NM_000396.4(CTSK):c.120+1G>A
|
rs1057517279
|
0.00003
|
NM_000396.4(CTSK):c.934C>G (p.Arg312Gly)
|
rs375958814
|
0.00003
|
NM_006019.4(TCIRG1):c.117+1G>A
|
rs377303800
|
0.00002
|
NM_006019.4(TCIRG1):c.1555-2A>C
|
rs758977199
|
0.00002
|
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)
|
rs371277428
|
0.00001
|
NM_000396.4(CTSK):c.289_290del (p.Leu97fs)
|
rs773943327
|
0.00001
|
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)
|
rs29001685
|
0.00001
|
NM_006019.4(TCIRG1):c.-5+1G>T
|
rs917505107
|
0.00001
|
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)
|
rs1338631330
|
0.00001
|
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)
|
rs749361897
|
0.00001
|
NM_000396.4(CTSK):c.121-2A>G
|
rs1057516587
|
|
NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter)
|
rs780202604
|
|
NM_000396.4(CTSK):c.243+1G>A
|
rs1057517263
|
|
NM_000396.4(CTSK):c.26T>C (p.Leu9Pro)
|
rs1057517252
|
|
NM_000396.4(CTSK):c.395dup (p.Asn132fs)
|
rs1057516725
|
|
NM_000396.4(CTSK):c.399+2del
|
rs1057516839
|
|
NM_000396.4(CTSK):c.3G>A (p.Met1Ile)
|
rs778368118
|
|
NM_000396.4(CTSK):c.3G>T (p.Met1Ile)
|
rs778368118
|
|
NM_000396.4(CTSK):c.400-1G>C
|
rs1553197262
|
|
NM_000396.4(CTSK):c.423_450del (p.Phe142fs)
|
rs1057516627
|
|
NM_000396.4(CTSK):c.426del (p.Phe142fs)
|
rs1057516514
|
|
NM_000396.4(CTSK):c.48del (p.Tyr17fs)
|
rs1057516790
|
|
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter)
|
rs202040269
|
|
NM_000396.4(CTSK):c.576_577delinsG (p.Asn192fs)
|
rs1553197239
|
|
NM_000396.4(CTSK):c.618+1G>A
|
rs1553197230
|
|
NM_000396.4(CTSK):c.648del (p.Lys217fs)
|
rs1057516891
|
|
NM_000396.4(CTSK):c.669del (p.Tyr224fs)
|
rs1553196945
|
|
NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs)
|
rs758450569
|
|
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)
|
rs74315303
|
|
NM_000396.4(CTSK):c.784+1G>A
|
rs1553196934
|
|
NM_000396.4(CTSK):c.826del (p.His276fs)
|
rs1553196906
|
|
NM_000396.4(CTSK):c.830C>T (p.Ala277Val)
|
rs74315304
|
|
NM_000396.4(CTSK):c.876G>A (p.Trp292Ter)
|
rs1553196900
|
|
NM_000396.4(CTSK):c.891-21_892dup
|
rs1553196764
|
|
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)
|
rs375958814
|
|
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)
|
rs1159666762
|
|
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs)
|
rs1269558164
|
|
NM_006019.4(TCIRG1):c.117+4A>T
|
rs751881962
|
|
NM_006019.4(TCIRG1):c.1305+2T>C
|
rs1554997818
|
|
NM_006019.4(TCIRG1):c.1306-1G>A
|
rs1554997884
|
|
NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs)
|
rs1554997997
|
|
NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs)
|
rs1554998061
|
|
NM_006019.4(TCIRG1):c.1554+1G>T
|
rs1439348400
|
|
NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter)
|
rs1057517365
|
|
NM_006019.4(TCIRG1):c.1887+1G>C
|
rs1554999205
|
|
NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs)
|
rs1554999516
|
|
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)
|
rs1300297240
|
|
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter)
|
rs1554995009
|
|
NM_006019.4(TCIRG1):c.2415-2A>G
|
rs1555000376
|
|
NM_006019.4(TCIRG1):c.242del (p.Pro81fs)
|
rs1208311085
|
|
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs)
|
rs886048594
|
|
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter)
|
rs1554995330
|
|
NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs)
|
rs1554995350
|
|
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)
|
rs1554995341
|
|
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter)
|
rs1385741705
|
|
NM_006019.4(TCIRG1):c.503+1G>A
|
rs1554995381
|
|
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs)
|
rs1554995522
|
|
NM_006019.4(TCIRG1):c.630+1G>T
|
rs1554995582
|
|
NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs)
|
rs1554995706
|
|
NM_006019.4(TCIRG1):c.713+1G>C
|
rs774308815
|
|
NM_006019.4(TCIRG1):c.713+1G>T
|
rs774308815
|
|
NM_006019.4(TCIRG1):c.807+1G>T
|
rs1458295257
|
|