|
NM_014994.3(MAPKBP1):c.3304C>T (p.Arg1102Cys)
|
rs141086610
|
0.00048
|
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
|
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)
|
rs199689137
|
0.00011
|
|
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter)
|
rs201037487
|
0.00004
|
|
NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro)
|
rs367600930
|
0.00003
|
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
|
NM_000085.5(CLCNKB):c.1324G>A (p.Glu442Lys)
|
|
|
|
NM_000085.5(CLCNKB):c.1408G>C (p.Gly470Arg)
|
|
|
|
NM_000338.3(SLC12A1):c.1166C>T (p.Pro389Leu)
|
|
|
|
NM_000338.3(SLC12A1):c.1834G>A (p.Gly612Arg)
|
rs2041650191
|
|
|
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)
|
rs121912691
|
|
|
NM_001023570.4(IQCB1):c.1540dup (p.Ile514fs)
|
|
|
|
NM_001126108.2(SLC12A3):c.1406C>T (p.Ala469Val)
|
|
|
|
NM_001126108.2(SLC12A3):c.43_44del (p.Leu15fs)
|
rs2144677696
|
|
|
NM_001127898.4(CLCN5):c.1869dup (p.Arg624fs)
|
|
|
|
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter)
|
rs1049618423
|
|
|
NM_001199397.3(NEK1):c.1691del (p.Met564fs)
|
|
|
|
NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter)
|
rs1744312712
|
|
|
NM_001376.5(DYNC1H1):c.6208G>A (p.Val2070Ile)
|
|
|
|
NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg)
|
rs886039812
|
|
|
NM_001377.3(DYNC2H1):c.4069_4070insT (p.Gly1357fs)
|
|
|
|
NM_001377.3(DYNC2H1):c.5445dup (p.Ala1816fs)
|
|
|
|
NM_001377.3(DYNC2H1):c.6035C>T (p.Ala2012Val)
|
|
|
|
NM_001377.3(DYNC2H1):c.8484_8485del (p.Gly2829fs)
|
|
|
|
NM_002241.5(KCNJ10):c.170C>T (p.Thr57Ile)
|
|
|
|
NM_006580.4(CLDN16):c.436C>T (p.Arg146Cys)
|
|
|
|
NM_014425.5(INVS):c.875C>T (p.Pro292Leu)
|
rs1831916010
|
|
|
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])
|
rs746697405
|
|
|
NM_014994.3(MAPKBP1):c.2227C>T (p.Gln743Ter)
|
|
|
|
NM_016356.5(DCDC2):c.223_293del (p.Arg75fs)
|
rs1760494153
|
|
|
NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter)
|
|
|
|
NM_018051.5(DYNC2I1):c.772_775del (p.Glu258fs)
|
rs1843823774
|
|
|
NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu)
|
rs899172501
|
|
|
NM_020632.3(ATP6V0A4):c.1479-1G>A
|
|
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
|
NM_024753.5(TTC21B):c.1176_1185del (p.Lys393fs)
|
|
|
|
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)
|
rs886039814
|
|
|
NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr)
|
rs1730093487
|
|
|
NM_052989.3(IFT122):c.1715G>T (p.Gly572Val)
|
rs786205566
|
|
|
NM_080425.4(GNAS):c.648del (p.Gly215_Tyr216insTer)
|
|
|
|
NM_152766.5(TMEM256):c.244_265del (p.Phe82fs)
|
rs886039795
|
|
|
NM_153240.5(NPHP3):c.3419dup (p.Asn1140fs)
|
rs1939111919
|
|
|
NM_153717.3(EVC):c.1363C>T (p.Gln455Ter)
|
|
|
|
NM_153717.3(EVC):c.2450-1G>A
|
rs1715585498
|
|
|
NM_153717.3(EVC):c.801del (p.Asp268fs)
|
|
|
|
NM_153766.3(KCNJ1):c.240G>A (p.Trp80Ter)
|
|
|
|
NM_153766.3(KCNJ1):c.240_242delinsCTT (p.Trp80_Tyr81delinsCysPhe)
|
|
|
|
NM_173551.5(ANKS6):c.2142G>T (p.Lys714Asn)
|
|
|