NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)
|
rs201294520
|
0.00006
|
NM_000216.4(ANOS1):c.255+5G>A
|
rs773138384
|
0.00004
|
NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=)
|
rs879255502
|
0.00003
|
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu)
|
rs139149160
|
0.00003
|
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)
|
rs773398782
|
0.00002
|
NM_005633.4(SOS1):c.979A>G (p.Ile327Val)
|
rs758546951
|
0.00002
|
NM_014009.4(FOXP3):c.398C>T (p.Pro133Leu)
|
rs782511378
|
0.00002
|
NM_000340.2(SLC2A2):c.963+1G>A
|
rs371977235
|
0.00001
|
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter)
|
rs1060499834
|
0.00001
|
NM_014251.3(SLC25A13):c.1958A>G (p.Lys653Arg)
|
rs879255501
|
0.00001
|
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp)
|
rs772595501
|
0.00001
|
NM_015909.4(NBAS):c.586C>T (p.Gln196Ter)
|
rs1131692171
|
0.00001
|
NC_000003.12:g.136246220_136254271del
|
|
|
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)
|
rs879255505
|
|
NM_000033.4(ABCD1):c.1743CGT[1] (p.Val583del)
|
rs1557054859
|
|
NM_000044.6(AR):c.1685T>C (p.Ile562Thr)
|
rs886041050
|
|
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)
|
rs1555571916
|
|
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)
|
rs72659319
|
|
NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr)
|
rs1555791556
|
|
NM_000095.3(COMP):c.1489+2T>A
|
rs1131692038
|
|
NM_000159.4(GCDH):c.731del (p.Gly244fs)
|
rs878853244
|
|
NM_000162.5(GCK):c.112C>T (p.Gln38Ter)
|
rs878853246
|
|
NM_000216.4(ANOS1):c.145T>C (p.Cys49Arg)
|
rs1057520209
|
|
NM_000216.4(ANOS1):c.1904A>C (p.Gln635Pro)
|
rs1057519418
|
|
NM_000216.4(ANOS1):c.33_34insA (p.Leu12fs)
|
rs1057520210
|
|
NM_000339.2(SLC12A3):c.[1849C>T];[1919A>G]
|
|
|
NM_000340.2(SLC2A2):c.1331G>A (p.Trp444Ter)
|
rs1553784995
|
|
NM_000348.3(SRD5A2):c.[548-9T>G];[680G>A]
|
|
|
NM_000348.3(SRD5A2):c.[680G>A];[694C>G]
|
|
|
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys)
|
rs1553323036
|
|
NM_000455.5(STK11):c.541A>G (p.Asn181Asp)
|
rs886037926
|
|
NM_000455.5(STK11):c.542A>G (p.Asn181Ser)
|
rs886037859
|
|
NM_000455.5(STK11):c.709G>T (p.Asp237Tyr)
|
rs878853247
|
|
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro)
|
rs1060499835
|
|
NM_000500.7(CYP21A2):c.[377C>G];[518T>A]
|
|
|
NM_000500.7(CYP21A2):c.[518T>A];[830_841delTCCTGGAAGGGC]
|
|
|
NM_000525.4(KCNJ11):c.967dup (p.Asp323fs)
|
rs1554901596
|
|
NM_000531.6(OTC):c.254T>C (p.Ile85Thr)
|
rs878853245
|
|
NM_000531.6(OTC):c.72_77+18del
|
rs863225061
|
|
NM_000540.3(RYR1):c.9356G>A (p.Arg3119His)
|
rs193922833
|
|
NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu)
|
rs1060499732
|
|
NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys)
|
rs886041121
|
|
NM_000785.3(CYP27B1):c.[1319_1325dupCCCACCC];[1358G>A]
|
|
|
NM_001015877.2(PHF6):c.113del (p.Lys38fs)
|
rs1057519064
|
|
NM_001042492.3(NF1):c.3197+3A>T
|
rs1359512152
|
|
NM_001197104.2(KMT2A):c.602_603insT (p.Lys201fs)
|
rs1555035550
|
|
NM_001354712.2(THRB):c.1326_1327delinsAT (p.Met442_Lys443delinsIleTer)
|
rs1553609167
|
|
NM_001354712.2(THRB):c.1351T>G (p.Phe451Val)
|
rs1057519028
|
|
NM_001367721.1(CASK):c.2604+1G>T
|
rs1555972599
|
|
NM_001369268.1(ACAN):c.1193T>A (p.Ile398Asn)
|
rs1555454545
|
|
NM_001374353.1(GLI2):c.1375G>C (p.Ala459Pro)
|
rs772017351
|
|
NM_001379500.1(COL18A1):c.1613G>T (p.Gly538Val)
|
rs1114167359
|
|
NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs)
|
rs749009747
|
|
NM_002693.2(POLG):c.[2693T>C];[924G>T]
|
|
|
NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter)
|
rs1554095568
|
|
NM_003060.4(SLC22A5):c.1365dup (p.Thr456fs)
|
rs878853248
|
|
NM_003060.4(SLC22A5):c.659A>T (p.Glu220Val)
|
rs878853249
|
|
NM_003140.3(SRY):c.227G>T (p.Arg76Leu)
|
rs1057519627
|
|
NM_003482.4(KMT2D):c.11475_11478del (p.Gln3826fs)
|
rs1057519067
|
|
NM_003482.4(KMT2D):c.11770C>T (p.Gln3924Ter)
|
rs886041106
|
|
NM_003482.4(KMT2D):c.125C>T (p.Ser42Phe)
|
rs1555198886
|
|
NM_003482.4(KMT2D):c.6765G>A (p.Leu2255=)
|
rs886037915
|
|
NM_004380.3(CREBBP):c.4134-1G>T
|
rs886041048
|
|
NM_004493.3(HSD17B10):c.592C>A (p.Pro198Thr)
|
rs886037927
|
|
NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met)
|
rs886044765
|
|
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)
|
rs886039769
|
|
NM_005189.3(CBX2):c.264del (p.Cys89fs)
|
rs1057519060
|
|
NM_005359.6(SMAD4):c.209A>G (p.Lys70Arg)
|
rs1555685038
|
|
NM_005491.5(MAMLD1):c.394G>T (p.Glu132Ter)
|
rs1135402752
|
|
NM_005921.2(MAP3K1):c.1923G>A (p.Met641Ile)
|
rs886041049
|
|
NM_014251.3(SLC25A13):c.495del (p.Ala166fs)
|
rs879255504
|
|
NM_014251.3(SLC25A13):c.616-11A>G
|
rs879255503
|
|
NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)
|
rs746155190
|
|
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile)
|
rs1114167372
|
|
NM_015909.4(NBAS):c.2065T>C (p.Leu689=)
|
rs1131692172
|
|
NM_017662.5(TRPM6):c.2495A>G (p.Tyr832Cys)
|
rs1060499646
|
|
NM_017662.5(TRPM6):c.3357C>A (p.Cys1119Ter)
|
rs1114167360
|
|
NM_017780.4(CHD7):c.5401C>A (p.His1801Asn)
|
rs1131692039
|
|
NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs)
|
rs886040962
|
|
NM_018668.4(VPS33B):c.[1030+1G>T];[319C>T]
|
|
|
NM_021044.4(DHH):c.1027T>C (p.Cys343Arg)
|
rs867798393
|
|
NM_021951.3(DMRT1):c.332G>T (p.Arg111Met)
|
rs1057519638
|
|
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]
|
|
|
NM_023110.3(FGFR1):c.2206T>C (p.Cys736Arg)
|
rs1554546677
|
|
NM_030665.4(RAI1):c.1748G>A (p.Ser583Asn)
|
rs1057519065
|
|
NM_030957.3(ADAMTS10):c.[2350C>T];[2521T>C]
|
|
|
NM_130839.5(UBE3A):c.2553_2569del (p.Ser851fs)
|
rs1057519062
|
|
NM_144773.4(PROKR2):c.97T>C (p.Tyr33His)
|
rs886037916
|
|
NM_145239.3(PRRT2):c.535_538del (p.Gln179fs)
|
rs1555502708
|
|
NM_176824.3(BBS7):c.1891-2A>C
|
rs1057519027
|
|
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)
|
rs746797123
|
|