NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_000518.5(HBB):c.93G>T (p.Arg31Ser)
|
rs1135071
|
0.00035
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_006231.4(POLE):c.1A>C (p.Met1Leu)
|
rs878854847
|
0.00019
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
NM_000518.5(HBB):c.389C>T (p.Ala130Val)
|
rs111645889
|
0.00007
|
NM_000552.5(VWF):c.658-3C>A
|
rs377196768
|
0.00007
|
NM_000500.9(CYP21A2):c.1024C>T (p.Arg342Trp)
|
rs72552755
|
0.00005
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)
|
rs193922511
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000517.4(HBA2):c.142G>C (p.Asp48His)
|
rs281864834
|
0.00003
|
NM_000518.4(HBB):c.404T>C (p.Val135Ala)
|
rs33966761
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_000059.4(BRCA2):c.632-3C>G
|
rs568027879
|
0.00001
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
NM_000517.6(HBA2):c.98T>G (p.Met33Arg)
|
rs1468615416
|
0.00001
|
NM_000518.5(HBB):c.341T>A (p.Val114Glu)
|
rs34484056
|
0.00001
|
NM_002439.5(MSH3):c.909G>C (p.Lys303Asn)
|
rs757164724
|
0.00001
|
NM_006231.4(POLE):c.5032C>T (p.Gln1678Ter)
|
rs1301816028
|
0.00001
|
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)
|
rs869312803
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_015450.3(POT1):c.233T>C (p.Ile78Thr)
|
rs947005337
|
0.00001
|
GRCh37/hg19 10q24.2(chr10:100690060-100911811)x1
|
|
|
GRCh37/hg19 13q12.11(chr13:20796981-21104487)x1
|
|
|
GRCh37/hg19 1p35.1(chr1:33490421-33599915)x1
|
|
|
GRCh37/hg19 2q36.3(chr2:228534400-228589902)x1
|
|
|
NM_000038.6(APC):c.6510del (p.Glu2172fs)
|
rs1554087474
|
|
NM_000059.4(BRCA2):c.516G>A (p.Lys172=)
|
rs80359790
|
|
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser)
|
rs56371528
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000277.3(PAH):c.1065+3A>G
|
rs62508689
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4243-7del
|
rs878854021
|
|
NM_000492.4(CFTR):c.598T>A (p.Phe200Ile)
|
rs397508766
|
|
NM_000517.6(HBA2):c.79G>A (p.Ala27Thr)
|
rs41467944
|
|
NM_000518.5(HBB):c.179A>C (p.Lys60Thr)
|
rs35537181
|
|
NM_000518.5(HBB):c.22G>A (p.Glu8Lys)
|
rs34948328
|
|
NM_000518.5(HBB):c.315G>C (p.Arg105Ser)
|
rs33914944
|
|
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)
|
rs397507171
|
|
NM_006231.4(POLE):c.1359+5G>A
|
rs761564635
|
|
NM_006231.4(POLE):c.1A>T (p.Met1Leu)
|
rs878854847
|
|
NM_006231.4(POLE):c.3080_3081del (p.Asp1026_Ser1027insTer)
|
rs752148857
|
|
NM_007294.4(BRCA1):c.132C>T (p.Cys44=)
|
rs876658362
|
|
NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs)
|
rs879255287
|
|
NM_020975.6(RET):c.2752A>G (p.Met918Val)
|
rs377767442
|
|
Single allele
|
|
|