NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)
|
rs141458677
|
0.00019
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)
|
rs121913026
|
0.00009
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)
|
rs121918374
|
0.00007
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_018131.5(CEP55):c.993+3A>C
|
rs572584581
|
0.00004
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)
|
rs1317230624
|
0.00001
|
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)
|
rs121918732
|
0.00001
|
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=)
|
rs762081862
|
0.00001
|
NC_000016.9:g.78179358_78219143delins[78185355_78199419inv]
|
|
|
NM_000231.3(SGCG):c.579-5729_702+1720del
|
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu)
|
rs201660407
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_001378454.1(ALMS1):c.11784G>A (p.Trp3928Ter)
|
rs1318520999
|
|
NM_001378454.1(ALMS1):c.6408_6409insCCTA (p.Ala2137fs)
|
rs1553404233
|
|
NM_001378454.1(ALMS1):c.7087del (p.Leu2363fs)
|
rs1553404395
|
|
NM_001378454.1(ALMS1):c.7674+1G>A
|
rs1417025395
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs)
|
rs1555251822
|
|
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg)
|
rs1567567249
|
|
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg)
|
rs1859949436
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup)
|
rs773682747
|
|
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys)
|
rs1580609185
|
|
NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs)
|
rs727503442
|
|
NM_207346.3(TSEN54):c.953del (p.Pro318fs)
|
|
|
Single allele
|
|
|