NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)
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rs111033480
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0.00142
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NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
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rs111033536
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0.00037
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NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
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rs201475055
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0.00029
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NM_022124.6(CDH23):c.2587+35C>T
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rs186492861
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0.00026
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NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
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rs111033270
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0.00016
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NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
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rs111033271
|
0.00010
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NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
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rs181611778
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0.00007
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NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
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rs370983472
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0.00006
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NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)
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rs727502936
|
0.00004
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NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
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rs368496658
|
0.00003
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NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile)
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rs397517340
|
0.00003
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NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
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rs121908353
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0.00003
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NM_022124.6(CDH23):c.1515-12G>A
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rs369396703
|
0.00002
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NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
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rs771766431
|
0.00001
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NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
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rs397517349
|
0.00001
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NM_022124.6(CDH23):c.8290G>A (p.Val2764Met)
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rs556148352
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
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rs121908355
|
0.00001
|
GRCh37/hg19 10q22.1(chr10:73405588-73406374)x1
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NC_000010.10:g.(73454017_73455174)_73468962del
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NC_000010.11:g.(?_71645831)_(71646617_?)del
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NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
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NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)
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|
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NM_022124.6(CDH23):c.1623_1626dup (p.Thr543fs)
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NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu)
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|
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NM_022124.6(CDH23):c.1949dup (p.Leu651fs)
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rs753886326
|
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NM_022124.6(CDH23):c.2878dup (p.Glu960fs)
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|
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NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)
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rs876657754
|
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NM_022124.6(CDH23):c.5067+1G>A
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NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs)
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rs2132929769
|
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NM_022124.6(CDH23):c.5535C>A (p.Asn1845Lys)
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rs779425775
|
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NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
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rs762226905
|
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NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
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NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
|
rs1200012430
|
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NM_022124.6(CDH23):c.8_9del (p.Arg3fs)
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|
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NM_022124.6(CDH23):c.913del (p.Leu305fs)
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rs1393567447
|
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NM_022124.6(CDH23):c.9278+2T>A
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