ClinVar Miner

List of variants studied for Combined deficiency of sialidase AND beta galactosidase

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ClinVar version:
Total variants: 490
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HGVS dbSNP gnomAD frequency
NM_000308.4(CTSA):c.693-33A>G rs4810476 0.65662
NM_000308.4(CTSA):c.1088+10C>T rs4608591 0.65654
NM_000308.4(CTSA):c.948+7G>A rs2075961 0.65493
NM_000308.3(CTSA):c.-322G>A rs2868362 0.45384
NM_000308.4(CTSA):c.1359+35G>A rs7270170 0.34309
NM_000308.4(CTSA):c.219C>G (p.Pro73=) rs742035 0.05580
NM_000308.4(CTSA):c.1353G>A (p.Thr451=) rs25649 0.01568
NM_000308.4(CTSA):c.444+14C>T rs6032580 0.01474
NM_000308.3(CTSA):c.-223G>A rs117529875 0.01440
NM_000308.3(CTSA):c.-43G>T rs116893852 0.01437
NM_000308.3(CTSA):c.-172A>C rs184484066 0.00832
NM_000308.4(CTSA):c.*51C>G rs375835315 0.00438
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn) rs142892564 0.00309
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_000308.3(CTSA):c.-292T>C rs554749359 0.00158
NM_000308.4(CTSA):c.564C>T (p.Ala188=) rs149793498 0.00051
NM_000308.4(CTSA):c.*266T>A rs536094482 0.00030
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr) rs144407534 0.00029
NM_000308.4(CTSA):c.1059G>A (p.Pro353=) rs74694805 0.00019
NM_000308.4(CTSA):c.1088+3G>A rs372830379 0.00019
NM_000308.4(CTSA):c.1368C>G (p.Gly456=) rs141528471 0.00018
NM_000308.4(CTSA):c.603G>A (p.Gly201=) rs1034687892 0.00017
NM_000308.3(CTSA):c.-52G>A rs373024722 0.00016
NM_000308.4(CTSA):c.*50C>T rs370691011 0.00016
NM_000308.4(CTSA):c.160C>T (p.Leu54Phe) rs138615064 0.00016
NM_000308.4(CTSA):c.365A>G (p.Asn122Ser) rs199735882 0.00013
NM_000308.4(CTSA):c.1089-5G>A rs760742688 0.00012
NM_000308.4(CTSA):c.468C>T (p.Ala156=) rs190565374 0.00012
NM_000308.4(CTSA):c.601-17C>A rs541720263 0.00012
NM_000308.4(CTSA):c.*320G>A rs568876316 0.00011
NM_000308.4(CTSA):c.1036G>A (p.Val346Met) rs137941635 0.00011
NM_000308.4(CTSA):c.870-15C>T rs756803626 0.00011
NM_000308.4(CTSA):c.948+5G>A rs201180372 0.00011
NM_000308.4(CTSA):c.977G>A (p.Arg326His) rs554534522 0.00010
NM_000308.4(CTSA):c.201G>A (p.Val67=) rs149268665 0.00009
NM_000308.4(CTSA):c.920G>A (p.Arg307His) rs199808601 0.00009
NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu) rs368108194 0.00008
NM_000308.4(CTSA):c.1088+5G>C rs377189450 0.00007
NM_000308.4(CTSA):c.1124G>A (p.Arg375Gln) rs370763298 0.00007
NM_000308.4(CTSA):c.1409T>C (p.Met470Thr) rs771327084 0.00007
NM_000308.4(CTSA):c.938T>C (p.Met313Thr) rs759949142 0.00007
NM_000308.3(CTSA):c.-271G>A rs566739434 0.00006
NM_000308.4(CTSA):c.1110C>T (p.Tyr370=) rs372617705 0.00006
NM_000308.4(CTSA):c.769G>A (p.Val257Met) rs745752655 0.00006
NM_000308.4(CTSA):c.934C>T (p.Arg312Trp) rs368697828 0.00006
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn) rs137854544 0.00005
NM_000308.4(CTSA):c.1-2A>G rs979557944 0.00004
NM_000308.4(CTSA):c.1009G>C (p.Ala337Pro) rs374059459 0.00004
NM_000308.4(CTSA):c.1164+7G>A rs775198775 0.00004
NM_000308.4(CTSA):c.1290C>T (p.Tyr430=) rs757162844 0.00004
NM_000308.4(CTSA):c.448G>A (p.Ala150Thr) rs779275701 0.00004
NM_000308.4(CTSA):c.60del (p.Ser21fs) rs750928198 0.00004
NM_000308.4(CTSA):c.980T>C (p.Met327Thr) rs140321228 0.00004
NM_000308.4(CTSA):c.-17G>A rs372800409 0.00003
NM_000308.4(CTSA):c.-6G>A rs1471695726 0.00003
NM_000308.4(CTSA):c.1040G>A (p.Arg347Gln) rs375345060 0.00003
NM_000308.4(CTSA):c.1268G>A (p.Arg423His) rs754739494 0.00003
NM_000308.4(CTSA):c.1315G>A (p.Gly439Ser) rs137854547 0.00003
NM_000308.4(CTSA):c.1341C>T (p.Ile447=) rs530181128 0.00003
NM_000308.4(CTSA):c.497del (p.Glu166fs) rs1159382283 0.00003
NM_000308.4(CTSA):c.601-2A>G rs778159802 0.00003
NM_000308.4(CTSA):c.692+13G>A rs371053390 0.00003
NM_000308.4(CTSA):c.869+20C>T rs765166702 0.00003
NM_000308.4(CTSA):c.-12G>C rs770340993 0.00002
NM_000308.4(CTSA):c.1074A>T (p.Gln358His) rs766994463 0.00002
NM_000308.4(CTSA):c.1081A>G (p.Met361Val) rs752703552 0.00002
NM_000308.4(CTSA):c.1255-14T>C rs760814659 0.00002
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val) rs137854540 0.00002
NM_000308.4(CTSA):c.1343C>T (p.Ala448Val) rs185187245 0.00002
NM_000308.4(CTSA):c.1361G>T (p.Gly454Val) rs373421813 0.00002
NM_000308.4(CTSA):c.319G>A (p.Gly107Ser) rs886056713 0.00002
NM_000308.4(CTSA):c.444+18C>T rs1258174043 0.00002
NM_000308.4(CTSA):c.55_57del (p.Leu19del) rs544157818 0.00002
NM_000308.4(CTSA):c.693-3C>T rs773034222 0.00002
NM_000308.4(CTSA):c.793C>T (p.Arg265Cys) rs763381306 0.00002
NM_000308.4(CTSA):c.987C>T (p.Pro329=) rs761023765 0.00002
NM_000308.4(CTSA):c.991del (p.Cys331fs) rs745743780 0.00002
NM_000308.3(CTSA):c.-234C>G rs558829056 0.00001
NM_000308.3(CTSA):c.-237delT rs886056711 0.00001
NM_000308.4(CTSA):c.-13C>A rs748154467 0.00001
NM_000308.4(CTSA):c.-42C>T rs765245462 0.00001
NM_000308.4(CTSA):c.-43T>A rs779305626 0.00001
NM_000308.4(CTSA):c.1039C>T (p.Arg347Trp) rs1437597214 0.00001
NM_000308.4(CTSA):c.1101C>T (p.Asn367=) rs201234134 0.00001
NM_000308.4(CTSA):c.110G>C (p.Arg37Pro) rs751427255 0.00001
NM_000308.4(CTSA):c.1111C>T (p.Arg371Cys) rs766490643 0.00001
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter) rs1189568492 0.00001
NM_000308.4(CTSA):c.114C>G (p.Leu38=) rs368879245 0.00001
NM_000308.4(CTSA):c.1152G>T (p.Leu384=) rs745547045 0.00001
NM_000308.4(CTSA):c.1195G>A (p.Val399Ile) rs779857539 0.00001
NM_000308.4(CTSA):c.11C>G (p.Ala4Gly) rs1986920005 0.00001
NM_000308.4(CTSA):c.1270C>T (p.Arg424Trp) rs1247403237 0.00001
NM_000308.4(CTSA):c.1320C>T (p.Phe440=) rs763420130 0.00001
NM_000308.4(CTSA):c.1356C>A (p.Ile452=) rs1201030038 0.00001
NM_000308.4(CTSA):c.1365C>T (p.Ala455=) rs369254598 0.00001
NM_000308.4(CTSA):c.1366G>A (p.Gly456Ser) rs200051553 0.00001
NM_000308.4(CTSA):c.1382C>A (p.Thr461Asn) rs149971062 0.00001
NM_000308.4(CTSA):c.1435C>G (p.Pro479Ala) rs1411857412 0.00001
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg) rs137854541 0.00001
NM_000308.4(CTSA):c.195-7C>T rs773860756 0.00001
NM_000308.4(CTSA):c.285C>G (p.Leu95=) rs146382561 0.00001
NM_000308.4(CTSA):c.291G>A (p.Glu97=) rs1986982141 0.00001
NM_000308.4(CTSA):c.394G>A (p.Val132Met) rs137854545 0.00001
NM_000308.4(CTSA):c.414T>C (p.Asp138=) rs755950061 0.00001
NM_000308.4(CTSA):c.445-19C>T rs752702483 0.00001
NM_000308.4(CTSA):c.495G>A (p.Pro165=) rs1350708938 0.00001
NM_000308.4(CTSA):c.525C>T (p.Thr175=) rs1157339986 0.00001
NM_000308.4(CTSA):c.533G>C (p.Ser178Thr) rs757124963 0.00001
NM_000308.4(CTSA):c.53T>G (p.Leu18Arg) rs749819661 0.00001
NM_000308.4(CTSA):c.600+3G>A rs1175825927 0.00001
NM_000308.4(CTSA):c.692+6G>A rs199997385 0.00001
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter) rs766114836 0.00001
NM_000308.4(CTSA):c.724T>A (p.Ser242Thr) rs1381644117 0.00001
NM_000308.4(CTSA):c.74G>A (p.Arg25Gln) rs746200419 0.00001
NM_000308.4(CTSA):c.777+20T>C rs564493992 0.00001
NM_000308.4(CTSA):c.839C>T (p.Pro280Leu) rs778824488 0.00001
NM_000308.4(CTSA):c.840G>A (p.Pro280=) rs576367740 0.00001
NM_000308.4(CTSA):c.869+14G>A rs1041165015 0.00001
NM_000308.4(CTSA):c.869+1G>C rs1987148852 0.00001
NM_000308.4(CTSA):c.869+9T>G rs761952251 0.00001
NM_000308.4(CTSA):c.877A>G (p.Lys293Glu) rs779873368 0.00001
NC_000020.10:g.(?_44519965)_(44751017_?)del
NC_000020.11:g.45891331T>C
NM_000308.3(CTSA):c.-238delC rs554760054
NM_000308.4(CTSA):c.-1+10C>T
NM_000308.4(CTSA):c.-1+12C>T
NM_000308.4(CTSA):c.-1+13C>T
NM_000308.4(CTSA):c.-1+16A>G
NM_000308.4(CTSA):c.-1+18G>A
NM_000308.4(CTSA):c.-1+6C>A rs1164857603
NM_000308.4(CTSA):c.-1+7T>C
NM_000308.4(CTSA):c.-1+7T>G
NM_000308.4(CTSA):c.-1+9G>A
NM_000308.4(CTSA):c.-10G>A
NM_000308.4(CTSA):c.-15C>T rs188792776
NM_000308.4(CTSA):c.-18G>C rs1227051895
NM_000308.4(CTSA):c.-28T>C
NM_000308.4(CTSA):c.-2A>C
NM_000308.4(CTSA):c.-2A>G
NM_000308.4(CTSA):c.-31T>C
NM_000308.4(CTSA):c.-34G>A
NM_000308.4(CTSA):c.-34G>C
NM_000308.4(CTSA):c.-40C>T
NM_000308.4(CTSA):c.-41C>T rs750301506
NM_000308.4(CTSA):c.1-11G>A
NM_000308.4(CTSA):c.1-18C>G
NM_000308.4(CTSA):c.1-4G>A
NM_000308.4(CTSA):c.1-6C>T
NM_000308.4(CTSA):c.1-7C>G
NM_000308.4(CTSA):c.1005del (p.Ala336fs)
NM_000308.4(CTSA):c.1008T>G (p.Ala336=)
NM_000308.4(CTSA):c.1011T>G (p.Ala337=)
NM_000308.4(CTSA):c.1019dup (p.Tyr340Ter)
NM_000308.4(CTSA):c.1024A>G (p.Asn342Asp)
NM_000308.4(CTSA):c.1032G>A (p.Pro344=)
NM_000308.4(CTSA):c.1032G>C (p.Pro344=)
NM_000308.4(CTSA):c.1035C>A (p.Tyr345Ter)
NM_000308.4(CTSA):c.1035C>T (p.Tyr345=)
NM_000308.4(CTSA):c.1043A>C (p.Lys348Thr) rs780430995
NM_000308.4(CTSA):c.1044G>A (p.Lys348=)
NM_000308.4(CTSA):c.1053C>T (p.Asn351=)
NM_000308.4(CTSA):c.1059G>C (p.Pro353=)
NM_000308.4(CTSA):c.1063C>T (p.Gln355Ter)
NM_000308.4(CTSA):c.1073A>C (p.Gln358Pro) rs543752177
NM_000308.4(CTSA):c.1073A>G (p.Gln358Arg)
NM_000308.4(CTSA):c.1074A>G (p.Gln358=)
NM_000308.4(CTSA):c.1087A>G (p.Asn363Asp)
NM_000308.4(CTSA):c.1088+11G>A
NM_000308.4(CTSA):c.1088+16C>T
NM_000308.4(CTSA):c.1088+18C>T
NM_000308.4(CTSA):c.1088+1G>A
NM_000308.4(CTSA):c.1088+8T>C
NM_000308.4(CTSA):c.1089-13A>G
NM_000308.4(CTSA):c.1089-15G>A
NM_000308.4(CTSA):c.1089-16C>G
NM_000308.4(CTSA):c.1089-16C>T
NM_000308.4(CTSA):c.1089-3C>A rs764115103
NM_000308.4(CTSA):c.1089-4G>T rs2145822510
NM_000308.4(CTSA):c.1089-6C>T
NM_000308.4(CTSA):c.1089-8C>T
NM_000308.4(CTSA):c.1096G>A (p.Val366Ile)
NM_000308.4(CTSA):c.1099A>G (p.Asn367Asp)
NM_000308.4(CTSA):c.1104dup (p.Gln369fs) rs2083116648
NM_000308.4(CTSA):c.1105C>T (p.Gln369Ter)
NM_000308.4(CTSA):c.1106del (p.Gln369fs)
NM_000308.4(CTSA):c.1113C>A (p.Arg371=)
NM_000308.4(CTSA):c.1114C>T (p.Arg372Cys)
NM_000308.4(CTSA):c.111C>A (p.Arg37=)
NM_000308.4(CTSA):c.1122C>T (p.Tyr374=)
NM_000308.4(CTSA):c.112del (p.Leu38fs) rs1241378191
NM_000308.4(CTSA):c.1158C>T (p.Ser386=)
NM_000308.4(CTSA):c.115C>G (p.Pro39Ala) rs1483740187
NM_000308.4(CTSA):c.1163A>G (p.Gln388Arg)
NM_000308.4(CTSA):c.1164+16A>G
NM_000308.4(CTSA):c.1164+9G>A
NM_000308.4(CTSA):c.1165-12A>G
NM_000308.4(CTSA):c.1165-14C>T
NM_000308.4(CTSA):c.1165-15C>A
NM_000308.4(CTSA):c.1165-19T>G
NM_000308.4(CTSA):c.1184A>G (p.Tyr395Cys) rs137854543
NM_000308.4(CTSA):c.1185T>C (p.Tyr395=)
NM_000308.4(CTSA):c.1194T>C (p.Asp398=)
NM_000308.4(CTSA):c.1197A>C (p.Val399=)
NM_000308.4(CTSA):c.1215_1216insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCATGGCCTGCAATTTC (p.Phe405_Met406insPhePhePhePhePhePheXaaXaaXaaXaaGluGlyLeuLeuThrSerGlnLysGlyArgProGlyArgGlyAlaProHisLeuProAspGlyAlaAlaGlyMetAlaCysAsnPhe)
NM_000308.4(CTSA):c.1231T>C (p.Phe411Leu) rs2145823811
NM_000308.4(CTSA):c.1234G>A (p.Val412Met)
NM_000308.4(CTSA):c.1239T>C (p.Asp413=)
NM_000308.4(CTSA):c.1242C>T (p.Ser414=)
NM_000308.4(CTSA):c.1247A>G (p.Asn416Ser) rs2145823832
NM_000308.4(CTSA):c.1254+11G>C
NM_000308.4(CTSA):c.1254+15C>T
NM_000308.4(CTSA):c.1254+19G>A
NM_000308.4(CTSA):c.1254+5G>T
NM_000308.4(CTSA):c.1254+6del rs1433470100
NM_000308.4(CTSA):c.1254+8A>G
NM_000308.4(CTSA):c.1255-18T>C
NM_000308.4(CTSA):c.1255-1G>A
NM_000308.4(CTSA):c.1255-3C>A
NM_000308.4(CTSA):c.1255-4G>A
NM_000308.4(CTSA):c.1255-4G>C
NM_000308.4(CTSA):c.1255-7G>A
NM_000308.4(CTSA):c.1263G>A (p.Val421=)
NM_000308.4(CTSA):c.1267C>T (p.Arg423Cys)
NM_000308.4(CTSA):c.1293G>A (p.Gly431=)
NM_000308.4(CTSA):c.1294del (p.Asp432fs)
NM_000308.4(CTSA):c.1299C>T (p.Ser433=)
NM_000308.4(CTSA):c.1305G>A (p.Glu435=)
NM_000308.4(CTSA):c.130C>T (p.Gln44Ter) rs1311180360
NM_000308.4(CTSA):c.1311T>C (p.Ile437=)
NM_000308.4(CTSA):c.1314C>T (p.Ala438=)
NM_000308.4(CTSA):c.1329G>A (p.Glu443=)
NM_000308.4(CTSA):c.1341C>A (p.Ile447=)
NM_000308.4(CTSA):c.1350C>G (p.Leu450=)
NM_000308.4(CTSA):c.1359+12del
NM_000308.4(CTSA):c.1359+19G>A
NM_000308.4(CTSA):c.1359+19G>T
NM_000308.4(CTSA):c.1359+6G>T
NM_000308.4(CTSA):c.1360-13C>T
NM_000308.4(CTSA):c.1360-16G>A
NM_000308.4(CTSA):c.1360-16G>C
NM_000308.4(CTSA):c.1360-17C>G
NM_000308.4(CTSA):c.1360-17C>T
NM_000308.4(CTSA):c.1360-5C>T
NM_000308.4(CTSA):c.1360-7T>C
NM_000308.4(CTSA):c.1360-8C>A
NM_000308.4(CTSA):c.1360-9G>A
NM_000308.4(CTSA):c.1362C>T (p.Gly454=)
NM_000308.4(CTSA):c.1383C>G (p.Thr461=)
NM_000308.4(CTSA):c.1383C>T (p.Thr461=)
NM_000308.4(CTSA):c.1395C>T (p.Leu465=)
NM_000308.4(CTSA):c.1425G>C (p.Leu475=) rs2083137493
NM_000308.4(CTSA):c.1428C>T (p.Asn476=)
NM_000308.4(CTSA):c.143del (p.Arg48fs)
NM_000308.4(CTSA):c.1440C>T (p.Tyr480=)
NM_000308.4(CTSA):c.15G>A (p.Ala5=)
NM_000308.4(CTSA):c.15_19dup (p.Pro7fs)
NM_000308.4(CTSA):c.171C>A (p.Ser57=)
NM_000308.4(CTSA):c.171C>T (p.Ser57=)
NM_000308.4(CTSA):c.176C>T (p.Ser59Phe)
NM_000308.4(CTSA):c.189C>T (p.His63=)
NM_000308.4(CTSA):c.18G>T (p.Pro6=)
NM_000308.4(CTSA):c.191A>C (p.Tyr64Ser)
NM_000308.4(CTSA):c.193T>C (p.Trp65Arg) rs28934603
NM_000308.4(CTSA):c.194+3C>T rs1986958974
NM_000308.4(CTSA):c.194+7C>T
NM_000308.4(CTSA):c.194+8G>T
NM_000308.4(CTSA):c.195-10C>T
NM_000308.4(CTSA):c.195-12C>G
NM_000308.4(CTSA):c.195-13A>T
NM_000308.4(CTSA):c.195-15T>C
NM_000308.4(CTSA):c.195-15_195-8del
NM_000308.4(CTSA):c.195-7dup rs780400265
NM_000308.4(CTSA):c.1A>G (p.Met1Val)
NM_000308.4(CTSA):c.219C>T (p.Pro73=) rs742035
NM_000308.4(CTSA):c.230del (p.Pro77fs) rs587779402
NM_000308.4(CTSA):c.233T>C (p.Val78Ala) rs1055279552
NM_000308.4(CTSA):c.242G>A (p.Trp81Ter)
NM_000308.4(CTSA):c.246C>A (p.Leu82=) rs750478435
NM_000308.4(CTSA):c.248A>G (p.Asn83Ser) rs758876717
NM_000308.4(CTSA):c.253_254dup (p.Pro86fs)
NM_000308.4(CTSA):c.254G>T (p.Gly85Val) rs1360623902
NM_000308.4(CTSA):c.257C>T (p.Pro86Leu) rs2145814296
NM_000308.4(CTSA):c.258C>T (p.Pro86=)
NM_000308.4(CTSA):c.269C>T (p.Ser90Leu) rs137854542
NM_000308.4(CTSA):c.275_278del (p.Asp92fs)
NM_000308.4(CTSA):c.282C>T (p.Leu94=)
NM_000308.4(CTSA):c.294T>C (p.His98=)
NM_000308.4(CTSA):c.306+11A>C
NM_000308.4(CTSA):c.306+13C>G
NM_000308.4(CTSA):c.306+14A>G
NM_000308.4(CTSA):c.306+15G>A
NM_000308.4(CTSA):c.306+15G>C
NM_000308.4(CTSA):c.306+2T>A
NM_000308.4(CTSA):c.306+7G>C
NM_000308.4(CTSA):c.307-13C>G
NM_000308.4(CTSA):c.307-17A>G
NM_000308.4(CTSA):c.307-20G>A
NM_000308.4(CTSA):c.307-6C>T
NM_000308.4(CTSA):c.307-7T>C
NM_000308.4(CTSA):c.309C>T (p.Val103=)
NM_000308.4(CTSA):c.31_34del (p.Leu11fs)
NM_000308.4(CTSA):c.321T>C (p.Gly107=)
NM_000308.4(CTSA):c.33GCT[10] (p.Leu18_Leu19dup) rs72555383
NM_000308.4(CTSA):c.33GCT[11] (p.Leu17_Leu19dup) rs72555383
NM_000308.4(CTSA):c.33GCT[4] (p.Leu16_Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[5] (p.Leu17_Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup) rs72555383
NM_000308.4(CTSA):c.350G>A (p.Trp117Ter)
NM_000308.4(CTSA):c.357+10del
NM_000308.4(CTSA):c.357+13C>G
NM_000308.4(CTSA):c.357+19G>A
NM_000308.4(CTSA):c.357+3A>G rs1413013327
NM_000308.4(CTSA):c.358-11C>T
NM_000308.4(CTSA):c.358-20A>C
NM_000308.4(CTSA):c.358-2A>G
NM_000308.4(CTSA):c.358-4_358-3del
NM_000308.4(CTSA):c.358-5T>C
NM_000308.4(CTSA):c.358-5T>G rs375266196
NM_000308.4(CTSA):c.358-8C>A
NM_000308.4(CTSA):c.359T>C (p.Ile120Thr) rs1601139705
NM_000308.4(CTSA):c.366T>C (p.Asn122=)
NM_000308.4(CTSA):c.376del (p.Leu126fs)
NM_000308.4(CTSA):c.378G>C (p.Leu126=)
NM_000308.4(CTSA):c.380A>T (p.Glu127Val) rs2145815136
NM_000308.4(CTSA):c.381G>A (p.Glu127=)
NM_000308.4(CTSA):c.387A>C (p.Pro129=)
NM_000308.4(CTSA):c.388G>C (p.Ala130Pro) rs376642070
NM_000308.4(CTSA):c.411C>T (p.Ser137=)
NM_000308.4(CTSA):c.425A>G (p.Tyr142Cys) rs2145815279
NM_000308.4(CTSA):c.426T>C (p.Tyr142=)
NM_000308.4(CTSA):c.428C>T (p.Ala143Val)
NM_000308.4(CTSA):c.42G>T (p.Leu14=)
NM_000308.4(CTSA):c.432T>G (p.Thr144=)
NM_000308.4(CTSA):c.444+10del
NM_000308.4(CTSA):c.444+15T>C
NM_000308.4(CTSA):c.444+7C>A
NM_000308.4(CTSA):c.445-10C>G
NM_000308.4(CTSA):c.445-10C>T
NM_000308.4(CTSA):c.445-14T>C
NM_000308.4(CTSA):c.445-18_447del rs1987030082
NM_000308.4(CTSA):c.445-1G>C
NM_000308.4(CTSA):c.445-4C>T
NM_000308.4(CTSA):c.445-7T>C
NM_000308.4(CTSA):c.447C>T (p.Val149=)
NM_000308.4(CTSA):c.44T>A (p.Leu15Gln)
NM_000308.4(CTSA):c.463G>T (p.Glu155Ter)
NM_000308.4(CTSA):c.467C>T (p.Ala156Val)
NM_000308.4(CTSA):c.471T>A (p.Leu157=)
NM_000308.4(CTSA):c.474A>G (p.Gln158=)
NM_000308.4(CTSA):c.480C>T (p.Phe160=)
NM_000308.4(CTSA):c.484C>T (p.Arg162Cys)
NM_000308.4(CTSA):c.489C>T (p.Leu163=)
NM_000308.4(CTSA):c.507C>T (p.Asn169=)
NM_000308.4(CTSA):c.510C>T (p.Asn170=)
NM_000308.4(CTSA):c.516T>G (p.Leu172=)
NM_000308.4(CTSA):c.517_518del (p.Phe173fs) rs769812697
NM_000308.4(CTSA):c.518del (p.Phe173fs)
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del) rs886039898
NM_000308.4(CTSA):c.521T>C (p.Leu174Pro) rs2145815915
NM_000308.4(CTSA):c.522G>T (p.Leu174=)
NM_000308.4(CTSA):c.52C>T (p.Leu18=)
NM_000308.4(CTSA):c.535T>C (p.Tyr179His)
NM_000308.4(CTSA):c.549C>T (p.Tyr183=)
NM_000308.4(CTSA):c.54G>C (p.Leu18=) rs181943893
NM_000308.4(CTSA):c.54G>T (p.Leu18=) rs181943893
NM_000308.4(CTSA):c.553C>A (p.Pro185Thr)
NM_000308.4(CTSA):c.558C>G (p.Thr186=)
NM_000308.4(CTSA):c.558C>T (p.Thr186=)
NM_000308.4(CTSA):c.565G>A (p.Val189Met)
NM_000308.4(CTSA):c.568C>T (p.Leu190=) rs2145816049
NM_000308.4(CTSA):c.570G>A (p.Leu190=)
NM_000308.4(CTSA):c.574A>C (p.Met192Leu) rs1987042851
NM_000308.4(CTSA):c.57A>G (p.Leu19=)
NM_000308.4(CTSA):c.580G>A (p.Asp194Asn) rs2145816069
NM_000308.4(CTSA):c.594C>A (p.Asn198Lys) rs147908449
NM_000308.4(CTSA):c.594C>T (p.Asn198=)
NM_000308.4(CTSA):c.595del (p.Leu199fs) rs786205670
NM_000308.4(CTSA):c.600+13T>C
NM_000308.4(CTSA):c.600+14_600+15insGG rs2145816155
NM_000308.4(CTSA):c.600+15C>T rs2145816162
NM_000308.4(CTSA):c.601-2A>C
NM_000308.4(CTSA):c.601-4A>C
NM_000308.4(CTSA):c.601-4A>G
NM_000308.4(CTSA):c.601-5C>G
NM_000308.4(CTSA):c.601-5C>T
NM_000308.4(CTSA):c.601-8T>C
NM_000308.4(CTSA):c.60G>A (p.Val20=)
NM_000308.4(CTSA):c.618T>C (p.Asn206=)
NM_000308.4(CTSA):c.621A>G (p.Gly207=)
NM_000308.4(CTSA):c.625_626del (p.Ser209fs)
NM_000308.4(CTSA):c.630C>G (p.Ser210=)
NM_000308.4(CTSA):c.632A>T (p.Tyr211Phe)
NM_000308.4(CTSA):c.648C>T (p.Asn216=)
NM_000308.4(CTSA):c.669C>T (p.Tyr223=)
NM_000308.4(CTSA):c.678C>T (p.Gly226=)
NM_000308.4(CTSA):c.67G>A (p.Ala23Thr) rs1986939703
NM_000308.4(CTSA):c.692+17T>C
NM_000308.4(CTSA):c.692+20G>A
NM_000308.4(CTSA):c.692+3A>G rs786200859
NM_000308.4(CTSA):c.692+9T>C
NM_000308.4(CTSA):c.693-11_693-9del rs560285370
NM_000308.4(CTSA):c.693-14C>G
NM_000308.4(CTSA):c.693-14C>T
NM_000308.4(CTSA):c.693-18C>T
NM_000308.4(CTSA):c.693-20T>C
NM_000308.4(CTSA):c.693-7_693-5del
NM_000308.4(CTSA):c.69G>T (p.Ala23=)
NM_000308.4(CTSA):c.6C>A (p.Ile2=)
NM_000308.4(CTSA):c.708C>A (p.Leu236=)
NM_000308.4(CTSA):c.708C>G (p.Leu236=)
NM_000308.4(CTSA):c.717C>T (p.His239=)
NM_000308.4(CTSA):c.726T>C (p.Ser242=)
NM_000308.4(CTSA):c.729A>G (p.Gln243=)
NM_000308.4(CTSA):c.736T>C (p.Cys246Arg) rs1177744429
NM_000308.4(CTSA):c.741C>T (p.Asn247=) rs1231031573
NM_000308.4(CTSA):c.753C>A (p.Asn251Lys)
NM_000308.4(CTSA):c.755A>G (p.Lys252Arg) rs1412365614
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter) rs767712946
NM_000308.4(CTSA):c.768C>T (p.Cys256=)
NM_000308.4(CTSA):c.772A>G (p.Thr258Ala)
NM_000308.4(CTSA):c.777+11G>A rs2145818040
NM_000308.4(CTSA):c.777+12C>T
NM_000308.4(CTSA):c.777+9C>T
NM_000308.4(CTSA):c.778-17T>C
NM_000308.4(CTSA):c.778-18C>T
NM_000308.4(CTSA):c.778-19G>A
NM_000308.4(CTSA):c.778-8C>G
NM_000308.4(CTSA):c.786A>G (p.Glu262=)
NM_000308.4(CTSA):c.789G>T (p.Val263=)
NM_000308.4(CTSA):c.792C>G (p.Ala264=)
NM_000308.4(CTSA):c.798C>T (p.Ile266=)
NM_000308.4(CTSA):c.799G>A (p.Val267Met) rs1327727683
NM_000308.4(CTSA):c.804C>G (p.Gly268=)
NM_000308.4(CTSA):c.816C>T (p.Leu272=)
NM_000308.4(CTSA):c.819C>T (p.Asn273=)
NM_000308.4(CTSA):c.830T>C (p.Leu277Pro) rs1987145050
NM_000308.4(CTSA):c.833_834del (p.Tyr278fs) rs875989777
NM_000308.4(CTSA):c.843T>A (p.Cys281Ter)
NM_000308.4(CTSA):c.846T>C (p.Ala282=)
NM_000308.4(CTSA):c.847G>A (p.Gly283Arg)
NM_000308.4(CTSA):c.848G>C (p.Gly283Ala)
NM_000308.4(CTSA):c.855G>A (p.Val285=)
NM_000308.4(CTSA):c.869+12T>C
NM_000308.4(CTSA):c.869+18C>G
NM_000308.4(CTSA):c.869+19C>T
NM_000308.4(CTSA):c.870-10C>G
NM_000308.4(CTSA):c.870-15C>A
NM_000308.4(CTSA):c.870-15del rs3215446
NM_000308.4(CTSA):c.870-19C>T
NM_000308.4(CTSA):c.870-6T>C
NM_000308.4(CTSA):c.870-7A>G
NM_000308.4(CTSA):c.870-8C>A
NM_000308.4(CTSA):c.873T>G (p.Tyr291Ter)
NM_000308.4(CTSA):c.874G>C (p.Glu292Gln) rs771968194
NM_000308.4(CTSA):c.882C>T (p.Asp294=)
NM_000308.4(CTSA):c.885T>C (p.Thr295=) rs143206710
NM_000308.4(CTSA):c.892G>T (p.Val298Phe)
NM_000308.4(CTSA):c.911T>C (p.Ile304Thr)
NM_000308.4(CTSA):c.919C>T (p.Arg307Cys) rs2145819152
NM_000308.4(CTSA):c.91G>A (p.Asp31Asn) rs961795659
NM_000308.4(CTSA):c.931A>C (p.Lys311Gln)
NM_000308.4(CTSA):c.935G>A (p.Arg312Gln)
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter) rs200565348
NM_000308.4(CTSA):c.948+12C>T
NM_000308.4(CTSA):c.948+13G>A
NM_000308.4(CTSA):c.948+13G>T rs199925152
NM_000308.4(CTSA):c.948+13_954delinsAGA
NM_000308.4(CTSA):c.948+17G>A
NM_000308.4(CTSA):c.948+1G>A
NM_000308.4(CTSA):c.948G>A (p.Gln316=) rs2145819241
NM_000308.4(CTSA):c.949-11G>T
NM_000308.4(CTSA):c.949-13C>T
NM_000308.4(CTSA):c.949-16T>C
NM_000308.4(CTSA):c.949-18A>C
NM_000308.4(CTSA):c.94C>T (p.Gln32Ter)
NM_000308.4(CTSA):c.951A>G (p.Ala317=)
NM_000308.4(CTSA):c.954G>A (p.Leu318=)
NM_000308.4(CTSA):c.960C>T (p.Arg320=) rs1987169608
NM_000308.4(CTSA):c.963A>G (p.Ser321=)
NM_000308.4(CTSA):c.966G>C (p.Gly322=)
NM_000308.4(CTSA):c.967G>A (p.Asp323Asn)
NM_000308.4(CTSA):c.975G>A (p.Val325=)
NM_000308.4(CTSA):c.97G>A (p.Asp33Asn) rs2145813484
NM_000308.4(CTSA):c.985C>A (p.Pro329Thr) rs746428492
NM_000308.4(CTSA):c.985C>G (p.Pro329Ala) rs746428492
NM_000308.4(CTSA):c.990dup (p.Cys331fs) rs758642867
NM_000308.4(CTSA):c.999C>T (p.Asn333=)

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