NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)
|
rs267607016
|
0.00001
|
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)
|
rs753621591
|
0.00001
|
NM_006907.4(PYCR1):c.356G>A (p.Arg119His)
|
rs121918377
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)
|
rs532964185
|
0.00001
|
NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter)
|
rs373520509
|
0.00001
|
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs)
|
rs752041565
|
|
NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)
|
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1733_1734del (p.Leu578fs)
|
rs1562907232
|
|
NM_001130987.2(DYSF):c.1560del (p.Gly521fs)
|
rs1456182703
|
|
NM_001130987.2(DYSF):c.1562del (p.Gly521fs)
|
rs1559109621
|
|
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)
|
rs1553521017
|
|
NM_001136035.4(TRMT1):c.1834-7C>T
|
|
|
NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs)
|
rs746572548
|
|
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)
|
rs767004810
|
|
NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter)
|
rs121909083
|
|
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter)
|
rs267606725
|
|
NM_005866.4(SIGMAR1):c.238C>T (p.Gln80Ter)
|
rs1564096221
|
|
NM_012233.3(RAB3GAP1):c.1237-2A>G
|
rs1558792168
|
|
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter)
|
rs1558805900
|
|
NM_012463.4(ATP6V0A2):c.294+1G>A
|
rs80356751
|
|
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser)
|
rs1566054340
|
|
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp)
|
rs1566071225
|
|
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile)
|
rs1566069517
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs)
|
rs1567620939
|
|
NM_016239.4(MYO15A):c.6503T>G (p.Leu2168Arg)
|
rs1567648703
|
|
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)
|
rs1568107449
|
|
NM_024298.5(MBOAT7):c.604G>C (p.Gly202Arg)
|
|
|
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter)
|
rs768724007
|
|
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)
|
rs1131692048
|
|