|
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
|
rs213950
|
0.56732
|
|
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)
|
rs1042077
|
0.44737
|
|
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)
|
rs1800136
|
0.23407
|
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
|
NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr)
|
rs368328328
|
0.00009
|
|
NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser)
|
rs587777133
|
0.00004
|
|
NM_003846.3(PEX11B):c.766C>T (p.Arg256Ter)
|
rs782188850
|
0.00003
|
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
|
NM_001198800.3(ASCC1):c.626+1G>A
|
rs747595523
|
0.00001
|
|
NM_006063.3(KLHL41):c.1027C>T (p.Gln343Ter)
|
rs779140230
|
0.00001
|
|
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)
|
rs142500730
|
0.00001
|
|
NM_199355.4(ADAMTS18):c.3334C>T (p.Arg1112Ter)
|
rs776870884
|
0.00001
|
|
NM_000232.5:c.74_283del
|
|
|
|
NM_000271.5(NPC1):c.2740T>A (p.Cys914Ser)
|
|
|
|
NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)
|
|
|
|
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
|
|
|
|
NM_000543.5(SMPD1):c.1390G>T (p.Glu464Ter)
|
|
|
|
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)
|
rs780950819
|
|
|
NM_000888.5(ITGB6):c.718G>A (p.Glu240Lys)
|
|
|
|
NM_001001331.4(ATP2B2):c.941-1G>A
|
|
|
|
NM_001017995.3(SH3PXD2B):c.1012+1G>T
|
|
|
|
NM_001080442.3(SLC38A8):c.1214+1G>T
|
|
|
|
NM_001080476.3(GRXCR1):c.457T>G (p.Phe153Val)
|
|
|
|
NM_001165963.4(SCN1A):c.2048C>A (p.Thr683Lys)
|
|
|
|
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs)
|
rs745949846
|
|
|
NM_001384732.1(CPLANE1):c.3094_3095del (p.Val1032fs)
|
|
|
|
NM_001386393.1(PANK2):c.1258G>A (p.Ala420Thr)
|
|
|
|
NM_001478.5(B4GALNT1):c.512C>T (p.Ser171Phe)
|
rs759353736
|
|
|
NM_001813.3(CENPE):c.2748dup (p.Leu917fs)
|
|
|
|
NM_003038.5(SLC1A4):c.2T>C (p.Met1Thr)
|
|
|
|
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter)
|
rs772264564
|
|
|
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)
|
rs755536829
|
|
|
NM_006005.3(WFS1):c.1627C>T (p.Leu543Phe)
|
|
|
|
NM_006383.4(CIB2):c.476_479del (p.Asp159fs)
|
|
|
|
NM_006517.5(SLC16A2):c.1015dup (p.Tyr339fs)
|
|
|
|
NM_006846.4(SPINK5):c.153del (p.Gln52fs)
|
rs1752706120
|
|
|
NM_014798.3(PLEKHM1):c.217_239del (p.Gly73fs)
|
|
|
|
NM_015311.3(OBSL1):c.5556_5557insTC (p.Lys1853fs)
|
|
|
|
NM_016239.4(MYO15A):c.4596+1G>A
|
|
|
|
NM_016589.4(TIMMDC1):c.191_192del (p.Lys64fs)
|
|
|
|
NM_018136.5(ASPM):c.3879_3880del (p.Lys1294fs)
|
|
|
|
NM_018161.5(NADSYN1):c.799-2A>G
|
|
|
|
NM_019842.4(KCNQ5):c.1985A>G (p.Asp662Gly)
|
|
|
|
NM_024312.5(GNPTAB):c.*295T>C
|
|
|
|
NM_024577.4(SH3TC2):c.1691A>G (p.Asp564Gly)
|
|
|
|
NM_025265.4(TSEN2):c.23C>A (p.Ala8Asp)
|
|
|
|
NM_032340.4(UQCC2):c.101G>A (p.Arg34Gln)
|
|
|
|
NM_033087.4(ALG2):c.1193T>C (p.Phe398Ser)
|
|
|
|
NM_080605.4(B3GALT6):c.619G>C (p.Asp207His)
|
rs397514723
|
|
|
NM_138691.3(TMC1):c.64+2T>A
|
|
|
|
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)
|
rs104894474
|
|
|
NM_153252.5(BRWD3):c.2864C>G (p.Ala955Gly)
|
|
|