|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.5733T>G (p.Tyr1911Ter)
|
rs770770257
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)
|
rs200444162
|
0.00002
|
|
NM_198525.3(KIF7):c.2593-3C>G
|
rs774403667
|
0.00002
|
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe)
|
rs794727154
|
0.00001
|
|
NC_000023.10:g.31890407_31909106del
|
|
|
|
NM_000037.4(ANK1):c.4140del (p.Leu1382fs)
|
|
|
|
NM_000193.4(SHH):c.1282del (p.Ala428fs)
|
rs1554493617
|
|
|
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg)
|
rs863223650
|
|
|
NM_000267.3:c.(3708_+1_3709-1)_(3974+1_3975-1)del
|
|
|
|
NM_000267.3:c.(?_-383)_(60+1_61-1)del
|
|
|
|
NM_001042492.3(NF1):c.1502_1503insGGAAATTCA (p.Ile500_His501insGlnGluIle)
|
|
|
|
NM_001042492.3(NF1):c.1642-1359A>T
|
|
|
|
NM_001042492.3(NF1):c.1768del (p.Met590fs)
|
|
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
|
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs)
|
rs1064794276
|
|
|
NM_001042492.3(NF1):c.4482_4483del (p.His1494fs)
|
rs1555618821
|
|
|
NM_001042492.3(NF1):c.5034_5040del (p.Val1677_Tyr1678insTer)
|
|
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
|
NM_001042492.3(NF1):c.6971del (p.Gln2324fs)
|
|
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
|
NM_001042492.3(NF1):c.8378-5214A>G
|
|
|
|
NM_001130682.3(GUCY1A1):c.1422del (p.Lys475fs)
|
|
|
|
NM_001206998.2(ZNRF3):c.1000C>T (p.Arg334Trp)
|
|
|
|
NM_001206998.2(ZNRF3):c.1031del (p.Pro344fs)
|
|
|
|
NM_001206998.2(ZNRF3):c.190del (p.Val64fs)
|
|
|
|
NM_001206998.2(ZNRF3):c.311T>C (p.Leu104Pro)
|
|
|
|
NM_001206998.2(ZNRF3):c.536C>T (p.Pro179Leu)
|
|
|
|
NM_001206998.2(ZNRF3):c.878G>A (p.Cys293Tyr)
|
|
|
|
NM_001206998.2(ZNRF3):c.887G>A (p.Cys296Tyr)
|
|
|
|
NM_001206998.2(ZNRF3):c.920G>A (p.Arg307Gln)
|
|
|
|
NM_001206998.2(ZNRF3):c.956G>A (p.Cys319Tyr)
|
|
|
|
NM_001206998.2(ZNRF3):c.965C>G (p.Pro322Arg)
|
|
|
|
NM_001206998.2:c.301-10827_426+11057del
|
|
|
|
NM_001286615.2(ANO4):c.1582G>A (p.Val528Met)
|
|
|
|
NM_001286615.2(ANO4):c.1674C>A (p.Asn558Lys)
|
|
|
|
NM_001286615.2(ANO4):c.1684A>T (p.Ile562Phe)
|
|
|
|
NM_001286615.2(ANO4):c.1688T>A (p.Met563Lys)
|
|
|
|
NM_001286615.2(ANO4):c.1807A>G (p.Asn603Asp)
|
|
|
|
NM_001286615.2(ANO4):c.2174T>C (p.Ile725Thr)
|
|
|
|
NM_001286615.2(ANO4):c.387C>G (p.Asn129Lys)
|
|
|
|
NM_001355436.2(SPTB):c.2749_2750del (p.Ser917fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.4314del (p.Glu1439fs)
|
rs1554084360
|
|
|
NM_001384732.1(CPLANE1):c.4643A>G (p.Asp1548Gly)
|
rs759649053
|
|
|
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)
|
rs387906592
|
|
|
NM_001846.4(COL4A2):c.3634G>A (p.Gly1212Ser)
|
|
|
|
NM_005343.4(HRAS):c.176C>G (p.Ala59Gly)
|
|
|
|
NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter)
|
rs1555999948
|
|
|
NM_006268.5(DPF2):c.970T>G (p.Cys324Gly)
|
|
|
|
NM_015335.5(MED13L):c.2504del (p.Pro835fs)
|
rs1555246952
|
|
|
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly)
|
rs1555246154
|
|
|
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)
|
rs1064794957
|
|
|
NM_198525.3(KIF7):c.1643dup (p.Arg549fs)
|
rs1555424684
|
|
|
NM_198525.3(KIF7):c.2164G>T (p.Glu722Ter)
|
rs1555424505
|
|
|
NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter)
|
rs387907045
|
|
|
NM_198525.3(KIF7):c.423_428del (p.His142_Val143del)
|
rs1555425036
|
|