ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2242
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HGVS dbSNP
GRCh37/hg19 3q28(chr3:190039387-190040504)
MPLKIP, EX1-2DEL
NC_000003.11:g.(?_4403818)_(4459826_?)del
NC_000003.11:g.(?_4403818)_(4494743_?)del
NC_000003.11:g.(?_4490940)_(4494743_?)del
NC_000003.11:g.(?_4508657_4508905del
NC_000003.12:g.(?_4362124)_(4467265_?)del
NC_000003.12:g.(?_4362134)_(4362264_?)del
NC_000003.12:g.(?_4362134)_(4376399_?)del
NC_000003.12:g.(?_4410855)_(4420156_?)del
NC_000003.12:g.(?_4410855)_(4467255_?)del
NC_000003.12:g.(?_4449256)_(4467255_?)del
NC_000003.12:g.(?_4452866)_(4453059_?)del
NC_000003.12:g.(?_4452866)_(4467255_?)del
NC_000005.10:g.(?_148086385)_(148116486_?)dup
NC_000005.10:g.(?_148136963)_(148137011_?)del
NC_000005.9:g.(?_147443360)_(147484583_?)del
NC_000005.9:g.147443360G>A
NC_000006.11:g.(?_137166776_137167549del
NC_000006.11:g.(?_137187755)_(137193401_?)del
NC_000006.11:g.(?_137187765)_(137191141_?)dup
NC_000006.12:g.(?_136821564)_(136914934_?)dup
NC_000009.11:g.(?_131707946)_(131709602_?)dup
NC_000009.12:g.(?_128945677)_(128947313_?)dup
NC_000009.12:g.128947638C>G
NC_000022.10:g.29758984_29815476del
NC_000022.11:g.(?_21213348)_(21242174_?)del
NM_000122.1(ERCC3):c.355A>C (p.Thr119Pro) rs121913046
NM_000122.1(ERCC3):c.359C>T (p.Ala120Val) rs370115857
NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) rs145201970
NM_000122.2(ERCC3):c.417C>T (p.Tyr139=) rs529637184
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1049A>G (p.His350Arg) rs78198234
NM_000157.4(GBA):c.1090G>A (p.Gly364Arg) rs121908305
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000157.4(GBA):c.115+1G>A rs104886460
NM_000157.4(GBA):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA):c.1289C>T (p.Pro430Leu)
NM_000157.4(GBA):c.1297G>T (p.Val433Leu) rs80356769
NM_000157.4(GBA):c.1309G>T (p.Val437Phe) rs121908310
NM_000157.4(GBA):c.1316G>A (p.Ser439Asn) rs1571966221
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.1389-33del
NM_000157.4(GBA):c.145G>A (p.Gly49Ser)
NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) rs80356771
NM_000157.4(GBA):c.1506-1G>A rs1571964338
NM_000157.4(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000157.4(GBA):c.34C>T (p.Pro12Ser)
NM_000157.4(GBA):c.476G>A (p.Arg159Gln) rs79653797
NM_000157.4(GBA):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.4(GBA):c.533del (p.Pro178fs) rs397518434
NM_000157.4(GBA):c.703T>C (p.Ser235Pro) rs1064644
NM_000157.4(GBA):c.870C>A (p.Phe290Leu) rs121908313
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000157.4(GBA):c.887G>A (p.Arg296Gln) rs78973108
NM_000288.3(PEX7):c.-77T>C rs1321472
NM_000288.3(PEX7):c.-88T>C rs886061115
NM_000288.3(PEX7):c.-91G>A rs772358439
NM_000288.4(PEX7):c.*115A>G
NM_000288.4(PEX7):c.*124A>G
NM_000288.4(PEX7):c.*223T>A
NM_000288.4(PEX7):c.*257_*258insAGT rs1801001
NM_000288.4(PEX7):c.*272A>G rs186705952
NM_000288.4(PEX7):c.*305C>A rs567568009
NM_000288.4(PEX7):c.*305C>T rs567568009
NM_000288.4(PEX7):c.*305_*310del rs886061123
NM_000288.4(PEX7):c.*306T>G rs1050803
NM_000288.4(PEX7):c.*367T>C rs886061124
NM_000288.4(PEX7):c.*38G>A rs41288965
NM_000288.4(PEX7):c.-18C>T
NM_000288.4(PEX7):c.-28G>A rs376808803
NM_000288.4(PEX7):c.-31G>A rs115866467
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-45C>T rs267608252
NM_000288.4(PEX7):c.-56C>T rs73777751
NM_000288.4(PEX7):c.-65A>T
NM_000288.4(PEX7):c.-69C>A
NM_000288.4(PEX7):c.111G>A (p.Ala37=)
NM_000288.4(PEX7):c.112C>T (p.Gln38Ter)
NM_000288.4(PEX7):c.115C>A (p.His39Asn)
NM_000288.4(PEX7):c.116A>G (p.His39Arg)
NM_000288.4(PEX7):c.117C>T (p.His39=)
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg)
NM_000288.4(PEX7):c.126C>T (p.Ile42=) rs1464741803
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
NM_000288.4(PEX7):c.129G>C (p.Ala43=)
NM_000288.4(PEX7):c.130+10C>A rs794726882
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.130+1G>A rs267608253
NM_000288.4(PEX7):c.130+8G>C
NM_000288.4(PEX7):c.130+9G>A
NM_000288.4(PEX7):c.130+9G>C
NM_000288.4(PEX7):c.131-10T>C
NM_000288.4(PEX7):c.131-1G>A
NM_000288.4(PEX7):c.131-6C>G
NM_000288.4(PEX7):c.131-8C>G
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.159A>G (p.Pro53=)
NM_000288.4(PEX7):c.171G>C (p.Gly57=) rs750791932
NM_000288.4(PEX7):c.17G>C (p.Gly6Ala)
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>C rs267608254
NM_000288.4(PEX7):c.188+3A>G rs200234391
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn)
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501
NM_000288.4(PEX7):c.216T>C (p.Asp72=) rs1582732837
NM_000288.4(PEX7):c.234C>A (p.Asn78Lys)
NM_000288.4(PEX7):c.237C>T (p.Asn79=)
NM_000288.4(PEX7):c.240A>G (p.Glu80=)
NM_000288.4(PEX7):c.243T>C (p.His81=)
NM_000288.4(PEX7):c.244G>A (p.Val82Ile)
NM_000288.4(PEX7):c.258T>C (p.Cys86=)
NM_000288.4(PEX7):c.273G>A (p.Ser91=)
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.27G>A (p.Ala9=)
NM_000288.4(PEX7):c.290C>G (p.Thr97Ser)
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg)
NM_000288.4(PEX7):c.297A>G (p.Lys99=)
NM_000288.4(PEX7):c.300T>C (p.Ala100=)
NM_000288.4(PEX7):c.310C>T (p.Leu104=)
NM_000288.4(PEX7):c.315A>G (p.Gln105=) rs767901695
NM_000288.4(PEX7):c.315A>T (p.Gln105His)
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr)
NM_000288.4(PEX7):c.339+10A>C rs374668045
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.340-8G>A rs528317074
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.4(PEX7):c.346_348del (p.Ser116del)
NM_000288.4(PEX7):c.34C>T (p.Leu12=)
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.364del (p.Thr122fs)
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.408T>C (p.Thr136=)
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg)
NM_000288.4(PEX7):c.417+8A>G
NM_000288.4(PEX7):c.417+9G>A rs766476163
NM_000288.4(PEX7):c.418-10T>C
NM_000288.4(PEX7):c.418-1G>C
NM_000288.4(PEX7):c.418-3T>C
NM_000288.4(PEX7):c.418-4G>A rs199552223
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248
NM_000288.4(PEX7):c.42G>A (p.Thr14=)
NM_000288.4(PEX7):c.447C>T (p.Cys149=)
NM_000288.4(PEX7):c.450C>T (p.Thr150=)
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.462T>C (p.His154=)
NM_000288.4(PEX7):c.465A>G (p.Glu155=) rs1582745048
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn)
NM_000288.4(PEX7):c.46G>C (p.Gly16Arg)
NM_000288.4(PEX7):c.474_477del (p.Tyr159fs)
NM_000288.4(PEX7):c.480C>T (p.Ser160=)
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs)
NM_000288.4(PEX7):c.504T>C (p.Pro168=)
NM_000288.4(PEX7):c.516T>C (p.Ala172=)
NM_000288.4(PEX7):c.516T>G (p.Ala172=)
NM_000288.4(PEX7):c.519A>T (p.Ser173=)
NM_000288.4(PEX7):c.526+14T>C rs73777756
NM_000288.4(PEX7):c.526+19A>G
NM_000288.4(PEX7):c.527-5A>G
NM_000288.4(PEX7):c.534G>C (p.Gln178His) rs746010906
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
NM_000288.4(PEX7):c.561A>G (p.Ala187=)
NM_000288.4(PEX7):c.570A>G (p.Val190=)
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851
NM_000288.4(PEX7):c.57C>T (p.Gly19=)
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345
NM_000288.4(PEX7):c.60C>T (p.Tyr20=)
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser)
NM_000288.4(PEX7):c.630T>C (p.Asn210=) rs1466368201
NM_000288.4(PEX7):c.63C>G (p.Ala21=)
NM_000288.4(PEX7):c.63C>T (p.Ala21=)
NM_000288.4(PEX7):c.640C>T (p.Leu214=) rs1582759870
NM_000288.4(PEX7):c.648C>G (p.Thr216=)
NM_000288.4(PEX7):c.648C>T (p.Thr216=)
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.654G>T (p.Ala218=) rs1414537422
NM_000288.4(PEX7):c.672A>G (p.Arg224=) rs747145944
NM_000288.4(PEX7):c.681C>T (p.Asp227=)
NM_000288.4(PEX7):c.685A>C (p.Arg229=)
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu)
NM_000288.4(PEX7):c.726C>T (p.Thr242=)
NM_000288.4(PEX7):c.72C>T (p.Phe24=)
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421
NM_000288.4(PEX7):c.739A>C (p.Arg247=)
NM_000288.4(PEX7):c.741G>A (p.Arg247=)
NM_000288.4(PEX7):c.747+20_747+24del rs199624608
NM_000288.4(PEX7):c.748-10T>C rs886061122
NM_000288.4(PEX7):c.748-16C>T
NM_000288.4(PEX7):c.748-4G>T rs74658757
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000288.4(PEX7):c.748-5dup rs563675060
NM_000288.4(PEX7):c.748-9T>C
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.759T>C (p.Phe253=)
NM_000288.4(PEX7):c.75C>T (p.Ser25=)
NM_000288.4(PEX7):c.777C>G (p.Ala259=)
NM_000288.4(PEX7):c.786G>A (p.Ser262=)
NM_000288.4(PEX7):c.789T>C (p.Tyr263=)
NM_000288.4(PEX7):c.78G>A (p.Pro26=)
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)
NM_000288.4(PEX7):c.803+14dup
NM_000288.4(PEX7):c.804-5C>T rs369653173
NM_000288.4(PEX7):c.81C>T (p.Tyr27=)
NM_000288.4(PEX7):c.82C>T (p.Leu28=)
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe)
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764
NM_000288.4(PEX7):c.860_861del (p.Glu287fs)
NM_000288.4(PEX7):c.867T>C (p.Thr289=) rs936175997
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.4(PEX7):c.903+1G>C rs148591292
NM_000288.4(PEX7):c.903+7G>T rs1227993935
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_000288.4(PEX7):c.904-4C>G
NM_000288.4(PEX7):c.90C>A (p.Gly30=)
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe)
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118
NM_000288.4(PEX7):c.957T>C (p.Leu319=)
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp)
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg)
NM_000288.4(PEX7):c.971G>A (p.Ter324=)
NM_000288.4(PEX7):c.9G>C (p.Ala3=)
NM_000382.2(ALDH3A2):c.153+5_386-408delins19
NM_000382.2(ALDH3A2):c.154_155delAG (p.Ser52Terfs)
NM_000382.2(ALDH3A2):c.[733G>A;901G>C;906delT;909T>G]
NM_000382.3(ALDH3A2):c.*1030G>T
NM_000382.3(ALDH3A2):c.*1082G>A
NM_000382.3(ALDH3A2):c.*1184A>G
NM_000382.3(ALDH3A2):c.*1256C>G
NM_000382.3(ALDH3A2):c.*1258A>C
NM_000382.3(ALDH3A2):c.*1314T>C
NM_000382.3(ALDH3A2):c.*1362G>A
NM_000382.3(ALDH3A2):c.*1452C>G
NM_000382.3(ALDH3A2):c.*1462G>A
NM_000382.3(ALDH3A2):c.*1600C>G
NM_000382.3(ALDH3A2):c.*1609A>G
NM_000382.3(ALDH3A2):c.*1628A>G
NM_000382.3(ALDH3A2):c.*1656C>T
NM_000382.3(ALDH3A2):c.*171A>G
NM_000382.3(ALDH3A2):c.*1721C>T
NM_000382.3(ALDH3A2):c.*1788C>G
NM_000382.3(ALDH3A2):c.*1802A>G
NM_000382.3(ALDH3A2):c.*1877_*1878CA[1]
NM_000382.3(ALDH3A2):c.*1900A>G
NM_000382.3(ALDH3A2):c.*1930C>T
NM_000382.3(ALDH3A2):c.*1938G>A
NM_000382.3(ALDH3A2):c.*1971A>G
NM_000382.3(ALDH3A2):c.*292G>T
NM_000382.3(ALDH3A2):c.*330T>C
NM_000382.3(ALDH3A2):c.*36G>A
NM_000382.3(ALDH3A2):c.*377_*378TG[2]
NM_000382.3(ALDH3A2):c.*378G>A
NM_000382.3(ALDH3A2):c.*439G>C
NM_000382.3(ALDH3A2):c.*630G>A
NM_000382.3(ALDH3A2):c.*636T>C
NM_000382.3(ALDH3A2):c.*669del
NM_000382.3(ALDH3A2):c.*694C>T
NM_000382.3(ALDH3A2):c.*699A>G
NM_000382.3(ALDH3A2):c.*700G>T
NM_000382.3(ALDH3A2):c.*730T>A
NM_000382.3(ALDH3A2):c.*740G>C
NM_000382.3(ALDH3A2):c.*847C>T
NM_000382.3(ALDH3A2):c.*973T>C
NM_000382.3(ALDH3A2):c.-11A>G
NM_000382.3(ALDH3A2):c.-149C>G
NM_000382.3(ALDH3A2):c.-154G>A
NM_000382.3(ALDH3A2):c.-215C>T
NM_000382.3(ALDH3A2):c.-3G>A
NM_000382.3(ALDH3A2):c.-67C>T
NM_000382.3(ALDH3A2):c.-97G>A
NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter)
NM_000382.3(ALDH3A2):c.1021C>G (p.Pro341Ala) rs140519419
NM_000382.3(ALDH3A2):c.103C>T (p.Gln35Ter)
NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)
NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)
NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs)
NM_000382.3(ALDH3A2):c.1108-1G>A
NM_000382.3(ALDH3A2):c.1108-1G>C
NM_000382.3(ALDH3A2):c.1108-1G>T
NM_000382.3(ALDH3A2):c.1108-2A>G
NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter)
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) rs144496536
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807
NM_000382.3(ALDH3A2):c.1207+1G>A
NM_000382.3(ALDH3A2):c.1212del (p.Ser405fs)
NM_000382.3(ALDH3A2):c.1254T>C (p.Thr418=)
NM_000382.3(ALDH3A2):c.1258dup (p.Ser420fs)
NM_000382.3(ALDH3A2):c.126del (p.Thr43fs)
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs)
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1302dup (p.Ala435fs)
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter) rs1567607328
NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)
NM_000382.3(ALDH3A2):c.1347T>C (p.Asp449=)
NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)
NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)
NM_000382.3(ALDH3A2):c.1373G>A (p.Arg458Gln) rs144190241
NM_000382.3(ALDH3A2):c.1392C>T (p.Leu464=)
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) rs150927045
NM_000382.3(ALDH3A2):c.1431T>A (p.Ala477=)
NM_000382.3(ALDH3A2):c.1443+1222del
NM_000382.3(ALDH3A2):c.1443+1273_1443+1275delinsGG
NM_000382.3(ALDH3A2):c.1443+1G>A
NM_000382.3(ALDH3A2):c.1444-1G>T
NM_000382.3(ALDH3A2):c.1444-4C>T
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216
NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs)
NM_000382.3(ALDH3A2):c.153+2T>G
NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
NM_000382.3(ALDH3A2):c.231del (p.Glu77fs)
NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)
NM_000382.3(ALDH3A2):c.255GAA[1] (p.Lys86del)
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.281dup (p.Ala95fs)
NM_000382.3(ALDH3A2):c.287A>G (p.Tyr96Cys)
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu) rs72547554
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)
NM_000382.3(ALDH3A2):c.303T>C (p.Pro101=)
NM_000382.3(ALDH3A2):c.345C>T (p.Phe115=) rs201390270
NM_000382.3(ALDH3A2):c.352A>G (p.Thr118Ala)
NM_000382.3(ALDH3A2):c.364del (p.Pro121_Leu122insTer)
NM_000382.3(ALDH3A2):c.371_373del (p.Gly124del)
NM_000382.3(ALDH3A2):c.378C>T (p.Ile126=) rs1555532936
NM_000382.3(ALDH3A2):c.386-6A>G rs117330764
NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)
NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)
NM_000382.3(ALDH3A2):c.401T>C (p.Ile134Thr)
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435
NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter)
NM_000382.3(ALDH3A2):c.471+1G>C
NM_000382.3(ALDH3A2):c.471+1del
NM_000382.3(ALDH3A2):c.471+2T>G
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter)
NM_000382.3(ALDH3A2):c.521del (p.Leu174fs)
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487
NM_000382.3(ALDH3A2):c.564G>A (p.Ala188=) rs61757681
NM_000382.3(ALDH3A2):c.566T>C (p.Val189Ala)
NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter)
NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs) rs772967175
NM_000382.3(ALDH3A2):c.577del (p.Val193fs)
NM_000382.3(ALDH3A2):c.605C>A (p.Thr202Asn)
NM_000382.3(ALDH3A2):c.631A>G (p.Lys211Glu)
NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=) rs140649688
NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr)
NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter)
NM_000382.3(ALDH3A2):c.680G>A (p.Arg227Lys)
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His) rs866392702
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568
NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter)
NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)
NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter)
NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter)
NM_000382.3(ALDH3A2):c.786G>A (p.Lys262=)
NM_000382.3(ALDH3A2):c.798+1G>A
NM_000382.3(ALDH3A2):c.798+1_798+6del rs1057517352
NM_000382.3(ALDH3A2):c.798+1del
NM_000382.3(ALDH3A2):c.798+5G>A
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) rs72547569
NM_000382.3(ALDH3A2):c.799-6A>G
NM_000382.3(ALDH3A2):c.799G>T (p.Glu267Ter)
NM_000382.3(ALDH3A2):c.809del (p.Gly270fs)
NM_000382.3(ALDH3A2):c.824_825del (p.Glu275fs)
NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)
NM_000382.3(ALDH3A2):c.86C>T (p.Ala29Val)
NM_000382.3(ALDH3A2):c.87C>G (p.Ala29=)
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
NM_000382.3(ALDH3A2):c.918T>C (p.Thr306=)
NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)
NM_000382.3(ALDH3A2):c.957C>T (p.Thr319=) rs886052690
NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn)
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)
NM_000382.3(ALDH3A2):c.984G>A (p.Met328Ile)
NM_000382.3(ALDH3A2):c.988GAA[1] (p.Glu331del)
NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly) rs147200808
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1636G>A (p.Glu546Lys) rs769146546
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.3(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2137G>C (p.Gly713Arg) rs121913022
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026
NM_000400.3(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018
NM_000400.3(ERCC2):c.335G>A (p.Arg112His) rs121913020
NM_000400.3(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150
NM_000400.3(ERCC2):c.594+2_594+5del rs762309206
NM_000400.3(ERCC2):c.679C>T (p.Arg227Cys) rs137910235
NM_000400.4(ERCC2):c.1119-85G>A
NM_000400.4(ERCC2):c.1238-1192G>A
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)
NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs)
NM_000400.4(ERCC2):c.1832-3C>G
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala)
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)
NM_000400.4(ERCC2):c.2191-4G>A rs201840907
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys)
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp)
NM_000400.4(ERCC2):c.595-10G>A
NM_000526.5(KRT14):c.92del (p.Ile31fs) rs60231560
NM_001005741.2(GBA):c.[1448T>C;1483G>C;1497G>C]
NM_001127.3(AP1B1):c.2335del (p.Leu779fs) rs1602683532
NM_001127.3(AP1B1):c.2374G>T (p.Glu792Ter) rs780548317
NM_001127.3(AP1B1):c.38-1G>A rs1602761438
NM_001127.3(AP1B1):c.430T>C (p.Cys144Arg) rs1602749299
NM_001127698.2(SPINK5):c.1188_1189inv (p.Gly397Ser)
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_001127698.2(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591
NM_001127698.2(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_001164674.1(SUMF1):c.-25C>G rs780263159
NM_001193315.2(VIPAS39):c.1003A>G (p.Thr335Ala)
NM_001193315.2(VIPAS39):c.1366G>A (p.Asp456Asn)
NM_001283.5(AP1S1):c.183-2A>G rs751430853
NM_001283.5(AP1S1):c.220C>T (p.Gln74Ter) rs1584203922
NM_001283.5(AP1S1):c.364del (p.Asp122fs) rs767358930
NM_001283.5(AP1S1):c.364dup (p.Asp122fs) rs767358930
NM_001289148.1(VPS33B):c.*346A>T
NM_001289149.1(VPS33B):c.-123T>C rs121434385
NM_001323082.1(PHYH):c.-78G>T rs886046832
NM_001365650.1(ABHD5):c.-114A>G rs74845403
NM_001365650.1(ABHD5):c.-64G>A rs564192984
NM_001365650.1(ABHD5):c.-65G>C rs186175534
NM_001365650.1(ABHD5):c.-68C>G rs561357404
NM_001365650.1(ABHD5):c.-91C>G rs886058487
NM_001365650.1(ABHD5):c.-98C>A rs886058486
NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro) rs875989846
NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr) rs875989847
NM_004004.5(GJB2):c.*1447G>A rs11839674
NM_004004.5(GJB2):c.-216T>G rs574815423
NM_004004.6(GJB2):c.*1016A>G rs537683957
NM_004004.6(GJB2):c.*1033G>A rs185790172
NM_004004.6(GJB2):c.*1040A>G
NM_004004.6(GJB2):c.*104A>T rs7337074
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.*111C>T rs7329857
NM_004004.6(GJB2):c.*114T>C rs182085649
NM_004004.6(GJB2):c.*1152G>A rs7623
NM_004004.6(GJB2):c.*115A>C
NM_004004.6(GJB2):c.*1197T>A rs11841182
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1277T>C rs7988691
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*168A>G rs55704559
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.*236A>T
NM_004004.6(GJB2):c.*308G>A
NM_004004.6(GJB2):c.*385G>C
NM_004004.6(GJB2):c.*3C>A rs111033460
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*423C>T rs112457424
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*52C>T
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.*550A>G
NM_004004.6(GJB2):c.*598C>A rs550600399
NM_004004.6(GJB2):c.*679T>C
NM_004004.6(GJB2):c.*786G>A rs187158699
NM_004004.6(GJB2):c.*800A>G rs886050027
NM_004004.6(GJB2):c.*84T>C rs3751385
NM_004004.6(GJB2):c.*931C>T rs5030700
NM_004004.6(GJB2):c.*979A>G rs546826225
NM_004004.6(GJB2):c.-15C>T rs72561725
NM_004004.6(GJB2):c.-170C>G
NM_004004.6(GJB2):c.-1G>A
NM_004004.6(GJB2):c.-22-12C>T rs9578260
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-22-6T>C rs141962118
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.-45C>A rs397516868
NM_004004.6(GJB2):c.-6T>A rs148136545
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr) rs28931594
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.174A>G (p.Pro58=)
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.6(GJB2):c.244A>G (p.Ile82Val) rs1566528711
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly)
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053
NM_004004.6(GJB2):c.546G>A (p.Val182=)
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.557C>T (p.Thr186Met)
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004782.4(SNAP29):c.*1061C>T rs557600796
NM_004782.4(SNAP29):c.*1129T>C rs165801
NM_004782.4(SNAP29):c.*1174C>T
NM_004782.4(SNAP29):c.*123G>C rs3171741
NM_004782.4(SNAP29):c.*1315C>G rs41277337
NM_004782.4(SNAP29):c.*138C>T rs375995790
NM_004782.4(SNAP29):c.*1437T>C
NM_004782.4(SNAP29):c.*1438G>A
NM_004782.4(SNAP29):c.*1490T>C rs12168260
NM_004782.4(SNAP29):c.*1519T>C rs165861
NM_004782.4(SNAP29):c.*1543A>C rs9613204
NM_004782.4(SNAP29):c.*1563T>G rs11577
NM_004782.4(SNAP29):c.*1570T>C rs534348201
NM_004782.4(SNAP29):c.*1589T>C rs530035476
NM_004782.4(SNAP29):c.*1667G>A rs370941828
NM_004782.4(SNAP29):c.*1675C>T
NM_004782.4(SNAP29):c.*1789C>A rs756339493
NM_004782.4(SNAP29):c.*1874A>C
NM_004782.4(SNAP29):c.*2028G>A rs563529946
NM_004782.4(SNAP29):c.*2039T>G
NM_004782.4(SNAP29):c.*2052A>T rs74557072
NM_004782.4(SNAP29):c.*2059C>T
NM_004782.4(SNAP29):c.*2105T>G rs5752201
NM_004782.4(SNAP29):c.*210A>C
NM_004782.4(SNAP29):c.*2111G>T rs551094177
NM_004782.4(SNAP29):c.*2121dup rs886057272
NM_004782.4(SNAP29):c.*2143G>A rs370242754
NM_004782.4(SNAP29):c.*2168A>C rs886057273
NM_004782.4(SNAP29):c.*2171T>C
NM_004782.4(SNAP29):c.*2179G>A rs553271593
NM_004782.4(SNAP29):c.*2261G>A rs165744
NM_004782.4(SNAP29):c.*2261G>T rs165744
NM_004782.4(SNAP29):c.*2277C>T
NM_004782.4(SNAP29):c.*2280G>A
NM_004782.4(SNAP29):c.*2304C>T rs886057274
NM_004782.4(SNAP29):c.*2364A>G
NM_004782.4(SNAP29):c.*240C>T rs886057265
NM_004782.4(SNAP29):c.*2411T>C rs139989203
NM_004782.4(SNAP29):c.*2412C>T
NM_004782.4(SNAP29):c.*242G>A
NM_004782.4(SNAP29):c.*2484G>C
NM_004782.4(SNAP29):c.*2501G>A rs112984030
NM_004782.4(SNAP29):c.*2551G>A rs73162856
NM_004782.4(SNAP29):c.*255G>A rs187586025
NM_004782.4(SNAP29):c.*2564dup rs886057275
NM_004782.4(SNAP29):c.*2678T>C
NM_004782.4(SNAP29):c.*267C>T
NM_004782.4(SNAP29):c.*2692C>T rs148419415
NM_004782.4(SNAP29):c.*26T>C
NM_004782.4(SNAP29):c.*2712G>A
NM_004782.4(SNAP29):c.*2738G>A
NM_004782.4(SNAP29):c.*2749A>G
NM_004782.4(SNAP29):c.*2777G>A rs374333957
NM_004782.4(SNAP29):c.*2783C>T rs142566638
NM_004782.4(SNAP29):c.*2791T>C rs187911143
NM_004782.4(SNAP29):c.*2795C>T rs9625042
NM_004782.4(SNAP29):c.*2796G>A
NM_004782.4(SNAP29):c.*2816A>G rs165739
NM_004782.4(SNAP29):c.*2856G>A rs9625044
NM_004782.4(SNAP29):c.*2868A>G
NM_004782.4(SNAP29):c.*2872G>A rs111581119
NM_004782.4(SNAP29):c.*2879C>T rs140626919
NM_004782.4(SNAP29):c.*2892C>T
NM_004782.4(SNAP29):c.*2912G>A rs886057276
NM_004782.4(SNAP29):c.*2937_*2944del rs361606
NM_004782.4(SNAP29):c.*2944A>G
NM_004782.4(SNAP29):c.*2944del rs361606
NM_004782.4(SNAP29):c.*2961T>C rs165715
NM_004782.4(SNAP29):c.*3014C>T
NM_004782.4(SNAP29):c.*3015G>A rs145199625
NM_004782.4(SNAP29):c.*3035C>T rs886057278
NM_004782.4(SNAP29):c.*3107C>T rs886057279
NM_004782.4(SNAP29):c.*3156G>A
NM_004782.4(SNAP29):c.*3171G>A rs886057280
NM_004782.4(SNAP29):c.*3193G>A rs553460221
NM_004782.4(SNAP29):c.*3233A>G
NM_004782.4(SNAP29):c.*3246A>G
NM_004782.4(SNAP29):c.*3252T>G rs376610436
NM_004782.4(SNAP29):c.*3268T>C
NM_004782.4(SNAP29):c.*3283T>G
NM_004782.4(SNAP29):c.*3284G>T
NM_004782.4(SNAP29):c.*3285G>T
NM_004782.4(SNAP29):c.*420A>G rs178077
NM_004782.4(SNAP29):c.*472_*483delinsT rs1555915252
NM_004782.4(SNAP29):c.*477_*478AC[20] rs575240461
NM_004782.4(SNAP29):c.*477_*478AC[21] rs575240461
NM_004782.4(SNAP29):c.*477_*478AC[23] rs575240461
NM_004782.4(SNAP29):c.*477_*478AC[24] rs575240461
NM_004782.4(SNAP29):c.*496C>G
NM_004782.4(SNAP29):c.*505_*522del rs368659383
NM_004782.4(SNAP29):c.*507A>C
NM_004782.4(SNAP29):c.*513_*522del rs771299879
NM_004782.4(SNAP29):c.*515_*522del rs371833796
NM_004782.4(SNAP29):c.*517_*522del rs376990505
NM_004782.4(SNAP29):c.*519A>T rs200263284
NM_004782.4(SNAP29):c.*519_*522del rs747974281
NM_004782.4(SNAP29):c.*521T>A rs361998
NM_004782.4(SNAP29):c.*590T>C
NM_004782.4(SNAP29):c.*614C>G rs192171507
NM_004782.4(SNAP29):c.*61C>G
NM_004782.4(SNAP29):c.*624C>T
NM_004782.4(SNAP29):c.*6G>A
NM_004782.4(SNAP29):c.*740C>T rs79383799
NM_004782.4(SNAP29):c.*755A>G
NM_004782.4(SNAP29):c.*780G>T rs543150102
NM_004782.4(SNAP29):c.*816C>T rs886057271
NM_004782.4(SNAP29):c.*822C>T
NM_004782.4(SNAP29):c.*840G>C rs554942555
NM_004782.4(SNAP29):c.*948G>A
NM_004782.4(SNAP29):c.*991C>A
NM_004782.4(SNAP29):c.-19C>T rs1061063
NM_004782.4(SNAP29):c.-32C>G rs202138036
NM_004782.4(SNAP29):c.-40T>G rs886057263
NM_004782.4(SNAP29):c.-58C>A
NM_004782.4(SNAP29):c.-5G>A rs139884576
NM_004782.4(SNAP29):c.-60G>A
NM_004782.4(SNAP29):c.-68A>T rs117593372
NM_004782.4(SNAP29):c.-70_-69del rs886057262
NM_004782.4(SNAP29):c.-76G>A rs376809644
NM_004782.4(SNAP29):c.-8C>G rs186825747
NM_004782.4(SNAP29):c.-93G>T
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127
NM_004782.4(SNAP29):c.18A>G (p.Lys6=) rs1061064
NM_004782.4(SNAP29):c.199A>G (p.Met67Val)
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_004782.4(SNAP29):c.234C>G (p.Ser78=) rs144160898
NM_004782.4(SNAP29):c.237+10G>T
NM_004782.4(SNAP29):c.238-12C>T
NM_004782.4(SNAP29):c.240G>A (p.Glu80=) rs528593119
NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys) rs151146863
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004782.4(SNAP29):c.435-3A>G
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly) rs116892729
NM_004782.4(SNAP29):c.487dup (p.Ser163fs) rs387907363
NM_004782.4(SNAP29):c.502A>G (p.Arg168Gly) rs886057264
NM_004782.4(SNAP29):c.518C>G (p.Thr173Arg)
NM_004782.4(SNAP29):c.520+14T>C
NM_004782.4(SNAP29):c.550A>G (p.Met184Val) rs770234475
NM_004782.4(SNAP29):c.580C>T (p.His194Tyr) rs766339332
NM_004782.4(SNAP29):c.607G>A (p.Asp203Asn)
NM_004782.4(SNAP29):c.620-4G>A
NM_004782.4(SNAP29):c.620-6C>G
NM_004782.4(SNAP29):c.643C>T (p.Arg215Cys) rs371123997
NM_004782.4(SNAP29):c.697A>G (p.Ile233Val)
NM_004782.4(SNAP29):c.6A>G (p.Ser2=) rs770386845
NM_004782.4(SNAP29):c.72T>A (p.Pro24=) rs149837436
NM_005094.4(SLC27A4):c.1052A>G (p.Asn351Ser) rs111417655
NM_005094.4(SLC27A4):c.1208G>A (p.Cys403Tyr)
NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs)
NM_005094.4(SLC27A4):c.1511G>T (p.Arg504Leu)
NM_005094.4(SLC27A4):c.1523C>T (p.Thr508Met) rs765311079
NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His)
NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His) rs137853135
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs) rs758657421
NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr) rs137853132
NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter) rs137853131
NM_005094.4(SLC27A4):c.716-1G>A rs1588559786
NM_005094.4(SLC27A4):c.739T>C (p.Ser247Pro) rs137853133
NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg) rs137853134
NM_005094.4(SLC27A4):c.988-19A>G
NM_005094.4(SLC27A4):c.988-2A>G rs764922350
NM_006214.4(PHYH):c.*188A>C
NM_006214.4(PHYH):c.*189del rs3839912
NM_006214.4(PHYH):c.*22T>G rs186628076
NM_006214.4(PHYH):c.*253G>T
NM_006214.4(PHYH):c.*25C>T
NM_006214.4(PHYH):c.*417A>G
NM_006214.4(PHYH):c.*434A>G
NM_006214.4(PHYH):c.*47G>A rs180770135
NM_006214.4(PHYH):c.*499C>T
NM_006214.4(PHYH):c.*65G>A rs11133
NM_006214.4(PHYH):c.-20G>C rs546291238
NM_006214.4(PHYH):c.1009A>G (p.Asn337Asp) rs758218321
NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis) rs566116760
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501
NM_006214.4(PHYH):c.135-2A>G rs201578674
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682
NM_006214.4(PHYH):c.176A>C (p.Lys59Thr) rs886046831
NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup) rs1554785878
NM_006214.4(PHYH):c.245G>A (p.Arg82Gln) rs886046830
NM_006214.4(PHYH):c.321G>A (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.321G>T (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.354C>G (p.Ile118Met) rs779724199
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629
NM_006214.4(PHYH):c.414+2T>C rs1554784939
NM_006214.4(PHYH):c.415-11del rs140309981
NM_006214.4(PHYH):c.574G>A (p.Ala192Thr) rs751660253
NM_006214.4(PHYH):c.581C>T (p.Thr194Met) rs141554572
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly) rs143957922
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys) rs201979258
NM_006214.4(PHYH):c.621_623del (p.Val208del) rs755838466
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407
NM_006214.4(PHYH):c.643G>A (p.Gly215Ser) rs7901902
NM_006214.4(PHYH):c.678+15C>T rs140995522
NM_006214.4(PHYH):c.678+5G>T rs201499815
NM_006214.4(PHYH):c.679-11T>A rs886046828
NM_006214.4(PHYH):c.679G>T (p.Gly227Trp)
NM_006214.4(PHYH):c.703G>A (p.Gly235Arg) rs750819521
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006214.4(PHYH):c.739C>T (p.His247Tyr)
NM_006214.4(PHYH):c.76-9A>T rs368542152
NM_006214.4(PHYH):c.766_767del (p.Val256fs) rs797045100
NM_006214.4(PHYH):c.792C>T (p.His264=) rs372047384
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178
NM_006214.4(PHYH):c.828+4A>T
NM_006214.4(PHYH):c.829-3C>A rs116930123
NM_006214.4(PHYH):c.83A>G (p.His28Arg)
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169
NM_006214.4(PHYH):c.93A>C (p.Ser31=) rs202198596
NM_006214.4(PHYH):c.948T>C (p.Asn316=)
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln) rs367851769
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) rs121907988
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr)
NM_006623.4(PHGDH):c.357-1G>A rs766427173
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) rs147066269
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys) rs587777774
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp)
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro) rs587777775
NM_006623.4(PHGDH):c.910G>A (p.Val304Met)
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058
NM_006846.3(SPINK5):c.*208C>G rs3088193
NM_006846.3(SPINK5):c.*229A>C rs759149324
NM_006846.3(SPINK5):c.*330T>C rs72660265
NM_006846.3(SPINK5):c.*358A>G rs527953668
NM_006846.3(SPINK5):c.*361_*363dup rs397704765
NM_006846.3(SPINK5):c.*44T>C rs4349706
NM_006846.3(SPINK5):c.*59C>T rs73794699
NM_006846.3(SPINK5):c.*78A>G rs774183421
NM_006846.3(SPINK5):c.-10C>T rs778902700
NM_006846.3(SPINK5):c.-61A>C rs74572734
NM_006846.3(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881
NM_006846.3(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.3(SPINK5):c.1128C>T (p.Asn376=) rs78128189
NM_006846.3(SPINK5):c.1144A>T (p.Thr382Ser) rs770766012
NM_006846.3(SPINK5):c.1194C>T (p.Asn398=) rs750608792
NM_006846.3(SPINK5):c.119G>C (p.Gly40Ala) rs73269156
NM_006846.3(SPINK5):c.1282A>G (p.Lys428Glu) rs1428055248
NM_006846.3(SPINK5):c.1302+16C>T rs112708641
NM_006846.3(SPINK5):c.1302+19G>A rs2303068
NM_006846.3(SPINK5):c.1302+4A>T rs201269335
NM_006846.3(SPINK5):c.1322G>A (p.Arg441His) rs34393923
NM_006846.3(SPINK5):c.1344G>A (p.Arg448=) rs17107741
NM_006846.3(SPINK5):c.1355C>T (p.Thr452Ile) rs1321102136
NM_006846.3(SPINK5):c.1373T>C (p.Ile458Thr) rs1581082573
NM_006846.3(SPINK5):c.139G>T (p.Asp47Tyr) rs199620733
NM_006846.3(SPINK5):c.1431-10T>G rs759079847
NM_006846.3(SPINK5):c.1437del (p.Glu480fs) rs1554104853
NM_006846.3(SPINK5):c.1480-10C>A rs375718943
NM_006846.3(SPINK5):c.1499G>A (p.Arg500Gln) rs201428589
NM_006846.3(SPINK5):c.1526T>C (p.Ile509Thr) rs1268068282
NM_006846.3(SPINK5):c.1539G>A (p.Glu513=) rs184512279
NM_006846.3(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632
NM_006846.3(SPINK5):c.1553G>A (p.Arg518His) rs576310290
NM_006846.3(SPINK5):c.1592T>G (p.Met531Arg) rs985590287
NM_006846.3(SPINK5):c.1605G>A (p.Val535=) rs201831966
NM_006846.3(SPINK5):c.1605G>T (p.Val535=) rs201831966
NM_006846.3(SPINK5):c.1607+7G>T rs541432320
NM_006846.3(SPINK5):c.1615_1618delinsCTTTTTCTATTACAGCA (p.Glu539fs) rs1561693720
NM_006846.3(SPINK5):c.1660G>A (p.Glu554Lys) rs374599097
NM_006846.3(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_006846.3(SPINK5):c.1764T>G (p.Ile588Met) rs35877540
NM_006846.3(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.3(SPINK5):c.1820+11G>A rs796478719
NM_006846.3(SPINK5):c.1825C>A (p.Gln609Lys) rs1366194827
NM_006846.3(SPINK5):c.1851T>C (p.Ala617=) rs17718737
NM_006846.3(SPINK5):c.1875A>T (p.Arg625Ser) rs373811778
NM_006846.3(SPINK5):c.1887G>C (p.Lys629Asn) rs772652367
NM_006846.3(SPINK5):c.1888-1G>A rs759255682
NM_006846.3(SPINK5):c.1907G>A (p.Arg636Gln) rs758747211
NM_006846.3(SPINK5):c.1915_1916del (p.Leu639fs) rs1581096271
NM_006846.3(SPINK5):c.1960C>T (p.Arg654Cys) rs199567491
NM_006846.3(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576
NM_006846.3(SPINK5):c.2015+8C>A rs1457469450
NM_006846.3(SPINK5):c.2061G>A (p.Gln687=) rs36111383
NM_006846.3(SPINK5):c.209+15C>T rs3752677
NM_006846.3(SPINK5):c.2124T>C (p.Ala708=) rs200884153
NM_006846.3(SPINK5):c.2168G>A (p.Arg723Gln) rs755881402
NM_006846.3(SPINK5):c.2239T>C (p.Leu747=) rs759451448
NM_006846.3(SPINK5):c.2241-4C>G rs1554106267
NM_006846.3(SPINK5):c.2241-6C>T rs190365795
NM_006846.3(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.3(SPINK5):c.2276G>A (p.Arg759His) rs781193914
NM_006846.3(SPINK5):c.2290G>T (p.Gly764Trp) rs778017808
NM_006846.3(SPINK5):c.2296G>A (p.Gly766Arg) rs1008169582
NM_006846.3(SPINK5):c.2360T>C (p.Ile787Thr) rs759856421
NM_006846.3(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.3(SPINK5):c.2382T>C (p.Pro794=) rs188840406
NM_006846.3(SPINK5):c.238dup (p.Ala80fs)
NM_006846.3(SPINK5):c.2419T>G (p.Cys807Gly) rs201815688
NM_006846.3(SPINK5):c.2441+1G>A rs1561701382
NM_006846.3(SPINK5):c.2442-16A>G rs148657069
NM_006846.3(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.3(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.3(SPINK5):c.2531A>G (p.Asp844Gly) rs1468330376
NM_006846.3(SPINK5):c.2558G>A (p.Arg853Gln) rs376107938
NM_006846.3(SPINK5):c.2632C>T (p.His878Tyr) rs748500823
NM_006846.3(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445
NM_006846.3(SPINK5):c.2666+4C>T rs376671081
NM_006846.3(SPINK5):c.2667-4G>A rs180955184
NM_006846.3(SPINK5):c.2736A>G (p.Ala912=) rs773053071
NM_006846.3(SPINK5):c.2739+10del rs769519367
NM_006846.3(SPINK5):c.2754A>G (p.Glu918=) rs114635730
NM_006846.3(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166
NM_006846.3(SPINK5):c.2795G>A (p.Arg932Lys) rs201942775
NM_006846.3(SPINK5):c.283-2A>T rs587777749
NM_006846.3(SPINK5):c.2830T>G (p.Phe944Val) rs1169533706
NM_006846.3(SPINK5):c.2863G>C (p.Val955Leu) rs773604007
NM_006846.3(SPINK5):c.2864T>C (p.Val955Ala) rs115820034
NM_006846.3(SPINK5):c.2895G>A (p.Lys965=) rs34966234
NM_006846.3(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691
NM_006846.3(SPINK5):c.2915A>G (p.His972Arg) rs17705005
NM_006846.3(SPINK5):c.2939A>G (p.Asp980Gly) rs778193022
NM_006846.3(SPINK5):c.2963T>C (p.Leu988Pro) rs553107767
NM_006846.3(SPINK5):c.2965-10G>C rs58888156
NM_006846.3(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225
NM_006846.3(SPINK5):c.3075C>T (p.Cys1025=) rs571812048
NM_006846.3(SPINK5):c.3077T>G (p.Met1026Arg) rs373251772
NM_006846.3(SPINK5):c.3091A>G (p.Asn1031Asp) rs1581113847
NM_006846.3(SPINK5):c.3101G>A (p.Arg1034His) rs775295911
NM_006846.3(SPINK5):c.3113C>A (p.Thr1038Lys) rs370311628
NM_006846.3(SPINK5):c.3121C>T (p.Arg1041Cys) rs374003659
NM_006846.3(SPINK5):c.313A>G (p.Arg105Gly) rs371334869
NM_006846.3(SPINK5):c.316G>A (p.Asp106Asn) rs17860502
NM_006846.3(SPINK5):c.3183G>A (p.Pro1061=) rs77756935
NM_006846.3(SPINK5):c.3186+8C>T rs115366845
NM_006846.3(SPINK5):c.3189C>T (p.Asp1063=) rs200751535
NM_006846.3(SPINK5):c.341A>G (p.Tyr114Cys) rs764853169
NM_006846.3(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.3(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC (p.Cys119_Lys124delinsAspAsnIleTer) rs1581064755
NM_006846.3(SPINK5):c.418G>A (p.Gly140Arg) rs573158320
NM_006846.3(SPINK5):c.456G>A (p.Lys152=) rs777350307
NM_006846.3(SPINK5):c.524G>A (p.Cys175Tyr) rs1279742014
NM_006846.3(SPINK5):c.531G>A (p.Arg177=) rs35121983
NM_006846.3(SPINK5):c.551G>A (p.Gly184Asp) rs201812473
NM_006846.3(SPINK5):c.598C>T (p.Leu200=) rs114784178
NM_006846.3(SPINK5):c.59C>T (p.Ala20Val) rs777592836
NM_006846.3(SPINK5):c.603-3C>T rs185217593
NM_006846.3(SPINK5):c.606A>C (p.Leu202Phe) rs750627345
NM_006846.3(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.3(SPINK5):c.677A>G (p.Lys226Arg) rs370010334
NM_006846.3(SPINK5):c.690del (p.Lys230fs) rs1561684604
NM_006846.3(SPINK5):c.730G>A (p.Asp244Asn) rs774534780
NM_006846.3(SPINK5):c.739C>T (p.Arg247Cys) rs371290967
NM_006846.3(SPINK5):c.750C>T (p.Asp250=) rs199793551
NM_006846.3(SPINK5):c.753C>T (p.Gly251=) rs376643233
NM_006846.3(SPINK5):c.795-11A>G rs1561685366
NM_006846.3(SPINK5):c.799_800delinsAG (p.Gln267Arg) rs1581074856
NM_006846.3(SPINK5):c.803G>A (p.Arg268His) rs375727921
NM_006846.3(SPINK5):c.81+2T>A rs1131691490
NM_006846.3(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006846.3(SPINK5):c.834A>C (p.Gln278His) rs201354872
NM_006846.3(SPINK5):c.882+20A>G rs11958432
NM_006846.3(SPINK5):c.964G>A (p.Asp322Asn) rs1561686908
NM_006846.3(SPINK5):c.995del (p.Met332fs) rs1561686960
NM_006846.4(SPINK5):c.*301C>T
NM_006846.4(SPINK5):c.*90G>A
NM_006846.4(SPINK5):c.-19G>A
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter)
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796
NM_006846.4(SPINK5):c.1011-12C>T rs1422991
NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter)
NM_006846.4(SPINK5):c.1039G>C (p.Ala347Pro)
NM_006846.4(SPINK5):c.1041T>A (p.Ala347=)
NM_006846.4(SPINK5):c.1055G>T (p.Arg352Ile)
NM_006846.4(SPINK5):c.105A>T (p.Ala35=)
NM_006846.4(SPINK5):c.1071T>G (p.Ser357=) rs561354824
NM_006846.4(SPINK5):c.1072G>A (p.Gly358Arg)
NM_006846.4(SPINK5):c.1078G>A (p.Ala360Thr)
NM_006846.4(SPINK5):c.1084T>A (p.Ser362Thr)
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1093-4G>A rs754019195
NM_006846.4(SPINK5):c.1093-6C>T
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter)
NM_006846.4(SPINK5):c.1129G>A (p.Gly377Arg)
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) rs180696183
NM_006846.4(SPINK5):c.1134A>G (p.Lys378=)
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065
NM_006846.4(SPINK5):c.1205T>C (p.Met402Thr)
NM_006846.4(SPINK5):c.1216TTC[1] (p.Phe407del)
NM_006846.4(SPINK5):c.1218C>T (p.Phe406=) rs1581080925
NM_006846.4(SPINK5):c.1221-5T>C
NM_006846.4(SPINK5):c.1221-8T>C
NM_006846.4(SPINK5):c.1221-9C>A
NM_006846.4(SPINK5):c.1221C>T (p.Phe407=)
NM_006846.4(SPINK5):c.122A>C (p.Lys41Thr)
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067
NM_006846.4(SPINK5):c.1272A>G (p.Lys424=) rs1581081951
NM_006846.4(SPINK5):c.1284G>A (p.Lys428=)
NM_006846.4(SPINK5):c.1339G>A (p.Gly447Arg)
NM_006846.4(SPINK5):c.1342C>T (p.Arg448Trp)
NM_006846.4(SPINK5):c.1345C>A (p.Leu449Ile)
NM_006846.4(SPINK5):c.1379G>T (p.Gly460Val)
NM_006846.4(SPINK5):c.1384G>A (p.Asp462Asn)
NM_006846.4(SPINK5):c.1386T>A (p.Asp462Glu)
NM_006846.4(SPINK5):c.1386T>C (p.Asp462=)
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303
NM_006846.4(SPINK5):c.1401C>T (p.Gly467=) rs374181561
NM_006846.4(SPINK5):c.1430+8G>C
NM_006846.4(SPINK5):c.1438GAA[1] (p.Glu481del)
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753
NM_006846.4(SPINK5):c.1461T>C (p.Ala487=) rs750918436
NM_006846.4(SPINK5):c.1498C>T (p.Arg500Trp)
NM_006846.4(SPINK5):c.1525A>G (p.Ile509Val)
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn)
NM_006846.4(SPINK5):c.1546C>T (p.Pro516Ser)
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.1557C>T (p.Gly519=)
NM_006846.4(SPINK5):c.1602T>A (p.Ser534Arg)
NM_006846.4(SPINK5):c.1607+5G>A
NM_006846.4(SPINK5):c.1617AGA[4] (p.Glu542dup)
NM_006846.4(SPINK5):c.1642GAA[1] (p.Glu549del)
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071
NM_006846.4(SPINK5):c.1671A>G (p.Lys557=) rs1581089650
NM_006846.4(SPINK5):c.1681G>A (p.Glu561Lys)
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly)
NM_006846.4(SPINK5):c.1702A>G (p.Ser568Gly)
NM_006846.4(SPINK5):c.1704T>C (p.Ser568=)
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=) rs201674667
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg)
NM_006846.4(SPINK5):c.1754A>C (p.Asn585Thr)
NM_006846.4(SPINK5):c.1771C>T (p.Leu591=)
NM_006846.4(SPINK5):c.1772T>C (p.Leu591Pro)
NM_006846.4(SPINK5):c.1774G>C (p.Asp592His)
NM_006846.4(SPINK5):c.1788C>T (p.His596=)
NM_006846.4(SPINK5):c.178A>G (p.Ile60Val)
NM_006846.4(SPINK5):c.1821-4A>G rs1211543982
NM_006846.4(SPINK5):c.1821-7C>G
NM_006846.4(SPINK5):c.1825C>T (p.Gln609Ter)
NM_006846.4(SPINK5):c.182A>G (p.Asn61Ser)
NM_006846.4(SPINK5):c.1832C>T (p.Ala611Val)
NM_006846.4(SPINK5):c.1881T>A (p.Ala627=)
NM_006846.4(SPINK5):c.1896C>T (p.Cys632=) rs764541508
NM_006846.4(SPINK5):c.1897G>A (p.Asp633Asn)
NM_006846.4(SPINK5):c.1903T>C (p.Phe635Leu)
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro)
NM_006846.4(SPINK5):c.1955C>T (p.Pro652Leu)
NM_006846.4(SPINK5):c.195G>A (p.Thr65=)
NM_006846.4(SPINK5):c.195G>T (p.Thr65=) rs370397387
NM_006846.4(SPINK5):c.1961G>A (p.Arg654His)
NM_006846.4(SPINK5):c.1971T>C (p.Asp657=)
NM_006846.4(SPINK5):c.19T>C (p.Ser7Pro)
NM_006846.4(SPINK5):c.2038_2039del (p.Lys680fs)
NM_006846.4(SPINK5):c.2072C>T (p.Ala691Val)
NM_006846.4(SPINK5):c.2088TGG[2] (p.Gly701del) rs111662216
NM_006846.4(SPINK5):c.209+3G>A
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile)
NM_006846.4(SPINK5):c.2113-18G>A
NM_006846.4(SPINK5):c.2115C>T (p.Asp705=)
NM_006846.4(SPINK5):c.211G>A (p.Glu71Lys)
NM_006846.4(SPINK5):c.2127G>A (p.Glu709=) rs369323668
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134
NM_006846.4(SPINK5):c.2138A>T (p.Gln713Leu)
NM_006846.4(SPINK5):c.2162G>A (p.Cys721Tyr)
NM_006846.4(SPINK5):c.2167C>T (p.Arg723Trp)
NM_006846.4(SPINK5):c.2190T>C (p.Asp730=)
NM_006846.4(SPINK5):c.2205G>A (p.Ser735=) rs768901845
NM_006846.4(SPINK5):c.2208CAA[1] (p.Asn738del) rs781321238
NM_006846.4(SPINK5):c.2209A>G (p.Asn737Asp)
NM_006846.4(SPINK5):c.2241-18C>T
NM_006846.4(SPINK5):c.2261A>G (p.Lys754Arg)
NM_006846.4(SPINK5):c.2319A>G (p.Thr773=)
NM_006846.4(SPINK5):c.2325T>C (p.Asp775=)
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile)
NM_006846.4(SPINK5):c.2349T>C (p.Asn783=) rs1356587554
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908
NM_006846.4(SPINK5):c.2369G>A (p.Arg790Gln)
NM_006846.4(SPINK5):c.2372A>C (p.Glu791Ala)
NM_006846.4(SPINK5):c.2383G>A (p.Val795Ile)
NM_006846.4(SPINK5):c.2386C>T (p.Arg796Trp)
NM_006846.4(SPINK5):c.2390G>T (p.Gly797Val)
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397
NM_006846.4(SPINK5):c.2415T>C (p.Asn805=)
NM_006846.4(SPINK5):c.2423C>T (p.Thr808Ile)
NM_006846.4(SPINK5):c.2426T>C (p.Met809Thr)
NM_006846.4(SPINK5):c.2441+3_2441+6del
NM_006846.4(SPINK5):c.2442-3dup
NM_006846.4(SPINK5):c.2442-4C>A
NM_006846.4(SPINK5):c.2447G>A (p.Arg816Lys)
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006846.4(SPINK5):c.2514A>G (p.Thr838=)
NM_006846.4(SPINK5):c.2526C>T (p.Ser842=)
NM_006846.4(SPINK5):c.2538+8A>G
NM_006846.4(SPINK5):c.2539-4G>A
NM_006846.4(SPINK5):c.2548C>T (p.Arg850Cys)
NM_006846.4(SPINK5):c.2579del (p.Lys860fs) rs1362009010
NM_006846.4(SPINK5):c.2594G>C (p.Arg865Thr)
NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter)
NM_006846.4(SPINK5):c.2640T>C (p.Asn880=)
NM_006846.4(SPINK5):c.2651T>C (p.Met884Thr)
NM_006846.4(SPINK5):c.2652G>A (p.Met884Ile)
NM_006846.4(SPINK5):c.2666+5G>A
NM_006846.4(SPINK5):c.2667-13A>T rs2052537
NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter)
NM_006846.4(SPINK5):c.2672G>A (p.Arg891Gln)
NM_006846.4(SPINK5):c.2678C>G (p.Ala893Gly)
NM_006846.4(SPINK5):c.2688A>G (p.Arg896=)
NM_006846.4(SPINK5):c.2697A>C (p.Lys899Asn)
NM_006846.4(SPINK5):c.2700T>C (p.Asp900=)
NM_006846.4(SPINK5):c.2721G>C (p.Lys907Asn)
NM_006846.4(SPINK5):c.2740-127_2740-126del rs797045108
NM_006846.4(SPINK5):c.274C>A (p.Pro92Thr)
NM_006846.4(SPINK5):c.274C>G (p.Pro92Ala)
NM_006846.4(SPINK5):c.2759G>A (p.Arg920Gln)
NM_006846.4(SPINK5):c.2759G>C (p.Arg920Pro)
NM_006846.4(SPINK5):c.2782C>A (p.Leu928Ile)
NM_006846.4(SPINK5):c.2814C>T (p.His938=)
NM_006846.4(SPINK5):c.2825G>A (p.Gly942Glu)
NM_006846.4(SPINK5):c.2826A>C (p.Gly942=)
NM_006846.4(SPINK5):c.2837C>T (p.Thr946Ile)
NM_006846.4(SPINK5):c.2849A>G (p.Tyr950Cys)
NM_006846.4(SPINK5):c.2964+14T>G
NM_006846.4(SPINK5):c.3003G>C (p.Arg1001Ser)
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478
NM_006846.4(SPINK5):c.3028T>G (p.Leu1010Val)
NM_006846.4(SPINK5):c.3034C>T (p.Pro1012Ser)
NM_006846.4(SPINK5):c.3035C>T (p.Pro1012Leu)
NM_006846.4(SPINK5):c.3042T>C (p.Cys1014=) rs1237574831
NM_006846.4(SPINK5):c.3043G>A (p.Gly1015Ser)
NM_006846.4(SPINK5):c.3048C>T (p.Asp1016=)
NM_006846.4(SPINK5):c.3049G>A (p.Asp1017Asn)
NM_006846.4(SPINK5):c.3066C>A (p.Asn1022Lys)
NM_006846.4(SPINK5):c.3093C>T (p.Asn1031=)
NM_006846.4(SPINK5):c.3166G>A (p.Ala1056Thr)
NM_006846.4(SPINK5):c.316_317del (p.Asp106fs)
NM_006846.4(SPINK5):c.3172A>G (p.Ser1058Gly)
NM_006846.4(SPINK5):c.317A>T (p.Asp106Val)
NM_006846.4(SPINK5):c.3186+9A>G
NM_006846.4(SPINK5):c.3186+9A>T rs375728523
NM_006846.4(SPINK5):c.3190G>A (p.Glu1064Lys)
NM_006846.4(SPINK5):c.336T>G (p.Pro112=)
NM_006846.4(SPINK5):c.359G>A (p.Gly120Asp)
NM_006846.4(SPINK5):c.374del (p.Thr125fs) rs1419297868
NM_006846.4(SPINK5):c.382A>T (p.Asn128Tyr)
NM_006846.4(SPINK5):c.402T>C (p.Ala134=) rs371877583
NM_006846.4(SPINK5):c.426A>C (p.Gln142His)
NM_006846.4(SPINK5):c.450A>G (p.Glu150=)
NM_006846.4(SPINK5):c.452G>A (p.Cys151Tyr)
NM_006846.4(SPINK5):c.464A>G (p.Asn155Ser)
NM_006846.4(SPINK5):c.468A>G (p.Pro156=)
NM_006846.4(SPINK5):c.474+7T>A
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) rs574656084
NM_006846.4(SPINK5):c.48C>T (p.Leu16=)
NM_006846.4(SPINK5):c.493C>A (p.Arg165=)
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp)
NM_006846.4(SPINK5):c.523T>G (p.Cys175Gly)
NM_006846.4(SPINK5):c.528A>C (p.Thr176=)
NM_006846.4(SPINK5):c.535A>G (p.Asn179Asp)
NM_006846.4(SPINK5):c.586A>G (p.Met196Val)
NM_006846.4(SPINK5):c.587T>C (p.Met196Thr)
NM_006846.4(SPINK5):c.588G>C (p.Met196Ile)
NM_006846.4(SPINK5):c.602+10A>C rs1444836729
NM_006846.4(SPINK5):c.628C>A (p.Arg210=)
NM_006846.4(SPINK5):c.631G>A (p.Glu211Lys)
NM_006846.4(SPINK5):c.652C>G (p.Arg218Gly)
NM_006846.4(SPINK5):c.655A>G (p.Asn219Asp)
NM_006846.4(SPINK5):c.663A>G (p.Glu221=)
NM_006846.4(SPINK5):c.666+10C>T rs773205014
NM_006846.4(SPINK5):c.666G>T (p.Lys222Asn)
NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter)
NM_006846.4(SPINK5):c.719C>G (p.Thr240Arg)
NM_006846.4(SPINK5):c.738C>T (p.Val246=) rs149544665
NM_006846.4(SPINK5):c.744C>G (p.Gly248=)
NM_006846.4(SPINK5):c.745C>T (p.Pro249Ser)
NM_006846.4(SPINK5):c.781T>G (p.Cys261Gly)
NM_006846.4(SPINK5):c.788A>C (p.Glu263Ala)
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205
NM_006846.4(SPINK5):c.80A>G (p.Gln27Arg)
NM_006846.4(SPINK5):c.81+10G>A
NM_006846.4(SPINK5):c.81+3T>C
NM_006846.4(SPINK5):c.81+5G>A
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe)
NM_006846.4(SPINK5):c.850del (p.Glu284fs) rs1581074967
NM_006846.4(SPINK5):c.85A>G (p.Met29Val)
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn)
NM_006846.4(SPINK5):c.882+1_882+3del
NM_006846.4(SPINK5):c.886C>G (p.Leu296Val)
NM_006846.4(SPINK5):c.893G>A (p.Ser298Asn)
NM_006846.4(SPINK5):c.917A>G (p.Asn306Ser)
NM_006846.4(SPINK5):c.962C>T (p.Pro321Leu)
NM_006846.4(SPINK5):c.984C>T (p.Asn328=)
NM_006846.4(SPINK5):c.999T>C (p.Cys333=)
NM_006846.4(SPINK5):c.999T>G (p.Cys333Trp)
NM_006978.3(RNF113A):c.484T>C (p.Tyr162His)
NM_006978.3(RNF113A):c.76G>A (p.Gly26Arg)
NM_006978.3(RNF113A):c.897_898del (p.Cys299_Asp300delinsTer)
NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter) rs794726863
NM_006978.3(RNF113A):c.903_910del (p.Gln302fs) rs1603374549
NM_014908.3(DOLK):c.*124A>G rs758102948
NM_014908.3(DOLK):c.-149G>A rs886063515
NM_014908.3(DOLK):c.-194G>T rs886063516
NM_014908.3(DOLK):c.-255C>T rs886063517
NM_014908.3(DOLK):c.-269G>T rs371065378
NM_014908.3(DOLK):c.-386C>A rs576979416
NM_014908.3(DOLK):c.-394A>G rs750538185
NM_014908.3(DOLK):c.-49A>G rs116439010
NM_014908.3(DOLK):c.-94G>T rs567989779
NM_014908.3(DOLK):c.101T>C (p.Ile34Thr) rs1554826863
NM_014908.3(DOLK):c.1067G>A (p.Arg356Gln) rs199535796
NM_014908.3(DOLK):c.1087G>A (p.Ala363Thr) rs1588262062
NM_014908.3(DOLK):c.1114T>A (p.Phe372Ile) rs146395561
NM_014908.3(DOLK):c.1129C>T (p.Arg377Cys) rs868232833
NM_014908.3(DOLK):c.1130G>A (p.Arg377His) rs374317240
NM_014908.3(DOLK):c.1139G>A (p.Arg380His) rs553112177
NM_014908.3(DOLK):c.1149T>C (p.Pro383=) rs1554826752
NM_014908.3(DOLK):c.114A>G (p.Val38=) rs142000757
NM_014908.3(DOLK):c.1165C>T (p.Arg389Trp) rs758129067
NM_014908.3(DOLK):c.1166G>A (p.Arg389Gln) rs201984428
NM_014908.3(DOLK):c.1222C>G (p.His408Asp) rs387907030
NM_014908.3(DOLK):c.1241G>A (p.Gly414Asp) rs1554826737
NM_014908.3(DOLK):c.1257C>G (p.Ile419Met) rs138962748
NM_014908.3(DOLK):c.1262T>C (p.Leu421Pro) rs145125254
NM_014908.3(DOLK):c.1303G>C (p.Ala435Pro) rs1306365829
NM_014908.3(DOLK):c.1322A>C (p.Tyr441Ser) rs137853110
NM_014908.3(DOLK):c.1333C>A (p.Leu445Met) rs866088033
NM_014908.3(DOLK):c.1357G>C (p.Val453Leu) rs1294479059
NM_014908.3(DOLK):c.1373G>T (p.Gly458Val) rs999023298
NM_014908.3(DOLK):c.137C>T (p.Ala46Val) rs1554826859
NM_014908.3(DOLK):c.1438A>G (p.Ile480Val) rs144209926
NM_014908.3(DOLK):c.1446G>A (p.Ala482=) rs201027607
NM_014908.3(DOLK):c.1462G>T (p.Ala488Ser) rs1588261659
NM_014908.3(DOLK):c.1481A>G (p.Asp494Gly) rs145292760
NM_014908.3(DOLK):c.1532G>A (p.Ser511Asn) rs1178866364
NM_014908.3(DOLK):c.1558A>G (p.Thr520Ala) rs374860681
NM_014908.3(DOLK):c.159C>G (p.Ala53=) rs199857223
NM_014908.3(DOLK):c.164A>G (p.Tyr55Cys) rs41305507
NM_014908.3(DOLK):c.192A>G (p.Leu64=) rs563156233
NM_014908.3(DOLK):c.194A>G (p.Gln65Arg) rs754744977
NM_014908.3(DOLK):c.206C>T (p.Ala69Val) rs1554826850
NM_014908.3(DOLK):c.210C>G (p.Val70=) rs750368652
NM_014908.3(DOLK):c.219C>G (p.Phe73Leu) rs761385789
NM_014908.3(DOLK):c.288G>C (p.Lys96Asn) rs771259120
NM_014908.3(DOLK):c.292C>T (p.Arg98Trp) rs747555089
NM_014908.3(DOLK):c.295T>A (p.Cys99Ser) rs137853109
NM_014908.3(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014908.3(DOLK):c.313C>A (p.Pro105Thr) rs1454594732
NM_014908.3(DOLK):c.344C>T (p.Ala115Val) rs146804211
NM_014908.3(DOLK):c.376T>G (p.Ser126Ala) rs1564546286
NM_014908.3(DOLK):c.379G>A (p.Val127Met) rs752310792
NM_014908.3(DOLK):c.3G>A (p.Met1Ile) rs1564546510
NM_014908.3(DOLK):c.401G>A (p.Arg134His) rs768596252
NM_014908.3(DOLK):c.407T>C (p.Val136Ala) rs1306944564
NM_014908.3(DOLK):c.412A>G (p.Thr138Ala) rs933514904
NM_014908.3(DOLK):c.429C>G (p.Ile143Met) rs1261719011
NM_014908.3(DOLK):c.495C>A (p.Ile165=) rs149177994
NM_014908.3(DOLK):c.513T>C (p.Leu171=) rs886063514
NM_014908.3(DOLK):c.52G>A (p.Gly18Arg) rs777998210
NM_014908.3(DOLK):c.560G>A (p.Arg187His) rs377658203
NM_014908.3(DOLK):c.560G>T (p.Arg187Leu) rs377658203
NM_014908.3(DOLK):c.572C>A (p.Pro191His) rs767965852
NM_014908.3(DOLK):c.579G>A (p.Glu193=) rs28365522
NM_014908.3(DOLK):c.611T>C (p.Val204Ala) rs1554826810
NM_014908.3(DOLK):c.633C>T (p.Arg211=) rs147647278
NM_014908.3(DOLK):c.700A>G (p.Met234Val) rs139787271
NM_014908.3(DOLK):c.703G>A (p.Val235Ile) rs759019995
NM_014908.3(DOLK):c.710T>C (p.Met237Thr) rs201363976
NM_014908.3(DOLK):c.767C>T (p.Ser256Phe) rs1186154711
NM_014908.3(DOLK):c.771C>T (p.Ile257=) rs147416890
NM_014908.3(DOLK):c.807T>C (p.Gly269=) rs769294980
NM_014908.3(DOLK):c.873C>T (p.Leu291=) rs148646968
NM_014908.3(DOLK):c.898C>T (p.Leu300Phe) rs371529625
NM_014908.3(DOLK):c.912G>T (p.Trp304Cys) rs1564545929
NM_014908.3(DOLK):c.914C>G (p.Ser305Cys) rs766759178
NM_014908.3(DOLK):c.919C>T (p.Leu307=) rs927774250
NM_014908.3(DOLK):c.931G>T (p.Ala311Ser) rs1554826773
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe) rs1554826767
NM_014908.3(DOLK):c.975C>A (p.Ser325=) rs149462670
NM_014908.4(DOLK):c.*20G>A
NM_014908.4(DOLK):c.-15C>T
NM_014908.4(DOLK):c.-211C>T
NM_014908.4(DOLK):c.-22G>A
NM_014908.4(DOLK):c.1000A>T (p.Thr334Ser)
NM_014908.4(DOLK):c.1005C>T (p.Ile335=)
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr)
NM_014908.4(DOLK):c.1009C>G (p.Arg337Gly)
NM_014908.4(DOLK):c.1011A>G (p.Arg337=) rs375939944
NM_014908.4(DOLK):c.1058T>C (p.Ile353Thr)
NM_014908.4(DOLK):c.1065C>G (p.Asp355Glu)
NM_014908.4(DOLK):c.1068G>A (p.Arg356=)
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255
NM_014908.4(DOLK):c.1086C>T (p.Ala362=) rs751762161
NM_014908.4(DOLK):c.1092T>G (p.Thr364=) rs1280785615
NM_014908.4(DOLK):c.1098C>T (p.Cys366=) rs1588262054
NM_014908.4(DOLK):c.1107C>T (p.Val369=)
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys)
NM_014908.4(DOLK):c.1143C>T (p.Ile381=)
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala)
NM_014908.4(DOLK):c.1176G>T (p.Leu392=)
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly)
NM_014908.4(DOLK):c.1196G>A (p.Arg399Gln)
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs)
NM_014908.4(DOLK):c.1221A>G (p.Thr407=) rs973710719
NM_014908.4(DOLK):c.1224_1225del (p.Ile409fs)
NM_014908.4(DOLK):c.1227C>G (p.Ile409Met)
NM_014908.4(DOLK):c.122G>A (p.Arg41Gln)
NM_014908.4(DOLK):c.1235T>C (p.Leu412Pro)
NM_014908.4(DOLK):c.1245_1246del (p.Met415fs)
NM_014908.4(DOLK):c.1267C>T (p.Pro423Ser)
NM_014908.4(DOLK):c.1275del (p.Cys426fs)
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro)
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg) rs574562542
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg)
NM_014908.4(DOLK):c.128C>T (p.Ser43Leu)
NM_014908.4(DOLK):c.1290T>G (p.Gly430=)
NM_014908.4(DOLK):c.129G>C (p.Ser43=)
NM_014908.4(DOLK):c.1303G>A (p.Ala435Thr)
NM_014908.4(DOLK):c.1312C>T (p.Leu438Phe)
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile)
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr) rs143641133
NM_014908.4(DOLK):c.1359G>A (p.Val453=)
NM_014908.4(DOLK):c.1362C>T (p.Ala454=)
NM_014908.4(DOLK):c.1380C>T (p.Thr460=)
NM_014908.4(DOLK):c.1381A>G (p.Met461Val)
NM_014908.4(DOLK):c.1394G>A (p.Arg465His) rs148930043
NM_014908.4(DOLK):c.1395C>T (p.Arg465=)
NM_014908.4(DOLK):c.1402G>A (p.Gly468Arg)
NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu)
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val)
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile)
NM_014908.4(DOLK):c.1434A>G (p.Thr478=)
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) rs574290806
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977
NM_014908.4(DOLK):c.1490T>C (p.Val497Ala)
NM_014908.4(DOLK):c.1512T>C (p.Ala504=) rs183735415
NM_014908.4(DOLK):c.1527C>T (p.Ser509=) rs746460508
NM_014908.4(DOLK):c.1528A>G (p.Ile510Val)
NM_014908.4(DOLK):c.1557C>T (p.Tyr519=) rs367609050
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr)
NM_014908.4(DOLK):c.1597C>T (p.Leu533=)
NM_014908.4(DOLK):c.172T>G (p.Tyr58Asp)
NM_014908.4(DOLK):c.177G>A (p.Lys59=) rs747110969
NM_014908.4(DOLK):c.184C>A (p.Arg62=) rs533764998
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062
NM_014908.4(DOLK):c.187C>G (p.Leu63Val)
NM_014908.4(DOLK):c.18A>G (p.Pro6=)
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter) rs876657785
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689
NM_014908.4(DOLK):c.203G>T (p.Ser68Ile)
NM_014908.4(DOLK):c.216G>T (p.Gln72His)
NM_014908.4(DOLK):c.244T>C (p.Leu82=) rs1588262895
NM_014908.4(DOLK):c.248C>T (p.Pro83Leu)
NM_014908.4(DOLK):c.24G>A (p.Pro8=)
NM_014908.4(DOLK):c.250G>T (p.Ala84Ser)
NM_014908.4(DOLK):c.266C>T (p.Pro89Leu)
NM_014908.4(DOLK):c.275G>C (p.Gly92Ala)
NM_014908.4(DOLK):c.288G>A (p.Lys96=) rs771259120
NM_014908.4(DOLK):c.304G>T (p.Ala102Ser)
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly) rs779008975
NM_014908.4(DOLK):c.324G>C (p.Glu108Asp)
NM_014908.4(DOLK):c.33G>A (p.Gly11=) rs375483505
NM_014908.4(DOLK):c.34C>A (p.Pro12Thr)
NM_014908.4(DOLK):c.380T>C (p.Val127Ala)
NM_014908.4(DOLK):c.385G>T (p.Ala129Ser)
NM_014908.4(DOLK):c.387G>A (p.Ala129=) rs761831947
NM_014908.4(DOLK):c.387G>C (p.Ala129=)
NM_014908.4(DOLK):c.426C>T (p.Val142=)
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe)
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) rs377064301
NM_014908.4(DOLK):c.435C>T (p.Gly145=) rs781307203
NM_014908.4(DOLK):c.463A>T (p.Met155Leu)
NM_014908.4(DOLK):c.489G>T (p.Glu163Asp)
NM_014908.4(DOLK):c.501C>T (p.Val167=) rs372024402
NM_014908.4(DOLK):c.507A>T (p.Glu169Asp)
NM_014908.4(DOLK):c.509T>G (p.Val170Gly)
NM_014908.4(DOLK):c.523G>A (p.Val175Ile)
NM_014908.4(DOLK):c.525T>G (p.Val175=) rs200278288
NM_014908.4(DOLK):c.534C>A (p.Asn178Lys)
NM_014908.4(DOLK):c.572C>G (p.Pro191Arg)
NM_014908.4(DOLK):c.589G>A (p.Val197Ile)
NM_014908.4(DOLK):c.603T>G (p.Ile201Met)
NM_014908.4(DOLK):c.621G>T (p.Gln207His)
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298
NM_014908.4(DOLK):c.671A>T (p.Asp224Val) rs17485436
NM_014908.4(DOLK):c.679C>T (p.Leu227=)
NM_014908.4(DOLK):c.684GGT[2] (p.Val232del)
NM_014908.4(DOLK):c.702G>C (p.Met234Ile)
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn) rs876657786
NM_014908.4(DOLK):c.731dup (p.Phe245fs) rs1588262474
NM_014908.4(DOLK):c.747C>T (p.Asp249=)
NM_014908.4(DOLK):c.758G>C (p.Trp253Ser)
NM_014908.4(DOLK):c.819C>T (p.Pro273=)
NM_014908.4(DOLK):c.839G>A (p.Arg280His)
NM_014908.4(DOLK):c.859C>T (p.Leu287Phe)
NM_014908.4(DOLK):c.860TTC[1] (p.Leu288del) rs773789842
NM_014908.4(DOLK):c.86C>T (p.Ala29Val)
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)
NM_014908.4(DOLK):c.885C>T (p.Asp295=) rs762558659
NM_014908.4(DOLK):c.888C>G (p.Thr296=)
NM_014908.4(DOLK):c.894C>T (p.Ile298=) rs554098531
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys)
NM_014908.4(DOLK):c.909T>C (p.Tyr303=) rs1244007975
NM_014908.4(DOLK):c.90G>A (p.Val30=)
NM_014908.4(DOLK):c.916C>T (p.Leu306=) rs1290357070
NM_014908.4(DOLK):c.975C>T (p.Ser325=) rs149462670
NM_014908.4(DOLK):c.977A>T (p.Glu326Val)
NM_014908.4(DOLK):c.999C>T (p.Pro333=)
NM_015354.3(NUP188):c.-13C>T rs3750324
NM_015354.3(NUP188):c.-6G>A rs201511915
NM_015354.3(NUP188):c.8C>T (p.Ala3Val) rs746695959
NM_015411.4(SUMF2):c.536-2del rs1584599101
NM_016006.6(ABHD5):c.*1009T>A rs781163659
NM_016006.6(ABHD5):c.*1011G>C rs373123930
NM_016006.6(ABHD5):c.*1076G>A
NM_016006.6(ABHD5):c.*1110G>C rs2191361
NM_016006.6(ABHD5):c.*1201G>A rs886058490
NM_016006.6(ABHD5):c.*125A>T rs752632573
NM_016006.6(ABHD5):c.*1265A>G rs886058491
NM_016006.6(ABHD5):c.*1346_*1348del rs58997366
NM_016006.6(ABHD5):c.*1371A>G rs886058492
NM_016006.6(ABHD5):c.*1417A>G rs3733156
NM_016006.6(ABHD5):c.*1466T>C rs886058493
NM_016006.6(ABHD5):c.*1485A>T
NM_016006.6(ABHD5):c.*1537C>G
NM_016006.6(ABHD5):c.*154A>C
NM_016006.6(ABHD5):c.*1566G>A rs554908983
NM_016006.6(ABHD5):c.*1568T>C rs563435148
NM_016006.6(ABHD5):c.*1596A>T
NM_016006.6(ABHD5):c.*1613T>C rs12491747
NM_016006.6(ABHD5):c.*1662A>G rs117110703
NM_016006.6(ABHD5):c.*1729T>G rs139091067
NM_016006.6(ABHD5):c.*1756G>T rs34048061
NM_016006.6(ABHD5):c.*1757A>G rs113347419
NM_016006.6(ABHD5):c.*1758_*1759insG rs34011416
NM_016006.6(ABHD5):c.*1834C>G rs12488350
NM_016006.6(ABHD5):c.*1860del rs571429944
NM_016006.6(ABHD5):c.*1863G>A rs12488392
NM_016006.6(ABHD5):c.*1895C>A rs886058495
NM_016006.6(ABHD5):c.*1934del rs886058496
NM_016006.6(ABHD5):c.*1957G>T rs144021874
NM_016006.6(ABHD5):c.*2048T>G
NM_016006.6(ABHD5):c.*2057A>T rs886058497
NM_016006.6(ABHD5):c.*2064G>C rs148657202
NM_016006.6(ABHD5):c.*2099A>T
NM_016006.6(ABHD5):c.*2109T>C
NM_016006.6(ABHD5):c.*2128T>C
NM_016006.6(ABHD5):c.*2137A>G rs144521114
NM_016006.6(ABHD5):c.*2206G>A
NM_016006.6(ABHD5):c.*227T>C
NM_016006.6(ABHD5):c.*2304G>T rs886058498
NM_016006.6(ABHD5):c.*2324G>T rs17075919
NM_016006.6(ABHD5):c.*2349T>C
NM_016006.6(ABHD5):c.*2392dup rs767567435
NM_016006.6(ABHD5):c.*2445T>G rs572387719
NM_016006.6(ABHD5):c.*2463A>G rs76200032
NM_016006.6(ABHD5):c.*2492C>T
NM_016006.6(ABHD5):c.*2500A>G
NM_016006.6(ABHD5):c.*2508A>G rs75590382
NM_016006.6(ABHD5):c.*2540A>G
NM_016006.6(ABHD5):c.*2542A>G rs886058500
NM_016006.6(ABHD5):c.*2717dup rs201589254
NM_016006.6(ABHD5):c.*2718del rs886058502
NM_016006.6(ABHD5):c.*281C>A rs34226283
NM_016006.6(ABHD5):c.*2926G>A rs187702555
NM_016006.6(ABHD5):c.*2935C>A rs10433606
NM_016006.6(ABHD5):c.*2965C>G rs886058503
NM_016006.6(ABHD5):c.*29G>C rs376897300
NM_016006.6(ABHD5):c.*302T>A rs886058489
NM_016006.6(ABHD5):c.*3050_*3051del rs529300680
NM_016006.6(ABHD5):c.*3171G>T
NM_016006.6(ABHD5):c.*3186C>T rs886058505
NM_016006.6(ABHD5):c.*3253A>T rs10433548
NM_016006.6(ABHD5):c.*3289_*3292ACAG[1] rs542283317
NM_016006.6(ABHD5):c.*3292G>A
NM_016006.6(ABHD5):c.*3372A>C rs564535027
NM_016006.6(ABHD5):c.*3671A>G rs886058507
NM_016006.6(ABHD5):c.*3680A>C rs549324985
NM_016006.6(ABHD5):c.*3700T>C
NM_016006.6(ABHD5):c.*3730C>T rs886058508
NM_016006.6(ABHD5):c.*3755G>A rs551893817
NM_016006.6(ABHD5):c.*3761A>G rs886058509
NM_016006.6(ABHD5):c.*3806T>C rs528104363
NM_016006.6(ABHD5):c.*3832C>T
NM_016006.6(ABHD5):c.*3833G>T rs539827619
NM_016006.6(ABHD5):c.*3875A>G
NM_016006.6(ABHD5):c.*3885G>T
NM_016006.6(ABHD5):c.*38T>G rs887472
NM_016006.6(ABHD5):c.*392T>G
NM_016006.6(ABHD5):c.*3952T>C rs758729
NM_016006.6(ABHD5):c.*4147G>T rs758728
NM_016006.6(ABHD5):c.*4188A>C
NM_016006.6(ABHD5):c.*4189C>T rs113711457
NM_016006.6(ABHD5):c.*464A>G
NM_016006.6(ABHD5):c.*57T>C
NM_016006.6(ABHD5):c.*707A>G rs765950590
NM_016006.6(ABHD5):c.*848C>T
NM_016006.6(ABHD5):c.*879G>A rs577414446
NM_016006.6(ABHD5):c.*916C>T
NM_016006.6(ABHD5):c.*96A>G
NM_016006.6(ABHD5):c.-19C>T rs117630969
NM_016006.6(ABHD5):c.-24C>T rs189850893
NM_016006.6(ABHD5):c.-30A>G rs367627114
NM_016006.6(ABHD5):c.-48C>T
NM_016006.6(ABHD5):c.1025A>G (p.Lys342Arg) rs754772724
NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala)
NM_016006.6(ABHD5):c.12G>A (p.Glu4=) rs141365045
NM_016006.6(ABHD5):c.134-2A>G rs1575600969
NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys) rs104893676
NM_016006.6(ABHD5):c.201G>C (p.Lys67Asn)
NM_016006.6(ABHD5):c.202T>C (p.Phe68Leu) rs115209685
NM_016006.6(ABHD5):c.215T>C (p.Ile72Thr) rs2302349
NM_016006.6(ABHD5):c.228T>G (p.Thr76=) rs377718797
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly) rs144420157
NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu) rs148743497
NM_016006.6(ABHD5):c.344G>A (p.Ser115Asn) rs1559412343
NM_016006.6(ABHD5):c.345T>C (p.Ser115=) rs777749420
NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro) rs28939077
NM_016006.6(ABHD5):c.39C>T (p.Thr13=) rs140969259
NM_016006.6(ABHD5):c.418T>G (p.Cys140Gly)
NM_016006.6(ABHD5):c.430T>C (p.Leu144=) rs767197048
NM_016006.6(ABHD5):c.43G>A (p.Glu15Lys)
NM_016006.6(ABHD5):c.444C>T (p.Ile148=)
NM_016006.6(ABHD5):c.46_47del (p.Arg16fs) rs387906336
NM_016006.6(ABHD5):c.48-4C>G rs183345998
NM_016006.6(ABHD5):c.550C>T (p.Arg184Ter)
NM_016006.6(ABHD5):c.594dup (p.Arg199fs) rs387906335
NM_016006.6(ABHD5):c.640C>A (p.Leu214Ile) rs540791910
NM_016006.6(ABHD5):c.662-10T>G rs372889561
NM_016006.6(ABHD5):c.730dup (p.Thr244fs)
NM_016006.6(ABHD5):c.774-1G>A
NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys) rs28939078
NM_016006.6(ABHD5):c.806C>T (p.Pro269Leu) rs773285310
NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter)
NM_016006.6(ABHD5):c.811G>A (p.Gly271Arg) rs1575607298
NM_016006.6(ABHD5):c.836del (p.Gln279fs)
NM_016006.6(ABHD5):c.885C>T (p.Gly295=) rs746970260
NM_016006.6(ABHD5):c.906C>A (p.Gly302=) rs886058488
NM_016006.6(ABHD5):c.934C>T (p.Arg312Ter) rs761087968
NM_016006.6(ABHD5):c.961-15C>T
NM_016006.6(ABHD5):c.984T>C (p.Tyr328=)
NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter) rs104893675
NM_018668.4(VPS33B):c.*125C>T rs76401688
NM_018668.4(VPS33B):c.*155A>G rs886051555
NM_018668.4(VPS33B):c.*262T>G rs886051554
NM_018668.4(VPS33B):c.-131G>A rs755401805
NM_018668.4(VPS33B):c.-137A>G rs886051557
NM_018668.4(VPS33B):c.-269T>C rs561174112
NM_018668.4(VPS33B):c.-271A>C rs116461458
NM_018668.4(VPS33B):c.-299T>G rs773762275
NM_018668.4(VPS33B):c.-325T>C rs11073967
NM_018668.4(VPS33B):c.-335C>T rs886051558
NM_018668.4(VPS33B):c.-8C>T rs11542639
NM_018668.4(VPS33B):c.1105+10G>A rs370555380
NM_018668.4(VPS33B):c.1105+9C>T rs3826033
NM_018668.4(VPS33B):c.1130G>C (p.Arg377Pro) rs864622006
NM_018668.4(VPS33B):c.1148T>C (p.Ile383Thr) rs149121639
NM_018668.4(VPS33B):c.1170+5G>A rs201431055
NM_018668.4(VPS33B):c.1192C>T (p.Arg398Cys) rs943813904
NM_018668.4(VPS33B):c.1225+5G>C rs398122407
NM_018668.4(VPS33B):c.1274G>A (p.Ser425Asn) rs139709507
NM_018668.4(VPS33B):c.1312C>T (p.Arg438Ter) rs121434384
NM_018668.4(VPS33B):c.1332G>A (p.Thr444=) rs147407982
NM_018668.4(VPS33B):c.133C>A (p.Leu45Ile) rs199874738
NM_018668.4(VPS33B):c.136A>T (p.Met46Leu) rs202141764
NM_018668.4(VPS33B):c.1498G>T (p.Glu500Ter) rs751858602
NM_018668.4(VPS33B):c.151C>A (p.Arg51=) rs11542638
NM_018668.4(VPS33B):c.151C>T (p.Arg51Ter) rs11542638
NM_018668.4(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964
NM_018668.4(VPS33B):c.1591C>T (p.Arg531Trp) rs758814929
NM_018668.4(VPS33B):c.1594C>T (p.Arg532Ter) rs121434383
NM_018668.4(VPS33B):c.1656A>T (p.Thr552=) rs16945153
NM_018668.4(VPS33B):c.1671A>G (p.Glu557=) rs148071246
NM_018668.4(VPS33B):c.1685G>A (p.Ser562Asn) rs566630364
NM_018668.4(VPS33B):c.1701C>T (p.Leu567=) rs146999653
NM_018668.4(VPS33B):c.1726T>C (p.Cys576Arg) rs1596348299
NM_018668.4(VPS33B):c.240-13_240-12del rs111274092
NM_018668.4(VPS33B):c.240-577_290-156del rs1555460030
NM_018668.4(VPS33B):c.240-9C>T rs781107857
NM_018668.4(VPS33B):c.357G>A (p.Lys119=) rs146758743
NM_018668.4(VPS33B):c.363T>C (p.Tyr121=) rs149733667
NM_018668.4(VPS33B):c.403+2T>A rs769333468
NM_018668.4(VPS33B):c.404-14C>G rs886051556
NM_018668.4(VPS33B):c.498G>C (p.Leu166=) rs1555459218
NM_018668.4(VPS33B):c.597C>T (p.Cys199=) rs60198611
NM_018668.4(VPS33B):c.609A>G (p.Ala203=) rs76867988
NM_018668.4(VPS33B):c.648C>T (p.Gly216=) rs59648701
NM_018668.4(VPS33B):c.662G>A (p.Arg221Gln) rs377754864
NM_018668.4(VPS33B):c.680A>G (p.His227Arg) rs760894269
NM_018668.4(VPS33B):c.700+1G>A rs794726658
NM_018668.4(VPS33B):c.75G>A (p.Gln25=) rs1289650070
NM_018668.4(VPS33B):c.868C>T (p.Arg290Trp) rs750350100
NM_018668.4(VPS33B):c.941G>A (p.Arg314His) rs201698361
NM_018668.4(VPS33B):c.944G>A (p.Arg315Gln) rs145303578
NM_018668.4(VPS33B):c.[1030+1G>T];[319C>T]
NM_018668.5(VPS33B):c.*10C>T
NM_018668.5(VPS33B):c.*113G>A
NM_018668.5(VPS33B):c.*261T>A
NM_018668.5(VPS33B):c.-120G>A
NM_018668.5(VPS33B):c.-275C>G
NM_018668.5(VPS33B):c.-7C>G
NM_018668.5(VPS33B):c.1165C>T (p.Arg389Trp)
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln) rs145070485
NM_018668.5(VPS33B):c.1171-6A>G rs370691219
NM_018668.5(VPS33B):c.1261_1262del (p.Gln421fs) rs398122408
NM_018668.5(VPS33B):c.1501T>C (p.Tyr501His)
NM_018668.5(VPS33B):c.1719G>C (p.Leu573Phe)
NM_018668.5(VPS33B):c.1775-14A>G
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly)
NM_018668.5(VPS33B):c.350delC rs1555459968
NM_018668.5(VPS33B):c.44T>C (p.Phe15Ser)
NM_018668.5(VPS33B):c.499-3C>G
NM_018668.5(VPS33B):c.508C>A (p.Gln170Lys)
NM_018668.5(VPS33B):c.558_559del (p.Tyr187fs) rs1596358564
NM_018668.5(VPS33B):c.572C>G (p.Pro191Arg)
NM_018668.5(VPS33B):c.604-14T>C
NM_018668.5(VPS33B):c.888T>C (p.Asn296=)
NM_018668.5(VPS33B):c.916C>T (p.Arg306Trp)
NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer) rs864309516
NM_021101.5(CLDN1):c.358del (p.Val120fs) rs864309517
NM_021978.4(ST14):c.1113+15G>A rs597661
NM_021978.4(ST14):c.1215C>T (p.Asn405=) rs476106
NM_021978.4(ST14):c.1315G>A (p.Gly439Ser)
NM_021978.4(ST14):c.2034del (p.Leu678fs) rs587777263
NM_021978.4(ST14):c.2269+1G>A rs587777262
NM_021978.4(ST14):c.2479G>A (p.Gly827Arg) rs137852931
NM_021978.4(ST14):c.3G>A (p.Met1Ile) rs137852932
NM_022067.4(VIPAS39):c.1179+1G>A rs1594895847
NM_022067.4(VIPAS39):c.1184G>A (p.Trp395Ter) rs1555364979
NM_022067.4(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157
NM_022067.4(VIPAS39):c.20del (p.Asp7fs) rs1594929571
NM_022067.4(VIPAS39):c.2T>G (p.Met1Arg) rs267607172
NM_022067.4(VIPAS39):c.494G>A (p.Arg165Gln) rs376797384
NM_022067.4(VIPAS39):c.535C>T (p.Gln179Ter) rs267607173
NM_022067.4(VIPAS39):c.618_626dup (p.Arg206_Leu208dup) rs1594910243
NM_022067.4(VIPAS39):c.658C>T (p.Arg220Ter) rs200370925
NM_022067.4(VIPAS39):c.677A>G (p.His226Arg) rs1555366438
NM_022067.4(VIPAS39):c.749_753del (p.Thr250fs) rs794726653
NM_022067.4(VIPAS39):c.871C>T (p.Gln291Ter) rs267607171
NM_022726.4(ELOVL4):c.215del (p.Pro72fs) rs746047636
NM_022726.4(ELOVL4):c.289-2A>G rs1554162524
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494
NM_022726.4(ELOVL4):c.646C>T (p.Arg216Ter) rs387906916
NM_022726.4(ELOVL4):c.670-1G>A rs1561982219
NM_022726.4(ELOVL4):c.690del (p.Ile230fs) rs1131690772
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) rs587777776
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310
NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly)
NM_058179.4(PSAT1):c.178del (p.Val60fs) rs1564012541
NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp)
NM_058179.4(PSAT1):c.270C>G (p.Leu90=) rs775726256
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778
NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val) rs1057517807
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474
NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr)
NM_058179.4(PSAT1):c.348G>A (p.Lys116=) rs41277897
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) rs116577685
NM_058179.4(PSAT1):c.369C>T (p.Ile123=) rs762328288
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile)
NM_058179.4(PSAT1):c.393T>C (p.Tyr131=) rs370268538
NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg) rs1564013551
NM_058179.4(PSAT1):c.420G>A (p.Trp140Ter) rs1008314756
NM_058179.4(PSAT1):c.420G>T (p.Trp140Cys)
NM_058179.4(PSAT1):c.456C>T (p.Cys152=)
NM_058179.4(PSAT1):c.468G>A (p.Thr156=) rs200962308
NM_058179.4(PSAT1):c.481G>A (p.Glu161Lys)
NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro)
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) rs587777777
NM_058179.4(PSAT1):c.571-4dup rs536197677
NM_058179.4(PSAT1):c.696G>A (p.Val232=) rs140331840
NM_058179.4(PSAT1):c.741-18T>A
NM_058179.4(PSAT1):c.792C>T (p.Ala264=) rs371935677
NM_058179.4(PSAT1):c.794C>T (p.Ala265Val)
NM_058179.4(PSAT1):c.795G>A (p.Ala265=) rs184256039
NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser)
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile) rs200049723
NM_058179.4(PSAT1):c.869+9A>G rs368990190
NM_058179.4(PSAT1):c.884C>G (p.Pro295Arg) rs148080212
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) rs113824905
NM_058179.4(PSAT1):c.955dup (p.Arg319fs)
NM_138701.4(MPLKIP):c.137_138del (p.Gly46fs) rs587776531
NM_138701.4(MPLKIP):c.148_152del (p.His50fs) rs878854339
NM_138701.4(MPLKIP):c.277del (p.Ser93fs) rs587776532
NM_138701.4(MPLKIP):c.339+1G>A rs869312900
NM_138701.4(MPLKIP):c.430A>G (p.Met144Val) rs137853117
NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile) rs778910338
NM_138701.4(MPLKIP):c.49G>A (p.Gly17Ser)
NM_138701.4(MPLKIP):c.505dup (p.Thr169fs) rs768342562
NM_139057.4(ADAMTS17):c.*1011_*1016del rs879713910
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1016C>T rs886050962
NM_139057.4(ADAMTS17):c.*1024T>G rs886050961
NM_139057.4(ADAMTS17):c.*1054T>C rs886050960
NM_139057.4(ADAMTS17):c.*1065G>A rs886050959
NM_139057.4(ADAMTS17):c.*1078G>A rs2727196
NM_139057.4(ADAMTS17):c.*1083A>G rs2581362
NM_139057.4(ADAMTS17):c.*111C>T rs886050971
NM_139057.4(ADAMTS17):c.*1127C>T
NM_139057.4(ADAMTS17):c.*1130C>T rs377343119
NM_139057.4(ADAMTS17):c.*113A>G rs2581341
NM_139057.4(ADAMTS17):c.*116T>C rs143850369
NM_139057.4(ADAMTS17):c.*1213G>C
NM_139057.4(ADAMTS17):c.*1218T>C rs886050958
NM_139057.4(ADAMTS17):c.*1227_*1230AAGG[1] rs10549565
NM_139057.4(ADAMTS17):c.*1234G>A
NM_139057.4(ADAMTS17):c.*1243C>T rs2581363
NM_139057.4(ADAMTS17):c.*1244C>G rs561561821
NM_139057.4(ADAMTS17):c.*1278A>G
NM_139057.4(ADAMTS17):c.*1288C>T
NM_139057.4(ADAMTS17):c.*1289T>G rs2581365
NM_139057.4(ADAMTS17):c.*1315C>T rs185582795
NM_139057.4(ADAMTS17):c.*1348dup rs545574106
NM_139057.4(ADAMTS17):c.*1419G>A rs75143725
NM_139057.4(ADAMTS17):c.*1431_*1433TCC[1] rs757487035
NM_139057.4(ADAMTS17):c.*1448C>T rs188903672
NM_139057.4(ADAMTS17):c.*1449G>A rs2573625
NM_139057.4(ADAMTS17):c.*1490C>T rs2727195
NM_139057.4(ADAMTS17):c.*1507G>A
NM_139057.4(ADAMTS17):c.*1546G>A rs149694490
NM_139057.4(ADAMTS17):c.*1565G>C
NM_139057.4(ADAMTS17):c.*1600C>T rs185290147
NM_139057.4(ADAMTS17):c.*1642G>A
NM_139057.4(ADAMTS17):c.*1653C>G rs536677830
NM_139057.4(ADAMTS17):c.*1684C>T
NM_139057.4(ADAMTS17):c.*1685G>A
NM_139057.4(ADAMTS17):c.*1706G>A rs117744474
NM_139057.4(ADAMTS17):c.*1708G>C
NM_139057.4(ADAMTS17):c.*1729G>A rs58739070
NM_139057.4(ADAMTS17):c.*172_*174del rs137961566
NM_139057.4(ADAMTS17):c.*1741A>T rs542106384
NM_139057.4(ADAMTS17):c.*1749G>A rs757196506
NM_139057.4(ADAMTS17):c.*1759G>C rs539776359
NM_139057.4(ADAMTS17):c.*1763C>T rs550240800
NM_139057.4(ADAMTS17):c.*1766G>A
NM_139057.4(ADAMTS17):c.*1773G>T rs74037057
NM_139057.4(ADAMTS17):c.*1774C>T rs74037056
NM_139057.4(ADAMTS17):c.*1779T>C rs12440706
NM_139057.4(ADAMTS17):c.*1780G>A rs886050957
NM_139057.4(ADAMTS17):c.*181C>T
NM_139057.4(ADAMTS17):c.*1859C>T
NM_139057.4(ADAMTS17):c.*1899del rs138786481
NM_139057.4(ADAMTS17):c.*189G>C rs2581343
NM_139057.4(ADAMTS17):c.*190G>A rs2727199
NM_139057.4(ADAMTS17):c.*1944G>A rs116429760
NM_139057.4(ADAMTS17):c.*1946G>T rs77749500
NM_139057.4(ADAMTS17):c.*1992G>A rs114383018
NM_139057.4(ADAMTS17):c.*19G>A
NM_139057.4(ADAMTS17):c.*2007G>A rs8041901
NM_139057.4(ADAMTS17):c.*200G>A
NM_139057.4(ADAMTS17):c.*2012C>T rs190592619
NM_139057.4(ADAMTS17):c.*2013T>A
NM_139057.4(ADAMTS17):c.*2013T>G rs2727194
NM_139057.4(ADAMTS17):c.*2015T>C
NM_139057.4(ADAMTS17):c.*2079C>T rs75041141
NM_139057.4(ADAMTS17):c.*2115C>A
NM_139057.4(ADAMTS17):c.*2138C>T rs185690662
NM_139057.4(ADAMTS17):c.*2142_*2144GTT[1] rs886050956
NM_139057.4(ADAMTS17):c.*2157_*2158AG[1] rs144918924
NM_139057.4(ADAMTS17):c.*2172T>C
NM_139057.4(ADAMTS17):c.*2183G>A rs148789222
NM_139057.4(ADAMTS17):c.*2185G>C
NM_139057.4(ADAMTS17):c.*2186T>C
NM_139057.4(ADAMTS17):c.*2193G>C rs886050955
NM_139057.4(ADAMTS17):c.*2196C>T
NM_139057.4(ADAMTS17):c.*221G>A
NM_139057.4(ADAMTS17):c.*2220G>A
NM_139057.4(ADAMTS17):c.*2227G>A rs8041553
NM_139057.4(ADAMTS17):c.*2228G>C
NM_139057.4(ADAMTS17):c.*2234G>C
NM_139057.4(ADAMTS17):c.*2275A>G
NM_139057.4(ADAMTS17):c.*2279G>A rs529729790
NM_139057.4(ADAMTS17):c.*2283A>G rs8025962
NM_139057.4(ADAMTS17):c.*2289A>G
NM_139057.4(ADAMTS17):c.*2290C>T
NM_139057.4(ADAMTS17):c.*2291G>A rs750700990
NM_139057.4(ADAMTS17):c.*2292C>T
NM_139057.4(ADAMTS17):c.*2305T>C
NM_139057.4(ADAMTS17):c.*2313T>C rs562633764
NM_139057.4(ADAMTS17):c.*2316C>G rs886050954
NM_139057.4(ADAMTS17):c.*2324G>A rs8041395
NM_139057.4(ADAMTS17):c.*2329T>C rs886050953
NM_139057.4(ADAMTS17):c.*2352C>G rs138578029
NM_139057.4(ADAMTS17):c.*2354C>G rs8036076
NM_139057.4(ADAMTS17):c.*2354C>T rs8036076
NM_139057.4(ADAMTS17):c.*2355G>C rs564194386
NM_139057.4(ADAMTS17):c.*2379C>T rs182417427
NM_139057.4(ADAMTS17):c.*2422C>T
NM_139057.4(ADAMTS17):c.*2425G>A
NM_139057.4(ADAMTS17):c.*2429G>A rs886050952
NM_139057.4(ADAMTS17):c.*2453C>T
NM_139057.4(ADAMTS17):c.*2472C>G
NM_139057.4(ADAMTS17):c.*2472C>T rs138099553
NM_139057.4(ADAMTS17):c.*2479C>G rs540696412
NM_139057.4(ADAMTS17):c.*2480G>A
NM_139057.4(ADAMTS17):c.*2501C>T
NM_139057.4(ADAMTS17):c.*2511A>G rs145561763
NM_139057.4(ADAMTS17):c.*2528T>C rs8037666
NM_139057.4(ADAMTS17):c.*2532G>A rs886050951
NM_139057.4(ADAMTS17):c.*2541A>G rs8041971
NM_139057.4(ADAMTS17):c.*2560T>C rs10468183
NM_139057.4(ADAMTS17):c.*2578G>A rs183671964
NM_139057.4(ADAMTS17):c.*2598T>C rs754478048
NM_139057.4(ADAMTS17):c.*2600C>T
NM_139057.4(ADAMTS17):c.*2605G>C rs191759654
NM_139057.4(ADAMTS17):c.*260C>T
NM_139057.4(ADAMTS17):c.*2616G>A
NM_139057.4(ADAMTS17):c.*261G>A rs886050970
NM_139057.4(ADAMTS17):c.*2626_*2628del rs543559051
NM_139057.4(ADAMTS17):c.*2637C>G
NM_139057.4(ADAMTS17):c.*2645C>T rs114391483
NM_139057.4(ADAMTS17):c.*2652A>T
NM_139057.4(ADAMTS17):c.*2678T>G
NM_139057.4(ADAMTS17):c.*2690G>A rs566216613
NM_139057.4(ADAMTS17):c.*2701G>C rs13329612
NM_139057.4(ADAMTS17):c.*2722G>A rs116467016
NM_139057.4(ADAMTS17):c.*2738G>C
NM_139057.4(ADAMTS17):c.*2747T>G
NM_139057.4(ADAMTS17):c.*2790C>G
NM_139057.4(ADAMTS17):c.*2878C>T rs886050950
NM_139057.4(ADAMTS17):c.*290C>A
NM_139057.4(ADAMTS17):c.*2934G>T
NM_139057.4(ADAMTS17):c.*293G>A rs886050969
NM_139057.4(ADAMTS17):c.*316T>C rs2581345
NM_139057.4(ADAMTS17):c.*359A>G rs150430121
NM_139057.4(ADAMTS17):c.*376T>G
NM_139057.4(ADAMTS17):c.*399_*412dup rs71151926
NM_139057.4(ADAMTS17):c.*419C>T
NM_139057.4(ADAMTS17):c.*420G>A rs556966662
NM_139057.4(ADAMTS17):c.*421G>C rs886050968
NM_139057.4(ADAMTS17):c.*425C>A rs574877864
NM_139057.4(ADAMTS17):c.*429A>C rs2581346
NM_139057.4(ADAMTS17):c.*439G>A rs140255903
NM_139057.4(ADAMTS17):c.*464C>T rs148258011
NM_139057.4(ADAMTS17):c.*465G>A rs886050967
NM_139057.4(ADAMTS17):c.*46C>G rs2581340
NM_139057.4(ADAMTS17):c.*474C>T
NM_139057.4(ADAMTS17):c.*481G>A
NM_139057.4(ADAMTS17):c.*486G>A rs117381111
NM_139057.4(ADAMTS17):c.*498A>C rs2573651
NM_139057.4(ADAMTS17):c.*498A>T
NM_139057.4(ADAMTS17):c.*4G>A
NM_139057.4(ADAMTS17):c.*510C>T rs2573650
NM_139057.4(ADAMTS17):c.*519T>C rs886050966
NM_139057.4(ADAMTS17):c.*544G>A rs2581348
NM_139057.4(ADAMTS17):c.*567G>A
NM_139057.4(ADAMTS17):c.*567G>C rs2573649
NM_139057.4(ADAMTS17):c.*572T>C
NM_139057.4(ADAMTS17):c.*611C>T
NM_139057.4(ADAMTS17):c.*612G>T rs574728895
NM_139057.4(ADAMTS17):c.*620T>C
NM_139057.4(ADAMTS17):c.*639G>A rs886050965
NM_139057.4(ADAMTS17):c.*671C>T rs76681073
NM_139057.4(ADAMTS17):c.*692G>C rs187035332
NM_139057.4(ADAMTS17):c.*700G>A rs60022871
NM_139057.4(ADAMTS17):c.*742C>T rs555201429
NM_139057.4(ADAMTS17):c.*743G>A rs74036641
NM_139057.4(ADAMTS17):c.*802G>A rs571008658
NM_139057.4(ADAMTS17):c.*805G>A
NM_139057.4(ADAMTS17):c.*82G>A rs3825894
NM_139057.4(ADAMTS17):c.*850C>T rs886050964
NM_139057.4(ADAMTS17):c.*856C>T rs549608045
NM_139057.4(ADAMTS17):c.*857G>A
NM_139057.4(ADAMTS17):c.*880C>T
NM_139057.4(ADAMTS17):c.*882G>C rs2581358
NM_139057.4(ADAMTS17):c.*882G>T rs2581358
NM_139057.4(ADAMTS17):c.*885A>G rs2727198
NM_139057.4(ADAMTS17):c.*900T>C rs2581359
NM_139057.4(ADAMTS17):c.*901G>A
NM_139057.4(ADAMTS17):c.*959C>T
NM_139057.4(ADAMTS17):c.*960G>A rs180868548
NM_139057.4(ADAMTS17):c.*963C>T
NM_139057.4(ADAMTS17):c.*966G>T rs886050963
NM_139057.4(ADAMTS17):c.*989G>A rs57279107
NM_139057.4(ADAMTS17):c.*99A>G
NM_139057.4(ADAMTS17):c.-19del rs150933882
NM_139057.4(ADAMTS17):c.-19dup rs150933882
NM_139057.4(ADAMTS17):c.-20G>A
NM_139057.4(ADAMTS17):c.-20G>C
NM_139057.4(ADAMTS17):c.-20G>T
NM_139057.4(ADAMTS17):c.-22G>A rs760846321
NM_139057.4(ADAMTS17):c.-37C>T
NM_139057.4(ADAMTS17):c.-4T>C rs886050984
NM_139057.4(ADAMTS17):c.-62C>A rs886050985
NM_139057.4(ADAMTS17):c.-69C>T rs534119279
NM_139057.4(ADAMTS17):c.-7G>A
NM_139057.4(ADAMTS17):c.-9C>T rs192272127
NM_139057.4(ADAMTS17):c.1008G>A (p.Val336=) rs557358714
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613
NM_139057.4(ADAMTS17):c.1030A>G (p.Arg344Gly)
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638
NM_139057.4(ADAMTS17):c.105G>A (p.Val35=)
NM_139057.4(ADAMTS17):c.1062G>A (p.Pro354=) rs145206425
NM_139057.4(ADAMTS17):c.1071T>G (p.Thr357=)
NM_139057.4(ADAMTS17):c.1075+10G>C
NM_139057.4(ADAMTS17):c.1145A>G (p.Asn382Ser) rs755587669
NM_139057.4(ADAMTS17):c.1208A>G (p.His403Arg) rs886050975
NM_139057.4(ADAMTS17):c.1220C>G (p.Ala407Gly)
NM_139057.4(ADAMTS17):c.1248G>A (p.Glu416=) rs371229459
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro) rs140930935
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=) rs559102316
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu) rs147286623
NM_139057.4(ADAMTS17):c.1322A>G (p.Lys441Arg)
NM_139057.4(ADAMTS17):c.1323-11G>A
NM_139057.4(ADAMTS17):c.1323-12C>T rs770627848
NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) rs72755233
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591
NM_139057.4(ADAMTS17):c.135C>A (p.Pro45=)
NM_139057.4(ADAMTS17):c.1385C>T (p.Pro462Leu)
NM_139057.4(ADAMTS17):c.1386G>A (p.Pro462=)
NM_139057.4(ADAMTS17):c.1398G>A (p.Pro466=) rs149252796
NM_139057.4(ADAMTS17):c.1431G>T (p.Gln477His) rs765427198
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr) rs28567966
NM_139057.4(ADAMTS17):c.1587G>A (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1587G>C (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1607C>T (p.Thr536Met)
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr) rs61754841
NM_139057.4(ADAMTS17):c.1661T>G (p.Met554Arg)
NM_139057.4(ADAMTS17):c.1682C>T (p.Thr561Met) rs140998386
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=) rs886050982
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_139057.4(ADAMTS17):c.1720C>T (p.Pro574Ser) rs200327256
NM_139057.4(ADAMTS17):c.1721+1G>A rs749116256
NM_139057.4(ADAMTS17):c.1721C>T (p.Pro574Leu)
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu)
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=) rs148939974
NM_139057.4(ADAMTS17):c.1804C>T (p.Pro602Ser) rs756454329
NM_139057.4(ADAMTS17):c.1824G>A (p.Gln608=)
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp) rs200745301
NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro) rs200371613
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=) rs34558152
NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=) rs145594305
NM_139057.4(ADAMTS17):c.1888+9A>C
NM_139057.4(ADAMTS17):c.1889-14C>T rs374520210
NM_139057.4(ADAMTS17):c.1923G>A (p.Gly641=) rs749551110
NM_139057.4(ADAMTS17):c.1947C>T (p.Ala649=)
NM_139057.4(ADAMTS17):c.1948G>C (p.Asp650His) rs145922030
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=) rs61752832
NM_139057.4(ADAMTS17):c.1971C>G (p.Pro657=) rs760290195
NM_139057.4(ADAMTS17):c.1981T>C (p.Tyr661His) rs201920741
NM_139057.4(ADAMTS17):c.2004C>T (p.His668=) rs200766799
NM_139057.4(ADAMTS17):c.2017-10G>C
NM_139057.4(ADAMTS17):c.2017-3T>C
NM_139057.4(ADAMTS17):c.2040C>T (p.Ile680=) rs150431950
NM_139057.4(ADAMTS17):c.2067C>T (p.Cys689=) rs200809221
NM_139057.4(ADAMTS17):c.2109G>A (p.Lys703=) rs139059770
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583
NM_139057.4(ADAMTS17):c.211G>T (p.Ala71Ser)
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328
NM_139057.4(ADAMTS17):c.2138-13A>G
NM_139057.4(ADAMTS17):c.214C>A (p.Pro72Thr)
NM_139057.4(ADAMTS17):c.214C>G (p.Pro72Ala)
NM_139057.4(ADAMTS17):c.2150C>T (p.Ser717Leu) rs143817747
NM_139057.4(ADAMTS17):c.2171G>A (p.Ser724Asn) rs73474408
NM_139057.4(ADAMTS17):c.224G>T (p.Arg75Leu) rs886050981
NM_139057.4(ADAMTS17):c.228C>G (p.Pro76=) rs747636994
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser)
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly) rs886050980
NM_139057.4(ADAMTS17):c.2348C>T (p.Pro783Leu)
NM_139057.4(ADAMTS17):c.2364G>A (p.Ala788=) rs146286415
NM_139057.4(ADAMTS17):c.2372A>G (p.Gln791Arg)
NM_139057.4(ADAMTS17):c.2388A>G (p.Lys796=)
NM_139057.4(ADAMTS17):c.2431G>C (p.Gly811Arg)
NM_139057.4(ADAMTS17):c.2456-1dup rs387906291
NM_139057.4(ADAMTS17):c.2462G>A (p.Arg821His)
NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=) rs61752831
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=) rs117133620
NM_139057.4(ADAMTS17):c.2518G>A (p.Asp840Asn)
NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp) rs61757475
NM_139057.4(ADAMTS17):c.2591+14T>G
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251
NM_139057.4(ADAMTS17):c.2592-10C>T rs751012843
NM_139057.4(ADAMTS17):c.2592-9G>A rs373353462
NM_139057.4(ADAMTS17):c.2592-9G>T
NM_139057.4(ADAMTS17):c.2637A>G (p.Lys879=) rs563938783
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala) rs202099735
NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=) rs149373184
NM_139057.4(ADAMTS17):c.2706C>T (p.Pro902=)
NM_139057.4(ADAMTS17):c.2731G>C (p.Ala911Pro) rs886050974
NM_139057.4(ADAMTS17):c.2733G>A (p.Ala911=)
NM_139057.4(ADAMTS17):c.2799C>T (p.Cys933=) rs146651611
NM_139057.4(ADAMTS17):c.2865C>T (p.Cys955=)
NM_139057.4(ADAMTS17):c.2877G>A (p.Thr959=)
NM_139057.4(ADAMTS17):c.2883G>A (p.Pro961=) rs550282581
NM_139057.4(ADAMTS17):c.2901C>T (p.Cys967=) rs140384823
NM_139057.4(ADAMTS17):c.2923G>A (p.Glu975Lys) rs775321973
NM_139057.4(ADAMTS17):c.2948C>T (p.Thr983Met)
NM_139057.4(ADAMTS17):c.2950-6C>T
NM_139057.4(ADAMTS17):c.3015G>A (p.Gly1005=)
NM_139057.4(ADAMTS17):c.3020A>T (p.His1007Leu)
NM_139057.4(ADAMTS17):c.3028G>A (p.Glu1010Lys) rs367651794
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379
NM_139057.4(ADAMTS17):c.3068G>A (p.Cys1023Tyr) rs144662002
NM_139057.4(ADAMTS17):c.307C>T (p.Leu103=)
NM_139057.4(ADAMTS17):c.3099C>T (p.Asn1033=)
NM_139057.4(ADAMTS17):c.3111C>A (p.Ile1037=) rs886050973
NM_139057.4(ADAMTS17):c.3121C>T (p.Arg1041Cys)
NM_139057.4(ADAMTS17):c.3127+12C>T rs200475413
NM_139057.4(ADAMTS17):c.3128-12C>T rs182634994
NM_139057.4(ADAMTS17):c.3128-6C>T
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=) rs112214202
NM_139057.4(ADAMTS17):c.3144A>G (p.Lys1048=) rs886050972
NM_139057.4(ADAMTS17):c.3164C>T (p.Thr1055Met)
NM_139057.4(ADAMTS17):c.3165G>C (p.Thr1055=) rs141373128
NM_139057.4(ADAMTS17):c.3219C>T (p.Tyr1073=) rs78682885
NM_139057.4(ADAMTS17):c.3223C>T (p.Arg1075Cys)
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652
NM_139057.4(ADAMTS17):c.3285G>A (p.Ser1095=) rs144817994
NM_139057.4(ADAMTS17):c.388C>G (p.Arg130Gly) rs886050979
NM_139057.4(ADAMTS17):c.405C>G (p.Pro135=)
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=) rs375900400
NM_139057.4(ADAMTS17):c.520A>C (p.Ser174Arg) rs761591792
NM_139057.4(ADAMTS17):c.542G>A (p.Arg181Lys)
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg)
NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys) rs754980579
NM_139057.4(ADAMTS17):c.590C>T (p.Pro197Leu)
NM_139057.4(ADAMTS17):c.616+7C>T rs886050978
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668
NM_139057.4(ADAMTS17):c.652del (p.Asp218fs) rs1555501030
NM_139057.4(ADAMTS17):c.709C>T (p.Leu237=) rs780909666
NM_139057.4(ADAMTS17):c.70C>T (p.Pro24Ser)
NM_139057.4(ADAMTS17):c.727G>A (p.Asp243Asn)
NM_139057.4(ADAMTS17):c.72G>A (p.Pro24=)
NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys) rs200673902
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640
NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter) rs267606638
NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=) rs377212581
NM_139057.4(ADAMTS17):c.789+15G>A
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614
NM_139057.4(ADAMTS17):c.789+9G>A rs377670601
NM_139057.4(ADAMTS17):c.79+3A>C
NM_139057.4(ADAMTS17):c.790-6T>C rs886050977
NM_139057.4(ADAMTS17):c.80-10C>G rs886050983
NM_139057.4(ADAMTS17):c.867A>G (p.Gln289=) rs886050976
NM_139057.4(ADAMTS17):c.873+1G>T rs1160509052
NM_139057.4(ADAMTS17):c.903G>A (p.Glu301=)
NM_139057.4(ADAMTS17):c.944A>T (p.Tyr315Phe)
NM_139057.4(ADAMTS17):c.998C>T (p.Pro333Leu) rs771992023
NM_152295.4(TARS1):c.1912C>T (p.Arg638Ter) rs749888012
NM_152295.4(TARS1):c.680T>C (p.Leu227Pro) rs1579584983
NM_152295.4(TARS1):c.826A>G (p.Lys276Glu) rs1579585658
NM_182760.4(SUMF1):c.*10A>G rs35083095
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_182760.4(SUMF1):c.*140C>T
NM_182760.4(SUMF1):c.*150G>A
NM_182760.4(SUMF1):c.*152C>G rs560350613
NM_182760.4(SUMF1):c.*189G>A
NM_182760.4(SUMF1):c.*210C>T
NM_182760.4(SUMF1):c.*214A>G rs2819562
NM_182760.4(SUMF1):c.*218T>C rs532640038
NM_182760.4(SUMF1):c.*279C>T
NM_182760.4(SUMF1):c.*291G>A rs4685744
NM_182760.4(SUMF1):c.*292T>A rs74979662
NM_182760.4(SUMF1):c.*297C>T
NM_182760.4(SUMF1):c.*305C>G
NM_182760.4(SUMF1):c.*396C>G
NM_182760.4(SUMF1):c.*398C>T rs116909525
NM_182760.4(SUMF1):c.*445A>G rs114640216
NM_182760.4(SUMF1):c.*460_*463del rs71873849
NM_182760.4(SUMF1):c.*463G>T
NM_182760.4(SUMF1):c.*471T>G rs2259818
NM_182760.4(SUMF1):c.*496del rs886058516
NM_182760.4(SUMF1):c.*518T>C rs17040504
NM_182760.4(SUMF1):c.*548T>C rs185598903
NM_182760.4(SUMF1):c.*552T>G rs10514655
NM_182760.4(SUMF1):c.*568G>A rs73022033
NM_182760.4(SUMF1):c.*568G>C
NM_182760.4(SUMF1):c.*578C>G rs886058515
NM_182760.4(SUMF1):c.*61T>C rs2819561
NM_182760.4(SUMF1):c.*639T>C rs886058514
NM_182760.4(SUMF1):c.*675A>C rs14275
NM_182760.4(SUMF1):c.*67A>T
NM_182760.4(SUMF1):c.*692A>G rs886058513
NM_182760.4(SUMF1):c.*7A>G
NM_182760.4(SUMF1):c.*805C>T rs79031951
NM_182760.4(SUMF1):c.*809C>T rs886058512
NM_182760.4(SUMF1):c.*819G>A rs886058511
NM_182760.4(SUMF1):c.*820C>T
NM_182760.4(SUMF1):c.*821G>A
NM_182760.4(SUMF1):c.*828G>A
NM_182760.4(SUMF1):c.*836C>G rs140229372
NM_182760.4(SUMF1):c.*874C>T rs145484019
NM_182760.4(SUMF1):c.*917G>T rs116661242
NM_182760.4(SUMF1):c.*92A>G
NM_182760.4(SUMF1):c.*948C>G
NM_182760.4(SUMF1):c.*948C>T
NM_182760.4(SUMF1):c.*949G>A rs575414528
NM_182760.4(SUMF1):c.*953C>T
NM_182760.4(SUMF1):c.*95C>T
NM_182760.4(SUMF1):c.*976A>G rs886058510
NM_182760.4(SUMF1):c.*982G>A
NM_182760.4(SUMF1):c.-9C>T rs148200251
NM_182760.4(SUMF1):c.1002C>T (p.Tyr334=)
NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg) rs137852848
NM_182760.4(SUMF1):c.1014+12C>T
NM_182760.4(SUMF1):c.1014+7C>T
NM_182760.4(SUMF1):c.1014+9T>C
NM_182760.4(SUMF1):c.1015-10C>G
NM_182760.4(SUMF1):c.1015-10C>T
NM_182760.4(SUMF1):c.1015-3_1015-2del
NM_182760.4(SUMF1):c.1015-4A>G
NM_182760.4(SUMF1):c.1015-5C>T
NM_182760.4(SUMF1):c.1015-8C>T rs886058517
NM_182760.4(SUMF1):c.102C>T (p.Ser34=)
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys) rs137852852
NM_182760.4(SUMF1):c.1040del (p.Ala347fs)
NM_182760.4(SUMF1):c.1042G>C (p.Ala348Pro) rs137852853
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln) rs137852847
NM_182760.4(SUMF1):c.1065T>C (p.Asp355=)
NM_182760.4(SUMF1):c.1076C>A (p.Ser359Ter) rs137852844
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492
NM_182760.4(SUMF1):c.1083G>C (p.Leu361=)
NM_182760.4(SUMF1):c.1091G>A (p.Arg364His)
NM_182760.4(SUMF1):c.1107C>T (p.Arg369=)
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852
NM_182760.4(SUMF1):c.117C>T (p.Thr39=)
NM_182760.4(SUMF1):c.128C>T (p.Ala43Val) rs200789939
NM_182760.4(SUMF1):c.129G>C (p.Ala43=) rs1235708576
NM_182760.4(SUMF1):c.12C>T (p.Pro4=)
NM_182760.4(SUMF1):c.13G>A (p.Ala5Thr)
NM_182760.4(SUMF1):c.140C>G (p.Ala47Gly) rs779961693
NM_182760.4(SUMF1):c.147T>C (p.Ser49=)
NM_182760.4(SUMF1):c.168G>A (p.Gln56=) rs1575266526
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_182760.4(SUMF1):c.177C>T (p.Gly59=) rs774739457
NM_182760.4(SUMF1):c.179C>T (p.Ala60Val) rs886058521
NM_182760.4(SUMF1):c.180C>T (p.Ala60=)
NM_182760.4(SUMF1):c.183T>C (p.His61=)
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590
NM_182760.4(SUMF1):c.18A>G (p.Leu6=)
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)
NM_182760.4(SUMF1):c.191del (p.Ser64fs)
NM_182760.4(SUMF1):c.192G>C (p.Ser64=)
NM_182760.4(SUMF1):c.1A>G (p.Met1Val) rs137852855
NM_182760.4(SUMF1):c.210C>T (p.Tyr70=)
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297
NM_182760.4(SUMF1):c.216G>A (p.Arg72=)
NM_182760.4(SUMF1):c.234C>A (p.Gly78=) rs763565087
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)
NM_182760.4(SUMF1):c.243C>G (p.Pro81=)
NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter) rs986500427
NM_182760.4(SUMF1):c.251G>A (p.Arg84Gln) rs762094231
NM_182760.4(SUMF1):c.258C>A (p.Leu86=)
NM_182760.4(SUMF1):c.25_270+3del rs1575266004
NM_182760.4(SUMF1):c.263A>C (p.His88Pro) rs768876680
NM_182760.4(SUMF1):c.266C>G (p.Ser89Ter) rs1575266034
NM_182760.4(SUMF1):c.266del (p.His88_Ser89insTer)
NM_182760.4(SUMF1):c.270+10C>G
NM_182760.4(SUMF1):c.270+1del
NM_182760.4(SUMF1):c.271-7A>G rs371283922
NM_182760.4(SUMF1):c.276C>A (p.Val92=)
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg)
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851
NM_182760.4(SUMF1):c.306C>T (p.Gly102=)
NM_182760.4(SUMF1):c.30T>C (p.Cys10=)
NM_182760.4(SUMF1):c.324A>T (p.Ile108=)
NM_182760.4(SUMF1):c.337G>A (p.Glu113Lys) rs1085307107
NM_182760.4(SUMF1):c.339dup (p.Ala114fs)
NM_182760.4(SUMF1):c.348G>A (p.Ala116=)
NM_182760.4(SUMF1):c.362T>C (p.Ile121Thr)
NM_182760.4(SUMF1):c.369C>A (p.Ala123=)
NM_182760.4(SUMF1):c.392T>G (p.Val131Gly)
NM_182760.4(SUMF1):c.405A>G (p.Glu135=)
NM_182760.4(SUMF1):c.426A>C (p.Ser142=)
NM_182760.4(SUMF1):c.432C>T (p.Gly144=)
NM_182760.4(SUMF1):c.434A>G (p.Tyr145Cys) rs886058520
NM_182760.4(SUMF1):c.43G>T (p.Glu15Ter)
NM_182760.4(SUMF1):c.444+10T>C
NM_182760.4(SUMF1):c.444+4A>C
NM_182760.4(SUMF1):c.445-102T>C
NM_182760.4(SUMF1):c.445-1G>A
NM_182760.4(SUMF1):c.445-8C>T
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)
NM_182760.4(SUMF1):c.450G>A (p.Glu150=)
NM_182760.4(SUMF1):c.451A>T (p.Lys151Ter)
NM_182760.4(SUMF1):c.45G>A (p.Glu15=)
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.464C>G (p.Ser155Cys)
NM_182760.4(SUMF1):c.482T>C (p.Met161Thr)
NM_182760.4(SUMF1):c.483G>T (p.Met161Ile)
NM_182760.4(SUMF1):c.484T>C (p.Leu162=)
NM_182760.4(SUMF1):c.48G>C (p.Leu16=)
NM_182760.4(SUMF1):c.491A>T (p.Glu164Val) rs886058519
NM_182760.4(SUMF1):c.510T>C (p.Ile170=)
NM_182760.4(SUMF1):c.511C>T (p.Gln171Ter)
NM_182760.4(SUMF1):c.519+5_519+8del rs775324176
NM_182760.4(SUMF1):c.519+7A>T
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361
NM_182760.4(SUMF1):c.525A>G (p.Ala175=)
NM_182760.4(SUMF1):c.528T>C (p.Ala176=) rs138269123
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter) rs1553575867
NM_182760.4(SUMF1):c.570C>T (p.His190=)
NM_182760.4(SUMF1):c.571C>A (p.Pro191Thr)
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963
NM_182760.4(SUMF1):c.59T>G (p.Leu20Arg) rs79985808
NM_182760.4(SUMF1):c.602+10G>T
NM_182760.4(SUMF1):c.602+12C>T rs200971871
NM_182760.4(SUMF1):c.602+13C>T rs80204284
NM_182760.4(SUMF1):c.602+1G>A
NM_182760.4(SUMF1):c.602+50G>A rs711666
NM_182760.4(SUMF1):c.602+7C>G
NM_182760.4(SUMF1):c.603-1G>C
NM_182760.4(SUMF1):c.603-5C>T
NM_182760.4(SUMF1):c.603-9C>T
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829
NM_182760.4(SUMF1):c.621C>T (p.Leu207=)
NM_182760.4(SUMF1):c.624T>C (p.His208=)
NM_182760.4(SUMF1):c.626T>C (p.Val209Ala)
NM_182760.4(SUMF1):c.627G>A (p.Val209=)
NM_182760.4(SUMF1):c.627G>C (p.Val209=) rs748118171
NM_182760.4(SUMF1):c.630C>T (p.Ser210=)
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221
NM_182760.4(SUMF1):c.648C>G (p.Ala216=) rs1470203634
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr) rs137852854
NM_182760.4(SUMF1):c.659G>A (p.Trp220Ter) rs1575197564
NM_182760.4(SUMF1):c.661del (p.Ala221fs) rs770241913
NM_182760.4(SUMF1):c.663A>C (p.Ala221=)
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233
NM_182760.4(SUMF1):c.675G>A (p.Leu225=)
NM_182760.4(SUMF1):c.675G>T (p.Leu225=)
NM_182760.4(SUMF1):c.681G>A (p.Thr227=)
NM_182760.4(SUMF1):c.684A>G (p.Glu228=)
NM_182760.4(SUMF1):c.691dup (p.Trp231fs)
NM_182760.4(SUMF1):c.715C>T (p.Leu239=) rs779864102
NM_182760.4(SUMF1):c.722A>G (p.Asn241Ser) rs138045351
NM_182760.4(SUMF1):c.726-10C>T
NM_182760.4(SUMF1):c.726-14G>T
NM_182760.4(SUMF1):c.726-1G>A
NM_182760.4(SUMF1):c.726-1G>C
NM_182760.4(SUMF1):c.726-1_726del rs1575196325
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
NM_182760.4(SUMF1):c.748C>T (p.Leu250=)
NM_182760.4(SUMF1):c.750G>A (p.Leu250=)
NM_182760.4(SUMF1):c.75C>T (p.Leu25=)
NM_182760.4(SUMF1):c.762C>A (p.Gly254=)
NM_182760.4(SUMF1):c.765G>A (p.Gln255=)
NM_182760.4(SUMF1):c.77C>T (p.Ser26Leu) rs759963054
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_182760.4(SUMF1):c.788G>T (p.Gly263Val) rs387906976
NM_182760.4(SUMF1):c.78G>A (p.Ser26=)
NM_182760.4(SUMF1):c.798G>A (p.Pro266=)
NM_182760.4(SUMF1):c.801G>C (p.Val267=)
NM_182760.4(SUMF1):c.801G>T (p.Val267=)
NM_182760.4(SUMF1):c.802A>G (p.Thr268Ala)
NM_182760.4(SUMF1):c.803C>T (p.Thr268Ile)
NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly)
NM_182760.4(SUMF1):c.825C>T (p.Phe275=) rs780668525
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_182760.4(SUMF1):c.837G>A (p.Ala279=) rs150925824
NM_182760.4(SUMF1):c.841-14G>A rs9852367
NM_182760.4(SUMF1):c.841-6T>C
NM_182760.4(SUMF1):c.841-75C>T rs813811
NM_182760.4(SUMF1):c.843T>C (p.Val281=)
NM_182760.4(SUMF1):c.849C>T (p.Ala283=)
NM_182760.4(SUMF1):c.84G>T (p.Leu28=)
NM_182760.4(SUMF1):c.873A>G (p.Leu291=)
NM_182760.4(SUMF1):c.875A>G (p.Tyr292Cys) rs148841895
NM_182760.4(SUMF1):c.890A>C (p.Asn297Thr) rs749715515
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187
NM_182760.4(SUMF1):c.932C>T (p.Ser311Phe)
NM_182760.4(SUMF1):c.954+1G>T
NM_182760.4(SUMF1):c.954+7A>G rs560003466
NM_182760.4(SUMF1):c.955-6C>G rs886058518
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940
NM_182760.4(SUMF1):c.966T>C (p.Pro322=)
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845
NM_182760.4(SUMF1):c.999C>G (p.Ser333=)
NM_182760.4(SUMF1):c.9G>A (p.Ala3=) rs755989487
NM_207118.2(GTF2H5):c.166C>T (p.Arg56Ter) rs121434364
NM_207118.2(GTF2H5):c.36-2A>G rs765378190
NM_207118.2(GTF2H5):c.62T>C (p.Leu21Pro) rs121434365
NM_207118.3(GTF2H5):c.116A>T (p.Asp39Val)
NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter)
NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys)
NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter)
SNAP29, 1-BP DEL, 220G
SUMF1, 1-BP DEL, 243C
SUMF1, 1-BP DEL, 276C

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