NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)
|
rs762780994
|
0.00008
|
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00006
|
NM_000359.3(TGM1):c.425G>A (p.Arg142His)
|
rs121918718
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)
|
rs760956030
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)
|
rs761714818
|
0.00004
|
NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)
|
rs397514688
|
0.00003
|
NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu)
|
rs397514648
|
0.00003
|
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln)
|
rs370455806
|
0.00003
|
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)
|
rs180177207
|
0.00002
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)
|
rs398123794
|
0.00001
|
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg)
|
rs318240762
|
0.00001
|
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)
|
rs142500730
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)
|
rs587781302
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter)
|
rs1580023012
|
|
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)
|
rs749552056
|
|
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)
|
rs66527965
|
|
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)
|
rs67815019
|
|
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)
|
rs121913648
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly)
|
rs121908556
|
|
NM_000359.3(TGM1):c.1147G>A (p.Val383Met)
|
rs121918722
|
|
NM_000359.3(TGM1):c.1166G>A (p.Arg389His)
|
rs121918723
|
|
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)
|
rs773970123
|
|
NM_000372.5(TYR):c.286dup (p.Met96fs)
|
rs61753190
|
|
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer)
|
rs398123380
|
|
NM_000454.5(SOD1):c.313A>T (p.Ile105Phe)
|
rs121912445
|
|
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)
|
rs2148019913
|
|
NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter)
|
rs1237394833
|
|
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr)
|
rs2145895177
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_001134665.3(TRMT10A):c.277C>T (p.Arg93Ter)
|
rs1314619609
|
|
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)
|
rs387906574
|
|
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)
|
rs1602292076
|
|
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp)
|
rs1553704446
|
|
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)
|
rs1555168505
|
|
NM_001927.4(DES):c.1289-2A>G
|
rs398122940
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)
|
rs1589630141
|
|
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)
|
rs387907170
|
|
NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter)
|
rs1660173338
|
|
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)
|
rs587782996
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)
|
rs2137636957
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs)
|
rs1085307499
|
|
NM_020919.4(ALS2):c.1640+1G>A
|
rs2106074229
|
|
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)
|
rs147001633
|
|
NM_024596.5(MCPH1):c.321del (p.Lys107fs)
|
rs759663956
|
|
NM_024747.6(HPS6):c.1692dup (p.Phe565fs)
|
rs1384342700
|
|
NM_033305.3(VPS13A):c.4956+1G>A
|
rs1085307823
|
|
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter)
|
rs1833092121
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp)
|
rs121908462
|
|