NM_032885.6(ATG4D):c.266G>A (p.Ser89Asn)
|
rs200278873
|
0.00075
|
NM_032885.6(ATG4D):c.839A>G (p.Tyr280Cys)
|
rs148969864
|
0.00063
|
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
|
rs137852959
|
0.00024
|
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp)
|
rs527236031
|
0.00004
|
NM_020198.3(CCDC47):c.1145del (p.Leu382fs)
|
rs750123815
|
0.00003
|
NM_001364857.2(ADGRB2):c.4393C>T (p.Arg1465Trp)
|
rs778361520
|
0.00002
|
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)
|
rs137852967
|
0.00002
|
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp)
|
rs199624796
|
0.00002
|
NM_000124.4(ERCC6):c.543+4del
|
rs527236039
|
0.00001
|
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)
|
rs527236037
|
0.00001
|
NM_001349.4(DARS1):c.839A>T (p.His280Leu)
|
rs527236040
|
0.00001
|
NM_006302.3(MOGS):c.329G>A (p.Arg110His)
|
rs863225089
|
0.00001
|
NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter)
|
rs1269750663
|
0.00001
|
NM_020198.3(CCDC47):c.811C>T (p.Arg271Ter)
|
rs749027804
|
0.00001
|
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu)
|
rs527236038
|
|
NM_000834.5(GRIN2B):c.1238A>G (p.Glu413Gly)
|
rs527236034
|
|
NM_001046.3(SLC12A2):c.3076_3086del (p.Val1026fs)
|
rs886040968
|
|
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe)
|
rs527236030
|
|
NM_004595.5(SMS):c.443A>G (p.Gln148Arg)
|
rs397515551
|
|
NM_004830.4(MED23):c.3638A>G (p.His1213Arg)
|
rs527236035
|
|
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter)
|
rs527236036
|
|
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)
|
rs1589088690
|
|
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)
|
rs1554823375
|
|
NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)
|
rs1589088702
|
|
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)
|
rs1589088703
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_015937.6(PIGT):c.918_919insT (p.Val307fs)
|
rs527236032
|
|
NM_020198.3(CCDC47):c.1165del (p.Ser389fs)
|
rs1568246398
|
|
NM_030665.4(RAI1):c.2273G>A (p.Trp758Ter)
|
rs527236033
|
|
NM_032885.6(ATG4D):c.1066G>A (p.Asp356Asn)
|
rs1289649383
|
|
NM_032885.6(ATG4D):c.1310_1328del (p.Asp437fs)
|
|
|
Single allele
|
|
|