NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
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rs201502401
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0.00020
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NM_001378615.1(CC2D2A):c.1017+1G>A
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rs200407856
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0.00008
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NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)
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rs377177061
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0.00006
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NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
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rs760676442
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0.00002
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NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)
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rs386833755
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0.00002
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NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)
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rs779823379
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0.00002
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NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His)
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rs886940102
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0.00002
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NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
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rs781252161
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0.00001
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NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
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rs773881370
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0.00001
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NM_001378615.1(CC2D2A):c.3594+5G>A
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rs863225181
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0.00001
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NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter)
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rs1271825377
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0.00001
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NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)
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rs763486732
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0.00001
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NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)
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rs780190318
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0.00001
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NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter)
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rs761213221
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0.00001
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NM_001080522.2(CC2D2A):c.3597_3600del
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NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
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NM_001378615.1(CC2D2A):c.1082del (p.Pro361fs)
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NM_001378615.1(CC2D2A):c.1140_1141del (p.Leu380_Tyr381insTer)
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NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter)
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rs2108970120
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NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
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rs1560166511
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NM_001378615.1(CC2D2A):c.1359+1G>A
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NM_001378615.1(CC2D2A):c.1359+1G>C
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NM_001378615.1(CC2D2A):c.1363C>T (p.Gln455Ter)
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NM_001378615.1(CC2D2A):c.1365del (p.Ala456fs)
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NM_001378615.1(CC2D2A):c.1705C>T (p.Gln569Ter)
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NM_001378615.1(CC2D2A):c.1932dup (p.Pro645fs)
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NM_001378615.1(CC2D2A):c.1938G>A (p.Trp646Ter)
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NM_001378615.1(CC2D2A):c.1988_1991dup (p.Asp664delinsGluTer)
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NM_001378615.1(CC2D2A):c.199del (p.Glu67fs)
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rs1433294475
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NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)
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rs763596840
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NM_001378615.1(CC2D2A):c.2075_2078dup (p.Ser694fs)
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NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs)
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rs1471484901
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NM_001378615.1(CC2D2A):c.2339-1G>A
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NM_001378615.1(CC2D2A):c.2440dup (p.Ile814fs)
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NM_001378615.1(CC2D2A):c.2444del (p.Pro815fs)
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NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter)
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rs1560180188
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NM_001378615.1(CC2D2A):c.2568del (p.Glu857fs)
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NM_001378615.1(CC2D2A):c.2581G>A (p.Asp861Asn)
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NM_001378615.1(CC2D2A):c.2625+1G>A
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rs1577372471
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NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=)
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rs765873247
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NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
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rs764719093
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NM_001378615.1(CC2D2A):c.2686G>T (p.Glu896Ter)
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NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro)
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rs200707391
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NM_001378615.1(CC2D2A):c.278del (p.Thr93fs)
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NM_001378615.1(CC2D2A):c.2999_3000inv (p.Glu1000Val)
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NM_001378615.1(CC2D2A):c.3014+1del
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NM_001378615.1(CC2D2A):c.3100del (p.Gln1034fs)
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NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs)
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rs1560184664
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NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs)
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rs2109070129
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NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)
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rs1719933188
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NM_001378615.1(CC2D2A):c.3280del (p.Leu1094fs)
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NM_001378615.1(CC2D2A):c.3317_3318del (p.Ser1106fs)
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NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
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rs118204051
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NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter)
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NM_001378615.1(CC2D2A):c.3588del (p.Ala1197fs)
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rs982352950
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NM_001378615.1(CC2D2A):c.3679_3682del (p.Asp1227fs)
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NM_001378615.1(CC2D2A):c.3784G>T (p.Glu1262Ter)
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NM_001378615.1(CC2D2A):c.391_404delinsC (p.Ser133fs)
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NM_001378615.1(CC2D2A):c.3920_3960dup (p.Leu1321Ter)
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NM_001378615.1(CC2D2A):c.3976-3C>A
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rs576298659
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NM_001378615.1(CC2D2A):c.4066-2del
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NM_001378615.1(CC2D2A):c.4084dup (p.Ala1362fs)
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rs1313708855
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NM_001378615.1(CC2D2A):c.41del (p.Glu14fs)
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NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)
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rs863225176
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NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
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NM_001378615.1(CC2D2A):c.4315-1G>T
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NM_001378615.1(CC2D2A):c.4522del (p.Ile1508fs)
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rs775292940
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NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly)
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rs1577406415
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NM_001378615.1(CC2D2A):c.4590del (p.Leu1531fs)
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NM_001378615.1(CC2D2A):c.4609dup (p.Ser1537fs)
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NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter)
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NM_001378615.1(CC2D2A):c.4645del (p.Glu1549fs)
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NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs)
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rs1392635342
|
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NM_001378615.1(CC2D2A):c.715del (p.Met239fs)
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NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)
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NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)
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rs386833765
|
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NM_001378615.1(CC2D2A):c.839del (p.Gln280fs)
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NM_001378615.1(CC2D2A):c.977del (p.Asn326fs)
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NM_001378615.1(CC2D2A):c.979C>T (p.Gln327Ter)
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