ClinVar Miner

List of variants reported as uncertain significance for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1130
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HGVS dbSNP
NC_000005.10:g.(?_148086385)_(148116486_?)dup
NC_000005.10:g.(?_148136963)_(148137011_?)del
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
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_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000157.4(GBA):c.1316G>A (p.Ser439Asn) rs1571966221
NM_000157.4(GBA):c.1389-33del
NM_000157.4(GBA):c.145G>A (p.Gly49Ser)
NM_000157.4(GBA):c.34C>T (p.Pro12Ser)
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.*124A>G
NM_000288.4(PEX7):c.*223T>A
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.*367T>C rs886061124
NM_000288.4(PEX7):c.-18C>T
NM_000288.4(PEX7):c.-28G>A rs376808803
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-69C>A
NM_000288.4(PEX7):c.115C>A (p.His39Asn)
NM_000288.4(PEX7):c.116A>G (p.His39Arg)
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg)
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
NM_000288.4(PEX7):c.129G>C (p.Ala43=)
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.17G>C (p.Gly6Ala)
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.244G>A (p.Val82Ile)
NM_000288.4(PEX7):c.290C>G (p.Thr97Ser)
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg)
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr)
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.346_348del (p.Ser116del)
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg)
NM_000288.4(PEX7):c.418-3T>C
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn)
NM_000288.4(PEX7):c.46G>C (p.Gly16Arg)
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)
NM_000288.4(PEX7):c.534G>C (p.Gln178His) rs746010906
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser)
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu)
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421
NM_000288.4(PEX7):c.748-10T>C rs886061122
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)
NM_000288.4(PEX7):c.804-5C>T rs369653173
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe)
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_000288.4(PEX7):c.904-4C>G
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.961A>G (p.Ile321Val) rs879706210
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp)
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg)
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.*1258A>C
NM_000382.3(ALDH3A2):c.*1314T>C
NM_000382.3(ALDH3A2):c.*1452C>G
NM_000382.3(ALDH3A2):c.*1600C>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.*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.*330T>C
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.*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.-11A>G
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.1021C>G (p.Pro341Ala) rs140519419
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.1254T>C (p.Thr418=)
NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)
NM_000382.3(ALDH3A2):c.1347T>C (p.Asp449=)
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+1273_1443+1275delinsGG
NM_000382.3(ALDH3A2):c.1444-4C>T
NM_000382.3(ALDH3A2):c.255GAA[1] (p.Lys86del)
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.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.378C>T (p.Ile126=) rs1555532936
NM_000382.3(ALDH3A2):c.401T>C (p.Ile134Thr)
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435
NM_000382.3(ALDH3A2):c.566T>C (p.Val189Ala)
NM_000382.3(ALDH3A2):c.605C>A (p.Thr202Asn)
NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=) rs140649688
NM_000382.3(ALDH3A2):c.680G>A (p.Arg227Lys)
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His) rs866392702
NM_000382.3(ALDH3A2):c.786G>A (p.Lys262=)
NM_000382.3(ALDH3A2):c.799-6A>G
NM_000382.3(ALDH3A2):c.86C>T (p.Ala29Val)
NM_000382.3(ALDH3A2):c.87C>G (p.Ala29=)
NM_000382.3(ALDH3A2):c.918T>C (p.Thr306=)
NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)
NM_000382.3(ALDH3A2):c.957C>T (p.Thr319=) rs886052690
NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn)
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.1887G>C (p.Gln629His) rs200665173
NM_000400.3(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150
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.553C>T (p.Arg185Trp)
NM_000400.4(ERCC2):c.595-10G>A
NM_001127698.2(SPINK5):c.1188_1189inv (p.Gly397Ser)
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
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_001289148.1(VPS33B):c.*346A>T
NM_001323082.1(PHYH):c.-78G>T rs886046832
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_004004.6(GJB2):c.*1040A>G
NM_004004.6(GJB2):c.*114T>C rs182085649
NM_004004.6(GJB2):c.*115A>C
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
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.*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.*800A>G rs886050027
NM_004004.6(GJB2):c.*979A>G rs546826225
NM_004004.6(GJB2):c.-170C>G
NM_004004.6(GJB2):c.-1G>A
NM_004004.6(GJB2):c.-45C>A rs397516868
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.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly)
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.557C>T (p.Thr186Met)
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004782.4(SNAP29):c.*1061C>T rs557600796
NM_004782.4(SNAP29):c.*1174C>T
NM_004782.4(SNAP29):c.*1315C>G rs41277337
NM_004782.4(SNAP29):c.*1437T>C
NM_004782.4(SNAP29):c.*1438G>A
NM_004782.4(SNAP29):c.*1543A>C rs9613204
NM_004782.4(SNAP29):c.*1570T>C rs534348201
NM_004782.4(SNAP29):c.*1589T>C rs530035476
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.*210A>C
NM_004782.4(SNAP29):c.*2111G>T rs551094177
NM_004782.4(SNAP29):c.*2121dup rs886057272
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.*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.*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.*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.*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.*2868A>G
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.*3014C>T
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.*3268T>C
NM_004782.4(SNAP29):c.*3283T>G
NM_004782.4(SNAP29):c.*3284G>T
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.*590T>C
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.*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.-40T>G rs886057263
NM_004782.4(SNAP29):c.-58C>A
NM_004782.4(SNAP29):c.-60G>A
NM_004782.4(SNAP29):c.-70_-69del rs886057262
NM_004782.4(SNAP29):c.-76G>A rs376809644
NM_004782.4(SNAP29):c.-93G>T
NM_004782.4(SNAP29):c.199A>G (p.Met67Val)
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.354dup (p.Leu119fs) rs751575036
NM_004782.4(SNAP29):c.435-3A>G
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_006214.4(PHYH):c.*188A>C
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.*499C>T
NM_006214.4(PHYH):c.-20G>C rs546291238
NM_006214.4(PHYH):c.1009A>G (p.Asn337Asp) rs758218321
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>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.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.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.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.792C>T (p.His264=) rs372047384
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.93A>C (p.Ser31=) rs202198596
NM_006214.4(PHYH):c.948T>C (p.Asn316=)
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr)
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
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.802C>T (p.Arg268Trp)
NM_006623.4(PHGDH):c.910G>A (p.Val304Met)
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058
NM_006846.3(SPINK5):c.*229A>C rs759149324
NM_006846.3(SPINK5):c.*358A>G rs527953668
NM_006846.3(SPINK5):c.*78A>G rs774183421
NM_006846.3(SPINK5):c.-10C>T rs778902700
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.1282A>G (p.Lys428Glu) rs1428055248
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.1499G>A (p.Arg500Gln) rs201428589
NM_006846.3(SPINK5):c.1526T>C (p.Ile509Thr) rs1268068282
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.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.1820+11G>A rs796478719
NM_006846.3(SPINK5):c.1825C>A (p.Gln609Lys) rs1366194827
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.1907G>A (p.Arg636Gln) rs758747211
NM_006846.3(SPINK5):c.1960C>T (p.Arg654Cys) rs199567491
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.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.2419T>G (p.Cys807Gly) rs201815688
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.2666+4C>T rs376671081
NM_006846.3(SPINK5):c.2736A>G (p.Ala912=) rs773053071
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.2939A>G (p.Asp980Gly) rs778193022
NM_006846.3(SPINK5):c.2963T>C (p.Leu988Pro) rs553107767
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.341A>G (p.Tyr114Cys) rs764853169
NM_006846.3(SPINK5):c.418G>A (p.Gly140Arg) rs573158320
NM_006846.3(SPINK5):c.524G>A (p.Cys175Tyr) rs1279742014
NM_006846.3(SPINK5):c.551G>A (p.Gly184Asp) rs201812473
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.677A>G (p.Lys226Arg) rs370010334
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.803G>A (p.Arg268His) rs375727921
NM_006846.3(SPINK5):c.834A>C (p.Gln278His) rs201354872
NM_006846.4(SPINK5):c.*301C>T
NM_006846.4(SPINK5):c.*90G>A
NM_006846.4(SPINK5):c.1039G>C (p.Ala347Pro)
NM_006846.4(SPINK5):c.1055G>T (p.Arg352Ile)
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.1129G>A (p.Gly377Arg)
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) rs180696183
NM_006846.4(SPINK5):c.1205T>C (p.Met402Thr)
NM_006846.4(SPINK5):c.1216TTC[1] (p.Phe407del)
NM_006846.4(SPINK5):c.1221-5T>C
NM_006846.4(SPINK5):c.1221C>T (p.Phe407=)
NM_006846.4(SPINK5):c.122A>C (p.Lys41Thr)
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.1384G>A (p.Asp462Asn)
NM_006846.4(SPINK5):c.1386T>A (p.Asp462Glu)
NM_006846.4(SPINK5):c.1438GAA[1] (p.Glu481del)
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753
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.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.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.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.1772T>C (p.Leu591Pro)
NM_006846.4(SPINK5):c.1774G>C (p.Asp592His)
NM_006846.4(SPINK5):c.178A>G (p.Ile60Val)
NM_006846.4(SPINK5):c.182A>G (p.Asn61Ser)
NM_006846.4(SPINK5):c.1832C>T (p.Ala611Val)
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.1961G>A (p.Arg654His)
NM_006846.4(SPINK5):c.19T>C (p.Ser7Pro)
NM_006846.4(SPINK5):c.2072C>T (p.Ala691Val)
NM_006846.4(SPINK5):c.209+3G>A
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile)
NM_006846.4(SPINK5):c.211G>A (p.Glu71Lys)
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.2208CAA[1] (p.Asn738del) rs781321238
NM_006846.4(SPINK5):c.2209A>G (p.Asn737Asp)
NM_006846.4(SPINK5):c.2261A>G (p.Lys754Arg)
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile)
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.2426T>C (p.Met809Thr)
NM_006846.4(SPINK5):c.2447G>A (p.Arg816Lys)
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006846.4(SPINK5):c.2548C>T (p.Arg850Cys)
NM_006846.4(SPINK5):c.2594G>C (p.Arg865Thr)
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.2672G>A (p.Arg891Gln)
NM_006846.4(SPINK5):c.2678C>G (p.Ala893Gly)
NM_006846.4(SPINK5):c.2697A>C (p.Lys899Asn)
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.2825G>A (p.Gly942Glu)
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.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.3043G>A (p.Gly1015Ser)
NM_006846.4(SPINK5):c.3049G>A (p.Asp1017Asn)
NM_006846.4(SPINK5):c.3066C>A (p.Asn1022Lys)
NM_006846.4(SPINK5):c.3166G>A (p.Ala1056Thr)
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.3190G>A (p.Glu1064Lys)
NM_006846.4(SPINK5):c.359G>A (p.Gly120Asp)
NM_006846.4(SPINK5):c.382A>T (p.Asn128Tyr)
NM_006846.4(SPINK5):c.426A>C (p.Gln142His)
NM_006846.4(SPINK5):c.452G>A (p.Cys151Tyr)
NM_006846.4(SPINK5):c.464A>G (p.Asn155Ser)
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) rs574656084
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.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.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.666G>T (p.Lys222Asn)
NM_006846.4(SPINK5):c.719C>G (p.Thr240Arg)
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.80A>G (p.Gln27Arg)
NM_006846.4(SPINK5):c.81+3T>C
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe)
NM_006846.4(SPINK5):c.85A>G (p.Met29Val)
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn)
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.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.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.-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.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.1165C>T (p.Arg389Trp) rs758129067
NM_014908.3(DOLK):c.1166G>A (p.Arg389Gln) rs201984428
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.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.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.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.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.513T>C (p.Leu171=) rs886063514
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.873C>T (p.Leu291=) rs148646968
NM_014908.3(DOLK):c.898C>T (p.Leu300Phe) rs371529625
NM_014908.3(DOLK):c.914C>G (p.Ser305Cys) rs766759178
NM_014908.3(DOLK):c.931G>T (p.Ala311Ser) rs1554826773
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe) rs1554826767
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.1006G>A (p.Ala336Thr)
NM_014908.4(DOLK):c.1009C>G (p.Arg337Gly)
NM_014908.4(DOLK):c.1058T>C (p.Ile353Thr)
NM_014908.4(DOLK):c.1065C>G (p.Asp355Glu)
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys)
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala)
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.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.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.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.1381A>G (p.Met461Val)
NM_014908.4(DOLK):c.1394G>A (p.Arg465His) rs148930043
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.1437T>C (p.Ser479=) rs574290806
NM_014908.4(DOLK):c.1490T>C (p.Val497Ala)
NM_014908.4(DOLK):c.1528A>G (p.Ile510Val)
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr)
NM_014908.4(DOLK):c.172T>G (p.Tyr58Asp)
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.203G>T (p.Ser68Ile)
NM_014908.4(DOLK):c.216G>T (p.Gln72His)
NM_014908.4(DOLK):c.248C>T (p.Pro83Leu)
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.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.34C>A (p.Pro12Thr)
NM_014908.4(DOLK):c.385G>T (p.Ala129Ser)
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe)
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) rs377064301
NM_014908.4(DOLK):c.463A>T (p.Met155Leu)
NM_014908.4(DOLK):c.489G>T (p.Glu163Asp)
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.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.758G>C (p.Trp253Ser)
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.8G>A (p.Arg3Gln)
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys)
NM_014908.4(DOLK):c.977A>T (p.Glu326Val)
NM_015354.3(NUP188):c.-6G>A rs201511915
NM_015354.3(NUP188):c.8C>T (p.Ala3Val) rs746695959
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.*1201G>A rs886058490
NM_016006.6(ABHD5):c.*125A>T rs752632573
NM_016006.6(ABHD5):c.*1265A>G rs886058491
NM_016006.6(ABHD5):c.*1371A>G rs886058492
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.*1729T>G rs139091067
NM_016006.6(ABHD5):c.*1860del rs571429944
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.*2206G>A
NM_016006.6(ABHD5):c.*227T>C
NM_016006.6(ABHD5):c.*2304G>T rs886058498
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.*2492C>T
NM_016006.6(ABHD5):c.*2500A>G
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.*2926G>A rs187702555
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.*3289_*3292ACAG[1] rs542283317
NM_016006.6(ABHD5):c.*3292G>A
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.*392T>G
NM_016006.6(ABHD5):c.*4188A>C
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.-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.201G>C (p.Lys67Asn)
NM_016006.6(ABHD5):c.228T>G (p.Thr76=) rs377718797
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.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.48-4C>G rs183345998
NM_016006.6(ABHD5):c.640C>A (p.Leu214Ile) rs540791910
NM_016006.6(ABHD5):c.662-10T>G rs372889561
NM_016006.6(ABHD5):c.806C>T (p.Pro269Leu) rs773285310
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.961-15C>T
NM_016006.6(ABHD5):c.984T>C (p.Tyr328=)
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.-299T>G rs773762275
NM_018668.4(VPS33B):c.-335C>T rs886051558
NM_018668.4(VPS33B):c.1105+10G>A rs370555380
NM_018668.4(VPS33B):c.1148T>C (p.Ile383Thr) rs149121639
NM_018668.4(VPS33B):c.1192C>T (p.Arg398Cys) rs943813904
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.1591C>T (p.Arg531Trp) rs758814929
NM_018668.4(VPS33B):c.1685G>A (p.Ser562Asn) rs566630364
NM_018668.4(VPS33B):c.240-9C>T rs781107857
NM_018668.4(VPS33B):c.404-14C>G rs886051556
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.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_018668.5(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.1165C>T (p.Arg389Trp)
NM_018668.5(VPS33B):c.1171-6A>G rs370691219
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.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.572C>G (p.Pro191Arg)
NM_018668.5(VPS33B):c.888T>C (p.Asn296=)
NM_018668.5(VPS33B):c.916C>T (p.Arg306Trp)
NM_022067.4(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157
NM_022067.4(VIPAS39):c.494G>A (p.Arg165Gln) rs376797384
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494
NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly)
NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp)
NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val) rs1057517807
NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr)
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile)
NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg) rs1564013551
NM_058179.4(PSAT1):c.420G>T (p.Trp140Cys)
NM_058179.4(PSAT1):c.481G>A (p.Glu161Lys)
NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro)
NM_058179.4(PSAT1):c.794C>T (p.Ala265Val)
NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser)
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile) rs200049723
NM_058179.4(PSAT1):c.955dup (p.Arg319fs)
NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile) rs778910338
NM_138701.4(MPLKIP):c.49G>A (p.Gly17Ser)
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.*111C>T rs886050971
NM_139057.4(ADAMTS17):c.*1127C>T
NM_139057.4(ADAMTS17):c.*1130C>T rs377343119
NM_139057.4(ADAMTS17):c.*1213G>C
NM_139057.4(ADAMTS17):c.*1218T>C rs886050958
NM_139057.4(ADAMTS17):c.*1278A>G
NM_139057.4(ADAMTS17):c.*1288C>T
NM_139057.4(ADAMTS17):c.*1348dup rs545574106
NM_139057.4(ADAMTS17):c.*1431_*1433TCC[1] rs757487035
NM_139057.4(ADAMTS17):c.*1448C>T rs188903672
NM_139057.4(ADAMTS17):c.*1507G>A
NM_139057.4(ADAMTS17):c.*1600C>T rs185290147
NM_139057.4(ADAMTS17):c.*1642G>A
NM_139057.4(ADAMTS17):c.*1684C>T
NM_139057.4(ADAMTS17):c.*1685G>A
NM_139057.4(ADAMTS17):c.*1708G>C
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.*1780G>A rs886050957
NM_139057.4(ADAMTS17):c.*181C>T
NM_139057.4(ADAMTS17):c.*1899del rs138786481
NM_139057.4(ADAMTS17):c.*200G>A
NM_139057.4(ADAMTS17):c.*2013T>A
NM_139057.4(ADAMTS17):c.*2015T>C
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.*2172T>C
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.*2234G>C
NM_139057.4(ADAMTS17):c.*2275A>G
NM_139057.4(ADAMTS17):c.*2279G>A rs529729790
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.*2316C>G rs886050954
NM_139057.4(ADAMTS17):c.*2329T>C rs886050953
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.*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.*2532G>A rs886050951
NM_139057.4(ADAMTS17):c.*2598T>C rs754478048
NM_139057.4(ADAMTS17):c.*2600C>T
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.*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.*2738G>C
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.*359A>G rs150430121
NM_139057.4(ADAMTS17):c.*376T>G
NM_139057.4(ADAMTS17):c.*419C>T
NM_139057.4(ADAMTS17):c.*421G>C rs886050968
NM_139057.4(ADAMTS17):c.*464C>T rs148258011
NM_139057.4(ADAMTS17):c.*465G>A rs886050967
NM_139057.4(ADAMTS17):c.*481G>A
NM_139057.4(ADAMTS17):c.*498A>T
NM_139057.4(ADAMTS17):c.*4G>A
NM_139057.4(ADAMTS17):c.*519T>C rs886050966
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.*742C>T rs555201429
NM_139057.4(ADAMTS17):c.*802G>A rs571008658
NM_139057.4(ADAMTS17):c.*805G>A
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.*901G>A
NM_139057.4(ADAMTS17):c.*963C>T
NM_139057.4(ADAMTS17):c.*966G>T rs886050963
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.-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.1008G>A (p.Val336=) rs557358714
NM_139057.4(ADAMTS17):c.1030A>G (p.Arg344Gly)
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.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.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.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.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.1720C>T (p.Pro574Ser) rs200327256
NM_139057.4(ADAMTS17):c.1721C>T (p.Pro574Leu)
NM_139057.4(ADAMTS17):c.1804C>T (p.Pro602Ser) rs756454329
NM_139057.4(ADAMTS17):c.1824G>A (p.Gln608=)
NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro) rs200371613
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.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.211G>T (p.Ala71Ser)
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.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.2462G>A (p.Arg821His)
NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp) rs61757475
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.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.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.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.3223C>T (p.Arg1075Cys)
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.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.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.777C>T (p.Thr259=) rs377212581
NM_139057.4(ADAMTS17):c.789+15G>A
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.903G>A (p.Glu301=)
NM_139057.4(ADAMTS17):c.944A>T (p.Tyr315Phe)
NM_139057.4(ADAMTS17):c.998C>T (p.Pro333Leu) rs771992023
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.*218T>C rs532640038
NM_182760.4(SUMF1):c.*279C>T
NM_182760.4(SUMF1):c.*297C>T
NM_182760.4(SUMF1):c.*305C>G
NM_182760.4(SUMF1):c.*463G>T
NM_182760.4(SUMF1):c.*496del rs886058516
NM_182760.4(SUMF1):c.*548T>C rs185598903
NM_182760.4(SUMF1):c.*568G>C
NM_182760.4(SUMF1):c.*578C>G rs886058515
NM_182760.4(SUMF1):c.*639T>C rs886058514
NM_182760.4(SUMF1):c.*67A>T
NM_182760.4(SUMF1):c.*692A>G rs886058513
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.*874C>T rs145484019
NM_182760.4(SUMF1):c.*948C>G
NM_182760.4(SUMF1):c.*948C>T
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.1014+12C>T
NM_182760.4(SUMF1):c.1015-8C>T rs886058517
NM_182760.4(SUMF1):c.1091G>A (p.Arg364His)
NM_182760.4(SUMF1):c.13G>A (p.Ala5Thr)
NM_182760.4(SUMF1):c.140C>G (p.Ala47Gly) rs779961693
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.211T>C (p.Ser71Pro) rs201984297
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)
NM_182760.4(SUMF1):c.251G>A (p.Arg84Gln) rs762094231
NM_182760.4(SUMF1):c.263A>C (p.His88Pro) rs768876680
NM_182760.4(SUMF1):c.271-7A>G rs371283922
NM_182760.4(SUMF1):c.306C>T (p.Gly102=)
NM_182760.4(SUMF1):c.30T>C (p.Cys10=)
NM_182760.4(SUMF1):c.362T>C (p.Ile121Thr)
NM_182760.4(SUMF1):c.434A>G (p.Tyr145Cys) rs886058520
NM_182760.4(SUMF1):c.444+4A>C
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)
NM_182760.4(SUMF1):c.45G>A (p.Glu15=)
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.491A>T (p.Glu164Val) rs886058519
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361
NM_182760.4(SUMF1):c.571C>A (p.Pro191Thr)
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963
NM_182760.4(SUMF1):c.602+10G>T
NM_182760.4(SUMF1):c.602+12C>T rs200971871
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829
NM_182760.4(SUMF1):c.626T>C (p.Val209Ala)
NM_182760.4(SUMF1):c.627G>C (p.Val209=) rs748118171
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233
NM_182760.4(SUMF1):c.715C>T (p.Leu239=) rs779864102
NM_182760.4(SUMF1):c.726-14G>T
NM_182760.4(SUMF1):c.77C>T (p.Ser26Leu) rs759963054
NM_182760.4(SUMF1):c.802A>G (p.Thr268Ala)
NM_182760.4(SUMF1):c.803C>T (p.Thr268Ile)
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
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.955-6C>G rs886058518
NM_207118.3(GTF2H5):c.116A>T (p.Asp39Val)

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