NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)
|
rs138924661
|
0.00016
|
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00010
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)
|
rs121908749
|
0.00001
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)
|
rs121909043
|
0.00001
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)
|
rs199474730
|
0.00001
|
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
NM_000088.4(COL1A1):c.579del (p.Gly194fs)
|
rs72667023
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.1183_1185+2del
|
rs1555611039
|
|
NM_001042492.3(NF1):c.1185+1G>T
|
rs864622161
|
|
NM_001042492.3(NF1):c.1260+2T>C
|
rs1555611110
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.2251+1G>C
|
rs1555613843
|
|
NM_001042492.3(NF1):c.2252-1G>C
|
rs587781577
|
|
NM_001042492.3(NF1):c.2252-2A>G
|
rs1131691105
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs)
|
rs1555614866
|
|
NM_001042492.3(NF1):c.3497-1G>A
|
rs1555615004
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)
|
rs1597829906
|
|
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)
|
rs1555533555
|
|
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter)
|
rs1555533569
|
|
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)
|
rs786203570
|
|
NM_001042492.3(NF1):c.5610-2A>T
|
rs1135402876
|
|
NM_001042492.3(NF1):c.587-2A>G
|
rs1057518360
|
|
NM_001042492.3(NF1):c.655-2A>C
|
rs1555608734
|
|
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)
|
rs1555608740
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.888+1G>C
|
rs1135402799
|
|
NM_001042492.3(NF1):c.889-1G>A
|
rs587781517
|
|