NM_000156.6(GAMT):c.227C>T (p.Ser76Leu)
|
rs150338273
|
0.00036
|
NM_000156.6(GAMT):c.570+161T>A
|
rs368296913
|
0.00035
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
NM_000026.4(ADSL):c.357+6C>T
|
rs181628906
|
0.00015
|
NM_000156.6(GAMT):c.662G>A (p.Arg221His)
|
rs766553422
|
0.00009
|
NM_004975.4(KCNB1):c.1266G>C (p.Glu422Asp)
|
rs755843579
|
0.00009
|
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln)
|
rs374047157
|
0.00004
|
NM_000026.4(ADSL):c.11G>T (p.Gly4Val)
|
rs766546584
|
0.00003
|
NM_000156.6(GAMT):c.167C>T (p.Ala56Val)
|
rs575350720
|
0.00003
|
NM_177550.5(SLC13A5):c.998G>A (p.Arg333Gln)
|
rs1379095103
|
0.00003
|
NM_016373.4(WWOX):c.517-108243C>T
|
rs551189075
|
0.00002
|
NM_000156.6(GAMT):c.20C>A (p.Thr7Asn)
|
rs761687649
|
0.00001
|
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly)
|
rs757605946
|
0.00001
|
NM_001271.4(CHD2):c.594G>C (p.Gln198His)
|
rs374064833
|
0.00001
|
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp)
|
rs1218269439
|
0.00001
|
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser)
|
rs769269501
|
0.00001
|
NM_001482.3(GATM):c.1231G>A (p.Asp411Asn)
|
rs768171759
|
0.00001
|
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His)
|
rs552928943
|
0.00001
|
NM_000026.4(ADSL):c.1393G>C (p.Val465Leu)
|
rs1569104977
|
|
NM_000071.3(CBS):c.1082C>T (p.Ala361Val)
|
rs370851632
|
|
NM_000170.3(GLDC):c.2569+8T>G
|
rs894742250
|
|
NM_000836.4(GRIN2D):c.2695_2697delinsACC (p.Ala899Thr)
|
|
|
NM_000836.4(GRIN2D):c.3847C>T (p.Pro1283Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=)
|
rs908321451
|
|
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr)
|
|
|
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
|
rs775428832
|
|
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg)
|
rs1567139944
|
|
NM_001271.4(CHD2):c.1805A>G (p.Asp602Gly)
|
rs1567140845
|
|
NM_001330260.2(SCN8A):c.4282-10C>G
|
rs369145855
|
|
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
|
|
|
NM_001958.5(EEF1A2):c.1286T>G (p.Met429Arg)
|
|
|
NM_001958.5(EEF1A2):c.532A>T (p.Ile178Phe)
|
rs765056369
|
|
NM_003982.4(SLC7A7):c.460C>G (p.Pro154Ala)
|
|
|
NM_004408.4(DNM1):c.1872C>T (p.Gly624=)
|
rs1367619284
|
|
NM_004975.4(KCNB1):c.2279C>A (p.Thr760Lys)
|
|
|
NM_005629.4(SLC6A8):c.1478T>C (p.Val493Ala)
|
|
|
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup)
|
rs1485709375
|
|
NM_021072.4(HCN1):c.2019G>A (p.Leu673=)
|
rs767602409
|
|
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del)
|
rs747975797
|
|