ClinVar Miner

List of variants studied for Chediak-Higashi syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 370
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HGVS dbSNP
NM_000081.3(LYST):c.7060_7066del (p.Leu2354Metfs)
NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
NM_000081.4(LYST):c.3170del (p.Lys1057fs)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.7229+50CTTTT[7]
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_000081.4(LYST):c.949G>A (p.Glu317Lys)
NM_001301365.1(LYST):c.*1211G>A
NM_001301365.1(LYST):c.*1275T>C
NM_001301365.1(LYST):c.*1295T>C
NM_001301365.1(LYST):c.*1356G>T
NM_001301365.1(LYST):c.*1379G>C
NM_001301365.1(LYST):c.*1428T>G
NM_001301365.1(LYST):c.*1438C>T
NM_001301365.1(LYST):c.*1792A>G
NM_001301365.1(LYST):c.*1831A>C
NM_001301365.1(LYST):c.*1861C>A
NM_001301365.1(LYST):c.*191T>C
NM_001301365.1(LYST):c.*247G>T
NM_001301365.1(LYST):c.*329A>G
NM_001301365.1(LYST):c.*446T>C
NM_001301365.1(LYST):c.*519C>T
NM_001301365.1(LYST):c.*5G>A
NM_001301365.1(LYST):c.*685G>T
NM_001301365.1(LYST):c.*694T>C
NM_001301365.1(LYST):c.*725G>A
NM_001301365.1(LYST):c.*824A>G
NM_001301365.1(LYST):c.*831A>G
NM_001301365.1(LYST):c.*873G>C
NM_001301365.1(LYST):c.*891G>C
NM_001301365.1(LYST):c.*907G>A
NM_001301365.1(LYST):c.*94A>G
NM_001301365.1(LYST):c.-5C>T rs141317482
NM_001301365.1(LYST):c.-7-14T>C
NM_001301365.1(LYST):c.-97-13dup
NM_001301365.1(LYST):c.-97-9T>G
NM_001301365.1(LYST):c.-98+16300C>T
NM_001301365.1(LYST):c.-98+16302G>C
NM_001301365.1(LYST):c.-98+16303G>A
NM_001301365.1(LYST):c.-98+16308G>A
NM_001301365.1(LYST):c.-98+16308G>C
NM_001301365.1(LYST):c.-98+16311G>C
NM_001301365.1(LYST):c.10025G>A (p.Arg3342Gln)
NM_001301365.1(LYST):c.10091A>G (p.Tyr3364Cys)
NM_001301365.1(LYST):c.10127A>G (p.Asn3376Ser)
NM_001301365.1(LYST):c.10174G>A (p.Glu3392Lys)
NM_001301365.1(LYST):c.10235G>A (p.Arg3412His) rs148409403
NM_001301365.1(LYST):c.10341G>A (p.Glu3447=)
NM_001301365.1(LYST):c.10346G>A (p.Arg3449Gln)
NM_001301365.1(LYST):c.10370A>G (p.Tyr3457Cys)
NM_001301365.1(LYST):c.10392A>G (p.Ile3464Met)
NM_001301365.1(LYST):c.10395del (p.Gly3466fs)
NM_001301365.1(LYST):c.10414T>C (p.Tyr3472His)
NM_001301365.1(LYST):c.10444G>A (p.Val3482Met)
NM_001301365.1(LYST):c.10459C>G (p.Gln3487Glu)
NM_001301365.1(LYST):c.10468G>A (p.Gly3490Arg)
NM_001301365.1(LYST):c.10477T>C (p.Phe3493Leu)
NM_001301365.1(LYST):c.10526G>A (p.Arg3509Gln)
NM_001301365.1(LYST):c.10657A>G (p.Ser3553Gly)
NM_001301365.1(LYST):c.10669G>T (p.Val3557Leu)
NM_001301365.1(LYST):c.10684A>C (p.Ser3562Arg)
NM_001301365.1(LYST):c.10707T>C (p.Thr3569=)
NM_001301365.1(LYST):c.10733G>T (p.Cys3578Phe)
NM_001301365.1(LYST):c.10800+4G>T rs41308172
NM_001301365.1(LYST):c.10817T>C (p.Met3606Thr)
NM_001301365.1(LYST):c.10838A>G (p.Tyr3613Cys)
NM_001301365.1(LYST):c.10941-7C>A rs72761794
NM_001301365.1(LYST):c.11076C>T (p.Asn3692=)
NM_001301365.1(LYST):c.110C>T (p.Thr37Met)
NM_001301365.1(LYST):c.11102G>T (p.Cys3701Phe)
NM_001301365.1(LYST):c.1111C>T (p.Pro371Ser)
NM_001301365.1(LYST):c.11122G>A (p.Val3708Met)
NM_001301365.1(LYST):c.11167G>A (p.Ala3723Thr)
NM_001301365.1(LYST):c.11167G>T (p.Ala3723Ser)
NM_001301365.1(LYST):c.11173G>A (p.Gly3725Arg)
NM_001301365.1(LYST):c.11196-15T>G
NM_001301365.1(LYST):c.11268-17dup
NM_001301365.1(LYST):c.11268-5del rs36014994
NM_001301365.1(LYST):c.11268-6_11268-5del
NM_001301365.1(LYST):c.11278T>C (p.Ser3760Pro)
NM_001301365.1(LYST):c.112C>T (p.His38Tyr)
NM_001301365.1(LYST):c.11354G>A (p.Arg3785His) rs370173269
NM_001301365.1(LYST):c.11401G>C (p.Gly3801Arg)
NM_001301365.1(LYST):c.118dup (p.Ala40fs) rs80338642
NM_001301365.1(LYST):c.1198C>A (p.Leu400Ile)
NM_001301365.1(LYST):c.1251A>G (p.Gln417=) rs1063128
NM_001301365.1(LYST):c.1275C>G (p.Tyr425Ter)
NM_001301365.1(LYST):c.1328A>G (p.Asn443Ser)
NM_001301365.1(LYST):c.1390G>A (p.Glu464Lys)
NM_001301365.1(LYST):c.143A>G (p.His48Arg)
NM_001301365.1(LYST):c.1467del (p.Glu489fs) rs80338644
NM_001301365.1(LYST):c.1478A>G (p.His493Arg)
NM_001301365.1(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_001301365.1(LYST):c.1494A>G (p.Arg498=)
NM_001301365.1(LYST):c.1532A>G (p.His511Arg)
NM_001301365.1(LYST):c.153A>C (p.Gly51=) rs11464
NM_001301365.1(LYST):c.1540C>T (p.Arg514Ter)
NM_001301365.1(LYST):c.1565C>T (p.Ser522Leu)
NM_001301365.1(LYST):c.1610C>T (p.Ala537Val)
NM_001301365.1(LYST):c.1636C>T (p.Arg546Trp)
NM_001301365.1(LYST):c.1655T>C (p.Val552Ala)
NM_001301365.1(LYST):c.1664A>C (p.His555Pro)
NM_001301365.1(LYST):c.1683A>G (p.Leu561=) rs3820553
NM_001301365.1(LYST):c.1697T>G (p.Leu566Trp)
NM_001301365.1(LYST):c.1722A>G (p.Leu574=)
NM_001301365.1(LYST):c.1725G>A (p.Ser575=)
NM_001301365.1(LYST):c.1767A>C (p.Lys589Asn)
NM_001301365.1(LYST):c.1829A>T (p.His610Leu)
NM_001301365.1(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_001301365.1(LYST):c.1940T>G (p.Leu647Arg)
NM_001301365.1(LYST):c.196T>C (p.Leu66=)
NM_001301365.1(LYST):c.1996A>G (p.Ser666Gly)
NM_001301365.1(LYST):c.2009_2011CTT[1] (p.Ser671del)
NM_001301365.1(LYST):c.2258G>A (p.Ser753Asn)
NM_001301365.1(LYST):c.2310T>C (p.Pro770=)
NM_001301365.1(LYST):c.2313G>A (p.Gln771=)
NM_001301365.1(LYST):c.2316C>T (p.Asp772=) rs16832868
NM_001301365.1(LYST):c.2355T>C (p.Leu785=) rs3768066
NM_001301365.1(LYST):c.2363+10dup
NM_001301365.1(LYST):c.2413G>T (p.Glu805Ter)
NM_001301365.1(LYST):c.2413del (p.Glu805fs)
NM_001301365.1(LYST):c.2438G>A (p.Arg813Gln)
NM_001301365.1(LYST):c.2442T>A (p.Ser814Arg)
NM_001301365.1(LYST):c.2443C>T (p.His815Tyr)
NM_001301365.1(LYST):c.244C>T (p.Leu82=)
NM_001301365.1(LYST):c.2454del (p.Ala819fs)
NM_001301365.1(LYST):c.2455G>A (p.Ala819Thr)
NM_001301365.1(LYST):c.2480T>A (p.Leu827Gln)
NM_001301365.1(LYST):c.2517T>C (p.Ile839=)
NM_001301365.1(LYST):c.2623del (p.Tyr875fs) rs80338649
NM_001301365.1(LYST):c.2630G>C (p.Gly877Ala)
NM_001301365.1(LYST):c.2687A>G (p.Asn896Ser)
NM_001301365.1(LYST):c.2700A>G (p.Leu900=)
NM_001301365.1(LYST):c.2724C>T (p.Cys908=)
NM_001301365.1(LYST):c.2725G>A (p.Val909Ile)
NM_001301365.1(LYST):c.2769A>C (p.Ser923=) rs112739986
NM_001301365.1(LYST):c.278C>G (p.Ala93Gly)
NM_001301365.1(LYST):c.2806C>A (p.Pro936Thr)
NM_001301365.1(LYST):c.280A>G (p.Thr94Ala)
NM_001301365.1(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_001301365.1(LYST):c.2828G>A (p.Cys943Tyr)
NM_001301365.1(LYST):c.285T>G (p.Asp95Glu)
NM_001301365.1(LYST):c.2870T>C (p.Met957Thr)
NM_001301365.1(LYST):c.2908A>C (p.Ile970Leu)
NM_001301365.1(LYST):c.2926G>A (p.Val976Met)
NM_001301365.1(LYST):c.2945A>G (p.Tyr982Cys)
NM_001301365.1(LYST):c.2946T>C (p.Tyr982=)
NM_001301365.1(LYST):c.2963G>A (p.Arg988Gln)
NM_001301365.1(LYST):c.3014A>G (p.His1005Arg)
NM_001301365.1(LYST):c.3030A>G (p.Gly1010=)
NM_001301365.1(LYST):c.3050G>A (p.Ser1017Asn) rs10465613
NM_001301365.1(LYST):c.3065A>G (p.Gln1022Arg)
NM_001301365.1(LYST):c.3073_3074del (p.Asn1025fs)
NM_001301365.1(LYST):c.3083C>G (p.Ser1028Cys) rs150636017
NM_001301365.1(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_001301365.1(LYST):c.3091A>G (p.Lys1031Glu)
NM_001301365.1(LYST):c.3134G>A (p.Ser1045Asn)
NM_001301365.1(LYST):c.3137A>G (p.Asp1046Gly)
NM_001301365.1(LYST):c.3160A>G (p.Ser1054Gly)
NM_001301365.1(LYST):c.3167A>C (p.Lys1056Thr)
NM_001301365.1(LYST):c.3203A>G (p.Gln1068Arg)
NM_001301365.1(LYST):c.3278G>A (p.Ser1093Asn)
NM_001301365.1(LYST):c.3310C>T (p.Arg1104Ter) rs80338652
NM_001301365.1(LYST):c.3311G>A (p.Arg1104Gln) rs148299757
NM_001301365.1(LYST):c.3324C>T (p.Ala1108=)
NM_001301365.1(LYST):c.3370A>G (p.Met1124Val)
NM_001301365.1(LYST):c.3394-14T>C rs372892911
NM_001301365.1(LYST):c.3434dup (p.His1145fs)
NM_001301365.1(LYST):c.3499G>A (p.Val1167Ile)
NM_001301365.1(LYST):c.3507C>T (p.Leu1169=)
NM_001301365.1(LYST):c.3536A>G (p.Asn1179Ser)
NM_001301365.1(LYST):c.3573A>C (p.Glu1191Asp)
NM_001301365.1(LYST):c.3613G>A (p.Glu1205Lys)
NM_001301365.1(LYST):c.3616G>C (p.Asp1206His)
NM_001301365.1(LYST):c.3622C>T (p.Gln1208Ter)
NM_001301365.1(LYST):c.368A>G (p.His123Arg) rs3768067
NM_001301365.1(LYST):c.3697G>A (p.Glu1233Lys)
NM_001301365.1(LYST):c.3712+12T>C
NM_001301365.1(LYST):c.3746G>A (p.Ser1249Asn)
NM_001301365.1(LYST):c.3757A>C (p.Ser1253Arg)
NM_001301365.1(LYST):c.3775G>A (p.Glu1259Lys)
NM_001301365.1(LYST):c.3834G>A (p.Leu1278=)
NM_001301365.1(LYST):c.3898A>G (p.Ile1300Val)
NM_001301365.1(LYST):c.3931A>G (p.Met1311Val)
NM_001301365.1(LYST):c.3944dup (p.Val1316fs)
NM_001301365.1(LYST):c.3989A>C (p.Asp1330Ala) rs74641549
NM_001301365.1(LYST):c.4052C>G (p.Ser1351Ter)
NM_001301365.1(LYST):c.4084T>G (p.Leu1362Val)
NM_001301365.1(LYST):c.4108C>G (p.Pro1370Ala)
NM_001301365.1(LYST):c.4135A>G (p.Ile1379Val)
NM_001301365.1(LYST):c.4187C>G (p.Thr1396Ser)
NM_001301365.1(LYST):c.422G>A (p.Arg141Gln)
NM_001301365.1(LYST):c.4274del (p.Leu1425fs)
NM_001301365.1(LYST):c.4337G>A (p.Arg1446Gln)
NM_001301365.1(LYST):c.4357A>G (p.Ile1453Val)
NM_001301365.1(LYST):c.4361C>A (p.Ala1454Asp)
NM_001301365.1(LYST):c.4377G>A (p.Pro1459=)
NM_001301365.1(LYST):c.4392C>T (p.Asn1464=) rs11583387
NM_001301365.1(LYST):c.4416T>C (p.Gly1472=)
NM_001301365.1(LYST):c.446T>C (p.Ile149Thr)
NM_001301365.1(LYST):c.4487A>C (p.Lys1496Thr)
NM_001301365.1(LYST):c.452A>G (p.His151Arg)
NM_001301365.1(LYST):c.4545G>C (p.Glu1515Asp)
NM_001301365.1(LYST):c.4548C>A (p.Ser1516Arg)
NM_001301365.1(LYST):c.4566A>C (p.Ala1522=)
NM_001301365.1(LYST):c.4670A>G (p.Asn1557Ser)
NM_001301365.1(LYST):c.4688+6G>A
NM_001301365.1(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_001301365.1(LYST):c.4705A>C (p.Asn1569His)
NM_001301365.1(LYST):c.476G>A (p.Arg159Lys)
NM_001301365.1(LYST):c.4863-4G>T
NM_001301365.1(LYST):c.4904C>G (p.Thr1635Arg)
NM_001301365.1(LYST):c.4956A>G (p.Leu1652=) rs6696123
NM_001301365.1(LYST):c.5033T>C (p.Val1678Ala)
NM_001301365.1(LYST):c.5061T>A (p.Tyr1687Ter)
NM_001301365.1(LYST):c.5071C>T (p.Pro1691Ser)
NM_001301365.1(LYST):c.5263A>G (p.Ile1755Val)
NM_001301365.1(LYST):c.5291G>A (p.Gly1764Asp)
NM_001301365.1(LYST):c.5291G>C (p.Gly1764Ala) rs35413645
NM_001301365.1(LYST):c.52C>T (p.Arg18Trp)
NM_001301365.1(LYST):c.5317del (p.Arg1773fs)
NM_001301365.1(LYST):c.5373G>A (p.Lys1791=) rs2273584
NM_001301365.1(LYST):c.5506C>T (p.Arg1836Ter)
NM_001301365.1(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_001301365.1(LYST):c.5533A>G (p.Asn1845Asp)
NM_001301365.1(LYST):c.5541_5542del (p.Arg1848fs)
NM_001301365.1(LYST):c.5549A>G (p.His1850Arg)
NM_001301365.1(LYST):c.5590G>T (p.Val1864Leu)
NM_001301365.1(LYST):c.5634+11A>G
NM_001301365.1(LYST):c.5635-4A>G
NM_001301365.1(LYST):c.5676G>A (p.Met1892Ile)
NM_001301365.1(LYST):c.5719A>G (p.Ile1907Val)
NM_001301365.1(LYST):c.574T>G (p.Leu192Val) rs7524261
NM_001301365.1(LYST):c.5833G>A (p.Ala1945Thr)
NM_001301365.1(LYST):c.5847G>C (p.Gln1949His) rs6665568
NM_001301365.1(LYST):c.5883A>G (p.Gln1961=)
NM_001301365.1(LYST):c.5920C>G (p.Gln1974Glu)
NM_001301365.1(LYST):c.5956C>T (p.Arg1986Ter)
NM_001301365.1(LYST):c.5957G>A (p.Arg1986Gln)
NM_001301365.1(LYST):c.5996T>A (p.Val1999Asp) rs28942077
NM_001301365.1(LYST):c.6078C>A (p.Tyr2026Ter)
NM_001301365.1(LYST):c.6079G>C (p.Val2027Leu)
NM_001301365.1(LYST):c.6122-13del rs201404906
NM_001301365.1(LYST):c.6149G>A (p.Arg2050Gln)
NM_001301365.1(LYST):c.6185G>A (p.Gly2062Glu)
NM_001301365.1(LYST):c.6188G>A (p.Arg2063Lys)
NM_001301365.1(LYST):c.6238G>C (p.Ala2080Pro)
NM_001301365.1(LYST):c.6266C>G (p.Ser2089Cys)
NM_001301365.1(LYST):c.6279A>G (p.Pro2093=)
NM_001301365.1(LYST):c.6291C>T (p.Ala2097=)
NM_001301365.1(LYST):c.6292G>A (p.Ala2098Thr)
NM_001301365.1(LYST):c.643C>T (p.Pro215Ser)
NM_001301365.1(LYST):c.6454A>C (p.Ser2152Arg)
NM_001301365.1(LYST):c.6460G>A (p.Asp2154Asn)
NM_001301365.1(LYST):c.646C>T (p.Pro216Ser)
NM_001301365.1(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_001301365.1(LYST):c.6630A>G (p.Glu2210=) rs34466404
NM_001301365.1(LYST):c.6656G>A (p.Gly2219Glu)
NM_001301365.1(LYST):c.6673C>T (p.Arg2225Cys)
NM_001301365.1(LYST):c.6682G>C (p.Asp2228His)
NM_001301365.1(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_001301365.1(LYST):c.6744A>G (p.Leu2248=)
NM_001301365.1(LYST):c.6772G>C (p.Ala2258Pro)
NM_001301365.1(LYST):c.6775G>A (p.Val2259Ile)
NM_001301365.1(LYST):c.6812A>G (p.Asp2271Gly) rs112601869
NM_001301365.1(LYST):c.6833A>G (p.Tyr2278Cys)
NM_001301365.1(LYST):c.6863G>A (p.Arg2288Gln)
NM_001301365.1(LYST):c.6898T>G (p.Leu2300Val)
NM_001301365.1(LYST):c.6900G>A (p.Leu2300=) rs10926586
NM_001301365.1(LYST):c.7059+7G>A rs111764031
NM_001301365.1(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_001301365.1(LYST):c.7181A>G (p.Glu2394Gly)
NM_001301365.1(LYST):c.71T>C (p.Val24Ala)
NM_001301365.1(LYST):c.7228G>A (p.Glu2410Lys)
NM_001301365.1(LYST):c.7258G>A (p.Gly2420Arg)
NM_001301365.1(LYST):c.7322A>C (p.Asn2441Thr)
NM_001301365.1(LYST):c.7340C>T (p.Ala2447Val)
NM_001301365.1(LYST):c.7350_7352TCT[1] (p.Leu2452del)
NM_001301365.1(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_001301365.1(LYST):c.7370C>A (p.Ser2457Tyr)
NM_001301365.1(LYST):c.7385C>A (p.Ala2462Glu)
NM_001301365.1(LYST):c.7430C>T (p.Thr2477Ile)
NM_001301365.1(LYST):c.7439C>A (p.Ala2480Asp)
NM_001301365.1(LYST):c.7457A>G (p.Lys2486Arg)
NM_001301365.1(LYST):c.748A>G (p.Met250Val)
NM_001301365.1(LYST):c.7506A>C (p.Gln2502His)
NM_001301365.1(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_001301365.1(LYST):c.7555del (p.Tyr2519fs)
NM_001301365.1(LYST):c.7576C>T (p.Leu2526Phe)
NM_001301365.1(LYST):c.7627+6A>T
NM_001301365.1(LYST):c.7647G>A (p.Gln2549=)
NM_001301365.1(LYST):c.772T>C (p.Cys258Arg)
NM_001301365.1(LYST):c.7766G>A (p.Arg2589Gln)
NM_001301365.1(LYST):c.777T>C (p.His259=)
NM_001301365.1(LYST):c.7784C>T (p.Pro2595Leu)
NM_001301365.1(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241
NM_001301365.1(LYST):c.7806A>G (p.Gln2602=)
NM_001301365.1(LYST):c.7836A>G (p.Ser2612=)
NM_001301365.1(LYST):c.7857T>C (p.His2619=) rs34160788
NM_001301365.1(LYST):c.7862T>C (p.Met2621Thr) rs368500877
NM_001301365.1(LYST):c.7920G>A (p.Ala2640=)
NM_001301365.1(LYST):c.7957A>G (p.Arg2653Gly)
NM_001301365.1(LYST):c.7982C>G (p.Ser2661Ter)
NM_001301365.1(LYST):c.8214G>C (p.Glu2738Asp)
NM_001301365.1(LYST):c.8222G>A (p.Arg2741Gln)
NM_001301365.1(LYST):c.8258C>T (p.Ser2753Leu)
NM_001301365.1(LYST):c.8281A>T (p.Arg2761Ter)
NM_001301365.1(LYST):c.8328A>G (p.Ile2776Met)
NM_001301365.1(LYST):c.8336A>G (p.Asp2779Gly)
NM_001301365.1(LYST):c.8368A>C (p.Lys2790Gln)
NM_001301365.1(LYST):c.8395A>G (p.Ile2799Val)
NM_001301365.1(LYST):c.8411G>A (p.Gly2804Asp) rs35333195
NM_001301365.1(LYST):c.8426A>G (p.Glu2809Gly)
NM_001301365.1(LYST):c.8428G>A (p.Glu2810Lys)
NM_001301365.1(LYST):c.8438C>A (p.Thr2813Lys)
NM_001301365.1(LYST):c.8487C>T (p.Ile2829=)
NM_001301365.1(LYST):c.8535+7C>T
NM_001301365.1(LYST):c.8537A>C (p.Glu2846Ala)
NM_001301365.1(LYST):c.8560G>A (p.Glu2854Lys)
NM_001301365.1(LYST):c.8571T>G (p.Asn2857Lys)
NM_001301365.1(LYST):c.8572A>C (p.Lys2858Gln)
NM_001301365.1(LYST):c.8583G>A (p.Trp2861Ter)
NM_001301365.1(LYST):c.8607A>G (p.Gln2869=)
NM_001301365.1(LYST):c.8624G>A (p.Arg2875His)
NM_001301365.1(LYST):c.8629G>A (p.Asp2877Asn)
NM_001301365.1(LYST):c.8657T>C (p.Ile2886Thr)
NM_001301365.1(LYST):c.8742A>G (p.Lys2914=)
NM_001301365.1(LYST):c.8801+15G>C
NM_001301365.1(LYST):c.8802-2A>G
NM_001301365.1(LYST):c.8806G>A (p.Val2936Ile) rs2753327
NM_001301365.1(LYST):c.8818C>A (p.Pro2940Thr)
NM_001301365.1(LYST):c.8913T>G (p.Asn2971Lys)
NM_001301365.1(LYST):c.8960C>G (p.Pro2987Arg)
NM_001301365.1(LYST):c.8980G>A (p.Glu2994Lys)
NM_001301365.1(LYST):c.9017A>G (p.Lys3006Arg) rs140934482
NM_001301365.1(LYST):c.901A>G (p.Ser301Gly)
NM_001301365.1(LYST):c.9045-13T>C
NM_001301365.1(LYST):c.9053G>A (p.Arg3018Gln)
NM_001301365.1(LYST):c.9162+11G>A
NM_001301365.1(LYST):c.916T>G (p.Leu306Val)
NM_001301365.1(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer)
NM_001301365.1(LYST):c.925C>T (p.Arg309Ter)
NM_001301365.1(LYST):c.9327T>A (p.Asp3109Glu)
NM_001301365.1(LYST):c.9332A>G (p.Tyr3111Cys)
NM_001301365.1(LYST):c.9347C>A (p.Thr3116Lys)
NM_001301365.1(LYST):c.9415C>A (p.Gln3139Lys)
NM_001301365.1(LYST):c.9473A>G (p.Asn3158Ser)
NM_001301365.1(LYST):c.9517T>C (p.Tyr3173His)
NM_001301365.1(LYST):c.9520G>A (p.Val3174Ile) rs199672291
NM_001301365.1(LYST):c.9529A>C (p.Thr3177Pro)
NM_001301365.1(LYST):c.9542A>G (p.Asn3181Ser)
NM_001301365.1(LYST):c.9552G>T (p.Leu3184Phe) rs556200563
NM_001301365.1(LYST):c.957G>A (p.Pro319=)
NM_001301365.1(LYST):c.9590del (p.Tyr3197fs) rs80338667
NM_001301365.1(LYST):c.9646C>T (p.Arg3216Cys)
NM_001301365.1(LYST):c.9653_9654delinsTT (p.Gly3218Val)
NM_001301365.1(LYST):c.9742G>A (p.Val3248Ile)
NM_001301365.1(LYST):c.9811A>T (p.Thr3271Ser)
NM_001301365.1(LYST):c.9823A>G (p.Thr3275Ala)
NM_001301365.1(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_001301365.1(LYST):c.9839G>A (p.Arg3280Gln)
NM_001301365.1(LYST):c.9893del (p.Phe3298fs)
NM_001301365.1(LYST):c.9896A>G (p.Tyr3299Cys)
NM_001301365.1(LYST):c.9919C>T (p.Arg3307Cys)
NM_001301365.1(LYST):c.9920G>A (p.Arg3307His)
NM_001301365.1(LYST):c.9943C>T (p.Arg3315Cys)
NM_001301365.1(LYST):c.9969C>T (p.His3323=)
NM_001301365.1(LYST):c.9C>T (p.Thr3=) rs33998267

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