NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
NM_000318.3(PEX2):c.-17-2A>G
|
rs1289852067
|
0.00001
|
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter)
|
rs387907106
|
0.00001
|
NM_000091.5(COL4A3):c.305del (p.Ser102fs)
|
rs2069242131
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000124.4(ERCC6):c.543+1G>T
|
rs1837448977
|
|
NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)
|
|
|
NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)
|
|
|
NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)
|
|
|
NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)
|
|
|
NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)
|
|
|
NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)
|
|
|
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly)
|
rs1555633697
|
|
NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)
|
|
|
NM_000271.5(NPC1):c.2758G>A (p.Val920Met)
|
|
|
NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)
|
|
|
NM_000271.5(NPC1):c.2795+56C>T
|
rs2058685029
|
|
NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)
|
|
|
NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)
|
|
|
NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)
|
|
|
NM_000271.5(NPC1):c.3279CAT[1] (p.Ile1095del)
|
|
|
NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)
|
|
|
NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)
|
|
|
NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)
|
|
|
NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)
|
|
|
NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)
|
|
|
NM_000271.5(NPC1):c.392dup (p.Asp131fs)
|
|
|
NM_000271.5(NPC1):c.497C>A (p.Pro166His)
|
|
|
NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)
|
|
|
NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)
|
|
|
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
|
|
|
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
|
|
|
NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)
|
|
|
NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs)
|
rs2045366127
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_005199.5(CHRNG):c.351-9T>C
|
rs764382582
|
|
NM_005807.6(PRG4):c.2247del (p.Ala750fs)
|
rs1656851989
|
|
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs)
|
rs769917456
|
|
NM_005807.6(PRG4):c.3462_3465del (p.Thr1155fs)
|
rs768053349
|
|
NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs)
|
rs2041157497
|
|
NM_006984.5(CLDN10):c.653del (p.Pro218fs)
|
rs2043960821
|
|
NM_015910.7(WDPCP):c.253+2T>C
|
rs1700584499
|
|
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter)
|
rs749597091
|
|
NM_020680.4(SCYL1):c.1386+1G>T
|
rs201581270
|
|
NM_022089.4(ATP13A2):c.1837C>T (p.Gln613Ter)
|
rs2100785804
|
|
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs)
|
rs1766797963
|
|
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)
|
rs1554961118
|
|
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)
|
rs1565019928
|
|