NM_000492.4(CFTR):c.1408= (p.Val470=)
|
rs213950
|
0.43268
|
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)
|
rs1800130
|
0.07467
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)
|
rs111966833
|
0.00389
|
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)
|
rs121909293
|
0.00386
|
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)
|
rs515726209
|
0.00067
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00012
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_007272.3(CTRC):c.164G>A (p.Trp55Ter)
|
rs121909294
|
0.00004
|
NM_001379610.1(SPINK1):c.27del (p.Ser10fs)
|
rs193922659
|
0.00002
|
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)
|
rs111033568
|
0.00002
|
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys)
|
rs515726208
|
0.00001
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.3963-78_4242+577del
|
|
|
NM_000492.3(CFTR):c.54-5940_273+10250del
|
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_001379610.1(SPINK1):c.150T>G (p.Asp50Glu)
|
rs515726206
|
|
NM_001379610.1(SPINK1):c.160T>C (p.Tyr54His)
|
rs515726207
|
|
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)
|
rs111033566
|
|
NM_007272.3(CTRC):c.180C>A (p.Gly60=)
|
rs497078
|
|
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)
|
rs515726210
|
|
NP_002760.1(PRSS1):p.Cys139Ser
|
|
|