ClinVar Miner

List of variants studied for Usher syndrome type 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 914
Download table as spreadsheet
HGVS dbSNP
NM_000260.4(MYO7A):c.*100C>T
NM_000260.4(MYO7A):c.*101G>A rs886048683
NM_000260.4(MYO7A):c.*142A>G rs369873505
NM_000260.4(MYO7A):c.*201T>C
NM_000260.4(MYO7A):c.*208C>G rs886048684
NM_000260.4(MYO7A):c.*230A>G rs112830819
NM_000260.4(MYO7A):c.*315C>G
NM_000260.4(MYO7A):c.*363A>C rs115872143
NM_000260.4(MYO7A):c.*38G>A
NM_000260.4(MYO7A):c.*392A>G
NM_000260.4(MYO7A):c.*416C>T
NM_000260.4(MYO7A):c.*440G>A
NM_000260.4(MYO7A):c.*442T>C rs115238711
NM_000260.4(MYO7A):c.*504C>T rs34765389
NM_000260.4(MYO7A):c.*75C>T
NM_000260.4(MYO7A):c.-154G>A rs545774605
NM_000260.4(MYO7A):c.-170C>T rs886048667
NM_000260.4(MYO7A):c.-196C>T rs886048666
NM_000260.4(MYO7A):c.-20G>A rs886048668
NM_000260.4(MYO7A):c.-211A>G rs41298129
NM_000260.4(MYO7A):c.-52C>G
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) rs782681743
NM_000260.4(MYO7A):c.1201-12A>G
NM_000260.4(MYO7A):c.1242C>T (p.Ile414=) rs886048673
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693
NM_000260.4(MYO7A):c.133-14C>T rs116228809
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.1343+8G>T rs2276278
NM_000260.4(MYO7A):c.1344-7C>G rs886048674
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1554+7C>T rs150114658
NM_000260.4(MYO7A):c.1554+8G>A rs111033227
NM_000260.4(MYO7A):c.1554G>A (p.Lys518=) rs886048675
NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys) rs886048669
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala) rs369142107
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566
NM_000260.4(MYO7A):c.1690+4C>T
NM_000260.4(MYO7A):c.1690+9G>T rs371146074
NM_000260.4(MYO7A):c.1719G>T (p.Leu573=)
NM_000260.4(MYO7A):c.1797+13C>T
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met)
NM_000260.4(MYO7A):c.19-9C>T rs368452072
NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn)
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln)
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) rs781991817
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) rs369787754
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg) rs572300575
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp) rs886048676
NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu) rs886048670
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) rs373656667
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) rs782757893
NM_000260.4(MYO7A):c.2282+5G>A rs540145750
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) rs111033229
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036
NM_000260.4(MYO7A):c.2372G>A (p.Arg791His) rs782693893
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp) rs376796087
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp)
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln) rs561347333
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=) rs782711428
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His) rs782179888
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=)
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) rs1052032
NM_000260.4(MYO7A):c.2679C>T (p.Ala893=) rs782279442
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) rs78072361
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)
NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile)
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714
NM_000260.4(MYO7A):c.286-5C>T rs111033471
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295
NM_000260.4(MYO7A):c.288G>T (p.Thr96=) rs56023295
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val) rs113326082
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800
NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu)
NM_000260.4(MYO7A):c.3109-15C>T
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576
NM_000260.4(MYO7A):c.3375+12C>T
NM_000260.4(MYO7A):c.3375+14C>A rs782500012
NM_000260.4(MYO7A):c.3375+3G>A rs397516299
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) rs200840044
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743
NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp) rs886048671
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) rs199918940
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=)
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637
NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln)
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg) rs780594308
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) rs77299211
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=) rs767426033
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.3751-14T>C
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=) rs754599732
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) rs372623270
NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser)
NM_000260.4(MYO7A):c.3924+12C>T rs2276285
NM_000260.4(MYO7A):c.3925-8G>A rs367645097
NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser)
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474
NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu)
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818
NM_000260.4(MYO7A):c.4118G>A (p.Arg1373Gln) rs886048677
NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn)
NM_000260.4(MYO7A):c.4153-8C>T rs143216377
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116
NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln)
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006
NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=)
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413
NM_000260.4(MYO7A):c.4568+12C>G rs72933642
NM_000260.4(MYO7A):c.4568+13G>A rs532356676
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) rs397516311
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745
NM_000260.4(MYO7A):c.4630G>A (p.Gly1544Ser) rs886048678
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=) rs757971917
NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=)
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) rs758921557
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472
NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys)
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys) rs749146420
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) rs367687624
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599
NM_000260.4(MYO7A):c.495G>A (p.Thr165=)
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288
NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp)
NM_000260.4(MYO7A):c.5037G>A (p.Glu1679=) rs886048679
NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=) rs886048680
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) rs368246776
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.4(MYO7A):c.5169-6C>T rs768594224
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004
NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met)
NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=) rs886048681
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp)
NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=) rs773557376
NM_000260.4(MYO7A):c.5326+13C>T rs114157944
NM_000260.4(MYO7A):c.5327-10C>G
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=) rs376301325
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) rs762836180
NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=)
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=) rs368749248
NM_000260.4(MYO7A):c.5480+10G>A rs768513428
NM_000260.4(MYO7A):c.5481-14G>A rs113075052
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404
NM_000260.4(MYO7A):c.5589C>T (p.His1863=)
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) rs572959359
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=) rs140664109
NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=) rs375627342
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=) rs778051833
NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=) rs747516555
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293
NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln) rs886048672
NM_000260.4(MYO7A):c.5743-12T>C rs2276291
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=) rs749438001
NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=) rs886048682
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476
NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His) rs767931313
NM_000260.4(MYO7A):c.5857-7A>T rs1320703
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile) rs371313080
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753
NM_000260.4(MYO7A):c.593-5C>T rs762666
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln) rs762420918
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=)
NM_000260.4(MYO7A):c.5945-9G>C
NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met) rs377517717
NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile)
NM_000260.4(MYO7A):c.6052-11G>C rs112564978
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209
NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=) rs1381141633
NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=)
NM_000260.4(MYO7A):c.617G>A (p.Arg206His) rs781998354
NM_000260.4(MYO7A):c.618C>T (p.Arg206=) rs375851346
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=) rs367738288
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile) rs544709413
NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr)
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=) rs370866578
NM_000260.4(MYO7A):c.6559-11C>T rs34517202
NM_000260.4(MYO7A):c.6600G>C (p.Gln2200His) rs779431269
NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe)
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158
NM_000260.4(MYO7A):c.741G>A (p.Leu247=)
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544
NM_000260.4(MYO7A):c.813C>T (p.Gly271=)
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp) rs782505601
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr) rs372344870
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_002778.4(PSAP):c.*238G>C
NM_022124.6(CDH23):c.*104G>C rs377312107
NM_022124.6(CDH23):c.*141G>A rs535544696
NM_022124.6(CDH23):c.*173C>T
NM_022124.6(CDH23):c.*1C>G rs768199443
NM_022124.6(CDH23):c.*204A>G rs2290022
NM_022124.6(CDH23):c.*247C>T
NM_022124.6(CDH23):c.*349A>G rs1867978
NM_022124.6(CDH23):c.*361C>A rs115033851
NM_022124.6(CDH23):c.*408G>A
NM_022124.6(CDH23):c.*430A>T rs562268606
NM_022124.6(CDH23):c.*434G>A rs529522213
NM_022124.6(CDH23):c.*439C>T rs140312023
NM_022124.6(CDH23):c.*478G>C rs564392413
NM_022124.6(CDH23):c.*481G>A
NM_022124.6(CDH23):c.*509C>T
NM_022124.6(CDH23):c.*510G>A rs1054635
NM_022124.6(CDH23):c.*515C>A rs16929375
NM_022124.6(CDH23):c.*56G>A
NM_022124.6(CDH23):c.*612G>A rs886047147
NM_022124.6(CDH23):c.*68G>C rs527311705
NM_022124.6(CDH23):c.*76G>A
NM_022124.6(CDH23):c.*80G>A rs75715348
NM_022124.6(CDH23):c.*83G>A rs886047143
NM_022124.6(CDH23):c.*85G>A rs886047144
NM_022124.6(CDH23):c.-15C>A rs760922529
NM_022124.6(CDH23):c.-168C>T rs886047126
NM_022124.6(CDH23):c.-185G>C rs545081281
NM_022124.6(CDH23):c.-1C>T rs41281302
NM_022124.6(CDH23):c.-258G>A rs139742443
NM_022124.6(CDH23):c.-276G>A rs886047123
NM_022124.6(CDH23):c.-346G>T rs886047122
NM_022124.6(CDH23):c.-353C>G rs886047121
NM_022124.6(CDH23):c.-38G>C rs886047128
NM_022124.6(CDH23):c.-55G>A
NM_022124.6(CDH23):c.-6+13A>C
NM_022124.6(CDH23):c.10010T>C (p.Leu3337Pro) rs746750273
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.6(CDH23):c.10042C>A (p.Pro3348Thr) rs745358868
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn) rs200792189
NM_022124.6(CDH23):c.1062C>T (p.Ser354=) rs775091135
NM_022124.6(CDH23):c.1068C>T (p.Ala356=) rs141247813
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383
NM_022124.6(CDH23):c.1089C>T (p.Val363=) rs556135873
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_022124.6(CDH23):c.1134+13A>G rs7903502
NM_022124.6(CDH23):c.1140+14T>C
NM_022124.6(CDH23):c.1168T>C (p.Leu390=) rs369803887
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn) rs727502920
NM_022124.6(CDH23):c.1421C>T (p.Thr474Ile)
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947
NM_022124.6(CDH23):c.1566C>T (p.Asp522=)
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490
NM_022124.6(CDH23):c.1751G>A (p.Arg584Gln) rs776970952
NM_022124.6(CDH23):c.1756A>G (p.Thr586Ala)
NM_022124.6(CDH23):c.1778A>C (p.Asn593Thr) rs756958499
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055
NM_022124.6(CDH23):c.1858+6T>C rs745522676
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957
NM_022124.6(CDH23):c.1986+10C>A
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288
NM_022124.6(CDH23):c.2038G>A (p.Val680Met)
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130
NM_022124.6(CDH23):c.2059+6G>A rs727502923
NM_022124.6(CDH23):c.205G>A (p.Val69Met)
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663
NM_022124.6(CDH23):c.2176+12C>T rs371967419
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_022124.6(CDH23):c.2289C>T (p.Thr763=)
NM_022124.6(CDH23):c.2290-3C>T
NM_022124.6(CDH23):c.2310C>T (p.Asp770=) rs886047131
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461
NM_022124.6(CDH23):c.2353A>C (p.Ile785Leu) rs886047132
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) rs759917997
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395
NM_022124.6(CDH23):c.2792T>C (p.Val931Ala)
NM_022124.6(CDH23):c.2794G>A (p.Gly932Ser) rs373305209
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys) rs532018311
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330
NM_022124.6(CDH23):c.28C>T (p.His10Tyr)
NM_022124.6(CDH23):c.2909C>T (p.Ala970Val)
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) rs762772276
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099
NM_022124.6(CDH23):c.2953+10C>T rs781572688
NM_022124.6(CDH23):c.2954-14G>A rs191534381
NM_022124.6(CDH23):c.2954-15C>T rs376377077
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044
NM_022124.6(CDH23):c.3069C>T (p.Asp1023=)
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320
NM_022124.6(CDH23):c.3106+11G>A
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) rs140255091
NM_022124.6(CDH23):c.321C>G (p.Val107=) rs761122371
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606
NM_022124.6(CDH23):c.324C>T (p.Ser108=) rs373668614
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) rs757508152
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631
NM_022124.6(CDH23):c.3369+12G>A rs187975106
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His)
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn)
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391
NM_022124.6(CDH23):c.3580-12C>T rs73275848
NM_022124.6(CDH23):c.3580-13C>T rs150894638
NM_022124.6(CDH23):c.3613G>T (p.Ala1205Ser) rs886047134
NM_022124.6(CDH23):c.3614C>T (p.Ala1205Val) rs886047135
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=)
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.367G>C (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) rs372172457
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570
NM_022124.6(CDH23):c.386C>T (p.Ala129Val) rs183046743
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) rs201610096
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=) rs568924674
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453
NM_022124.6(CDH23):c.4005C>G (p.Val1335=) rs886047136
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met) rs762247872
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=) rs571668370
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096
NM_022124.6(CDH23):c.4210-12G>A
NM_022124.6(CDH23):c.4210-7C>T rs79271090
NM_022124.6(CDH23):c.4275G>A (p.Ala1425=)
NM_022124.6(CDH23):c.429+13G>A rs3802719
NM_022124.6(CDH23):c.429+4G>A rs397517328
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564
NM_022124.6(CDH23):c.4346G>A (p.Gly1449Asp) rs544278944
NM_022124.6(CDH23):c.4356G>A (p.Gly1452=)
NM_022124.6(CDH23):c.4359+11G>A rs12242607
NM_022124.6(CDH23):c.4390G>A (p.Ala1464Thr) rs756674688
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu) rs371145622
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319
NM_022124.6(CDH23):c.4687C>A (p.Leu1563Met)
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys) rs200664666
NM_022124.6(CDH23):c.4795T>C (p.Phe1599Leu) rs886047137
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560
NM_022124.6(CDH23):c.4857C>T (p.His1619=) rs369817589
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269
NM_022124.6(CDH23):c.4897A>G (p.Met1633Val)
NM_022124.6(CDH23):c.4913A>C (p.His1638Pro) rs886047138
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=) rs886047139
NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser)
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=) rs376952695
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=) rs757049933
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334
NM_022124.6(CDH23):c.5067+15G>A rs367928867
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423
NM_022124.6(CDH23):c.5112C>T (p.His1704=) rs774919846
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194
NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp) rs201763918
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) rs372822465
NM_022124.6(CDH23):c.5257G>A (p.Glu1753Lys) rs759706770
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480
NM_022124.6(CDH23):c.5328C>A (p.Asn1776Lys) rs371522191
NM_022124.6(CDH23):c.5397G>A (p.Gly1799=) rs749913488
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157
NM_022124.6(CDH23):c.5503-10A>G rs2394839
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln) rs375083901
NM_022124.6(CDH23):c.5523G>A (p.Val1841=) rs369513655
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119
NM_022124.6(CDH23):c.5542G>A (p.Asp1848Asn) rs188078418
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750
NM_022124.6(CDH23):c.559G>A (p.Val187Ile)
NM_022124.6(CDH23):c.5627G>A (p.Ser1876Asn)
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340
NM_022124.6(CDH23):c.5686G>C (p.Glu1896Gln)
NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp)
NM_022124.6(CDH23):c.5711C>T (p.Thr1904Met) rs372981760
NM_022124.6(CDH23):c.5721C>A (p.Ile1907=)
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440
NM_022124.6(CDH23):c.5821-13C>T rs117317626
NM_022124.6(CDH23):c.5865C>T (p.Asn1955=) rs762382800
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233
NM_022124.6(CDH23):c.588G>A (p.Glu196=) rs886047129
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=) rs397517347
NM_022124.6(CDH23):c.5970A>G (p.Ala1990=)
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=) rs370762205
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) rs568741210
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031
NM_022124.6(CDH23):c.6320G>T (p.Arg2107Leu)
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=) rs368155422
NM_022124.6(CDH23):c.6376C>T (p.Arg2126Cys) rs776269225
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly) rs376414352
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln) rs377376107
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met) rs370794439
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654
NM_022124.6(CDH23):c.6649A>G (p.Lys2217Glu)
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072
NM_022124.6(CDH23):c.67+12C>T rs74144963
NM_022124.6(CDH23):c.67+8C>T rs186548927
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737
NM_022124.6(CDH23):c.6713-8G>A rs369946986
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495
NM_022124.6(CDH23):c.699C>T (p.Asp233=)
NM_022124.6(CDH23):c.7050G>A (p.Ser2350=)
NM_022124.6(CDH23):c.7054+6T>C
NM_022124.6(CDH23):c.7055-15G>A rs371872394
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly) rs758727384
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354
NM_022124.6(CDH23):c.7225-11C>G
NM_022124.6(CDH23):c.7362+14G>A rs78158757
NM_022124.6(CDH23):c.7382C>T (p.Ser2461Phe)
NM_022124.6(CDH23):c.7461C>T (p.Asn2487=)
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336
NM_022124.6(CDH23):c.7482+12C>A rs370000472
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=) rs886047140
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374
NM_022124.6(CDH23):c.7661-8A>G rs754067214
NM_022124.6(CDH23):c.7720T>C (p.Tyr2574His) rs886047141
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338
NM_022124.6(CDH23):c.789G>A (p.Gln263=)
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His) rs200251748
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757
NM_022124.6(CDH23):c.8009G>A (p.Ser2670Asn) rs749342092
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315
NM_022124.6(CDH23):c.8062A>G (p.Ser2688Gly)
NM_022124.6(CDH23):c.8064+13C>A
NM_022124.6(CDH23):c.8065-5C>A
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln)
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685
NM_022124.6(CDH23):c.8244C>T (p.Gly2748=)
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352
NM_022124.6(CDH23):c.8309-3C>T rs371910002
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440
NM_022124.6(CDH23):c.8344G>C (p.Asp2782His)
NM_022124.6(CDH23):c.836A>G (p.Asn279Ser) rs886047130
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val) rs3802707
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254
NM_022124.6(CDH23):c.856C>T (p.Leu286=) rs727502918
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350
NM_022124.6(CDH23):c.8672T>G (p.Phe2891Cys)
NM_022124.6(CDH23):c.8743C>T (p.Arg2915Cys) rs185818081
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) rs370184182
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn) rs371286324
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile) rs748152139
NM_022124.6(CDH23):c.8886C>A (p.Asn2962Lys)
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009
NM_022124.6(CDH23):c.8899C>T (p.Arg2967Cys) rs373602652
NM_022124.6(CDH23):c.8900G>A (p.Arg2967His)
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys) rs746716712
NM_022124.6(CDH23):c.8931C>T (p.His2977=) rs781099726
NM_022124.6(CDH23):c.8979+13C>T rs886047142
NM_022124.6(CDH23):c.8980-12C>T rs111583276
NM_022124.6(CDH23):c.8980-14C>A rs45522532
NM_022124.6(CDH23):c.8986G>A (p.Val2996Met)
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938
NM_022124.6(CDH23):c.9014C>T (p.Ala3005Val) rs188966938
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158
NM_022124.6(CDH23):c.9077+7C>T rs76114420
NM_022124.6(CDH23):c.9077+8G>A rs11818398
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=) rs768198017
NM_022124.6(CDH23):c.9116G>A (p.Arg3039Gln)
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850
NM_022124.6(CDH23):c.9319+11G>A rs11000013
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029
NM_022124.6(CDH23):c.9337G>C (p.Asp3113His)
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721
NM_022124.6(CDH23):c.9510+13C>T rs183692794
NM_022124.6(CDH23):c.9510+14G>A
NM_022124.6(CDH23):c.9510+14G>T
NM_022124.6(CDH23):c.9511-7T>C rs531195164
NM_022124.6(CDH23):c.960C>T (p.Asn320=) rs756644736
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089
NM_022124.6(CDH23):c.9633+14G>A
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457
NM_022124.6(CDH23):c.968G>A (p.Arg323His)
NM_022124.6(CDH23):c.9694C>T (p.Arg3232Trp)
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938
NM_022124.6(CDH23):c.9805C>G (p.Arg3269Gly)
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987
NM_022124.6(CDH23):c.9832G>A (p.Gly3278Arg)
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827
NM_022124.6(CDH23):c.9933G>A (p.Ser3311=)
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933
NM_033056.4(PCDH15):c.*109A>G
NM_033056.4(PCDH15):c.*135T>C rs886047058
NM_033056.4(PCDH15):c.*366G>A rs187860910
NM_033056.4(PCDH15):c.*389G>A rs886047055
NM_033056.4(PCDH15):c.*414G>C rs16937780
NM_033056.4(PCDH15):c.*421C>T rs74134797
NM_033056.4(PCDH15):c.*459A>G
NM_033056.4(PCDH15):c.*486G>A rs549184328
NM_033056.4(PCDH15):c.*510T>C
NM_033056.4(PCDH15):c.*512G>C rs571779869
NM_033056.4(PCDH15):c.*558T>A rs886047054
NM_033056.4(PCDH15):c.*600C>A
NM_033056.4(PCDH15):c.*64A>T rs188426462
NM_033056.4(PCDH15):c.*73C>T
NM_033056.4(PCDH15):c.*93T>C
NM_033056.4(PCDH15):c.-126G>A rs551107079
NM_033056.4(PCDH15):c.-155G>C rs886047069
NM_033056.4(PCDH15):c.-180C>T rs375866561
NM_033056.4(PCDH15):c.-288T>C rs566733932
NM_033056.4(PCDH15):c.-5A>G rs142016527
NM_033056.4(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436
NM_033056.4(PCDH15):c.1098+14A>G rs764625426
NM_033056.4(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269
NM_033056.4(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450
NM_033056.4(PCDH15):c.1172A>G (p.Gln391Arg) rs758680936
NM_033056.4(PCDH15):c.1179A>G (p.Pro393=)
NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164
NM_033056.4(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620
NM_033056.4(PCDH15):c.1263T>C (p.Thr421=) rs7921598
NM_033056.4(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.4(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146
NM_033056.4(PCDH15):c.1360G>A (p.Val454Ile) rs61735473
NM_033056.4(PCDH15):c.1362C>T (p.Val454=) rs61735479
NM_033056.4(PCDH15):c.1373G>A (p.Gly458Asp)
NM_033056.4(PCDH15):c.1440+11T>G
NM_033056.4(PCDH15):c.146A>G (p.Glu49Gly)
NM_033056.4(PCDH15):c.157+3A>G rs41274636
NM_033056.4(PCDH15):c.1590+15A>G rs565203752
NM_033056.4(PCDH15):c.1631T>G (p.Ile544Ser) rs886047066
NM_033056.4(PCDH15):c.1643T>G (p.Ile548Ser)
NM_033056.4(PCDH15):c.1649T>G (p.Val550Gly) rs61735482
NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.4(PCDH15):c.1757C>T (p.Ala586Val)
NM_033056.4(PCDH15):c.1780C>A (p.Arg594=)
NM_033056.4(PCDH15):c.1808T>C (p.Ile603Thr)
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.4(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.4(PCDH15):c.1934G>T (p.Gly645Val) rs763226433
NM_033056.4(PCDH15):c.1997C>T (p.Thr666Ile)
NM_033056.4(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515
NM_033056.4(PCDH15):c.2220+9A>G rs886047065
NM_033056.4(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033056.4(PCDH15):c.2445C>T (p.Asn815=) rs768200772
NM_033056.4(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551
NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.4(PCDH15):c.2581G>A (p.Val861Met) rs142512524
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.2685G>C (p.Leu895=)
NM_033056.4(PCDH15):c.2709A>G (p.Gly903=) rs886047064
NM_033056.4(PCDH15):c.2723G>A (p.Gly908Asp)
NM_033056.4(PCDH15):c.2768C>T (p.Pro923Leu) rs191577774
NM_033056.4(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720
NM_033056.4(PCDH15):c.2807C>T (p.Ala936Val) rs369029215
NM_033056.4(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.4(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.4(PCDH15):c.3195A>G (p.Gln1065=) rs776720353
NM_033056.4(PCDH15):c.3313C>A (p.Leu1105Ile)
NM_033056.4(PCDH15):c.3374-4C>T rs111739360
NM_033056.4(PCDH15):c.3450C>A (p.Ile1150=) rs146374856
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.4(PCDH15):c.3456T>C (p.Gly1152=) rs202091131
NM_033056.4(PCDH15):c.3501+7G>T rs756402556
NM_033056.4(PCDH15):c.3502-8C>T rs184144118
NM_033056.4(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.4(PCDH15):c.3555A>G (p.Ile1185Met)
NM_033056.4(PCDH15):c.3724G>A (p.Val1242Met) rs201137087
NM_033056.4(PCDH15):c.3782A>C (p.Glu1261Ala) rs201106387
NM_033056.4(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.4(PCDH15):c.3983+12T>C rs149867749
NM_033056.4(PCDH15):c.400C>A (p.Arg134=)
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.4(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449
NM_033056.4(PCDH15):c.4202+5G>A rs886047063
NM_033056.4(PCDH15):c.4260C>T (p.Pro1420=) rs775658931
NM_033056.4(PCDH15):c.4272A>G (p.Pro1424=) rs759109238
NM_033056.4(PCDH15):c.4275A>C (p.Ala1425=)
NM_033056.4(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.4(PCDH15):c.4385A>G (p.His1462Arg)
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.4(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_033056.4(PCDH15):c.466G>C (p.Val156Leu) rs534173969
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568
NM_033056.4(PCDH15):c.475-3C>T rs41304641
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu) rs56332160
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163
NM_033056.4(PCDH15):c.4993C>A (p.Pro1665Thr) rs886047062
NM_033056.4(PCDH15):c.5177C>T (p.Thr1726Ile) rs772619593
NM_033056.4(PCDH15):c.526G>A (p.Ala176Thr)
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.4(PCDH15):c.5313T>G (p.Ile1771Met) rs886047061
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579
NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu) rs759208006
NM_033056.4(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.4(PCDH15):c.5480G>T (p.Cys1827Phe) rs776844300
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe)
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5566G>A (p.Glu1856Lys) rs371269732
NM_033056.4(PCDH15):c.55T>G (p.Ser19Ala) rs11004439
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr) rs886047060
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.4(PCDH15):c.5726G>T (p.Arg1909Leu) rs145851144
NM_033056.4(PCDH15):c.575A>G (p.Gln192Arg) rs201496062
NM_033056.4(PCDH15):c.5824G>A (p.Glu1942Lys)
NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro) rs751586980
NM_033056.4(PCDH15):c.593C>T (p.Pro198Leu) rs145232643
NM_033056.4(PCDH15):c.594G>A (p.Pro198=) rs368308772
NM_033056.4(PCDH15):c.665A>G (p.Tyr222Cys) rs755845400
NM_033056.4(PCDH15):c.706-8C>T rs10740579
NM_033056.4(PCDH15):c.833G>A (p.Arg278His)
NM_033056.4(PCDH15):c.851C>T (p.Ala284Val) rs777071595
NM_033056.4(PCDH15):c.8G>A (p.Arg3Gln)
NM_033056.4(PCDH15):c.942A>G (p.Gln314=) rs149481989
NM_033056.4(PCDH15):c.944C>T (p.Pro315Leu)
NM_033056.4(PCDH15):c.952G>C (p.Asp318His)
NM_033056.4(PCDH15):c.960A>G (p.Pro320=) rs41274634
NM_033056.4(PCDH15):c.986-11A>G
NM_153676.4(USH1C):c.*110C>G
NM_153676.4(USH1C):c.*117C>G
NM_153676.4(USH1C):c.*131G>C
NM_153676.4(USH1C):c.*140C>T rs886048058
NM_153676.4(USH1C):c.*186C>T rs1055577
NM_153676.4(USH1C):c.*211A>G rs1055581
NM_153676.4(USH1C):c.*241C>G
NM_153676.4(USH1C):c.*376A>C rs886048057
NM_153676.4(USH1C):c.*405C>G rs11827649
NM_153676.4(USH1C):c.*427T>C
NM_153676.4(USH1C):c.*42C>T rs16934270
NM_153676.4(USH1C):c.*46T>C rs1055574
NM_153676.4(USH1C):c.*95C>T rs552838747
NM_153676.4(USH1C):c.-109A>T
NM_153676.4(USH1C):c.-60T>C rs371444878
NM_153676.4(USH1C):c.-60T>G
NM_153676.4(USH1C):c.-71T>G rs571065113
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409
NM_153676.4(USH1C):c.105-4A>G rs201374986
NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile)
NM_153676.4(USH1C):c.1085+7A>G
NM_153676.4(USH1C):c.1086-12G>A rs11024318
NM_153676.4(USH1C):c.1086-13G>T rs200490320
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487
NM_153676.4(USH1C):c.1211-1106G>A
NM_153676.4(USH1C):c.1211-1129G>A rs35188020
NM_153676.4(USH1C):c.1211-1134G>A rs115931035
NM_153676.4(USH1C):c.1211-1152G>A rs116996553
NM_153676.4(USH1C):c.1211-1175G>A rs143923730
NM_153676.4(USH1C):c.1211-1175G>C
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508
NM_153676.4(USH1C):c.192G>A (p.Pro64=) rs1040470628
NM_153676.4(USH1C):c.200C>T (p.Pro67Leu)
NM_153676.4(USH1C):c.2226+12C>T rs17703528
NM_153676.4(USH1C):c.2253G>A (p.Lys751=)
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2265C>G (p.Leu755=) rs151251262
NM_153676.4(USH1C):c.2280+15G>A rs886048059
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg)
NM_153676.4(USH1C):c.2378A>G (p.His793Arg) rs868121889
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932
NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp)
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489
NM_153676.4(USH1C):c.2490+12G>C rs2072232
NM_153676.4(USH1C):c.2490+6A>C
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703
NM_153676.4(USH1C):c.2541T>C (p.Asp847=)
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400
NM_153676.4(USH1C):c.464G>C (p.Arg155Pro) rs142730611
NM_153676.4(USH1C):c.496C>T (p.His166Tyr) rs367996370
NM_153676.4(USH1C):c.540C>T (p.Leu180=) rs145510974
NM_153676.4(USH1C):c.570G>A (p.Ser190=) rs756709989
NM_153676.4(USH1C):c.634G>A (p.Val212Ile) rs886048060
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543
NM_153676.4(USH1C):c.66G>A (p.Glu22=) rs768165881
NM_153676.4(USH1C):c.674+4G>A rs202095395
NM_153676.4(USH1C):c.684C>T (p.Ser228=) rs149172005
NM_153676.4(USH1C):c.759+10G>T rs368528034
NM_153676.4(USH1C):c.789C>G (p.Gly263=) rs376197674
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849
NM_153676.4(USH1C):c.819+10G>C rs41282936
NM_153676.4(USH1C):c.845G>A (p.Arg282His) rs779111365
NM_153676.4(USH1C):c.851T>A (p.Leu284Gln) rs756485601
NM_153676.4(USH1C):c.875C>G (p.Ala292Gly)
NM_153676.4(USH1C):c.880C>T (p.Arg294Trp) rs555152976
NM_153676.4(USH1C):c.881G>A (p.Arg294Gln) rs773481791
NM_153676.4(USH1C):c.883G>A (p.Glu295Lys) rs200127622
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln)
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155
NM_173477.5(USH1G):c.*1018G>A rs780234900
NM_173477.5(USH1G):c.*1052C>T
NM_173477.5(USH1G):c.*1053G>A rs113583471
NM_173477.5(USH1G):c.*1093= rs690566
NM_173477.5(USH1G):c.*1098T>A
NM_173477.5(USH1G):c.*1112C>T
NM_173477.5(USH1G):c.*1119G>A rs182142592
NM_173477.5(USH1G):c.*1130T>C
NM_173477.5(USH1G):c.*1154T>A
NM_173477.5(USH1G):c.*1174T>G
NM_173477.5(USH1G):c.*1191G>A
NM_173477.5(USH1G):c.*1224A>C rs111922548
NM_173477.5(USH1G):c.*1303C>T rs1013013
NM_173477.5(USH1G):c.*1376G>A
NM_173477.5(USH1G):c.*1447C>T
NM_173477.5(USH1G):c.*1656T>C rs8067775
NM_173477.5(USH1G):c.*1719G>T rs886053384
NM_173477.5(USH1G):c.*1732C>T rs886053383
NM_173477.5(USH1G):c.*1821C>G
NM_173477.5(USH1G):c.*1900G>C rs1568448
NM_173477.5(USH1G):c.*1922A>G
NM_173477.5(USH1G):c.*1987C>T rs886053381
NM_173477.5(USH1G):c.*198T>C
NM_173477.5(USH1G):c.*202G>A rs557845589
NM_173477.5(USH1G):c.*233C>G
NM_173477.5(USH1G):c.*256C>T
NM_173477.5(USH1G):c.*279G>T rs886053387
NM_173477.5(USH1G):c.*482C>T
NM_173477.5(USH1G):c.*498G>A rs569461974
NM_173477.5(USH1G):c.*49C>T rs199648830
NM_173477.5(USH1G):c.*553A>C rs111899313
NM_173477.5(USH1G):c.*567C>G
NM_173477.5(USH1G):c.*571T>A rs111611253
NM_173477.5(USH1G):c.*63C>T rs113765180
NM_173477.5(USH1G):c.*680C>G
NM_173477.5(USH1G):c.*704G>A
NM_173477.5(USH1G):c.*776G>A
NM_173477.5(USH1G):c.*809C>A rs886053386
NM_173477.5(USH1G):c.*831C>T
NM_173477.5(USH1G):c.*940C>G
NM_173477.5(USH1G):c.*95C>G rs886053388
NM_173477.5(USH1G):c.-173G>C rs570755897
NM_173477.5(USH1G):c.-2C>T rs758940726
NM_173477.5(USH1G):c.-76A>G
NM_173477.5(USH1G):c.-8C>T rs769903865
NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn)
NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser)
NM_173477.5(USH1G):c.1152C>T (p.Asp384=) rs569032124
NM_173477.5(USH1G):c.1170C>T (p.Ser390=) rs199724052
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506
NM_173477.5(USH1G):c.126T>C (p.His42=)
NM_173477.5(USH1G):c.327C>T (p.Gly109=)
NM_173477.5(USH1G):c.344G>A (p.Arg115His) rs775117744
NM_173477.5(USH1G):c.348C>T (p.Tyr116=) rs886053390
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys) rs111033466
NM_173477.5(USH1G):c.424G>C (p.Glu142Gln)
NM_173477.5(USH1G):c.436C>T (p.Arg146Cys) rs141791769
NM_173477.5(USH1G):c.474C>G (p.His158Gln) rs765860407
NM_173477.5(USH1G):c.478C>G (p.Arg160Gly) rs376527217
NM_173477.5(USH1G):c.501C>G (p.Arg167=) rs141688757
NM_173477.5(USH1G):c.563G>T (p.Arg188Leu) rs201123735
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) rs201644674
NM_173477.5(USH1G):c.635G>C (p.Gly212Ala)
NM_173477.5(USH1G):c.644del (p.Lys215fs) rs1567940040
NM_173477.5(USH1G):c.753C>T (p.Ser251=) rs886053389
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362

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