|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
|
NM_000046.5(ARSB):c.783G>A (p.Lys261=)
|
rs575119903
|
0.00001
|
|
NM_000512.5(GALNS):c.1483-15A>G
|
rs1461992033
|
0.00001
|
|
NC_000017.11:g.80114186_80114187ins[80114172_80114186;NC_000020.11:g.2823027_2826302;AAA]
|
|
|
|
NM_000046.5(ARSB):c.1142+581A>G
|
|
|
|
NM_000046.5(ARSB):c.1142+671A>G
|
|
|
|
NM_000202.8(IDS):c.1006+2T>G
|
rs2089378420
|
|
|
NM_000202.8(IDS):c.1028G>A (p.Gly343Glu)
|
rs2089343063
|
|
|
NM_000202.8(IDS):c.1034G>C (p.Trp345Ser)
|
rs2089342988
|
|
|
NM_000202.8(IDS):c.103G>C (p.Asp35His)
|
rs2089514224
|
|
|
NM_000202.8(IDS):c.104-1_104delinsT
|
rs2089505743
|
|
|
NM_000202.8(IDS):c.1129del (p.Leu377fs)
|
rs2089341718
|
|
|
NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter)
|
rs2089341188
|
|
|
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del)
|
rs2089505317
|
|
|
NM_000202.8(IDS):c.1191del (p.Met398fs)
|
rs2089308367
|
|
|
NM_000202.8(IDS):c.1214_1220del (p.Ser405fs)
|
rs2089308167
|
|
|
NM_000202.8(IDS):c.1221del (p.Thr409fs)
|
rs2089308131
|
|
|
NM_000202.8(IDS):c.1234G>T (p.Gly412Ter)
|
rs2089307950
|
|
|
NM_000202.8(IDS):c.1239_1240insCT (p.Ala414fs)
|
rs2089307879
|
|
|
NM_000202.8(IDS):c.133del (p.Asp45fs)
|
rs2089504895
|
|
|
NM_000202.8(IDS):c.1340T>A (p.Leu447Ter)
|
rs2089306573
|
|
|
NM_000202.8(IDS):c.1353_1357del (p.Tyr452fs)
|
rs2089306333
|
|
|
NM_000202.8(IDS):c.136G>A (p.Asp46Asn)
|
rs2089504816
|
|
|
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr)
|
rs2089504816
|
|
|
NM_000202.8(IDS):c.1426_1437del (p.Asn476_Lys479del)
|
rs2089305217
|
|
|
NM_000202.8(IDS):c.1431del (p.Asp478fs)
|
rs2089305275
|
|
|
NM_000202.8(IDS):c.1438_1442del (p.Pro480fs)
|
rs2089305109
|
|
|
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs)
|
rs2089304532
|
|
|
NM_000202.8(IDS):c.240+2_240+3insTCTGGGA
|
rs2089503537
|
|
|
NM_000202.8(IDS):c.241-9C>G
|
rs2089497858
|
|
|
NM_000202.8(IDS):c.248del (p.Val83fs)
|
rs2089497718
|
|
|
NM_000202.8(IDS):c.283A>T (p.Arg95Trp)
|
rs2089497268
|
|
|
NM_000202.8(IDS):c.305del (p.Leu102fs)
|
rs2089496744
|
|
|
NM_000202.8(IDS):c.307T>G (p.Tyr103Asp)
|
rs2089496667
|
|
|
NM_000202.8(IDS):c.403A>G (p.Lys135Glu)
|
rs2089495673
|
|
|
NM_000202.8(IDS):c.512G>A (p.Cys171Tyr)
|
rs2089452802
|
|
|
NM_000202.8(IDS):c.590C>T (p.Pro197Leu)
|
rs2089451912
|
|
|
NM_000202.8(IDS):c.613del (p.Ala205fs)
|
rs2089451478
|
|
|
NM_000202.8(IDS):c.622TTG[1] (p.Leu209del)
|
rs2089451270
|
|
|
NM_000202.8(IDS):c.687del (p.His229fs)
|
rs2089450471
|
|
|
NM_000202.8(IDS):c.715_721del (p.Gln239fs)
|
rs2089438281
|
|
|
NM_000202.8(IDS):c.776_777dup (p.Pro260fs)
|
rs2089437359
|
|
|
NM_000202.8(IDS):c.786_787delinsC (p.Ala263fs)
|
rs2089437147
|
|
|
NM_000202.8(IDS):c.800_801del (p.Trp267fs)
|
rs2089436972
|
|
|
NM_000202.8(IDS):c.801dup (p.Met268fs)
|
rs2089436936
|
|
|
NM_000202.8(IDS):c.814C>T (p.Gln272Ter)
|
rs2089436689
|
|
|
NM_000202.8(IDS):c.829C>T (p.Gln277Ter)
|
rs2089436387
|
|
|
NM_000202.8(IDS):c.899_900del (p.Tyr300fs)
|
rs2089380268
|
|
|
NM_000202.8(IDS):c.998C>A (p.Ser333Ter)
|
rs104894853
|
|
|
NM_000202.8(IDS):c.[1411G>C;1418C>T]
|
|
|
|
NM_000284.4(PDHA1):c.1103_1108dup (p.Tyr369_Ser370insPheTyr)
|
|
|
|
NM_000284.4(PDHA1):c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387fs)
|
|
|
|
NM_000512.5(GALNS):c.1003-1570G>T
|
rs2142996885
|
|
|
NM_000925.4(PDHB):c.121C>T (p.Gln41Ter)
|
|
|
|
NM_000925.4(PDHB):c.615G>A (p.Met205Ile)
|
|
|
|
NM_001040716.2(PC):c.1372A>G (p.Asn458Asp)
|
rs2135822119
|
|
|
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp)
|
rs1591122325
|
|
|
NM_001040716.2(PC):c.1983-116C>T
|
rs2135805611
|
|
|
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp)
|
rs2135798857
|
|
|
NM_001040716.2(PC):c.2606G>C (p.Gly869Ala)
|
rs1555015018
|
|
|
NM_002637.4(PHKA1):c.521C>G (p.Ala174Gly)
|
rs2053946293
|
|
|
Single allele
|
|
|
|
t(1;11)(p36.32;q13.2)
|
|
|