|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
|
NM_001905.4(CTPS1):c.1692-1G>C
|
rs145092287
|
0.00015
|
|
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
|
rs104894317
|
0.00011
|
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
|
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)
|
rs369227537
|
0.00010
|
|
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)
|
rs28929768
|
0.00002
|
|
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)
|
rs121909512
|
0.00001
|
|
NM_000551.4(VHL):c.340+770T>C
|
rs1346312258
|
0.00001
|
|
NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter)
|
rs121908952
|
0.00001
|
|
NM_018518.5(MCM10):c.764+5G>A
|
rs781204418
|
0.00001
|
|
NC_000023.11:g.25013829_25017090del
|
|
|
|
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)
|
|
|
|
NM_000080.4(CHRNE):c.1032+1G>C
|
|
|
|
NM_000138.5(FBN1):c.4265del (p.Asn1422fs)
|
|
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
|
NM_000443.4(ABCB4):c.2200G>T (p.Glu734Ter)
|
|
|
|
NM_001110556.2(FLNA):c.7545dup (p.Val2516fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
|
NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)
|
rs781213892
|
|
|
NM_001374736.1(DST):c.16584_16587del (p.Asn5529fs)
|
|
|
|
NM_002838.5(PTPRC):c.2295C>G (p.Tyr765Ter)
|
rs1571880832
|
|
|
NM_003052.5(SLC34A1):c.241dup (p.Glu81fs)
|
rs1174958403
|
|
|
NM_003119.4(SPG7):c.1450-1_1457del
|
rs768823392
|
|
|
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)
|
rs104894312
|
|
|
NM_003722.5(TP63):c.1350-75_1492del
|
rs1577195893
|
|
|
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys)
|
rs28939089
|
|
|
NM_004523.4(KIF11):c.1288GAG[2] (p.Glu432del)
|
rs1554861545
|
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
|
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)
|
rs199474721
|
|
|
NM_014991.6(WDFY3):c.2345+1G>A
|
|
|
|
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)
|
rs121908991
|
|
|
NM_016373.4(WWOX):c.705dup (p.His236fs)
|
rs1597216056
|
|
|
NM_016373.4:c.517-94998_1056+78427del
|
|
|
|
NM_017909.4(RMND1):c.108del (p.Phe36fs)
|
|
|
|
NM_018518.5(MCM10):c.236del (p.Gly79fs)
|
rs2131558198
|
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
|
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter)
|
rs387906632
|
|
|
NM_138370.3(PKDCC):c.939dup (p.Leu314fs)
|
|
|
|
NM_138387.4(G6PC3):c.911dup (p.Gln305fs)
|
rs34019455
|
|
|
NM_173630.4(RTTN):c.2670_2670+2del
|
|
|
|
NM_182931.3(KMT2E):c.3672_3673del (p.Tyr1224_Asn1225delinsTer)
|
rs1584808269
|
|
|
NM_203447.4(DOCK8):c.6019dup (p.Tyr2007fs)
|
rs869312169
|
|
|
Single allele
|
|
|