NM_001321739.2(M1AP):c.676dup (p.Trp226fs)
|
rs144217347
|
0.00238
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter)
|
rs141801212
|
0.00112
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_000044.6(AR):c.1792A>G (p.Ser598Gly)
|
rs142280455
|
0.00038
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_000044.6(AR):c.1301C>T (p.Ser434Phe)
|
rs748457992
|
0.00011
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_004959.5(NR5A1):c.1052C>T (p.Ala351Val)
|
rs759071081
|
0.00004
|
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)
|
rs121908805
|
0.00003
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
NM_000492.4(CFTR):c.2917C>T (p.Leu973Phe)
|
rs747139295
|
0.00001
|
NM_001136046.3(ZMYND15):c.931C>T (p.Arg311Ter)
|
rs148161063
|
0.00001
|
NM_000044.6(AR):c.2059T>C (p.Cys687Arg)
|
|
|
NM_000044.6(AR):c.2270A>G (p.Asn757Ser)
|
|
|
NM_000044.6(AR):c.2486A>T (p.Asp829Val)
|
rs2147537806
|
|
NM_000044.6(AR):c.2567G>A (p.Arg856His)
|
rs9332971
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.54-5940_273+10250del
|
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)
|
rs121909016
|
|
NM_001079858.3(ADGRG2):c.2033_2035delinsACTCGTGGATTGCTCTG (p.Val678fs)
|
rs2146526778
|
|
NM_001136505.2(TERB1):c.1703C>G (p.Ser568Ter)
|
rs2145104416
|
|
NM_001145400.2(ADAD2):c.515_516insA (p.Leu173fs)
|
rs2151327314
|
|
NM_001350162.2(TEX15):c.8197_8198del (p.Glu2733fs)
|
rs1351772557
|
|
NM_001378211.1(SHOC1):c.1277_1278del (p.Glu426fs)
|
rs2131485407
|
|
NM_001384355.1(RAD21L1):c.85A>T (p.Lys29Ter)
|
rs1161340148
|
|
NM_003602.5(FKBP6):c.508_529dup (p.Phe177fs)
|
|
|
NM_003602.5(FKBP6):c.589-2A>G
|
|
|
NM_014258.4(SYCP2):c.2022_2025del (p.Lys674fs)
|
rs1600877766
|
|
NM_014258.4(SYCP2):c.2793_2797del (p.Lys932fs)
|
rs1600840291
|
|
NM_014258.4(SYCP2):c.3067_3071del (p.Lys1023fs)
|
rs753462162
|
|
NM_031272.5(TEX14):c.2944C>T (p.Gln982Ter)
|
rs2144412389
|
|
NM_031272.5(TEX14):c.3168C>A (p.Tyr1056Ter)
|
rs56315337
|
|
NM_031272.5(TEX14):c.3482_3486del (p.Pro1161fs)
|
rs2144367372
|
|
NM_031272.5(TEX14):c.3549C>A (p.Cys1183Ter)
|
rs2144363211
|
|
NM_031272.5(TEX14):c.3625_3628del (p.Ser1209fs)
|
rs553754986
|
|
NM_130806.5(RXFP2):c.1406del (p.Phe469fs)
|
|
|
NM_172166.4(MSH5):c.1857del (p.Ala620fs)
|
rs1562249204
|
|
NM_172166.4(MSH5):c.75dup (p.Ser26fs)
|
rs961633772
|
|