|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
|
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg)
|
rs372526764
|
0.00001
|
|
NM_002615.7(SERPINF1):c.907C>T (p.Arg303Ter)
|
rs763291398
|
0.00001
|
|
NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp)
|
rs281875287
|
0.00001
|
|
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)
|
rs180177225
|
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
|
NM_000044.6(AR):c.1768+2T>C
|
rs1555982894
|
|
|
NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe)
|
rs1064797072
|
|
|
NM_000054.7(AVPR2):c.878G>A (p.Trp293Ter)
|
rs1064797077
|
|
|
NM_000096.4(CP):c.1679G>T (p.Cys560Phe)
|
rs1064797073
|
|
|
NM_000127.3(EXT1):c.1418-2A>G
|
rs1554578802
|
|
|
NM_000230.3(LEP):c.461T>C (p.Leu154Pro)
|
rs1554394014
|
|
|
NM_000237.3(LPL):c.904T>C (p.Cys302Arg)
|
rs1064797075
|
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
|
NM_000492.4(CFTR):c.640C>G (p.Leu214Val)
|
rs188457893
|
|
|
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn)
|
rs1554305880
|
|
|
NM_000500.9(CYP21A2):c.1136T>A (p.Ile379Asn)
|
rs1429901248
|
|
|
NM_000500.9(CYP21A2):c.159_160del (p.Gln54fs)
|
rs886038207
|
|
|
NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly)
|
rs1554304513
|
|
|
NM_001040716.2(PC):c.1368+1G>A
|
rs755640269
|
|
|
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs)
|
rs1064797076
|
|
|
NM_003590.5(CUL3):c.1377G>A (p.Lys459=)
|
rs886038765
|
|
|
NM_003647.3(DGKE):c.728_731del (p.Ile242_Leu243insTer)
|
rs1064797074
|
|
|
NM_004006.3(DMD):c.497G>T (p.Gly166Val)
|
rs1557052538
|
|
|
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)
|
rs764698870
|
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
|
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)
|
rs137852813
|
|
|
NM_006261.5(PROP1):c.3G>C (p.Met1Ile)
|
rs1064797071
|
|
|
NM_020975.6(RET):c.2410G>T (p.Val804Leu)
|
rs79658334
|
|
|
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg)
|
rs104886225
|
|