NC_000017.11:g.(?_3636418)_(3656815_?)del


NC_000017.11:g.(?_3636418)_(3658185_?)del


NC_000017.11:g.(?_3636418)_(3658195_?)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


NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)

rs121908127 
NM_004937.3(CTNS):c.1029C>A (p.Ile343=)


NM_004937.3(CTNS):c.1035C>T (p.Phe345=)

rs149007536 
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)

rs560868487 
NM_004937.3(CTNS):c.108C>T (p.Asn36=)

rs117404824 
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)

rs144751390 
NM_004937.3(CTNS):c.117G>A (p.Ser39=)

rs765428193 
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)

rs35086888 
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp)


NM_004937.3(CTNS):c.140+1G>T

rs1567701415 
NM_004937.3(CTNS):c.140+2T>C


NM_004937.3(CTNS):c.1411G>A


NM_004937.3(CTNS):c.1414A>C

rs1437667230 
NM_004937.3(CTNS):c.156A>G (p.Ala52=)

rs1597623923 
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)

rs786204501 
NM_004937.3(CTNS):c.206_210del (p.Ile69fs)

rs879758262 
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn)

rs139364393 
NM_004937.3(CTNS):c.285A>T (p.Gly95=)

rs373998956 
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)


NM_004937.3(CTNS):c.300T>C (p.Tyr100=)

rs376042415 
NM_004937.3(CTNS):c.327C>T (p.Thr109=)

rs150554216 
NM_004937.3(CTNS):c.341G>A (p.Arg114His)

rs559362332 
NM_004937.3(CTNS):c.356G>A (p.Arg119His)

rs375970075 
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)

rs187396540 
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser)

rs200313254 
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)

rs550254092 
NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter)


NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)

rs113994205 
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)


NM_004937.3(CTNS):c.461+10del

rs377470989 
NM_004937.3(CTNS):c.4627C>A

rs189632527 
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)

rs113994206 
NM_004937.3(CTNS):c.480C>T (p.Phe160=)

rs147565118 
NM_004937.3(CTNS):c.510C>T (p.Phe170=)

rs747488464 
NM_004937.3(CTNS):c.516C>T (p.Ala172=)

rs143405190 
NM_004937.3(CTNS):c.534C>T (p.Ile178=)

rs113967200 
NM_004937.3(CTNS):c.559_561+24del

rs113994211 
NM_004937.3(CTNS):c.561+4C>T

rs111256750 
NM_004937.3(CTNS):c.587dup (p.Asn196fs)

rs1597654857 
NM_004937.3(CTNS):c.588C>T (p.Asn196=)

rs757955245 
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)

rs113994207 
NM_004937.3(CTNS):c.609C>T (p.Ser203=)

rs200273011 
NM_004937.3(CTNS):c.61+5G>A


NM_004937.3(CTNS):c.612C>T (p.Asn204=)

rs200170842 
NM_004937.3(CTNS):c.61_61+2del


NM_004937.3(CTNS):c.621G>A

rs1597619719 
NM_004937.3(CTNS):c.621G>T


NM_004937.3(CTNS):c.646dup (p.Thr216fs)

rs893207601 
NM_004937.3(CTNS):c.66A>C (p.Ser22=)

rs748125070 
NM_004937.3(CTNS):c.681+1G>A


NM_004937.3(CTNS):c.6821G>T

rs1057516771 
NM_004937.3(CTNS):c.684C>T (p.Arg228=)

rs762346133 
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter)

rs1463026342 
NM_004937.3(CTNS):c.695G>A (p.Arg232His)

rs142641674 
NM_004937.3(CTNS):c.751_754delinsCG (p.Thr251fs)

rs1555564051 
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)

rs759623796 
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter)


NM_004937.3(CTNS):c.790_791del (p.Gln264fs)


NM_004937.3(CTNS):c.817A>G (p.Lys273Glu)


NM_004937.3(CTNS):c.822C>T (p.Leu274=)

rs150773117 
NM_004937.3(CTNS):c.829dup (p.Thr277fs)

rs752919200 
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)

rs1314998853 
NM_004937.3(CTNS):c.834G>A (p.Leu278=)

rs139519275 
NM_004937.3(CTNS):c.838A>C (p.Lys280Gln)


NM_004937.3(CTNS):c.841dup (p.Tyr281fs)


NM_004937.3(CTNS):c.852+8C>T

rs780856527 
NM_004937.3(CTNS):c.8536G>T

rs775425630 
NM_004937.3(CTNS):c.897T>C (p.Ile299=)

rs199824920 
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)

rs746307931 
NM_004937.3(CTNS):c.926dup (p.Ser310fs)

rs786204420 
NM_004937.3(CTNS):c.969C>T (p.Asn323=)

rs121908128 
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)

rs140326392 
NM_004937.3(CTNS):c.97112G>A

rs375952052 