|
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)
|
rs200443942
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)
|
rs1022325907
|
0.00002
|
|
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)
|
rs760916142
|
0.00001
|
|
NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn)
|
rs1268538634
|
0.00001
|
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
|
NM_138775.3(ALKBH8):c.844A>T (p.Met282Leu)
|
rs763543231
|
0.00001
|
|
NM_000083.3(CLCN1):c.1051T>G (p.Phe351Val)
|
rs2116853000
|
|
|
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu)
|
rs1574813350
|
|
|
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu)
|
rs1574698507
|
|
|
NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)
|
|
|
|
NM_000492.3(CFTR):c.(1392+1_1393-1)_(1584+1_1585-1)del
|
|
|
|
NM_000492.4(CFTR):c.456G>A (p.Met152Ile)
|
rs1403470018
|
|
|
NM_000506.5(F2):c.1088G>A (p.Arg363His)
|
|
|
|
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys)
|
rs374292194
|
|
|
NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)
|
|
|
|
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)
|
rs1564634581
|
|
|
NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln)
|
rs2052560214
|
|
|
NM_001271838.2(RSRC1):c.332del (p.Arg111fs)
|
|
|
|
NM_001292063.2(OTOG):c.996G>T (p.Gln332His)
|
rs1294149176
|
|
|
NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs)
|
rs1577396376
|
|
|
NM_002226.5(JAG2):c.1219_1225del (p.Phe407fs)
|
rs2140979845
|
|
|
NM_002226.5(JAG2):c.841G>T (p.Gly281Cys)
|
rs1377648342
|
|
|
NM_002894.3(RBBP8):c.428+6T>C
|
|
|
|
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser)
|
rs1064797090
|
|
|
NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser)
|
rs137853969
|
|
|
NM_005529.7(HSPG2):c.11563-16G>A
|
|
|
|
NM_006014.5(LAGE3):c.189-2A>G
|
|
|
|
NM_006618.5(KDM5B):c.453_454del (p.Trp152fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2305-1G>A
|
rs863225215
|
|
|
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
|
|
|
|
NM_016239.4(MYO15A):c.343del (p.Arg115fs)
|
|
|
|
NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter)
|
|
|
|
NM_016239.4(MYO15A):c.8730C>A (p.Cys2910Ter)
|
rs776201118
|
|
|
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter)
|
rs1567658710
|
|
|
NM_018075.5(ANO10):c.101G>A (p.Trp34Ter)
|
|
|
|
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs)
|
rs758549961
|
|
|
NM_018249.6(CDK5RAP2):c.4670_4671del (p.Leu1557fs)
|
rs1554730137
|
|
|
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)
|
|
|
|
NM_018255.4(ELP2):c.2237del (p.Cys746fs)
|
|
|
|
NM_020347.4(LZTFL1):c.253C>T (p.Arg85Ter)
|
|
|
|
NM_022124.6(CDH23):c.2132_2136del (p.Tyr711fs)
|
rs1554856042
|
|
|
NM_022124.6(CDH23):c.2864G>T (p.Arg955Leu)
|
|
|
|
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly)
|
rs2132740263
|
|
|
NM_022124.6(CDH23):c.3929C>T (p.Ala1310Val)
|
rs483353051
|
|
|
NM_024649.5(BBS1):c.1473G>A (p.Val491=)
|
rs1856699471
|
|
|
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs)
|
rs1555208870
|
|
|
NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser)
|
rs1583334125
|
|
|
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter)
|
rs1581910796
|
|
|
NM_138694.4(PKHD1):c.5425T>G (p.Cys1809Gly)
|
rs1800745753
|
|
|
NM_138775.3(ALKBH8):c.1442G>A (p.Arg481His)
|
rs532327456
|
|
|
NM_144498.4(OSBPL2):c.572A>G (p.Asn191Ser)
|
rs1385022544
|
|
|
NM_153700.2(STRC):c.1576C>T (p.Arg526Cys)
|
rs1555447608
|
|
|
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer)
|
rs1366021609
|
|
|
NM_170682.4(P2RX2):c.804_806del (p.Trp268_Asp269delinsCys)
|
|
|
|
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter)
|
rs1554226673
|
|
|
NM_206933.4(USH2A):c.1316T>C (p.Leu439Pro)
|
rs1558038097
|
|
|
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)
|
rs1195403033
|
|
|
NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter)
|
rs763831329
|
|