NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)
|
rs119468010
|
0.00173
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
NM_198076.6(COX20):c.157+3G>C
|
rs367956888
|
0.00066
|
NM_001086521.2(NDUFAF8):c.195+271C>T
|
rs745332456
|
0.00063
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_001395891.1(CLASP1):c.196-567G>A
|
rs559979281
|
0.00038
|
NM_016146.6(TRAPPC4):c.454+3A>G
|
rs375776811
|
0.00025
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)
|
rs140614802
|
0.00003
|
NM_176787.5(PIGN):c.1251+1G>A
|
rs1462805697
|
0.00003
|
NM_000264.5(PTCH1):c.395-1G>A
|
rs368869806
|
0.00001
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
NM_003119.4(SPG7):c.2271del (p.Met757fs)
|
rs1217391623
|
0.00001
|
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)
|
rs781984979
|
0.00001
|
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg)
|
rs752298579
|
0.00001
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)
|
rs1232880706
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)
|
rs555145190
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_001083962.2(TCF4):c.1486+1G>T
|
rs2048816852
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)
|
rs886039469
|
|
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp)
|
rs1475000361
|
|
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
|
rs12131800
|
|
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)
|
rs1554389088
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)
|
rs1057518083
|
|
NM_001395891.1(CLASP1):c.196-570C>T
|
rs750325275
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)
|
rs138726443
|
|
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
|
|
|
NM_003334.4(UBA1):c.121A>G (p.Met41Val)
|
rs1936307795
|
|
NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer)
|
rs2102658561
|
|
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)
|
rs1567876984
|
|
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
|
rs397516915
|
|
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
|
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)
|
rs587777428
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
NM_020320.5(RARS2):c.1612del (p.Thr538fs)
|
rs781417096
|
|
NM_020964.3(EPG5):c.5943-9_5943-5del
|
rs773330060
|
|
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs)
|
rs786205124
|
|
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)
|
rs1052954321
|
|
NM_030632.3(ASXL3):c.3039+1G>A
|
rs1555743003
|
|
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)
|
rs1331463984
|
|
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)
|
rs1060505041
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
Single allele
|
|
|
m.8344A>G
|
rs118192098
|
|