NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
NM_001134363.3(RBM20):c.1338-1G>T
|
rs1265727354
|
0.00002
|
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)
|
rs199472697
|
0.00001
|
NM_000256.3(MYBPC3):c.3491-2A>T
|
rs397516022
|
0.00001
|
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe)
|
rs772258197
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.625T>G (p.Cys209Gly)
|
rs1600711065
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
NM_000138.5(FBN1):c.2114-2A>G
|
rs886041440
|
|
NM_000138.5(FBN1):c.2920dup (p.Arg974fs)
|
rs1555398825
|
|
NM_000138.5(FBN1):c.5016T>G (p.Cys1672Trp)
|
rs1555396848
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro)
|
rs1589931156
|
|
NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs)
|
rs1554427936
|
|
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.1622dup (p.Glu542fs)
|
rs1555122143
|
|
NM_000256.3(MYBPC3):c.1625-2A>G
|
rs112917345
|
|
NM_000256.3(MYBPC3):c.2190del (p.Lys731fs)
|
rs1555121467
|
|
NM_000256.3(MYBPC3):c.2994G>A (p.Gln998=)
|
rs1555120639
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
NM_000257.4(MYH7):c.3592G>T (p.Asp1198Tyr)
|
rs730880778
|
|
NM_000257.4(MYH7):c.646C>G (p.Leu216Val)
|
rs772488436
|
|
NM_000335.5(SCN5A):c.1A>T (p.Met1Leu)
|
rs1553607722
|
|
NM_000335.5(SCN5A):c.3954_3960+1dup
|
rs2061267874
|
|
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup)
|
rs1474459822
|
|
NM_000384.3(APOB):c.149G>A (p.Arg50Gln)
|
rs1465696669
|
|
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val)
|
rs752951310
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter)
|
rs2077524952
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg)
|
rs786205776
|
|
NM_001103.4(ACTN2):c.1793del (p.Pro598fs)
|
rs1553303871
|
|
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs)
|
rs727504763
|
|
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)
|
rs752697861
|
|
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs)
|
rs779549899
|
|
NM_001267550.2(TTN):c.40621A>T (p.Lys13541Ter)
|
rs869238992
|
|
NM_001267550.2(TTN):c.66770-2A>C
|
rs1553624468
|
|
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)
|
rs397516471
|
|
NM_004415.4(DSP):c.2630+1del
|
rs1554107651
|
|
NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln)
|
rs1555418785
|
|
NM_005902.4(SMAD3):c.1229_1244del (p.Val410fs)
|
rs1555414495
|
|
NM_005902.4(SMAD3):c.648del (p.His216fs)
|
rs1555412629
|
|
NM_007078.3(LDB3):c.1609del (p.Gln537fs)
|
rs727503129
|
|
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs)
|
rs1555637555
|
|