0.00001
NM_004100.5(EYA4):c.*1943C>T rs150567885 0.00001
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) rs1168354526 0.00001
NM_004100.5(EYA4):c.1494C>T (p.Asn498=) rs748934740 0.00001
NM_004100.5(EYA4):c.1822G>C (p.Glu608Gln) rs1173508611 0.00001
NM_004100.5(EYA4):c.1840-16T>G rs1039495587 0.00001
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp) rs200042576 0.00001
NM_004100.5(EYA4):c.83+5A>G rs1060502995 0.00001
NM_004999.4(MYO6):c.2837G>A (p.Arg946His) rs781754117 0.00001
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=) rs369559394 0.00001
NM_005422.4(TECTA):c.1699G>A (p.Ala567Thr) rs727503457 0.00001
NM_005612.5(REST):c.2068C>T (p.Pro690Ser) rs1169375776 0.00001
NM_005612.5(REST):c.2780A>G (p.Asn927Ser) rs557500462 0.00001
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile) rs781575919 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006005.3(WFS1):c.1100A>G (p.Asp367Gly) rs771498413 0.00001
NM_006005.3(WFS1):c.1179C>T (p.Ala393=) rs746433560 0.00001
NM_006005.3(WFS1):c.1211C>T (p.Pro404Leu) rs935411471 0.00001
NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile) rs775039116 0.00001
NM_006005.3(WFS1):c.1365G>A (p.Thr455=) rs769749907 0.00001
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750 0.00001
NM_006005.3(WFS1):c.1501G>A (p.Val501Ile) rs1343901456 0.00001
NM_006005.3(WFS1):c.1506C>T (p.Ser502=) rs773684789 0.00001
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) rs28937892 0.00001
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val) rs201557396 0.00001
NM_006005.3(WFS1):c.1560G>A (p.Gln520=) rs776513501 0.00001
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter) rs1335076773 0.00001
NM_006005.3(WFS1):c.1649A>C (p.Glu550Ala) rs760990181 0.00001
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr) rs876658118 0.00001
NM_006005.3(WFS1):c.19C>T (p.Pro7Ser) rs1432704019 0.00001
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) rs1323852277 0.00001
NM_006005.3(WFS1):c.2191A>G (p.Met731Val) rs144010362 0.00001
NM_006005.3(WFS1):c.2192T>C (p.Met731Thr) rs146418094 0.00001
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) rs71526458 0.00001
NM_006005.3(WFS1):c.2286G>A (p.Lys762=) rs200663929 0.00001
NM_006005.3(WFS1):c.2381A>G (p.Glu794Gly) rs752023481 0.00001
NM_006005.3(WFS1):c.2388C>T (p.Asp796=) rs71532868 0.00001
NM_006005.3(WFS1):c.2407G>A (p.Val803Met) rs745988826 0.00001
NM_006005.3(WFS1):c.2437G>A (p.Val813Met) rs756972444 0.00001
NM_006005.3(WFS1):c.2495G>A (p.Arg832His) rs141816346 0.00001
NM_006005.3(WFS1):c.2513C>T (p.Pro838Leu) rs374704428 0.00001
NM_006005.3(WFS1):c.33C>A (p.Ser11=) rs1185590827 0.00001
NM_006005.3(WFS1):c.395T>G (p.Leu132Arg) rs763992743 0.00001
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) rs372249044 0.00001
NM_006005.3(WFS1):c.440G>A (p.Arg147Gln) rs887901169 0.00001
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys) rs567563179 0.00001
NM_006005.3(WFS1):c.527T>C (p.Val176Ala) rs772915458 0.00001
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) rs776685250 0.00001
NM_006005.3(WFS1):c.593C>T (p.Ala198Val) rs142687752 0.00001
NM_006005.3(WFS1):c.631+5G>A rs863224261 0.00001
NM_006005.3(WFS1):c.641C>T (p.Ala214Val) rs750861249 0.00001
NM_006005.3(WFS1):c.686T>C (p.Met229Thr) rs774525063 0.00001
NM_006005.3(WFS1):c.709G>A (p.Glu237Lys) rs763480468 0.00001
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) rs727503747 0.00001
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter) rs747658523 0.00001
NM_006005.3(WFS1):c.77G>A (p.Arg26Gln) rs551867477 0.00001
NM_006005.3(WFS1):c.816C>T (p.Asp272=) rs762774307 0.00001
NM_006005.3(WFS1):c.830A>G (p.Lys277Arg) rs753193877 0.00001
NM_006005.3(WFS1):c.862G>A (p.Val288Met) rs71537685 0.00001
NM_006005.3(WFS1):c.920C>T (p.Ala307Val) rs371645500 0.00001
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe) rs564413149 0.00001
NM_080680.3(COL11A2):c.1399G>A (p.Val467Met) rs755731113 0.00001
NM_080680.3(COL11A2):c.182G>A (p.Arg61Gln) rs761464756 0.00001
NM_080680.3(COL11A2):c.1999G>A (p.Gly667Ser) rs1322629595 0.00001
NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg) rs768569721 0.00001
NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn) rs1205676646 0.00001
NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter) rs121912951 0.00001
NM_080680.3(COL11A2):c.939+1G>A rs750173113 0.00001
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) rs760532554 0.00001
NM_138691.3(TMC1):c.1810C>T (p.Arg604Ter) rs777777359 0.00001
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr) rs747645756 0.00001
NM_138691.3(TMC1):c.884+2dup rs876658020 0.00001
NC_000011.10:g.77198597_77198604delinsCA rs111033259
NM_000260.4(MYO7A):c.1005_1012delinsTGCCAACAGCCCCTTGCTGCCTCCCCTGATGCTGTGCCCC (p.Arg336fs)
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter) rs782639389
NM_000260.4(MYO7A):c.1080+1G>C
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) rs1297886521
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.132+6T>C rs781852295
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.178dup (p.His60fs)
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.1955G>A (p.Cys652Tyr)
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.2094+2T>C
NM_000260.4(MYO7A):c.2187+2_2187+8del
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys) rs2135473615
NM_000260.4(MYO7A):c.2569C>T (p.Gln857Ter) rs1555082994
NM_000260.4(MYO7A):c.285+1G>T
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) rs782281371
NM_000260.4(MYO7A):c.2926_2938del (p.Glu976fs)
NM_000260.4(MYO7A):c.3109-2A>G
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) rs116892396
NM_000260.4(MYO7A):c.3286-2A>C
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs) rs1064793208
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000260.4(MYO7A):c.3503+2T>C
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.3599del (p.Gly1200fs)
NM_000260.4(MYO7A):c.3656del (p.Gly1219fs)
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) rs397516304
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3829del (p.Ala1277fs) rs2135562294
NM_000260.4(MYO7A):c.3880_3881del (p.Lys1294fs)
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val) rs2135575353
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del) rs1437625274
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) rs1555096223
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter) rs1952434877
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn) rs766461538
NM_000260.4(MYO7A):c.5127del (p.Lys1710fs)
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) rs111033477
NM_000260.4(MYO7A):c.5248del (p.Glu1750fs)
NM_000260.4(MYO7A):c.5260C>T (p.Gln1754Ter)
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter) rs778009227
NM_000260.4(MYO7A):c.5785C>T (p.Gln1929Ter) rs1957512851
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5856+1G>A
NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter)
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.604del (p.Ala202fs)
NM_000260.4(MYO7A):c.6079_6081del (p.His2027del) rs1957839812
NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter) rs1957844295
NM_000260.4(MYO7A):c.6228_6232del (p.Asp2076fs) rs2135785861
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) rs759614902
NM_000260.4(MYO7A):c.721C>G (p.Arg241Gly)
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.75_76del (p.Ala26fs)
NM_000260.4(MYO7A):c.846dup (p.Met283fs)
NM_000260.4(MYO7A):c.947G>A (p.Trp316Ter)
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000260.4(MYO7A):c.979_985dup (p.Gly329fs)
NM_000899.5(KITLG):c.130-11dup rs11428619
NM_001039213.4(CEACAM16):c.95_96delinsTT (p.Ser32Ile) rs1555771695
NM_001042517.2(DIAPH3):c.2567A>G (p.Asn856Ser)
NM_001046.3(SLC12A2):c.1127A>G (p.Asn376Ser) rs116621105
NM_001046.3(SLC12A2):c.2107+11A>G rs189093520
NM_001046.3(SLC12A2):c.2848G>A (p.Val950Met) rs760024899
NM_001046.3(SLC12A2):c.288GGC[10] (p.Ala105_Ala107dup) rs746633185
NM_001046.3(SLC12A2):c.288GGC[11] (p.Ala104_Ala107dup) rs746633185
NM_001046.3(SLC12A2):c.3622C>G (p.Leu1208Val) rs761150347
NM_001046.3(SLC12A2):c.562GGC[6] (p.Gly192dup) rs751759733
NM_001046.3(SLC12A2):c.881G>A (p.Arg294His) rs1484832467
NM_001110219.3(GJB6):c.*227dup rs368264636
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) rs571454176
NM_001127453.2(GSDME):c.314dup (p.Ser106fs) rs755613828
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His) rs567922009
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001243133.2(NLRP3):c.1040C>G (p.Thr347Ser)
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
NM_001243133.2(NLRP3):c.1090C>T (p.Arg364Trp) rs994458759
NM_001243133.2(NLRP3):c.1091G>A (p.Arg364Gln)
NM_001243133.2(NLRP3):c.1153T>G (p.Ser385Ala) rs199680838
NM_001243133.2(NLRP3):c.1200C>A (p.Asn400Lys)
NM_001243133.2(NLRP3):c.1204G>A (p.Val402Ile)
NM_001243133.2(NLRP3):c.1237T>G (p.Cys413Gly)
NM_001243133.2(NLRP3):c.1276A>G (p.Ser426Gly)
NM_001243133.2(NLRP3):c.127C>T (p.Gln43Ter) rs1558185400
NM_001243133.2(NLRP3):c.1313C>G (p.Thr438Ser)
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.1362G>T (p.Gly454=)
NM_001243133.2(NLRP3):c.1374C>T (p.His458=) rs180177481
NM_001243133.2(NLRP3):c.1382G>A (p.Cys461Tyr) rs764806756
NM_001243133.2(NLRP3):c.1437A>T (p.Lys479Asn)
NM_001243133.2(NLRP3):c.1462A>T (p.Arg488Trp)
NM_001243133.2(NLRP3):c.1524G>C (p.Lys508Asn)
NM_001243133.2(NLRP3):c.1535G>A (p.Cys512Tyr)
NM_001243133.2(NLRP3):c.1536C>T (p.Cys512=)
NM_001243133.2(NLRP3):c.160A>G (p.Thr54Ala)
NM_001243133.2(NLRP3):c.1654C>G (p.Pro552Ala)
NM_001243133.2(NLRP3):c.172G>A (p.Asp58Asn) rs1131691891
NM_001243133.2(NLRP3):c.1745T>A (p.Val582Glu)
NM_001243133.2(NLRP3):c.185A>T (p.Glu62Val)
NM_001243133.2(NLRP3):c.1933A>G (p.Met645Val)
NM_001243133.2(NLRP3):c.195G>A (p.Ala65=) rs201205620
NM_001243133.2(NLRP3):c.1970C>A (p.Thr657Asn) rs201875324
NM_001243133.2(NLRP3):c.2012G>C (p.Cys671Ser) rs199885115
NM_001243133.2(NLRP3):c.2052C>A (p.Asn684Lys)
NM_001243133.2(NLRP3):c.2060A>G (p.Lys687Arg)
NM_001243133.2(NLRP3):c.208G>T (p.Val70Leu)
NM_001243133.2(NLRP3):c.2090G>A (p.Arg697Gln)
NM_001243133.2(NLRP3):c.2103G>A (p.Met701Ile)
NM_001243133.2(NLRP3):c.2172T>A (p.Thr724=) rs201102829
NM_001243133.2(NLRP3):c.2185C>A (p.Arg729=) rs148590318
NM_001243133.2(NLRP3):c.2185C>T (p.Arg729Trp)
NM_001243133.2(NLRP3):c.2258A>T (p.Asp753Val)
NM_001243133.2(NLRP3):c.2299G>A (p.Gly767Ser) rs866534904
NM_001243133.2(NLRP3):c.2321+1G>A
NM_001243133.2(NLRP3):c.2322-8G>T
NM_001243133.2(NLRP3):c.2330G>A (p.Arg777His) rs1663599540
NM_001243133.2(NLRP3):c.2342C>T (p.Ser781Leu) rs201969526
NM_001243133.2(NLRP3):c.2387A>G (p.Gln796Arg) rs2103162880
NM_001243133.2(NLRP3):c.2493-6T>C
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) rs2103174031
NM_001243133.2(NLRP3):c.2684C>T (p.Thr895Met)
NM_001243133.2(NLRP3):c.2711C>T (p.Ser904Leu)
NM_001243133.2(NLRP3):c.2752C>T (p.Arg918Ter)
NM_001243133.2(NLRP3):c.2762C>T (p.Thr921Ile)
NM_001243133.2(NLRP3):c.2769A>T (p.Gly923=)
NM_001243133.2(NLRP3):c.2773A>C (p.Lys925Gln)
NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn) rs876660975
NM_001243133.2(NLRP3):c.2798G>T (p.Gly933Val)
NM_001243133.2(NLRP3):c.2835A>T (p.Glu945Asp)
NM_001243133.2(NLRP3):c.2860C>T (p.His954Tyr)
NM_001243133.2(NLRP3):c.2908C>T (p.Arg970Ter) rs1450171900
NM_001243133.2(NLRP3):c.3005+4A>G
NM_001243133.2(NLRP3):c.3013G>A (p.Glu1005Lys)
NM_001243133.2(NLRP3):c.3067A>C (p.Lys1023Gln)
NM_001243133.2(NLRP3):c.350G>A (p.Gly117Asp)
NM_001243133.2(NLRP3):c.398-11C>T
NM_001243133.2(NLRP3):c.398-5C>G
NM_001243133.2(NLRP3):c.404G>C (p.Arg135Pro)
NM_001243133.2(NLRP3):c.424G>A (p.Val142Met)
NM_001243133.2(NLRP3):c.494G>A (p.Arg165His)
NM_001243133.2(NLRP3):c.533A>T (p.Gln178Leu)
NM_001243133.2(NLRP3):c.564C>A (p.Ile188=) rs147631017
NM_001243133.2(NLRP3):c.567C>T (p.Gly189=)
NM_001243133.2(NLRP3):c.578C>A (p.Thr193Lys)
NM_001243133.2(NLRP3):c.620T>C (p.Phe207Ser)
NM_001243133.2(NLRP3):c.635A>G (p.Glu212Gly)
NM_001243133.2(NLRP3):c.726G>T (p.Ala242=) rs3806268
NM_001243133.2(NLRP3):c.781G>A (p.Glu261Lys)
NM_001243133.2(NLRP3):c.800A>G (p.Gln267Arg)
NM_001243133.2(NLRP3):c.814del (p.Asp272fs)
NM_001243133.2(NLRP3):c.838G>A (p.Asp280Asn)
NM_001243133.2(NLRP3):c.880A>G (p.Arg294Gly)
NM_001243133.2(NLRP3):c.901G>T (p.Gly301Cys) rs201504984
NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys) rs180177470
NM_001243133.2(NLRP3):c.949T>G (p.Cys317Gly)
NM_001243133.2(NLRP3):c.968C>T (p.Ala323Val) rs1662708283
NM_001243133.2(NLRP3):c.973C>G (p.Arg325Gly)
NM_001243133.2(NLRP3):c.985C>G (p.Leu329Val)
NM_001243133.2(NLRP3):c.995G>T (p.Ser332Ile)
NM_001371333.1(DIABLO):c.51-318dup rs5801478
NM_001375524.1(TRRAP):c.2237T>G (p.Leu746Arg)
NM_001375524.1(TRRAP):c.2857G>A (p.Ala953Thr)
NM_001375524.1(TRRAP):c.9500G>A (p.Arg3167Gln) rs1245057200
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val) rs1793524609
NM_001378457.1(DMXL2):c.5393G>A (p.Arg1798His)
NM_001378457.1(DMXL2):c.6035A>C (p.Gln2012Pro)
NM_001378457.1(DMXL2):c.6833+11del rs11291027
NM_001378457.1(DMXL2):c.7809-6del rs746074258
NM_001614.5(ACTG1):c.-55G>A rs7503278
NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu) rs1192977984
NM_001614.5(ACTG1):c.1050C>T (p.Ser350=)
NM_001614.5(ACTG1):c.123G>A (p.Gln41=)
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.177G>C (p.Gln59His)
NM_001614.5(ACTG1):c.242A>G (p.Asp81Gly)
NM_001614.5(ACTG1):c.244A>G (p.Met82Val)
NM_001614.5(ACTG1):c.27C>G (p.Val9=)
NM_001614.5(ACTG1):c.364-12G>T
NM_001614.5(ACTG1):c.364-1G>A
NM_001614.5(ACTG1):c.515C>T (p.Pro172Leu)
NM_001614.5(ACTG1):c.574A>G (p.Ile192Val)
NM_001614.5(ACTG1):c.630C>T (p.Arg210=)
NM_001614.5(ACTG1):c.691G>A (p.Ala231Thr)
NM_001614.5(ACTG1):c.692C>T (p.Ala231Val)
NM_001614.5(ACTG1):c.704_706del (p.Ser235del) rs782541695
NM_001614.5(ACTG1):c.708G>A (p.Leu236=)
NM_001614.5(ACTG1):c.76G>T (p.Ala26Ser)
NM_001614.5(ACTG1):c.781C>G (p.Leu261Val)
NM_001614.5(ACTG1):c.787C>T (p.Gln263Ter)
NM_001614.5(ACTG1):c.883G>A (p.Ala295Thr)
NM_001614.5(ACTG1):c.889A>G (p.Thr297Ala)
NM_001614.5(ACTG1):c.918_921delinsTCCA (p.Tyr306_Pro307=)
NM_001614.5(ACTG1):c.955G>A (p.Ala319Thr)
NM_001614.5(ACTG1):c.958C>T (p.Leu320=)
NM_001614.5(ACTG1):c.987C>T (p.Ile329=)
NM_001854.4(COL11A1):c.2203C>G (p.Pro735Ala)
NM_001854.4(COL11A1):c.2241+5G>T rs2101800665
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.2503-3T>C
NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu) rs17127270
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter) rs755987732
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys) rs763199410
NM_001854.4(COL11A1):c.5075A>G (p.Asn1692Ser)
NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del) rs774335092
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser) rs201557468
NM_002160.4(TNC):c.6099C>T (p.Arg2033=) rs58547879
NM_002473.6(MYH9):c.1056C>T (p.Ile352=) rs727504861
NM_002473.6(MYH9):c.1099G>A (p.Asp367Asn)
NM_002473.6(MYH9):c.1136G>A (p.Gly379Asp)
NM_002473.6(MYH9):c.1211C>T (p.Ala404Val)
NM_002473.6(MYH9):c.1253C>T (p.Ala418Val)
NM_002473.6(MYH9):c.1321A>G (p.Lys441Glu)
NM_002473.6(MYH9):c.1333G>T (p.Ala445Ser)
NM_002473.6(MYH9):c.1349T>C (p.Ile450Thr)
NM_002473.6(MYH9):c.1482C>T (p.Arg494=)
NM_002473.6(MYH9):c.153C>T (p.Gly51=)
NM_002473.6(MYH9):c.160G>C (p.Ala54Pro)
NM_002473.6(MYH9):c.1615G>C (p.Asp539His)
NM_002473.6(MYH9):c.1632G>T (p.Glu544Asp)
NM_002473.6(MYH9):c.1636G>A (p.Val546Met)
NM_002473.6(MYH9):c.1786A>G (p.Ile596Val)
NM_002473.6(MYH9):c.1798C>T (p.Leu600Phe)
NM_002473.6(MYH9):c.181A>T (p.Asn61Tyr)
NM_002473.6(MYH9):c.1826C>T (p.Ser609Leu)
NM_002473.6(MYH9):c.1843+12G>C rs150539764
NM_002473.6(MYH9):c.1843+5G>A
NM_002473.6(MYH9):c.1844T>C (p.Val615Ala)
NM_002473.6(MYH9):c.1850G>A (p.Arg617His)
NM_002473.6(MYH9):c.1991C>T (p.Thr664Met)
NM_002473.6(MYH9):c.19G>A (p.Asp7Asn)
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) rs762745890
NM_002473.6(MYH9):c.2037+14G>T rs727504713
NM_002473.6(MYH9):c.2037+17G>A
NM_002473.6(MYH9):c.2037+3del
NM_002473.6(MYH9):c.2062G>A (p.Val688Met)
NM_002473.6(MYH9):c.2078G>A (p.Arg693His)
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.6(MYH9):c.2137G>A (p.Val713Ile)
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002473.6(MYH9):c.2164G>C (p.Glu722Gln)
NM_002473.6(MYH9):c.2189C>T (p.Pro730Leu)
NM_002473.6(MYH9):c.2267T>C (p.Ile756Thr)
NM_002473.6(MYH9):c.2296G>A (p.Gly766Ser) rs757850500
NM_002473.6(MYH9):c.2321A>G (p.Glu774Gly)
NM_002473.6(MYH9):c.2323C>T (p.Arg775Ter)
NM_002473.6(MYH9):c.2339C>G (p.Thr780Ser)
NM_002473.6(MYH9):c.2383G>T (p.Ala795Ser)
NM_002473.6(MYH9):c.2398_2400delinsTTT (p.Ala800Phe)
NM_002473.6(MYH9):c.2427G>A (p.Met809Ile)
NM_002473.6(MYH9):c.2441G>A (p.Arg814Gln)
NM_002473.6(MYH9):c.2453C>T (p.Ala818Val)
NM_002473.6(MYH9):c.2458C>T (p.Leu820=)
NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu) rs1603483077
NM_002473.6(MYH9):c.250G>C (p.Glu84Gln)
NM_002473.6(MYH9):c.255C>T (p.Asp85=) rs569718443
NM_002473.6(MYH9):c.2659G>A (p.Glu887Lys)
NM_002473.6(MYH9):c.2692G>A (p.Glu898Lys)
NM_002473.6(MYH9):c.2771T>C (p.Val924Ala)
NM_002473.6(MYH9):c.2774A>G (p.Glu925Gly)
NM_002473.6(MYH9):c.2796G>A (p.Gln932=)
NM_002473.6(MYH9):c.2875C>T (p.Arg959Trp)
NM_002473.6(MYH9):c.2908G>A (p.Glu970Lys)
NM_002473.6(MYH9):c.3020A>G (p.Asn1007Ser)
NM_002473.6(MYH9):c.3100G>A (p.Glu1034Lys)
NM_002473.6(MYH9):c.3101-12C>T
NM_002473.6(MYH9):c.3109C>T (p.Arg1037Cys)
NM_002473.6(MYH9):c.3110G>T (p.Arg1037Leu)
NM_002473.6(MYH9):c.3206C>T (p.Ala1069Val)
NM_002473.6(MYH9):c.3238A>G (p.Lys1080Glu)
NM_002473.6(MYH9):c.3262G>A (p.Ala1088Thr)
NM_002473.6(MYH9):c.3272+3G>T rs1238385506
NM_002473.6(MYH9):c.3319C>T (p.Arg1107Trp)
NM_002473.6(MYH9):c.3436A>G (p.Thr1146Ala)
NM_002473.6(MYH9):c.3485+3G>T
NM_002473.6(MYH9):c.3486-16G>A
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.3565G>C (p.Glu1189Gln)
NM_002473.6(MYH9):c.3586C>A (p.Gln1196Lys)
NM_002473.6(MYH9):c.3586C>G (p.Gln1196Glu)
NM_002473.6(MYH9):c.3619C>G (p.Gln1207Glu)
NM_002473.6(MYH9):c.3673G>A (p.Glu1225Lys) rs770864107
NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln) rs200697030
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu) rs200697030
NM_002473.6(MYH9):c.3696G>C (p.Glu1232Asp)
NM_002473.6(MYH9):c.3728C>T (p.Ser1243Leu) rs959272684
NM_002473.6(MYH9):c.3755C>T (p.Ala1252Val)
NM_002473.6(MYH9):c.3787G>A (p.Glu1263Lys)
NM_002473.6(MYH9):c.3799G>A (p.Val1267Met)
NM_002473.6(MYH9):c.3803G>A (p.Arg1268His)
NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn) rs147031322
NM_002473.6(MYH9):c.3821A>G (p.Lys1274Arg)
NM_002473.6(MYH9):c.3853G>A (p.Val1285Met)
NM_002473.6(MYH9):c.385A>G (p.Ile129Val)
NM_002473.6(MYH9):c.3877G>A (p.Asp1293Asn) rs778278736
NM_002473.6(MYH9):c.3880A>G (p.Ser1294Gly)
NM_002473.6(MYH9):c.3887C>A (p.Ser1296Tyr)
NM_002473.6(MYH9):c.3906C>G (p.Asp1302Glu)
NM_002473.6(MYH9):c.3942+5G>A rs775695035
NM_002473.6(MYH9):c.3946C>G (p.Leu1316Val)
NM_002473.6(MYH9):c.3952C>A (p.Gln1318Lys)
NM_002473.6(MYH9):c.4055A>G (p.Lys1352Arg)
NM_002473.6(MYH9):c.4119G>A (p.Met1373Ile)
NM_002473.6(MYH9):c.4132G>T (p.Gly1378Trp)
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu) rs727504829
NM_002473.6(MYH9):c.423G>C (p.Lys141Asn)
NM_002473.6(MYH9):c.4267G>T (p.Asp1423Tyr)
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.4344G>A (p.Gln1448=)
NM_002473.6(MYH9):c.4406C>T (p.Ala1469Val)
NM_002473.6(MYH9):c.4415G>A (p.Arg1472Gln)
NM_002473.6(MYH9):c.4439C>G (p.Ser1480Trp)
NM_002473.6(MYH9):c.4480G>A (p.Glu1494Lys)
NM_002473.6(MYH9):c.4507C>T (p.Arg1503Cys)
NM_002473.6(MYH9):c.4543G>A (p.Asp1515Asn)
NM_002473.6(MYH9):c.4546G>A (p.Val1516Met) rs727503284
NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu) rs727503284
NM_002473.6(MYH9):c.4574A>G (p.Lys1525Arg)
NM_002473.6(MYH9):c.4580A>G (p.Lys1527Arg)
NM_002473.6(MYH9):c.4600G>A (p.Val1534Met)
NM_002473.6(MYH9):c.4616C>T (p.Thr1539Met)
NM_002473.6(MYH9):c.4652C>T (p.Thr1551Ile)
NM_002473.6(MYH9):c.4654G>A (p.Glu1552Lys) rs886057479
NM_002473.6(MYH9):c.4682A>G (p.Asn1561Ser)
NM_002473.6(MYH9):c.4711C>T (p.Arg1571Trp)
NM_002473.6(MYH9):c.4745A>G (p.Glu1582Gly)
NM_002473.6(MYH9):c.4792C>A (p.Leu1598Met) rs1163205030
NM_002473.6(MYH9):c.4806G>C (p.Arg1602Ser)
NM_002473.6(MYH9):c.4835G>A (p.Arg1612Gln)
NM_002473.6(MYH9):c.4848G>T (p.Glu1616Asp)
NM_002473.6(MYH9):c.4853A>T (p.Asp1618Val)
NM_002473.6(MYH9):c.4871C>T (p.Ala1624Val)
NM_002473.6(MYH9):c.4932+12C>T
NM_002473.6(MYH9):c.493C>T (p.Arg165Ter)
NM_002473.6(MYH9):c.4948T>C (p.Cys1650Arg)
NM_002473.6(MYH9):c.4957G>C (p.Glu1653Gln)
NM_002473.6(MYH9):c.4959G>C (p.Glu1653Asp) rs1035118799
NM_002473.6(MYH9):c.4964A>G (p.Asp1655Gly)
NM_002473.6(MYH9):c.5000A>G (p.Gln1667Arg)
NM_002473.6(MYH9):c.5037G>C (p.Glu1679Asp)
NM_002473.6(MYH9):c.5075C>T (p.Ala1692Val)
NM_002473.6(MYH9):c.5080C>T (p.Arg1694Cys)
NM_002473.6(MYH9):c.5174_5175delinsAA (p.Arg1725Gln)
NM_002473.6(MYH9):c.519-4_519-3insA
NM_002473.6(MYH9):c.5248G>A (p.Asp1750Asn)
NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp) rs770433607
NM_002473.6(MYH9):c.5275-10del rs552643559
NM_002473.6(MYH9):c.5275A>G (p.Ile1759Val)
NM_002473.6(MYH9):c.5278G>A (p.Asp1760Asn)
NM_002473.6(MYH9):c.5314C>T (p.His1772Tyr) rs1455355336
NM_002473.6(MYH9):c.5322GAA[1] (p.Lys1775del)
NM_002473.6(MYH9):c.5338C>G (p.Arg1780Gly)
NM_002473.6(MYH9):c.5360A>G (p.Asn1787Ser)
NM_002473.6(MYH9):c.5361C>A (p.Asn1787Lys)
NM_002473.6(MYH9):c.5436C>A (p.Leu1812=)
NM_002473.6(MYH9):c.5437G>C (p.Glu1813Gln)
NM_002473.6(MYH9):c.5484-3C>G
NM_002473.6(MYH9):c.5593-14G>T rs201676960
NM_002473.6(MYH9):c.5603C>T (p.Ala1868Val)
NM_002473.6(MYH9):c.5611C>T (p.Arg1871Cys)
NM_002473.6(MYH9):c.5764A>C (p.Arg1922=) rs1603482692
NM_002473.6(MYH9):c.5765+4A>G
NM_002473.6(MYH9):c.5795G>A (p.Arg1932His)
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_002473.6(MYH9):c.5854G>T (p.Asp1952Tyr)
NM_002473.6(MYH9):c.5854_5855delinsAT (p.Asp1952Ile)
NM_002473.6(MYH9):c.591G>T (p.Ser197=)
NM_002473.6(MYH9):c.59C>T (p.Pro20Leu)
NM_002473.6(MYH9):c.609C>G (p.Asp203Glu)
NM_002473.6(MYH9):c.626G>A (p.Arg209Gln)
NM_002473.6(MYH9):c.659C>T (p.Ala220Val) rs1190062913
NM_002473.6(MYH9):c.785C>G (p.Ser262Cys)
NM_002473.6(MYH9):c.796C>T (p.Arg266Cys)
NM_002473.6(MYH9):c.868+7A>C
NM_002473.6(MYH9):c.869-11A>T
NM_002473.6(MYH9):c.902G>A (p.Arg301His)
NM_002473.6(MYH9):c.934G>A (p.Gly312Arg)
NM_002473.6(MYH9):c.952A>C (p.Met318Leu)
NM_004004.6(GJB2):c.-22-2A>G rs201895089
NM_004004.6(GJB2):c.-23+2T>G
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.122AGG[1] (p.Glu42del) rs1566528901
NM_004004.6(GJB2):c.128T>C (p.Val43Ala)
NM_004004.6(GJB2):c.155_158del (p.Val52fs)
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser) rs2137308512
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.253T>C (p.Ser85Pro)
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.2T>G (p.Met1Arg) rs371086981
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.486_493dup (p.Arg165fs)
NM_004004.6(GJB2):c.498_499dup (p.Val167fs)
NM_004004.6(GJB2):c.516G>A (p.Trp172Ter) rs1302739538
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs) rs886037624
NM_004004.6(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.98T>C (p.Ile33Thr)
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004100.5(EYA4):c.*1532G>A rs776008831
NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn) rs1321644184
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu) rs1394230343
NM_004100.5(EYA4):c.458C>G (p.Ser153Cys) rs1554261941
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu) rs769220102
NM_004100.5(EYA4):c.824C>T (p.Ala275Val) rs748654006
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) rs773095472
NM_004700.4(KCNQ4):c.733G>A (p.Gly245Arg)
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) rs727504459
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu) rs529167250
NM_004999.4(MYO6):c.866_869del (p.Lys289fs) rs749752357
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.3149-25dup rs79558427
NM_005219.5(DIAPH1):c.3149-3del rs79558427
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys) rs1003389476
NM_005219.5(DIAPH1):c.402+5G>A
NM_005422.4(TECTA):c.102del (p.Asn34fs) rs2135050168
NM_005422.4(TECTA):c.3386C>G (p.Thr1129Arg)
NM_005422.4(TECTA):c.5496C>G (p.Ile1832Met) rs544020042
NM_005612.5(REST):c.1255A>G (p.Thr419Ala)
NM_005612.5(REST):c.1298G>A (p.Arg433Gln)
NM_005612.5(REST):c.1309T>A (p.Leu437Met)
NM_005612.5(REST):c.1313C>A (p.Pro438His)
NM_005612.5(REST):c.1435C>T (p.Pro479Ser)
NM_005612.5(REST):c.1436C>T (p.Pro479Leu)
NM_005612.5(REST):c.1690A>C (p.Lys564Gln)
NM_005612.5(REST):c.1919A>T (p.Glu640Val)
NM_005612.5(REST):c.2032G>T (p.Ala678Ser) rs367688230
NM_005612.5(REST):c.2050C>G (p.His684Asp) rs1720935811
NM_005612.5(REST):c.2053A>G (p.Met685Val)
NM_005612.5(REST):c.2063C>G (p.Pro688Arg)
NM_005612.5(REST):c.2076_2120del (p.Thr693_Glu707del)
NM_005612.5(REST):c.2093T>C (p.Val698Ala)
NM_005612.5(REST):c.2259_2306del (p.Met753_Pro768del) rs369803397
NM_005612.5(REST):c.2307A>G (p.Ile769Met) rs766485057
NM_005612.5(REST):c.2741A>G (p.Asn914Ser)
NM_005612.5(REST):c.2743G>C (p.Glu915Gln)
NM_005612.5(REST):c.2753A>G (p.His918Arg)
NM_005612.5(REST):c.2936_2938del (p.Val979del)
NM_005612.5(REST):c.2945G>A (p.Arg982His)
NM_005612.5(REST):c.2992G>A (p.Ala998Thr) rs1720989281
NM_005612.5(REST):c.3107G>T (p.Arg1036Leu)
NM_005612.5(REST):c.3140C>G (p.Ala1047Gly)
NM_005612.5(REST):c.3239A>G (p.Asn1080Ser)
NM_005612.5(REST):c.458G>A (p.Ser153Asn)
NM_005612.5(REST):c.461C>T (p.Ser154Leu)
NM_005612.5(REST):c.608C>G (p.Ser203Cys)
NM_005612.5(REST):c.657C>G (p.Asp219Glu)
NM_005612.5(REST):c.737G>A (p.Arg246Gln)
NM_005909.5(MAP1B):c.5407T>G (p.Ser1803Ala)
NM_005909.5(MAP1B):c.6758A>G (p.Lys2253Arg)
NM_005982.4(SIX1):c.141G>C (p.Glu47Asp)
NM_005982.4(SIX1):c.190C>T (p.Arg64Cys)
NM_005982.4(SIX1):c.250C>T (p.Gln84Ter)
NM_005982.4(SIX1):c.296G>A (p.Arg99His)
NM_005982.4(SIX1):c.321C>T (p.Gly107=)
NM_005982.4(SIX1):c.347C>T (p.Pro116Leu)
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_005982.4(SIX1):c.419G>A (p.Arg140Gln) rs2140241105
NM_005982.4(SIX1):c.421G>A (p.Glu141Lys)
NM_005982.4(SIX1):c.422A>G (p.Glu141Gly)
NM_005982.4(SIX1):c.429C>G (p.Tyr143Ter)
NM_005982.4(SIX1):c.431C>T (p.Ala144Val)
NM_005982.4(SIX1):c.464G>A (p.Arg155Gln)
NM_005982.4(SIX1):c.494C>T (p.Thr165Ile)
NM_005982.4(SIX1):c.577A>G (p.Asn193Asp)
NM_005982.4(SIX1):c.582C>T (p.Asn194=)
NM_005982.4(SIX1):c.597G>A (p.Lys199=)
NM_005982.4(SIX1):c.620A>C (p.Glu207Ala) rs1894944353
NM_005982.4(SIX1):c.638T>C (p.Met213Thr)
NM_005982.4(SIX1):c.671A>G (p.Gln224Arg)
NM_005982.4(SIX1):c.697C>A (p.Leu233Met)
NM_005982.4(SIX1):c.713T>A (p.Met238Lys)
NM_005982.4(SIX1):c.761C>T (p.Ser254Leu)
NM_005982.4(SIX1):c.779T>A (p.Leu260Gln)
NM_005982.4(SIX1):c.811_812del (p.Leu271fs) rs762353418
NM_005982.4(SIX1):c.812T>C (p.Leu271Pro)
NM_005982.4(SIX1):c.815T>C (p.Leu272Pro)
NM_006005.3(WFS1):c.1002C>T (p.Ser334=)
NM_006005.3(WFS1):c.1014C>A (p.Ile338=)
NM_006005.3(WFS1):c.1021_1032del (p.Phe341_Phe344del)
NM_006005.3(WFS1):c.1027_1028delinsGC (p.Phe343Ala)
NM_006005.3(WFS1):c.1038G>A (p.Pro346=) rs143886476
NM_006005.3(WFS1):c.1042G>A (p.Val348Ile)
NM_006005.3(WFS1):c.1045A>G (p.Ile349Val)
NM_006005.3(WFS1):c.1049T>G (p.Phe350Cys)
NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn) rs2109125284
NM_006005.3(WFS1):c.1082C>G (p.Thr361Ser) rs781575919
NM_006005.3(WFS1):c.1088A>G (p.Lys363Arg)
NM_006005.3(WFS1):c.113G>A (p.Ser38Asn) rs775342800
NM_006005.3(WFS1):c.1153G>C (p.Glu385Gln)
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) rs201282601
NM_006005.3(WFS1):c.1171G>A (p.Glu391Lys)
NM_006005.3(WFS1):c.1174C>G (p.Gln392Glu)
NM_006005.3(WFS1):c.1190T>G (p.Phe397Cys)
NM_006005.3(WFS1):c.11A>G (p.Asn4Ser)
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala) rs756869880
NM_006005.3(WFS1):c.122C>A (p.Pro41His)
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1232C>T (p.Ser411Phe) rs961779757
NM_006005.3(WFS1):c.1233T>G (p.Ser411=) rs760897070
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs) rs763677869
NM_006005.3(WFS1):c.1243G>A (p.Val415Ile) rs749886570
NM_006005.3(WFS1):c.1243G>C (p.Val415Leu) rs749886570
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.1249T>A (p.Phe417Ile)
NM_006005.3(WFS1):c.1264G>C (p.Ala422Pro)
NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys) rs147974629
NM_006005.3(WFS1):c.1325C>T (p.Thr442Ile)
NM_006005.3(WFS1):c.1348C>T (p.His450Tyr)
NM_006005.3(WFS1):c.1355_1370del (p.Glu452fs)
NM_006005.3(WFS1):c.1357C>G (p.Pro453Ala)
NM_006005.3(WFS1):c.1357C>T (p.Pro453Ser)
NM_006005.3(WFS1):c.1359C>T (p.Pro453=)
NM_006005.3(WFS1):c.1364C>T (p.Thr455Met) rs139361521
NM_006005.3(WFS1):c.1372G>A (p.Ala458Thr)
NM_006005.3(WFS1):c.1385A>C (p.Glu462Ala)
NM_006005.3(WFS1):c.1399C>G (p.Leu467Val)
NM_006005.3(WFS1):c.1405T>A (p.Ser469Thr)
NM_006005.3(WFS1):c.1420A>C (p.Met474Leu)
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln) rs2109125928
NM_006005.3(WFS1):c.1451T>C (p.Leu484Pro)
NM_006005.3(WFS1):c.1460C>G (p.Thr487Ser) rs142269405
NM_006005.3(WFS1):c.1476T>C (p.Pro492=) rs1730893286
NM_006005.3(WFS1):c.147CCCTGG[3] (p.Gly53_Val54insProGly)
NM_006005.3(WFS1):c.1500C>G (p.Asn500Lys)
NM_006005.3(WFS1):c.1500_1501insAGCGTCCCGTGCCTGTCGGCCACCTGGTCGTCCTCAAT (p.Val501fs)
NM_006005.3(WFS1):c.1508T>G (p.Val503Gly)
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del) rs781262017
NM_006005.3(WFS1):c.1526T>G (p.Val509Gly)
NM_006005.3(WFS1):c.1538_1539dup (p.Leu514fs)
NM_006005.3(WFS1):c.1540C>G (p.Leu514Val)
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) rs777904670
NM_006005.3(WFS1):c.1549del (p.Arg517fs) rs2109126109
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.154C>G (p.Pro52Ala)
NM_006005.3(WFS1):c.154C>T (p.Pro52Ser) rs111773340
NM_006005.3(WFS1):c.1555G>A (p.Ala519Thr)
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter) rs377544135
NM_006005.3(WFS1):c.1580C>G (p.Thr527Ser)
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer) rs1560419631
NM_006005.3(WFS1):c.1628T>G (p.Leu543Arg)
NM_006005.3(WFS1):c.1642C>G (p.Leu548Val)
NM_006005.3(WFS1):c.1645C>A (p.Leu549Met) rs1801211
NM_006005.3(WFS1):c.1646T>C (p.Leu549Pro)
NM_006005.3(WFS1):c.1692C>G (p.Phe564Leu) rs140643985
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.1699_1704del (p.565LF[1])
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) rs372783392
NM_006005.3(WFS1):c.169G>T (p.Ala57Ser) rs372783392
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr) rs1057524887
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu) rs140773453
NM_006005.3(WFS1):c.1744G>A (p.Val582Met) rs377677092
NM_006005.3(WFS1):c.1744G>T (p.Val582Leu)
NM_006005.3(WFS1):c.1756G>A (p.Ala586Thr)
NM_006005.3(WFS1):c.1759C>G (p.Arg587Gly)
NM_006005.3(WFS1):c.1760G>T (p.Arg587Leu)
NM_006005.3(WFS1):c.1764G>T (p.Trp588Cys) rs763559442
NM_006005.3(WFS1):c.1777G>A (p.Glu593Lys)
NM_006005.3(WFS1):c.1778A>C (p.Glu593Ala) rs375440473
NM_006005.3(WFS1):c.1778A>G (p.Glu593Gly)
NM_006005.3(WFS1):c.1789A>G (p.Ile597Val)
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1806G>A (p.Ala602=) rs142295878
NM_006005.3(WFS1):c.1810T>C (p.Cys604Arg)
NM_006005.3(WFS1):c.1819C>G (p.Pro607Ala) rs780471127
NM_006005.3(WFS1):c.181G>A (p.Ala61Thr)
NM_006005.3(WFS1):c.1828T>G (p.Leu610Val)
NM_006005.3(WFS1):c.1831_1832delinsGA (p.Arg611Asp)
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr) rs863224266
NM_006005.3(WFS1):c.1846dup (p.Ala616fs)
NM_006005.3(WFS1):c.1850G>C (p.Ser617Thr)
NM_006005.3(WFS1):c.1852T>C (p.Phe618Leu)
NM_006005.3(WFS1):c.1858G>C (p.Val620Leu)
NM_006005.3(WFS1):c.1865G>T (p.Gly622Val)
NM_006005.3(WFS1):c.1885C>G (p.Arg629Gly)
NM_006005.3(WFS1):c.1886G>T (p.Arg629Leu)
NM_006005.3(WFS1):c.1894A>G (p.Met632Val)
NM_006005.3(WFS1):c.1901A>G (p.Lys634Arg)
NM_006005.3(WFS1):c.1907T>C (p.Ile636Thr)
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met) rs376626985
NM_006005.3(WFS1):c.1928T>C (p.Ile643Thr)
NM_006005.3(WFS1):c.1930G>A (p.Val644Met) rs141570700
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu) rs150465110
NM_006005.3(WFS1):c.1954T>C (p.Tyr652His)
NM_006005.3(WFS1):c.1961C>T (p.Ser654Leu)
NM_006005.3(WFS1):c.1987A>G (p.Thr663Ala)
NM_006005.3(WFS1):c.1990_1991del (p.Leu664fs)
NM_006005.3(WFS1):c.2009G>A (p.Gly670Asp)
NM_006005.3(WFS1):c.2027G>A (p.Arg676His) rs143055296
NM_006005.3(WFS1):c.2029G>T (p.Ala677Ser) rs757027394
NM_006005.3(WFS1):c.2057C>T (p.Thr686Ile)
NM_006005.3(WFS1):c.2061G>C (p.Gln687His) rs760938537
NM_006005.3(WFS1):c.2069G>A (p.Cys690Tyr)
NM_006005.3(WFS1):c.2082G>C (p.Glu694Asp) rs751270928
NM_006005.3(WFS1):c.2083G>A (p.Gly695Ser)
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) rs28937891
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2166G>A (p.Met722Ile) rs758534824
NM_006005.3(WFS1):c.2175C>A (p.Phe725Leu)
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp) rs1560421124
NM_006005.3(WFS1):c.2222C>T (p.Ala741Val) rs770396410
NM_006005.3(WFS1):c.2234G>C (p.Gly745Ala)
NM_006005.3(WFS1):c.2251G>A (p.Glu751Lys) rs147465252
NM_006005.3(WFS1):c.2251G>C (p.Glu751Gln) rs147465252
NM_006005.3(WFS1):c.2254G>A (p.Glu752Lys)
NM_006005.3(WFS1):c.2259G>C (p.Glu753Asp)
NM_006005.3(WFS1):c.2260C>T (p.Leu754Phe)
NM_006005.3(WFS1):c.2282C>T (p.Ala761Val) rs71526459
NM_006005.3(WFS1):c.2287C>T (p.His763Tyr)
NM_006005.3(WFS1):c.2311G>A (p.Asp771Asn)
NM_006005.3(WFS1):c.2314_2315insT (p.Arg772fs)
NM_006005.3(WFS1):c.2315G>A (p.Arg772His) rs758646445
NM_006005.3(WFS1):c.231C>G (p.Thr77=)
NM_006005.3(WFS1):c.2321dup (p.Phe775fs)
NM_006005.3(WFS1):c.2335G>T (p.Val779Leu)
NM_006005.3(WFS1):c.2336T>G (p.Val779Gly)
NM_006005.3(WFS1):c.2372G>A (p.Arg791His) rs775659531
NM_006005.3(WFS1):c.2382GGA[1] (p.Glu795del)
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp) rs373310972
NM_006005.3(WFS1):c.2395A>C (p.Thr799Pro)
NM_006005.3(WFS1):c.2395A>T (p.Thr799Ser)
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met) rs201102144
NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg) rs557048986
NM_006005.3(WFS1):c.2432A>T (p.Lys811Met)
NM_006005.3(WFS1):c.2446A>C (p.Ser816Arg)
NM_006005.3(WFS1):c.2455_2502del (p.Gln819_Gly834del)
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp) rs764842865
NM_006005.3(WFS1):c.2484C>G (p.Ile828Met) rs779957380
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2528A>G (p.Lys843Arg)
NM_006005.3(WFS1):c.2534T>C (p.Ile845Thr)
NM_006005.3(WFS1):c.2536A>G (p.Ser846Gly)
NM_006005.3(WFS1):c.2539T>C (p.Cys847Arg)
NM_006005.3(WFS1):c.2545A>C (p.Asn849His)
NM_006005.3(WFS1):c.2548T>G (p.Cys850Gly) rs966123985
NM_006005.3(WFS1):c.2564C>T (p.Ser855Leu)
NM_006005.3(WFS1):c.2565A>T (p.Ser855=) rs1046316
NM_006005.3(WFS1):c.2569A>C (p.Thr857Pro)
NM_006005.3(WFS1):c.2580C>A (p.His860Gln) rs754802246
NM_006005.3(WFS1):c.2595C>A (p.His865Gln) rs142469572
NM_006005.3(WFS1):c.2596G>T (p.Asp866Tyr) rs3821945
NM_006005.3(WFS1):c.25G>C (p.Gly9Arg)
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro) rs56393026
NM_006005.3(WFS1):c.2606G>A (p.Ser869Asn) rs759360634
NM_006005.3(WFS1):c.2608A>C (p.Thr870Pro)
NM_006005.3(WFS1):c.2611G>C (p.Val871Leu) rs71532874
NM_006005.3(WFS1):c.2638G>C (p.Asp880His) rs776324301
NM_006005.3(WFS1):c.2640CTT[1] (p.Phe884del) rs535021228
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs) rs863224268
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006005.3(WFS1):c.316-13G>A
NM_006005.3(WFS1):c.316-14T>C rs749922151
NM_006005.3(WFS1):c.335A>G (p.Gln112Arg)
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) rs764993824
NM_006005.3(WFS1):c.413G>A (p.Arg138His)
NM_006005.3(WFS1):c.439C>T (p.Arg147Trp)
NM_006005.3(WFS1):c.510C>T (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.547A>G (p.Met183Val)
NM_006005.3(WFS1):c.559C>T (p.Leu187Phe)
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) rs752461187
NM_006005.3(WFS1):c.578dup (p.Gln194fs) rs779272128
NM_006005.3(WFS1):c.618G>C (p.Gln206His)
NM_006005.3(WFS1):c.623A>C (p.Asn208Thr)
NM_006005.3(WFS1):c.623A>G (p.Asn208Ser) rs776488772
NM_006005.3(WFS1):c.643C>T (p.Gln215Ter)
NM_006005.3(WFS1):c.662A>C (p.Lys221Thr)
NM_006005.3(WFS1):c.682_684delinsTGG (p.Arg228Trp)
NM_006005.3(WFS1):c.683_684delinsAG (p.Arg228Gln) rs2109117184
NM_006005.3(WFS1):c.708C>T (p.Ser236=)
NM_006005.3(WFS1):c.70C>T (p.Arg24Cys) rs756667462
NM_006005.3(WFS1):c.712+6T>A
NM_006005.3(WFS1):c.713-19G>A rs776845938
NM_006005.3(WFS1):c.724A>C (p.Ile242Leu)
NM_006005.3(WFS1):c.758A>G (p.Lys253Arg)
NM_006005.3(WFS1):c.791T>C (p.Phe264Ser)
NM_006005.3(WFS1):c.803A>G (p.Asp268Gly)
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter) rs142428158
NM_006005.3(WFS1):c.81C>T (p.Leu27=) rs777168956
NM_006005.3(WFS1):c.824C>T (p.Ala275Val)
NM_006005.3(WFS1):c.853C>T (p.Arg285Cys)
NM_006005.3(WFS1):c.862-18G>A rs763167503
NM_006005.3(WFS1):c.876C>G (p.Pro292=) rs1159812254
NM_006005.3(WFS1):c.880C>G (p.His294Asp)
NM_006005.3(WFS1):c.882C>A (p.His294Gln)
NM_006005.3(WFS1):c.887T>C (p.Ile296Thr)
NM_006005.3(WFS1):c.889A>G (p.Met297Val) rs1553878254
NM_006005.3(WFS1):c.903G>C (p.Glu301Asp)
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) rs863224264
NM_006005.3(WFS1):c.929C>T (p.Ala310Val)
NM_006005.3(WFS1):c.934A>G (p.Met312Val) rs544450962
NM_006005.3(WFS1):c.955A>T (p.Ile319Phe) rs914996283
NM_006005.3(WFS1):c.970A>G (p.Ile324Val)
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile) rs71537678
NM_006005.3(WFS1):c.997G>C (p.Val333Leu)
NM_006005.3(WFS1):c.9dup (p.Asn4fs) rs2109107823
NM_017433.5(MYO3A):c.2682G>A (p.Met894Ile)
NM_024009.3(GJB3):c.342del (p.Lys115fs) rs748575478
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met) rs370196002
NM_080680.3(COL11A2):c.1297C>T (p.Arg433Ter)
NM_080680.3(COL11A2):c.129_132dup (p.Asp45delinsProTer)
NM_080680.3(COL11A2):c.2062G>A (p.Gly688Arg)
NM_080680.3(COL11A2):c.2215G>A (p.Gly739Ser)
NM_080680.3(COL11A2):c.2220G>T (p.Glu740Asp) rs202032297
NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys) rs1770799762
NM_080680.3(COL11A2):c.2567G>A (p.Gly856Glu)
NM_080680.3(COL11A2):c.2589dup (p.Ser864fs)
NM_080680.3(COL11A2):c.2734_2736+14del
NM_080680.3(COL11A2):c.29T>G (p.Leu10Arg) rs2150637256
NM_080680.3(COL11A2):c.3142G>A (p.Gly1048Ser) rs1057524643
NM_080680.3(COL11A2):c.3295G>C (p.Gly1099Arg)
NM_080680.3(COL11A2):c.3313-3C>T rs755108811
NM_080680.3(COL11A2):c.3329dup (p.Gly1111fs)
NM_080680.3(COL11A2):c.3746G>A (p.Gly1249Glu)
NM_080680.3(COL11A2):c.3827G>C (p.Gly1276Ala)
NM_080680.3(COL11A2):c.4081A>T (p.Lys1361Ter)
NM_080680.3(COL11A2):c.4142G>A (p.Gly1381Glu)
NM_080680.3(COL11A2):c.4798C>T (p.Arg1600Ter)
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn) rs369790491
NM_138691.3(TMC1):c.115A>T (p.Arg39Ter)
NM_138691.3(TMC1):c.1166G>A (p.Arg389Gln)
NM_138691.3(TMC1):c.1299C>G (p.Tyr433Ter)
NM_138691.3(TMC1):c.1405-2A>T
NM_138691.3(TMC1):c.150del (p.Asn50fs) rs2132189585
NM_138691.3(TMC1):c.15dup (p.Val6fs) rs878853229
NM_138691.3(TMC1):c.1764G>A (p.Trp588Ter)
NM_138691.3(TMC1):c.2030T>C (p.Ile677Thr)
NM_138691.3(TMC1):c.2050G>A (p.Asp684Asn) rs563322370
NM_138691.3(TMC1):c.2050G>C (p.Asp684His)
NM_138691.3(TMC1):c.535+1G>C
NM_138691.3(TMC1):c.643-2A>G
NM_170682.4(P2RX2):c.1325_1335del (p.Ile441_Ser442insTer) rs876657423

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