NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg)
|
rs912556508
|
0.00002
|
NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter)
|
rs373272174
|
0.00002
|
NM_000255.4(MMUT):c.7A>T (p.Arg3Ter)
|
rs750583669
|
0.00001
|
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro)
|
rs545086633
|
0.00001
|
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)
|
rs119103226
|
0.00001
|
NM_000156.6(GAMT):c.181G>A (p.Gly61Arg)
|
rs1300512258
|
|
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs)
|
rs1303126934
|
|
NM_000195.5(HPS1):c.875_878del (p.Asp292fs)
|
rs1846105381
|
|
NM_000255.4(MMUT):c.-39-2A>G
|
rs1767786464
|
|
NM_000255.4(MMUT):c.1102del (p.Val368fs)
|
rs1767558588
|
|
NM_000255.4(MMUT):c.1107dup (p.Thr370fs)
|
rs1767558268
|
|
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del)
|
rs1767553642
|
|
NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter)
|
rs1767549304
|
|
NM_000255.4(MMUT):c.1560+2T>C
|
rs1767442652
|
|
NM_000255.4(MMUT):c.1581dup (p.Ala528fs)
|
rs1767368923
|
|
NM_000255.4(MMUT):c.1645del (p.Leu549fs)
|
rs1767365298
|
|
NM_000255.4(MMUT):c.1673C>T (p.Ala558Val)
|
rs1289671563
|
|
NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg)
|
rs1767289269
|
|
NM_000255.4(MMUT):c.1787del (p.Glu596fs)
|
rs1767284074
|
|
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu)
|
rs565348836
|
|
NM_000255.4(MMUT):c.446dup (p.Asp149fs)
|
rs1767737608
|
|
NM_000255.4(MMUT):c.652C>G (p.Gln218Glu)
|
rs764347583
|
|
NM_000255.4(MMUT):c.893T>A (p.Ile298Asn)
|
rs1767678885
|
|
NM_000344.4(SMN1):c.*3+3A>T
|
rs1749776954
|
|
NM_000344.4(SMN1):c.280G>T (p.Val94Phe)
|
rs1749440512
|
|
NM_001001344.3(ATP2B3):c.2770A>G (p.Thr924Ala)
|
rs2124491843
|
|
NM_001032221.6(STXBP1):c.1110+3A>C
|
rs2131501481
|
|
NM_001040142.2(SCN2A):c.4493A>C (p.Tyr1498Ser)
|
rs1558879863
|
|
NM_001077365.2(POMT1):c.2145_2156del (p.Lys715_Asp719delinsAsn)
|
rs1564395473
|
|
NM_001110792.2(MECP2):c.398A>T (p.Asp133Val)
|
rs61755762
|
|
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)
|
rs2105449751
|
|
NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln)
|
rs2154255374
|
|
NM_001368809.2(AMPD2):c.1859G>T (p.Arg620Leu)
|
rs587777395
|
|
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr)
|
rs777624606
|
|
NM_003859.3(DPM1):c.371A>G (p.His124Arg)
|
rs2123115725
|
|
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter)
|
rs1643667928
|
|
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter)
|
rs1570829502
|
|
NM_019023.5(PRMT7):c.927G>T (p.Gln309His)
|
rs1597361540
|
|
NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter)
|
rs940319528
|
|
NM_024747.6(HPS6):c.335G>A (p.Trp112Ter)
|
rs2067964057
|
|
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn)
|
rs2145541173
|
|
Single allele
|
|
|