NM_024580.6(EFL1):c.2358T>C (p.Gly786=)
|
rs905450
|
0.81375
|
NM_024580.6(EFL1):c.2990-36T>C
|
rs2457497
|
0.81008
|
NM_024580.6(EFL1):c.731+18T>C
|
rs1972460
|
0.40011
|
NM_003136.4(SRP54):c.1327+16_1327+32del
|
rs369856554
|
0.16649
|
NM_016038.4(SBDS):c.201A>G (p.Lys67=)
|
rs1061695
|
0.08712
|
NM_016038.4(SBDS):c.129-71G>A
|
rs62466589
|
0.04156
|
NM_016038.4(SBDS):c.651C>T (p.Phe217=)
|
rs73151675
|
0.03660
|
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
|
rs79344818
|
0.02573
|
NM_016038.4(SBDS):c.258+19A>G
|
rs186000847
|
0.01143
|
NM_016038.4(SBDS):c.141C>T (p.Leu47=)
|
rs113993989
|
0.00747
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_001012339.3(DNAJC21):c.1186-531G>A
|
rs112971776
|
0.00144
|
NM_003136.4(SRP54):c.636A>C (p.Ile212=)
|
rs140228686
|
0.00113
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00099
|
NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln)
|
rs77129269
|
0.00036
|
NM_016038.4(SBDS):c.388G>A (p.Val130Met)
|
rs201070132
|
0.00009
|
NM_024580.6(EFL1):c.1398A>G (p.Gln466=)
|
rs374308281
|
0.00009
|
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln)
|
rs376095522
|
0.00004
|
NM_024580.6(EFL1):c.89A>G (p.His30Arg)
|
rs370108445
|
0.00004
|
NM_024580.6(EFL1):c.2224A>G (p.Ile742Val)
|
rs765113282
|
0.00003
|
NM_001012339.3(DNAJC21):c.983+1G>A
|
rs368148362
|
0.00002
|
NM_016038.4(SBDS):c.173T>C (p.Val58Ala)
|
rs747222022
|
0.00002
|
NM_016038.4(SBDS):c.258+1G>C
|
rs113993992
|
0.00002
|
NM_024580.6(EFL1):c.3205A>G (p.Thr1069Ala)
|
rs756494164
|
0.00002
|
NM_016038.4(SBDS):c.13del (p.Thr5fs)
|
rs772797192
|
0.00001
|
NM_016038.4(SBDS):c.377G>C (p.Arg126Thr)
|
rs113993995
|
0.00001
|
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)
|
rs113993996
|
0.00001
|
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)
|
rs774976459
|
0.00001
|
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)
|
rs113993998
|
0.00001
|
NM_024580.6(EFL1):c.1232T>A (p.Ile411Asn)
|
rs775430621
|
0.00001
|
NM_024580.6(EFL1):c.2645T>A (p.Met882Lys)
|
rs1316615934
|
0.00001
|
NM_024580.6(EFL1):c.2908C>T (p.Arg970Cys)
|
rs757808847
|
0.00001
|
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala)
|
rs1441937959
|
0.00001
|
NM_024580.6(EFL1):c.787C>G (p.Leu263Val)
|
rs751006899
|
0.00001
|
NC_000007.14:g.66971410_66990307del
|
|
|
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln)
|
rs142389949
|
|
NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs)
|
rs756768331
|
|
NM_003135.3(SRP19):c.189+5G>A
|
rs1322282571
|
|
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala)
|
rs1555354200
|
|
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)
|
rs1555354198
|
|
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)
|
rs1555354750
|
|
NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu)
|
rs1950780024
|
|
NM_016038.2(SBDS):c.625-1delG
|
rs1792914342
|
|
NM_016038.4(SBDS):c.101dup (p.Asn34fs)
|
|
|
NM_016038.4(SBDS):c.120del (p.Ser41fs)
|
rs113993990
|
|
NM_016038.4(SBDS):c.128+3G>C
|
|
|
NM_016038.4(SBDS):c.131A>G (p.Glu44Gly)
|
rs1554341516
|
|
NM_016038.4(SBDS):c.167T>C (p.Val56Ala)
|
rs1584437592
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_016038.4(SBDS):c.18del (p.Thr7fs)
|
rs1584439050
|
|
NM_016038.4(SBDS):c.199A>G (p.Lys67Glu)
|
rs1554341499
|
|
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)
|
rs28942099
|
|
NM_016038.4(SBDS):c.258+347_459+223del
|
|
|
NM_016038.4(SBDS):c.260T>G (p.Ile87Ser)
|
rs1554341363
|
|
NM_016038.4(SBDS):c.297_300del (p.Glu99fs)
|
rs113993994
|
|
NM_016038.4(SBDS):c.305_308del (p.Thr102fs)
|
rs745661722
|
|
NM_016038.4(SBDS):c.326G>C (p.Arg109Thr)
|
rs2129232269
|
|
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs)
|
rs1411636529
|
|
NM_016038.4(SBDS):c.460-1G>A
|
rs1792969582
|
|
NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)
|
|
|
NM_016038.4(SBDS):c.541A>G (p.Asn181Asp)
|
|
|
NM_016038.4(SBDS):c.624+1G>C
|
rs113993997
|
|
NM_016038.4(SBDS):c.629G>A (p.Cys210Tyr)
|
rs2129231218
|
|
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln)
|
rs757497272
|
|
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr)
|
rs373730800
|
|
NM_024580.6(EFL1):c.1434G>C (p.Glu478Asp)
|
rs2292189
|
|
NM_024580.6(EFL1):c.1492G>A (p.Glu498Lys)
|
rs2074689405
|
|
NM_024580.6(EFL1):c.1514T>C (p.Phe505Ser)
|
rs763132789
|
|
NM_024580.6(EFL1):c.1971C>G (p.His657Gln)
|
rs779232326
|
|
NM_024580.6(EFL1):c.2260C>T (p.Arg754Ter)
|
rs1330065864
|
|
NM_024580.6(EFL1):c.2478dup (p.Gly827fs)
|
rs1380341628
|
|
NM_024580.6(EFL1):c.2632C>A (p.Leu878Ile)
|
|
|
NM_024580.6(EFL1):c.2647T>G (p.Cys883Gly)
|
rs2141228362
|
|
NM_024580.6(EFL1):c.2866C>A (p.Pro956Thr)
|
rs1457781093
|
|
NM_024580.6(EFL1):c.3271A>C (p.Met1091Leu)
|
|
|