|
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile)
|
rs149001418
|
0.00104
|
|
NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr)
|
rs201268590
|
0.00031
|
|
NM_005422.4(TECTA):c.2725C>T (p.Arg909Cys)
|
rs139132568
|
0.00012
|
|
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp)
|
rs200635355
|
0.00008
|
|
NM_004100.5(EYA4):c.1223G>A (p.Arg408His)
|
rs760787542
|
0.00004
|
|
NM_024915.4(GRHL2):c.1081G>A (p.Val361Met)
|
rs770962467
|
0.00003
|
|
NM_000260.4(MYO7A):c.310G>A (p.Ala104Thr)
|
rs374967010
|
0.00001
|
|
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys)
|
rs746613906
|
0.00001
|
|
NM_000260.4(MYO7A):c.2699G>T (p.Arg900Leu)
|
|
|
|
NM_000260.4(MYO7A):c.3315C>A (p.Ser1105Arg)
|
|
|
|
NM_000260.4(MYO7A):c.3551C>G (p.Ser1184Cys)
|
|
|
|
NM_001046.3(SLC12A2):c.3364A>G (p.Ile1122Val)
|
|
|
|
NM_001142966.3(GREB1L):c.1708G>A (p.Val570Met)
|
|
|
|
NM_001145026.2(PTPRQ):c.3974A>T (p.Asn1325Ile)
|
|
|
|
NM_001145319.2(PLS1):c.544A>G (p.Ile182Val)
|
|
|
|
NM_001145809.2(MYH14):c.2933T>C (p.Leu978Pro)
|
|
|
|
NM_001376256.1(CRYM):c.29C>G (p.Ala10Gly)
|
|
|
|
NM_001614.5(ACTG1):c.520G>A (p.Ala174Thr)
|
rs587780274
|
|
|
NM_001614.5(ACTG1):c.791C>T (p.Pro264Leu)
|
rs104894546
|
|
|
NM_002160.4(TNC):c.2434A>G (p.Lys812Glu)
|
|
|
|
NM_002473.6(MYH9):c.3277G>A (p.Glu1093Lys)
|
rs2146338775
|
|
|
NM_002700.3(POU4F3):c.745C>A (p.Gln249Lys)
|
rs1465371108
|
|
|
NM_004004.6(GJB2):c.388G>C (p.Gly130Arg)
|
|
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
|
NM_004086.3(COCH):c.7G>C (p.Ala3Pro)
|
|
|
|
NM_004100.5(EYA4):c.701C>T (p.Thr234Ile)
|
|
|
|
NM_004700.4(KCNQ4):c.227C>G (p.Ala76Gly)
|
|
|
|
NM_004700.4(KCNQ4):c.28G>A (p.Gly10Ser)
|
|
|
|
NM_004700.4(KCNQ4):c.331A>G (p.Ser111Gly)
|
|
|
|
NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg)
|
|
|
|
NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val)
|
rs80358275
|
|
|
NM_004700.4(KCNQ4):c.826T>C (p.Trp276Arg)
|
rs2148319465
|
|
|
NM_004999.4(MYO6):c.2819G>A (p.Arg940His)
|
|
|
|
NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter)
|
rs876657653
|
|
|
NM_004999.4(MYO6):c.406C>T (p.Arg136Ter)
|
|
|
|
NM_005219.5(DIAPH1):c.2041T>G (p.Leu681Val)
|
|
|
|
NM_005219.5(DIAPH1):c.3662-1931C>G
|
|
|
|
NM_005422.4(TECTA):c.126T>A (p.Asp42Glu)
|
|
|
|
NM_005422.4(TECTA):c.1364A>G (p.Asn455Ser)
|
|
|
|
NM_005422.4(TECTA):c.1796G>C (p.Ser599Thr)
|
rs762612501
|
|
|
NM_005422.4(TECTA):c.4613A>G (p.Asn1538Ser)
|
|
|
|
NM_005422.4(TECTA):c.5178G>T (p.Lys1726Asn)
|
|
|
|
NM_005422.4(TECTA):c.5539T>C (p.Ser1847Pro)
|
rs1947057220
|
|
|
NM_006005.3(WFS1):c.1419_1427del (p.Met474_Leu476del)
|
|
|
|
NM_006005.3(WFS1):c.2503A>T (p.Ser835Cys)
|
|
|
|
NM_080680.3(COL11A2):c.2114A>G (p.Gln705Arg)
|
|
|
|
NM_080680.3(COL11A2):c.4991T>C (p.Leu1664Pro)
|
|
|
|
NM_177398.4(LMX1A):c.317T>G (p.Phe106Cys)
|
|
|
|
NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu)
|
|
|
|
NM_178335.3(CCDC50):c.372G>C (p.Glu124Asp)
|
|
|