NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly)
|
rs141995194
|
0.00034
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys)
|
rs372435824
|
0.00006
|
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)
|
rs750938678
|
0.00006
|
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)
|
rs201174268
|
0.00005
|
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)
|
rs377368967
|
0.00005
|
NM_000531.6(OTC):c.85C>G (p.Gln29Glu)
|
rs752916728
|
0.00004
|
NM_000335.5(SCN5A):c.5747T>C (p.Leu1916Pro)
|
rs765713843
|
0.00003
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln)
|
rs769672624
|
0.00002
|
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly)
|
rs914460959
|
0.00001
|
NM_000268.4(NF2):c.1232G>A (p.Arg411His)
|
rs201214090
|
0.00001
|
NM_007294.4(BRCA1):c.43A>C (p.Ile15Leu)
|
rs80357031
|
0.00001
|
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)
|
rs80357076
|
0.00001
|
NM_000335.5(SCN5A):c.3065C>A (p.Thr1022Asn)
|
rs2061573479
|
|
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
|
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_001035.3(RYR2):c.5657dup (p.Lys1887fs)
|
rs786205273
|
|
NM_005902.4(SMAD3):c.266G>A (p.Cys89Tyr)
|
rs1962535460
|
|