NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)
|
rs111033480
|
0.00142
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)
|
rs201076440
|
0.00039
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_022124.6(CDH23):c.2587+35C>T
|
rs186492861
|
0.00026
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu)
|
rs373168635
|
0.00009
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00009
|
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp)
|
rs397517344
|
0.00008
|
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)
|
rs780987516
|
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.6512G>A (p.Arg2171His)
|
rs531513127
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_022124.6(CDH23):c.429+4G>A
|
rs397517328
|
0.00003
|
NM_022124.6(CDH23):c.5187+1G>A
|
rs1280991447
|
0.00003
|
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile)
|
rs397517340
|
0.00003
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00003
|
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu)
|
rs778251205
|
0.00002
|
NM_022124.6(CDH23):c.1515-12G>A
|
rs369396703
|
0.00002
|
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)
|
rs770665588
|
0.00002
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)
|
rs750880909
|
0.00002
|
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)
|
rs369501114
|
0.00002
|
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln)
|
rs547034667
|
0.00002
|
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp)
|
rs727504455
|
0.00001
|
NM_022124.6(CDH23):c.1752+1G>A
|
rs1347367555
|
0.00001
|
NM_022124.6(CDH23):c.2177-2A>G
|
rs1377982927
|
0.00001
|
NM_022124.6(CDH23):c.2398-1G>T
|
rs751788879
|
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.3220G>A (p.Asp1074Asn)
|
rs750452808
|
0.00001
|
NM_022124.6(CDH23):c.4504C>T (p.Arg1502Ter)
|
rs769742202
|
0.00001
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319
|
0.00001
|
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)
|
rs1057519500
|
0.00001
|
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)
|
rs773004408
|
0.00001
|
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)
|
rs397517342
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.6533T>A (p.Ile2178Asn)
|
rs772953914
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer)
|
rs1278603247
|
0.00001
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00001
|
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser)
|
rs780917129
|
0.00001
|
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)
|
rs936479651
|
0.00001
|
NM_022124.6(CDH23):c.8146del (p.Asp2716fs)
|
rs1564804195
|
0.00001
|
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met)
|
rs556148352
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
NC_000010.10:g.(73454017_73455174)_73468962del
|
|
|
NC_000010.10:g.(?_73206055)_(73206172_?)del
|
|
|
NC_000010.10:g.(?_73269819)_(73270989_?)dup
|
|
|
NC_000010.10:g.(?_73269829)_(73405747_?)dup
|
|
|
NC_000010.10:g.(?_73337661)_(73337759_?)dup
|
|
|
NC_000010.10:g.(?_73537417)_(73551112_?)dup
|
|
|
NC_000010.11:g.(?_71645831)_(71646617_?)del
|
|
|
NC_000010.11:g.71645832del
|
rs1589292855
|
|
NM_022124.6(CDH23):c.1025A>G (p.Asn342Ser)
|
|
|
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser)
|
rs1060499791
|
|
NM_022124.6(CDH23):c.1087del (p.Val363fs)
|
rs747955135
|
|
NM_022124.6(CDH23):c.1120_1123del (p.Val374fs)
|
|
|
NM_022124.6(CDH23):c.1134+1G>A
|
|
|
NM_022124.6(CDH23):c.1135-2A>C
|
|
|
NM_022124.6(CDH23):c.1140+1G>C
|
rs771002870
|
|
NM_022124.6(CDH23):c.1140+1G>T
|
|
|
NM_022124.6(CDH23):c.1141-1G>A
|
rs2132594619
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
|
|
|
NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del)
|
rs397517305
|
|
NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs)
|
rs1862873659
|
|
NM_022124.6(CDH23):c.1428dup (p.Thr477fs)
|
rs750803248
|
|
NM_022124.6(CDH23):c.1447delinsTTT (p.Leu483fs)
|
|
|
NM_022124.6(CDH23):c.1449+5G>A
|
|
|
NM_022124.6(CDH23):c.145+1G>T
|
rs1850169561
|
|
NM_022124.6(CDH23):c.1514+1G>A
|
rs2132664539
|
|
NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)
|
|
|
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser)
|
rs1060499792
|
|
NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter)
|
rs779974496
|
|
NM_022124.6(CDH23):c.1752+2T>C
|
rs1864433756
|
|
NM_022124.6(CDH23):c.1859-1G>T
|
rs1274105133
|
|
NM_022124.6(CDH23):c.1859-2A>G
|
|
|
NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu)
|
|
|
NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter)
|
|
|
NM_022124.6(CDH23):c.1936del (p.Ala646fs)
|
|
|
NM_022124.6(CDH23):c.1950del (p.Leu651fs)
|
|
|
NM_022124.6(CDH23):c.1986+3A>T
|
rs2132682822
|
|
NM_022124.6(CDH23):c.1987-1G>T
|
|
|
NM_022124.6(CDH23):c.2059+1G>T
|
|
|
NM_022124.6(CDH23):c.2060-1G>A
|
rs1865145294
|
|
NM_022124.6(CDH23):c.2132_2139del (p.Ile710_Tyr711insTer)
|
rs1865149889
|
|
NM_022124.6(CDH23):c.2161_2166delinsGTGA (p.Ile721fs)
|
|
|
NM_022124.6(CDH23):c.2176+1G>A
|
|
|
NM_022124.6(CDH23):c.2289+1G>C
|
|
|
NM_022124.6(CDH23):c.2290-1G>A
|
|
|
NM_022124.6(CDH23):c.2334G>A (p.Trp778Ter)
|
rs868188730
|
|
NM_022124.6(CDH23):c.2349C>G (p.Tyr783Ter)
|
rs1589344004
|
|
NM_022124.6(CDH23):c.2394del (p.Thr799fs)
|
|
|
NM_022124.6(CDH23):c.2397+1G>A
|
|
|
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn)
|
rs1554857840
|
|
NM_022124.6(CDH23):c.2527del (p.Glu843fs)
|
|
|
NM_022124.6(CDH23):c.2587+1G>A
|
|
|
NM_022124.6(CDH23):c.2587+1G>C
|
|
|
NM_022124.6(CDH23):c.2588-1G>A
|
|
|
NM_022124.6(CDH23):c.2588-1G>T
|
rs2132732963
|
|
NM_022124.6(CDH23):c.2701G>A (p.Glu901Lys)
|
rs876657636
|
|
NM_022124.6(CDH23):c.2733+1G>A
|
rs2132733452
|
|
NM_022124.6(CDH23):c.2753A>T (p.Asp918Val)
|
|
|
NM_022124.6(CDH23):c.2844dup (p.Thr949fs)
|
|
|
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly)
|
rs2132740263
|
|
NM_022124.6(CDH23):c.288+2T>C
|
|
|
NM_022124.6(CDH23):c.289-1G>A
|
|
|
NM_022124.6(CDH23):c.2922del (p.Lys975fs)
|
rs1338446830
|
|
NM_022124.6(CDH23):c.2953+1G>A
|
|
|
NM_022124.6(CDH23):c.2954-2A>G
|
|
|
NM_022124.6(CDH23):c.2956del (p.Leu986fs)
|
rs2132745856
|
|
NM_022124.6(CDH23):c.2984del (p.Phe995fs)
|
rs1554858698
|
|
NM_022124.6(CDH23):c.3106+2T>G
|
|
|
NM_022124.6(CDH23):c.3176A>T (p.Asp1059Val)
|
rs1865887896
|
|
NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys)
|
rs2132751512
|
|
NM_022124.6(CDH23):c.3215C>A (p.Ala1072Asp)
|
rs2132751525
|
|
NM_022124.6(CDH23):c.3220+1G>A
|
rs1487026359
|
|
NM_022124.6(CDH23):c.3220+1G>T
|
rs1487026359
|
|
NM_022124.6(CDH23):c.336+1G>T
|
rs764824311
|
|
NM_022124.6(CDH23):c.336+1del
|
|
|
NM_022124.6(CDH23):c.345_346del (p.Arg116fs)
|
|
|
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)
|
rs876657754
|
|
NM_022124.6(CDH23):c.4210-1G>A
|
rs1166948274
|
|
NM_022124.6(CDH23):c.4210-2A>G
|
rs557620034
|
|
NM_022124.6(CDH23):c.429+2T>C
|
rs763595608
|
|
NM_022124.6(CDH23):c.4300del (p.Val1434fs)
|
|
|
NM_022124.6(CDH23):c.4332G>A (p.Trp1444Ter)
|
|
|
NM_022124.6(CDH23):c.4426del (p.Ile1476fs)
|
|
|
NM_022124.6(CDH23):c.4428del (p.Ile1476fs)
|
|
|
NM_022124.6(CDH23):c.4440del (p.Phe1480fs)
|
|
|
NM_022124.6(CDH23):c.4471dup (p.Asp1491fs)
|
|
|
NM_022124.6(CDH23):c.4489-1G>A
|
rs2132846050
|
|
NM_022124.6(CDH23):c.4565A>T (p.Asp1522Val)
|
|
|
NM_022124.6(CDH23):c.4617+1G>A
|
rs2132846322
|
|
NM_022124.6(CDH23):c.4617+2T>C
|
rs1839717773
|
|
NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs)
|
|
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
rs137937502
|
|
NM_022124.6(CDH23):c.478del (p.Asp160fs)
|
rs2132358279
|
|
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=)
|
rs542618168
|
|
NM_022124.6(CDH23):c.4863C>G (p.Tyr1621Ter)
|
|
|
NM_022124.6(CDH23):c.489del (p.Gly165fs)
|
|
|
NM_022124.6(CDH23):c.494G>T (p.Gly165Val)
|
rs776354402
|
|
NM_022124.6(CDH23):c.5067+1G>A
|
|
|
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
|
|
|
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer)
|
rs2132927249
|
|
NM_022124.6(CDH23):c.5149T>C (p.Cys1717Arg)
|
rs552998089
|
|
NM_022124.6(CDH23):c.5187+2T>C
|
rs986154966
|
|
NM_022124.6(CDH23):c.5188-1G>A
|
|
|
NM_022124.6(CDH23):c.5188-2A>G
|
rs2132929231
|
|
NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs)
|
|
|
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs)
|
rs2132929769
|
|
NM_022124.6(CDH23):c.5368+2T>C
|
|
|
NM_022124.6(CDH23):c.5369-1G>A
|
rs1564791773
|
|
NM_022124.6(CDH23):c.5369-2A>G
|
rs2132938020
|
|
NM_022124.6(CDH23):c.5502+1G>A
|
|
|
NM_022124.6(CDH23):c.5502+2T>G
|
|
|
NM_022124.6(CDH23):c.5503-1G>T
|
|
|
NM_022124.6(CDH23):c.5503-2A>G
|
rs2132939079
|
|
NM_022124.6(CDH23):c.5534A>G (p.Asn1845Ser)
|
|
|
NM_022124.6(CDH23):c.562dup (p.Thr188fs)
|
rs1857435780
|
|
NM_022124.6(CDH23):c.5712+1G>A
|
rs397517341
|
|
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)
|
rs1060499789
|
|
NM_022124.6(CDH23):c.5820+2T>C
|
|
|
NM_022124.6(CDH23):c.5820+5G>A
|
rs2132940635
|
|
NM_022124.6(CDH23):c.5821-1G>A
|
|
|
NM_022124.6(CDH23):c.5908G>A (p.Glu1970Lys)
|
rs2132945762
|
|
NM_022124.6(CDH23):c.5924-1G>A
|
rs1841212177
|
|
NM_022124.6(CDH23):c.5924-2A>C
|
rs2132947899
|
|
NM_022124.6(CDH23):c.5931del (p.Leu1978fs)
|
|
|
NM_022124.6(CDH23):c.5976del (p.Asp1993fs)
|
|
|
NM_022124.6(CDH23):c.6049+1G>A
|
rs111033247
|
|
NM_022124.6(CDH23):c.6050-1G>A
|
rs762805265
|
|
NM_022124.6(CDH23):c.6067_6070dup (p.Gly2024fs)
|
rs1564795354
|
|
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
|
rs762226905
|
|
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn)
|
rs121908348
|
|
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro)
|
rs762118583
|
|
NM_022124.6(CDH23):c.624+1G>A
|
|
|
NM_022124.6(CDH23):c.624+2T>C
|
|
|
NM_022124.6(CDH23):c.6253+1G>A
|
rs1554874373
|
|
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs)
|
rs2132953243
|
|
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs)
|
rs2132953252
|
|
NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs)
|
|
|
NM_022124.6(CDH23):c.6344del (p.Arg2115fs)
|
rs1589424694
|
|
NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs)
|
|
|
NM_022124.6(CDH23):c.6379G>T (p.Val2127Phe)
|
rs765026901
|
|
NM_022124.6(CDH23):c.6412del (p.Glu2138fs)
|
rs111033473
|
|
NM_022124.6(CDH23):c.6435_6463del (p.Ala2146fs)
|
rs1841315122
|
|
NM_022124.6(CDH23):c.6449del (p.Gly2150fs)
|
rs1564796673
|
|
NM_022124.6(CDH23):c.6464C>A (p.Ser2155Ter)
|
|
|
NM_022124.6(CDH23):c.6516del (p.Glu2173fs)
|
|
|
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp)
|
rs2132954257
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022124.6(CDH23):c.6675dup (p.Asn2226fs)
|
|
|
NM_022124.6(CDH23):c.6676_6677insTT (p.Asn2226fs)
|
|
|
NM_022124.6(CDH23):c.66G>A (p.Trp22Ter)
|
|
|
NM_022124.6(CDH23):c.67+1G>A
|
|
|
NM_022124.6(CDH23):c.6712+2T>C
|
|
|
NM_022124.6(CDH23):c.6713-1G>A
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NM_022124.6(CDH23):c.6821_6822del (p.Val2274fs)
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NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
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rs1200012430
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NM_022124.6(CDH23):c.6838_6841del (p.Thr2280fs)
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rs1841460358
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NM_022124.6(CDH23):c.683A>T (p.Asp228Val)
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rs1060499788
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NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)
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rs876657756
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NM_022124.6(CDH23):c.6942del (p.Leu2315fs)
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NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)
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NM_022124.6(CDH23):c.6965A>T (p.Asp2322Val)
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NM_022124.6(CDH23):c.6992T>C (p.Val2331Ala)
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rs2132965891
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NM_022124.6(CDH23):c.7022del (p.Pro2341fs)
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NM_022124.6(CDH23):c.702dup (p.Ile235fs)
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NM_022124.6(CDH23):c.7054+1G>A
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rs1057524265
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NM_022124.6(CDH23):c.7225-1G>A
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rs1064795722
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NM_022124.6(CDH23):c.7225-2A>C
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NM_022124.6(CDH23):c.7225-2A>G
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rs2132968572
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NM_022124.6(CDH23):c.7258del (p.Ile2420fs)
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NM_022124.6(CDH23):c.7362+1G>A
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rs2132968839
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NM_022124.6(CDH23):c.7482+2T>C
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rs2132971828
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NM_022124.6(CDH23):c.7483-1G>A
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NM_022124.6(CDH23):c.7483-1G>C
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rs876657682
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NM_022124.6(CDH23):c.753+1G>A
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rs1857755312
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NM_022124.6(CDH23):c.754-2A>G
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rs2132400338
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NM_022124.6(CDH23):c.7558G>A (p.Glu2520Lys)
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NM_022124.6(CDH23):c.7568del (p.Pro2523fs)
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NM_022124.6(CDH23):c.7624_7630del (p.Asn2541_Gly2542insTer)
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NM_022124.6(CDH23):c.778G>A (p.Ala260Thr)
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rs373294595
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NM_022124.6(CDH23):c.7826C>T (p.Pro2609Leu)
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NM_022124.6(CDH23):c.7841del (p.Pro2614fs)
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NM_022124.6(CDH23):c.7872+2T>A
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NM_022124.6(CDH23):c.7872+2T>C
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rs766906353
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NM_022124.6(CDH23):c.7873-1G>A
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NM_022124.6(CDH23):c.7902_7903insTTACGAG (p.Val2635fs)
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rs1221464948
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NM_022124.6(CDH23):c.790G>T (p.Asp264Tyr)
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NM_022124.6(CDH23):c.8140G>T (p.Asp2714Tyr)
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rs2132985083
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NM_022124.6(CDH23):c.8179-1G>A
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rs2132987509
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NM_022124.6(CDH23):c.8197C>T (p.Gln2733Ter)
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rs1841758961
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NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro)
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rs1060499790
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NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs)
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NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser)
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rs397517356
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NM_022124.6(CDH23):c.8308+1G>A
|
rs757675676
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NM_022124.6(CDH23):c.8309-1G>A
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|
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NM_022124.6(CDH23):c.832+1G>A
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|
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NM_022124.6(CDH23):c.833G>A (p.Gly278Glu)
|
rs1861130719
|
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NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs)
|
rs1564805114
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NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
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NM_022124.6(CDH23):c.8377C>T (p.Arg2793Trp)
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NM_022124.6(CDH23):c.8443del (p.Arg2815fs)
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|
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NM_022124.6(CDH23):c.849del (p.Phe284fs)
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rs1861132418
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NM_022124.6(CDH23):c.8532_8533del (p.Arg2845fs)
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|
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NM_022124.6(CDH23):c.8560+1G>A
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|
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NM_022124.6(CDH23):c.8561-1G>A
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rs2132990173
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NM_022124.6(CDH23):c.8590G>T (p.Glu2864Ter)
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|
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NM_022124.6(CDH23):c.860_863dup (p.Tyr288Ter)
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NM_022124.6(CDH23):c.871G>A (p.Gly291Arg)
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rs767343063
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NM_022124.6(CDH23):c.871G>T (p.Gly291Ter)
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rs767343063
|
|
NM_022124.6(CDH23):c.8722+1G>A
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|
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NM_022124.6(CDH23):c.8722+2T>G
|
rs2132990828
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NM_022124.6(CDH23):c.8723-2A>G
|
|
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NM_022124.6(CDH23):c.8764del (p.Ala2922fs)
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|
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NM_022124.6(CDH23):c.8979+1G>A
|
rs2132996862
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NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del)
|
rs786205612
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NM_022124.6(CDH23):c.9078-2A>G
|
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NM_022124.6(CDH23):c.9109C>T (p.Gln3037Ter)
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|
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NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val)
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|
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NM_022124.6(CDH23):c.913del (p.Leu305fs)
|
rs1393567447
|
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NM_022124.6(CDH23):c.9176del (p.Pro3059fs)
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rs1554877806
|
|
NM_022124.6(CDH23):c.9198+2T>A
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rs1841921374
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NM_022124.6(CDH23):c.9199-1G>A
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rs2133002032
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NM_022124.6(CDH23):c.9264G>A (p.Trp3088Ter)
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|
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NM_022124.6(CDH23):c.9270C>G (p.Tyr3090Ter)
|
rs1564807887
|
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NM_022124.6(CDH23):c.9278+2T>A
|
|
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NM_022124.6(CDH23):c.9278+2T>G
|
rs2133002381
|
|
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs)
|
rs1564808024
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NM_022124.6(CDH23):c.9320-1G>A
|
rs1589438942
|
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NM_022124.6(CDH23):c.9381-2A>G
|
|
|
NM_022124.6(CDH23):c.945+1G>C
|
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NM_022124.6(CDH23):c.946-1G>A
|
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NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
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|
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NM_022124.6(CDH23):c.9511-1G>A
|
rs1293118415
|
|
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter)
|
rs773464867
|
|
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
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|
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NM_022124.6(CDH23):c.9738+1G>T
|
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