NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
NM_004937.3(CTNS):c.-635G>C
|
rs112140949
|
0.01378
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)
|
rs121908127
|
0.00004
|
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys)
|
rs113875421
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_004937.3(CTNS):c.635C>T (p.Ala212Val)
|
rs776658046
|
0.00004
|
NM_004937.3(CTNS):c.970+5G>A
|
rs753451110
|
0.00004
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.462-10C>T
|
rs765481486
|
0.00001
|
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)
|
rs113994208
|
0.00001
|
NM_004937.3(CTNS):c.646dup (p.Thr216fs)
|
rs893207601
|
0.00001
|
NM_004937.3(CTNS):c.668del (p.Cys223fs)
|
rs770145986
|
0.00001
|
NM_004937.3(CTNS):c.681+1G>A
|
rs749317721
|
0.00001
|
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)
|
rs746307931
|
0.00001
|
GRCh37/hg19 17p13.2(chr17:3539741-3561489)
|
|
|
NC_000017.10:g.(?_3539712)_(3543571_?)del
|
|
|
NC_000017.10:g.(?_3539712)_(3552235_?)del
|
|
|
NC_000017.10:g.(?_3539761)_3561464del
|
|
|
NC_000017.10:g.(?_3543501)_(3543581_?)del
|
|
|
NC_000017.10:g.(?_3543501)_(3552245_?)del
|
|
|
NC_000017.10:g.(?_3550728)_(3550826_?)del
|
|
|
NC_000017.10:g.(?_3558272)_(3560109_?)del
|
|
|
NC_000017.11:g.(?_3647424)_(3648951_?)del
|
|
|
NC_000017.11:g.(?_3647434)_(3648941_?)del
|
|
|
NC_000017.11:g.(?_3647444)_(3658175_?)del
|
|
|
NC_000017.11:g.(?_3654988)_(3655362_?)del
|
|
|
NC_000017.11:g.(?_3657995)_(3660744_?)del
|
|
|
NC_000017.11:g.3636418G>T
|
rs887657778
|
|
NC_000017.11:g.3636418_3636419insT
|
|
|
NC_000017.11:g.3654998del
|
|
|
NC_000017.11:g.3659858del
|
rs2142981161
|
|
NC_000017.11:g.3660238_3660245del
|
|
|
NM_001031681.2:c.(225+1_226-1)_(852+1_853-1)del
|
|
|
NM_004937.2:c.661insT
|
|
|
NM_004937.3(CTNS):c.1000del (p.Thr334fs)
|
rs2142982656
|
|
NM_004937.3(CTNS):c.1027_1038del (p.Ile343_Asp346del)
|
|
|
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)
|
rs748094459
|
|
NM_004937.3(CTNS):c.120del (p.Asn41fs)
|
rs879255616
|
|
NM_004937.3(CTNS):c.140+1G>A
|
|
|
NM_004937.3(CTNS):c.140+1G>T
|
rs1567701415
|
|
NM_004937.3(CTNS):c.140+1del
|
rs2150904759
|
|
NM_004937.3(CTNS):c.140+2T>C
|
rs2075872773
|
|
NM_004937.3(CTNS):c.141-24T>C
|
|
|
NM_004937.3(CTNS):c.152_153insCT (p.Ala52fs)
|
rs2150906974
|
|
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)
|
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
NM_004937.3(CTNS):c.1A>T (p.Met1Leu)
|
rs2075650925
|
|
NM_004937.3(CTNS):c.204del (p.Ile69fs)
|
|
|
NM_004937.3(CTNS):c.206_210del (p.Ile69fs)
|
rs879758262
|
|
NM_004937.3(CTNS):c.225+1G>A
|
rs1555561049
|
|
NM_004937.3(CTNS):c.225+3A>T
|
|
|
NM_004937.3(CTNS):c.225+5_225+6delinsCC
|
rs786204541
|
|
NM_004937.3(CTNS):c.257_258del (p.Ser86fs)
|
rs879255614
|
|
NM_004937.3(CTNS):c.274C>T (p.Gln92Ter)
|
rs2150919035
|
|
NM_004937.3(CTNS):c.27del (p.Phe9fs)
|
rs2150888913
|
|
NM_004937.3(CTNS):c.283G>T (p.Gly95Ter)
|
rs121908124
|
|
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
|
|
|
NM_004937.3(CTNS):c.292dup (p.Thr98fs)
|
rs786204434
|
|
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)
|
rs376042415
|
|
NM_004937.3(CTNS):c.314_317del (p.His105fs)
|
|
|
NM_004937.3(CTNS):c.323del (p.Gln108fs)
|
rs879255615
|
|
NM_004937.3(CTNS):c.329+2T>C
|
rs955833453
|
|
NM_004937.3(CTNS):c.329G>T (p.Gly110Val)
|
rs121908129
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
NM_004937.3(CTNS):c.405dup (p.Val136fs)
|
|
|
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)
|
rs1555558099
|
|
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)
|
rs1436441738
|
|
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)
|
rs1597647930
|
|
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter)
|
rs2076101632
|
|
NM_004937.3(CTNS):c.449G>A (p.Trp150Ter)
|
rs2076101974
|
|
NM_004937.3(CTNS):c.479del (p.Phe160fs)
|
rs2076150607
|
|
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)
|
rs121908126
|
|
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)
|
rs1555563446
|
|
NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)
|
rs745365232
|
|
NM_004937.3(CTNS):c.539_551del (p.Leu180fs)
|
rs2150922730
|
|
NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)
|
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)
|
rs1597654770
|
|
NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer)
|
rs1567695026
|
|
NM_004937.3(CTNS):c.61+5G>A
|
rs1407498555
|
|
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)
|
rs760256854
|
|
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)
|
rs2150889009
|
|
NM_004937.3(CTNS):c.61_61+2del
|
rs2075652654
|
|
NM_004937.3(CTNS):c.62-1G>A
|
rs1597619719
|
|
NM_004937.3(CTNS):c.62-1G>T
|
rs1597619719
|
|
NM_004937.3(CTNS):c.62-2864_225+2278del
|
|
|
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
|
|
|
NM_004937.3(CTNS):c.681+8del
|
rs2150923282
|
|
NM_004937.3(CTNS):c.681G>A (p.Glu227=)
|
rs778414542
|
|
NM_004937.3(CTNS):c.682-1G>T
|
rs1057516771
|
|
NM_004937.3(CTNS):c.682-2A>C
|
|
|
NM_004937.3(CTNS):c.686_699del (p.Gly229fs)
|
|
|
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)
|
rs1555563982
|
|
NM_004937.3(CTNS):c.696dup (p.Val233fs)
|
rs113994209
|
|
NM_004937.3(CTNS):c.699_700del (p.Ser234fs)
|
rs766981777
|
|
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)
|
rs763089013
|
|
NM_004937.3(CTNS):c.735G>A (p.Trp245Ter)
|
rs2150925108
|
|
NM_004937.3(CTNS):c.741del (p.Phe247fs)
|
|
|
NM_004937.3(CTNS):c.751_752del (p.Thr251fs)
|
|
|
NM_004937.3(CTNS):c.768dup (p.Val257fs)
|
rs1567713938
|
|
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)
|
rs759623796
|
|
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter)
|
rs2076198741
|
|
NM_004937.3(CTNS):c.790_791del (p.Gln264fs)
|
rs2076198775
|
|
NM_004937.3(CTNS):c.809_811del (p.Ser270del)
|
rs786204632
|
|
NM_004937.3(CTNS):c.829dup (p.Thr277fs)
|
rs752919200
|
|
NM_004937.3(CTNS):c.82_83del (p.Val28fs)
|
rs2150904623
|
|
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)
|
rs2150925451
|
|
NM_004937.3(CTNS):c.841dup (p.Tyr281fs)
|
rs1411094034
|
|
NM_004937.3(CTNS):c.853-2A>G
|
rs1475322504
|
|
NM_004937.3(CTNS):c.853-3C>G
|
rs113994210
|
|
NM_004937.3(CTNS):c.85_86del (p.Pro29fs)
|
|
|
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)
|
rs776842972
|
|
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)
|
rs917630768
|
|
NM_004937.3(CTNS):c.91dup (p.Val31fs)
|
rs879255613
|
|
NM_004937.3(CTNS):c.922G>C (p.Gly308Arg)
|
rs746307931
|
|
NM_004937.3(CTNS):c.923G>T (p.Gly308Val)
|
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|
NM_004937.3(CTNS):c.936_945del (p.Ser312fs)
|
|
|
NM_004937.3(CTNS):c.943C>T (p.Gln315Ter)
|
|
|
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)
|
rs121908128
|
|
NM_004937.3(CTNS):c.971-12G>A
|
rs375952052
|
|