ClinVar Miner

List of variants reported as likely pathogenic for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1529
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser) rs138558321 0.00238
NM_000441.2(SLC26A4):c.*239C>T rs113516368 0.00237
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) rs146511800 0.00094
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001354587.1(ANKRD36):c.2479-1G>A rs200852589 0.00076
NM_145199.3(LIPT1):c.369del (p.Lys123fs) rs552120721 0.00071
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00069
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00046
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182 0.00041
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_144672.4(OTOA):c.2120C>T (p.Ala707Val) rs145160241 0.00038
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00024
NM_005797.4(MPZL2):c.544C>T (p.Arg182Ter) rs200462584 0.00022
NM_017433.5(MYO3A):c.1463G>A (p.Gly488Glu) rs145970949 0.00022
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 0.00014
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_012188.5(FOXI1):c.92A>G (p.Tyr31Cys) rs777573595 0.00012
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys) rs569193097 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 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_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_194248.3(OTOF):c.4227+1G>T rs397515601 0.00009
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 0.00008
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp) rs397517344 0.00008
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs) rs751369871 0.00007
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_001384474.1(LOXHD1):c.4376-2A>G rs886043616 0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys) rs756541797 0.00006
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys) rs141585847 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser) rs371730430 0.00006
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.6512G>A (p.Arg2171His) rs531513127 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_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter) rs147717802 0.00006
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 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.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_001031679.3(MSRB3):c.77-2A>G rs145704693 0.00004
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438 0.00004
NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser) rs775633137 0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) rs772040483 0.00004
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter) rs772430523 0.00004
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_001378609.3(OTOGL):c.63del (p.Leu22fs) rs376104832 0.00004
NM_001384474.1(LOXHD1):c.2314A>T (p.Ile772Phe) rs1289895910 0.00004
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys) rs561122654 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627 0.00004
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) rs71532863 0.00004
NM_006005.3(WFS1):c.2293del (p.Cys765fs) rs1381011685 0.00004
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_133261.3(GIPC3):c.662C>T (p.Thr221Ile) rs761543680 0.00004
NM_153676.4(USH1C):c.760-1G>T rs1187887456 0.00004
NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu) rs371994634 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys) rs781916427 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000266.4(NDP):c.269G>A (p.Arg90His) rs104894867 0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_001110219.3(GJB6):c.322C>T (p.Arg108Ter) rs772862268 0.00003
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034 0.00003
NM_001146079.2(CLDN14):c.89G>A (p.Trp30Ter) rs1273842424 0.00003
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter) rs979094623 0.00003
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter) rs530874854 0.00003
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His) rs754786373 0.00003
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His) rs752185665 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_001384474.1(LOXHD1):c.4212+5G>A rs752553552 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_001384474.1(LOXHD1):c.760-2del rs770408532 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 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.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) rs397515411 0.00003
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) rs765741202 0.00003
NM_015971.4(MRPS7):c.536G>A (p.Arg179His) rs752619610 0.00003
NM_016239.4(MYO15A):c.1651G>A (p.Ala551Thr) rs747175448 0.00003
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter) rs771720649 0.00003
NM_016356.5(DCDC2):c.829A>T (p.Lys277Ter) rs775868003 0.00003
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) rs778909195 0.00003
NM_194248.3(OTOF):c.4799+1G>A rs200147906 0.00003
NM_194248.3(OTOF):c.76C>T (p.Arg26Ter) rs145208539 0.00003
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117 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.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_001256317.3(TMPRSS3):c.271C>T (p.Arg91Ter) rs199903164 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter) rs779165268 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835 0.00002
NM_004004.6(GJB2):c.299A>T (p.His100Leu) rs1422767764 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter) rs786204597 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004086.3(COCH):c.271C>T (p.Arg91Ter) rs540895576 0.00002
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser) rs724160019 0.00002
NM_004447.6(EPS8):c.205-8A>G rs180899529 0.00002
NM_005908.4(MANBA):c.2158-2A>G rs772852668 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_017433.5(MYO3A):c.2783C>G (p.Ser928Ter) rs778110879 0.00002
NM_018006.5(TRMU):c.1102-3C>G rs753039116 0.00002
NM_018006.5(TRMU):c.249-2A>G rs768299416 0.00002
NM_018006.5(TRMU):c.96_97del (p.Phe35fs) rs762738569 0.00002
NM_018006.5(TRMU):c.994C>T (p.Arg332Ter) rs759790041 0.00002
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu) rs778251205 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn) rs770665588 0.00002
NM_031475.3(ESPN):c.1464+1G>A rs752649606 0.00002
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144 0.00002
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) rs28942097 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153676.4(USH1C):c.248+1G>A rs1482487617 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn) rs782313585 0.00001
NM_000260.4(MYO7A):c.1555-8C>G rs1057517774 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909 0.00001
NM_000260.4(MYO7A):c.1935+1G>C rs1343207038 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) rs1224819887 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 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.2878G>T (p.Glu960Ter) rs782131913 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110 0.00001
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) rs782808261 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.4569-1G>A rs775792432 0.00001
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623 0.00001
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324 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.5510T>C (p.Leu1837Pro) rs1385324903 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) rs1453053718 0.00001
NM_000260.4(MYO7A):c.5857-2A>G rs1555107286 0.00001
NM_000260.4(MYO7A):c.5945-1G>A rs1268984037 0.00001
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter) rs747095250 0.00001
NM_000441.2(SLC26A4):c.1002G>T (p.Gly334=) rs1791494228 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) rs1293971731 0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn) rs777641484 0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) rs749013429 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.2106del (p.Lys702fs) rs1374832271 0.00001
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779 0.00001
NM_000441.2(SLC26A4):c.2320-2A>G rs1275029034 0.00001
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro) rs1057518810 0.00001
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val) rs1562822565 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly) rs387907088 0.00001
NM_001038603.3(MARVELD2):c.1147-2A>G rs763062791 0.00001
NM_001038603.3(MARVELD2):c.1183-1G>A rs200781822 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter) rs375857763 0.00001
NM_001039213.4(CEACAM16):c.1097C>T (p.Pro366Leu) rs762367899 0.00001
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter) rs367688416 0.00001
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter) rs774844858 0.00001
NM_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter) rs769983282 0.00001
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) rs267607135 0.00001
NM_001128840.3(CACNA1D):c.1116+2T>C rs747136766 0.00001
NM_001135022.2(ELMOD3):c.512A>G (p.His171Arg) rs1280785617 0.00001
NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys) rs367588704 0.00001
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) rs368027306 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001195263.2(PDZD7):c.928+1G>A rs778565403 0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458 0.00001
NM_001199107.2(TBC1D24):c.965+2T>C rs755370981 0.00001
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) rs775062249 0.00001
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) rs397517376 0.00001
NM_001256317.3(TMPRSS3):c.581G>T (p.Cys194Phe) rs1333651774 0.00001
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His) rs137853000 0.00001
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764 0.00001
NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met) rs768140716 0.00001
NM_001256317.3(TMPRSS3):c.767C>T (p.Ala256Val) rs1306292205 0.00001
NM_001292063.2(OTOG):c.3682+1G>A rs554063575 0.00001
NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg) rs534494159 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378609.3(OTOGL):c.1890-1G>T rs777911261 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.3806+2T>C rs756692340 0.00001
NM_001384140.1(PCDH15):c.3807-2A>G rs1328440878 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_001384474.1(LOXHD1):c.246-2A>G rs763062406 0.00001
NM_001384474.1(LOXHD1):c.4531-2A>G rs951333133 0.00001
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs) rs1598914701 0.00001
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter) rs960741408 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001384474.1(LOXHD1):c.5085+1G>T rs1418245706 0.00001
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu) rs1442825433 0.00001
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe) rs533568822 0.00001
NM_001393500.2(TOMT):c.73C>T (p.Arg25Ter) rs1298804148 0.00001
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp) rs778379327 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_002906.4(RDX):c.1135C>T (p.Arg379Ter) rs772146113 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.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 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.408C>A (p.Tyr136Ter) rs786204690 0.00001
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr) rs1268045311 0.00001
NM_004086.3(COCH):c.538C>T (p.Arg180Ter) rs559481815 0.00001
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434 0.00001
NM_004100.5(EYA4):c.1739-1G>A rs797045088 0.00001
NM_004208.4(AIFM1):c.1492G>A (p.Val498Met) rs724160023 0.00001
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met) rs724160017 0.00001
NM_004525.3(LRP2):c.11798A>G (p.Tyr3933Cys) rs1474741555 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_005219.5(DIAPH1):c.145-1G>A rs763349669 0.00001
NM_005422.4(TECTA):c.2367G>A (p.Lys789=) rs1448260319 0.00001
NM_005422.4(TECTA):c.3107G>A (p.Cys1036Tyr) rs772606235 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys) rs1455568421 0.00001
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val) rs1415687857 0.00001
NM_005709.4(USH1C):c.1211-3_1232del rs1246699436 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter) rs1335076773 0.00001
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu) rs370564476 0.00001
NM_012208.4(HARS2):c.413G>A (p.Arg138His) rs1432653451 0.00001
NM_016239.4(MYO15A):c.10491+2T>C rs1390498839 0.00001
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met) rs773648511 0.00001
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter) rs763075073 0.00001
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107 0.00001
NM_016239.4(MYO15A):c.4039A>T (p.Ile1347Phe) rs375627187 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr) rs576399072 0.00001
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) rs371352836 0.00001
NM_016239.4(MYO15A):c.6841G>A (p.Asp2281Asn) rs371717411 0.00001
NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His) rs773476384 0.00001
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs) rs757070287 0.00001
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) rs759523751 0.00001
NM_017433.5(MYO3A):c.3003del (p.Tyr1002fs) rs746055369 0.00001
NM_018006.5(TRMU):c.803del (p.Ala268fs) rs745338284 0.00001
NM_018006.5(TRMU):c.83-2A>G rs747853875 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn) rs1057519500 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6533T>A (p.Ile2178Asn) rs772953914 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser) rs780917129 0.00001
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp) rs936479651 0.00001
NM_022124.6(CDH23):c.8146del (p.Asp2716fs) rs1564804195 0.00001
NM_024009.3(GJB3):c.703C>T (p.Arg235Ter) rs144964568 0.00001
NM_031475.3(ESPN):c.2524C>T (p.Arg842Ter) rs1644131579 0.00001
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu) rs765574676 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr) rs1348505504 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.564C>A (p.Tyr188Ter) rs1178631956 0.00001
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr) rs747645756 0.00001
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp) rs200656442 0.00001
NM_147196.3(TMIE):c.241C>T (p.Arg81Cys) rs28942096 0.00001
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter) rs1278026061 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153676.4(USH1C):c.104+1G>A rs1287021691 0.00001
NM_153676.4(USH1C):c.2227-1G>T rs778110397 0.00001
NM_153676.4(USH1C):c.2281-2A>G rs921755529 0.00001
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088 0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777 0.00001
NM_153676.4(USH1C):c.658C>T (p.Arg220Ter) rs766327614 0.00001
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703 0.00001
NM_153676.4(USH1C):c.877-1G>A rs771279169 0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NM_153700.2(STRC):c.4510del (p.Glu1504fs) rs759816064 0.00001
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter) rs756606635 0.00001
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631 0.00001
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val) rs762876554 0.00001
NM_194248.3(OTOF):c.2719C>T (p.Gln907Ter) rs1249447410 0.00001
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys) rs397515605 0.00001
NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp) rs1172714485 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp) rs530821443 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
46;XY;t(5;7)(q14.3;q21.3)dn
GRCh37/hg19 12p12.3(chr12:15800060-15865927)
GRCh37/hg19 16p13.3(chr16:6042083-6237086)
Multiple alleles
NC_000001.10:g.(103388956_103400026)_(104094395_?)del
NC_000002.11:g.(26726714_26739285)_(26741978_26750699)del
NC_000010.11:g.53995649_54022892del
NC_000015.10:g.(?_43906612)_(43906674_)?del
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
NC_000015.9:g.(43893213_43893593)_(43897598_43900060)del
NC_000015.9:g.(?_43891760)_(43897598_43900060)del
NC_000016.10:g.21730837_21730930del rs2141723087
NC_000018.9:g.(44098220_44102063)_(44102273_44104428)del
NC_012920.1:m.15246G>A rs1057516075
NC_012920.1:m.1555A>G rs267606617
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000260.4(MYO7A):c.1046C>A (p.Ser349Tyr) rs782432573
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.117_132+6del rs1555051567
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.1211G>A (p.Gly404Glu) rs973746837
NM_000260.4(MYO7A):c.133-2A>C rs782064437
NM_000260.4(MYO7A):c.133del rs1591224147
NM_000260.4(MYO7A):c.1343+1G>A rs914189193
NM_000260.4(MYO7A):c.1691-2A>G rs1555072299
NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs) rs2135345560
NM_000260.4(MYO7A):c.1798-1G>A rs1555076948
NM_000260.4(MYO7A):c.1798-1G>T rs1555076948
NM_000260.4(MYO7A):c.18+2T>A rs564622720
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.2187+1G>T rs111033290
NM_000260.4(MYO7A):c.2221G>A (p.Asp741Asn)
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs) rs1555080760
NM_000260.4(MYO7A):c.2283-2_2293del rs1555082041
NM_000260.4(MYO7A):c.2339del (p.Gly780fs) rs1565402473
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter) rs1555082145
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.2764AAG[1] (p.Lys923del) rs1955175992
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) rs782281371
NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs) rs1955319492
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) rs1555061466
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter) rs1555085978
NM_000260.4(MYO7A):c.3504-2A>G rs1555090168
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro) rs1565430886
NM_000260.4(MYO7A):c.3612_3615del (p.Ser1205fs)
NM_000260.4(MYO7A):c.3631-1G>C rs1555090885
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) rs750358148
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs) rs1955999847
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) rs1555091636
NM_000260.4(MYO7A):c.3886del (p.Arg1296fs) rs2135563245
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3893G>A (p.Gly1298Glu)
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs) rs1555092993
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) rs1555093028
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) rs1480697910
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) rs1555096070
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4528G>A (p.Glu1510Lys)
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs) rs1555100200
NM_000260.4(MYO7A):c.4635G>A (p.Trp1545Ter) rs918353878
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs) rs1555100315
NM_000260.4(MYO7A):c.471-1G>A rs548172627
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) rs1052030
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs) rs1555100603
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs) rs1555100625
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs) rs1188637368
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) rs1555101858
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) rs1201586094
NM_000260.4(MYO7A):c.496del (p.Glu166fs) rs111033448
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) rs1555102041
NM_000260.4(MYO7A):c.5043+1G>T rs1555102147
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) rs530520654
NM_000260.4(MYO7A):c.5168+2T>C rs1192104600
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) rs1555103458
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) rs1555103532
NM_000260.4(MYO7A):c.5326+3A>G rs1565469959
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) rs377267777
NM_000260.4(MYO7A):c.5481-1G>C rs1555105118
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) rs1555105135
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) rs746667217
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) rs1555105202
NM_000260.4(MYO7A):c.5552T>C (p.Leu1851Pro)
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs) rs1555106609
NM_000260.4(MYO7A):c.580C>T (p.Pro194Ser)
NM_000260.4(MYO7A):c.5856+5G>C rs1386887007
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs) rs1555107555
NM_000260.4(MYO7A):c.6051+1G>A rs1403288739
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.6237+1G>A rs1338605788
NM_000260.4(MYO7A):c.6238-2A>C rs1555109612
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg) rs1223784415
NM_000260.4(MYO7A):c.6491del (p.Asn2164fs) rs2135802675
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) rs104894922
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr) rs397516335
NM_000307.5(POU3F4):c.767T>C (p.Leu256Pro)
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) rs1060499806
NM_000307.5(POU3F4):c.923T>A (p.Ile308Asn)
NM_000307.5(POU3F4):c.968G>A (p.Arg323His) rs727505246
NM_000307.5(POU3F4):c.983A>G (p.Asn328Ser)
NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly) rs926775037
NM_000435.3(NOTCH3):c.2129A>G (p.Tyr710Cys)
NM_000435.3(NOTCH3):c.709G>T (p.Val237Leu)
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1002-2A>G
NM_000441.2(SLC26A4):c.1002-4C>G rs2129315781
NM_000441.2(SLC26A4):c.1002del
NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val) rs111033212
NM_000441.2(SLC26A4):c.107A>C (p.His36Pro)
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter) rs121908361
NM_000441.2(SLC26A4):c.1150-1G>T rs1791525285
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val) rs777333979
NM_000441.2(SLC26A4):c.1172G>A (p.Ser391Asn)
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1216_1218delinsC (p.Ala406fs)
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1226G>T (p.Arg409Leu)
NM_000441.2(SLC26A4):c.1229C>A (p.Thr410Lys) rs111033220
NM_000441.2(SLC26A4):c.1261C>T (p.Gln421Ter)
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1263+1G>T rs1057517000
NM_000441.2(SLC26A4):c.1264-3C>G rs1562835391
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs) rs1584292992
NM_000441.2(SLC26A4):c.1325T>C (p.Leu442Pro) rs2129316904
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp) rs747076316
NM_000441.2(SLC26A4):c.1343_1355dup (p.Val453fs) rs1791686622
NM_000441.2(SLC26A4):c.1370A>T (p.Asn457Ile)
NM_000441.2(SLC26A4):c.1371C>G (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1377del (p.Met461fs)
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) rs1554359693
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1449del (p.Phe484fs)
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.2(SLC26A4):c.1549del (p.Ser517fs)
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter) rs1562817529
NM_000441.2(SLC26A4):c.1552T>G (p.Trp518Gly) rs2129317522
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>C (p.Ile529Thr) rs786204739
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) rs1057516243
NM_000441.2(SLC26A4):c.1614+1del
NM_000441.2(SLC26A4):c.1615-1G>T
NM_000441.2(SLC26A4):c.1615A>G (p.Ile539Val)
NM_000441.2(SLC26A4):c.1629del (p.Gly544fs)
NM_000441.2(SLC26A4):c.1656T>G (p.Ser552Arg) rs2129317902
NM_000441.2(SLC26A4):c.1657C>T (p.Pro553Ser) rs2129317904
NM_000441.2(SLC26A4):c.1673del (p.Asn558fs)
NM_000441.2(SLC26A4):c.1693T>G (p.Cys565Gly) rs767255075
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.1707+4_1707+7del
NM_000441.2(SLC26A4):c.1708-1G>T rs759414956
NM_000441.2(SLC26A4):c.1708-27_1708-11del rs1554360816
NM_000441.2(SLC26A4):c.1717G>C (p.Asp573His)
NM_000441.2(SLC26A4):c.1717G>T (p.Asp573Tyr)
NM_000441.2(SLC26A4):c.1730T>G (p.Val577Gly)
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter)
NM_000441.2(SLC26A4):c.1905_1906del (p.Glu635fs)
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.2026del (p.Leu676fs) rs2129318299
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2035-2A>C
NM_000441.2(SLC26A4):c.2035-2A>G
NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro)
NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)
NM_000441.2(SLC26A4):c.2069T>A (p.Val690Glu) rs2129318790
NM_000441.2(SLC26A4):c.2089+1G>T
NM_000441.2(SLC26A4):c.208C>T (p.Pro70Ser)
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2162C>A (p.Thr721Lys) rs121908363
NM_000441.2(SLC26A4):c.2215dup (p.Gln739fs)
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)
NM_000441.2(SLC26A4):c.2235+2T>C rs1554362815
NM_000441.2(SLC26A4):c.2248C>T (p.Gln750Ter)
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu) rs2129309208
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_000441.2(SLC26A4):c.338del (p.Val113fs)
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser) rs984967571
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.401G>C (p.Arg134Thr) rs1790889845
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.412_415+21delinsTGACA
NM_000441.2(SLC26A4):c.413T>A (p.Val138Asp) rs1790890770
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) rs756272252
NM_000441.2(SLC26A4):c.42del (p.Glu15fs) rs1562817224
NM_000441.2(SLC26A4):c.518dup (p.Thr174fs)
NM_000441.2(SLC26A4):c.584T>C (p.Leu195Pro)
NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)
NM_000441.2(SLC26A4):c.617T>A (p.Leu206Ter) rs2129311933
NM_000441.2(SLC26A4):c.642del (p.Leu215fs)
NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter)
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu) rs1349370504
NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs) rs750365180
NM_000441.2(SLC26A4):c.765+3A>C rs483353048
NM_000441.2(SLC26A4):c.839del (p.Val280fs)
NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp) rs1554352240
NM_000441.2(SLC26A4):c.882_883del (p.His294fs) rs2129314494
NM_000899.5(KITLG):c.16-2A>G
NM_000899.5(KITLG):c.715-2A>G
NM_001001331.4(ATP2B2):c.945dup (p.Asp316fs)
NM_001002295.2(GATA3):c.153dup (p.Asn52Ter) rs2131482893
NM_001004051.4(GPRASP2):c.2363G>T (p.Ser788Ile)
NM_001031679.3(MSRB3):c.-147T>G rs949229098
NM_001031679.3(MSRB3):c.406G>A (p.Gly136Arg) rs2136722469
NM_001038603.3(MARVELD2):c.1122dup (p.Arg375Ter) rs2150915422
NM_001038603.3(MARVELD2):c.1138C>T (p.Gln380Ter) rs1766596437
NM_001038603.3(MARVELD2):c.1208_1211del (p.Arg403fs) rs772030670
NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs) rs1561299289
NM_001038603.3(MARVELD2):c.1331+2T>C rs772048719
NM_001038603.3(MARVELD2):c.880_890del (p.Phe294fs) rs770042200
NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter) rs1569034190
NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter) rs773152243
NM_001039141.3(TRIOBP):c.1855del (p.Ala619fs) rs2145833313
NM_001039141.3(TRIOBP):c.3145_3146del (p.Glu1048_Ser1049insTer) rs1555896285
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs) rs771696726
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) rs1569042782
NM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter) rs1329127252
NM_001039141.3(TRIOBP):c.4436del (p.Gly1479fs) rs756145453
NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser) rs1569040134
NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs) rs1599814534
NM_001039876.3(SYNE4):c.377del (p.Gly126fs)
NM_001039876.3(SYNE4):c.653T>A (p.Leu218Ter)
NM_001042517.2(DIAPH3):c.2266-2A>G rs1593949468
NM_001042702.5(PJVK):c.158C>G (p.Ser53Ter) rs538027448
NM_001042702.5(PJVK):c.162_172del (p.Pro55fs) rs1559366084
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del) rs1559372512
NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter) rs267606855
NM_001080476.3(GRXCR1):c.655G>A (p.Glu219Lys) rs1560690591
NM_001080476.3(GRXCR1):c.668T>A (p.Leu223Gln)
NM_001080517.3(SETD5):c.2182del (p.Asp728fs) rs2125288982
NM_001110219.3(GJB6):c.487del (p.Leu163fs) rs1566538321
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001122659.3(EDNRB):c.1013C>T (p.Pro338Leu) rs1566304640
NM_001122659.3(EDNRB):c.878dup (p.Tyr293Ter) rs1064797177
NM_001124758.3(SPNS2):c.906G>A (p.Trp302Ter)
NM_001127453.2(GSDME):c.1183+5G>A rs777359423
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_001127453.2(GSDME):c.212-1G>A rs1790597003
NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter) rs1187168418
NM_001142966.3(GREB1L):c.2594T>A (p.Leu865Ter) rs2145813286
NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter) rs2146025908
NM_001145026.2(PTPRQ):c.1291C>T (p.Arg431Ter)
NM_001145026.2(PTPRQ):c.2621C>A (p.Ser874Ter) rs948217913
NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr)
NM_001145026.2(PTPRQ):c.3308_3309del (p.Leu1103fs)
NM_001145026.2(PTPRQ):c.3G>A (p.Met1Ile) rs916582229
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs) rs1565819402
NM_001145026.2(PTPRQ):c.6024+2T>C rs2121223982
NM_001145026.2(PTPRQ):c.6194_6453+1del rs2121280782
NM_001145026.2(PTPRQ):c.6739-1G>A rs1565855932
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=) rs774544844
NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser) rs1577876794
NM_001145809.2(MYH14):c.571G>A (p.Asp191Asn)
NM_001145809.2(MYH14):c.571G>C (p.Asp191His)
NM_001145951.2(TIMM8A):c.*1727_*1729del rs1555976134
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) rs1568839335
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) rs74315437
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) rs786204841
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) rs953422571
NM_001195263.2(PDZD7):c.1750-2A>G
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) rs1055318738
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del) rs397516636
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001198533.2(OXR1):c.233A>G (p.Lys78Arg)
NM_001199107.2(TBC1D24):c.1302+1G>T
NM_001199107.2(TBC1D24):c.1303-2A>G rs2141876985
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser) rs1489466696
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln) rs756181906
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His) rs1555501320
NM_001199107.2(TBC1D24):c.965+1G>T
NM_001199107.2(TBC1D24):c.983+1G>C rs2141873582
NM_001199107.2(TBC1D24):c.983+2T>C rs1596969717
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) rs1226171550
NM_001199799.2(ILDR1):c.1137del (p.Glu379fs) rs2071390190
NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs) rs1559870857
NM_001199799.2(ILDR1):c.206C>A (p.Pro69His)
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile) rs387907016
NM_001199799.2(ILDR1):c.745del (p.Ser249fs) rs571007078
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) rs2103174031
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) rs180177452
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) rs773780151
NM_001256317.3(TMPRSS3):c.1328T>C (p.Ile443Thr)
NM_001256317.3(TMPRSS3):c.188T>G (p.Leu63Arg)
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.297del (p.Asp100fs)
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln) rs2052560214
NM_001256317.3(TMPRSS3):c.771C>G (p.His257Gln)
NM_001256317.3(TMPRSS3):c.783-1G>T rs1237955948
NM_001256317.3(TMPRSS3):c.818G>T (p.Gly273Val)
NM_001256317.3(TMPRSS3):c.917C>T (p.Ala306Val)
NM_001256317.3(TMPRSS3):c.965C>A (p.Pro322His) rs2146430688
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001286445.3(RIPOR2):c.1498C>T (p.Arg500Ter)
NM_001292063.2(OTOG):c.1451G>T (p.Cys484Phe) rs1051388148
NM_001292063.2(OTOG):c.2561+1del rs1852533572
NM_001292063.2(OTOG):c.5281_5284dup (p.Ser1762Ter) rs2134090994
NM_001292063.2(OTOG):c.5438T>G (p.Val1813Gly) rs1853512469
NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter) rs2134091591
NM_001292063.2(OTOG):c.5926del (p.Gln1976fs)
NM_001292063.2(OTOG):c.7199del (p.Cys2400fs) rs1565127413
NM_001292063.2(OTOG):c.7860G>A (p.Trp2620Ter) rs1565129771
NM_001292063.2(OTOG):c.8632C>T (p.Arg2878Cys)
NM_001292063.2(OTOG):c.880del (p.Asp294fs)
NM_001363118.2(SLC52A2):c.124C>G (p.Pro42Ala) rs1175039425
NM_001363118.2(SLC52A2):c.973T>G (p.Cys325Gly) rs1554854341
NM_001375524.1(TRRAP):c.2622+1G>A
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val) rs1793524609
NM_001378454.1(ALMS1):c.3G>A (p.Met1Ile) rs2104056063
NM_001378457.1(DMXL2):c.8219G>A (p.Arg2740His)
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val) rs1277996676
NM_001378609.3(OTOGL):c.4279+1G>A rs2137876491
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs) rs763898293
NM_001378609.3(OTOGL):c.4600+1G>T
NM_001378609.3(OTOGL):c.5027C>G (p.Ser1676Ter) rs1477766714
NM_001378609.3(OTOGL):c.5211C>A (p.Cys1737Ter) rs2137943672
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) rs876657658
NM_001379180.1(ESRRB):c.*1451C>G rs1485778712
NM_001379180.1(ESRRB):c.583C>T (p.Arg195Cys) rs138510486
NM_001384140.1(PCDH15):c.1013dup (p.His339fs)
NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter) rs2051720336
NM_001384140.1(PCDH15):c.1178C>T (p.Pro393Leu)
NM_001384140.1(PCDH15):c.1299del (p.Ile433fs)
NM_001384140.1(PCDH15):c.1306-1G>T rs1299990309
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) rs2133817680
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter)
NM_001384140.1(PCDH15):c.1431C>A (p.Tyr477Ter)
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter) rs2133801342
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309
NM_001384140.1(PCDH15):c.1591-2A>C
NM_001384140.1(PCDH15):c.1717_1729del (p.Met573fs)
NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter) rs1264383341
NM_001384140.1(PCDH15):c.1738_1739del (p.Ala580fs)
NM_001384140.1(PCDH15):c.1738del (p.Ala580fs)
NM_001384140.1(PCDH15):c.1778_1784dup (p.Asn596fs)
NM_001384140.1(PCDH15):c.1784+1G>T
NM_001384140.1(PCDH15):c.1841del (p.Pro614fs)
NM_001384140.1(PCDH15):c.1917+1G>A
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs) rs2136049616
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer) rs765906921
NM_001384140.1(PCDH15):c.2092-2A>G
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter) rs2094144044
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs) rs2135322143
NM_001384140.1(PCDH15):c.2356G>T (p.Glu786Ter)
NM_001384140.1(PCDH15):c.2388dup (p.His797fs)
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_001384140.1(PCDH15):c.2544del (p.Gly849fs)
NM_001384140.1(PCDH15):c.2662C>T (p.Gln888Ter)
NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter) rs2091805733
NM_001384140.1(PCDH15):c.2825_2828dup (p.Pro944fs)
NM_001384140.1(PCDH15):c.2869-1G>T rs1554883705
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs) rs2134302083
NM_001384140.1(PCDH15):c.2922C>G (p.Tyr974Ter)
NM_001384140.1(PCDH15):c.3009+1G>C
NM_001384140.1(PCDH15):c.3009+1G>T
NM_001384140.1(PCDH15):c.3010-1G>C rs2134277047
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer) rs1554882652
NM_001384140.1(PCDH15):c.3122+1G>A rs982893820
NM_001384140.1(PCDH15):c.3300_3319dup (p.Val1107fs)
NM_001384140.1(PCDH15):c.3373+2T>C
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3499A>T (p.Lys1167Ter)
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs)
NM_001384140.1(PCDH15):c.366del (p.Asn122fs) rs1589072933
NM_001384140.1(PCDH15):c.3717+1G>C rs748706627
NM_001384140.1(PCDH15):c.371_372delinsT (p.Lys124fs)
NM_001384140.1(PCDH15):c.3751del (p.Ile1251fs)
NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)
NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs)
NM_001384140.1(PCDH15):c.3984-2A>C
NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs)
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_001384140.1(PCDH15):c.4094dup (p.Arg1366fs)
NM_001384140.1(PCDH15):c.4126del (p.Ala1376fs)
NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu) rs2134714388
NM_001384140.1(PCDH15):c.4223_4226dup (p.Cys1409Ter)
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_001384140.1(PCDH15):c.42del (p.Ile15fs)
NM_001384140.1(PCDH15):c.4367+1G>A rs1057516613
NM_001384140.1(PCDH15):c.4367+2251G>A
NM_001384140.1(PCDH15):c.4367+2T>C rs1554822703
NM_001384140.1(PCDH15):c.4367+2dup
NM_001384140.1(PCDH15):c.457dup (p.Tyr153fs)
NM_001384140.1(PCDH15):c.475-2A>G
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter) rs1943288780
NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter) rs1943286459
NM_001384140.1(PCDH15):c.754_755insAA (p.Thr252fs) rs2133652254
NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln) rs1564949059
NM_001384140.1(PCDH15):c.876+2T>C
NM_001384140.1(PCDH15):c.91+1G>A rs1565887701
NM_001384140.1(PCDH15):c.915dup (p.Ala306fs)
NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter)
NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter)
NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs) rs2144243196
NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter)
NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter)
NM_001384474.1(LOXHD1):c.1519-2A>T
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter)
NM_001384474.1(LOXHD1):c.1904T>C (p.Leu635Pro) rs1051629865
NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter)
NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter)
NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter)
NM_001384474.1(LOXHD1):c.2598+1G>A
NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter) rs2037495535
NM_001384474.1(LOXHD1):c.2842del (p.Glu948fs) rs2144013371
NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs) rs974766727
NM_001384474.1(LOXHD1):c.3061+1G>T rs537227442
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter) rs1555679863
NM_001384474.1(LOXHD1):c.3350+1G>A rs1301706601
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs) rs2143824066
NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter)
NM_001384474.1(LOXHD1):c.3663del (p.Phe1221fs) rs2144371589
NM_001384474.1(LOXHD1):c.3727C>T (p.Arg1243Trp)
NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter)
NM_001384474.1(LOXHD1):c.3999C>A (p.Cys1333Ter)
NM_001384474.1(LOXHD1):c.4095+1G>A rs1280052681
NM_001384474.1(LOXHD1):c.4096-1G>C rs749861944
NM_001384474.1(LOXHD1):c.4375+1G>T rs2036150181
NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter)
NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter)
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)
NM_001384474.1(LOXHD1):c.4740+1G>A rs2144167172
NM_001384474.1(LOXHD1):c.4877-1G>A rs1598909650
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs) rs776345911
NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs)
NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter)
NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs)
NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter)
NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter)
NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs)
NM_001384474.1(LOXHD1):c.5907T>A (p.Tyr1969Ter) rs1598827506
NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs)
NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs)
NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs) rs2032939837
NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs)
NM_001384474.1(LOXHD1):c.6182+1G>T rs200375658
NM_001384474.1(LOXHD1):c.6342-1G>A
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter) rs1434725624
NM_001384474.1(LOXHD1):c.870del (p.Ala291fs)
NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter)
NM_001393500.2(TOMT):c.285_286insCTCG (p.Glu96fs) rs1565331646
NM_001393500.2(TOMT):c.467del (p.Ile156fs)
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp) rs1192977984
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
NM_001614.5(ACTG1):c.20C>T (p.Ala7Val)
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe) rs2143779274
NM_001614.5(ACTG1):c.440G>A (p.Arg147His) rs2143779222
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.493A>G (p.Ile165Val) rs2031770749
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) rs797044730
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp) rs1362994447
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met) rs281875327
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_001614.5(ACTG1):c.826G>A (p.Glu276Lys) rs2143775790
NM_001614.5(ACTG1):c.848T>C (p.Met283Thr) rs2143775617
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser) rs1598551290
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
NM_001792.5(CDH2):c.1471G>C (p.Val491Leu)
NM_001792.5(CDH2):c.1805C>G (p.Ala602Gly)
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) rs1558939623
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp) rs1057518908
NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)
NM_001854.4(COL11A1):c.2287G>T (p.Gly763Ter) rs2101794024
NM_001854.4(COL11A1):c.3168+1G>A rs886042653
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala) rs1477374848
NM_001854.4(COL11A1):c.3600+2T>C
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys) rs763199410
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.652-1G>C rs1064797115
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002700.3(POU4F3):c.374C>T (p.Pro125Leu) rs1561590396
NM_002700.3(POU4F3):c.479del (p.Gly160fs)
NM_002700.3(POU4F3):c.494_497del (p.His165fs)
NM_002700.3(POU4F3):c.545C>G (p.Ser182Ter) rs1284441535
NM_002700.3(POU4F3):c.635T>C (p.Leu212Pro) rs1760430376
NM_002700.3(POU4F3):c.696G>T (p.Glu232Asp) rs1760431636
NM_002700.3(POU4F3):c.743T>C (p.Leu248Pro)
NM_002700.3(POU4F3):c.879C>G (p.Phe293Leu)
NM_002700.3(POU4F3):c.952G>A (p.Val318Met) rs2126962041
NM_002906.4(RDX):c.-64-1215_12+348del
NM_002906.4(RDX):c.1076_1079del (p.Ile359fs)
NM_002906.4(RDX):c.1141C>T (p.Arg381Ter) rs1308348441
NM_002906.4(RDX):c.295C>T (p.Gln99Ter)
NM_002906.4(RDX):c.513_514del (p.Arg171fs) rs2134364635
NM_003672.4(CDC14A):c.50-1G>T rs2100872719
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) rs148737918
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) rs369245990
NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro) rs1339709390
NM_003722.5(TP63):c.589G>C (p.Glu197Gln)
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly) rs111033296
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.130_131del (p.Trp44fs) rs1555341993
NM_004004.6(GJB2):c.134del (p.Gly45fs) rs1057517491
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe) rs587783645
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser) rs1064797090
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr) rs104894403
NM_004004.6(GJB2):c.1A>T (p.Met1Leu) rs111033293
NM_004004.6(GJB2):c.223C>G (p.Arg75Gly) rs104894402
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
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.232G>A (p.Ala78Thr) rs1959060696
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
NM_004004.6(GJB2):c.239dup (p.Leu81fs) rs1555341954
NM_004004.6(GJB2):c.247_249del (p.Phe83del) rs2137308192
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.257del (p.Thr86fs) rs1555341949
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.326G>T (p.Gly109Val) rs374572413
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer) rs1555341926
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter) rs150529554
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.382A>G (p.Ile128Val) rs1959058329
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.3G>A (p.Met1Ile)
NM_004004.6(GJB2):c.409A>C (p.Thr137Pro) rs2137307658
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.458_475dup (p.Tyr158_Asp159insValPheTyrValMetTyr)
NM_004004.6(GJB2):c.49_50del (p.Ser17fs) rs1555342007
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg) rs760489970
NM_004004.6(GJB2):c.514del (p.Trp172fs) rs1057517508
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) rs1302739538
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.575_576del (p.Thr192fs) rs1057517521
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.668_671del (p.Lys223fs) rs1555341783
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val) rs1557458426
NM_004086.3(COCH):c.1053C>A (p.Cys351Ter) rs1895773215
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter) rs1562505728
NM_004100.5(EYA4):c.1463dup (p.Glu490fs) rs2128782580
NM_004100.5(EYA4):c.1468G>T (p.Glu490Ter) rs1305000119
NM_004100.5(EYA4):c.472C>T (p.Gln158Ter) rs1794473050
NM_004208.4(AIFM1):c.-123G>C rs724160014
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg) rs724160026
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val) rs724160025
NM_004208.4(AIFM1):c.1394C>T (p.Ala465Val)
NM_004208.4(AIFM1):c.1408A>T (p.Thr470Ser)
NM_004208.4(AIFM1):c.1415C>T (p.Ala472Val)
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu) rs724160022
NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His) rs724160024
NM_004208.4(AIFM1):c.1705A>G (p.Arg569Gly)
NM_004208.4(AIFM1):c.1773C>G (p.Ile591Met)
NM_004208.4(AIFM1):c.434C>T (p.Ala145Val) rs724160015
NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro) rs724160016
NM_004208.4(AIFM1):c.697G>A (p.Val233Ile)
NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr) rs724160018
NM_004208.4(AIFM1):c.902A>T (p.Lys301Ile)
NM_004287.5(GOSR2):c.1A>C (p.Met1Leu)
NM_004447.6(EPS8):c.1435-2A>T rs1945336251
NM_004525.3(LRP2):c.9449G>A (p.Cys3150Tyr)
NM_004526.4(MCM2):c.388C>T (p.Arg130Cys) rs770528099
NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile) rs1225963332
NM_004604.5(STX4):c.232+6T>C
NM_004700.4(KCNQ4):c.1251del (p.Cys418fs) rs2148324207
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter) rs1648636515
NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter)
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004700.4(KCNQ4):c.826T>C (p.Trp276Arg) rs2148319465
NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser) rs876657841
NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser) rs137853969
NM_004984.4(KIF5A):c.2396A>G (p.Lys799Arg)
NM_004999.4(MYO6):c.188-1G>T
NM_004999.4(MYO6):c.2078-2A>G rs1777874560
NM_004999.4(MYO6):c.2397C>A (p.Cys799Ter) rs2149347766
NM_004999.4(MYO6):c.2416+2T>C
NM_004999.4(MYO6):c.2437C>T (p.Arg813Ter)
NM_004999.4(MYO6):c.2442_2445dup (p.Ala816Ter)
NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer)
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_004999.4(MYO6):c.2777T>A (p.Leu926Gln) rs2149367858
NM_004999.4(MYO6):c.3340dup (p.Ala1114fs)
NM_004999.4(MYO6):c.78del (p.Asp27fs) rs1771411002
NM_004999.4(MYO6):c.866_869del (p.Lys289fs) rs749752357
NM_004999.4(MYO6):c.897G>T (p.Glu299Asp) rs1060499799
NM_005219.5(DIAPH1):c.1280+2T>G rs2154596416
NM_005219.5(DIAPH1):c.144+2T>G
NM_005219.5(DIAPH1):c.2676+2T>G
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg) rs1596339533
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005219.5(DIAPH1):c.3629_3630del (p.Ala1210fs) rs1596335566
NM_005219.5(DIAPH1):c.402+2T>C rs2154596613
NM_005219.5(DIAPH1):c.621-2A>G rs2099896905
NM_005219.5(DIAPH1):c.791C>A (p.Ser264Tyr)
NM_005422.4(TECTA):c.102del (p.Asn34fs) rs2135050168
NM_005422.4(TECTA):c.1247_1248del (p.Gly416fs) rs773573968
NM_005422.4(TECTA):c.1774G>A (p.Val592Met) rs1565522273
NM_005422.4(TECTA):c.2359del (p.Glu787fs) rs1057519150
NM_005422.4(TECTA):c.2458A>T (p.Lys820Ter)
NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter) rs368050948
NM_005422.4(TECTA):c.2785del (p.Val929fs) rs34851638
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser) rs121909059
NM_005422.4(TECTA):c.4422del (p.Asn1474fs) rs2135120291
NM_005422.4(TECTA):c.5510G>A (p.Cys1837Tyr) rs1947056659
NM_005422.4(TECTA):c.5539T>C (p.Ser1847Pro) rs1947057220
NM_005422.4(TECTA):c.569C>T (p.Thr190Met)
NM_005422.4(TECTA):c.6162+5G>A rs1565541888
NM_005422.4(TECTA):c.6353del (p.Gly2118fs) rs1223512271
NM_005422.4(TECTA):c.840_841insT (p.Val281fs) rs1565519673
NM_005797.4(MPZL2):c.226-1G>A rs1949708829
NM_005797.4(MPZL2):c.280C>T (p.Arg94Trp)
NM_005797.4(MPZL2):c.319_320dup (p.Ile108fs) rs2134734280
NM_005797.4(MPZL2):c.3G>T (p.Met1Ile)
NM_005797.4(MPZL2):c.68del (p.Pro23fs)
NM_005909.5(MAP1B):c.2995C>T (p.Arg999Ter)
NM_005982.4(SIX1):c.316G>T (p.Val106Leu) rs2140241235
NM_005982.4(SIX1):c.329G>T (p.Arg110Leu) rs1064794308
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter) rs1060499595
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.1543TTC[1] (p.Phe516del) rs777904670
NM_006005.3(WFS1):c.1544_1545insA (p.Phe515fs)
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer) rs1560419631
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2123G>T (p.Arg708Leu)
NM_006005.3(WFS1):c.2411T>C (p.Leu804Pro) rs1131691778
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006005.3(WFS1):c.2645T>G (p.Phe882Cys)
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) rs764993824
NM_006016.6(CD164):c.574C>T (p.Arg192Ter) rs876661402
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006383.4(CIB2):c.199-1G>A
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) rs370965183
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_012208.4(HARS2):c.1439G>A (p.Arg480His) rs200089613
NM_012208.4(HARS2):c.72C>A (p.Cys24Ter) rs1581536078
NM_012208.4(HARS2):c.828delinsGTATCCCTAGTATTTCTACTA (p.Gly276_Gly277insTyrProTer) rs1581550832
NM_012478.4(WBP2):c.161C>G (p.Pro54Arg) rs770968991
NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu) rs755804651
NM_014332.3(SMPX):c.132+1G>A rs2147390444
NM_014332.3(SMPX):c.133-1G>A rs1060499590
NM_014332.3(SMPX):c.140del (p.Pro47fs) rs2147387122
NM_014332.3(SMPX):c.217del (p.Ile73fs)
NM_014332.3(SMPX):c.29del (p.Asn10fs) rs2092830420
NM_014874.4(MFN2):c.754A>G (p.Asn252Asp)
NM_015100.4(POGZ):c.402_409dup (p.His137fs) rs1057518799
NM_015205.3(ATP11A):c.3044_3045del (p.Thr1015fs)
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs) rs1564113368
NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp) rs1810682433
NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter)
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro) rs730882234
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.4(MYO15A):c.10129dup (p.Ala3377fs) rs2142428987
NM_016239.4(MYO15A):c.10209delinsCCAGGCCCGTGCAGCTC (p.Gln3403fs) rs1057519601
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.10294_10308del (p.Pro3432_Ala3436del) rs2142430892
NM_016239.4(MYO15A):c.10351-15T>G
NM_016239.4(MYO15A):c.10360_10362del (p.Val3454del) rs2142436001
NM_016239.4(MYO15A):c.1101del (p.Tyr368fs) rs2142243946
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs) rs2142244867
NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter) rs1445431722
NM_016239.4(MYO15A):c.1971G>A (p.Trp657Ter) rs1567623176
NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter) rs767378045
NM_016239.4(MYO15A):c.2873del (p.Pro958fs) rs1217492313
NM_016239.4(MYO15A):c.3233G>A (p.Trp1078Ter) rs866595552
NM_016239.4(MYO15A):c.346_376del (p.Gly116fs) rs1597747826
NM_016239.4(MYO15A):c.3576G>A (p.Trp1192Ter)
NM_016239.4(MYO15A):c.3904del (p.Met1302fs) rs2142282007
NM_016239.4(MYO15A):c.3932T>C (p.Ile1311Thr) rs1057519603
NM_016239.4(MYO15A):c.4030C>T (p.Gln1344Ter) rs2142283941
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys) rs1060499798
NM_016239.4(MYO15A):c.4454T>C (p.Leu1485Pro) rs751973078
NM_016239.4(MYO15A):c.4482+2T>C rs2142307505
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter) rs779077039
NM_016239.4(MYO15A):c.4538C>T (p.Ala1513Val) rs2142315607
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter) rs1209665716
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) rs1567641234
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs) rs1555543836
NM_016239.4(MYO15A):c.5362T>G (p.Cys1788Gly) rs2142335605
NM_016239.4(MYO15A):c.5461del (p.Val1821fs) rs764867438
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu) rs752816535
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter) rs2142343642
NM_016239.4(MYO15A):c.5886C>A (p.Tyr1962Ter)
NM_016239.4(MYO15A):c.5941G>T (p.Gly1981Trp) rs1240409145
NM_016239.4(MYO15A):c.6045A>T (p.Ala2015=) rs2142347739
NM_016239.4(MYO15A):c.6177+1G>T rs751142446
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe) rs121908965
NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg) rs2142355107
NM_016239.4(MYO15A):c.6510-1G>T rs2142360420
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs) rs2142360575
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His) rs2046512154
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu)
NM_016239.4(MYO15A):c.6764+1G>T rs2046521710
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs) rs2142363190
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter) rs1330406146
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys) rs2045862543
NM_016239.4(MYO15A):c.7313dup (p.Glu2439fs)
NM_016239.4(MYO15A):c.7711_7712dup (p.Gln2571fs) rs1267868260
NM_016239.4(MYO15A):c.7771del (p.Arg2591fs) rs2142370684
NM_016239.4(MYO15A):c.8088+1G>A rs773461233
NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys) rs1288328459
NM_016239.4(MYO15A):c.8224+3A>G rs1057519605
NM_016239.4(MYO15A):c.8245_8246del (p.Gln2749fs) rs2142381103
NM_016239.4(MYO15A):c.8285_8308del (p.Val2762_Trp2769del) rs2142381306
NM_016239.4(MYO15A):c.8458A>C (p.Ser2820Arg) rs2142382400
NM_016239.4(MYO15A):c.8601+2T>G
NM_016239.4(MYO15A):c.8789-2A>G
NM_016239.4(MYO15A):c.8791del (p.Trp2931fs) rs2142388348
NM_016239.4(MYO15A):c.8828T>C (p.Phe2943Ser) rs2142388547
NM_016239.4(MYO15A):c.8910del (p.Val2971fs)
NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter) rs774312110
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter) rs1567658710
NM_016239.4(MYO15A):c.9084-1G>T rs1567658906
NM_016239.4(MYO15A):c.9341dup (p.Tyr3114Ter)
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs) rs2046752611
NM_016239.4(MYO15A):c.9443G>A (p.Cys3148Tyr)
NM_016239.4(MYO15A):c.9467T>C (p.Leu3156Pro) rs2046774616
NM_016239.4(MYO15A):c.9620G>T (p.Arg3207Leu) rs199621031
NM_016239.4(MYO15A):c.[5192T>C;823G>C]
NM_016356.5(DCDC2):c.426-2A>G rs2113838226
NM_016356.5(DCDC2):c.549dup (p.Val184fs) rs1581640646
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_016366.3(CABP2):c.482del (p.Phe161fs) rs368437370
NM_016366.3(CABP2):c.490-8C>A rs776117741
NM_016366.3(CABP2):c.60C>A (p.Leu20=)
NM_016929.5(CLIC5):c.644G>A (p.Trp215Ter) rs1043716893
NM_017433.5(MYO3A):c.2636-1G>T rs1564602202
NM_017433.5(MYO3A):c.3093G>A (p.Trp1031Ter) rs2131991331
NM_017433.5(MYO3A):c.3383del (p.Asn1128fs)
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) rs752046945
NM_018006.5(TRMU):c.1019-1G>A rs773484808
NM_018006.5(TRMU):c.1019-2_1023del
NM_018006.5(TRMU):c.1028_1029del (p.Val343fs)
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.1101+1G>A
NM_018006.5(TRMU):c.1102-22_1130del
NM_018006.5(TRMU):c.1103_1109del
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu) rs774047684
NM_018006.5(TRMU):c.177_178del (p.Arg59fs)
NM_018006.5(TRMU):c.231T>A (p.Tyr77Ter)
NM_018006.5(TRMU):c.248+1G>T
NM_018006.5(TRMU):c.249-2A>C
NM_018006.5(TRMU):c.260_263del (p.Asn87fs)
NM_018006.5(TRMU):c.333dup (p.His112fs) rs756600903
NM_018006.5(TRMU):c.355+1G>C rs1407825579
NM_018006.5(TRMU):c.355+1G>T
NM_018006.5(TRMU):c.356-2_356-1del rs2147053913
NM_018006.5(TRMU):c.356-2del
NM_018006.5(TRMU):c.380dup (p.His127fs)
NM_018006.5(TRMU):c.397del (p.Leu133fs)
NM_018006.5(TRMU):c.416_417del (p.Val138_Phe139insTer)
NM_018006.5(TRMU):c.428_459dup (p.Arg154fs) rs2147054656
NM_018006.5(TRMU):c.458del (p.Asn153fs)
NM_018006.5(TRMU):c.478+1G>A rs1569072157
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del) rs762710723
NM_018006.5(TRMU):c.544C>T (p.Gln182Ter)
NM_018006.5(TRMU):c.575dup (p.Leu195fs)
NM_018006.5(TRMU):c.581del (p.Gly194fs) rs763926467
NM_018006.5(TRMU):c.581dup (p.Leu195fs)
NM_018006.5(TRMU):c.591del (p.Glu198fs)
NM_018006.5(TRMU):c.5_27dup (p.Ala10fs)
NM_018006.5(TRMU):c.652-2A>G
NM_018006.5(TRMU):c.660dup (p.Met221fs)
NM_018006.5(TRMU):c.703C>T (p.Gln235Ter) rs1800386420
NM_018006.5(TRMU):c.706-2A>G
NM_018006.5(TRMU):c.737_738insT (p.Ile247fs)
NM_018006.5(TRMU):c.772+2T>G rs2147096093
NM_018006.5(TRMU):c.777G>A (p.Trp259Ter)
NM_018006.5(TRMU):c.824_825del (p.Glu275fs)
NM_018006.5(TRMU):c.824_825dup (p.Pro276fs) rs1191230933
NM_018006.5(TRMU):c.830G>A (p.Trp277Ter)
NM_018006.5(TRMU):c.867_868del (p.Phe290fs)
NM_018006.5(TRMU):c.872_873del (p.Val291fs)
NM_018006.5(TRMU):c.873+2T>G
NM_018006.5(TRMU):c.874-1G>C
NM_018006.5(TRMU):c.874-2A>G
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter) rs769668643
NM_018006.5(TRMU):c.880del (p.Arg294fs) rs1490906786
NM_018006.5(TRMU):c.882del (p.Thr295fs)
NM_018006.5(TRMU):c.903C>A (p.Tyr301Ter)
NM_018006.5(TRMU):c.925del (p.Arg309fs)
NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del) rs746982385
NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup) rs773682747
NM_020982.4(CLDN9):c.500dup (p.Trp168fs) rs1567404609
NM_021625.5(TRPV4):c.1596G>T (p.Leu532Phe)
NM_021830.5(TWNK):c.1217G>A (p.Arg406Gln)
NM_021830.5(TWNK):c.1388G>A (p.Arg463Gln)
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) rs1060499791
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser) rs1060499792
NM_022124.6(CDH23):c.1986+3A>T rs2132682822
NM_022124.6(CDH23):c.2334G>A (p.Trp778Ter) rs868188730
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly) rs2132740263
NM_022124.6(CDH23):c.2956del (p.Leu986fs) rs2132745856
NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys) rs2132751512
NM_022124.6(CDH23):c.3215C>A (p.Ala1072Asp) rs2132751525
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) rs397517323
NM_022124.6(CDH23):c.3579+2T>C rs1385831846
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) rs121908350
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022124.6(CDH23):c.478del (p.Asp160fs) rs2132358279
NM_022124.6(CDH23):c.5149T>C (p.Cys1717Arg) rs552998089
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.6049+1G>A rs111033247
NM_022124.6(CDH23):c.6067_6070dup (p.Gly2024fs) rs1564795354
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) rs762118583
NM_022124.6(CDH23):c.6379G>T (p.Val2127Phe) rs765026901
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp) rs2132954257
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.683A>T (p.Asp228Val) rs1060499788
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_022124.6(CDH23):c.6965A>T (p.Asp2322Val)
NM_022124.6(CDH23):c.6992T>C (p.Val2331Ala) rs2132965891
NM_022124.6(CDH23):c.7826C>T (p.Pro2609Leu)
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) rs774559018
NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter) rs1564803868
NM_022124.6(CDH23):c.8140G>T (p.Asp2714Tyr) rs2132985083
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) rs1060499790
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser) rs397517356
NM_022124.6(CDH23):c.833G>A (p.Gly278Glu) rs1861130719
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs) rs1564805114
NM_022124.6(CDH23):c.8377C>T (p.Arg2793Trp)
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg) rs767343063
NM_024063.3(AFG2B):c.[213T>G;1313T>C]
NM_024417.5(FDXR):c.623C>T (p.Thr208Met)
NM_024678.6(NARS2):c.1339A>G (p.Met447Val) rs953849956
NM_024678.6(NARS2):c.637G>T (p.Val213Phe) rs756725793
NM_024678.6(NARS2):c.727C>T (p.Arg243Ter) rs952741388
NM_031475.3(ESPN):c.1972G>A (p.Glu658Lys)
NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter) rs1485674839
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer) rs754472294
NM_031475.3(ESPN):c.2539AAG[1] (p.Lys848del) rs1569771486
NM_032119.4(ADGRV1):c.1477C>T (p.Arg493Ter) rs779948710
NM_032119.4(ADGRV1):c.16368G>C (p.Lys5456Asn) rs2150302151
NM_033056.4(PCDH15):c.4389del (p.Gln1464fs) rs35296328
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer) rs1233449433
NM_033109.5(PNPT1):c.137C>G (p.Ala46Gly) rs540498342
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033409.4(SLC52A3):c.704T>C (p.Leu235Pro)
NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp) rs145498634
NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs) rs1583335192
NM_080680.3(COL11A2):c.2754del (p.Gly919fs) rs1562336726
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg) rs550153707
NM_080680.3(COL11A2):c.3852+1G>T
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter) rs1404134749
NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val) rs745434198
NM_080680.3(COL11A2):c.968dup (p.Ala324fs) rs1583366400
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1498C>G (p.Arg500Gly)
NM_130837.3(OPA1):c.2803_2807del (p.Phe935fs)
NM_133261.3(GIPC3):c.3_594del (p.Met1fs)
NM_133261.3(GIPC3):c.937T>C (p.Ter313Gln) rs1466835034
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter) rs757327146
NM_138691.3(TMC1):c.1209G>A (p.Trp403Ter) rs773851192
NM_138691.3(TMC1):c.1224+2T>C rs1564555240
NM_138691.3(TMC1):c.1259G>A (p.Cys420Tyr) rs1564556995
NM_138691.3(TMC1):c.1363T>C (p.Tyr455His) rs1828278868
NM_138691.3(TMC1):c.1532C>A (p.Pro511His) rs727503483
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.3(TMC1):c.1728C>G (p.Asn576Lys) rs761261855
NM_138691.3(TMC1):c.1750C>T (p.Gln584Ter)
NM_138691.3(TMC1):c.1753_1754insA (p.Gly585fs) rs1828785763
NM_138691.3(TMC1):c.1763+1G>T rs2118284330
NM_138691.3(TMC1):c.1788C>A (p.Ser596Arg) rs1290684098
NM_138691.3(TMC1):c.2002A>G (p.Ser668Gly) rs1828864557
NM_138691.3(TMC1):c.2035G>A (p.Glu679Lys) rs1828965654
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile) rs756960425
NM_138691.3(TMC1):c.64+2T>A
NM_138691.3(TMC1):c.945G>A (p.Trp315Ter) rs1564554255
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr) rs1952754017
NM_144670.6(A2ML1):c.10C>T (p.Gln4Ter) rs1409944554
NM_144670.6(A2ML1):c.4061+1G>C rs202067416
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu) rs727504599
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs) rs2141700836
NM_144672.4(OTOA):c.1633_1634del (p.Leu545fs)
NM_144672.4(OTOA):c.1881-2A>G rs2141716542
NM_144672.4(OTOA):c.1912C>T (p.Gln638Ter) rs1898923522
NM_144672.4(OTOA):c.2295del (p.Thr766fs) rs774366025
NM_144672.4(OTOA):c.2301+1G>T rs1567396832
NM_144672.4(OTOA):c.2352del (p.Thr785fs)
NM_144672.4(OTOA):c.2991A>C (p.Glu997Asp)
NM_144672.4(OTOA):c.562_569dup (p.Phe191fs)
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
NM_144672.4(OTOA):c.875A>G (p.Lys292Arg)
NM_147196.3(TMIE):c.122_125dup (p.Pro43fs) rs876661301
NM_147196.3(TMIE):c.92A>G (p.Glu31Gly) rs1057517839
NM_153002.3(GPR156):c.1863dup (p.His622fs)
NM_153002.3(GPR156):c.600G>A (p.Thr200=)
NM_153676.4(USH1C):c.1000C>T (p.Gln334Ter)
NM_153676.4(USH1C):c.1018C>T (p.Gln340Ter)
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1039del (p.Gln347fs)
NM_153676.4(USH1C):c.104+5G>C rs2133927984
NM_153676.4(USH1C):c.105-2A>G
NM_153676.4(USH1C):c.1086-1G>T
NM_153676.4(USH1C):c.1094_1101dup (p.Glu368fs)
NM_153676.4(USH1C):c.1096del (p.Glu366fs)
NM_153676.4(USH1C):c.110_113del (p.Met37fs)
NM_153676.4(USH1C):c.1121G>A (p.Trp374Ter)
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter) rs1591999307
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_153676.4(USH1C):c.2185-1G>A
NM_153676.4(USH1C):c.2185-2A>G rs1358056232
NM_153676.4(USH1C):c.2280+2T>C rs1554954681
NM_153676.4(USH1C):c.2281-1G>A rs1554954574
NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer) rs1591961566
NM_153676.4(USH1C):c.2381-2A>G rs1465352266
NM_153676.4(USH1C):c.2381-7_2381del
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter) rs371257969
NM_153676.4(USH1C):c.2420del (p.Gly807fs)
NM_153676.4(USH1C):c.249-1G>A
NM_153676.4(USH1C):c.2490+1G>T rs1554953746
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2490+2T>C rs1554953745
NM_153676.4(USH1C):c.2520C>A (p.Cys840Ter)
NM_153676.4(USH1C):c.2535T>A (p.Tyr845Ter)
NM_153676.4(USH1C):c.2546+1G>A
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.356_365del (p.Lys119fs)
NM_153676.4(USH1C):c.36+1G>A rs1403777293
NM_153676.4(USH1C):c.37-1G>C
NM_153676.4(USH1C):c.388-1G>A rs1364331716
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763
NM_153676.4(USH1C):c.541del (p.Thr181fs)
NM_153676.4(USH1C):c.579+1G>A
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+1del rs1554961872
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.70del (p.Asp24fs)
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.769C>T (p.Gln257Ter)
NM_153676.4(USH1C):c.819+1G>A rs1554961152
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.877-2A>G
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)
NM_153700.2(STRC):c.1469T>C (p.Leu490Pro)
NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.4564G>T (p.Gly1522Ter) rs763904943
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_153700.2(STRC):c.64+1_3138+1del
NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp) rs730882203
NM_173477.5(USH1G):c.314C>T (p.Ala105Val) rs1567940507
NM_173477.5(USH1G):c.812del (p.Pro271fs) rs1567939793
NM_173477.5(USH1G):c.854dup (p.Ala286fs) rs1567939718
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_174916.3(UBR1):c.1539+2T>G rs2033511910
NM_174916.3(UBR1):c.1912-6T>G rs1131691523
NM_174916.3(UBR1):c.4745del (p.Asn1582fs)
NM_174916.3(UBR1):c.529-13G>A rs1265375100
NM_177398.4(LMX1A):c.331del (p.Gln111fs) rs2102637875
NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter)
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val) rs1060499810
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer) rs779841884
NM_182548.4(LHFPL5):c.504C>G (p.Tyr168Ter) rs1389821363
NM_194248.2(OTOF):c.[3928_3930dupAAG];[5098G>C]
NM_194248.3(OTOF):c.1172del (p.Lys391fs) rs483353050
NM_194248.3(OTOF):c.1432T>C (p.Trp478Arg)
NM_194248.3(OTOF):c.1493A>C (p.Gln498Pro)
NM_194248.3(OTOF):c.1535C>T (p.Thr512Ile)
NM_194248.3(OTOF):c.1539_1554del (p.His513fs)
NM_194248.3(OTOF):c.153_159del (p.Val52fs)
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro) rs1558490542
NM_194248.3(OTOF):c.1804-2A>G rs2148056311
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp) rs1558488902
NM_194248.3(OTOF):c.1912+5G>C rs2148056188
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2214+5G>C
NM_194248.3(OTOF):c.2215-1G>C
NM_194248.3(OTOF):c.2406+2dup rs2148051770
NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup) rs2148050495
NM_194248.3(OTOF):c.2656del (p.Val886fs)
NM_194248.3(OTOF):c.2677-2A>G rs1057518840
NM_194248.3(OTOF):c.2688del (p.Lys896fs)
NM_194248.3(OTOF):c.2781C>A (p.Cys927Ter)
NM_194248.3(OTOF):c.2901C>G (p.Tyr967Ter)
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) rs1423777622
NM_194248.3(OTOF):c.3179_3183dup (p.Glu1062fs) rs773708510
NM_194248.3(OTOF):c.3321dup (p.Ile1108fs)
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs) rs1558480402
NM_194248.3(OTOF):c.3409-2A>C rs201613240
NM_194248.3(OTOF):c.3674C>G (p.Ser1225Cys)
NM_194248.3(OTOF):c.4228-1G>T
NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs) rs1558472243
NM_194248.3(OTOF):c.4493T>A (p.Val1498Glu)
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
NM_194248.3(OTOF):c.4791del (p.Tyr1598fs)
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) rs143939430
NM_194248.3(OTOF):c.4847T>C (p.Leu1616Pro)
NM_194248.3(OTOF):c.4903A>T (p.Arg1635Ter)
NM_194248.3(OTOF):c.5000C>A (p.Ala1667Asp)
NM_194248.3(OTOF):c.5104-1G>T rs2148023761
NM_194248.3(OTOF):c.5108_5114delinsTCTTCCTGGG (p.Arg1703_Glu1705delinsLeuPheLeuGly) rs2148023717
NM_194248.3(OTOF):c.5169_5170del (p.Ile1724fs)
NM_194248.3(OTOF):c.5179del (p.Arg1727fs) rs1664580718
NM_194248.3(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del) rs2148021052
NM_194248.3(OTOF):c.5291+1G>T
NM_194248.3(OTOF):c.5330A>G (p.Asp1777Gly)
NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp) rs2148020419
NM_194248.3(OTOF):c.5534-2A>G rs1664440809
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp) rs2148018483
NM_194248.3(OTOF):c.5666G>C (p.Trp1889Ser)
NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter)
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val) rs1558464965
NM_194248.3(OTOF):c.5780C>A (p.Ala1927Asp)
NM_194248.3(OTOF):c.5782C>T (p.Arg1928Cys)
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.669del (p.Ala224fs) rs2148078546
NM_194248.3(OTOF):c.764A>C (p.Gln255Pro)
NM_194248.3(OTOF):c.897+1G>T rs483353049
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359
NM_198999.3(SLC26A5):c.2146del (p.Arg716fs)
NM_199280.4(TOGARAM2):c.1543C>T (p.Gln515Ter)
NM_206933.4(USH2A):c.10724G>T (p.Cys3575Phe)
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter) rs767797828
NM_206933.4(USH2A):c.4945G>C (p.Gly1649Arg)
NM_206933.4(USH2A):c.7120+1475A>G
NM_207034.3(EDN3):c.293C>T (p.Thr98Met) rs745795470

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