ClinVar Miner

List of variants studied for Usher syndrome type 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 583
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22253
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_022124.6(CDH23):c.1449+130T>C rs2305209 0.14152
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03680
NM_022124.6(CDH23):c.429+18T>C rs141451003 0.02288
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01274
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01149
NM_022124.6(CDH23):c.4846-19G>C rs80261750 0.00835
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_022124.6(CDH23):c.1449+76C>A rs41281304 0.00505
NM_001384140.1(PCDH15):c.3983+12T>C rs149867749 0.00471
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu) rs143240262 0.00366
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_000260.4(MYO7A):c.2283-20C>T rs371838579 0.00068
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_000260.4(MYO7A):c.3750+5G>A rs111033391 0.00065
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00063
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_022124.6(CDH23):c.832+8A>G rs56129333 0.00048
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) rs372509310 0.00043
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00042
NM_001384140.1(PCDH15):c.4368-1519A>G rs532994771 0.00040
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00038
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435 0.00034
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00033
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln) rs200697103 0.00032
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00027
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00026
NM_001384140.1(PCDH15):c.3502-6G>A rs749897896 0.00026
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met) rs565657378 0.00026
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873 0.00025
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu) rs145232643 0.00024
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala) rs150069992 0.00024
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00023
NM_022124.6(CDH23):c.1981G>A (p.Val661Met) rs369157174 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala) rs199834829 0.00019
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys) rs755817193 0.00019
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met) rs199754104 0.00014
NM_173477.5(USH1G):c.-2C>T rs758940726 0.00014
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val) rs199537178 0.00013
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00013
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu) rs564555435 0.00013
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00013
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) rs200304238 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910 0.00011
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met) rs370912192 0.00011
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_000260.4(MYO7A):c.1343+6G>A rs201886336 0.00010
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) rs781597943 0.00010
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00009
NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys) rs782276809 0.00008
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197 0.00008
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=) rs372311564 0.00008
NM_001384140.1(PCDH15):c.2000C>T (p.Thr667Met) rs143090687 0.00008
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00008
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_022124.6(CDH23):c.415G>A (p.Val139Ile) rs771868822 0.00008
NM_022124.6(CDH23):c.8057T>C (p.Val2686Ala) rs371567666 0.00008
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met) rs369776863 0.00008
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys) rs376169396 0.00007
NM_000260.4(MYO7A):c.4353C>T (p.Ala1451=) rs372336857 0.00007
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00007
NM_001384140.1(PCDH15):c.3555A>G (p.Ile1185Met) rs773283153 0.00007
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile) rs370549448 0.00007
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu) rs374964318 0.00007
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln) rs373480195 0.00007
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_022124.6(CDH23):c.9381-123C>A rs775172553 0.00007
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser) rs377510653 0.00007
NM_000260.4(MYO7A):c.*208C>G rs886048684 0.00006
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) rs544639673 0.00006
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys) rs780609120 0.00006
NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His) rs761867896 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys) rs200798008 0.00006
NM_022124.6(CDH23):c.1699G>A (p.Val567Met) rs377148854 0.00006
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile) rs143782870 0.00006
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp) rs781339262 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp) rs201579860 0.00006
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn) rs202147495 0.00006
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_033056.4(PCDH15):c.5380A>C (p.Thr1794Pro) rs748917362 0.00006
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423 0.00006
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met) rs953533173 0.00005
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213 0.00005
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met) rs367937228 0.00005
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln) rs562377533 0.00005
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00005
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg) rs41281306 0.00005
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00005
NM_022124.6(CDH23):c.2804G>A (p.Arg935His) rs748194042 0.00005
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp) rs756231829 0.00005
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00005
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His) rs376614796 0.00005
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr) rs548937425 0.00005
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00005
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys) rs771858198 0.00005
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831 0.00005
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797 0.00005
NM_153676.4(USH1C):c.2112A>G (p.Pro704=) rs199532754 0.00005
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085 0.00004
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) rs782757893 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His) rs199607235 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln) rs765083332 0.00004
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His) rs746610406 0.00004
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His) rs746971522 0.00004
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys) rs755800639 0.00004
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met) rs749501038 0.00004
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln) rs763303827 0.00004
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer) rs751539473 0.00004
NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly) rs558224212 0.00004
NM_153676.4(USH1C):c.1793G>A (p.Arg598His) rs767863235 0.00004
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947 0.00004
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp) rs200428926 0.00004
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg) rs572300575 0.00003
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) rs1052032 0.00003
NM_000260.4(MYO7A):c.2717G>A (p.Arg906His) rs868977760 0.00003
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710 0.00003
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=) rs376743356 0.00003
NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu) rs757896867 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp) rs780168150 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_022124.6(CDH23):c.227G>A (p.Arg76His) rs373802615 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) rs748462315 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr) rs185819621 0.00003
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile) rs763947401 0.00003
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys) rs370922401 0.00003
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667 0.00003
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) rs111033467 0.00003
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609 0.00003
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr) rs780514498 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089 0.00003
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_033056.4(PCDH15):c.4599_4600dup (p.Ser1534fs) rs1436725375 0.00003
NM_033056.4(PCDH15):c.4699_4715dup (p.Leu1573fs) rs763882874 0.00003
NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn) rs775952116 0.00003
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292 0.00002
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117 0.00002
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro) rs751034678 0.00002
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp) rs376796087 0.00002
NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter) rs1334199217 0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp) rs371374104 0.00002
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126 0.00002
NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr) rs375066152 0.00002
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474 0.00002
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met) rs746667217 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) rs121965080 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His) rs548728030 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_006383.4(CIB2):c.352A>G (p.Asn118Asp) rs146274871 0.00002
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln) rs1295355040 0.00002
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) rs370947344 0.00002
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00002
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met) rs775436759 0.00002
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu) rs746961144 0.00002
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe) rs763721044 0.00002
NM_022124.6(CDH23):c.9199-4G>A rs369900526 0.00002
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys) rs763119683 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_153676.4(USH1C):c.1183C>T (p.His395Tyr) rs769984840 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) rs199537187 0.00002
NM_173477.5(USH1G):c.859A>G (p.Thr287Ala) rs199782834 0.00002
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) rs1297886521 0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) rs111033219 0.00001
NM_000260.4(MYO7A):c.1563del (p.Asp521fs) rs1064794012 0.00001
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) rs968552859 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.2187+2_2187+8del rs1416744060 0.00001
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) rs782174733 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro) rs1241891051 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.2914C>T (p.Arg972Ter) rs782281371 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter) rs548381313 0.00001
NM_000260.4(MYO7A):c.3504-1G>C rs1555090171 0.00001
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) rs782694195 0.00001
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442 0.00001
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala) rs758332732 0.00001
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329 0.00001
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) rs769771981 0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu) rs746296177 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) rs373886432 0.00001
NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp) rs1010166278 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.604del (p.Ala202fs) rs781815916 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter) rs776930594 0.00001
NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr) rs1555062954 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) rs1383147250 0.00001
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491 0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285 0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter) rs1264383341 0.00001
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443 0.00001
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888 0.00001
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301 0.00001
NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn) rs1189952332 0.00001
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter) rs2547872482 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.3232+1G>A rs1476947005 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 0.00001
NM_001384140.1(PCDH15):c.3806+2T>C rs756692340 0.00001
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys) rs765215862 0.00001
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter) rs770416107 0.00001
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter) rs1554814611 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp) rs770510708 0.00001
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu) rs767345324 0.00001
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013 0.00001
NM_022124.6(CDH23):c.1874G>A (p.Arg625His) rs200907423 0.00001
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala) rs764332602 0.00001
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile) rs755812129 0.00001
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_022124.6(CDH23):c.2591G>T (p.Gly864Val) rs1317670560 0.00001
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser) rs560251790 0.00001
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe) rs2132740122 0.00001
NM_022124.6(CDH23):c.2870G>A (p.Arg957His) rs748047907 0.00001
NM_022124.6(CDH23):c.2954-2A>G rs1865810132 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala) rs759990271 0.00001
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys) rs764025875 0.00001
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val) rs1299758893 0.00001
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123 0.00001
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547 0.00001
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905 0.00001
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr) rs1198525214 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.6712+1G>A rs1554874900 0.00001
NM_022124.6(CDH23):c.6829+3A>G rs780258798 0.00001
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly) rs758727384 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7274_7275del (p.Thr2425fs) rs1841497902 0.00001
NM_022124.6(CDH23):c.8383C>T (p.Arg2795Ter) rs768834772 0.00001
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00001
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr) rs753997469 0.00001
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707 0.00001
NM_033056.4(PCDH15):c.4533_4554dup (p.Glu1519delinsLysIleHisIleSerIleTer) rs746017823 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
NM_153676.4(USH1C):c.104+1G>A rs1287021691 0.00001
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) rs775363189 0.00001
NM_153676.4(USH1C):c.2227-1G>T rs778110397 0.00001
NM_153676.4(USH1C):c.2270G>A (p.Arg757His) rs753703742 0.00001
NM_153676.4(USH1C):c.497-2del rs1480243085 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.91C>T (p.Arg31Ter) rs121908370 0.00001
NM_173477.5(USH1G):c.164+5G>A rs1337840598 0.00001
NC_000010.11:g.71682535dup rs753886326
NC_000010.11:g.71806223_71806224delinsTT rs876657422
NC_000011.10:g.77198597_77198604delinsCA rs111033259
NM_000260.4(MYO7A):c.1005_1012delinsTGCCAACAGCCCCTTGCTGCCTCCCCTGATGCTGTGCCCC (p.Arg336fs)
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter) rs782639389
NM_000260.4(MYO7A):c.1080+1G>C
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.132+6T>C rs781852295
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.1690+3A>G rs1555070313
NM_000260.4(MYO7A):c.178dup (p.His60fs)
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.1955G>A (p.Cys652Tyr) rs1954474030
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.2094+2T>C
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys) rs2135473615
NM_000260.4(MYO7A):c.2569C>T (p.Gln857Ter) rs1555082994
NM_000260.4(MYO7A):c.285+1G>T
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2926_2938del (p.Glu976fs)
NM_000260.4(MYO7A):c.3109-2A>G rs781977497
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) rs116892396
NM_000260.4(MYO7A):c.3286-2A>C
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs) rs1064793208
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000260.4(MYO7A):c.3503+2T>C rs2497276257
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.3599del (p.Gly1200fs)
NM_000260.4(MYO7A):c.3656del (p.Gly1219fs)
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) rs397516304
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3829del (p.Ala1277fs) rs2135562294
NM_000260.4(MYO7A):c.3880_3881del (p.Lys1294fs)
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val) rs2135575353
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del) rs1437625274
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) rs1555096223
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter) rs1952434877
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn) rs766461538
NM_000260.4(MYO7A):c.5127del (p.Lys1710fs)
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) rs111033477
NM_000260.4(MYO7A):c.5248del (p.Glu1750fs)
NM_000260.4(MYO7A):c.5260C>T (p.Gln1754Ter) rs2497664685
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter) rs778009227
NM_000260.4(MYO7A):c.5785C>T (p.Gln1929Ter) rs1957512851
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5856+1G>A
NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter) rs1266443165
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6079_6081del (p.His2027del) rs1957839812
NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter) rs1957844295
NM_000260.4(MYO7A):c.6228_6232del (p.Asp2076fs) rs2135785861
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) rs759614902
NM_000260.4(MYO7A):c.721C>G (p.Arg241Gly) rs782166819
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.75_76del (p.Ala26fs)
NM_000260.4(MYO7A):c.846dup (p.Met283fs) rs1952586315
NM_000260.4(MYO7A):c.947G>A (p.Trp316Ter)
NM_000260.4(MYO7A):c.979_985dup (p.Gly329fs)
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
NM_001384140.1(PCDH15):c.1306-2A>G rs2539511295
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) rs2133817680
NM_001384140.1(PCDH15):c.1699A>G (p.Ile567Val)
NM_001384140.1(PCDH15):c.16_20del (p.Tyr6fs)
NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs) rs2136049616
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_001384140.1(PCDH15):c.2029_2044del (p.Asp677fs) rs765906921
NM_001384140.1(PCDH15):c.2042C>G (p.Thr681Ser)
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer) rs771169423
NM_001384140.1(PCDH15):c.2220+2T>C
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu) rs375282189
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs) rs2135322143
NM_001384140.1(PCDH15):c.2414dup (p.Leu805fs)
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_001384140.1(PCDH15):c.2818_2821dup (p.Lys941fs)
NM_001384140.1(PCDH15):c.2868+5G>A rs757993503
NM_001384140.1(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter) rs2495078256
NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg) rs2086006894
NM_001384140.1(PCDH15):c.3270T>G (p.Tyr1090Ter) rs1405076980
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3688A>T (p.Lys1230Ter) rs2079479378
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.4039G>A (p.Glu1347Lys) rs1358647851
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs) rs2134714165
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4367+1G>A rs1057516613
NM_001384140.1(PCDH15):c.4671+1420del rs778088114
NM_001384140.1(PCDH15):c.4672-1444_4672-1441dup rs373720521
NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs) rs570460962
NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer) rs770322907
NM_001384140.1(PCDH15):c.561dup (p.Glu188fs) rs2134175729
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384140.1(PCDH15):c.880G>T (p.Glu294Ter)
NM_005709.4(USH1C):c.1211-5_1232delinsCGG
NM_005709.4(USH1C):c.1216C>T (p.Gln406Ter)
NM_005709.4(USH1C):c.1220del (p.Gly407fs) rs1207247951
NM_006383.4(CIB2):c.401G>T (p.Arg134Leu) rs199819065
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg) rs2493815701
NM_022124.6(CDH23):c.1270G>A (p.Val424Met) rs2305207
NM_022124.6(CDH23):c.1395C>A (p.Tyr465Ter)
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile) rs771847607
NM_022124.6(CDH23):c.145+1G>T rs1850169561
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022124.6(CDH23):c.2323del (p.His775fs)
NM_022124.6(CDH23):c.2419del (p.Leu807fs)
NM_022124.6(CDH23):c.2476del (p.Leu826fs) rs1865609793
NM_022124.6(CDH23):c.2587+1G>T
NM_022124.6(CDH23):c.2730C>G (p.Tyr910Ter)
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met) rs183220886
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser) rs765094120
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys) rs765094120
NM_022124.6(CDH23):c.2864G>A (p.Arg955His) rs758293939
NM_022124.6(CDH23):c.289-1G>C
NM_022124.6(CDH23):c.3247_3248del (p.Thr1083fs)
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) rs371962929
NM_022124.6(CDH23):c.337-2A>G
NM_022124.6(CDH23):c.3619del (p.Val1207fs)
NM_022124.6(CDH23):c.4102_4103delinsTATCTTGAA (p.Thr1368fs)
NM_022124.6(CDH23):c.4105-1G>A
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022124.6(CDH23):c.4594_4597del (p.Gly1532fs)
NM_022124.6(CDH23):c.4617+5G>C rs772189237
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys) rs759876454
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5256dup (p.Glu1753Ter)
NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter) rs397517337
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs) rs2132929769
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5434G>T (p.Glu1812Ter)
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.5985C>A (p.Tyr1995Ter)
NM_022124.6(CDH23):c.6254-12_6258del
NM_022124.6(CDH23):c.6254-2A>C
NM_022124.6(CDH23):c.6393del (p.Ile2132fs) rs754876029
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.6973A>T (p.Lys2325Ter)
NM_022124.6(CDH23):c.7033C>T (p.Gln2345Ter)
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=) rs747544364
NM_022124.6(CDH23):c.7225del
NM_022124.6(CDH23):c.7557T>G (p.Tyr2519Ter) rs2132977459
NM_022124.6(CDH23):c.7730_7734del (p.Phe2577fs)
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser) rs373294595
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) rs774559018
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=) rs377535432
NM_022124.6(CDH23):c.8191C>T (p.Gln2731Ter)
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=) rs372996083
NM_022124.6(CDH23):c.8287_8290del (p.Ile2763fs)
NM_022124.6(CDH23):c.8308+1G>A rs757675676
NM_022124.6(CDH23):c.833-1G>A
NM_022124.6(CDH23):c.8352del (p.Leu2785fs) rs1483001216
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His) rs534575559
NM_022124.6(CDH23):c.918C>G (p.Tyr306Ter)
NM_022124.6(CDH23):c.9198+2T>A rs1841921374
NM_022124.6(CDH23):c.9207dup (p.Ile3070fs)
NM_022124.6(CDH23):c.9254del (p.Leu3085fs) rs773926246
NM_022124.6(CDH23):c.9280_9286del rs2133002929
NM_022124.6(CDH23):c.9381-2A>G rs1841971198
NM_022124.6(CDH23):c.9481G>C (p.Asp3161His)
NM_022124.6(CDH23):c.9511-2A>C
NM_022124.6(CDH23):c.9634-1G>A
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=) rs1382062973
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4368-7_4374del
NM_033056.4(PCDH15):c.4403_4407dup (p.Asn1470fs)
NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs) rs749884609
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs) rs749884609
NM_033056.4(PCDH15):c.4411_4412del (p.Val1472fs)
NM_033056.4(PCDH15):c.4411_4412dup (p.Val1472fs) rs2132512042
NM_033056.4(PCDH15):c.4467_4497dup (p.Gly1500delinsTyrTer)
NM_033056.4(PCDH15):c.4523_4526dup (p.Ala1510fs) rs1554820966
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer) rs1233449433
NM_033056.4(PCDH15):c.4566_4569dup (p.Ala1524fs) rs2132508767
NM_033056.4(PCDH15):c.4596_4600dup (p.Ser1534delinsThrTer) rs2132508266
NM_033056.4(PCDH15):c.4616A>T (p.Asn1539Ile) rs780662896
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4741C>T (p.Pro1581Ser)
NM_033056.4(PCDH15):c.4865_4871dup (p.Leu1625fs)
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del) rs978342737
NM_033056.4(PCDH15):c.5481C>A (p.Cys1827Ter) rs1588927571
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr) rs886047060
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164
NM_153676.4(USH1C):c.-60T>G rs371444878
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1144G>T (p.Glu382Ter)
NM_153676.4(USH1C):c.135C>T (p.Asp45=) rs140319839
NM_153676.4(USH1C):c.2217dup (p.Tyr740fs)
NM_153676.4(USH1C):c.2371G>T (p.Glu791Ter)
NM_153676.4(USH1C):c.2381-7_2381del rs2496984080
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.348_373del (p.His116fs) rs2133917820
NM_153676.4(USH1C):c.388-1G>A rs1364331716
NM_153676.4(USH1C):c.491_492del (p.Val164fs) rs1850741468
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.496_496+4del rs1381315419
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_153676.4(USH1C):c.711del (p.Phe237fs) rs1427085382
NM_153676.4(USH1C):c.876+2_876+19del
NM_153676.4(USH1C):c.878_882delinsA (p.Gly293fs)
NM_153676.4(USH1C):c.912_934dup (p.Leu312fs)
NM_173477.5(USH1G):c.1004dup (p.Leu336fs) rs1359109336
NM_173477.5(USH1G):c.1150_1156del (p.Asp384fs)
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter) rs928656346
NM_173477.5(USH1G):c.275G>A (p.Trp92Ter) rs2544431739
NM_173477.5(USH1G):c.370C>T (p.Gln124Ter)
NM_173477.5(USH1G):c.387dup (p.Lys130fs) rs2144755152
NM_173477.5(USH1G):c.445G>T (p.Glu149Ter)
NM_173477.5(USH1G):c.623dup (p.Thr209fs)
NM_173477.5(USH1G):c.723_726dup (p.Ser243fs)
NM_173477.5(USH1G):c.742del (p.Gln248fs)

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