NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)
|
rs121909293
|
0.00374
|
NM_007272.3(CTRC):c.640-12G>A
|
rs183053579
|
0.00194
|
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)
|
rs515726209
|
0.00067
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00038
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00037
|
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala)
|
rs189270875
|
0.00035
|
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu)
|
rs142560329
|
0.00020
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)
|
rs202058123
|
0.00003
|
NM_001868.4(CPA1):c.686C>T (p.Thr229Met)
|
rs781815975
|
0.00002
|
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg)
|
rs769482036
|
0.00002
|
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)
|
rs397508147
|
0.00001
|
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu)
|
rs369163833
|
0.00001
|
NM_001868.4(CPA1):c.829G>A (p.Gly277Ser)
|
rs782790983
|
0.00001
|
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser)
|
rs397507440
|
0.00001
|
NM_007272.3(CTRC):c.494-1G>C
|
rs766917452
|
0.00001
|
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter)
|
rs747905422
|
0.00001
|
NC_000007.13:g.(?_142457132)_(142460891_?)dup
|
|
|
NC_000007.13:g.(?_142457319)_(142460927_?)dup
|
|
|
NC_000007.13:g.(?_142459605)_(142460891_?)dup
|
|
|
NC_000007.13:g.(?_142459615)_(142460871_?)dup
|
|
|
NC_000007.13:g.(?_142459615)_(142460881_?)dup
|
|
|
NC_000007.14:g.(?_142749147)_(142753020_?)dup
|
|
|
NC_000007.14:g.(?_142749475)_(142753030_?)dup
|
|
|
NM_000492.4(CFTR):c.1066_1071del (p.Trp356_Ala357del)
|
rs2116684480
|
|
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn)
|
rs397508198
|
|
NM_000492.4(CFTR):c.2908+1G>A
|
rs1060503164
|
|
NM_000492.4(CFTR):c.3907A>T (p.Asn1303Tyr)
|
rs121909042
|
|
NM_000492.4(CFTR):c.3964-1_3964delinsTT
|
rs2485181593
|
|
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)
|
rs113857788
|
|
NM_001379610.1(SPINK1):c.162del (p.Asn56fs)
|
rs2480198981
|
|
NM_001379610.1(SPINK1):c.165del (p.Asn56fs)
|
rs1756441909
|
|
NM_001379610.1(SPINK1):c.55+1G>A
|
rs1561606446
|
|
NM_001379610.1(SPINK1):c.55+1G>T
|
rs1561606446
|
|
NM_001379610.1(SPINK1):c.93_101del (p.Lys31_Tyr33del)
|
rs767903021
|
|
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys)
|
rs387906698
|
|
NM_002769.5(PRSS1):c.347G>C (p.Arg116Pro)
|
rs199769221
|
|
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile)
|
rs193922655
|
|
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg)
|
rs193922656
|
|
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg)
|
rs111033567
|
|
NM_007272.3(CTRC):c.129G>A (p.Trp43Ter)
|
rs2526289681
|
|
NM_007272.3(CTRC):c.132G>A (p.Gln44=)
|
rs901779500
|
|
NM_007272.3(CTRC):c.133-1G>T
|
rs1557508272
|
|
NM_007272.3(CTRC):c.231-2A>G
|
rs1570783505
|
|
NM_007272.3(CTRC):c.2T>C (p.Met1Thr)
|
rs1455019932
|
|
NM_007272.3(CTRC):c.429_430delinsTGGC (p.Glu144fs)
|
rs1570784592
|
|
NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr)
|
rs2526297384
|
|
NM_007272.3(CTRC):c.494-1G>A
|
rs766917452
|
|
NM_007272.3(CTRC):c.494-2A>G
|
rs1708187577
|
|
NM_007272.3(CTRC):c.520C>T (p.Gln174Ter)
|
rs1290349619
|
|
NM_007272.3(CTRC):c.627dup (p.Ser210fs)
|
rs1708190814
|
|
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)
|
rs202058123
|
|
NM_007272.3(CTRC):c.716C>G (p.Ser239Cys)
|
|
|