NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)
|
rs34315917
|
0.00388
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln)
|
rs142672241
|
0.00331
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala)
|
rs142708991
|
0.00290
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)
|
rs115198029
|
0.00250
|
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys)
|
rs34096980
|
0.00245
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg)
|
rs148372053
|
0.00204
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)
|
rs28544073
|
0.00184
|
NM_012210.4(TRIM32):c.558G>C (p.Gln186His)
|
rs117599771
|
0.00183
|
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)
|
rs147707348
|
0.00181
|
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu)
|
rs142648687
|
0.00179
|
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys)
|
rs150046979
|
0.00175
|
NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu)
|
rs149709084
|
0.00173
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)
|
rs148293985
|
0.00169
|
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)
|
rs145709687
|
0.00152
|
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala)
|
rs148453565
|
0.00151
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile)
|
rs149316006
|
0.00140
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00137
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)
|
rs115488133
|
0.00124
|
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)
|
rs61740537
|
0.00123
|
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr)
|
rs149121639
|
0.00114
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile)
|
rs35759430
|
0.00108
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
0.00092
|
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)
|
rs76086153
|
0.00080
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)
|
rs193204986
|
0.00077
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)
|
rs143895253
|
0.00055
|
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)
|
rs149659876
|
0.00044
|
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)
|
rs371839994
|
0.00030
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)
|
rs140493115
|
0.00021
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
NM_004006.3(DMD):c.7016A>G (p.His2339Arg)
|
rs398124041
|
0.00001
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del)
|
rs41550117
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
Single allele
|
|
|