ClinVar Miner

List of variants studied for auditory system disorder by Baylor Genetics

Included ClinVar conditions (345):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 908
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00230
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00108
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) rs189255177 0.00105
NM_001379180.1(ESRRB):c.*1546C>T rs201448899 0.00087
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln) rs727503449 0.00085
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00083
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu) rs200313246 0.00067
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00065
NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val) rs199740747 0.00063
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) rs201618718 0.00063
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00060
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00058
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile) rs140220538 0.00057
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00050
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly) rs545257884 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_021116.4(ADCY1):c.2161A>G (p.Thr721Ala) rs74535389 0.00043
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00042
NM_001378609.3(OTOGL):c.1395-3T>C rs374833540 0.00039
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00037
NM_000245.4(MET):c.901A>G (p.Thr301Ala) rs201687037 0.00036
NM_016239.4(MYO15A):c.4153T>G (p.Ser1385Ala) rs201246214 0.00036
NM_016239.4(MYO15A):c.4976G>A (p.Arg1659Gln) rs141473928 0.00035
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00034
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) rs149843729 0.00034
NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu) rs186644871 0.00031
NM_001292063.2(OTOG):c.5480C>T (p.Ser1827Phe) rs557079751 0.00031
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg) rs142596580 0.00029
NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg) rs200392453 0.00028
NM_001292063.2(OTOG):c.7658G>C (p.Arg2553Pro) rs563003848 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile) rs377156351 0.00024
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00023
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val) rs200249886 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_170682.4(P2RX2):c.381+2T>C rs200978001 0.00022
NM_001145809.2(MYH14):c.1994C>T (p.Ser665Leu) rs373698416 0.00021
NM_144991.3(TSPEAR):c.1856+19C>T rs182590005 0.00020
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00019
NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser) rs201693690 0.00019
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_022124.6(CDH23):c.68-3C>T rs142456469 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_018429.3(BDP1):c.2804G>T (p.Arg935Ile) rs200898204 0.00017
NM_174916.3(UBR1):c.947G>A (p.Arg316His) rs147396426 0.00017
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_000245.4(MET):c.1771C>T (p.Arg591Trp) rs45602940 0.00015
NM_000245.4(MET):c.40C>T (p.Leu14Phe) rs763344951 0.00015
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00015
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00015
NM_024009.3(GJB3):c.316C>T (p.Arg106Cys) rs147106166 0.00015
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_001384474.1(LOXHD1):c.5822C>T (p.Pro1941Leu) rs958951917 0.00013
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_000245.4(MET):c.289C>G (p.Pro97Ala) rs199736573 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_001292063.2(OTOG):c.7057C>T (p.Arg2353Cys) rs184461956 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00010
NM_003672.4(CDC14A):c.1251-5C>T rs375381230 0.00010
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000245.4(MET):c.2378G>A (p.Arg793His) rs199643166 0.00009
NM_000245.4(MET):c.3236A>G (p.His1079Arg) rs758292223 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_000245.4(MET):c.2543T>C (p.Val848Ala) rs587782205 0.00008
NM_000245.4(MET):c.280G>C (p.Asp94His) rs899151863 0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00008
NM_001199799.2(ILDR1):c.1312C>T (p.Pro438Ser) rs554966703 0.00008
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys) rs746724027 0.00008
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00007
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455 0.00007
NM_002160.4(TNC):c.2239C>T (p.Arg747Trp) rs776411890 0.00007
NM_002160.4(TNC):c.2960C>T (p.Thr987Met) rs778506429 0.00007
NM_004447.6(EPS8):c.871G>T (p.Ala291Ser) rs202097537 0.00007
NM_144672.4(OTOA):c.268-677G>A rs931046043 0.00007
NM_000245.4(MET):c.22G>A (p.Ala8Thr) rs758564871 0.00006
NM_000245.4(MET):c.4075G>A (p.Val1359Ile) rs752669237 0.00006
NM_000245.4(MET):c.818C>A (p.Thr273Asn) rs368144654 0.00006
NM_000260.4(MYO7A):c.6421A>G (p.Ile2141Val) rs761164010 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_001379180.1(ESRRB):c.*1604G>A rs371116651 0.00006
NM_003672.4(CDC14A):c.1745G>A (p.Arg582His) rs148639495 0.00006
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln) rs769596933 0.00006
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_138691.3(TMC1):c.339G>A (p.Met113Ile) rs397517840 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00005
NM_000245.4(MET):c.105G>C (p.Met35Ile) rs376244358 0.00005
NM_000245.4(MET):c.1063G>A (p.Glu355Lys) rs561295443 0.00005
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000245.4(MET):c.2674G>A (p.Val892Ile) rs761243391 0.00005
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00005
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00005
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs) rs1421964916 0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256 0.00005
NM_001039141.3(TRIOBP):c.1195C>G (p.Arg399Gly) rs750078356 0.00005
NM_001292063.2(OTOG):c.7090G>A (p.Asp2364Asn) rs534951317 0.00005
NM_002700.3(POU4F3):c.295C>T (p.His99Tyr) rs756195567 0.00005
NM_022124.6(CDH23):c.5113G>A (p.Gly1705Ser) rs373164088 0.00005
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00005
NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe) rs150834957 0.00005
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00005
NM_000245.4(MET):c.1132G>A (p.Val378Ile) rs749738523 0.00004
NM_000245.4(MET):c.142G>A (p.Ala48Thr) rs374050750 0.00004
NM_000245.4(MET):c.1984A>G (p.Ile662Val) rs765244598 0.00004
NM_000245.4(MET):c.2113A>G (p.Ser705Gly) rs781110968 0.00004
NM_000245.4(MET):c.2342A>C (p.Glu781Ala) rs771231484 0.00004
NM_000245.4(MET):c.2825C>T (p.Ser942Leu) rs375576430 0.00004
NM_000245.4(MET):c.2909G>A (p.Arg970His) rs45607832 0.00004
NM_000245.4(MET):c.3118T>C (p.Ser1040Pro) rs771328219 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.279del (p.Ser93fs) rs786204421 0.00004
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937 0.00004
NM_024678.6(NARS2):c.844G>A (p.Ala282Thr) rs146900529 0.00004
NM_153676.4(USH1C):c.760-1G>T rs1187887456 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_000245.4(MET):c.1408T>A (p.Ser470Thr) rs1484724510 0.00003
NM_000245.4(MET):c.1510G>T (p.Val504Phe) rs587780735 0.00003
NM_000245.4(MET):c.1810C>G (p.Leu604Val) rs201861645 0.00003
NM_000245.4(MET):c.2325G>T (p.Met775Ile) rs748086754 0.00003
NM_000245.4(MET):c.2755G>A (p.Val919Ile) rs759522148 0.00003
NM_000245.4(MET):c.3221G>A (p.Ser1074Asn) rs752641437 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_000245.4(MET):c.341A>T (p.Asp114Val) rs773659883 0.00003
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln) rs369312680 0.00003
NM_000245.4(MET):c.4016C>T (p.Ala1339Val) rs1453842331 0.00003
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) rs768188910 0.00003
NM_000245.4(MET):c.762A>C (p.Glu254Asp) rs760278126 0.00003
NM_000245.4(MET):c.788C>T (p.Thr263Met) rs764052874 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.2089+1G>A rs727503430 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_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter) rs979094623 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_005422.4(TECTA):c.5515G>A (p.Gly1839Ser) rs376271495 0.00003
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys) rs200528166 0.00003
NM_015205.3(ATP11A):c.80A>G (p.Tyr27Cys) rs200309535 0.00003
NM_031475.3(ESPN):c.1426A>C (p.Lys476Gln) rs552715518 0.00003
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_000245.4(MET):c.1081G>T (p.Ala361Ser) rs786202310 0.00002
NM_000245.4(MET):c.1234C>T (p.Arg412Cys) rs367628460 0.00002
NM_000245.4(MET):c.13G>A (p.Ala5Thr) rs765444467 0.00002
NM_000245.4(MET):c.1532C>T (p.Thr511Met) rs371124109 0.00002
NM_000245.4(MET):c.1636G>A (p.Val546Met) rs774462373 0.00002
NM_000245.4(MET):c.2377C>T (p.Arg793Cys) rs45440991 0.00002
NM_000245.4(MET):c.2455G>A (p.Ala819Thr) rs786203672 0.00002
NM_000245.4(MET):c.2723A>G (p.Asn908Ser) rs1478309975 0.00002
NM_000245.4(MET):c.3199C>A (p.Gln1067Lys) rs45628136 0.00002
NM_000245.4(MET):c.3880G>A (p.Val1294Ile) rs1263785859 0.00002
NM_000245.4(MET):c.4011A>G (p.Ile1337Met) rs376418811 0.00002
NM_000245.4(MET):c.743A>T (p.Lys248Met) rs769181927 0.00002
NM_000245.4(MET):c.799G>A (p.Glu267Lys) rs755954919 0.00002
NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln) rs782410686 0.00002
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 0.00002
NM_000441.2(SLC26A4):c.1341+1G>C rs376653349 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.165-1G>A rs759792660 0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176 0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540 0.00002
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00002
NM_001145809.2(MYH14):c.491G>C (p.Gly164Ala) rs774773452 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001304438.2(TMEM132E):c.2730C>G (p.Ile910Met) rs763524517 0.00002
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004526.4(MCM2):c.1447C>T (p.Pro483Ser) rs767616299 0.00002
NM_004700.4(KCNQ4):c.1565C>T (p.Thr522Met) rs748693577 0.00002
NM_012478.4(WBP2):c.466C>G (p.Pro156Ala) rs773715692 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.680G>C (p.Arg227Thr) rs764622793 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.7706G>A (p.Arg2569Gln) rs769627991 0.00002
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys) rs763119683 0.00002
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg) rs1318691269 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_000245.4(MET):c.1250G>A (p.Arg417Gln) rs2116780504 0.00001
NM_000245.4(MET):c.1406G>A (p.Arg469Gln) rs752842662 0.00001
NM_000245.4(MET):c.143C>G (p.Ala48Gly) rs80256822 0.00001
NM_000245.4(MET):c.1450C>T (p.His484Tyr) rs771272439 0.00001
NM_000245.4(MET):c.1451A>G (p.His484Arg) rs781545528 0.00001
NM_000245.4(MET):c.146A>G (p.Glu49Gly) rs370499060 0.00001
NM_000245.4(MET):c.1472T>C (p.Ile491Thr) rs561588772 0.00001
NM_000245.4(MET):c.1477G>C (p.Glu493Gln) rs965319455 0.00001
NM_000245.4(MET):c.1484C>G (p.Thr495Arg) rs45585831 0.00001
NM_000245.4(MET):c.1610A>G (p.Gln537Arg) rs2116835879 0.00001
NM_000245.4(MET):c.1627G>A (p.Asp543Asn) rs763991073 0.00001
NM_000245.4(MET):c.1772G>A (p.Arg591Gln) rs775965879 0.00001
NM_000245.4(MET):c.1786T>A (p.Phe596Ile) rs879254332 0.00001
NM_000245.4(MET):c.1858A>G (p.Asn620Asp) rs372116735 0.00001
NM_000245.4(MET):c.200C>A (p.Thr67Asn) rs200023903 0.00001
NM_000245.4(MET):c.2128T>C (p.Tyr710His) rs1794273981 0.00001
NM_000245.4(MET):c.215T>C (p.Val72Ala) rs973796037 0.00001
NM_000245.4(MET):c.2278A>G (p.Ile760Val) rs786202191 0.00001
NM_000245.4(MET):c.230A>C (p.Asp77Ala) rs761221409 0.00001
NM_000245.4(MET):c.2333A>C (p.Asn778Thr) rs1205392044 0.00001
NM_000245.4(MET):c.2362G>A (p.Val788Met) rs1489302008 0.00001
NM_000245.4(MET):c.2432T>A (p.Leu811Gln) rs1554396554 0.00001
NM_000245.4(MET):c.2440C>A (p.Pro814Thr) rs1052270861 0.00001
NM_000245.4(MET):c.2471A>G (p.Asp824Gly) rs1446482547 0.00001
NM_000245.4(MET):c.2528C>G (p.Pro843Arg) rs762228405 0.00001
NM_000245.4(MET):c.2547G>C (p.Met849Ile) rs747989932 0.00001
NM_000245.4(MET):c.2677T>A (p.Leu893Ile) rs376104371 0.00001
NM_000245.4(MET):c.2698C>G (p.Leu900Val) rs1398243931 0.00001
NM_000245.4(MET):c.2710A>T (p.Asn904Tyr) rs1313347428 0.00001
NM_000245.4(MET):c.2795C>T (p.Thr932Ile) rs758486777 0.00001
NM_000245.4(MET):c.2802G>C (p.Leu934Phe) rs1361155132 0.00001
NM_000245.4(MET):c.3107C>T (p.Thr1036Ile) rs758440368 0.00001
NM_000245.4(MET):c.3151G>C (p.Val1051Leu) rs775997318 0.00001
NM_000245.4(MET):c.3208G>A (p.Val1070Met) rs760285693 0.00001
NM_000245.4(MET):c.3377C>A (p.Thr1126Asn) rs367634278 0.00001
NM_000245.4(MET):c.3422C>T (p.Ser1141Leu) rs375395179 0.00001
NM_000245.4(MET):c.3443G>A (p.Arg1148Gln) rs761808213 0.00001
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) rs369838973 0.00001
NM_000245.4(MET):c.356C>T (p.Ala119Val) rs904162290 0.00001
NM_000245.4(MET):c.3586G>A (p.Ala1196Thr) rs970206545 0.00001
NM_000245.4(MET):c.38T>C (p.Val13Ala) rs748776466 0.00001
NM_000245.4(MET):c.3973G>A (p.Glu1325Lys) rs587778444 0.00001
NM_000245.4(MET):c.3983C>T (p.Pro1328Leu) rs755043272 0.00001
NM_000245.4(MET):c.3997C>G (p.Leu1333Val) rs758738756 0.00001
NM_000245.4(MET):c.4060G>A (p.Ala1354Thr) rs761522694 0.00001
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr) rs758486336 0.00001
NM_000245.4(MET):c.4154C>A (p.Ser1385Tyr) rs764303128 0.00001
NM_000245.4(MET):c.62G>A (p.Arg21Lys) rs964356368 0.00001
NM_000245.4(MET):c.65G>T (p.Ser22Ile) rs587780739 0.00001
NM_000245.4(MET):c.689C>T (p.Thr230Met) rs587780740 0.00001
NM_000245.4(MET):c.704T>C (p.Ile235Thr) rs1060503530 0.00001
NM_000245.4(MET):c.716C>T (p.Pro239Leu) rs45551737 0.00001
NM_000245.4(MET):c.808G>C (p.Asp270His) rs1060503542 0.00001
NM_000245.4(MET):c.821T>C (p.Phe274Ser) rs758569834 0.00001
NM_000245.4(MET):c.839G>C (p.Arg280Thr) rs770528254 0.00001
NM_000245.4(MET):c.840G>T (p.Arg280Ser) rs1207381066 0.00001
NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His) rs1241956038 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1150-1G>A rs1791525285 0.00001
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855 0.00001
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 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.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.164+2T>C rs397516420 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956 0.00001
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter) rs111033200 0.00001
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=) rs760352870 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.1984dup (p.Cys662fs) rs1271700356 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.2034+1G>T rs759683649 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) rs1045933779 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.349del (p.Leu117fs) rs1275009555 0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427 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.706C>G (p.Leu236Val) rs111033242 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000601.6(HGF):c.6G>T (p.Trp2Cys) rs745851853 0.00001
NM_001039213.4(CEACAM16):c.245C>T (p.Thr82Met) rs776527204 0.00001
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter) rs774844858 0.00001
NM_001145809.2(MYH14):c.2839C>T (p.Arg947Cys) rs757658628 0.00001
NM_001195263.2(PDZD7):c.1750-2A>G rs747536638 0.00001
NM_001292063.2(OTOG):c.1148A>G (p.Tyr383Cys) rs1007369140 0.00001
NM_001292063.2(OTOG):c.5696C>A (p.Ser1899Tyr) rs894980888 0.00001
NM_001292063.2(OTOG):c.6334G>A (p.Asp2112Asn) rs1314382019 0.00001
NM_001292063.2(OTOG):c.7121G>A (p.Cys2374Tyr) rs1017790030 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.3931C>T (p.His1311Tyr) rs1230531336 0.00001
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309 0.00001
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter) rs1264383341 0.00001
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.2630T>A (p.Leu877Ter) rs2092876200 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 0.00001
NM_001384140.1(PCDH15):c.3373+1G>A rs2085799827 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 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.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter) rs779165268 0.00001
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_001384140.1(PCDH15):c.571del (p.Ile191fs) rs1480320128 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859 0.00001
NM_001384474.1(LOXHD1):c.5656T>A (p.Ser1886Thr) rs1433984656 0.00001
NM_001854.4(COL11A1):c.4859G>A (p.Gly1620Asp) rs1650496598 0.00001
NM_002160.4(TNC):c.1580G>C (p.Cys527Ser) rs746843738 0.00001
NM_002473.6(MYH9):c.4564G>A (p.Glu1522Lys) rs2016637668 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004526.4(MCM2):c.1231G>A (p.Glu411Lys) rs373695678 0.00001
NM_004839.4(HOMER2):c.130A>G (p.Ser44Gly) rs1308445013 0.00001
NM_005422.4(TECTA):c.4494C>A (p.Phe1498Leu) rs374996667 0.00001
NM_005709.4(USH1C):c.1211-3_1232del rs1246699436 0.00001
NM_016239.4(MYO15A):c.2452C>A (p.Arg818Ser) rs1424289379 0.00001
NM_016239.4(MYO15A):c.5962G>A (p.Glu1988Lys) rs749019041 0.00001
NM_016239.4(MYO15A):c.8812G>A (p.Gly2938Arg) rs780884451 0.00001
NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp) rs776415168 0.00001
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter) rs1174791046 0.00001
NM_018006.5(TRMU):c.4C>T (p.Gln2Ter) rs1464059546 0.00001
NM_018006.5(TRMU):c.692_705dup (p.Tyr236fs) rs755646665 0.00001
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter) rs367683258 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.1847A>G (p.Glu616Gly) rs763577236 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022772.4(EPS8L2):c.206C>T (p.Thr69Met) rs1481107650 0.00001
NM_022772.4(EPS8L2):c.779A>G (p.Asn260Ser) rs940188070 0.00001
NM_025257.3(SLC44A4):c.997C>T (p.Arg333Trp) rs751632783 0.00001
NM_033109.5(PNPT1):c.2106G>C (p.Met702Ile) rs148804101 0.00001
NM_080680.3(COL11A2):c.1510C>T (p.Pro504Ser) rs765609390 0.00001
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00001
NM_144672.4(OTOA):c.1049T>C (p.Leu350Pro) rs1429567593 0.00001
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp) rs28941781 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.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.249-1G>A rs1850962546 0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509 0.00001
NM_153676.4(USH1C):c.375del (p.Ser125fs) rs756032457 0.00001
NM_153676.4(USH1C):c.387+1G>A rs1850950786 0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777 0.00001
NM_153676.4(USH1C):c.497-2del rs1480243085 0.00001
NM_153676.4(USH1C):c.586C>T (p.Arg196Ter) rs1290295453 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_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370 0.00001
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn) rs774929350 0.00001
NM_198999.3(SLC26A5):c.92G>C (p.Arg31Thr) rs1346488074 0.00001
GRCh37/hg19 15q15.3(chr15:43890409-43939642)
GRCh37/hg19 15q15.3(chr15:43891364-43939659)
NM_000245.4(MET):c.1008C>G (p.Ser336Arg) rs1584878137
NM_000245.4(MET):c.1046G>A (p.Ser349Asn) rs1584878246
NM_000245.4(MET):c.1056T>G (p.Asp352Glu) rs2116604421
NM_000245.4(MET):c.105G>T (p.Met35Ile) rs376244358
NM_000245.4(MET):c.1063G>C (p.Glu355Gln) rs561295443
NM_000245.4(MET):c.1090G>A (p.Ala364Thr) rs200016433
NM_000245.4(MET):c.1114G>A (p.Asp372Asn) rs773200558
NM_000245.4(MET):c.1136A>G (p.Asn379Ser) rs1320718414
NM_000245.4(MET):c.1174C>A (p.Pro392Thr) rs886061943
NM_000245.4(MET):c.1268C>A (p.Ala423Asp) rs2116781001
NM_000245.4(MET):c.1312C>G (p.Leu438Val) rs587780733
NM_000245.4(MET):c.1330A>G (p.Thr444Ala) rs2116782829
NM_000245.4(MET):c.1347C>A (p.Asp449Glu) rs2116783251
NM_000245.4(MET):c.135C>G (p.Asn45Lys) rs1562883006
NM_000245.4(MET):c.1363C>A (p.Leu455Ile) rs780077898
NM_000245.4(MET):c.1388T>C (p.Met463Thr) rs1584914382
NM_000245.4(MET):c.1421C>A (p.Thr474Asn) rs1554390902
NM_000245.4(MET):c.1427A>T (p.His476Leu) rs2485637914
NM_000245.4(MET):c.1430T>A (p.Val477Glu) rs1197127761
NM_000245.4(MET):c.1459T>A (p.Ser487Thr) rs1584922045
NM_000245.4(MET):c.146A>C (p.Glu49Ala) rs370499060
NM_000245.4(MET):c.1568T>C (p.Phe523Ser) rs1793420216
NM_000245.4(MET):c.1597C>A (p.Pro533Thr) rs1793422040
NM_000245.4(MET):c.16G>T (p.Val6Leu) rs1395233386
NM_000245.4(MET):c.1789G>C (p.Asp597His) rs769073123
NM_000245.4(MET):c.1789G>T (p.Asp597Tyr) rs769073123
NM_000245.4(MET):c.1801A>G (p.Thr601Ala) rs1216005099
NM_000245.4(MET):c.181C>G (p.His61Asp) rs368942722
NM_000245.4(MET):c.184A>G (p.Ile62Val) rs2485506452
NM_000245.4(MET):c.1867A>C (p.Lys623Gln) rs2116919707
NM_000245.4(MET):c.1898A>T (p.His633Leu) rs45586239
NM_000245.4(MET):c.191T>C (p.Leu64Pro) rs1791466202
NM_000245.4(MET):c.194G>T (p.Gly65Val) rs1381554784
NM_000245.4(MET):c.2015G>A (p.Gly672Asp) rs2116923826
NM_000245.4(MET):c.2101A>C (p.Ser701Arg) rs2116925486
NM_000245.4(MET):c.2131A>T (p.Thr711Ser) rs2485719794
NM_000245.4(MET):c.229G>A (p.Asp77Asn) rs372320153
NM_000245.4(MET):c.2363T>A (p.Val788Glu) rs786204142
NM_000245.4(MET):c.2375A>C (p.His792Pro) rs980467681
NM_000245.4(MET):c.2389G>A (p.Glu797Lys) rs1307693651
NM_000245.4(MET):c.2396_2404del (p.Ile799_Cys801del) rs2485740585
NM_000245.4(MET):c.2488T>C (p.Tyr830His) rs1794468017
NM_000245.4(MET):c.2510A>G (p.His837Arg) rs1041349799
NM_000245.4(MET):c.2528C>T (p.Pro843Leu) rs762228405
NM_000245.4(MET):c.2555T>C (p.Met852Thr) rs369758288
NM_000245.4(MET):c.2588A>G (p.Asn863Ser) rs1794766796
NM_000245.4(MET):c.2608G>A (p.Val870Ile) rs2485766727
NM_000245.4(MET):c.2662C>G (p.His888Asp) rs115574135
NM_000245.4(MET):c.278C>G (p.Pro93Arg) rs1306740707
NM_000245.4(MET):c.2821A>G (p.Ile941Val) rs751909630
NM_000245.4(MET):c.2960G>A (p.Arg987Gln) rs910937816
NM_000245.4(MET):c.2983A>G (p.Met995Val) rs1794849768
NM_000245.4(MET):c.298G>C (p.Asp100His) rs1554378400
NM_000245.4(MET):c.3035T>C (p.Phe1012Ser) rs1794945602
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu) rs45612435
NM_000245.4(MET):c.3109A>G (p.Ser1037Gly) rs1794948966
NM_000245.4(MET):c.3212T>C (p.Ile1071Thr) rs2117031830
NM_000245.4(MET):c.3296A>G (p.Asp1099Gly) rs780431412
NM_000245.4(MET):c.3304G>A (p.Gly1102Ser) rs2117040123
NM_000245.4(MET):c.3307A>G (p.Lys1103Glu) rs1347737002
NM_000245.4(MET):c.3352A>G (p.Ile1118Val) rs755234697
NM_000245.4(MET):c.348C>G (p.Ile116Met) rs2116586543
NM_000245.4(MET):c.3493C>T (p.Leu1165Phe) rs2117047923
NM_000245.4(MET):c.3520C>T (p.His1174Tyr) rs1795074297
NM_000245.4(MET):c.3545T>C (p.Ile1182Thr) rs1795171887
NM_000245.4(MET):c.3656A>G (p.Lys1219Arg) rs2117065573
NM_000245.4(MET):c.3682G>T (p.Asp1228Tyr) rs121913671
NM_000245.4(MET):c.3748A>T (p.Met1250Leu) rs2117066995
NM_000245.4(MET):c.3781A>T (p.Thr1261Ser) rs45595632
NM_000245.4(MET):c.37G>T (p.Val13Leu) rs781777052
NM_000245.4(MET):c.3943G>A (p.Val1315Ile) rs2117110480
NM_000245.4(MET):c.4015G>C (p.Ala1339Pro) rs1795658722
NM_000245.4(MET):c.401G>A (p.Gly134Asp) rs2116587889
NM_000245.4(MET):c.4055T>A (p.Val1352Glu) rs2117112186
NM_000245.4(MET):c.4066T>C (p.Tyr1356His) rs2117112406
NM_000245.4(MET):c.4078A>G (p.Lys1360Glu) rs1795661591
NM_000245.4(MET):c.4115A>C (p.Glu1372Ala) rs1584978594
NM_000245.4(MET):c.4141A>G (p.Thr1381Ala) rs1292389793
NM_000245.4(MET):c.4145G>C (p.Arg1382Pro) rs752694306
NM_000245.4(MET):c.539T>A (p.Leu180Gln) rs2485510409
NM_000245.4(MET):c.541G>A (p.Gly181Arg) rs779040487
NM_000245.4(MET):c.611C>T (p.Ser204Phe) rs2485511135
NM_000245.4(MET):c.640A>G (p.Ile214Val) rs786203065
NM_000245.4(MET):c.654G>T (p.Arg218Ser) rs35284565
NM_000245.4(MET):c.683T>C (p.Phe228Ser) rs2116595259
NM_000245.4(MET):c.721T>C (p.Phe241Leu) rs746216803
NM_000245.4(MET):c.768C>A (p.Asn256Lys) rs1221580502
NM_000245.4(MET):c.803C>A (p.Thr268Asn) rs757427533
NM_000245.4(MET):c.803C>G (p.Thr268Ser) rs757427533
NM_000245.4(MET):c.916A>C (p.Lys306Gln) rs1032682239
NM_000245.4(MET):c.925A>C (p.Thr309Pro) rs35601148
NM_000245.4(MET):c.949C>A (p.Leu317Ile) rs750531377
NM_000245.4(MET):c.982C>A (p.Gln328Lys) rs2116602510
NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr) rs1954489249
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2573G>A (p.Arg858His) rs782428224
NM_000260.4(MYO7A):c.3226G>A (p.Glu1076Lys) rs1955328510
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) rs1555090314
NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs) rs1955999847
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903
NM_000441.1(SLC26A4):c.1342-2_1343dup rs111033407
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
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 rs2535317559
NM_000441.2(SLC26A4):c.1002-4C>G rs2129315781
NM_000441.2(SLC26A4):c.1002del rs2535317564
NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val) rs111033212
NM_000441.2(SLC26A4):c.1022dup (p.Pro342fs) rs2535317617
NM_000441.2(SLC26A4):c.1097_1098del (p.Ser366fs) rs2535317832
NM_000441.2(SLC26A4):c.1149+1G>A rs2535317969
NM_000441.2(SLC26A4):c.1150-1G>T rs1791525285
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val) rs777333979
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs) rs1554358720
NM_000441.2(SLC26A4):c.1172G>A (p.Ser391Asn) rs1791526110
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
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) rs2535319425
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1226G>T (p.Arg409Leu) rs111033305
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe) rs111033527
NM_000441.2(SLC26A4):c.1261C>T (p.Gln421Ter) rs781731620
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1263+1G>T rs1057517000
NM_000441.2(SLC26A4):c.1264-12T>A rs2129316889
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1264G>A (p.Val422Ile) rs2535326455
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs) rs1584292992
NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter) rs1562835480
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter) rs747076316
NM_000441.2(SLC26A4):c.1343_1355dup (p.Val453fs) rs1791686622
NM_000441.2(SLC26A4):c.1370A>T (p.Asn457Ile) rs1482605370
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1377del (p.Met461fs) rs2535327391
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) rs201636911
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1449del (p.Phe484fs) rs2535329349
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
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.1536_1537del (p.Arg512fs) rs1435734312
NM_000441.2(SLC26A4):c.1544+1G>T rs876657722
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1549del (p.Ser517fs) rs2535332449
NM_000441.2(SLC26A4):c.1553G>A (p.Trp518Ter) rs2535332468
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu) rs765197819
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) rs1057516243
NM_000441.2(SLC26A4):c.1614+1G>T rs111033312
NM_000441.2(SLC26A4):c.1614+1del rs2535332621
NM_000441.2(SLC26A4):c.1615-1G>T rs2535335265
NM_000441.2(SLC26A4):c.1615A>G (p.Ile539Val) rs968273154
NM_000441.2(SLC26A4):c.1629del (p.Gly544fs) rs1354286313
NM_000441.2(SLC26A4):c.164+1G>T rs1021962985
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.164+2T>G rs397516420
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs) rs1554360678
NM_000441.2(SLC26A4):c.1673del (p.Asn558fs) rs2535335393
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.1707+4_1707+7del rs770273286
NM_000441.2(SLC26A4):c.1708-1G>T rs759414956
NM_000441.2(SLC26A4):c.1717G>T (p.Asp573Tyr) rs2535336810
NM_000441.2(SLC26A4):c.1765C>T (p.Gln589Ter) rs1473339827
NM_000441.2(SLC26A4):c.1803+2T>C rs768454870
NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter) rs2535338130
NM_000441.2(SLC26A4):c.1905_1906del (p.Glu635fs) rs763203596
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 rs748722289
NM_000441.2(SLC26A4):c.2035-2A>G rs748722289
NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro) rs749712560
NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs) rs2535341650
NM_000441.2(SLC26A4):c.2089+1G>T rs727503430
NM_000441.2(SLC26A4):c.2113C>T (p.Gln705Ter) rs2535349697
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp) rs1417146153
NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs) rs1792142540
NM_000441.2(SLC26A4):c.2215dup (p.Gln739fs) rs2535350020
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter) rs1388888912
NM_000441.2(SLC26A4):c.2248C>T (p.Gln750Ter) rs2535353077
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser) rs1554352676
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) rs1057516658
NM_000441.2(SLC26A4):c.25G>T (p.Glu9Ter) rs758648839
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg) rs2129309202
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.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.304+2T>C rs746238617
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) rs2535293656
NM_000441.2(SLC26A4):c.346G>A (p.Gly116Ser) rs2535293661
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser) rs984967571
NM_000441.2(SLC26A4):c.387del (p.Phe130fs) rs2129311265
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.412_415+21delinsTGACA rs2535293821
NM_000441.2(SLC26A4):c.414del (p.Gly139fs) rs1562822698
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
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.508_509del (p.Val170fs) rs2535296384
NM_000441.2(SLC26A4):c.518dup (p.Thr174fs) rs2535296401
NM_000441.2(SLC26A4):c.574del (p.Ala191_Leu192insTer) rs2535296566
NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp) rs780123768
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter) rs2535296624
NM_000441.2(SLC26A4):c.600+2T>A rs1057516881
NM_000441.2(SLC26A4):c.601-2A>T rs1406937547
NM_000441.2(SLC26A4):c.642del (p.Leu215fs) rs2535297456
NM_000441.2(SLC26A4):c.668T>C (p.Phe223Ser) rs2535297502
NM_000441.2(SLC26A4):c.679G>C (p.Ala227Pro) rs2535297516
NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter) rs767477168
NM_000441.2(SLC26A4):c.735_739delinsTGTTTCA (p.Lys245fs) rs2535297597
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs) rs750365180
NM_000441.2(SLC26A4):c.783dup (p.Gln262fs) rs1395993186
NM_000441.2(SLC26A4):c.839del (p.Val280fs) rs2535310165
NM_000441.2(SLC26A4):c.890del (p.Pro297fs) rs786204600
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000441.2(SLC26A4):c.927dup (p.Ala310fs) rs2535310608
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter) rs1554357231
NM_001001331.4(ATP2B2):c.2501G>A (p.Gly834Asp) rs2470175441
NM_001004051.4(GPRASP2):c.1295G>A (p.Gly432Glu) rs1190810703
NM_001039141.3(TRIOBP):c.3214C>G (p.Arg1072Gly) rs752019502
NM_001039141.3(TRIOBP):c.4483G>T (p.Glu1495Ter) rs1924587856
NM_001039213.4(CEACAM16):c.-8G>A rs1355072516
NM_001127453.2(GSDME):c.212-1G>A rs1790597003
NM_001145026.2(PTPRQ):c.2621C>A (p.Ser874Ter) rs948217913
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg) rs1590053918
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter) rs1554834161
NM_001195263.2(PDZD7):c.2353A>C (p.Ser785Arg) rs1852358426
NM_001292063.2(OTOG):c.2542A>T (p.Ile848Phe) rs1852532958
NM_001292063.2(OTOG):c.3289G>A (p.Gly1097Ser) rs1215206522
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6197A>G (p.His2066Arg) rs770170338
NM_001292063.2(OTOG):c.7480+6T>C rs1854206287
NM_001304438.2(TMEM132E):c.1228A>G (p.Met410Val) rs1907257569
NM_001375524.1(TRRAP):c.11291C>T (p.Ala3764Val) rs1212619468
NM_001375524.1(TRRAP):c.4804A>G (p.Lys1602Glu) rs2484851360
NM_001375524.1(TRRAP):c.5974A>C (p.Met1992Leu) rs1421693784
NM_001375524.1(TRRAP):c.8750T>C (p.Met2917Thr) rs2484967867
NM_001378457.1(DMXL2):c.4475A>G (p.Lys1492Arg) rs2043364797
NM_001378457.1(DMXL2):c.8527-15_8527-11dup rs2039518483
NM_001378609.3(OTOGL):c.3626A>G (p.Tyr1209Cys) rs1886838397
NM_001379180.1(ESRRB):c.*1451C>G rs1485778712
NM_001384140.1(PCDH15):c.1013dup (p.His339fs) rs2539931430
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_001384140.1(PCDH15):c.1201C>T (p.Gln401Ter) rs2049552830
NM_001384140.1(PCDH15):c.127_130del (p.Ile43fs) rs2548744790
NM_001384140.1(PCDH15):c.1299del (p.Ile433fs) rs2539679682
NM_001384140.1(PCDH15):c.1306-1G>T rs1299990309
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter) rs2539507686
NM_001384140.1(PCDH15):c.1431C>A (p.Tyr477Ter) rs2048375787
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter) rs1168400018
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter) rs2133801342
NM_001384140.1(PCDH15):c.1475dup (p.Val493fs) rs1591019480
NM_001384140.1(PCDH15):c.158-1G>A rs876657418
NM_001384140.1(PCDH15):c.1591-2A>C rs2539029705
NM_001384140.1(PCDH15):c.1630dup (p.Ile544fs) rs2539028575
NM_001384140.1(PCDH15):c.1717_1729del (p.Met573fs) rs2539026716
NM_001384140.1(PCDH15):c.1728del (p.Arg577fs) rs2539026741
NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1738_1739del (p.Ala580fs) rs2539026307
NM_001384140.1(PCDH15):c.1738del (p.Ala580fs) rs2539026370
NM_001384140.1(PCDH15):c.1778_1784dup (p.Asn596fs) rs2539025331
NM_001384140.1(PCDH15):c.1784+1G>T rs761865629
NM_001384140.1(PCDH15):c.17dup (p.Tyr6Ter) rs2549545673
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1841del (p.Pro614fs) rs2540455720
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs) rs1564497773
NM_001384140.1(PCDH15):c.1917+1G>A rs772911878
NM_001384140.1(PCDH15):c.1956del (p.Ile652fs) rs2540011642
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs) rs2136049616
NM_001384140.1(PCDH15):c.1997+1G>C rs763797356
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.2029_2044del (p.Asp677fs) rs765906921
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer) rs765906921
NM_001384140.1(PCDH15):c.2092-2A>G rs2539768999
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer) rs771169423
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs) rs2539767594
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) rs2539204706
NM_001384140.1(PCDH15):c.2388dup (p.His797fs) rs2539203973
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_001384140.1(PCDH15):c.2544del (p.Gly849fs) rs2539169490
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) rs1589950125
NM_001384140.1(PCDH15):c.2662C>T (p.Gln888Ter) rs2135282980
NM_001384140.1(PCDH15):c.268del (p.Val90fs) rs2547872368
NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs) rs2539165971
NM_001384140.1(PCDH15):c.2782A>T (p.Lys928Ter) rs2538939518
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter) rs2091805733
NM_001384140.1(PCDH15):c.2825_2828dup (p.Pro944fs) rs2538938645
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs) rs2134302083
NM_001384140.1(PCDH15):c.2922C>G (p.Tyr974Ter) rs2088359285
NM_001384140.1(PCDH15):c.3009+1G>C rs2495134983
NM_001384140.1(PCDH15):c.3009+1G>T rs2495134983
NM_001384140.1(PCDH15):c.3010-1G>C rs2134277047
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter) rs2495078256
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer) rs1554882652
NM_001384140.1(PCDH15):c.3122+1G>A rs982893820
NM_001384140.1(PCDH15):c.3123-1G>C rs1554873550
NM_001384140.1(PCDH15):c.3179del (p.Ala1060fs) rs2494644051
NM_001384140.1(PCDH15):c.3300_3319dup (p.Val1107fs) rs2494602199
NM_001384140.1(PCDH15):c.3373+2T>C rs2494600372
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3499A>T (p.Lys1167Ter) rs2493949477
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs) rs2493336379
NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs) rs2493336259
NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter) rs1589156388
NM_001384140.1(PCDH15):c.366del (p.Asn122fs) rs1589072933
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.3717+1G>C rs748706627
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.371_372delinsT (p.Lys124fs) rs2547833210
NM_001384140.1(PCDH15):c.3751del (p.Ile1251fs) rs2493176302
NM_001384140.1(PCDH15):c.3781dup (p.Glu1261fs) rs2493175361
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_001384140.1(PCDH15):c.3946C>T (p.Gln1316Ter) rs2492841988
NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter) rs2492840553
NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs) rs2492840455
NM_001384140.1(PCDH15):c.3984-2A>C rs1554824185
NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs) rs2492660425
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_001384140.1(PCDH15):c.4094dup (p.Arg1366fs) rs2492656496
NM_001384140.1(PCDH15):c.4126del (p.Ala1376fs) rs2492655340
NM_001384140.1(PCDH15):c.4201C>T (p.Gln1401Ter) rs2077002696
NM_001384140.1(PCDH15):c.4223_4226dup (p.Cys1409Ter) rs2492555524
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs) rs2134714165
NM_001384140.1(PCDH15):c.42del (p.Ile15fs) rs2549545421
NM_001384140.1(PCDH15):c.4349_4352dup (p.Gly1452fs) rs2132576827
NM_001384140.1(PCDH15):c.4367+2251G>A rs868176515
NM_001384140.1(PCDH15):c.4367+2T>C rs1554822703
NM_001384140.1(PCDH15):c.4367+2dup rs2492546306
NM_001384140.1(PCDH15):c.457dup (p.Tyr153fs) rs2547832439
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter) rs1943288780
NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer) rs2135421905
NM_001384140.1(PCDH15):c.715C>T (p.Gln239Ter) rs2541283849
NM_001384140.1(PCDH15):c.810dup (p.Val271fs) rs2541280518
NM_001384140.1(PCDH15):c.876+2T>C rs2541277989
NM_001384140.1(PCDH15):c.91+1G>A rs1565887701
NM_001384140.1(PCDH15):c.915dup (p.Ala306fs) rs1591348421
NM_001384474.1(LOXHD1):c.1843C>T (p.Arg615Trp) rs112463030
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001854.4(COL11A1):c.2897G>T (p.Gly966Val) rs1180994816
NM_002160.4(TNC):c.2795G>C (p.Gly932Ala) rs766474182
NM_002160.4(TNC):c.4079G>A (p.Trp1360Ter) rs2540047490
NM_002160.4(TNC):c.4490G>C (p.Gly1497Ala) rs2539964485
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) rs762745890
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002700.3(POU4F3):c.604G>A (p.Gly202Arg) rs1760429516
NM_004004.6(GJB2):c.-16C>T rs759745271
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004086.3(COCH):c.329A>G (p.Gln110Arg) rs1281507766
NM_004526.4(MCM2):c.277G>A (p.Glu93Lys) rs199660068
NM_004999.4(MYO6):c.817-1G>A rs1057523846
NM_005012.4(ROR1):c.2728T>G (p.Tyr910Asp) rs760355948
NM_005219.5(DIAPH1):c.154T>C (p.Phe52Leu) rs2099897674
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys) rs1554201531
NM_005422.4(TECTA):c.1316T>C (p.Phe439Ser) rs1484775139
NM_005422.4(TECTA):c.1472G>T (p.Arg491Leu) rs760011660
NM_005422.4(TECTA):c.2848G>A (p.Glu950Lys) rs1374232396
NM_005422.4(TECTA):c.761T>C (p.Ile254Thr) rs1946467660
NM_005709.4(USH1C):c.1220del (p.Gly407fs) rs1207247951
NM_005909.5(MAP1B):c.2995C>T (p.Arg999Ter) rs2478574299
NM_005909.5(MAP1B):c.5563G>C (p.Gly1855Arg) rs2478583495
NM_005909.5(MAP1B):c.996G>C (p.Glu332Asp) rs2478567029
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) rs201282601
NM_006016.6(CD164):c.574C>T (p.Arg192Ter) rs876661402
NM_015404.4(WHRN):c.1018G>A (p.Asp340Asn) rs937343366
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) rs150586098
NM_016239.4(MYO15A):c.4235T>A (p.Phe1412Tyr) rs1597779977
NM_016239.4(MYO15A):c.823G>A (p.Gly275Ser) rs183969516
NM_018006.5(TRMU):c.1019-1G>A rs773484808
NM_018006.5(TRMU):c.1019-2_1023del rs2518215957
NM_018006.5(TRMU):c.1028_1029del (p.Val343fs) rs2147116755
NM_018006.5(TRMU):c.1041_1044dup (p.Asp349fs) rs755535065
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.1085_1101+7del rs2518216660
NM_018006.5(TRMU):c.1101+1G>A rs771177317
NM_018006.5(TRMU):c.1102-22_1130del rs2518223057
NM_018006.5(TRMU):c.1103_1109del rs2518223366
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu) rs774047684
NM_018006.5(TRMU):c.177_178del (p.Arg59fs) rs2518131963
NM_018006.5(TRMU):c.229T>C (p.Tyr77His) rs118203990
NM_018006.5(TRMU):c.231T>A (p.Tyr77Ter) rs914793719
NM_018006.5(TRMU):c.248+1G>T rs2518132615
NM_018006.5(TRMU):c.249-2A>C rs768299416
NM_018006.5(TRMU):c.260_263del (p.Asn87fs) rs749895492
NM_018006.5(TRMU):c.31_32del (p.Leu11fs) rs2518120850
NM_018006.5(TRMU):c.333del (p.His112fs) rs756600903
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 rs1407825579
NM_018006.5(TRMU):c.356-2_356-1del rs2147053913
NM_018006.5(TRMU):c.356-2del rs1351144189
NM_018006.5(TRMU):c.380dup (p.His127fs) rs2518162094
NM_018006.5(TRMU):c.397del (p.Leu133fs) rs2518162180
NM_018006.5(TRMU):c.416_417del (p.Val138_Phe139insTer) rs2078261207
NM_018006.5(TRMU):c.428_459dup (p.Arg154fs) rs2147054656
NM_018006.5(TRMU):c.458del (p.Asn153fs) rs2518162686
NM_018006.5(TRMU):c.478+1G>A rs1569072157
NM_018006.5(TRMU):c.479-1G>A rs2078376803
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del) rs762710723
NM_018006.5(TRMU):c.544C>T (p.Gln182Ter) rs1436976326
NM_018006.5(TRMU):c.575dup (p.Leu195fs) rs2518179155
NM_018006.5(TRMU):c.581del (p.Gly194fs) rs763926467
NM_018006.5(TRMU):c.581dup (p.Leu195fs) rs763926467
NM_018006.5(TRMU):c.591del (p.Glu198fs) rs751250875
NM_018006.5(TRMU):c.5_27dup (p.Ala10fs) rs774631375
NM_018006.5(TRMU):c.645_649del (p.Lys216fs) rs2518179911
NM_018006.5(TRMU):c.652-2A>G rs1336164502
NM_018006.5(TRMU):c.660dup (p.Met221fs) rs2518190654
NM_018006.5(TRMU):c.679_686del (p.Lys226_Arg227insTer) rs1484132200
NM_018006.5(TRMU):c.703C>T (p.Gln235Ter) rs1800386420
NM_018006.5(TRMU):c.706-2A>G rs1215799527
NM_018006.5(TRMU):c.737_738insT (p.Ile247fs) rs2518191972
NM_018006.5(TRMU):c.772+2T>G rs2147096093
NM_018006.5(TRMU):c.777G>A (p.Trp259Ter) rs2518201351
NM_018006.5(TRMU):c.824_825del (p.Glu275fs) rs1191230933
NM_018006.5(TRMU):c.824_825dup (p.Pro276fs) rs1191230933
NM_018006.5(TRMU):c.830G>A (p.Trp277Ter) rs2078511375
NM_018006.5(TRMU):c.867_868del (p.Phe290fs) rs2518202100
NM_018006.5(TRMU):c.872_873del (p.Val291fs) rs2518202141
NM_018006.5(TRMU):c.873+2T>G rs2518202192
NM_018006.5(TRMU):c.874-1G>C rs2518210728
NM_018006.5(TRMU):c.874-2A>G rs2518210719
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) rs1225948299
NM_018006.5(TRMU):c.903C>A (p.Tyr301Ter) rs779868712
NM_018006.5(TRMU):c.925del (p.Arg309fs) rs2518211256
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242
NM_018006.5(TRMU):c.994del (p.Arg332fs) rs2518212002
NM_022124.6(CDH23):c.371A>G (p.Asp124Gly) rs751192273
NM_022124.6(CDH23):c.4747G>T (p.Gly1583Cys) rs775013186
NM_024334.3(TMEM43):c.605A>T (p.Asn202Ile) rs958959766
NM_031475.3(ESPN):c.2539AAG[1] (p.Lys848del) rs1569771486
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.5339C>A (p.Pro1780His) rs1564533607
NM_033109.5(PNPT1):c.1176+439G>A rs773685426
NM_033109.5(PNPT1):c.1925_1927del (p.Val642del) rs1572796197
NM_033109.5(PNPT1):c.2067C>T (p.Ile689=) rs2529476670
NM_033109.5(PNPT1):c.298-2A>T rs1478363532
NM_033109.5(PNPT1):c.393T>G (p.Ser131Arg) rs556778073
NM_033109.5(PNPT1):c.918del (p.Val307fs) rs1696930196
NM_133261.3(GIPC3):c.592G>T (p.Asp198Tyr) rs1320335674
NM_144672.4(OTOA):c.1912C>T (p.Gln638Ter) rs1898923522
NM_144672.4(OTOA):c.2352del (p.Thr785fs) rs1212308982
NM_144991.3(TSPEAR):c.304-5450G>T rs143105755
NM_153676.4(USH1C):c.1000C>T (p.Gln334Ter) rs935876011
NM_153676.4(USH1C):c.1018C>T (p.Gln340Ter) rs776644722
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1039del (p.Gln347fs) rs2497144443
NM_153676.4(USH1C):c.104+5G>C rs2133927984
NM_153676.4(USH1C):c.1086-1G>T rs2497139905
NM_153676.4(USH1C):c.1094_1101dup (p.Glu368fs) rs2497139677
NM_153676.4(USH1C):c.1096del (p.Glu366fs) rs1565047971
NM_153676.4(USH1C):c.110_113del (p.Met37fs) rs2497228517
NM_153676.4(USH1C):c.1121G>A (p.Trp374Ter) rs2497139451
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.1910C>G (p.Thr637Ser) rs754365594
NM_153676.4(USH1C):c.2185-1G>A rs746871920
NM_153676.4(USH1C):c.2381-7_2381del rs2496984080
NM_153676.4(USH1C):c.238del (p.Arg80fs) rs397515359
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) rs748171099
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2520C>A (p.Cys840Ter) rs761957144
NM_153676.4(USH1C):c.2535T>A (p.Tyr845Ter) rs1488373963
NM_153676.4(USH1C):c.2546+1G>A rs1554953350
NM_153676.4(USH1C):c.286G>T (p.Glu96Ter) rs769420899
NM_153676.4(USH1C):c.348_373del (p.His116fs) rs2133917820
NM_153676.4(USH1C):c.356_365del (p.Lys119fs) rs2497222958
NM_153676.4(USH1C):c.36+1G>A rs1403777293
NM_153676.4(USH1C):c.37-1G>C rs2497242255
NM_153676.4(USH1C):c.388-1G>A rs1364331716
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.497_498delAC (p.Ile167fs) rs1850715505
NM_153676.4(USH1C):c.541del (p.Thr181fs) rs2497187090
NM_153676.4(USH1C):c.579+1G>A rs1283092935
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.70del (p.Asp24fs) rs2497241574
NM_153676.4(USH1C):c.711del (p.Phe237fs) rs1427085382
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.769C>T (p.Gln257Ter) rs2497163229
NM_153676.4(USH1C):c.877-2A>G rs2497156629
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs) rs2497155607
NM_153700.2(STRC):c.274C>T (p.Arg92Trp) rs1484849703
NM_174916.3(UBR1):c.1539+2T>G rs2033511910
NM_174916.3(UBR1):c.2075T>C (p.Ile692Thr) rs1235759223
NM_174916.3(UBR1):c.2261G>A (p.Arg754His) rs1567131023
NM_178335.3(CCDC50):c.199C>G (p.Leu67Val) rs1459433782
NM_194248.3(OTOF):c.3013C>G (p.Pro1005Ala) rs1665210196

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.