NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
|
rs141287105
|
0.00406
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe)
|
rs201563576
|
0.00172
|
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly)
|
rs201829296
|
0.00076
|
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro)
|
rs200460601
|
0.00035
|
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val)
|
rs201860217
|
0.00029
|
NM_147127.5(EVC2):c.2416G>A (p.Val806Met)
|
rs138128087
|
0.00028
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_147127.5(EVC2):c.3696G>T (p.Arg1232Ser)
|
rs150551872
|
0.00005
|
NM_024600.6(TMEM204):c.539C>T (p.Thr180Met)
|
rs369025963
|
0.00004
|
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp)
|
rs368371226
|
0.00002
|
NM_147127.5(EVC2):c.973T>C (p.Cys325Arg)
|
rs1467471693
|
0.00002
|
NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter)
|
rs773156346
|
0.00001
|
NM_001199397.3(NEK1):c.3295G>C (p.Asp1099His)
|
rs765205496
|
0.00001
|
NM_001329943.3(KIAA0586):c.4324-1G>A
|
rs753649082
|
0.00001
|
NM_001377.3(DYNC2H1):c.11048C>T (p.Pro3683Leu)
|
rs1297881996
|
0.00001
|
NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter)
|
rs772321133
|
0.00001
|
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln)
|
rs397514635
|
0.00001
|
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)
|
rs766316995
|
0.00001
|
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter)
|
rs202024173
|
0.00001
|
NM_024753.5(TTC21B):c.3460-3T>C
|
rs754665883
|
0.00001
|
NM_024753.5(TTC21B):c.368G>A (p.Arg123His)
|
rs370484375
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:1557663-1561126)
|
|
|
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
|
|
|
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)
|
rs574204412
|
|
NM_001375405.1(CEP120):c.2740G>A (p.Glu914Lys)
|
rs1768853529
|
|
NM_001375405.1(CEP120):c.762del (p.Ser254fs)
|
rs1772529903
|
|
NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe)
|
rs886042136
|
|
NM_001377.3(DYNC2H1):c.4231T>C (p.Cys1411Arg)
|
rs1860951602
|
|
NM_001377.3(DYNC2H1):c.4360C>A (p.Leu1454Met)
|
|
|
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter)
|
rs754919042
|
|
NM_001377.3(DYNC2H1):c.61T>G (p.Phe21Val)
|
rs1858012761
|
|
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)
|
rs1437320571
|
|
NM_001377.3(DYNC2H1):c.970C>T (p.Leu324Phe)
|
rs1858493502
|
|
NM_014055.4(IFT81):c.1717-2A>G
|
rs1868517084
|
|
NM_015662.3(IFT172):c.1524+2_1524+3del
|
rs769575051
|
|
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu)
|
rs368497711
|
|
NM_052844.4(DYNC2I2):c.1171C>G (p.His391Asp)
|
rs537004785
|
|
NM_147127.5(EVC2):c.1374T>G (p.Cys458Trp)
|
rs1717255624
|
|
NM_147127.5(EVC2):c.2959G>A (p.Ala987Thr)
|
rs750392808
|
|
NM_153717.3(EVC):c.1078T>C (p.Ser360Pro)
|
rs1729675412
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.493A>G (p.Ser165Gly)
|
rs1259803475
|
|