NM_001199107.2(TBC1D24):c.1008del (p.His336fs)
|
rs398122967
|
0.00005
|
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter)
|
rs745800110
|
0.00005
|
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter)
|
rs201257588
|
0.00005
|
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)
|
rs398122965
|
0.00003
|
NM_016356.5(DCDC2):c.349-2A>G
|
rs760040426
|
0.00003
|
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys)
|
rs1057519629
|
0.00002
|
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)
|
rs564477999
|
0.00002
|
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)
|
rs267607105
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
|
rs747538224
|
0.00002
|
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)
|
rs104894415
|
0.00001
|
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys)
|
rs398122966
|
0.00001
|
NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs)
|
rs2065786997
|
0.00001
|
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)
|
rs483352866
|
0.00001
|
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)
|
rs748302886
|
0.00001
|
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)
|
rs756181906
|
0.00001
|
NM_001199107.2(TBC1D24):c.706G>A (p.Gly236Ser)
|
rs1183009408
|
0.00001
|
NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His)
|
rs199744635
|
0.00001
|
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter)
|
rs2099895754
|
0.00001
|
NM_005219.5(DIAPH1):c.3022C>T (p.Arg1008Ter)
|
rs1461242879
|
0.00001
|
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter)
|
rs1050411259
|
0.00001
|
NC_000005.10:g.(?_141516831)_(141618934_?)del
|
|
|
NC_000013.10:g.(?_20797176)_21105944del
|
|
|
NC_000016.10:g.(?_2496129)_(2500978_?)del
|
|
|
NC_000016.9:g.(?_2546150)_(2550959_?)del
|
|
|
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)
|
rs28937872
|
|
NM_001199107.2(TBC1D24):c.1078del (p.Arg360fs)
|
|
|
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter)
|
rs1567413218
|
|
NM_001199107.2(TBC1D24):c.1141dup (p.Arg381fs)
|
rs1205407936
|
|
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter)
|
rs2065771024
|
|
NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro)
|
rs770363653
|
|
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)
|
rs773916549
|
|
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His)
|
rs760474458
|
|
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)
|
rs1057524191
|
|
NM_001199107.2(TBC1D24):c.1306C>T (p.Gln436Ter)
|
|
|
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter)
|
rs1567411053
|
|
NM_001199107.2(TBC1D24):c.132G>A (p.Trp44Ter)
|
|
|
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs)
|
rs1292551263
|
|
NM_001199107.2(TBC1D24):c.1384G>T (p.Glu462Ter)
|
|
|
NM_001199107.2(TBC1D24):c.1397del (p.Pro466fs)
|
rs2141877166
|
|
NM_001199107.2(TBC1D24):c.1402_1409dup (p.Ser472fs)
|
|
|
NM_001199107.2(TBC1D24):c.1488del (p.Met497fs)
|
|
|
NM_001199107.2(TBC1D24):c.1505dup (p.Ser503fs)
|
|
|
NM_001199107.2(TBC1D24):c.1540C>T (p.Gln514Ter)
|
rs746057710
|
|
NM_001199107.2(TBC1D24):c.1574del (p.Gly525fs)
|
|
|
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp)
|
rs1060502501
|
|
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer)
|
rs1555501140
|
|
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1])
|
rs761918906
|
|
NM_001199107.2(TBC1D24):c.270_286del (p.Pro91fs)
|
|
|
NM_001199107.2(TBC1D24):c.309dup (p.Tyr104fs)
|
|
|
NM_001199107.2(TBC1D24):c.337dup (p.Ala113fs)
|
|
|
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His)
|
rs267607103
|
|
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter)
|
rs763626059
|
|
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter)
|
rs397514714
|
|
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs)
|
rs796053403
|
|
NM_001199107.2(TBC1D24):c.540C>A (p.Cys180Ter)
|
|
|
NM_001199107.2(TBC1D24):c.56del (p.Ile19fs)
|
rs2141870681
|
|
NM_001199107.2(TBC1D24):c.636G>A (p.Trp212Ter)
|
rs2141872114
|
|
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)
|
rs2141872119
|
|
NM_001199107.2(TBC1D24):c.668_669delinsAA (p.Cys223Ter)
|
|
|
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)
|
rs397514713
|
|
NM_001199107.2(TBC1D24):c.715del (p.Val239fs)
|
rs2141872348
|
|
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs)
|
rs766769998
|
|
NM_001199107.2(TBC1D24):c.806del (p.Ile269fs)
|
rs2141872499
|
|
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)
|
rs1555501320
|
|
NM_001199107.2(TBC1D24):c.979A>T (p.Lys327Ter)
|
rs2065755770
|
|
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
|
|
|
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)
|
rs281875328
|
|
NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile)
|
rs28999112
|
|
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser)
|
rs1598551290
|
|
NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala)
|
rs104894545
|
|
NM_005219.5(DIAPH1):c.1016del (p.Met339fs)
|
rs2154596448
|
|
NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter)
|
|
|
NM_005219.5(DIAPH1):c.108dup (p.Lys37Ter)
|
rs2154597562
|
|
NM_005219.5(DIAPH1):c.1483C>T (p.Arg495Ter)
|
|
|
NM_005219.5(DIAPH1):c.2100dup (p.Pro701fs)
|
rs2154596284
|
|
NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs)
|
rs771360300
|
|
NM_005219.5(DIAPH1):c.2350_2351dup (p.Trp784fs)
|
|
|
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs)
|
rs2099888710
|
|
NM_005219.5(DIAPH1):c.3166C>T (p.Gln1056Ter)
|
rs1331356644
|
|
NM_005219.5(DIAPH1):c.3211_3212insAT (p.Arg1071fs)
|
|
|
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)
|
rs1235751512
|
|
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)
|
rs876657776
|
|
NM_005219.5(DIAPH1):c.3661+1G>T
|
rs1476157529
|
|
NM_005219.5(DIAPH1):c.626dup (p.Tyr209Ter)
|
|
|
NM_005219.5(DIAPH1):c.684+1G>A
|
|
|
NM_005219.5(DIAPH1):c.839del (p.Leu280fs)
|
|
|
NM_005219.5(DIAPH1):c.89del (p.Gly30fs)
|
|
|
NM_005219.5(DIAPH1):c.910dup (p.Ser304fs)
|
rs2154596461
|
|
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp)
|
rs80356459
|
|
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)
|
rs104894478
|
|
NM_016356.5(DCDC2):c.123_124del (p.Ser42fs)
|
rs757704417
|
|
NM_016356.5(DCDC2):c.529dup (p.Ile177fs)
|
rs904944428
|
|
NM_016356.5(DCDC2):c.705-2A>G
|
|
|
NM_016356.5(DCDC2):c.970dup (p.Ala324fs)
|
rs774115675
|
|