ClinVar Miner

List of variants studied for classic organic aciduria by Invitae

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3637
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_24140670)_(24194786_?)del
NC_000001.11:g.(?_23825336)_(23825435_?)del
NC_000001.11:g.(?_45500323)_(45509225_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)dup
NC_000002.11:g.(?_150443583)_(150443631_?)del
NC_000002.12:g.(?_149569954)_(149587117_?)del
NC_000002.12:g.(?_149569964)_(149587107_?)del
NC_000002.12:g.(?_71109950)_(71130239_?)del
NC_000003.11:g.(?_136012588)_(136035916_?)del
NC_000003.11:g.(?_136019910_136021257del
NC_000003.11:g.(?_15683405)_(15687154_?)del
NC_000003.11:g.(?_182733206)_(182733374_?)del
NC_000003.11:g.(?_182810187)_(182810343_?)del
NC_000003.11:g.(?_182817140)_(182817228_?)del
NC_000003.12:g.(?_136250366)_(136250568_?)del
NC_000003.12:g.(?_136316921)_(136317084_?)del
NC_000003.12:g.(?_15601831)_(15601914_?)del
NC_000003.12:g.(?_183052139)_(183052260_?)del
NC_000003.12:g.(?_183070989)_(183072497_?)del
NC_000003.12:g.(?_183092389)_(183092565_?)del
NC_000003.12:g.(?_183092399)_(183094615_?)dup
NC_000004.12:g.(?_145639120)_(145642505_?)del
NC_000005.10:g.(?_71587406)_(71656880_?)del
NC_000005.10:g.(?_71599649)_(71599770_?)del
NC_000005.10:g.(?_71626620)_(71649273_?)del
NC_000005.10:g.71632121del
NC_000005.9:g.(?_70892097)_(70892201_?)del
NC_000005.9:g.(?_70895466)_(70895607_?)del
NC_000005.9:g.(?_70936810)_(70936922_?)del
NC_000006.11:g.(?_49407899)_(49427199_?)dup
NC_000006.12:g.(?_49447660)_(49459506_?)del
NC_000006.12:g.(?_49456070)_(49456247_?)del
NC_000009.12:g.(?_91220785)_(91221012_?)del
NC_000010.11:g.(?_123034356)_(123041379_?)del
NC_000011.10:g.(?_108121597)_(108147400_?)del
NC_000011.10:g.(?_108138888)_(108140225_?)del
NC_000011.10:g.(?_108147260)_(108147400_?)del
NC_000011.10:g.(?_72293347)_(72434494_?)del
NC_000011.10:g.(?_72372905)_(72380404_?)del
NC_000011.9:g.(?_107992324)_(107992415_?)del
NC_000011.9:g.(?_108004537)_(108005053_?)dup
NC_000011.9:g.(?_108009615)_(108009778_?)del
NC_000011.9:g.(?_72083949)_(72084078_?)del
NC_000012.12:g.(?_109561020)_(109565196_?)del
NC_000013.10:g.(?_100861566)_(100861737_?)del
NC_000013.10:g.(?_100953694)_(100962182_?)dup
NC_000013.10:g.(?_100953694)_(101078005_?)del
NC_000013.10:g.(?_101020716)_(101101569_?)del
NC_000013.10:g.(?_101077867)_(101182440_?)dup
NC_000013.11:g.(?_100111821)_(100112081_?)del
NC_000013.11:g.(?_100111831)_(100112071_?)del
NC_000013.11:g.(?_100154969)_(100273356_?)del
NC_000013.11:g.(?_100209322)_(100235888_?)del
NC_000013.11:g.(?_100268679)_(100268793_?)del
NC_000013.11:g.(?_100301450)_(100425741_?)del
NC_000013.11:g.(?_100301460)_(100425731_?)del
NC_000013.11:g.(?_100330541)_(100368594_?)del
NC_000013.11:g.(?_100425613)_(100425751_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)del
NC_000013.11:g.(?_100527655)_(100530186_?)del
NC_000013.11:g.(?_100527665)_(100530447_?)del
NC_000015.10:g.(?_40412971)_(40418283_?)del
NC_000015.10:g.(?_40413063)_(40414126_?)del
NC_000015.10:g.(?_40416058)_(40418283_?)del
NC_000015.10:g.(?_40416068)_(40418273_?)del
NC_000015.10:g.(?_40418110)_(40418283_?)del
NC_000015.9:g.(?_40698000)_(40700209_?)del
NC_000015.9:g.(?_40699827)_(40710472_?)del
NC_000016.10:g.(?_89100662)_(89154227_?)dup
NC_000016.10:g.89100703_89111915del
NC_000016.9:g.(?_89160207)_(89212467_?)del
NC_000016.9:g.(?_89167070)_(89180915_?)del
NC_000016.9:g.(?_89167070)_(89187341_?)dup
NC_000016.9:g.(?_89167111_89178323del
NC_000016.9:g.(?_89178490)_(89207694_?)del
NC_000016.9:g.(?_89178490)_(89212467_?)dup
NC_000016.9:g.(?_89187199)_(89222264_?)del
NC_000016.9:g.(?_89199534)_(89199680_?)del
NC_000016.9:g.89178499del
NC_000019.10:g.(?_45553504)_(45553921_?)del
NC_000019.10:g.(?_45584613)_(45584774_?)del
NC_000021.8:g.(?_37133458)_(38311203_?)dup
NC_000021.8:g.(?_38269140)_(38269451_?)del
NC_000021.8:g.(?_38269140)_(38311203_?)del
NC_000021.8:g.(?_38302541)_(38311304_?)del
NC_000021.9:g.(?_36765002)_(36767295_?)del
NC_000021.9:g.(?_36930231)_(36930453_?)dup
NC_000021.9:g.(?_36938822)_(36939004_?)del
NC_000023.10:g.(?_153639844)_(153642537_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NC_000023.10:g.(?_153647872)_(153650075_?)del
NM_000019.3(ACAT1):c.1006-10_1006-9ins171
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=)
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=)
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter)
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=)
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val) rs1591374695
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=)
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=)
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143
NM_000019.4(ACAT1):c.1147C>T (p.Leu383=)
NM_000019.4(ACAT1):c.1163+1G>A
NM_000019.4(ACAT1):c.1173dup (p.Ala392fs)
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs)
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr) rs201183545
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup)
NM_000019.4(ACAT1):c.126G>T (p.Val42=)
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)
NM_000019.4(ACAT1):c.1281G>A (p.Leu427=)
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val)
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
NM_000019.4(ACAT1):c.177T>G (p.Leu59=)
NM_000019.4(ACAT1):c.192C>T (p.Ala64=)
NM_000019.4(ACAT1):c.225C>T (p.Ala75=)
NM_000019.4(ACAT1):c.229del (p.Glu77fs)
NM_000019.4(ACAT1):c.22C>T (p.Leu8=)
NM_000019.4(ACAT1):c.233del (p.Lys78fs)
NM_000019.4(ACAT1):c.238+17C>T
NM_000019.4(ACAT1):c.238+8G>T
NM_000019.4(ACAT1):c.239-6dup
NM_000019.4(ACAT1):c.239-8T>A rs202030208
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
NM_000019.4(ACAT1):c.264A>G (p.Glu88=)
NM_000019.4(ACAT1):c.267A>C (p.Ala89=)
NM_000019.4(ACAT1):c.267A>G (p.Ala89=)
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser) rs1591362402
NM_000019.4(ACAT1):c.291A>C (p.Gly97=)
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) rs120074142
NM_000019.4(ACAT1):c.312A>G (p.Thr104=)
NM_000019.4(ACAT1):c.325T>C (p.Leu109=)
NM_000019.4(ACAT1):c.330T>C (p.Gly110=)
NM_000019.4(ACAT1):c.334+8G>A
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)
NM_000019.4(ACAT1):c.354A>G (p.Pro118=)
NM_000019.4(ACAT1):c.360C>T (p.Thr120=)
NM_000019.4(ACAT1):c.36C>G (p.Ala12=)
NM_000019.4(ACAT1):c.36C>T (p.Ala12=)
NM_000019.4(ACAT1):c.375T>C (p.Val125=)
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) rs374439037
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) rs1591363800
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe)
NM_000019.4(ACAT1):c.42C>T (p.Ser14=)
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436-5C>T rs369472868
NM_000019.4(ACAT1):c.436-7T>C rs775534544
NM_000019.4(ACAT1):c.436-8C>T
NM_000019.4(ACAT1):c.438T>C (p.Asp146=)
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)
NM_000019.4(ACAT1):c.507A>T (p.Pro169=) rs201456540
NM_000019.4(ACAT1):c.513T>C (p.Gly171=)
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325
NM_000019.4(ACAT1):c.546C>T (p.Asp182=)
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141
NM_000019.4(ACAT1):c.571del (p.Ile191fs)
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) rs541517496
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000019.4(ACAT1):c.580-5dup
NM_000019.4(ACAT1):c.580-7T>C rs565210496
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)
NM_000019.4(ACAT1):c.603A>G (p.Ala201=) rs1591368730
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.622C>A (p.Arg208=) rs532190594
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) rs532190594
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594
NM_000019.4(ACAT1):c.627T>C (p.Asn209=)
NM_000019.4(ACAT1):c.636C>T (p.Asp212=)
NM_000019.4(ACAT1):c.642T>C (p.Tyr214=)
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)
NM_000019.4(ACAT1):c.64_72+10del
NM_000019.4(ACAT1):c.666T>C (p.Ser222=)
NM_000019.4(ACAT1):c.684T>C (p.Ala228=)
NM_000019.4(ACAT1):c.687G>A (p.Gly229=) rs545578010
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)
NM_000019.4(ACAT1):c.72+10G>T
NM_000019.4(ACAT1):c.731-6T>C
NM_000019.4(ACAT1):c.738A>G (p.Pro246=)
NM_000019.4(ACAT1):c.749del (p.Val250fs)
NM_000019.4(ACAT1):c.759T>C (p.Asp253=)
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946
NM_000019.4(ACAT1):c.777T>C (p.Val259=)
NM_000019.4(ACAT1):c.810T>C (p.Val270=)
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
NM_000019.4(ACAT1):c.826+1G>T rs727503796
NM_000019.4(ACAT1):c.831A>G (p.Thr277=)
NM_000019.4(ACAT1):c.846T>C (p.Asn282=)
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=)
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) rs1239221388
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
NM_000019.4(ACAT1):c.864T>C (p.Asp288=)
NM_000019.4(ACAT1):c.867A>C (p.Gly289=)
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.918T>A (p.Val306=) rs200318899
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146
NM_000019.4(ACAT1):c.940+2T>C
NM_000019.4(ACAT1):c.941-9T>G
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) rs780486838
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447
NM_000019.4(ACAT1):c.996T>C (p.Ala332=)
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147
NM_000116.5(TAFAZZIN):c.109+5G>A
NM_000116.5(TAFAZZIN):c.109+8G>A
NM_000116.5(TAFAZZIN):c.110-17= rs62617809
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.110-6C>T rs782099193
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) rs368329470
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) rs1557191148
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)
NM_000116.5(TAFAZZIN):c.236_238+5del
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.238+6C>T rs781786197
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.239-7C>T
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+4A>T rs1603377638
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala99_Ala100insTer)
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=)
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.371-6C>A rs782195445
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys)
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu)
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile)
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) rs1603378339
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) rs782253789
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val)
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val)
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655
NM_000116.5(TAFAZZIN):c.460+5G>A
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg)
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=) rs1603381303
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) rs782173851
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=)
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=)
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) rs1603376560
NM_000116.5(TAFAZZIN):c.528_541+7del
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744
NM_000116.5(TAFAZZIN):c.541+10G>A
NM_000116.5(TAFAZZIN):c.541+5G>A
NM_000116.5(TAFAZZIN):c.542-2A>G
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu)
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=) rs782471244
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=) rs36005334
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) rs375663114
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=) rs141773967
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) rs1557193924
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.584-7del rs782192927
NM_000116.5(TAFAZZIN):c.584-9C>A
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His)
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=)
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) rs781893396
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) rs727504431
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) rs140751478
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=) rs372610945
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) rs1603381820
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) rs782655300
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) rs782123597
NM_000116.5(TAFAZZIN):c.700-5C>T rs782731479
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=)
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly)
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) rs782653725
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) rs1042313041
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) rs926124671
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=)
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=) rs782273950
NM_000116.5(TAFAZZIN):c.777+3G>A
NM_000116.5(TAFAZZIN):c.777+6T>C rs782175712
NM_000116.5(TAFAZZIN):c.778-63_778-51del
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) rs782716787
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=) rs781792950
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His)
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) rs1603382441
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997
NM_000191.3(HMGCL):c.137dup (p.Asn46fs)
NM_000191.3(HMGCL):c.141A>G (p.Glu47=)
NM_000191.3(HMGCL):c.144+1G>A
NM_000191.3(HMGCL):c.145-4A>G
NM_000191.3(HMGCL):c.145-8C>T rs369286537
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile)
NM_000191.3(HMGCL):c.159T>A (p.Thr53=)
NM_000191.3(HMGCL):c.165G>A (p.Val55=)
NM_000191.3(HMGCL):c.168A>G (p.Lys56=)
NM_000191.3(HMGCL):c.177G>T (p.Leu59=)
NM_000191.3(HMGCL):c.183C>T (p.Asp61=)
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn) rs1570652345
NM_000191.3(HMGCL):c.21G>A (p.Ala7=)
NM_000191.3(HMGCL):c.225C>T (p.Ser75=)
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) rs538620811
NM_000191.3(HMGCL):c.24T>C (p.Leu8=)
NM_000191.3(HMGCL):c.252+10A>T
NM_000191.3(HMGCL):c.253-7T>C
NM_000191.3(HMGCL):c.27G>T (p.Pro9=)
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs)
NM_000191.3(HMGCL):c.30G>A (p.Arg10=)
NM_000191.3(HMGCL):c.324A>G (p.Pro108=)
NM_000191.3(HMGCL):c.339C>T (p.Phe113=)
NM_000191.3(HMGCL):c.33A>G (p.Arg11=)
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)
NM_000191.3(HMGCL):c.349-10A>T rs755304948
NM_000191.3(HMGCL):c.349-3C>A
NM_000191.3(HMGCL):c.349-8G>T
NM_000191.3(HMGCL):c.357T>A (p.Ala119=)
NM_000191.3(HMGCL):c.374_375del (p.Val125fs)
NM_000191.3(HMGCL):c.375C>T (p.Val125=) rs139102957
NM_000191.3(HMGCL):c.386C>G (p.Ala129Gly)
NM_000191.3(HMGCL):c.390C>T (p.Ala130=)
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308
NM_000191.3(HMGCL):c.399C>T (p.Leu133=)
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu)
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530
NM_000191.3(HMGCL):c.453C>T (p.Asp151=) rs148943423
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707
NM_000191.3(HMGCL):c.468A>G (p.Ala156=)
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val) rs147752765
NM_000191.3(HMGCL):c.471G>A (p.Ala157=) rs758118156
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230
NM_000191.3(HMGCL):c.498-10C>A rs373505626
NM_000191.3(HMGCL):c.498-7C>T
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile) rs759288306
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.558T>A (p.Ala186=)
NM_000191.3(HMGCL):c.561+8C>G
NM_000191.3(HMGCL):c.562-8T>C
NM_000191.3(HMGCL):c.564C>G (p.Val188=) rs779911061
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938
NM_000191.3(HMGCL):c.60+7G>A
NM_000191.3(HMGCL):c.60+7G>T
NM_000191.3(HMGCL):c.604C>T (p.Leu202=) rs146602259
NM_000191.3(HMGCL):c.61-17C>T rs56913973
NM_000191.3(HMGCL):c.61-1G>C
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)
NM_000191.3(HMGCL):c.621T>G (p.Gly207=)
NM_000191.3(HMGCL):c.624G>A (p.Val208=) rs747724373
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile) rs1570645382
NM_000191.3(HMGCL):c.636G>A (p.Gly212=) rs1471029861
NM_000191.3(HMGCL):c.649A>G (p.Met217Val)
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
NM_000191.3(HMGCL):c.652C>T (p.Leu218=)
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400
NM_000191.3(HMGCL):c.663C>G (p.Val221=) rs143884026
NM_000191.3(HMGCL):c.663C>T (p.Val221=) rs143884026
NM_000191.3(HMGCL):c.675G>A (p.Val225=) rs1266803426
NM_000191.3(HMGCL):c.687C>T (p.Ala229=)
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.711C>T (p.Thr237=)
NM_000191.3(HMGCL):c.717T>G (p.Gly239=) rs370708710
NM_000191.3(HMGCL):c.72A>C (p.Ser24=)
NM_000191.3(HMGCL):c.72A>G (p.Ser24=)
NM_000191.3(HMGCL):c.735C>A (p.Thr245=) rs202074025
NM_000191.3(HMGCL):c.735C>G (p.Thr245=)
NM_000191.3(HMGCL):c.736T>C (p.Leu246=)
NM_000191.3(HMGCL):c.750+8A>G
NM_000191.3(HMGCL):c.751-10_751-9del
NM_000191.3(HMGCL):c.751-3T>C
NM_000191.3(HMGCL):c.759G>A (p.Val253=) rs1570642400
NM_000191.3(HMGCL):c.762T>C (p.Ser254=)
NM_000191.3(HMGCL):c.765C>A (p.Val255=)
NM_000191.3(HMGCL):c.765C>G (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu)
NM_000191.3(HMGCL):c.795C>T (p.Gly265=)
NM_000191.3(HMGCL):c.800C>A (p.Pro267His) rs750347526
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=) rs765198174
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)
NM_000191.3(HMGCL):c.816A>T (p.Ala272=)
NM_000191.3(HMGCL):c.826T>C (p.Leu276=)
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022
NM_000191.3(HMGCL):c.843G>A (p.Leu281=)
NM_000191.3(HMGCL):c.846C>T (p.Val282=)
NM_000191.3(HMGCL):c.84T>C (p.Thr28=) rs752969194
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000191.3(HMGCL):c.858G>A (p.Glu286=) rs376715568
NM_000191.3(HMGCL):c.876+5_876+8dup
NM_000191.3(HMGCL):c.877-7C>T
NM_000191.3(HMGCL):c.882G>A (p.Val294=)
NM_000191.3(HMGCL):c.897T>A (p.Leu299=)
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu)
NM_000191.3(HMGCL):c.90A>G (p.Pro30=)
NM_000191.3(HMGCL):c.918C>T (p.Ile306=)
NM_000191.3(HMGCL):c.921T>C (p.Cys307=)
NM_000191.3(HMGCL):c.933C>T (p.Asn311=) rs1194563406
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg) rs1557484629
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)
NM_000191.3(HMGCL):c.977G>A (p.Ter326=)
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.4(MMUT):c.1084-1G>C rs879253838
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643
NM_000255.4(MMUT):c.1261G>A (p.Val421Met)
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) rs1554159871
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys) rs760718889
NM_000255.4(MMUT):c.1421G>A (p.Arg474Gln) rs368746965
NM_000255.4(MMUT):c.1429G>A (p.Ala477Thr) rs1581828004
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) rs764173488
NM_000255.4(MMUT):c.1501G>C (p.Glu501Gln)
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156
NM_000255.4(MMUT):c.1532G>A (p.Arg511Gln)
NM_000255.4(MMUT):c.1560+1G>T rs200019422
NM_000255.4(MMUT):c.1659G>A (p.Val553=)
NM_000255.4(MMUT):c.1677-1G>A rs754369323
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu)
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) rs148285323
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) rs201536536
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357
NM_000255.4(MMUT):c.1885dup (p.Arg629fs) rs1561952122
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val) rs1164271240
NM_000255.4(MMUT):c.2125-3C>G rs1581815342
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs)
NM_000255.4(MMUT):c.241T>A (p.Leu81Ile)
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) rs746274670
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418
NM_000255.4(MMUT):c.296T>C (p.Met99Thr)
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.4(MMUT):c.394C>T (p.Gln132Ter) rs1554160743
NM_000255.4(MMUT):c.395A>T (p.Gln132Leu) rs766605891
NM_000255.4(MMUT):c.622del (p.Val208fs) rs1581834906
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.647C>A (p.Thr216Asn) rs1554160650
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser) rs950211877
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) rs200596762
NM_000255.4(MMUT):c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer) rs1581834738
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys) rs2228282
NM_000255.4(MMUT):c.911G>A (p.Arg304Lys)
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
NM_000282.4(PCCA):c.1020C>T (p.Asp340=)
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter) rs398123297
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.106-10T>C
NM_000282.4(PCCA):c.106-1G>A
NM_000282.4(PCCA):c.1065+1G>C
NM_000282.4(PCCA):c.1065+3AAC[2]
NM_000282.4(PCCA):c.1065+5C>T rs201597816
NM_000282.4(PCCA):c.1066-10G>C
NM_000282.4(PCCA):c.1071G>A (p.Glu357=)
NM_000282.4(PCCA):c.1089C>T (p.Cys363=) rs766934571
NM_000282.4(PCCA):c.1099C>T (p.Leu367=)
NM_000282.4(PCCA):c.1113G>A (p.Gln371=)
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958
NM_000282.4(PCCA):c.1131T>G (p.Ala377=) rs754991015
NM_000282.4(PCCA):c.1164T>C (p.Asp388=)
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) rs138597181
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter)
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter)
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp) rs1234167788
NM_000282.4(PCCA):c.1209+10A>G
NM_000282.4(PCCA):c.1221G>A (p.Lys407=)
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.1249T>C (p.Leu417=)
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896
NM_000282.4(PCCA):c.126A>G (p.Arg42=)
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.1285-10T>C
NM_000282.4(PCCA):c.1285-12_1285-8del
NM_000282.4(PCCA):c.1285-13_1285-6del
NM_000282.4(PCCA):c.1285-4C>T rs372262089
NM_000282.4(PCCA):c.1285-5C>T
NM_000282.4(PCCA):c.1285-7dup
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
NM_000282.4(PCCA):c.12C>T (p.Phe4=)
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter)
NM_000282.4(PCCA):c.1326C>T (p.Ser442=)
NM_000282.4(PCCA):c.1342A>G (p.Met448Val) rs767060690
NM_000282.4(PCCA):c.1350A>G (p.Ser450=) rs755614638
NM_000282.4(PCCA):c.1353+10A>C rs1595236362
NM_000282.4(PCCA):c.1354-10T>C
NM_000282.4(PCCA):c.1392G>A (p.Lys464=)
NM_000282.4(PCCA):c.1408C>T (p.Leu470=) rs1566911871
NM_000282.4(PCCA):c.1419T>C (p.Tyr473=)
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.4(PCCA):c.1429+18C>T
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907
NM_000282.4(PCCA):c.1437A>G (p.Thr479=) rs1224037636
NM_000282.4(PCCA):c.1455T>C (p.Leu485=)
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921
NM_000282.4(PCCA):c.145del (p.Arg49fs)
NM_000282.4(PCCA):c.1491A>G (p.Gly497=) rs965243149
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) rs201162791
NM_000282.4(PCCA):c.1518T>C (p.Asp506=)
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
NM_000282.4(PCCA):c.1540+7A>G
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter)
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582
NM_000282.4(PCCA):c.1590A>G (p.Ser530=)
NM_000282.4(PCCA):c.1593A>G (p.Ser531=)
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs)
NM_000282.4(PCCA):c.1599T>C (p.Phe533=)
NM_000282.4(PCCA):c.1620A>G (p.Ala540=)
NM_000282.4(PCCA):c.1643+8_1643+13del
NM_000282.4(PCCA):c.1644-9C>T
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1659A>G (p.Lys553=) rs764395477
NM_000282.4(PCCA):c.1665C>T (p.Asp555=)
NM_000282.4(PCCA):c.1671C>G (p.Ala557=)
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1713C>T (p.Thr571=) rs778536273
NM_000282.4(PCCA):c.1731T>C (p.Asn577=)
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.4(PCCA):c.1747-8dup
NM_000282.4(PCCA):c.1773T>C (p.Asn591=)
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.4(PCCA):c.1791C>T (p.Asn597=)
NM_000282.4(PCCA):c.1800G>A (p.Ser600=)
NM_000282.4(PCCA):c.1800G>T (p.Ser600=)
NM_000282.4(PCCA):c.1807T>C (p.Leu603=)
NM_000282.4(PCCA):c.1818C>T (p.Ser606=)
NM_000282.4(PCCA):c.1824T>C (p.Asp608=)
NM_000282.4(PCCA):c.183+1G>A
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.183+7A>G
NM_000282.4(PCCA):c.183+9T>G
NM_000282.4(PCCA):c.184-10C>T
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.184-5T>C
NM_000282.4(PCCA):c.184-6C>T rs542777393
NM_000282.4(PCCA):c.1845+10585T>C
NM_000282.4(PCCA):c.1845+10G>T
NM_000282.4(PCCA):c.1846-1G>T
NM_000282.4(PCCA):c.1846-9G>T rs141118743
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1896A>C (p.Thr632=)
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.1899+7A>G rs950344042
NM_000282.4(PCCA):c.18C>T (p.Val6=)
NM_000282.4(PCCA):c.1915T>C (p.Leu639=)
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser) rs1594099709
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
NM_000282.4(PCCA):c.1951C>T (p.Leu651=)
NM_000282.4(PCCA):c.1962G>A (p.Val654=)
NM_000282.4(PCCA):c.1980T>C (p.Ser660=) rs751989323
NM_000282.4(PCCA):c.1988G>A (p.Arg663His)
NM_000282.4(PCCA):c.1995G>A (p.Pro665=)
NM_000282.4(PCCA):c.2001C>T (p.Pro667=) rs778845861
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2007G>C (p.Val669=)
NM_000282.4(PCCA):c.2016C>A (p.Ala672=)
NM_000282.4(PCCA):c.2016C>T (p.Ala672=) rs773033856
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931
NM_000282.4(PCCA):c.2040+9TG[3]
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.2041-2A>G rs776281864
NM_000282.4(PCCA):c.2041-8T>C
NM_000282.4(PCCA):c.2043A>G (p.Val681=)
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036
NM_000282.4(PCCA):c.2100A>G (p.Thr700=)
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
NM_000282.4(PCCA):c.2112T>C (p.Thr704=)
NM_000282.4(PCCA):c.2118+10T>C
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.2136T>C (p.Cys712=)
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.2167C>T (p.Leu723=)
NM_000282.4(PCCA):c.2169G>A (p.Leu723=) rs371113202
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000282.4(PCCA):c.231+1G>C rs972937270
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.231+8G>A rs199996461
NM_000282.4(PCCA):c.231+9_231+13del
NM_000282.4(PCCA):c.232-2A>G
NM_000282.4(PCCA):c.232-2A>T
NM_000282.4(PCCA):c.232-6A>T
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.24A>T (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs) rs999936193
NM_000282.4(PCCA):c.267A>G (p.Thr89=)
NM_000282.4(PCCA):c.273C>T (p.Ala91=)
NM_000282.4(PCCA):c.279C>T (p.His93=)
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520
NM_000282.4(PCCA):c.300+7A>G
NM_000282.4(PCCA):c.306T>C (p.His102=)
NM_000282.4(PCCA):c.327T>C (p.Ala109=)
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.33G>A (p.Leu11=)
NM_000282.4(PCCA):c.33G>T (p.Leu11=) rs922002208
NM_000282.4(PCCA):c.366C>T (p.Leu122=)
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917
NM_000282.4(PCCA):c.396G>A (p.Lys132=)
NM_000282.4(PCCA):c.414+7C>G rs1051098122
NM_000282.4(PCCA):c.415-10C>T
NM_000282.4(PCCA):c.415-9A>G rs1057520932
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.42C>G (p.Ala14=)
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)
NM_000282.4(PCCA):c.468+11A>C rs187554010
NM_000282.4(PCCA):c.468+8G>A
NM_000282.4(PCCA):c.483C>T (p.Val161=)
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612
NM_000282.4(PCCA):c.506dup (p.His169fs)
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346
NM_000282.4(PCCA):c.525C>T (p.Gly175=) rs151168308
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter)
NM_000282.4(PCCA):c.564G>A (p.Glu188=) rs1594744855
NM_000282.4(PCCA):c.567T>C (p.Val189=) rs773301690
NM_000282.4(PCCA):c.570T>C (p.Asn190=)
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala) rs766245108
NM_000282.4(PCCA):c.601-10G>A rs903647084
NM_000282.4(PCCA):c.603T>C (p.Asp201=)
NM_000282.4(PCCA):c.606A>G (p.Ala202=)
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.4(PCCA):c.637+1G>A
NM_000282.4(PCCA):c.637+2T>A
NM_000282.4(PCCA):c.638-10C>T
NM_000282.4(PCCA):c.638-5G>A
NM_000282.4(PCCA):c.638-5G>T
NM_000282.4(PCCA):c.638-7C>T
NM_000282.4(PCCA):c.645T>A (p.Pro215=)
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330
NM_000282.4(PCCA):c.69G>A (p.Gln23=) rs1593997093
NM_000282.4(PCCA):c.717-2A>G
NM_000282.4(PCCA):c.717-5dup
NM_000282.4(PCCA):c.717-8T>C
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.72G>A (p.Gln24=)
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter) rs1594992191
NM_000282.4(PCCA):c.747T>C (p.Ala249=) rs1594992384
NM_000282.4(PCCA):c.75G>T (p.Leu25=)
NM_000282.4(PCCA):c.762C>A (p.Gly254=) rs758211858
NM_000282.4(PCCA):c.780A>T (p.Ile260=)
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060
NM_000282.4(PCCA):c.819+10T>C
NM_000282.4(PCCA):c.819+9A>G rs372739944
NM_000282.4(PCCA):c.820-1G>A
NM_000282.4(PCCA):c.820-9C>T
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu) rs1595032543
NM_000282.4(PCCA):c.847T>C (p.Leu283=)
NM_000282.4(PCCA):c.849A>G (p.Leu283=)
NM_000282.4(PCCA):c.858T>C (p.Asn286=)
NM_000282.4(PCCA):c.862A>C (p.Arg288=) rs121964957
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.864A>G (p.Arg288=)
NM_000282.4(PCCA):c.866_867del (p.Glu289fs) rs760976198
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter)
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.897G>C (p.Val299=)
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln)
NM_000282.4(PCCA):c.90G>C (p.Ala30=)
NM_000282.4(PCCA):c.912A>G (p.Pro304=)
NM_000282.4(PCCA):c.914+10C>G
NM_000282.4(PCCA):c.914+19A>G rs4306370
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000282.4(PCCA):c.915-6A>G
NM_000282.4(PCCA):c.915-8A>G
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg) rs768758704
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) rs146927771
NM_000282.4(PCCA):c.930G>C (p.Ala310=)
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000282.4(PCCA):c.940A>C (p.Arg314=)
NM_000282.4(PCCA):c.942A>G (p.Arg314=)
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130
NM_000282.4(PCCA):c.94C>A (p.Arg32=)
NM_000282.4(PCCA):c.954A>G (p.Glu318=)
NM_000282.4(PCCA):c.966T>G (p.Ala322=)
NM_000282.4(PCCA):c.972C>G (p.Ala324=)
NM_000282.4(PCCA):c.972C>T (p.Ala324=)
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
NM_000282.4(PCCA):c.9G>C (p.Gly3=) rs547209141
NM_000532.5(PCCB):c.-8_12del (p.Met1fs)
NM_000532.5(PCCB):c.1002C>A (p.Pro334=)
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=)
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp)
NM_000532.5(PCCB):c.1020C>T (p.Ile340=)
NM_000532.5(PCCB):c.105dup (p.Asn36Ter)
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)
NM_000532.5(PCCB):c.1090+7T>C
NM_000532.5(PCCB):c.1091-6T>C
NM_000532.5(PCCB):c.1096T>C (p.Leu366=)
NM_000532.5(PCCB):c.1104T>C (p.Ile368=)
NM_000532.5(PCCB):c.1107T>C (p.Asn369=)
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val)
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe)
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs)
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
NM_000532.5(PCCB):c.1146T>C (p.Asp382=)
NM_000532.5(PCCB):c.1149A>T (p.Ala383=)
NM_000532.5(PCCB):c.115A>G (p.Ile39Val)
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs) rs587776758
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1194A>G (p.Leu398=)
NM_000532.5(PCCB):c.1198+1G>A
NM_000532.5(PCCB):c.1198+1_1198+11del
NM_000532.5(PCCB):c.1199-4C>T rs1361484856
NM_000532.5(PCCB):c.1199-8A>G rs886058019
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter)
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1228C>A (p.Arg410=) rs121964959
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647
NM_000532.5(PCCB):c.1242G>A (p.Lys414=)
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=)
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) rs1553784569
NM_000532.5(PCCB):c.1287C>G (p.Val429=)
NM_000532.5(PCCB):c.1293C>T (p.Thr431=)
NM_000532.5(PCCB):c.1299+9C>A rs60968242
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn)
NM_000532.5(PCCB):c.12A>G (p.Ala4=)
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514
NM_000532.5(PCCB):c.1338C>T (p.His446=)
NM_000532.5(PCCB):c.1350T>C (p.Asp450=)
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400
NM_000532.5(PCCB):c.135C>A (p.Thr45=)
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs)
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs) rs1576397633
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)
NM_000532.5(PCCB):c.1371C>T (p.Thr457=) rs140630332
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs) rs1553784721
NM_000532.5(PCCB):c.1383A>C (p.Ala461=)
NM_000532.5(PCCB):c.138G>A (p.Ala46=)
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817
NM_000532.5(PCCB):c.1398+1G>T rs794727092
NM_000532.5(PCCB):c.1398+3G>A
NM_000532.5(PCCB):c.1398+9C>T
NM_000532.5(PCCB):c.1399-10C>T
NM_000532.5(PCCB):c.1399-2_1399-1del
NM_000532.5(PCCB):c.1399-5C>T
NM_000532.5(PCCB):c.1401C>T (p.Gly467=) rs142915585
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.5(PCCB):c.142C>T (p.Leu48=) rs376983709
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs) rs1576361811
NM_000532.5(PCCB):c.144G>C (p.Leu48=)
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.1473C>T (p.Ala491=)
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser)
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu)
NM_000532.5(PCCB):c.1485T>G (p.Pro495=) rs151094095
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820
NM_000532.5(PCCB):c.1498+10T>C
NM_000532.5(PCCB):c.1498+8A>G
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
NM_000532.5(PCCB):c.1515C>T (p.Ile505=)
NM_000532.5(PCCB):c.152dup (p.Gln52fs)
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
NM_000532.5(PCCB):c.1539C>G (p.Ala513=)
NM_000532.5(PCCB):c.1539C>T (p.Ala513=)
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696
NM_000532.5(PCCB):c.1542A>C (p.Arg514=)
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
NM_000532.5(PCCB):c.1564T>C (p.Leu522=)
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly) rs1560035695
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000532.5(PCCB):c.1614A>G (p.Pro538=)
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)
NM_000532.5(PCCB):c.174G>A (p.Gln58=) rs1576397701
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870
NM_000532.5(PCCB):c.183+7C>G rs1039491317
NM_000532.5(PCCB):c.183+9T>C
NM_000532.5(PCCB):c.184-12G>T rs181283691
NM_000532.5(PCCB):c.184-7A>T
NM_000532.5(PCCB):c.184-9C>T
NM_000532.5(PCCB):c.18G>C (p.Arg6=)
NM_000532.5(PCCB):c.18G>T (p.Arg6=)
NM_000532.5(PCCB):c.216C>T (p.Leu72=)
NM_000532.5(PCCB):c.217T>C (p.Leu73=)
NM_000532.5(PCCB):c.21G>A (p.Val7=)
NM_000532.5(PCCB):c.23C>T (p.Ala8Val)
NM_000532.5(PCCB):c.246C>T (p.Ser82=)
NM_000532.5(PCCB):c.24G>T (p.Ala8=) rs1057523611
NM_000532.5(PCCB):c.27G>A (p.Ala9=)
NM_000532.5(PCCB):c.297G>A (p.Lys99=)
NM_000532.5(PCCB):c.2T>C (p.Met1Thr)
NM_000532.5(PCCB):c.303+7G>A
NM_000532.5(PCCB):c.303+8T>A rs199769617
NM_000532.5(PCCB):c.304-4G>T
NM_000532.5(PCCB):c.304-5G>C
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu)
NM_000532.5(PCCB):c.30C>A (p.Val10=)
NM_000532.5(PCCB):c.30C>T (p.Val10=)
NM_000532.5(PCCB):c.318C>T (p.Ser106=) rs767388070
NM_000532.5(PCCB):c.321G>C (p.Val107=)
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328
NM_000532.5(PCCB):c.360T>C (p.Tyr120=)
NM_000532.5(PCCB):c.371del (p.Gln124fs)
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.384T>G (p.Val128=)
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter) rs398123463
NM_000532.5(PCCB):c.387T>C (p.Phe129=)
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)
NM_000532.5(PCCB):c.3G>A (p.Met1Ile) rs398123464
NM_000532.5(PCCB):c.414C>G (p.Ala138=)
NM_000532.5(PCCB):c.414C>T (p.Ala138=)
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs)
NM_000532.5(PCCB):c.429+7G>A rs201986472
NM_000532.5(PCCB):c.429+8T>C
NM_000532.5(PCCB):c.42C>T (p.Leu14=)
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)
NM_000532.5(PCCB):c.450G>A (p.Thr150=)
NM_000532.5(PCCB):c.459T>A (p.Ala153=)
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) rs1559998737
NM_000532.5(PCCB):c.46G>T (p.Val16Phe) rs780842004
NM_000532.5(PCCB):c.474G>A (p.Leu158=)
NM_000532.5(PCCB):c.480C>T (p.Asp160=)
NM_000532.5(PCCB):c.483T>G (p.Ser161=) rs751200837
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) rs1304714042
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000532.5(PCCB):c.49C>T (p.Leu17=)
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter)
NM_000532.5(PCCB):c.507A>C (p.Gly169=)
NM_000532.5(PCCB):c.510G>A (p.Val170=)
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289
NM_000532.5(PCCB):c.544-10G>A
NM_000532.5(PCCB):c.544-4G>A
NM_000532.5(PCCB):c.544-5G>C rs372351800
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg)
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997
NM_000532.5(PCCB):c.594C>G (p.Gly198=)
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999
NM_000532.5(PCCB):c.597A>C (p.Pro199=)
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter)
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198
NM_000532.5(PCCB):c.612C>T (p.Ala204=)
NM_000532.5(PCCB):c.613G>A (p.Val205Ile)
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe) rs1553777582
NM_000532.5(PCCB):c.627C>T (p.Ala209=)
NM_000532.5(PCCB):c.630A>C (p.Leu210=)
NM_000532.5(PCCB):c.630A>G (p.Leu210=) rs1269554950
NM_000532.5(PCCB):c.638del (p.Phe213fs) rs1196443543
NM_000532.5(PCCB):c.642G>A (p.Thr214=)
NM_000532.5(PCCB):c.642G>T (p.Thr214=)
NM_000532.5(PCCB):c.645C>T (p.Phe215=)
NM_000532.5(PCCB):c.654+20T>C rs3821445
NM_000532.5(PCCB):c.654+3A>C rs199886085
NM_000532.5(PCCB):c.654+462A>G rs1576327011
NM_000532.5(PCCB):c.655-2A>G rs796052020
NM_000532.5(PCCB):c.660C>T (p.Thr220=)
NM_000532.5(PCCB):c.663C>T (p.Ser221=)
NM_000532.5(PCCB):c.667C>T (p.Leu223=)
NM_000532.5(PCCB):c.66C>G (p.Arg22=) rs759836996
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.5(PCCB):c.6G>A (p.Ala2=)
NM_000532.5(PCCB):c.723G>A (p.Gln241=) rs751695055
NM_000532.5(PCCB):c.72G>T (p.Ala24=)
NM_000532.5(PCCB):c.732C>T (p.Leu244=)
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del) rs1553778892
NM_000532.5(PCCB):c.737G>T (p.Gly246Val)
NM_000532.5(PCCB):c.741C>T (p.Ala247=) rs191115697
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile)
NM_000532.5(PCCB):c.747C>T (p.Thr249=) rs746448544
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
NM_000532.5(PCCB):c.75C>T (p.Val25=)
NM_000532.5(PCCB):c.763+10C>G rs180982841
NM_000532.5(PCCB):c.763+8G>A
NM_000532.5(PCCB):c.763+8G>C
NM_000532.5(PCCB):c.764-10G>C
NM_000532.5(PCCB):c.764-5C>A
NM_000532.5(PCCB):c.76dup (p.Arg26fs)
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209
NM_000532.5(PCCB):c.774C>T (p.His258=)
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly) rs1560017781
NM_000532.5(PCCB):c.801C>T (p.Ala267=)
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000532.5(PCCB):c.816G>C (p.Arg272=)
NM_000532.5(PCCB):c.818A>T (p.Asp273Val)
NM_000532.5(PCCB):c.825dup (p.Asn276fs) rs748393514
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691
NM_000532.5(PCCB):c.838dup (p.Leu280fs) rs769968548
NM_000532.5(PCCB):c.852C>T (p.Asp284=)
NM_000532.5(PCCB):c.855G>A (p.Pro285=) rs982512877
NM_000532.5(PCCB):c.861C>A (p.Pro287=)
NM_000532.5(PCCB):c.861C>T (p.Pro287=)
NM_000532.5(PCCB):c.862G>C (p.Val288Leu) rs201984177
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
NM_000532.5(PCCB):c.876C>T (p.His292=) rs776893713
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_000532.5(PCCB):c.884+10A>G
NM_000532.5(PCCB):c.885-4A>C rs535943678
NM_000532.5(PCCB):c.885-7C>T rs1427637783
NM_000532.5(PCCB):c.888C>T (p.Asp296=)
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_000532.5(PCCB):c.906T>G (p.Leu302=)
NM_000532.5(PCCB):c.909C>T (p.Asp303=)
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201
NM_000532.5(PCCB):c.912A>G (p.Thr304=)
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp)
NM_000532.5(PCCB):c.933C>G (p.Thr311=)
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp)
NM_000532.5(PCCB):c.963C>T (p.His321=)
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe)
NM_000532.5(PCCB):c.966+9C>T
NM_000532.5(PCCB):c.96C>T (p.Ala32=)
NM_000532.5(PCCB):c.975T>C (p.Asp325=) rs746146640
NM_000532.5(PCCB):c.978G>A (p.Glu326=)
NM_000532.5(PCCB):c.988T>G (p.Phe330Val) rs748708704
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406
NM_001017989.3(OPA3):c.406T>C (p.Leu136=)
NM_001017989.3(OPA3):c.414G>A (p.Ala138=) rs566450630
NM_001017989.3(OPA3):c.416A>T (p.Gln139Leu) rs201888844
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs) rs1599947052
NM_001017989.3(OPA3):c.534C>T (p.Ser178=) rs1162879805
NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=)
NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=)
NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=)
NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=)
NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=)
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)
NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=)
NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=)
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)
NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=)
NM_001243279.3(ACSF3):c.1092G>C (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=)
NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=) rs148716626
NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=)
NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=)
NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=) rs201792144
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met)
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=)
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)
NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=)
NM_001243279.3(ACSF3):c.1126+10C>T
NM_001243279.3(ACSF3):c.1126+1G>A
NM_001243279.3(ACSF3):c.1126+4C>T rs73254029
NM_001243279.3(ACSF3):c.1127-4G>A
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960
NM_001243279.3(ACSF3):c.1127-7C>A
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953
NM_001243279.3(ACSF3):c.1127-9C>T
NM_001243279.3(ACSF3):c.1131C>A (p.Ser377=) rs138395741
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=) rs138395741
NM_001243279.3(ACSF3):c.1134G>A (p.Val378=) rs141088268
NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=)
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=) rs768148002
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=) rs34972688
NM_001243279.3(ACSF3):c.1212C>T (p.His404=)
NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr) rs189568082
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=)
NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=)
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val) rs545886514
NM_001243279.3(ACSF3):c.1233G>A (p.Gly411=)
NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=)
NM_001243279.3(ACSF3):c.1239+8A>T
NM_001243279.3(ACSF3):c.1239+9C>G rs376238513
NM_001243279.3(ACSF3):c.123C>T (p.Asp41=)
NM_001243279.3(ACSF3):c.1240-8C>T rs1598040505
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747
NM_001243279.3(ACSF3):c.1251G>A (p.Gly417=)
NM_001243279.3(ACSF3):c.1257A>G (p.Glu419=)
NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=) rs150322170
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)
NM_001243279.3(ACSF3):c.1293C>T (p.Ser431=)
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)
NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=)
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828
NM_001243279.3(ACSF3):c.12T>C (p.His4=)
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter) rs766764090
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)
NM_001243279.3(ACSF3):c.132C>T (p.Ala44=)
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=)
NM_001243279.3(ACSF3):c.1359T>C (p.Phe453=)
NM_001243279.3(ACSF3):c.135G>C (p.Pro45=)
NM_001243279.3(ACSF3):c.1366+8C>T
NM_001243279.3(ACSF3):c.1366+9C>T
NM_001243279.3(ACSF3):c.1367-13C>G rs140859425
NM_001243279.3(ACSF3):c.1367-36_1367-7del
NM_001243279.3(ACSF3):c.1367-4T>A
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336
NM_001243279.3(ACSF3):c.1368G>A (p.Gly456=)
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=) rs761654873
NM_001243279.3(ACSF3):c.1380G>T (p.Val460=)
NM_001243279.3(ACSF3):c.138G>A (p.Val46=) rs1597887201
NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=)
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg) rs200971130
NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=)
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs)
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) rs1064793662
NM_001243279.3(ACSF3):c.1449G>A (p.Lys483=)
NM_001243279.3(ACSF3):c.1455C>T (p.Ser485=)
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)
NM_001243279.3(ACSF3):c.1467G>A (p.Val489=)
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=) rs115776284
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370
NM_001243279.3(ACSF3):c.1476C>T (p.His492=) rs1348371629
NM_001243279.3(ACSF3):c.147T>A (p.Arg49=)
NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=)
NM_001243279.3(ACSF3):c.1501+10C>T
NM_001243279.3(ACSF3):c.1502-10C>T
NM_001243279.3(ACSF3):c.1502-11_1502-9del
NM_001243279.3(ACSF3):c.1502-18C>G rs759372180
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659
NM_001243279.3(ACSF3):c.1502-5C>T rs577763495
NM_001243279.3(ACSF3):c.1502-8A>G
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=)
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118
NM_001243279.3(ACSF3):c.156C>T (p.Ala52=) rs746564011
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)
NM_001243279.3(ACSF3):c.1581A>G (p.Ser527=)
NM_001243279.3(ACSF3):c.1587C>G (p.Ser529=)
NM_001243279.3(ACSF3):c.1587C>T (p.Ser529=)
NM_001243279.3(ACSF3):c.1596G>A (p.Glu532=)
NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs)
NM_001243279.3(ACSF3):c.1605G>A (p.Glu535=)
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387
NM_001243279.3(ACSF3):c.1613+9G>T
NM_001243279.3(ACSF3):c.1614-10G>C rs370941606
NM_001243279.3(ACSF3):c.1614-6C>T rs368789945
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=)
NM_001243279.3(ACSF3):c.1623_1624insCAGAT (p.Ala542fs)
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=) rs146779456
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs)
NM_001243279.3(ACSF3):c.1632C>T (p.Tyr544=)
NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=) rs1597281839
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=)
NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=)
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659
NM_001243279.3(ACSF3):c.1710C>T (p.Ile570=)
NM_001243279.3(ACSF3):c.171C>T (p.Ile57=)
NM_001243279.3(ACSF3):c.1722C>T (p.His574=)
NM_001243279.3(ACSF3):c.1728A>G (p.Ser576=)
NM_001243279.3(ACSF3):c.1730G>A (p.Ter577=)
NM_001243279.3(ACSF3):c.186_196dup (p.His66fs)
NM_001243279.3(ACSF3):c.189C>T (p.His63=)
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=)
NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=)
NM_001243279.3(ACSF3):c.219C>A (p.Ser73=)
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)
NM_001243279.3(ACSF3):c.258C>T (p.Cys86=) rs560101290
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)
NM_001243279.3(ACSF3):c.267C>T (p.Val89=) rs746883692
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter)
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=) rs59213357
NM_001243279.3(ACSF3):c.305del (p.Cys102fs) rs760759040
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) rs6500526
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=) rs749994320
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) rs145969050
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=) rs7193255
NM_001243279.3(ACSF3):c.321C>T (p.Ser107=)
NM_001243279.3(ACSF3):c.327C>T (p.Val109=) rs141517318
NM_001243279.3(ACSF3):c.333C>T (p.Ala111=)
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=)
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter) rs757905943
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=) rs6500528
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) rs182147718
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser) rs200703917
NM_001243279.3(ACSF3):c.369C>A (p.Val123=) rs6500529
NM_001243279.3(ACSF3):c.369C>G (p.Val123=)
NM_001243279.3(ACSF3):c.384G>A (p.Lys128=)
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=) rs368192538
NM_001243279.3(ACSF3):c.393G>A (p.Ala131=)
NM_001243279.3(ACSF3):c.399G>A (p.Gln133=)
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)
NM_001243279.3(ACSF3):c.411C>T (p.Val137=) rs148969539
NM_001243279.3(ACSF3):c.417C>T (p.Cys139=) rs775755554
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=) rs756300619
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe) rs774006659
NM_001243279.3(ACSF3):c.435G>A (p.Val145=)
NM_001243279.3(ACSF3):c.438C>T (p.Val146=) rs1381436509
NM_001243279.3(ACSF3):c.444C>T (p.Ala148=)
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter) rs752338222
NM_001243279.3(ACSF3):c.45C>G (p.Ala15=) rs771481057
NM_001243279.3(ACSF3):c.474G>A (p.Pro158=)
NM_001243279.3(ACSF3):c.474G>T (p.Pro158=)
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065
NM_001243279.3(ACSF3):c.486G>A (p.Lys162=)
NM_001243279.3(ACSF3):c.498G>A (p.Pro166=)
NM_001243279.3(ACSF3):c.498G>T (p.Pro166=)
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro) rs11547019
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=)
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) rs377732201
NM_001243279.3(ACSF3):c.51G>A (p.Ala17=)
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.51G>T (p.Ala17=)
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)
NM_001243279.3(ACSF3):c.540G>A (p.Glu180=)
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=)
NM_001243279.3(ACSF3):c.555C>G (p.Val185=)
NM_001243279.3(ACSF3):c.555C>T (p.Val185=)
NM_001243279.3(ACSF3):c.558G>A (p.Pro186=)
NM_001243279.3(ACSF3):c.561C>T (p.Val187=)
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.585G>A (p.Lys195=)
NM_001243279.3(ACSF3):c.588C>T (p.Gly196=) rs373441358
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro) rs7188200
NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met) rs147597284
NM_001243279.3(ACSF3):c.60G>A (p.Arg20=)
NM_001243279.3(ACSF3):c.618G>T (p.Thr206=) rs753012038
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507
NM_001243279.3(ACSF3):c.643_647del (p.Thr215fs)
NM_001243279.3(ACSF3):c.645G>A (p.Thr215=) rs772996642
NM_001243279.3(ACSF3):c.645G>C (p.Thr215=)
NM_001243279.3(ACSF3):c.663T>C (p.Ala221=)
NM_001243279.3(ACSF3):c.666+10G>A
NM_001243279.3(ACSF3):c.666+9C>T rs767663198
NM_001243279.3(ACSF3):c.667-12C>T rs72817437
NM_001243279.3(ACSF3):c.667-13T>C rs139367843
NM_001243279.3(ACSF3):c.667-7C>T
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=)
NM_001243279.3(ACSF3):c.66G>T (p.Ala22=)
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081
NM_001243279.3(ACSF3):c.675del (p.Leu226fs) rs1597898076
NM_001243279.3(ACSF3):c.678G>A (p.Leu226=)
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp) rs1597898108
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) rs145583876
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=) rs766852572
NM_001243279.3(ACSF3):c.708C>T (p.Asp236=) rs550622194
NM_001243279.3(ACSF3):c.720C>T (p.His240=) rs778493922
NM_001243279.3(ACSF3):c.723G>A (p.Val241=) rs1597898369
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=)
NM_001243279.3(ACSF3):c.729G>T (p.Pro243=)
NM_001243279.3(ACSF3):c.72G>A (p.Ala24=)
NM_001243279.3(ACSF3):c.738C>T (p.His246=) rs112722289
NM_001243279.3(ACSF3):c.741C>A (p.Val247=)
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=) rs147718091
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)
NM_001243279.3(ACSF3):c.759G>A (p.Ala253=) rs765643653
NM_001243279.3(ACSF3):c.759G>T (p.Ala253=)
NM_001243279.3(ACSF3):c.75A>G (p.Arg25=)
NM_001243279.3(ACSF3):c.760C>T (p.Leu254=) rs764919377
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)
NM_001243279.3(ACSF3):c.786C>A (p.Ala262=)
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)
NM_001243279.3(ACSF3):c.816T>G (p.Pro272=)
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)
NM_001243279.3(ACSF3):c.822+10G>C
NM_001243279.3(ACSF3):c.823-4G>A
NM_001243279.3(ACSF3):c.823-4G>C rs558325262
NM_001243279.3(ACSF3):c.823-5C>T rs192714121
NM_001243279.3(ACSF3):c.823-8C>G
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter) rs570233664
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
NM_001243279.3(ACSF3):c.846T>C (p.Ser282=)
NM_001243279.3(ACSF3):c.852G>A (p.Thr284=) rs183159791
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=) rs780294227
NM_001243279.3(ACSF3):c.867C>T (p.Val289=)
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)
NM_001243279.3(ACSF3):c.894C>G (p.Thr298=)
NM_001243279.3(ACSF3):c.900G>A (p.Leu300=)
NM_001243279.3(ACSF3):c.918G>A (p.Arg306=)
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) rs150686471
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269
NM_001243279.3(ACSF3):c.957A>C (p.Ala319=)
NM_001243279.3(ACSF3):c.957A>G (p.Ala319=)
NM_001243279.3(ACSF3):c.978-1G>A
NM_001243279.3(ACSF3):c.978-4G>A
NM_001243279.3(ACSF3):c.978-5C>T rs767914459
NM_001243279.3(ACSF3):c.978-6G>A rs377217672
NM_001243279.3(ACSF3):c.978-6G>T
NM_001243279.3(ACSF3):c.978-7C>T rs190927208
NM_001243279.3(ACSF3):c.990A>G (p.Ser330=)
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=) rs75591977
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) rs765777645
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=)
NM_001258392.3(CLPB):c.105G>T (p.Arg35=)
NM_001258392.3(CLPB):c.1122+16T>C rs187846751
NM_001258392.3(CLPB):c.1123-3C>T
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=) rs200950385
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=)
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys)
NM_001258392.3(CLPB):c.114T>C (p.Thr38=) rs1590948323
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460
NM_001258392.3(CLPB):c.1164C>T (p.His388=) rs202009794
NM_001258392.3(CLPB):c.1167+5G>T rs1565424666
NM_001258392.3(CLPB):c.1167+6T>C
NM_001258392.3(CLPB):c.1168-9T>C rs979851122
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val)
NM_001258392.3(CLPB):c.1218T>C (p.Gly406=) rs200323616
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) rs116118397
NM_001258392.3(CLPB):c.1287C>T (p.Ala429=) rs143482511
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu) rs746582120
NM_001258392.3(CLPB):c.1293dup (p.Asp432fs)
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=) rs146721061
NM_001258392.3(CLPB):c.135G>T (p.Pro45=) rs534420559
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=)
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr) rs372344202
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=)
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn) rs778269139
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly)
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=)
NM_001258392.3(CLPB):c.1425C>T (p.His475=) rs756497518
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=)
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val)
NM_001258392.3(CLPB):c.144G>A (p.Leu48=) rs557250186
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys)
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=)
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys) rs369380599
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His)
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys)
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) rs1555085159
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=) rs139236388
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys) rs779812366
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=)
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg)
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile)
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu)
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193
NM_001258392.3(CLPB):c.1542G>A (p.Val514=) rs935570035
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys) rs748289105
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val)
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp) rs200299650
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln) rs576652298
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys) rs1590753263
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=) rs752634197
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=)
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile)
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser)
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=) rs200970392
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp)
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=)
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr)
NM_001258392.3(CLPB):c.1680+6A>C
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=) rs199965220
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=) rs141458508
NM_001258392.3(CLPB):c.1710C>T (p.Leu570=) rs140958543
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)
NM_001258392.3(CLPB):c.1740C>T (p.Val580=) rs759628306
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=) rs147296630
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser)
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln)
NM_001258392.3(CLPB):c.1786-3C>T rs372126133
NM_001258392.3(CLPB):c.1786-6C>T rs191389918
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys)
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His) rs149463053
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val)
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val)
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His) rs137882645
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) rs137882645
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) rs35401939
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=) rs140281600
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu)
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=)
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=) rs138717332
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg)
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter)
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr) rs144777839
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=)
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His)
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln)
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=) rs894319387
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe)
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp)
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu)
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala) rs146099754
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg) rs758376345
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser)
NM_001258392.3(CLPB):c.246C>T (p.Cys82=)
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe) rs1590947700
NM_001258392.3(CLPB):c.249C>T (p.Leu83=) rs200845330
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val)
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile) rs1424542665
NM_001258392.3(CLPB):c.261T>C (p.Thr87=) rs1427118335
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala)
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr)
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly)
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser) rs549191970
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser) rs150248137
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly)
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) rs1565107812
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe) rs139361195
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg)
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val)
NM_001258392.3(CLPB):c.393G>A (p.Pro131=)
NM_001258392.3(CLPB):c.39G>A (p.Ala13=)
NM_001258392.3(CLPB):c.403+7_403+8del rs754849241
NM_001258392.3(CLPB):c.404-16C>T rs371250603
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) rs146895312
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs)
NM_001258392.3(CLPB):c.450C>A (p.Val150=)
NM_001258392.3(CLPB):c.455+8G>C rs200993434
NM_001258392.3(CLPB):c.465A>G (p.Ser155=) rs138171096
NM_001258392.3(CLPB):c.51C>A (p.Leu17=) rs371869002
NM_001258392.3(CLPB):c.528C>A (p.Ile176=)
NM_001258392.3(CLPB):c.531C>T (p.Asn177=) rs771786059
NM_001258392.3(CLPB):c.546G>A (p.Val182=)
NM_001258392.3(CLPB):c.555C>T (p.Val185=)
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln)
NM_001258392.3(CLPB):c.57G>C (p.Arg19=) rs112362953
NM_001258392.3(CLPB):c.582C>T (p.Asn194=)
NM_001258392.3(CLPB):c.58C>T (p.Leu20=)
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu) rs146588273
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys)
NM_001258392.3(CLPB):c.646+6T>C rs374982363
NM_001258392.3(CLPB):c.646+7273G>C
NM_001258392.3(CLPB):c.646+7280C>T rs759358526
NM_001258392.3(CLPB):c.646+7281G>A rs150552809
NM_001258392.3(CLPB):c.646+7288G>A rs143097446
NM_001258392.3(CLPB):c.646+7290C>T
NM_001258392.3(CLPB):c.646+7291G>A rs770932848
NM_001258392.3(CLPB):c.646+7295C>A
NM_001258392.3(CLPB):c.646+7310G>A
NM_001258392.3(CLPB):c.646+7323G>T rs374473067
NM_001258392.3(CLPB):c.646+7335T>C rs746357833
NM_001258392.3(CLPB):c.646+7355C>T
NM_001258392.3(CLPB):c.646+7358T>C rs201350869
NM_001258392.3(CLPB):c.646+7371C>T
NM_001258392.3(CLPB):c.646+7G>A
NM_001258392.3(CLPB):c.647-6C>T rs1377454533
NM_001258392.3(CLPB):c.651G>C (p.Leu217=)
NM_001258392.3(CLPB):c.663G>A (p.Glu221=) rs571326442
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met) rs1284671735
NM_001258392.3(CLPB):c.690C>T (p.Asn230=) rs200517382
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr)
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001258392.3(CLPB):c.723C>T (p.His241=) rs368930954
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys) rs777313457
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu)
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly) rs146762466
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys)
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala)
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu)
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg)
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro) rs1555098495
NM_001258392.3(CLPB):c.771T>C (p.Asp257=)
NM_001258392.3(CLPB):c.776-10C>A
NM_001258392.3(CLPB):c.776-10C>G rs141271919
NM_001258392.3(CLPB):c.776-10_776-8del
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu)
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) rs7938203
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val)
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg)
NM_001258392.3(CLPB):c.817T>C (p.Leu273=)
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe) rs368150943
NM_001258392.3(CLPB):c.837G>A (p.Gly279=)
NM_001258392.3(CLPB):c.840A>G (p.Glu280=) rs36049191
NM_001258392.3(CLPB):c.844A>G (p.Met282Val) rs773028492
NM_001258392.3(CLPB):c.849G>A (p.Lys283=)
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) rs148534573
NM_001258392.3(CLPB):c.896G>A (p.Arg299His)
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro)
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp)
NM_001258392.3(CLPB):c.914G>A (p.Arg305His)
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys)
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln)
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val) rs1590786067
NM_001258392.3(CLPB):c.966C>T (p.Ser322=) rs371562971
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp) rs1565433670
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly)
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val) rs144942416
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) rs146912721
NM_001330174.2(ACADSB):c.-139T>G rs149562178
NM_001330174.2(ACADSB):c.-30A>G rs1375520384
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter) rs1601803431
NM_001352514.2(HLCS):c.1032C>A (p.Leu344=)
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=)
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=) rs73196003
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe) rs1569216588
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) rs773102942
NM_001352514.2(HLCS):c.1101T>C (p.Ala367=)
NM_001352514.2(HLCS):c.1119C>G (p.Pro373=)
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=) rs768927843
NM_001352514.2(HLCS):c.1122A>G (p.Glu374=)
NM_001352514.2(HLCS):c.1126C>T (p.Leu376=)
NM_001352514.2(HLCS):c.1128G>A (p.Leu376=)
NM_001352514.2(HLCS):c.1140C>T (p.Phe380=)
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) rs119103227
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter)
NM_001352514.2(HLCS):c.1164G>A (p.Gly388=)
NM_001352514.2(HLCS):c.1179G>A (p.Leu393=)
NM_001352514.2(HLCS):c.1185A>G (p.Ser395=)
NM_001352514.2(HLCS):c.1185A>T (p.Ser395=)
NM_001352514.2(HLCS):c.1188C>T (p.Ser396=)
NM_001352514.2(HLCS):c.1194C>T (p.Thr398=) rs149877080
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1227A>C (p.Ala409=) rs776771975
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
NM_001352514.2(HLCS):c.1242C>G (p.Val414=)
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=) rs535891229
NM_001352514.2(HLCS):c.1260C>T (p.Ser420=)
NM_001352514.2(HLCS):c.1266T>C (p.Ala422=)
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968
NM_001352514.2(HLCS):c.1290C>T (p.Ser430=) rs1472760580
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile) rs376903098
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=)
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=)
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=) rs143393390
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly) rs778061862
NM_001352514.2(HLCS):c.1330C>A (p.Arg444=)
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp) rs139902499
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669
NM_001352514.2(HLCS):c.1332G>C (p.Arg444=)
NM_001352514.2(HLCS):c.1341C>T (p.Pro447=)
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser) rs200886053
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser) rs142621386
NM_001352514.2(HLCS):c.1356C>T (p.Gly452=)
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
NM_001352514.2(HLCS):c.1371G>A (p.Glu457=)
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu) rs144705277
NM_001352514.2(HLCS):c.1395T>C (p.His465=)
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501
NM_001352514.2(HLCS):c.1413C>A (p.Arg471=)
NM_001352514.2(HLCS):c.1413C>T (p.Arg471=) rs533602689
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=) rs189674085
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter) rs1601779091
NM_001352514.2(HLCS):c.1500C>A (p.Leu500=) rs200631719
NM_001352514.2(HLCS):c.1524C>T (p.Tyr508=)
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1552del (p.Gly519fs)
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1596T>G (p.Pro532=)
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) rs111603166
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-12T>C rs367728041
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.1621-9A>G rs374646852
NM_001352514.2(HLCS):c.1627A>C (p.Arg543=)
NM_001352514.2(HLCS):c.1629G>A (p.Arg543=)
NM_001352514.2(HLCS):c.1632T>C (p.Asp544=)
NM_001352514.2(HLCS):c.1635T>G (p.Pro545=)
NM_001352514.2(HLCS):c.1644G>A (p.Gln548=)
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=) rs771923409
NM_001352514.2(HLCS):c.1668C>T (p.Ser556=)
NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys)
NM_001352514.2(HLCS):c.1683A>G (p.Lys561=)
NM_001352514.2(HLCS):c.1686C>G (p.Ser562=) rs141905941
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330
NM_001352514.2(HLCS):c.1698T>G (p.Ser566=)
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
NM_001352514.2(HLCS):c.1773G>A (p.Glu591=)
NM_001352514.2(HLCS):c.1797C>T (p.Asn599=)
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
NM_001352514.2(HLCS):c.1851G>A (p.Leu617=)
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.1857C>T (p.Ala619=)
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=) rs776800808
NM_001352514.2(HLCS):c.1893-6C>T rs139904712
NM_001352514.2(HLCS):c.1908A>T (p.Thr636=)
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
NM_001352514.2(HLCS):c.1911G>A (p.Pro637=)
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val) rs772156741
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
NM_001352514.2(HLCS):c.1923C>T (p.Gly641=)
NM_001352514.2(HLCS):c.1935C>T (p.Ile645=)
NM_001352514.2(HLCS):c.1938G>A (p.Ala646=) rs370347318
NM_001352514.2(HLCS):c.1938G>C (p.Ala646=)
NM_001352514.2(HLCS):c.1947G>A (p.Gln649=)
NM_001352514.2(HLCS):c.1950C>G (p.Thr650=)
NM_001352514.2(HLCS):c.1950C>T (p.Thr650=) rs201813658
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.1960+16T>A rs73398135
NM_001352514.2(HLCS):c.1960+5G>A rs753887925
NM_001352514.2(HLCS):c.1961-7G>C rs145472697
NM_001352514.2(HLCS):c.1962A>G (p.Gly654=) rs757169763
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946
NM_001352514.2(HLCS):c.1989T>C (p.Pro663=) rs1601141038
NM_001352514.2(HLCS):c.2034A>G (p.Arg678=)
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr) rs777373322
NM_001352514.2(HLCS):c.2041C>T (p.Leu681=)
NM_001352514.2(HLCS):c.2073G>A (p.Leu691=)
NM_001352514.2(HLCS):c.2088C>T (p.Val696=) rs150794567
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2112C>G (p.Pro704=) rs762221640
NM_001352514.2(HLCS):c.2112C>T (p.Pro704=)
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001352514.2(HLCS):c.2121+10G>A
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807
NM_001352514.2(HLCS):c.2121+8C>A
NM_001352514.2(HLCS):c.2121+8C>T
NM_001352514.2(HLCS):c.2130C>T (p.Asn710=)
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln) rs769446135
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.2181C>A (p.Ile727=)
NM_001352514.2(HLCS):c.2181C>T (p.Ile727=) rs375456567
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230
NM_001352514.2(HLCS):c.2184C>T (p.Gly728=)
NM_001352514.2(HLCS):c.2196T>A (p.Val732=)
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
NM_001352514.2(HLCS):c.2205A>C (p.Thr735=)
NM_001352514.2(HLCS):c.2208C>G (p.Leu736=)
NM_001352514.2(HLCS):c.2237-56_2255del
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met) rs1555882115
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg) rs1601100788
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=) rs138387445
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
NM_001352514.2(HLCS):c.2313C>T (p.His771=)
NM_001352514.2(HLCS):c.2331C>T (p.Pro777=)
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val) rs199517800
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
NM_001352514.2(HLCS):c.2346T>C (p.Tyr782=)
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
NM_001352514.2(HLCS):c.2388A>G (p.Lys796=)
NM_001352514.2(HLCS):c.2397G>A (p.Gln799=)
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=) rs370117126
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997
NM_001352514.2(HLCS):c.2418C>G (p.Val806=)
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) rs759416272
NM_001352514.2(HLCS):c.2421T>C (p.Leu807=)
NM_001352514.2(HLCS):c.2424C>G (p.Pro808=)
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211
NM_001352514.2(HLCS):c.2450+1_2450+2del
NM_001352514.2(HLCS):c.2450+7G>C
NM_001352514.2(HLCS):c.2451-19C>T rs78671947
NM_001352514.2(HLCS):c.2451-8C>G rs373177254
NM_001352514.2(HLCS):c.2463C>A (p.Val821=)
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
NM_001352514.2(HLCS):c.2467C>T (p.Leu823=)
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=) rs199936080
NM_001352514.2(HLCS):c.2511C>T (p.Asp837=)
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn)
NM_001352514.2(HLCS):c.2526C>G (p.Leu842=)
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=) rs147256659
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=) rs142437842
NM_001352514.2(HLCS):c.2547C>G (p.Gly849=)
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=) rs202028605
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.2622A>G (p.Ter874=)
NM_001352514.2(HLCS):c.456C>A (p.Leu152=)
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile) rs183589811
NM_001352514.2(HLCS):c.493+10T>C rs1601811088
NM_001352514.2(HLCS):c.494-13A>G rs76785742
NM_001352514.2(HLCS):c.494-7G>C
NM_001352514.2(HLCS):c.494-8T>C
NM_001352514.2(HLCS):c.494-9A>G rs376397597
NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
NM_001352514.2(HLCS):c.504G>A (p.Leu168=)
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)
NM_001352514.2(HLCS):c.513C>T (p.Ser171=)
NM_001352514.2(HLCS):c.516T>C (p.Thr172=)
NM_001352514.2(HLCS):c.519G>C (p.Leu173=) rs142669894
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter)
NM_001352514.2(HLCS):c.540C>T (p.Val180=)
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
NM_001352514.2(HLCS):c.570G>A (p.Pro190=)
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
NM_001352514.2(HLCS):c.600T>C (p.Pro200=)
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) rs796051977
NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp)
NM_001352514.2(HLCS):c.681C>T (p.Ala227=)
NM_001352514.2(HLCS):c.687G>C (p.Gly229=)
NM_001352514.2(HLCS):c.689G>A (p.Ser230Asn)
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter) rs1569218416
NM_001352514.2(HLCS):c.696T>C (p.Pro232=) rs200877859
NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn)
NM_001352514.2(HLCS):c.711C>T (p.Asp237=)
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) rs886057077
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502
NM_001352514.2(HLCS):c.741C>T (p.His247=)
NM_001352514.2(HLCS):c.744C>G (p.Leu248=)
NM_001352514.2(HLCS):c.759C>T (p.Cys253=)
NM_001352514.2(HLCS):c.762C>T (p.His254=)
NM_001352514.2(HLCS):c.792T>C (p.Ile264=)
NM_001352514.2(HLCS):c.804G>A (p.Lys268=)
NM_001352514.2(HLCS):c.810G>A (p.Ala270=)
NM_001352514.2(HLCS):c.816C>T (p.Ala272=) rs376665169
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867
NM_001352514.2(HLCS):c.885C>T (p.Pro295=)
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097
NM_001352514.2(HLCS):c.915G>A (p.Thr305=)
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985
NM_001352514.2(HLCS):c.942T>C (p.Tyr314=)
NM_001352514.2(HLCS):c.945G>T (p.Val315=)
NM_001352514.2(HLCS):c.951C>G (p.Ser317=)
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001352514.2(HLCS):c.981C>T (p.His327=) rs773664058
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
NM_001352514.2(HLCS):c.996G>A (p.Val332=)
NM_001352514.2(HLCS):c.997C>T (p.Leu333=)
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.-17+2T>C
NM_001370658.1(BTD):c.-17+7A>C
NM_001370658.1(BTD):c.-18del
NM_001370658.1(BTD):c.-22G>A
NM_001370658.1(BTD):c.-28C>T
NM_001370658.1(BTD):c.-38G>A
NM_001370658.1(BTD):c.-46T>C
NM_001370658.1(BTD):c.1002G>A (p.Thr334=) rs148764524
NM_001370658.1(BTD):c.1014T>C (p.His338=)
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) rs747548016
NM_001370658.1(BTD):c.1026A>G (p.Leu342=)
NM_001370658.1(BTD):c.1041C>A (p.Gly347=)
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)
NM_001370658.1(BTD):c.1086G>A (p.Glu362=)
NM_001370658.1(BTD):c.1092C>T (p.Thr364=)
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.1101C>T (p.Asn367=)
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del)
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1158C>A (p.Val386=)
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1170A>C (p.Gly390=)
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1182T>C (p.Tyr394=)
NM_001370658.1(BTD):c.1188C>T (p.His396=)
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410
NM_001370658.1(BTD):c.1203C>T (p.Gly401=)
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.1236C>T (p.Thr412=)
NM_001370658.1(BTD):c.123C>T (p.Ala41=)
NM_001370658.1(BTD):c.1248G>A (p.Glu416=)
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170
NM_001370658.1(BTD):c.1251G>C (p.Leu417=)
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile) rs776369447
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) rs397514436
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)
NM_001370658.1(BTD):c.1344C>T (p.Phe448=)
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001370658.1(BTD):c.1362A>G (p.Glu454=)
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter) rs1559600871
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1419C>G (p.Ser473=)
NM_001370658.1(BTD):c.1419del (p.Tyr474fs) rs1559600938
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911
NM_001370658.1(BTD):c.1433dup (p.Leu478fs) rs397514425
NM_001370658.1(BTD):c.1438C>T (p.Leu480=)
NM_001370658.1(BTD):c.1446A>G (p.Ser482=)
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)
NM_001370658.1(BTD):c.1456C>T (p.Leu486=) rs774018881
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)
NM_001370658.1(BTD):c.1528C>G (p.Leu510Val)
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.1536G>A (p.Thr512=) rs774052068
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe) rs771537277
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu) rs397514429
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)
NM_001370658.1(BTD):c.183G>A (p.Glu61=)
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780
NM_001370658.1(BTD):c.204G>A (p.Gln68=)
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.225G>A (p.Gln75=)
NM_001370658.1(BTD):c.249+5G>T
NM_001370658.1(BTD):c.252T>C (p.Asp84=)
NM_001370658.1(BTD):c.255A>C (p.Val85=)
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala) rs1553653070
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.282del (p.Ile95fs)
NM_001370658.1(BTD):c.288T>C (p.His96=)
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.345C>T (p.Pro115=)
NM_001370658.1(BTD):c.357G>A (p.Arg119=)
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.399+8del
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.39C>T (p.Cys13=) rs201564216
NM_001370658.1(BTD):c.400-4C>T
NM_001370658.1(BTD):c.400-6C>T
NM_001370658.1(BTD):c.400-8T>C
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592
NM_001370658.1(BTD):c.411C>T (p.Arg137=)
NM_001370658.1(BTD):c.417T>C (p.Ser139=)
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe) rs745343884
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.429C>T (p.Ile143=)
NM_001370658.1(BTD):c.430A>C (p.Arg144=)
NM_001370658.1(BTD):c.435A>T (p.Gly145=)
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly) rs541012569
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.522C>T (p.Phe174=)
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.525C>T (p.Asn175=)
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139
NM_001370658.1(BTD):c.56_59dup (p.Gly21fs)
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.600A>G (p.Ala200=)
NM_001370658.1(BTD):c.603C>T (p.Phe201=)
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.645C>A (p.Pro215=)
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala) rs144901367
NM_001370658.1(BTD):c.669C>T (p.Phe223=)
NM_001370658.1(BTD):c.672A>G (p.Thr224=)
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_001370658.1(BTD):c.723C>T (p.Tyr241=)
NM_001370658.1(BTD):c.729G>A (p.Val243=)
NM_001370658.1(BTD):c.72C>T (p.Thr24=)
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.741G>A (p.Val247=)
NM_001370658.1(BTD):c.743dup (p.Tyr248Ter)
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387
NM_001370658.1(BTD):c.789G>A (p.Glu263=)
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg) rs762757117
NM_001370658.1(BTD):c.81G>A (p.Glu27=)
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001370658.1(BTD):c.825C>T (p.Asn275=)
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001370658.1(BTD):c.843C>A (p.Val281=)
NM_001370658.1(BTD):c.852A>G (p.Pro284=)
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057
NM_001370658.1(BTD):c.894G>A (p.Glu298=)
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001370658.1(BTD):c.972C>T (p.Leu324=)
NM_001370658.1(BTD):c.978T>G (p.Gly326=)
NM_001370658.1(BTD):c.992del (p.Thr331fs) rs397514398
NM_001370658.1(BTD):c.997G>A (p.Glu333Lys)
NM_001372123.1(IKZF5):c.-280C>T
NM_001609.3(ACADSB):c.1014C>T (p.His338=) rs57339164
NM_001609.3(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.3(ACADSB):c.1145C>T (p.Thr382Met) rs772084235
NM_001609.3(ACADSB):c.1154G>A (p.Cys385Tyr) rs1370215763
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1165A>G (p.Met389Val) rs201877440
NM_001609.3(ACADSB):c.1168G>A (p.Gly390Arg) rs764095189
NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001609.3(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593
NM_001609.3(ACADSB):c.168A>G (p.Thr56=) rs34221067
NM_001609.3(ACADSB):c.260C>T (p.Ser87Leu) rs745481903
NM_001609.3(ACADSB):c.334G>A (p.Gly112Arg) rs1564751382
NM_001609.3(ACADSB):c.370G>C (p.Val124Leu) rs375217368
NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) rs12263012
NM_001609.3(ACADSB):c.42G>A (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.3(ACADSB):c.639C>T (p.His213=) rs1140591
NM_001609.3(ACADSB):c.655G>A (p.Val219Met) rs553730391
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) rs57321698
NM_001609.3(ACADSB):c.946A>G (p.Ile316Val) rs1131430
NM_001609.3(ACADSB):c.958A>T (p.Ile320Leu) rs1554873785
NM_001609.4(ACADSB):c.1014C>G (p.His338Gln)
NM_001609.4(ACADSB):c.1015G>A (p.Val339Met)
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr)
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=) rs145295182
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
NM_001609.4(ACADSB):c.1128+1G>A
NM_001609.4(ACADSB):c.1128+1_1128+3del
NM_001609.4(ACADSB):c.1128+2dup
NM_001609.4(ACADSB):c.1138C>G (p.Gln380Glu)
NM_001609.4(ACADSB):c.1228+20_1228+21del rs11307362
NM_001609.4(ACADSB):c.1228+21del rs11307362
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)
NM_001609.4(ACADSB):c.159C>T (p.Pro53=)
NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu)
NM_001609.4(ACADSB):c.303+1G>A rs147936696
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) rs756587384
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys) rs140747102
NM_001609.4(ACADSB):c.511-6A>G
NM_001609.4(ACADSB):c.555A>G (p.Ser185=)
NM_001609.4(ACADSB):c.653dup (p.Val219fs)
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
NM_001609.4(ACADSB):c.726G>A (p.Pro242=) rs148114788
NM_001609.4(ACADSB):c.757T>C (p.Leu253=)
NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys)
NM_001609.4(ACADSB):c.807+10G>A
NM_001609.4(ACADSB):c.915G>A (p.Ala305=)
NM_001609.4(ACADSB):c.960A>T (p.Ile320=) rs147531541
NM_001698.2(AUH):c.135G>A (p.Ala45=) rs774989333
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.20C>T (p.Ala7Val) rs863223911
NM_001698.2(AUH):c.304T>A (p.Ser102Thr) rs1554721818
NM_001698.2(AUH):c.331-6G>A rs10991898
NM_001698.2(AUH):c.374G>A (p.Arg125Gln) rs137939308
NM_001698.2(AUH):c.483A>C (p.Ile161=) rs7874056
NM_001698.2(AUH):c.589C>T (p.Arg197Ter) rs121434636
NM_001698.2(AUH):c.598+10A>C rs186203318
NM_001698.2(AUH):c.599-2A>G rs1587799880
NM_001698.2(AUH):c.657G>A (p.Gly219=) rs141110052
NM_001698.2(AUH):c.678C>T (p.Arg226=) rs143768042
NM_001698.2(AUH):c.713T>C (p.Phe238Ser) rs1587621572
NM_001698.2(AUH):c.719C>T (p.Ala240Val) rs769894315
NM_001698.2(AUH):c.730G>A (p.Asp244Asn) rs202182817
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_001698.2(AUH):c.791G>A (p.Gly264Glu) rs376821113
NM_001698.2(AUH):c.807G>A (p.Arg269=) rs145208407
NM_001698.2(AUH):c.927A>G (p.Glu309=) rs78739693
NM_001698.2(AUH):c.936T>C (p.Tyr312=) rs139628387
NM_001698.2(AUH):c.942+4dup rs1554688047
NM_001698.2(AUH):c.991A>T (p.Lys331Ter) rs387906757
NM_001698.3(AUH):c.117G>C (p.Ser39=) rs759828827
NM_001698.3(AUH):c.197G>T (p.Gly66Val)
NM_001698.3(AUH):c.197del (p.Gly66fs)
NM_001698.3(AUH):c.198C>T (p.Gly66=) rs1268067238
NM_001698.3(AUH):c.323T>C (p.Ile108Thr)
NM_001698.3(AUH):c.331-8C>T
NM_001698.3(AUH):c.381A>G rs146227896
NM_001698.3(AUH):c.385A>T (p.Ile129Phe)
NM_001698.3(AUH):c.40T>C (p.Ser14Pro)
NM_001698.3(AUH):c.464G>C (p.Gly155Ala)
NM_001698.3(AUH):c.578C>T (p.Ala193Val)
NM_001698.3(AUH):c.584A>C (p.Asp195Ala)
NM_001698.3(AUH):c.623T>C (p.Val208Ala)
NM_001698.3(AUH):c.655+7G>A
NM_001698.3(AUH):c.656-2_656-1del
NM_001698.3(AUH):c.656-2del
NM_001698.3(AUH):c.722G>A (p.Arg241Gln)
NM_001698.3(AUH):c.864G>A (p.Val288=)
NM_001698.3(AUH):c.898G>A (p.Asp300Asn)
NM_001698.3(AUH):c.909A>C (p.Thr303=) rs779607746
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528
NM_002225.5(IVD):c.1005G>A (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1005G>C (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp) rs776608445
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln) rs139908696
NM_002225.5(IVD):c.1023C>T (p.Tyr341=)
NM_002225.5(IVD):c.1026T>C (p.Asn342=)
NM_002225.5(IVD):c.1029C>T (p.Val343=)
NM_002225.5(IVD):c.102C>G (p.Pro34=)
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.1041C>T (p.Cys347=)
NM_002225.5(IVD):c.1059T>C (p.Thr353=)
NM_002225.5(IVD):c.1066-10C>T rs774472099
NM_002225.5(IVD):c.1066-5C>T rs115077254
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1071_1072del (p.Ala358fs)
NM_002225.5(IVD):c.1095T>C (p.Ala365=) rs1595790601
NM_002225.5(IVD):c.1112T>C (p.Val371Ala) rs754600862
NM_002225.5(IVD):c.111T>C (p.Asp37=)
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn) rs1566941619
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)
NM_002225.5(IVD):c.1138+1G>A
NM_002225.5(IVD):c.1138+9T>G
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg)
NM_002225.5(IVD):c.1139-8G>C rs755640305
NM_002225.5(IVD):c.1139-9T>C
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012
NM_002225.5(IVD):c.11C>T (p.Ala4Val) rs148189323
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682
NM_002225.5(IVD):c.1215G>A (p.Gly405=)
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838
NM_002225.5(IVD):c.123G>C (p.Gly41=) rs139179135
NM_002225.5(IVD):c.1242C>T (p.Ile414=)
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser) rs150855952
NM_002225.5(IVD):c.133G>A (p.Glu45Lys)
NM_002225.5(IVD):c.144+10C>G
NM_002225.5(IVD):c.144+1G>A rs928991928
NM_002225.5(IVD):c.144+7A>C rs1595750832
NM_002225.5(IVD):c.144+8G>A rs1248918125
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985
NM_002225.5(IVD):c.156C>G (p.Thr52=)
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.174G>A (p.Gln58=)
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
NM_002225.5(IVD):c.195C>T (p.Ala65=)
NM_002225.5(IVD):c.199G>T (p.Glu67Ter)
NM_002225.5(IVD):c.219G>A (p.Glu73=)
NM_002225.5(IVD):c.225G>A (p.Lys75=)
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686
NM_002225.5(IVD):c.229C>T (p.Leu77=) rs143807229
NM_002225.5(IVD):c.22C>T (p.Leu8=) rs773816252
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.234+10del
NM_002225.5(IVD):c.234+14T>C rs2289331
NM_002225.5(IVD):c.234+9G>A rs369931477
NM_002225.5(IVD):c.235-18G>A rs78272986
NM_002225.5(IVD):c.235-8G>A
NM_002225.5(IVD):c.243G>A (p.Trp81Ter) rs540375168
NM_002225.5(IVD):c.252G>A (p.Leu84=)
NM_002225.5(IVD):c.264C>A (p.Gly88=)
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313
NM_002225.5(IVD):c.268T>A (p.Leu90Met) rs780854004
NM_002225.5(IVD):c.286+2T>C rs748026507
NM_002225.5(IVD):c.286+8T>C rs769702849
NM_002225.5(IVD):c.287-1G>A rs1398838997
NM_002225.5(IVD):c.287-2A>C
NM_002225.5(IVD):c.294T>C (p.Tyr98=)
NM_002225.5(IVD):c.297C>T (p.Gly99=)
NM_002225.5(IVD):c.303C>T (p.Ser101=) rs749482459
NM_002225.5(IVD):c.306C>A (p.Gly102=)
NM_002225.5(IVD):c.307C>G (p.Leu103Val)
NM_002225.5(IVD):c.321G>A (p.Glu107=)
NM_002225.5(IVD):c.330G>A (p.Leu110=)
NM_002225.5(IVD):c.33T>C (p.Arg11=)
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412
NM_002225.5(IVD):c.357C>T (p.Ser119=)
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835
NM_002225.5(IVD):c.360A>G (p.Gly120=)
NM_002225.5(IVD):c.372C>T (p.Leu124=)
NM_002225.5(IVD):c.378C>T (p.Tyr126=)
NM_002225.5(IVD):c.381T>C (p.Gly127=)
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174
NM_002225.5(IVD):c.384C>A (p.Ala128=)
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.453G>A (p.Pro151=)
NM_002225.5(IVD):c.456+22_510delinsGTTG rs1555403942
NM_002225.5(IVD):c.456+2T>C rs398123683
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117
NM_002225.5(IVD):c.457-2A>T
NM_002225.5(IVD):c.457-3_457-2delinsGG rs786204427
NM_002225.5(IVD):c.457-4G>A
NM_002225.5(IVD):c.457-7C>T
NM_002225.5(IVD):c.457-9T>C rs1418302146
NM_002225.5(IVD):c.459G>C (p.Leu153=)
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
NM_002225.5(IVD):c.474C>T (p.Tyr158=)
NM_002225.5(IVD):c.477C>T (p.Ile159=)
NM_002225.5(IVD):c.483C>T (p.Ala161=)
NM_002225.5(IVD):c.486G>A (p.Leu162=)
NM_002225.5(IVD):c.490A>G (p.Met164Val)
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684
NM_002225.5(IVD):c.504T>C (p.Asn168=)
NM_002225.5(IVD):c.513T>C (p.Ser171=)
NM_002225.5(IVD):c.521T>G (p.Val174Gly)
NM_002225.5(IVD):c.52C>T (p.Arg18Trp)
NM_002225.5(IVD):c.534C>A (p.Leu178=) rs775318094
NM_002225.5(IVD):c.540G>A (p.Ala180=) rs775944806
NM_002225.5(IVD):c.550+10C>T
NM_002225.5(IVD):c.550+1G>A rs377147994
NM_002225.5(IVD):c.550+6G>A
NM_002225.5(IVD):c.551-18C>T rs142064071
NM_002225.5(IVD):c.576C>T (p.Asn192=)
NM_002225.5(IVD):c.588C>T (p.Ile196=)
NM_002225.5(IVD):c.597C>T (p.Gly199=)
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.609C>T (p.Asp203=)
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.61_67del (p.Leu21fs)
NM_002225.5(IVD):c.639G>C (p.Leu213=)
NM_002225.5(IVD):c.642T>G (p.Ala214=)
NM_002225.5(IVD):c.666C>T (p.Ile222=)
NM_002225.5(IVD):c.678T>G (p.Ile226Met)
NM_002225.5(IVD):c.687+7_687+16del
NM_002225.5(IVD):c.690T>C (p.Gly230=) rs1182189552
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563
NM_002225.5(IVD):c.710C>T (p.Ser237Phe)
NM_002225.5(IVD):c.720G>A (p.Leu240=)
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312
NM_002225.5(IVD):c.72C>T (p.Phe24=) rs1403443551
NM_002225.5(IVD):c.750C>T (p.Thr250=)
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574
NM_002225.5(IVD):c.816T>C (p.Gly272=)
NM_002225.5(IVD):c.81G>A (p.Gln27=)
NM_002225.5(IVD):c.822C>T (p.Tyr274=) rs375580399
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986
NM_002225.5(IVD):c.837G>A (p.Gly279=) rs754853734
NM_002225.5(IVD):c.840G>A (p.Leu280=)
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.864C>T (p.Ala288=) rs1566939786
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
NM_002225.5(IVD):c.865G>T (p.Gly289Trp)
NM_002225.5(IVD):c.870G>A (p.Gly290=)
NM_002225.5(IVD):c.870del (p.Pro291fs)
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.879-5G>A rs750569823
NM_002225.5(IVD):c.87C>G (p.Ala29=)
NM_002225.5(IVD):c.87C>T (p.Ala29=) rs751297903
NM_002225.5(IVD):c.881T>C (p.Leu294Pro) rs1555404933
NM_002225.5(IVD):c.887A>T (p.Gln296Leu) rs1595786862
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_002225.5(IVD):c.891G>T (p.Ala297=)
NM_002225.5(IVD):c.895C>G (p.Leu299Val)
NM_002225.5(IVD):c.903C>T (p.His301=) rs759116078
NM_002225.5(IVD):c.912C>T (p.Pro304=)
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134
NM_002225.5(IVD):c.921C>T (p.His307=)
NM_002225.5(IVD):c.930A>G (p.Glu310=)
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889
NM_002225.5(IVD):c.948C>T (p.Ile316=) rs754100750
NM_002225.5(IVD):c.954C>T (p.His318=)
NM_002225.5(IVD):c.957C>T (p.Phe319=)
NM_002225.5(IVD):c.960+7C>T
NM_002225.5(IVD):c.960+8G>A
NM_002225.5(IVD):c.961-2A>T
NM_002225.5(IVD):c.961-6G>A rs199783007
NM_002225.5(IVD):c.961T>C (p.Leu321=) rs146011049
NM_002225.5(IVD):c.967C>G (p.Gln323Glu)
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys)
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=) rs35522023
NM_005050.4(ABCD4):c.1028+5G>A
NM_005050.4(ABCD4):c.1028+6G>T rs115783644
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp) rs147795328
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln) rs147100216
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met)
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=) rs542032495
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=) rs377583331
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=)
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro) rs139863822
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801
NM_005050.4(ABCD4):c.1118+9C>T rs370581068
NM_005050.4(ABCD4):c.1136C>T (p.Ala379Val)
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=) rs145155300
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)
NM_005050.4(ABCD4):c.1294del (p.Arg432fs)
NM_005050.4(ABCD4):c.12G>C (p.Ala4=)
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=) rs11845976
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser)
NM_005050.4(ABCD4):c.1317G>A (p.Thr439=)
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)
NM_005050.4(ABCD4):c.1327+8C>T rs199678602
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg)
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser) rs1594861158
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg)
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe) rs147446660
NM_005050.4(ABCD4):c.1422G>T (p.Val474=)
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His)
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585
NM_005050.4(ABCD4):c.1495T>C (p.Leu499=) rs561519173
NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr)
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=) rs57773157
NM_005050.4(ABCD4):c.1559+7_1559+11del
NM_005050.4(ABCD4):c.1560-12A>C rs74061802
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=) rs555792734
NM_005050.4(ABCD4):c.158-7C>A rs557930358
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter) rs767795583
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)
NM_005050.4(ABCD4):c.1636+10C>T rs74061801
NM_005050.4(ABCD4):c.1637-10G>A rs201148020
NM_005050.4(ABCD4):c.166G>A (p.Val56Met)
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg) rs138753274
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=)
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=) rs141766346
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344
NM_005050.4(ABCD4):c.1752+2T>C rs151116417
NM_005050.4(ABCD4):c.1752+5C>T rs370270229
NM_005050.4(ABCD4):c.1752+7G>A rs376322555
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609
NM_005050.4(ABCD4):c.249A>G (p.Thr83=) rs773214307
NM_005050.4(ABCD4):c.24C>G (p.Pro8=)
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr) rs371774856
NM_005050.4(ABCD4):c.360C>T (p.His120=)
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe) rs141808601
NM_005050.4(ABCD4):c.374G>A (p.Arg125Gln)
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp) rs145141432
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)
NM_005050.4(ABCD4):c.425+7G>A rs375608814
NM_005050.4(ABCD4):c.447C>T (p.Asp149=)
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp)
NM_005050.4(ABCD4):c.492C>G (p.Leu164=) rs36031534
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu) rs747354548
NM_005050.4(ABCD4):c.504G>A (p.Pro168=)
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys) rs188205145
NM_005050.4(ABCD4):c.542+1G>T rs769364566
NM_005050.4(ABCD4):c.555C>T (p.Leu185=) rs188108983
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly) rs183607306
NM_005050.4(ABCD4):c.57A>G (p.Gln19=) rs574817590
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val)
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)
NM_005050.4(ABCD4):c.668+7C>T rs61757464
NM_005050.4(ABCD4):c.669-11_669-8del rs373949463
NM_005050.4(ABCD4):c.669-13T>G rs144451801
NM_005050.4(ABCD4):c.669-6G>T rs115029507
NM_005050.4(ABCD4):c.699G>A (p.Ala233=)
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr)
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117
NM_005050.4(ABCD4):c.752G>A (p.Arg251His) rs139315421
NM_005050.4(ABCD4):c.775A>T (p.Thr259Ser) rs201664321
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp)
NM_005050.4(ABCD4):c.815-13G>C rs74063815
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn)
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=) rs1052000
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly)
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met)
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=)
NM_005334.3(HCFC1):c.1085-12G>A rs3027893
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=)
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met)
NM_005334.3(HCFC1):c.138G>C (p.Val46=)
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=)
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) rs782364666
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=)
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=) rs202099968
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) rs199916332
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) rs377463848
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=)
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151
NM_005334.3(HCFC1):c.2475C>T (p.His825=)
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=) rs1603296223
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) rs369241538
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) rs200053475
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=)
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) rs782558280
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=)
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) rs374223163
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) rs782349400
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=)
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=) rs1557114580
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) rs200997332
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=) rs200145247
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) rs190844812
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) rs375223452
NM_005334.3(HCFC1):c.3249C>T (p.His1083=)
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=) rs782099695
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=)
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) rs1259347673
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) rs782473277
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His) rs201578135
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala)
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) rs372301724
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) rs781949446
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=) rs781889604
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=)
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=)
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) rs1557113656
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) rs782410390
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile)
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) rs1004412459
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=) rs782660801
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) rs782771916
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) rs782566624
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) rs781802693
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) rs781804858
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=)
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu)
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=)
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) rs368279501
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) rs782660181
NM_005334.3(HCFC1):c.477C>T (p.Ser159=)
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val)
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=) rs782313635
NM_005334.3(HCFC1):c.4942+8C>T
NM_005334.3(HCFC1):c.503+14C>G rs371163886
NM_005334.3(HCFC1):c.504-9C>T rs781961920
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=)
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=)
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512
NM_005334.3(HCFC1):c.5379+20G>A
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) rs782769309
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) rs201452496
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg)
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala)
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) rs376294666
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=)
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=) rs377138805
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=)
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=)
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=)
NM_005334.3(HCFC1):c.712+6C>T
NM_005334.3(HCFC1):c.713-13C>T rs59607260
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)
NM_005334.3(HCFC1):c.905-3C>T rs200367055
NM_014362.4(HIBCH):c.1038T>A (p.Val346=) rs13406709
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=) rs1575690645
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met) rs1575690635
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala) rs1058180
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) rs757976755
NM_014362.4(HIBCH):c.214C>T (p.Leu72=) rs149479887
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln) rs200185893
NM_014362.4(HIBCH):c.243T>G (p.Thr81=) rs144074606
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr) rs291466
NM_014362.4(HIBCH):c.35+10A>C rs747167987
NM_014362.4(HIBCH):c.385+11del rs374891270
NM_014362.4(HIBCH):c.438+9A>T rs201813923
NM_014362.4(HIBCH):c.439-2A>G
NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser) rs74832989
NM_014362.4(HIBCH):c.517+15T>A rs291417
NM_014362.4(HIBCH):c.609del (p.Gly204fs) rs776592661
NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp) rs61752508
NM_014362.4(HIBCH):c.79-7T>C rs201950316
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr) rs201049927
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn) rs144053672
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.957A>G (p.Ser319=) rs3213841
NM_014384.2(ACAD8):c.1000C>T (p.Arg334Cys) rs778823613
NM_014384.2(ACAD8):c.1004A>G (p.Asn335Ser) rs768954546
NM_014384.2(ACAD8):c.110-9T>C rs371550147
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_014384.2(ACAD8):c.1195+12C>T rs75333832
NM_014384.2(ACAD8):c.1233C>T (p.Ser411=) rs146145710
NM_014384.2(ACAD8):c.133C>T (p.Gln45Ter) rs1591505809
NM_014384.2(ACAD8):c.20G>C (p.Arg7Pro) rs35181923
NM_014384.2(ACAD8):c.210+6C>T rs148089913
NM_014384.2(ACAD8):c.211-4A>G rs517424
NM_014384.2(ACAD8):c.233T>C (p.Met78Thr) rs767613745
NM_014384.2(ACAD8):c.250C>G (p.Leu84Val) rs1330918776
NM_014384.2(ACAD8):c.275A>G (p.Gln92Arg) rs886048022
NM_014384.2(ACAD8):c.292T>C (p.Ser98Pro) rs773978651
NM_014384.2(ACAD8):c.293C>T (p.Ser98Phe) rs948304437
NM_014384.2(ACAD8):c.2T>C (p.Met1Thr) rs767041100
NM_014384.2(ACAD8):c.308T>G (p.Leu103Arg) rs763906092
NM_014384.2(ACAD8):c.337G>A (p.Ala113Thr) rs751633406
NM_014384.2(ACAD8):c.380+7G>T rs1335335796
NM_014384.2(ACAD8):c.384G>A (p.Met128Ile) rs374317179
NM_014384.2(ACAD8):c.409G>A (p.Gly137Arg) rs371449613
NM_014384.2(ACAD8):c.455T>C (p.Met152Thr) rs121908418
NM_014384.2(ACAD8):c.466G>T (p.Ala156Ser) rs201273972
NM_014384.2(ACAD8):c.481A>G (p.Thr161Ala) rs186756646
NM_014384.2(ACAD8):c.512C>G (p.Ser171Cys) rs113488591
NM_014384.2(ACAD8):c.643A>G (p.Ile215Val) rs151125742
NM_014384.2(ACAD8):c.730C>T (p.Arg244Ter) rs746960051
NM_014384.2(ACAD8):c.734C>T (p.Ala245Val) rs780609527
NM_014384.2(ACAD8):c.784G>A (p.Glu262Lys) rs368653287
NM_014384.2(ACAD8):c.841+7T>C rs77368661
NM_014384.2(ACAD8):c.841+9C>T rs777635296
NM_014384.2(ACAD8):c.842-8C>G rs201188279
NM_014384.2(ACAD8):c.905G>C (p.Arg302Pro) rs121908422
NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) rs200620279
NM_014384.2(ACAD8):c.965T>C (p.Met322Thr) rs577976129
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420
NM_014384.3(ACAD8):c.1036G>A (p.Asp346Asn)
NM_014384.3(ACAD8):c.1084T>C (p.Cys362Arg)
NM_014384.3(ACAD8):c.1092+1G>C
NM_014384.3(ACAD8):c.1092+3_1092+6del rs780925587
NM_014384.3(ACAD8):c.110-6C>T
NM_014384.3(ACAD8):c.1128C>T (p.Tyr376=)
NM_014384.3(ACAD8):c.1133A>C (p.Tyr378Ser)
NM_014384.3(ACAD8):c.1154A>G (p.Gln385Arg)
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)
NM_014384.3(ACAD8):c.1193A>G (p.Glu398Gly)
NM_014384.3(ACAD8):c.1196-4_1196-2del
NM_014384.3(ACAD8):c.243A>C (p.Ala81=) rs1591506881
NM_014384.3(ACAD8):c.27C>T (p.Phe9=)
NM_014384.3(ACAD8):c.290G>A (p.Gly97Glu)
NM_014384.3(ACAD8):c.340A>G (p.Thr114Ala)
NM_014384.3(ACAD8):c.348C>A (p.Cys116Ter)
NM_014384.3(ACAD8):c.408C>T (p.Phe136=) rs143408080
NM_014384.3(ACAD8):c.444G>T (p.Pro148=) rs572820646
NM_014384.3(ACAD8):c.527C>G (p.Ala176Gly)
NM_014384.3(ACAD8):c.538G>C (p.Gly180Arg)
NM_014384.3(ACAD8):c.557A>G (p.Asn186Ser)
NM_014384.3(ACAD8):c.615C>T (p.Cys205=)
NM_014384.3(ACAD8):c.621A>G (p.Thr207=) rs1315587870
NM_014384.3(ACAD8):c.64G>T (p.Val22Phe)
NM_014384.3(ACAD8):c.794G>C (p.Gly265Ala)
NM_014384.3(ACAD8):c.801C>T (p.Leu267=) rs36115758
NM_014384.3(ACAD8):c.804T>C (p.Ile268=)
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val)
NM_014384.3(ACAD8):c.822C>A (p.Asn274Lys)
NM_014384.3(ACAD8):c.842-18G>A
NM_014384.3(ACAD8):c.849C>G (p.Cys283Trp)
NM_014384.3(ACAD8):c.867C>G (p.His289Gln)
NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln)
NM_014384.3(ACAD8):c.948A>G (p.Gln316=)
NM_014384.3(ACAD8):c.989G>A (p.Arg330Gln)
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.3(MMACHC):c.114C>T (p.Ala38=) rs372262322
NM_015506.3(MMACHC):c.122del (p.Leu41fs)
NM_015506.3(MMACHC):c.123dup (p.Pro42fs)
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314
NM_015506.3(MMACHC):c.141C>G (p.Thr47=)
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)
NM_015506.3(MMACHC):c.147C>T (p.Ala49=) rs1570829648
NM_015506.3(MMACHC):c.156A>G (p.Val52=)
NM_015506.3(MMACHC):c.159C>T (p.Leu53=)
NM_015506.3(MMACHC):c.165G>A (p.Thr55=) rs369883781
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272
NM_015506.3(MMACHC):c.180C>T (p.Asp60=)
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
NM_015506.3(MMACHC):c.199T>C (p.Leu67=) rs1272042617
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536
NM_015506.3(MMACHC):c.213C>T (p.His71=)
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995
NM_015506.3(MMACHC):c.231C>T (p.Asp77=)
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=)
NM_015506.3(MMACHC):c.258T>C (p.His86=)
NM_015506.3(MMACHC):c.270T>G (p.Val90=)
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.277-4C>G rs199889403
NM_015506.3(MMACHC):c.282C>T (p.Leu94=) rs751229877
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=) rs528744719
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu) rs747214324
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254
NM_015506.3(MMACHC):c.33G>A (p.Lys11=) rs770446383
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)
NM_015506.3(MMACHC):c.369A>T (p.Val123=)
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn) rs563710045
NM_015506.3(MMACHC):c.414C>T (p.Asp138=)
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.3(MMACHC):c.423G>A (p.Gly141=)
NM_015506.3(MMACHC):c.423G>C (p.Gly141=) rs1035201847
NM_015506.3(MMACHC):c.429+1G>C
NM_015506.3(MMACHC):c.42C>T (p.Asp14=)
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470
NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys)
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln) rs200276195
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) rs1002571805
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386
NM_015506.3(MMACHC):c.477C>T (p.Ala159=) rs747698015
NM_015506.3(MMACHC):c.481C>A (p.Arg161=) rs370596113
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala) rs1570832855
NM_015506.3(MMACHC):c.48A>G (p.Leu16=)
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs)
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018
NM_015506.3(MMACHC):c.495G>C (p.Leu165=)
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)