NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)
|
rs397508542
|
0.00004
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)
|
rs397508500
|
0.00001
|
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)
|
rs397508533
|
0.00001
|
NM_000492.4(CFTR):c.2989-3C>G
|
rs397508471
|
|
NM_000492.4(CFTR):c.2998_3019del (p.Ile1000fs)
|
rs397508474
|
|
NM_000492.4(CFTR):c.2998del (p.Ile1000fs)
|
rs397508475
|
|
NM_000492.4(CFTR):c.3007G>T (p.Gly1003Ter)
|
rs397508478
|
|
NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu)
|
rs55803548
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)
|
rs397508480
|
|
NM_000492.4(CFTR):c.3021del (p.Val1008fs)
|
rs397508481
|
|
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp)
|
rs397508483
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)
|
rs397508491
|
|
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del)
|
rs1554392027
|
|
NM_000492.4(CFTR):c.3084G>T (p.Met1028Ile)
|
rs200553511
|
|
NM_000492.4(CFTR):c.3139+1G>T
|
rs397508503
|
|
NM_000492.4(CFTR):c.3139G>C (p.Gly1047Arg)
|
rs397508504
|
|
NM_000492.4(CFTR):c.3140-4A>G
|
rs397508507
|
|
NM_000492.4(CFTR):c.3176T>G (p.Leu1059Ter)
|
rs397508512
|
|
NM_000492.4(CFTR):c.3179A>C (p.Lys1060Thr)
|
rs397508513
|
|
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter)
|
rs397508514
|
|
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)
|
rs121909036
|
|
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser)
|
rs78194216
|
|
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu)
|
rs121909019
|
|
NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro)
|
rs78769542
|
|
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs)
|
rs397508518
|
|
NM_000492.4(CFTR):c.3241G>C (p.Ala1081Pro)
|
rs397508521
|
|
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)
|
rs397508523
|
|
NM_000492.4(CFTR):c.3263dup (p.Asn1088fs)
|
rs397508524
|
|
NM_000492.4(CFTR):c.3264del (p.Trp1089fs)
|
rs397508525
|
|
NM_000492.4(CFTR):c.3278T>C (p.Leu1093Pro)
|
rs397508527
|
|
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA
|
rs1554392248
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.3314T>G (p.Met1105Arg)
|
rs397508539
|
|
NM_000492.4(CFTR):c.3315del (p.Met1105fs)
|
rs397508540
|
|
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3367+6A>G
|
rs397508545
|
|
NM_000492.4(CFTR):c.3367G>C (p.Gly1123Arg)
|
rs397508546
|
|