NM_004937.3(CTNS):c.327C>T (p.Thr109=)
|
rs150554216
|
0.00141
|
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)
|
rs140326392
|
0.00072
|
NM_004937.3(CTNS):c.562-20T>C
|
rs764063960
|
0.00042
|
NM_004937.3(CTNS):c.661G>A (p.Val221Met)
|
rs138270433
|
0.00029
|
NM_004937.3(CTNS):c.697G>A (p.Val233Met)
|
rs201058200
|
0.00018
|
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)
|
rs1314998853
|
0.00015
|
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu)
|
rs149689304
|
0.00014
|
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys)
|
rs138823792
|
0.00011
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_004937.3(CTNS):c.684C>T (p.Arg228=)
|
rs762346133
|
0.00009
|
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser)
|
rs200313254
|
0.00006
|
NM_004937.3(CTNS):c.225+19C>T
|
rs550960394
|
0.00005
|
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)
|
rs187396540
|
0.00005
|
NM_004937.3(CTNS):c.1035C>T (p.Phe345=)
|
rs149007536
|
0.00004
|
NM_004937.3(CTNS):c.1038C>T (p.Asp346=)
|
rs771450572
|
0.00004
|
NM_004937.3(CTNS):c.407T>G (p.Val136Gly)
|
rs764372178
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_004937.3(CTNS):c.562-16C>T
|
rs776712980
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_004937.3(CTNS):c.831G>T (p.Thr277=)
|
rs533147998
|
0.00003
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_004937.3(CTNS):c.61+20G>A
|
rs760019018
|
0.00002
|
NM_004937.3(CTNS):c.140+3A>G
|
rs778641729
|
0.00001
|
NM_004937.3(CTNS):c.140G>A (p.Arg47Gln)
|
rs745744798
|
0.00001
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)
|
rs754433265
|
0.00001
|
NM_004937.3(CTNS):c.61+2T>C
|
rs767289120
|
0.00001
|
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)
|
rs768600603
|
0.00001
|
NM_004937.3(CTNS):c.646dup (p.Thr216fs)
|
rs893207601
|
0.00001
|
NM_004937.3(CTNS):c.681+1G>A
|
rs749317721
|
0.00001
|
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys)
|
rs764538705
|
0.00001
|
NM_004937.3(CTNS):c.729C>T (p.Leu243=)
|
rs762142619
|
0.00001
|
NM_004937.3(CTNS):c.822C>T (p.Leu274=)
|
rs150773117
|
0.00001
|
NM_004937.3(CTNS):c.823G>A (p.Ala275Thr)
|
rs752869556
|
0.00001
|
NM_004937.3(CTNS):c.82G>C (p.Val28Leu)
|
rs759921102
|
0.00001
|
GRCh37/hg19 17p13.2(chr17:3539741-3561489)
|
|
|
NM_004937.3(CTNS):c.141-8C>T
|
rs768912772
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
NM_004937.3(CTNS):c.425_427del (p.Phe142del)
|
rs1178364162
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.61+5G>A
|
rs1407498555
|
|
NM_004937.3(CTNS):c.682-1G>T
|
rs1057516771
|
|
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys)
|
rs1463026342
|
|
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)
|
rs1555563982
|
|
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu)
|
rs1567713916
|
|
NM_004937.3(CTNS):c.829dup (p.Thr277fs)
|
rs752919200
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|