NM_000277.3(PAH):c.60+62C>T
|
rs1522296
|
0.34408
|
NM_001171.6(ABCC6):c.346-6G>A
|
rs55778939
|
0.03265
|
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala)
|
rs3212989
|
0.02148
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)
|
rs61761068
|
0.00859
|
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=)
|
rs58668703
|
0.00784
|
NM_001171.6(ABCC6):c.3883-24G>A
|
rs59513011
|
0.00475
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_001171.6(ABCC6):c.*38G>A
|
rs59461468
|
0.00206
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_031307.4(PUS3):c.-47+3170T>C
|
rs104894232
|
0.00103
|
NM_001171.6(ABCC6):c.600+23C>T
|
rs72664290
|
0.00101
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_000392.5(ABCC2):c.1967+1G>A
|
rs146405172
|
0.00078
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
NM_003805.5(CRADD):c.509G>A (p.Arg170His)
|
rs141179774
|
0.00053
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile)
|
rs72653792
|
0.00044
|
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)
|
rs137941190
|
0.00006
|
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)
|
rs377750405
|
0.00006
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)
|
rs876661296
|
|
NM_006846.4(SPINK5):c.2468del (p.Lys823fs)
|
rs565782662
|
|
NM_024824.5(ZC3H14):c.2204+17_2204+41del
|
rs571303442
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|