NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)
|
rs779248881
|
0.00037
|
NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala)
|
rs141905538
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)
|
rs56381858
|
0.00017
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_015087.5(SPART):c.364_365del (p.Met122fs)
|
rs775736341
|
0.00009
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg)
|
rs780085174
|
0.00004
|
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)
|
rs74315459
|
0.00003
|
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)
|
rs376054085
|
0.00003
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe)
|
rs754043007
|
0.00001
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs)
|
rs781171287
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)
|
rs104886237
|
0.00001
|
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)
|
rs748983904
|
0.00001
|
NC_012920.1:m.9185T>C
|
rs199476138
|
|
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)
|
rs2091707324
|
|
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)
|
rs797045336
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)
|
rs775836288
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe)
|
rs1600982189
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro)
|
rs2067137547
|
|
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)
|
rs781843758
|
|
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu)
|
rs61748391
|
|
NM_001114753.3(ENG):c.8G>A (p.Arg3His)
|
rs1588604597
|
|
NM_001321075.3(DLG4):c.1478+4_1478+19del
|
rs2142830394
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)
|
rs397509412
|
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)
|
rs1563929039
|
|
NM_003718.5(CDK13):c.484dup (p.Ala162fs)
|
rs1405252481
|
|
NM_003738.5(PTCH2):c.1296_1305delinsCACCA (p.Val433fs)
|
rs1573648653
|
|
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys)
|
rs1131691283
|
|
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)
|
rs80357064
|
|
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del)
|
rs1553154062
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_018426.3(TMEM63B):c.130G>A (p.Val44Met)
|
|
|
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)
|
rs80358380
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter)
|
rs2106802170
|
|
Single allele
|
|
|
UGT1A1*28
|
rs3064744
|
|