NM_000308.3(CTSA):c.-43G>T
|
rs116893852
|
0.01437
|
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_000308.4(CTSA):c.564C>T (p.Ala188=)
|
rs149793498
|
0.00051
|
NM_000308.4(CTSA):c.1059G>A (p.Pro353=)
|
rs74694805
|
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_000308.4(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.1036G>A (p.Val346Met)
|
rs137941635
|
0.00011
|
NM_000308.4(CTSA):c.870-15C>T
|
rs756803626
|
0.00011
|
NM_000308.4(CTSA):c.201G>A (p.Val67=)
|
rs149268665
|
0.00009
|
NM_000308.4(CTSA):c.1110C>T (p.Tyr370=)
|
rs372617705
|
0.00006
|
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.1341C>T (p.Ile447=)
|
rs530181128
|
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.1255-14T>C
|
rs760814659
|
0.00002
|
NM_000308.4(CTSA):c.444+18C>T
|
rs1258174043
|
0.00002
|
NM_000308.4(CTSA):c.987C>T (p.Pro329=)
|
rs761023765
|
0.00002
|
NM_000308.4(CTSA):c.-13C>A
|
rs748154467
|
0.00001
|
NM_000308.4(CTSA):c.1101C>T (p.Asn367=)
|
rs201234134
|
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.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.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.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.777+20T>C
|
rs564493992
|
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+9T>G
|
rs761952251
|
0.00001
|
NM_000308.3(CTSA):c.6T>C (p.Thr2=)
|
|
|
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+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.-28T>C
|
|
|
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.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.1008T>G (p.Ala336=)
|
|
|
NM_000308.4(CTSA):c.1011T>G (p.Ala337=)
|
|
|
NM_000308.4(CTSA):c.1032G>A (p.Pro344=)
|
|
|
NM_000308.4(CTSA):c.1032G>C (p.Pro344=)
|
|
|
NM_000308.4(CTSA):c.1035C>T (p.Tyr345=)
|
|
|
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.1074A>G (p.Gln358=)
|
|
|
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+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.1089-6C>T
|
|
|
NM_000308.4(CTSA):c.1089-8C>T
|
|
|
NM_000308.4(CTSA):c.1113C>A (p.Arg371=)
|
|
|
NM_000308.4(CTSA):c.111C>A (p.Arg37=)
|
|
|
NM_000308.4(CTSA):c.1122C>T (p.Tyr374=)
|
|
|
NM_000308.4(CTSA):c.1158C>T (p.Ser386=)
|
|
|
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.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.1239T>C (p.Asp413=)
|
|
|
NM_000308.4(CTSA):c.1242C>T (p.Ser414=)
|
|
|
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+8A>G
|
|
|
NM_000308.4(CTSA):c.1255-18T>C
|
|
|
NM_000308.4(CTSA):c.1255-4G>A
|
|
|
NM_000308.4(CTSA):c.1255-4G>C
|
|
|
NM_000308.4(CTSA):c.1263G>A (p.Val421=)
|
|
|
NM_000308.4(CTSA):c.1293G>A (p.Gly431=)
|
|
|
NM_000308.4(CTSA):c.1299C>T (p.Ser433=)
|
|
|
NM_000308.4(CTSA):c.1305G>A (p.Glu435=)
|
|
|
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.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.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.1440C>T (p.Tyr480=)
|
|
|
NM_000308.4(CTSA):c.15G>A (p.Ala5=)
|
|
|
NM_000308.4(CTSA):c.171C>A (p.Ser57=)
|
|
|
NM_000308.4(CTSA):c.171C>T (p.Ser57=)
|
|
|
NM_000308.4(CTSA):c.189C>T (p.His63=)
|
|
|
NM_000308.4(CTSA):c.18G>T (p.Pro6=)
|
|
|
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.195-13A>T
|
|
|
NM_000308.4(CTSA):c.195-15T>C
|
|
|
NM_000308.4(CTSA):c.195-15_195-8del
|
|
|
NM_000308.4(CTSA):c.219C>T (p.Pro73=)
|
rs742035
|
|
NM_000308.4(CTSA):c.246C>A (p.Leu82=)
|
rs750478435
|
|
NM_000308.4(CTSA):c.258C>T (p.Pro86=)
|
|
|
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+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.321T>C (p.Gly107=)
|
|
|
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del)
|
rs72555383
|
|
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.358-11C>T
|
|
|
NM_000308.4(CTSA):c.358-20A>C
|
|
|
NM_000308.4(CTSA):c.358-4_358-3del
|
|
|
NM_000308.4(CTSA):c.358-5T>C
|
|
|
NM_000308.4(CTSA):c.358-8C>A
|
|
|
NM_000308.4(CTSA):c.366T>C (p.Asn122=)
|
|
|
NM_000308.4(CTSA):c.378G>C (p.Leu126=)
|
|
|
NM_000308.4(CTSA):c.381G>A (p.Glu127=)
|
|
|
NM_000308.4(CTSA):c.387A>C (p.Pro129=)
|
|
|
NM_000308.4(CTSA):c.411C>T (p.Ser137=)
|
|
|
NM_000308.4(CTSA):c.426T>C (p.Tyr142=)
|
|
|
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.445-4C>T
|
|
|
NM_000308.4(CTSA):c.445-7T>C
|
|
|
NM_000308.4(CTSA):c.447C>T (p.Val149=)
|
|
|
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.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.522G>T (p.Leu174=)
|
|
|
NM_000308.4(CTSA):c.52C>T (p.Leu18=)
|
|
|
NM_000308.4(CTSA):c.549C>T (p.Tyr183=)
|
|
|
NM_000308.4(CTSA):c.558C>G (p.Thr186=)
|
|
|
NM_000308.4(CTSA):c.558C>T (p.Thr186=)
|
|
|
NM_000308.4(CTSA):c.568C>T (p.Leu190=)
|
rs2145816049
|
|
NM_000308.4(CTSA):c.570G>A (p.Leu190=)
|
|
|
NM_000308.4(CTSA):c.594C>T (p.Asn198=)
|
|
|
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.601-4A>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.618T>C (p.Asn206=)
|
|
|
NM_000308.4(CTSA):c.621A>G (p.Gly207=)
|
|
|
NM_000308.4(CTSA):c.630C>G (p.Ser210=)
|
|
|
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.692+17T>C
|
|
|
NM_000308.4(CTSA):c.692+20G>A
|
|
|
NM_000308.4(CTSA):c.692+9T>C
|
|
|
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.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.741C>T (p.Asn247=)
|
rs1231031573
|
|
NM_000308.4(CTSA):c.768C>T (p.Cys256=)
|
|
|
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.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.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.870-19C>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.882C>T (p.Asp294=)
|
|
|
NM_000308.4(CTSA):c.885T>C (p.Thr295=)
|
rs143206710
|
|
NM_000308.4(CTSA):c.948+12C>T
|
|
|
NM_000308.4(CTSA):c.948+13G>A
|
|
|
NM_000308.4(CTSA):c.948+17G>A
|
|
|
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.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.975G>A (p.Val325=)
|
|
|
NM_000308.4(CTSA):c.999C>T (p.Asn333=)
|
|
|