NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00019
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)
|
rs397508636
|
0.00006
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu)
|
rs397508467
|
0.00001
|
NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr)
|
rs755968404
|
0.00001
|
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
|
rs121909015
|
0.00001
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NC_000007.13:g.(?_117144294)_(117254777_?)dup
|
|
|
NC_000007.13:g.(?_117170943)_(117171255_?)del
|
|
|
NC_000007.13:g.(?_117170943)_(117243859_?)dup
|
|
|
NC_000007.13:g.(?_117199476)_(117199720_?)del
|
|
|
NC_000007.13:g.(?_117234961)_(117235122_?)del
|
|
|
NC_000007.13:g.(?_117267556)_(117267869_?)del
|
|
|
NC_000007.13:g.(?_117282468)_(117288374_?)del
|
|
|
NC_000007.14:g.(?_117509024)_(117509152_?)dup
|
|
|
NC_000007.14:g.(?_117530889)_(117540356_?)del
|
|
|
NC_000007.14:g.(?_117548631)_(117548835_?)del
|
|
|
NM_000492.4(CFTR):c.1171_1209+6del
|
|
|
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)
|
rs1554382664
|
|
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val)
|
rs121909009
|
|
NM_000492.4(CFTR):c.13C>T (p.Pro5Ser)
|
|
|
NM_000492.4(CFTR):c.14C>G (p.Pro5Arg)
|
|
|
NM_000492.4(CFTR):c.1502C>T (p.Thr501Ile)
|
rs1799421850
|
|
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)
|
rs1800091
|
|
NM_000492.4(CFTR):c.1519A>T (p.Ile507Phe)
|
rs1801178
|
|
NM_000492.4(CFTR):c.1584+1G>T
|
rs397508230
|
|
NM_000492.4(CFTR):c.1733T>C (p.Leu578Pro)
|
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.2658-1G>C
|
rs397508416
|
|
NM_000492.4(CFTR):c.273+3A>C
|
rs74467662
|
|
NM_000492.4(CFTR):c.273G>C (p.Gly91=)
|
rs773739166
|
|
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)
|
rs397508432
|
|
NM_000492.4(CFTR):c.2908+1G>A
|
rs1060503164
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2982_2988+2del
|
rs1554391489
|
|
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro)
|
rs397508490
|
|
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)
|
rs397508522
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3468+1G>T
|
rs1554392798
|
|
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)
|
rs397508573
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.3718-5_3725del
|
rs2116166586
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3964-1_3964delinsTT
|
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp)
|
rs397508700
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)
|
rs397508753
|
|
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
|
NM_000492.4(CFTR):c.578_579+5del
|
rs397508760
|
|
NM_000492.4(CFTR):c.743+2T>C
|
rs1584787119
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
NM_000492.4(CFTR):c.931T>C (p.Phe311Leu)
|
rs2116683801
|
|