NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)
|
rs776962899
|
0.00006
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
NM_001244710.2(GFPT1):c.686-2A>G
|
rs1011196447
|
0.00002
|
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)
|
rs200750564
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2257+1G>A
|
rs145809731
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_000033.4(ABCD1):c.1126del (p.Glu376fs)
|
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)
|
rs387906623
|
|
NM_000151.4(G6PC1):c.592_593del (p.Ile198fs)
|
rs2151932243
|
|
NM_000180.4(GUCY2D):c.3026T>A (p.Met1009Lys)
|
rs1452774826
|
|
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)
|
rs1057517096
|
|
NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter)
|
rs916332384
|
|
NM_000329.3(RPE65):c.1451-1G>A
|
rs1317871521
|
|
NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter)
|
rs1048935147
|
|
NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)
|
|
|
NM_000448.3(RAG1):c.1460T>G (p.Met487Arg)
|
rs1850812562
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_001009944.3(PKD1):c.1202-2A>G
|
rs2092662592
|
|
NM_001042492.3(NF1):c.1A>G (p.Met1Val)
|
rs1060500252
|
|
NM_001042492.3(NF1):c.2322dup (p.Glu775Ter)
|
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.5576T>G (p.Leu1859Ter)
|
rs2151541835
|
|
NM_001199198.3(TBC1D23):c.1018del (p.Val340fs)
|
|
|
NM_001298.3(CNGA3):c.77del (p.Asn26fs)
|
rs2104175554
|
|
NM_001365536.1(SCN9A):c.966-2_972del
|
|
|
NM_001378789.1(CERS3):c.540G>A (p.Trp180Ter)
|
|
|
NM_001848.3(COL6A1):c.2551_2562del (p.Phe851_Arg854del)
|
|
|
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del)
|
rs199474801
|
|
NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr)
|
rs756977475
|
|
NM_004447.6(EPS8):c.1424T>G (p.Leu475Ter)
|
rs2135785787
|
|
NM_005198.5(CHKB):c.737-1G>C
|
rs2146653379
|
|
NM_005249.5(FOXG1):c.584G>C (p.Arg195Pro)
|
rs1001642335
|
|
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter)
|
rs150465110
|
|
NM_015426.5(POC1A):c.80_81insA (p.Phe27fs)
|
|
|
NM_020919.4(ALS2):c.3703-2A>C
|
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_198129.4(LAMA3):c.5596C>T (p.Gln1866Ter)
|
rs763060857
|
|