NM_030943.4(AMN):c.1170-6C>T
|
rs386834164
|
0.00296
|
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe)
|
rs1800456
|
0.00054
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)
|
rs386833845
|
0.00033
|
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)
|
rs121434430
|
0.00027
|
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)
|
rs386833960
|
0.00019
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_153704.6(TMEM67):c.224-2del
|
rs386834190
|
0.00010
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
NM_015681.6(B9D1):c.341+2T>C
|
rs143149764
|
0.00009
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)
|
rs386833680
|
0.00006
|
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)
|
rs386833808
|
0.00006
|
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
|
rs386833909
|
0.00006
|
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)
|
rs386834202
|
0.00006
|
NM_000112.4(SLC26A2):c.700-1G>C
|
rs200963884
|
0.00005
|
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)
|
rs121965044
|
0.00005
|
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)
|
rs386833646
|
0.00005
|
NM_004260.4(RECQL4):c.3072del (p.Val1026fs)
|
rs386833852
|
0.00005
|
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)
|
rs386833915
|
0.00005
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_000111.3(SLC26A3):c.2063-1G>T
|
rs386833471
|
0.00004
|
NM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser)
|
rs386833479
|
0.00004
|
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)
|
rs386833553
|
0.00004
|
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)
|
rs386833560
|
0.00004
|
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)
|
rs386834010
|
0.00004
|
NM_003982.4(SLC7A7):c.625+1G>A
|
rs386833822
|
0.00004
|
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter)
|
rs386833851
|
0.00004
|
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
|
rs386833980
|
0.00004
|
NM_007035.4(KERA):c.835C>T (p.Arg279Ter)
|
rs386833986
|
0.00004
|
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)
|
rs193919336
|
0.00004
|
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)
|
rs386834136
|
0.00004
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
NM_000027.4(AGA):c.439T>C (p.Ser147Pro)
|
rs386833428
|
0.00003
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
NM_000111.3(SLC26A3):c.571-2A>G
|
rs386833486
|
0.00003
|
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)
|
rs386833497
|
0.00003
|
NM_000112.4(SLC26A2):c.403C>A (p.Gln135Lys)
|
rs386833504
|
0.00003
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)
|
rs386833650
|
0.00003
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_001079866.2(BCS1L):c.431G>A (p.Arg144Gln)
|
rs386833857
|
0.00003
|
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)
|
rs386833752
|
0.00003
|
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)
|
rs386833807
|
0.00003
|
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser)
|
rs386833848
|
0.00003
|
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)
|
rs386833887
|
0.00003
|
NM_006493.4(CLN5):c.522dup (p.Trp175fs)
|
rs386833979
|
0.00003
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)
|
rs386833589
|
0.00002
|
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)
|
rs386833640
|
0.00002
|
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)
|
rs386833695
|
0.00002
|
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)
|
rs386833697
|
0.00002
|
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)
|
rs386833755
|
0.00002
|
NM_003982.4(SLC7A7):c.1460del (p.Cys487fs)
|
rs386833809
|
0.00002
|
NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro)
|
rs386833814
|
0.00002
|
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)
|
rs386833818
|
0.00002
|
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)
|
rs386833874
|
0.00002
|
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)
|
rs386833880
|
0.00002
|
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)
|
rs386833912
|
0.00002
|
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)
|
rs386833933
|
0.00002
|
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter)
|
rs386833953
|
0.00002
|
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)
|
rs386833971
|
0.00002
|
NM_006493.4(CLN5):c.339+5G>C
|
rs202146713
|
0.00002
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)
|
rs386834053
|
0.00002
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)
|
rs386834113
|
0.00002
|
NM_000027.4(AGA):c.395-8A>G
|
rs386833426
|
0.00001
|
NM_000027.4(AGA):c.404T>C (p.Phe135Ser)
|
rs386833427
|
0.00001
|
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)
|
rs386833434
|
0.00001
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
NM_000027.4(AGA):c.940+1G>T
|
rs386833437
|
0.00001
|
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter)
|
rs386833439
|
0.00001
|
NM_000111.3(SLC26A3):c.1136G>C (p.Gly379Ala)
|
rs386833446
|
0.00001
|
NM_000111.3(SLC26A3):c.269_270dup (p.Gly91fs)
|
rs386833476
|
0.00001
|
NM_000111.3(SLC26A3):c.344del (p.Ile115fs)
|
rs386833478
|
0.00001
|
NM_000111.3(SLC26A3):c.408G>A (p.Met136Ile)
|
rs386833483
|
0.00001
|
NM_000112.4(SLC26A2):c.1451G>A (p.Gly484Asp)
|
rs386833496
|
0.00001
|
NM_000145.4(FSHR):c.1043C>G (p.Pro348Arg)
|
rs386833510
|
0.00001
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)
|
rs386833524
|
0.00001
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
NM_000170.3(GLDC):c.2186del (p.Ala729fs)
|
rs386833543
|
0.00001
|
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys)
|
rs386833544
|
0.00001
|
NM_000170.3(GLDC):c.2324A>G (p.His775Arg)
|
rs386833555
|
0.00001
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro)
|
rs386833571
|
0.00001
|
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter)
|
rs386833572
|
0.00001
|
NM_000170.3(GLDC):c.2919+1G>A
|
rs386833575
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)
|
rs386833598
|
0.00001
|
NM_000274.4(OAT):c.698A>G (p.Gln233Arg)
|
rs386833615
|
0.00001
|
NM_000274.4(OAT):c.748C>T (p.Arg250Ter)
|
rs386833617
|
0.00001
|
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)
|
rs386833618
|
0.00001
|
NM_000274.4(OAT):c.952G>A (p.Glu318Lys)
|
rs386833621
|
0.00001
|
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)
|
rs386833623
|
0.00001
|
NM_000310.4(PPT1):c.124+1G>A
|
rs386833628
|
0.00001
|
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)
|
rs386833639
|
0.00001
|
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)
|
rs386833642
|
0.00001
|
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)
|
rs386833645
|
0.00001
|
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)
|
rs386833649
|
0.00001
|
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)
|
rs386833655
|
0.00001
|
NM_000310.4(PPT1):c.566C>G (p.Pro189Arg)
|
rs386833658
|
0.00001
|
NM_000310.4(PPT1):c.628-1G>T
|
rs386833659
|
0.00001
|
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)
|
rs386833661
|
0.00001
|
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)
|
rs386833665
|
0.00001
|
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs)
|
rs386833672
|
0.00001
|
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys)
|
rs386833673
|
0.00001
|
NM_001042432.2(CLN3):c.1198-1G>T
|
rs386833702
|
0.00001
|
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)
|
rs386833703
|
0.00001
|
NM_001042432.2(CLN3):c.125+5G>A
|
rs386833704
|
0.00001
|
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)
|
rs386833709
|
0.00001
|
NM_001042432.2(CLN3):c.472G>C (p.Ala158Pro)
|
rs386833723
|
0.00001
|
NM_001042432.2(CLN3):c.622dup (p.Ser208fs)
|
rs386833736
|
0.00001
|
NM_001081.4(CUBN):c.1865del (p.Thr622fs)
|
rs386833771
|
0.00001
|
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)
|
rs386833781
|
0.00001
|
NM_001081.4(CUBN):c.4168G>A (p.Gly1390Ser)
|
rs386833787
|
0.00001
|
NM_001126105.2(SLC7A7):c.158C>T (p.Ser53Leu)
|
rs386833793
|
0.00001
|
NM_001378615.1(CC2D2A):c.2486+1G>C
|
rs386833747
|
0.00001
|
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter)
|
rs386833748
|
0.00001
|
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)
|
rs386833763
|
0.00001
|
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser)
|
rs386833833
|
0.00001
|
NM_003332.4(TYROBP):c.141del (p.Met48fs)
|
rs386833840
|
0.00001
|
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)
|
rs386833798
|
0.00001
|
NM_003982.4(SLC7A7):c.1387del (p.Val463fs)
|
rs386833806
|
0.00001
|
NM_003982.4(SLC7A7):c.418G>C (p.Ala140Pro)
|
rs386833815
|
0.00001
|
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)
|
rs386833844
|
0.00001
|
NM_004260.4(RECQL4):c.2059-1G>A
|
rs386833849
|
0.00001
|
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)
|
rs386833861
|
0.00001
|
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)
|
rs386833863
|
0.00001
|
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)
|
rs386833865
|
0.00001
|
NM_004646.4(NPHS1):c.1100G>A (p.Arg367His)
|
rs200905486
|
0.00001
|
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu)
|
rs386833867
|
0.00001
|
NM_004646.4(NPHS1):c.1126C>G (p.Leu376Val)
|
rs386833868
|
0.00001
|
NM_004646.4(NPHS1):c.1481del (p.Ser494fs)
|
rs386833883
|
0.00001
|
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)
|
rs386833884
|
0.00001
|
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn)
|
rs386833889
|
0.00001
|
NM_004646.4(NPHS1):c.191G>C (p.Trp64Ser)
|
rs386833897
|
0.00001
|
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)
|
rs386833899
|
0.00001
|
NM_004646.4(NPHS1):c.2043G>T (p.Trp681Cys)
|
rs386833900
|
0.00001
|
NM_004646.4(NPHS1):c.2500G>T (p.Val834Phe)
|
rs386833917
|
0.00001
|
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)
|
rs386833920
|
0.00001
|
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn)
|
rs386833932
|
0.00001
|
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val)
|
rs386833934
|
0.00001
|
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)
|
rs386833951
|
0.00001
|
NM_004646.4(NPHS1):c.534del (p.Thr179fs)
|
rs386833952
|
0.00001
|
NM_004646.4(NPHS1):c.692C>A (p.Ser231Ter)
|
rs386833958
|
0.00001
|
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)
|
rs386833961
|
0.00001
|
NM_007035.4(KERA):c.391A>G (p.Asn131Asp)
|
rs386833985
|
0.00001
|
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs)
|
rs386833987
|
0.00001
|
NM_012434.5(SLC17A5):c.95-1G>C
|
rs386833995
|
0.00001
|
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter)
|
rs386834001
|
0.00001
|
NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro)
|
rs386834004
|
0.00001
|
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn)
|
rs386834008
|
0.00001
|
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)
|
rs386834014
|
0.00001
|
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)
|
rs386834018
|
0.00001
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)
|
rs386834050
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
NM_018941.4(CLN8):c.509C>T (p.Thr170Met)
|
rs188259026
|
0.00001
|
NM_018965.4(TREM2):c.313del (p.Ala105fs)
|
rs386834141
|
0.00001
|
NM_018965.4(TREM2):c.482+2T>C
|
rs386834144
|
0.00001
|
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)
|
rs386834146
|
0.00001
|
NM_030943.4(AMN):c.1257+10C>T
|
rs386834166
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs)
|
rs386834059
|
0.00001
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)
|
rs386834093
|
0.00001
|
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter)
|
rs386834099
|
0.00001
|
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys)
|
rs386834104
|
0.00001
|
NM_152564.5(VPS13B):c.7429+1G>A
|
rs386834106
|
0.00001
|
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)
|
rs386834107
|
0.00001
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter)
|
rs386834112
|
0.00001
|
NM_153704.6(TMEM67):c.161A>G (p.Tyr54Cys)
|
rs386834188
|
0.00001
|
NM_153704.6(TMEM67):c.2322+2dup
|
rs386834192
|
0.00001
|
NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys)
|
rs386834194
|
0.00001
|
NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter)
|
rs386834201
|
0.00001
|
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)
|
rs386834205
|
0.00001
|
NM_153704.6(TMEM67):c.888G>T (p.Trp296Cys)
|
rs386834208
|
0.00001
|
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer)
|
rs386833417
|
|
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla)
|
rs386833418
|
|
NM_000027.4(AGA):c.192T>A (p.Cys64Ter)
|
rs386833419
|
|
NM_000027.4(AGA):c.200_201del (p.Glu67fs)
|
rs386833420
|
|
NM_000027.4(AGA):c.299G>A (p.Gly100Glu)
|
rs386833421
|
|
NM_000027.4(AGA):c.336del (p.Ile112fs)
|
rs386833422
|
|
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)
|
rs386833423
|
|
NM_000027.4(AGA):c.369_373del (p.His124fs)
|
rs386833424
|
|
NM_000027.4(AGA):c.373_376del (p.Thr125fs)
|
rs386833425
|
|
NM_000027.4(AGA):c.44T>G (p.Leu15Arg)
|
rs386833429
|
|
NM_000027.4(AGA):c.754G>C (p.Gly252Arg)
|
rs386833432
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer)
|
rs386833435
|
|
NM_000100.4(CSTB):c.168G>A (p.Lys56=)
|
rs386833440
|
|
NM_000100.4(CSTB):c.169-2A>G
|
rs386833441
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000100.4(CSTB):c.66G>A (p.Gln22=)
|
rs386833443
|
|
NM_000111.3(SLC26A3):c.1028G>A (p.Cys343Tyr)
|
rs386833444
|
|
NM_000111.3(SLC26A3):c.1030_1047delinsGATGCC (p.Phe344_Val349delinsAspAla)
|
rs386833445
|
|
NM_000111.3(SLC26A3):c.1148_1149del (p.Ile383fs)
|
rs386833447
|
|
NM_000111.3(SLC26A3):c.1306C>T (p.Gln436Ter)
|
rs386833448
|
|
NM_000111.3(SLC26A3):c.1312-1G>A
|
rs386833449
|
|
NM_000111.3(SLC26A3):c.1342_1343del (p.Leu448fs)
|
rs386833450
|
|
NM_000111.3(SLC26A3):c.1360C>T (p.Gln454Ter)
|
rs386833451
|
|
NM_000111.3(SLC26A3):c.1362del (p.Gln454fs)
|
rs386833452
|
|
NM_000111.3(SLC26A3):c.1387C>T (p.Arg463Ter)
|
rs386833453
|
|
NM_000111.3(SLC26A3):c.1403A>T (p.Asp468Val)
|
rs386833454
|
|
NM_000111.3(SLC26A3):c.1408-1G>A
|
rs386833455
|
|
NM_000111.3(SLC26A3):c.145_157del (p.Lys49fs)
|
rs386833456
|
|
NM_000111.3(SLC26A3):c.1487T>G (p.Leu496Arg)
|
rs386833457
|
|
NM_000111.3(SLC26A3):c.1515-2del
|
rs386833458
|
|
NM_000111.3(SLC26A3):c.1517del (p.Pro506fs)
|
rs386833459
|
|
NM_000111.3(SLC26A3):c.1526_1527del (p.Ser509fs)
|
rs386833460
|
|
NM_000111.3(SLC26A3):c.1551_1554del (p.Asn518fs)
|
rs386833461
|
|
NM_000111.3(SLC26A3):c.1559A>G (p.Tyr520Cys)
|
rs386833462
|
|
NM_000111.3(SLC26A3):c.1563G>C (p.Lys521Asn)
|
rs386833463
|
|
NM_000111.3(SLC26A3):c.1576TAT[1] (p.Tyr527del)
|
rs386833464
|
|
NM_000111.3(SLC26A3):c.1609del (p.Ile537fs)
|
rs386833465
|
|
NM_000111.3(SLC26A3):c.1624_1626delinsC (p.Ser542fs)
|
rs386833466
|
|
NM_000111.3(SLC26A3):c.1631T>A (p.Ile544Asn)
|
rs386833467
|
|
NM_000111.3(SLC26A3):c.177dup (p.Ile60fs)
|
rs386833468
|
|
NM_000111.3(SLC26A3):c.1990del (p.Ser663_Val664insTer)
|
rs386833469
|
|
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup)
|
rs121913031
|
|
NM_000111.3(SLC26A3):c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT (p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe)
|
rs386833472
|
|
NM_000111.3(SLC26A3):c.2116del (p.Ser706fs)
|
rs386833473
|
|
NM_000111.3(SLC26A3):c.2132T>G (p.Leu711Ter)
|
rs386833474
|
|
NM_000111.3(SLC26A3):c.2205+3A>G
|
rs386833475
|
|
NM_000111.3(SLC26A3):c.332del (p.Phe111fs)
|
rs386833477
|
|
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu)
|
rs386833480
|
|
NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg)
|
rs386833481
|
|
NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu)
|
rs386833481
|
|
NM_000111.3(SLC26A3):c.392del (p.Pro131fs)
|
rs386833482
|
|
NM_000111.3(SLC26A3):c.525G>C (p.Arg175Ser)
|
rs386833484
|
|
NM_000111.3(SLC26A3):c.571-1G>T
|
rs386833485
|
|
NM_000111.3(SLC26A3):c.610T>G (p.Tyr204Asp)
|
rs386833487
|
|
NM_000111.3(SLC26A3):c.616T>C (p.Ser206Pro)
|
rs386833488
|
|
NM_000111.3(SLC26A3):c.659A>C (p.His220Pro)
|
rs386833489
|
|
NM_000111.3(SLC26A3):c.915C>A (p.Tyr305Ter)
|
rs386833490
|
|
NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val)
|
rs386833493
|
|
NM_000112.4(SLC26A2):c.1242_1245del (p.Asn415fs)
|
rs386833494
|
|
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs)
|
rs386833495
|
|
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)
|
rs386833498
|
|
NM_000112.4(SLC26A2):c.1976del (p.Phe658_Leu659insTer)
|
rs386833499
|
|
NM_000112.4(SLC26A2):c.1983del (p.Ala662fs)
|
rs386833500
|
|
NM_000112.4(SLC26A2):c.2120_2121del (p.Leu707fs)
|
rs386833501
|
|
NM_000112.4(SLC26A2):c.255del (p.Asn87fs)
|
rs386833502
|
|
NM_000112.4(SLC26A2):c.331G>T (p.Asp111Tyr)
|
rs386833503
|
|
NM_000112.4(SLC26A2):c.47C>G (p.Ser16Ter)
|
rs386833505
|
|
NM_000112.4(SLC26A2):c.496G>A (p.Gly166Arg)
|
rs386833506
|
|
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)
|
rs386833507
|
|
NM_000112.4(SLC26A2):c.705_711del (p.Met236fs)
|
rs386833508
|
|
NM_000112.4(SLC26A2):c.906_907del (p.Leu302_Cys303insTer)
|
rs386833509
|
|
NM_000145.4(FSHR):c.1724C>T (p.Ala575Val)
|
rs386833511
|
|
NM_000145.4(FSHR):c.1760C>A (p.Pro587His)
|
rs386833512
|
|
NM_000145.4(FSHR):c.1801C>G (p.Leu601Val)
|
rs386833513
|
|
NM_000145.4(FSHR):c.662T>G (p.Val221Gly)
|
rs386833514
|
|
NM_000145.4(FSHR):c.671A>T (p.Asp224Val)
|
rs386833515
|
|
NM_000170.3(GLDC):c.1002dup (p.Ala335fs)
|
rs386833516
|
|
NM_000170.3(GLDC):c.1054del (p.Thr352fs)
|
rs386833518
|
|
NM_000170.3(GLDC):c.1111C>G (p.His371Asp)
|
rs386833519
|
|
NM_000170.3(GLDC):c.1175del (p.Ala392fs)
|
rs386833520
|
|
NM_000170.3(GLDC):c.1285_1286insCAAA (p.Leu429fs)
|
rs386833522
|
|
NM_000170.3(GLDC):c.1319T>A (p.Ile440Asn)
|
rs386833523
|
|
NM_000170.3(GLDC):c.1402-1G>C
|
rs386833525
|
|
NM_000170.3(GLDC):c.1444dup (p.Asp482fs)
|
rs386833526
|
|
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg)
|
rs386833527
|
|
NM_000170.3(GLDC):c.1597A>T (p.Asn533Tyr)
|
rs386833528
|
|
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)
|
rs386833529
|
|
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr)
|
rs386833530
|
|
NM_000170.3(GLDC):c.1822_1832del (p.Tyr608fs)
|
rs386833532
|
|
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly)
|
rs386833533
|
|
NM_000170.3(GLDC):c.1926+1G>A
|
rs386833534
|
|
NM_000170.3(GLDC):c.1931G>T (p.Cys644Phe)
|
rs386833535
|
|
NM_000170.3(GLDC):c.1952A>G (p.His651Arg)
|
rs386833536
|
|
NM_000170.3(GLDC):c.1996C>T (p.Gln666Ter)
|
rs386833537
|
|
NM_000170.3(GLDC):c.2080G>C (p.Ala694Pro)
|
rs386833538
|
|
NM_000170.3(GLDC):c.2098C>G (p.Pro700Ala)
|
rs386833539
|
|
NM_000170.3(GLDC):c.2105C>T (p.Thr702Ile)
|
rs386833540
|
|
NM_000170.3(GLDC):c.2153_2155delinsTCCTGGTTTA (p.His718_Gln719delinsLeuLeuValTer)
|
rs386833541
|
|
NM_000170.3(GLDC):c.2182G>C (p.Gly728Arg)
|
rs386833542
|
|
NM_000170.3(GLDC):c.2203-2A>G
|
rs386833545
|
|
NM_000170.3(GLDC):c.2213_2214del (p.Cys738fs)
|
rs386833546
|
|
NM_000170.3(GLDC):c.2258A>C (p.His753Pro)
|
rs386833547
|
|
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del)
|
rs121964975
|
|
NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg)
|
rs386833550
|
|
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser)
|
rs386833551
|
|
NM_000170.3(GLDC):c.2306C>T (p.Pro769Leu)
|
rs386833552
|
|
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)
|
rs386833557
|
|
NM_000170.3(GLDC):c.2422del (p.Ser808fs)
|
rs386833558
|
|
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp)
|
rs386833559
|
|
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys)
|
rs386833561
|
|
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro)
|
rs386833562
|
|
NM_000170.3(GLDC):c.255+1G>A
|
rs386833563
|
|
NM_000170.3(GLDC):c.2574T>G (p.Tyr858Ter)
|
rs386833564
|
|
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)
|
rs386833566
|
|
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter)
|
rs386833567
|
|
NM_000170.3(GLDC):c.2838+5G>A
|
rs386833568
|
|
NM_000170.3(GLDC):c.2839-1G>C
|
rs386833569
|
|
NM_000170.3(GLDC):c.2846C>T (p.Pro949Leu)
|
rs386833570
|
|
NM_000170.3(GLDC):c.2896A>G (p.Arg966Gly)
|
rs386833573
|
|
NM_000170.3(GLDC):c.28del (p.Leu10fs)
|
rs386833574
|
|
NM_000170.3(GLDC):c.395C>G (p.Ser132Trp)
|
rs386833576
|
|
NM_000170.3(GLDC):c.413A>T (p.Tyr138Phe)
|
rs386833577
|
|
NM_000170.3(GLDC):c.449A>C (p.Asn150Thr)
|
rs386833578
|
|
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter)
|
rs386833579
|
|
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)
|
rs386833580
|
|
NM_000170.3(GLDC):c.513G>C (p.Gly171=)
|
rs386833581
|
|
NM_000170.3(GLDC):c.560C>A (p.Thr187Lys)
|
rs386833582
|
|
NM_000170.3(GLDC):c.605C>T (p.Ala202Val)
|
rs386833583
|
|
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys)
|
rs386833584
|
|
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)
|
rs386833585
|
|
NM_000170.3(GLDC):c.793del (p.Gln265fs)
|
rs386833586
|
|
NM_000170.3(GLDC):c.808G>T (p.Glu270Ter)
|
rs386833588
|
|
NM_000170.3(GLDC):c.861+1G>T
|
rs386833590
|
|
NM_000170.3(GLDC):c.887T>G (p.Leu296Arg)
|
rs386833591
|
|
NM_000170.3(GLDC):c.937G>C (p.Ala313Pro)
|
rs386833592
|
|
NM_000170.3(GLDC):c.985C>A (p.Pro329Thr)
|
rs386833593
|
|
NM_000274.4(OAT):c.1031del (p.Asn344fs)
|
rs386833594
|
|
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu)
|
rs386833595
|
|
NM_000274.4(OAT):c.1172G>A (p.Trp391Ter)
|
rs386833596
|
|
NM_000274.4(OAT):c.1181G>A (p.Cys394Tyr)
|
rs386833597
|
|
NM_000274.4(OAT):c.159del (p.His53fs)
|
rs386833599
|
|
NM_000274.4(OAT):c.192_193del (p.Gly65fs)
|
rs386833600
|
|
NM_000274.4(OAT):c.199+303C>G
|
rs386833601
|
|
NM_000274.4(OAT):c.267C>A (p.Asn89Lys)
|
rs386833602
|
|
NM_000274.4(OAT):c.272G>A (p.Gly91Glu)
|
rs386833603
|
|
NM_000274.4(OAT):c.311A>G (p.Gln104Arg)
|
rs386833604
|
|
NM_000274.4(OAT):c.362G>A (p.Gly121Asp)
|
rs386833605
|
|
NM_000274.4(OAT):c.370GAG[1] (p.Glu125del)
|
rs386833606
|
|
NM_000274.4(OAT):c.381dup (p.Thr128fs)
|
rs386833607
|
|
NM_000274.4(OAT):c.425-2A>G
|
rs386833608
|
|
NM_000274.4(OAT):c.425-4_429del
|
rs386833609
|
|
NM_000274.4(OAT):c.425G>A (p.Gly142Glu)
|
rs386833610
|
|
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del)
|
rs386833611
|
|
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer)
|
rs386833612
|
|
NM_000274.4(OAT):c.542C>T (p.Thr181Met)
|
rs386833613
|
|
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr)
|
rs386833614
|
|
NM_000274.4(OAT):c.710G>A (p.Gly237Asp)
|
rs386833616
|
|
NM_000274.4(OAT):c.901-2A>G
|
rs386833619
|
|
NM_000274.4(OAT):c.952del (p.Glu318fs)
|
rs386833620
|
|
NM_000274.4(OAT):c.978T>A (p.Asn326Lys)
|
rs386833622
|
|
NM_000274.4(OAT):c.994G>A (p.Val332Met)
|
rs121965047
|
|
NM_000310.4(PPT1):c.*526_*529del
|
rs386833624
|
|
NM_000310.4(PPT1):c.114G>A (p.Trp38Ter)
|
rs386833626
|
|
NM_000310.4(PPT1):c.114G>T (p.Trp38Cys)
|
rs386833626
|
|
NM_000310.4(PPT1):c.114del (p.Trp38fs)
|
rs386833625
|
|
NM_000310.4(PPT1):c.117T>A (p.His39Gln)
|
rs386833627
|
|
NM_000310.4(PPT1):c.125-15T>G
|
rs386833629
|
|
NM_000310.4(PPT1):c.125-2A>G
|
rs386833630
|
|
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)
|
rs386833631
|
|
NM_000310.4(PPT1):c.135_137dup (p.Cys46dup)
|
rs386833632
|
|
NM_000310.4(PPT1):c.163A>T (p.Lys55Ter)
|
rs386833633
|
|
NM_000310.4(PPT1):c.169dup (p.Met57fs)
|
rs386833634
|
|
NM_000310.4(PPT1):c.175del (p.Glu59fs)
|
rs386833635
|
|
NM_000310.4(PPT1):c.235-3T>C
|
rs386833636
|
|
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del)
|
rs386833637
|
|
NM_000310.4(PPT1):c.271_287delinsTT (p.Gln91_Cys96delinsPhe)
|
rs386833638
|
|
NM_000310.4(PPT1):c.310A>T (p.Lys104Ter)
|
rs386833641
|
|
NM_000310.4(PPT1):c.363-3T>G
|
rs386833643
|
|
NM_000310.4(PPT1):c.398del (p.Met133fs)
|
rs386833644
|
|
NM_000310.4(PPT1):c.455G>A (p.Cys152Tyr)
|
rs386833647
|
|
NM_000310.4(PPT1):c.456C>A (p.Cys152Ter)
|
rs386833648
|
|
NM_000310.4(PPT1):c.536+1G>A
|
rs386833651
|
|
NM_000310.4(PPT1):c.536+2T>C
|
rs386833652
|
|
NM_000310.4(PPT1):c.538dup (p.Leu180fs)
|
rs386833653
|
|
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)
|
rs148412181
|
|
NM_000310.4(PPT1):c.544C>T (p.Gln182Ter)
|
rs386833654
|
|
NM_000310.4(PPT1):c.558G>A (p.Trp186Ter)
|
rs386833656
|
|
NM_000310.4(PPT1):c.560A>G (p.His187Arg)
|
rs386833657
|
|
NM_000310.4(PPT1):c.644del (p.Tyr215fs)
|
rs386833660
|
|
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)
|
rs386833662
|
|
NM_000310.4(PPT1):c.683T>G (p.Val228Gly)
|
rs386833663
|
|
NM_000310.4(PPT1):c.727-2A>T
|
rs386833664
|
|
NM_000310.4(PPT1):c.749G>T (p.Gly250Val)
|
rs386833666
|
|
NM_000310.4(PPT1):c.774dup (p.Gln259fs)
|
rs386833667
|
|
NM_000310.4(PPT1):c.871C>T (p.Gln291Ter)
|
rs386833668
|
|
NM_000310.4(PPT1):c.886T>C (p.Trp296Arg)
|
rs386833669
|
|
NM_000310.4(PPT1):c.888G>A (p.Trp296Ter)
|
rs386833670
|
|
NM_000310.4(PPT1):c.914T>C (p.Leu305Pro)
|
rs386833671
|
|
NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr)
|
rs386833674
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000481.4(AMT):c.139G>T (p.Gly47Trp)
|
rs121964982
|
|
NM_000481.4(AMT):c.148del (p.Val50fs)
|
rs386833678
|
|
NM_000481.4(AMT):c.259-1G>C
|
rs386833681
|
|
NM_000481.4(AMT):c.434A>T (p.Asn145Ile)
|
rs386833682
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
NM_000481.4(AMT):c.535del (p.Leu179fs)
|
rs386833685
|
|
NM_000481.4(AMT):c.59del (p.Pro20fs)
|
rs386833686
|
|
NM_000481.4(AMT):c.61del (p.Ala21fs)
|
rs386833687
|
|
NM_000481.4(AMT):c.63del (p.Leu22fs)
|
rs386833688
|
|
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys)
|
rs386833689
|
|
NM_000481.4(AMT):c.970_972del (p.Met324del)
|
rs386833691
|
|
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)
|
rs386833692
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
NM_001042432.2(CLN3):c.1048del (p.Leu350fs)
|
rs386833696
|
|
NM_001042432.2(CLN3):c.1056+3A>C
|
rs386833698
|
|
NM_001042432.2(CLN3):c.1056G>C (p.Gln352His)
|
rs386833699
|
|
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)
|
rs386833700
|
|
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)
|
rs386833701
|
|
NM_001042432.2(CLN3):c.126-1G>A
|
rs386833705
|
|
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter)
|
rs386833706
|
|
NM_001042432.2(CLN3):c.1272del (p.Leu425fs)
|
rs386833707
|
|
NM_001042432.2(CLN3):c.1A>C (p.Met1Leu)
|
rs386833708
|
|
NM_001042432.2(CLN3):c.222+2T>G
|
rs386833710
|
|
NM_001042432.2(CLN3):c.222+5G>C
|
rs386833711
|
|
NM_001042432.2(CLN3):c.233dup (p.Thr80fs)
|
rs386833712
|
|
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)
|
rs386833713
|
|
NM_001042432.2(CLN3):c.302T>C (p.Leu101Pro)
|
rs386833714
|
|
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs)
|
rs386833715
|
|
NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn)
|
rs386833716
|
|
NM_001042432.2(CLN3):c.378_379dup (p.Arg127fs)
|
rs386833717
|
|
NM_001042432.2(CLN3):c.379del (p.Arg127fs)
|
rs386833717
|
|
NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg)
|
rs386833719
|
|
NM_001042432.2(CLN3):c.424del (p.Val142fs)
|
rs386833720
|
|
NM_001042432.2(CLN3):c.461-13G>C
|
rs386833721
|
|
NM_001042432.2(CLN3):c.461-1G>A
|
rs386833722
|
|
NM_001042432.2(CLN3):c.461-1G>C
|
rs386833722
|
|
NM_001042432.2(CLN3):c.482C>G (p.Ser161Ter)
|
rs386833724
|
|
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter)
|
rs386833725
|
|
NM_001042432.2(CLN3):c.49G>T (p.Glu17Ter)
|
rs386833726
|
|
NM_001042432.2(CLN3):c.509T>C (p.Leu170Pro)
|
rs386833727
|
|
NM_001042432.2(CLN3):c.533+1G>A
|
rs386833728
|
|
NM_001042432.2(CLN3):c.533+1G>C
|
rs386833728
|
|
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)
|
rs386833729
|
|
NM_001042432.2(CLN3):c.560G>C (p.Gly187Ala)
|
rs386833730
|
|
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg)
|
rs386833731
|
|
NM_001042432.2(CLN3):c.569del (p.Gly190fs)
|
rs386833732
|
|
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)
|
rs386833733
|
|
NM_001042432.2(CLN3):c.582G>T (p.Leu194=)
|
rs386833734
|
|
NM_001042432.2(CLN3):c.586dup (p.Ala196fs)
|
rs386833735
|
|
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)
|
rs386833737
|
|
NM_001042432.2(CLN3):c.790+3A>C
|
rs386833738
|
|
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)
|
rs121434286
|
|
NM_001042432.2(CLN3):c.906+5G>A
|
rs386833739
|
|
NM_001042432.2(CLN3):c.944dup (p.His315fs)
|
rs386833740
|
|
NM_001042432.2(CLN3):c.954_962+18del
|
rs386833741
|
|
NM_001042432.2(CLN3):c.963-1G>T
|
rs386833742
|
|
NM_001042432.2(CLN3):c.979C>T (p.Gln327Ter)
|
rs386833743
|
|
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe)
|
rs386833744
|
|
NM_001079866.2(BCS1L):c.-49-539T>A
|
rs386833855
|
|
NM_001079866.2(BCS1L):c.320+1G>T
|
rs386833856
|
|
NM_001079866.2(BCS1L):c.980T>C (p.Val327Ala)
|
rs386833858
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001081.4(CUBN):c.1230+1G>A
|
rs386833766
|
|
NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter)
|
rs386833767
|
|
NM_001081.4(CUBN):c.1526del (p.Gly509fs)
|
rs386833768
|
|
NM_001081.4(CUBN):c.1530G>A (p.Lys510=)
|
rs386833769
|
|
NM_001081.4(CUBN):c.1838del (p.Gly613fs)
|
rs386833770
|
|
NM_001081.4(CUBN):c.1951C>T (p.Arg651Ter)
|
rs182512508
|
|
NM_001081.4(CUBN):c.2068A>G (p.Ile690Val)
|
rs386833772
|
|
NM_001081.4(CUBN):c.2486C>T (p.Ser829Leu)
|
rs386833773
|
|
NM_001081.4(CUBN):c.250C>T (p.Gln84Ter)
|
rs386833774
|
|
NM_001081.4(CUBN):c.2515_2533del (p.Glu839fs)
|
rs386833775
|
|
NM_001081.4(CUBN):c.252+1G>A
|
rs386833776
|
|
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)
|
rs386833777
|
|
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)
|
rs386833778
|
|
NM_001081.4(CUBN):c.2949C>A (p.Tyr983Ter)
|
rs386833779
|
|
NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter)
|
rs386833780
|
|
NM_001081.4(CUBN):c.3330-439C>G
|
rs386833782
|
|
NM_001081.4(CUBN):c.3577T>G (p.Trp1193Gly)
|
rs386833783
|
|
NM_001081.4(CUBN):c.3749C>T (p.Ser1250Phe)
|
rs386833784
|
|
NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter)
|
rs386833785
|
|
NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg)
|
rs386833786
|
|
NM_001081.4(CUBN):c.434G>A (p.Gly145Glu)
|
rs386833788
|
|
NM_001081.4(CUBN):c.489G>A (p.Lys163=)
|
rs386833789
|
|
NM_001081.4(CUBN):c.673T>A (p.Cys225Ser)
|
rs386833790
|
|
NM_001081.4(CUBN):c.889C>T (p.Gln297Ter)
|
rs386833791
|
|
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)
|
rs386833794
|
|
NM_001126105.2(SLC7A7):c.14C>T (p.Thr5Ile)
|
rs386833792
|
|
NM_001173990.3(TMEM216):c.230G>C (p.Gly77Ala)
|
rs386833830
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg)
|
rs386833831
|
|
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr)
|
rs281864928
|
|
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs)
|
rs386833745
|
|
NM_001378615.1(CC2D2A):c.1537T>A (p.Trp513Arg)
|
rs386833746
|
|
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)
|
rs386833749
|
|
NM_001378615.1(CC2D2A):c.3145C>G (p.Arg1049Gly)
|
rs386833750
|
|
NM_001378615.1(CC2D2A):c.3399-3C>A
|
rs386833753
|
|
NM_001378615.1(CC2D2A):c.3522_3523insTG (p.His1175fs)
|
rs386833754
|
|
NM_001378615.1(CC2D2A):c.3584del (p.Phe1195fs)
|
rs386833756
|
|
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)
|
rs386833757
|
|
NM_001378615.1(CC2D2A):c.3893T>A (p.Val1298Asp)
|
rs386833758
|
|
NM_001378615.1(CC2D2A):c.3975+4_3975+7del
|
rs386833759
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001378615.1(CC2D2A):c.4496+2T>A
|
rs386833762
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)
|
rs386833765
|
|
NM_002299.4(LCT):c.1692_1696del (p.Val565fs)
|
rs386833832
|
|
NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter)
|
rs386833834
|
|
NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter)
|
rs386833835
|
|
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs)
|
rs386833836
|
|
NM_002299.4(LCT):c.5387del (p.Asp1796fs)
|
rs386833837
|
|
NM_002299.4(LCT):c.653_654del (p.Ser218fs)
|
rs386833838
|
|
NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn)
|
rs386833839
|
|
NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg)
|
rs386833841
|
|
NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter)
|
rs386833842
|
|
NM_003982.4(SLC7A7):c.1013G>A (p.Gly338Asp)
|
rs386833795
|
|
NM_003982.4(SLC7A7):c.106_108del (p.Glu36del)
|
rs386833796
|
|
NM_003982.4(SLC7A7):c.1093A>T (p.Asn365Tyr)
|
rs386833797
|
|
NM_003982.4(SLC7A7):c.1158C>A (p.Ser386Arg)
|
rs386833799
|
|
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)
|
rs386833800
|
|
NM_003982.4(SLC7A7):c.1262del (p.Pro421fs)
|
rs386833801
|
|
NM_003982.4(SLC7A7):c.1273T>C (p.Cys425Arg)
|
rs386833802
|
|
NM_003982.4(SLC7A7):c.1344del (p.Ile449fs)
|
rs386833803
|
|
NM_003982.4(SLC7A7):c.1371C>A (p.Tyr457Ter)
|
rs386833804
|
|
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs)
|
rs386833805
|
|
NM_003982.4(SLC7A7):c.1465T>C (p.Ser489Pro)
|
rs386833810
|
|
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys)
|
rs386833811
|
|
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs)
|
rs386833812
|
|
NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs)
|
rs386833813
|
|
NM_003982.4(SLC7A7):c.454T>C (p.Phe152Leu)
|
rs386833816
|
|
NM_003982.4(SLC7A7):c.499+1G>A
|
rs386833817
|
|
NM_003982.4(SLC7A7):c.563C>T (p.Thr188Ile)
|
rs386833819
|
|
NM_003982.4(SLC7A7):c.571A>G (p.Lys191Glu)
|
rs386833820
|
|
NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter)
|
rs386833821
|
|
NM_003982.4(SLC7A7):c.625+1G>C
|
rs386833822
|
|
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)
|
rs386833823
|
|
NM_003982.4(SLC7A7):c.753G>T (p.Glu251Asp)
|
rs386833824
|
|
NM_003982.4(SLC7A7):c.782T>C (p.Leu261Pro)
|
rs386833825
|
|
NM_003982.4(SLC7A7):c.820dup (p.Tyr274fs)
|
rs386833826
|
|
NM_003982.4(SLC7A7):c.894+1G>T
|
rs386833827
|
|
NM_003982.4(SLC7A7):c.895-2A>G
|
rs146582474
|
|
NM_003982.4(SLC7A7):c.998+1G>T
|
rs386833828
|
|
NM_003982.4(SLC7A7):c.998G>T (p.Arg333Met)
|
rs386833829
|
|
NM_004260.4(RECQL4):c.1885_1888del (p.Arg629fs)
|
rs386833846
|
|
NM_004260.4(RECQL4):c.1887_1890del (p.Glu630fs)
|
rs386833847
|
|
NM_004260.4(RECQL4):c.2091T>G (p.Phe697Leu)
|
rs386833850
|
|
NM_004260.4(RECQL4):c.3214A>T (p.Arg1072Ter)
|
rs386833853
|
|
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter)
|
rs137853230
|
|
NM_004260.4(RECQL4):c.3599_3600del (p.Thr1200fs)
|
rs386833854
|
|
NM_004483.5(GCSH):c.425-1G>T
|
rs386833859
|
|
NM_004646.3(NPHS1):c.1758-8_1785del
|
rs386833891
|
|
NM_004646.4(NPHS1):c.-489GA[7]
|
rs139954720
|
|
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu)
|
rs386833862
|
|
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)
|
rs386833864
|
|
NM_004646.4(NPHS1):c.1102C>T (p.Pro368Ser)
|
rs386833866
|
|
NM_004646.4(NPHS1):c.1134G>A (p.Trp378Ter)
|
rs386833869
|
|
NM_004646.4(NPHS1):c.1135C>T (p.Arg379Trp)
|
rs386833871
|
|
NM_004646.4(NPHS1):c.1135_1136del (p.Arg379fs)
|
rs386833870
|
|
NM_004646.4(NPHS1):c.1138C>T (p.Gln380Ter)
|
rs386833872
|
|
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)
|
rs142008044
|
|
NM_004646.4(NPHS1):c.1250G>T (p.Cys417Phe)
|
rs386833875
|
|
NM_004646.4(NPHS1):c.1275del (p.Lys426fs)
|
rs386833876
|
|
NM_004646.4(NPHS1):c.1292dup (p.Ser432fs)
|
rs386833877
|
|
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)
|
rs386833878
|
|
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)
|
rs386833879
|
|
NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr)
|
rs386833881
|
|
NM_004646.4(NPHS1):c.139del (p.Ala47fs)
|
rs386833882
|
|
NM_004646.4(NPHS1):c.1583G>T (p.Cys528Phe)
|
rs386833885
|
|
NM_004646.4(NPHS1):c.1672C>T (p.Arg558Cys)
|
rs386833886
|
|
NM_004646.4(NPHS1):c.1707C>G (p.Ser569Arg)
|
rs386833888
|
|
NM_004646.4(NPHS1):c.1724C>A (p.Pro575Gln)
|
rs386833890
|
|
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)
|
rs386833892
|
|
NM_004646.4(NPHS1):c.1801G>C (p.Gly601Arg)
|
rs386833893
|
|
NM_004646.4(NPHS1):c.1829T>A (p.Leu610Gln)
|
rs386833894
|
|
NM_004646.4(NPHS1):c.1905C>T (p.Ser635=)
|
rs386833896
|
|
NM_004646.4(NPHS1):c.1928T>C (p.Leu643Pro)
|
rs386833898
|
|
NM_004646.4(NPHS1):c.2019C>A (p.Asn673Lys)
|
rs191807913
|
|
NM_004646.4(NPHS1):c.2071+2T>C
|
rs386833901
|
|
NM_004646.4(NPHS1):c.2072-6C>G
|
rs200253809
|
|
NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly)
|
rs386833902
|
|
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)
|
rs386833903
|
|
NM_004646.4(NPHS1):c.2160dup (p.Cys721fs)
|
rs386833904
|
|
NM_004646.4(NPHS1):c.2171C>G (p.Ser724Cys)
|
rs386833905
|
|
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs)
|
rs386833906
|
|
NM_004646.4(NPHS1):c.2216C>T (p.Ala739Val)
|
rs386833907
|
|
NM_004646.4(NPHS1):c.2225T>C (p.Ile742Thr)
|
rs386833908
|
|
NM_004646.4(NPHS1):c.2227del (p.Arg743fs)
|
rs386833910
|
|
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)
|
rs386833911
|
|
NM_004646.4(NPHS1):c.2405G>C (p.Arg802Pro)
|
rs114203578
|
|
NM_004646.4(NPHS1):c.2442C>G (p.Tyr814Ter)
|
rs386833913
|
|
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter)
|
rs386833914
|
|
NM_004646.4(NPHS1):c.2495T>C (p.Leu832Pro)
|
rs386833916
|
|
NM_004646.4(NPHS1):c.2515del (p.Gln839fs)
|
rs386833918
|
|
NM_004646.4(NPHS1):c.2549_2558del (p.Ala850fs)
|
rs386833919
|
|
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)
|
rs386833921
|
|
NM_004646.4(NPHS1):c.2618_2620delinsCC (p.Phe873fs)
|
rs386833922
|
|
NM_004646.4(NPHS1):c.2625G>A (p.Trp875Ter)
|
rs386833923
|
|
NM_004646.4(NPHS1):c.2664-4_2670del
|
rs386833924
|
|
NM_004646.4(NPHS1):c.2770_2776del (p.Asn924fs)
|
rs386833925
|
|
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)
|
rs386833926
|
|
NM_004646.4(NPHS1):c.2815+5G>A
|
rs386833927
|
|
NM_004646.4(NPHS1):c.2816-4_2822del
|
rs386833928
|
|
NM_004646.4(NPHS1):c.286C>G (p.Leu96Val)
|
rs386833929
|
|
NM_004646.4(NPHS1):c.2927+1G>A
|
rs386833930
|
|
NM_004646.4(NPHS1):c.2944dup (p.Thr982fs)
|
rs386833931
|
|
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.3356_3357dup (p.Thr1120fs)
|
rs386833937
|
|
NM_004646.4(NPHS1):c.3388-2A>G
|
rs386833938
|
|
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys)
|
rs143092783
|
|
NM_004646.4(NPHS1):c.3482G>T (p.Gly1161Val)
|
rs386833939
|
|
NM_004646.4(NPHS1):c.3595-2A>G
|
rs386833940
|
|
NM_004646.4(NPHS1):c.3720_*9del (p.Val1241fs)
|
rs386833941
|
|
NM_004646.4(NPHS1):c.398-1G>A
|
rs386833942
|
|
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter)
|
rs386833943
|
|
NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser)
|
rs386833944
|
|
NM_004646.4(NPHS1):c.500C>T (p.Pro167Leu)
|
rs386833945
|
|
NM_004646.4(NPHS1):c.512T>A (p.Ile171Asn)
|
rs386833946
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004646.4(NPHS1):c.516del (p.Ile173fs)
|
rs386833948
|
|
NM_004646.4(NPHS1):c.518T>A (p.Ile173Asn)
|
rs386833949
|
|
NM_004646.4(NPHS1):c.526+5G>C
|
rs386833950
|
|
NM_004646.4(NPHS1):c.58+1G>T
|
rs386833954
|
|
NM_004646.4(NPHS1):c.609-2A>C
|
rs386833955
|
|
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle)
|
rs1555763603
|
|
NM_004646.4(NPHS1):c.661_662del (p.Ser221fs)
|
rs386833957
|
|
NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter)
|
rs386833959
|
|
NM_004646.4(NPHS1):c.886G>A (p.Ala296Thr)
|
rs386833962
|
|
NM_006493.4(CLN5):c.144dup (p.Ser49fs)
|
rs386833970
|
|
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)
|
rs104894386
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.380_381insA (p.Gly128fs)
|
rs386833973
|
|
NM_006493.4(CLN5):c.418C>T (p.Gln140Ter)
|
rs386833974
|
|
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)
|
rs386833975
|
|
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro)
|
rs386833976
|
|
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)
|
rs386833977
|
|
NM_006493.4(CLN5):c.473G>C (p.Trp158Ser)
|
rs386833978
|
|
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)
|
rs386833981
|
|
NM_006493.4(CLN5):c.772del (p.Arg258fs)
|
rs386833982
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter)
|
rs386833963
|
|
NM_006493.4(CLN5):c.924_925del (p.Leu309fs)
|
rs386833964
|
|
NM_006493.4(CLN5):c.925_926del (p.Leu309fs)
|
rs386833965
|
|
NM_006493.4(CLN5):c.936del (p.Phe312fs)
|
rs386833966
|
|
NM_006493.4(CLN5):c.956_959del (p.Lys319fs)
|
rs386833967
|
|
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)
|
rs386833968
|
|
NM_007035.4(KERA):c.1026del (p.Cys343fs)
|
rs386833984
|
|
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu)
|
rs386833989
|
|
NM_012434.5(SLC17A5):c.309G>A (p.Trp103Ter)
|
rs386833991
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu)
|
rs386833996
|
|
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro)
|
rs386833997
|
|
NM_015272.5(RPGRIP1L):c.723_726del (p.Asn241fs)
|
rs386833998
|
|
NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs)
|
rs386833999
|
|
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs)
|
rs386834000
|
|
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs)
|
rs386834002
|
|
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter)
|
rs386834003
|
|
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)
|
rs386834005
|
|
NM_015294.6(TRIM37):c.810-1G>A
|
rs386834006
|
|
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs)
|
rs386834007
|
|
NM_015294.6(TRIM37):c.965G>T (p.Gly322Val)
|
rs386834009
|
|
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)
|
rs386834011
|
|
NM_017739.4(POMGNT1):c.1285-2A>G
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1319T>G (p.Leu440Arg)
|
rs386834013
|
|
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs)
|
rs386834015
|
|
NM_017739.4(POMGNT1):c.1540-2A>G
|
rs386834016
|
|
NM_017739.4(POMGNT1):c.1719del (p.His573fs)
|
rs386834017
|
|
NM_017739.4(POMGNT1):c.1785+2T>G
|
rs386834020
|
|
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1864del (p.Phe621_Leu622insTer)
|
rs386834021
|
|
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)
|
rs386834022
|
|
NM_017739.4(POMGNT1):c.1895+1G>A
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.1895+5_1895+8del
|
rs386834023
|
|
NM_017739.4(POMGNT1):c.1896-1G>C
|
rs386834025
|
|
NM_017739.4(POMGNT1):c.1928del (p.Phe643fs)
|
rs386834026
|
|
NM_017739.4(POMGNT1):c.25dup (p.Leu9fs)
|
rs386834027
|
|
NM_017739.4(POMGNT1):c.351del (p.Thr118fs)
|
rs386834028
|
|
NM_017739.4(POMGNT1):c.447del (p.Phe149fs)
|
rs386834029
|
|
NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro)
|
rs386834030
|
|
NM_017739.4(POMGNT1):c.593del (p.Ser198fs)
|
rs386834031
|
|
NM_017739.4(POMGNT1):c.594C>G (p.Ser198Arg)
|
rs386834032
|
|
NM_017739.4(POMGNT1):c.630G>T (p.Trp210Cys)
|
rs386834033
|
|
NM_017739.4(POMGNT1):c.652+1G>A
|
rs386834035
|
|
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)
|
rs386834036
|
|
NM_017739.4(POMGNT1):c.806G>A (p.Cys269Tyr)
|
rs386834037
|
|
NM_017739.4(POMGNT1):c.879+5G>A
|
rs386834038
|
|
NM_017739.4(POMGNT1):c.879+5G>T
|
rs386834038
|
|
NM_017739.4(POMGNT1):c.982dup (p.Val328fs)
|
rs386834040
|
|
NM_017777.4(MKS1):c.1048C>G (p.Gln350Glu)
|
rs386834041
|
|
NM_017777.4(MKS1):c.1048C>T (p.Gln350Ter)
|
rs386834041
|
|
NM_017777.4(MKS1):c.1407+2del
|
rs386834042
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1490G>A (p.Arg497Lys)
|
rs386834045
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer)
|
rs386834047
|
|
NM_017777.4(MKS1):c.424C>T (p.Gln142Ter)
|
rs386834049
|
|
NM_017777.4(MKS1):c.80+2T>C
|
rs386834052
|
|
NM_018941.4(CLN8):c.181_183del (p.Lys61del)
|
rs386834123
|
|
NM_018941.4(CLN8):c.227A>G (p.Gln76Arg)
|
rs386834125
|
|
NM_018941.4(CLN8):c.320T>G (p.Ile107Ser)
|
rs386834126
|
|
NM_018941.4(CLN8):c.415C>T (p.His139Tyr)
|
rs386834127
|
|
NM_018941.4(CLN8):c.464C>T (p.Ala155Val)
|
rs386834128
|
|
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
|
rs386834129
|
|
NM_018941.4(CLN8):c.507C>T (p.Ser169=)
|
rs386834131
|
|
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)
|
rs386834132
|
|
NM_018941.4(CLN8):c.581A>G (p.Gln194Arg)
|
rs386834133
|
|
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)
|
rs386834134
|
|
NM_018941.4(CLN8):c.634TGG[1] (p.Trp213del)
|
rs386834135
|
|
NM_018941.4(CLN8):c.66del (p.Ile23fs)
|
rs34238807
|
|
NM_018941.4(CLN8):c.766C>G (p.Gln256Glu)
|
rs386834138
|
|
NM_018941.4(CLN8):c.88del (p.Ala30fs)
|
rs386834139
|
|
NM_018965.4(TREM2):c.269del (p.Gly90fs)
|
rs386834140
|
|
NM_018965.4(TREM2):c.40+4_40+6del
|
rs386834142
|
|
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter)
|
rs386834143
|
|
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val)
|
rs386834145
|
|
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser)
|
rs386834147
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_025114.4(CEP290):c.1451del (p.Lys484fs)
|
rs386834149
|
|
NM_025114.4(CEP290):c.180+2T>A
|
rs386834150
|
|
NM_025114.4(CEP290):c.1860_1861del (p.Asp622fs)
|
rs386834151
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3446_3447del (p.Lys1149fs)
|
rs386834155
|
|
NM_025114.4(CEP290):c.381_382delinsT (p.Lys127fs)
|
rs386834156
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
NM_030943.4(AMN):c.1006+16_1006+30del
|
rs386834160
|
|
NM_030943.4(AMN):c.1006+34_1007-31del
|
rs386834161
|
|
NM_030943.4(AMN):c.1006+36_1007-29del
|
rs386834162
|
|
NM_030943.4(AMN):c.1014_1021del (p.Leu339fs)
|
rs386834163
|
|
NM_030943.4(AMN):c.1253dup (p.Leu419fs)
|
rs386834165
|
|
NM_030943.4(AMN):c.1314_1315del (p.His438fs)
|
rs386834167
|
|
NM_030943.4(AMN):c.14del (p.Gly5fs)
|
rs386834168
|
|
NM_030943.4(AMN):c.208-1G>C
|
rs386834169
|
|
NM_030943.4(AMN):c.295+1del
|
rs386834171
|
|
NM_030943.4(AMN):c.43+1G>T
|
rs386834172
|
|
NM_030943.4(AMN):c.468dup (p.Gly157fs)
|
rs386834173
|
|
NM_030943.4(AMN):c.514-34G>A
|
rs144077391
|
|
NM_030943.4(AMN):c.663G>A (p.Trp221Ter)
|
rs386834174
|
|
NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del)
|
rs386834175
|
|
NM_030943.4(AMN):c.701G>T (p.Cys234Phe)
|
rs386834176
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|
NM_030943.4(AMN):c.761G>A (p.Gly254Glu)
|
rs386834178
|
|
NM_030943.4(AMN):c.974_977dup (p.Ala327fs)
|
rs386834179
|
|
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs)
|
rs386834054
|
|
NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs)
|
rs386834056
|
|
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter)
|
rs386834057
|
|
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs)
|
rs386834058
|
|
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter)
|
rs386834060
|
|
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs)
|
rs386834062
|
|
NM_152564.5(VPS13B):c.11481dup (p.Val3828fs)
|
rs386834063
|
|
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs)
|
rs386834064
|
|
NM_152564.5(VPS13B):c.11523del (p.Glu3842fs)
|
rs386834065
|
|
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)
|
rs386834066
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs)
|
rs386834069
|
|
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs)
|
rs180177374
|
|
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)
|
rs386834070
|
|
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter)
|
rs386834071
|
|
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs)
|
rs386834072
|
|
NM_152564.5(VPS13B):c.1844-2A>G
|
rs386834073
|
|
NM_152564.5(VPS13B):c.2047del (p.Gln683fs)
|
rs386834074
|
|
NM_152564.5(VPS13B):c.219_220delinsT (p.Lys73fs)
|
rs386834075
|
|
NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs)
|
rs386834076
|
|
NM_152564.5(VPS13B):c.2651-1G>A
|
rs386834077
|
|
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs)
|
rs180177357
|
|
NM_152564.5(VPS13B):c.292-2A>G
|
rs386834079
|
|
NM_152564.5(VPS13B):c.2934+1_2934+2del
|
rs180177358
|
|
NM_152564.5(VPS13B):c.3618T>A (p.Cys1206Ter)
|
rs386834081
|
|
NM_152564.5(VPS13B):c.3666+2T>C
|
rs386834082
|
|
NM_152564.5(VPS13B):c.404dup (p.Leu135fs)
|
rs386834083
|
|
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs)
|
rs386834084
|
|
NM_152564.5(VPS13B):c.4321dup (p.Thr1441fs)
|
rs386834085
|
|
NM_152564.5(VPS13B):c.4399del (p.Ile1467fs)
|
rs386834087
|
|
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del)
|
rs386834088
|
|
NM_152564.5(VPS13B):c.4497dup (p.Glu1500fs)
|
rs386834089
|
|
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs)
|
rs386834090
|
|
NM_152564.5(VPS13B):c.4745+2T>C
|
rs386834091
|
|
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter)
|
rs180177359
|
|
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del)
|
rs180177362
|
|
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter)
|
rs386834094
|
|
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)
|
rs180177363
|
|
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs)
|
rs180177364
|
|
NM_152564.5(VPS13B):c.5538_5539insT (p.Lys1847Ter)
|
rs1554884838
|
|
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs)
|
rs386834096
|
|
NM_152564.5(VPS13B):c.5675del (p.Ser1892fs)
|
rs386834097
|
|
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)
|
rs386834098
|
|
NM_152564.5(VPS13B):c.626_627del (p.Thr209fs)
|
rs386834100
|
|
NM_152564.5(VPS13B):c.6345_6346del (p.Gln2115fs)
|
rs386834101
|
|
NM_152564.5(VPS13B):c.6612del (p.Gln2204fs)
|
rs386834102
|
|
NM_152564.5(VPS13B):c.6658-2A>G
|
rs386834103
|
|
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs)
|
rs386834105
|
|
NM_152564.5(VPS13B):c.7535G>A (p.Trp2512Ter)
|
rs386834108
|
|
NM_152564.5(VPS13B):c.7861del (p.Gln2621fs)
|
rs386834109
|
|
NM_152564.5(VPS13B):c.8266del (p.Glu2755_Leu2756insTer)
|
rs386834111
|
|
NM_152564.5(VPS13B):c.8536del (p.Thr2846fs)
|
rs386834114
|
|
NM_152564.5(VPS13B):c.8622-2A>G
|
rs386834115
|
|
NM_152564.5(VPS13B):c.8622-9A>G
|
rs386834116
|
|
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs)
|
rs386834117
|
|
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
|
rs180177329
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9615-2A>G
|
rs386834120
|
|
NM_152564.5(VPS13B):c.9631del (p.Tyr3211fs)
|
rs386834121
|
|
NM_152564.5(VPS13B):c.9656del (p.Tyr3219fs)
|
rs386834122
|
|
NM_153704.6(TMEM67):c.1065+1del
|
rs386834181
|
|
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu)
|
rs386834183
|
|
NM_153704.6(TMEM67):c.1336G>C (p.Asp446His)
|
rs386834184
|
|
NM_153704.6(TMEM67):c.1413-1G>C
|
rs386834185
|
|
NM_153704.6(TMEM67):c.1538_1539del (p.Thr512_Tyr513insTer)
|
rs386834186
|
|
NM_153704.6(TMEM67):c.1575+1G>A
|
rs386834187
|
|
NM_153704.6(TMEM67):c.2002T>C (p.Trp668Arg)
|
rs386834189
|
|
NM_153704.6(TMEM67):c.2301del (p.Asp768fs)
|
rs386834191
|
|
NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu)
|
rs386834193
|
|
NM_153704.6(TMEM67):c.2542G>T (p.Glu848Ter)
|
rs386834195
|
|
NM_153704.6(TMEM67):c.2557A>T (p.Lys853Ter)
|
rs386834196
|
|
NM_153704.6(TMEM67):c.2561dup (p.Asn854fs)
|
rs386834197
|
|
NM_153704.6(TMEM67):c.2689_2690insTA (p.Lys897fs)
|
rs386834198
|
|
NM_153704.6(TMEM67):c.2897T>C (p.Leu966Pro)
|
rs386834199
|
|
NM_153704.6(TMEM67):c.383_384del (p.His128fs)
|
rs386834200
|
|
NM_153704.6(TMEM67):c.579del (p.Gly195fs)
|
rs386834203
|
|
NM_153704.6(TMEM67):c.648del (p.Val217fs)
|
rs386834204
|
|
NM_153704.6(TMEM67):c.734C>T (p.Ser245Phe)
|
rs386834206
|
|
NM_153704.6(TMEM67):c.870-2A>G
|
rs386834207
|
|