NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)
|
rs104895192
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
0.00016
|
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)
|
rs200557537
|
0.00014
|
NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr)
|
rs374767079
|
0.00013
|
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile)
|
rs199473341
|
0.00011
|
NM_000435.3(NOTCH3):c.224G>A (p.Arg75Gln)
|
rs145069047
|
0.00010
|
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr)
|
rs199473294
|
0.00009
|
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)
|
rs756975501
|
0.00005
|
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)
|
rs371491165
|
0.00005
|
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu)
|
rs199473191
|
0.00003
|
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser)
|
rs200034939
|
0.00003
|
NM_000371.4(TTR):c.70-9T>C
|
rs764059061
|
0.00003
|
NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu)
|
rs748155731
|
0.00003
|
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln)
|
rs201994938
|
0.00003
|
NM_015346.4(ZFYVE26):c.6419G>A (p.Arg2140Gln)
|
rs373855798
|
0.00003
|
NM_000243.3(MEFV):c.239G>A (p.Arg80His)
|
rs201075710
|
0.00002
|
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg)
|
rs780405533
|
0.00002
|
NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)
|
rs765921870
|
0.00002
|
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu)
|
rs144716190
|
0.00001
|
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)
|
rs190705322
|
0.00001
|
NM_000243.3(MEFV):c.1559A>T (p.Glu520Val)
|
rs769888172
|
0.00001
|
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn)
|
rs779687673
|
0.00001
|
NM_000335.5(SCN5A):c.5995G>T (p.Asp1999Tyr)
|
rs764195092
|
0.00001
|
NM_000335.5(SCN5A):c.84G>A (p.Met28Ile)
|
rs1284557438
|
0.00001
|
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His)
|
rs142031490
|
0.00001
|
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg)
|
rs148166997
|
0.00001
|
NM_000492.4(CFTR):c.413T>C (p.Leu138Pro)
|
rs1800078
|
0.00001
|
NM_000044.6(AR):c.882G>T (p.Leu294=)
|
|
|
NM_000243.3(MEFV):c.1129C>G (p.Arg377Gly)
|
rs896909303
|
|
NM_000243.3(MEFV):c.1252G>A (p.Glu418Lys)
|
rs1958996963
|
|
NM_000243.3(MEFV):c.1627G>C (p.Val543Leu)
|
rs1958911016
|
|
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)
|
rs387907570
|
|
NM_000243.3(MEFV):c.217G>A (p.Val73Ile)
|
rs2141679452
|
|
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu)
|
rs766670643
|
|
NM_000243.3(MEFV):c.799A>T (p.Thr267Ser)
|
|
|
NM_000243.3(MEFV):c.909C>A (p.Thr303=)
|
rs1429025477
|
|
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)
|
rs1907131144
|
|
NM_000335.5(SCN5A):c.1047C>G (p.Asp349Glu)
|
|
|
NM_000335.5(SCN5A):c.1913G>A (p.Gly638Asp)
|
rs199473578
|
|
NM_000335.5(SCN5A):c.2259C>A (p.Asn753Lys)
|
rs878911306
|
|
NM_000335.5(SCN5A):c.2318C>G (p.Pro773Arg)
|
rs2061687716
|
|
NM_000335.5(SCN5A):c.3387+8A>C
|
rs2125867452
|
|
NM_000335.5(SCN5A):c.3388A>C (p.Thr1130Pro)
|
rs371469522
|
|
NM_000335.5(SCN5A):c.3747C>G (p.Phe1249Leu)
|
rs756102773
|
|
NM_000335.5(SCN5A):c.3913C>A (p.Arg1305Ser)
|
rs1403211358
|
|
NM_000335.5(SCN5A):c.392+3A>G
|
rs2062503289
|
|
NM_000335.5(SCN5A):c.4810+4G>A
|
rs1011460663
|
|
NM_000335.5(SCN5A):c.4810+5G>A
|
rs2125830430
|
|
NM_000335.5(SCN5A):c.5287G>T (p.Val1763Phe)
|
rs199473309
|
|
NM_000335.5(SCN5A):c.935-3C>G
|
rs766127222
|
|
NM_000371.4(TTR):c.185A>C (p.Glu62Ala)
|
rs11541796
|
|
NM_000371.4(TTR):c.232C>G (p.Leu78Val)
|
|
|
NM_000371.4(TTR):c.239C>G (p.Thr80Ser)
|
rs1254341785
|
|
NM_000371.4(TTR):c.259G>C (p.Gly87Arg)
|
rs11541799
|
|
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1583A>C (p.Glu528Ala)
|
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
NM_000492.4(CFTR):c.551T>G (p.Leu184Arg)
|
rs1798913255
|
|
NM_000492.4(CFTR):c.878T>C (p.Leu293Pro)
|
rs2116683530
|
|
NM_000517.6(HBA2):c.358C>G (p.Pro120Ala)
|
rs1262943621
|
|
NM_001065.4(TNFRSF1A):c.796C>A (p.Pro266Thr)
|
|
|
NM_001163435.3(TBCK):c.783G>T (p.Arg261Ser)
|
rs1476004978
|
|
NM_004006.3(DMD):c.58A>C (p.Thr20Pro)
|
|
|
NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del)
|
rs746710766
|
|