NM_001127898.4(CLCN5):c.316-17T>G
|
rs56117808
|
0.00404
|
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln)
|
rs112638391
|
0.00306
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_001378328.1(CELSR1):c.1210G>A (p.Glu404Lys)
|
rs201107590
|
0.00031
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_032237.5(POMK):c.136C>T (p.Arg46Ter)
|
rs202036744
|
0.00017
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)
|
rs774521989
|
0.00005
|
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr)
|
rs746638187
|
0.00005
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)
|
rs267606960
|
0.00004
|
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)
|
rs193919336
|
0.00004
|
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg)
|
rs761631813
|
0.00004
|
NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser)
|
rs931374138
|
0.00003
|
NM_001849.4(COL6A2):c.1461del (p.Ser488fs)
|
rs398123645
|
0.00003
|
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys)
|
rs755588045
|
0.00003
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
NM_020451.3(SELENON):c.1010+1G>A
|
rs908682527
|
0.00003
|
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys)
|
rs368074297
|
0.00003
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)
|
rs766382416
|
0.00002
|
NM_017739.4(POMGNT1):c.1649+1G>A
|
rs752700398
|
0.00002
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)
|
rs377215510
|
0.00002
|
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu)
|
rs368377980
|
0.00002
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)
|
rs771941724
|
0.00001
|
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)
|
rs762972459
|
0.00001
|
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)
|
rs150877512
|
0.00001
|
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)
|
rs386834014
|
0.00001
|
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)
|
rs745343484
|
0.00001
|
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln)
|
rs573518562
|
0.00001
|
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)
|
rs760705290
|
0.00001
|
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)
|
rs386834018
|
0.00001
|
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
|
rs375431575
|
0.00001
|
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln)
|
rs770188918
|
0.00001
|
NM_017739.4(POMGNT1):c.637G>A (p.Val213Met)
|
rs1239939744
|
0.00001
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter)
|
rs794727976
|
0.00001
|
NM_020451.3(SELENON):c.1209dup (p.Lys404fs)
|
rs745715484
|
0.00001
|
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser)
|
rs121908186
|
0.00001
|
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter)
|
rs760063405
|
0.00001
|
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp)
|
rs752156505
|
0.00001
|
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp)
|
rs756927098
|
0.00001
|
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter)
|
rs960468382
|
0.00001
|
NM_020451.3(SELENON):c.1501-1G>A
|
rs750138587
|
0.00001
|
NM_020451.3(SELENON):c.1735G>A (p.Glu579Lys)
|
rs765368764
|
0.00001
|
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)
|
rs778603129
|
0.00001
|
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)
|
rs775713184
|
0.00001
|
NM_020451.3(SELENON):c.871C>T (p.Arg291Trp)
|
rs757446463
|
0.00001
|
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)
|
rs199564797
|
0.00001
|
NM_020451.3(SELENON):c.878A>G (p.His293Arg)
|
rs776738184
|
0.00001
|
NM_020451.3(SELENON):c.976G>A (p.Val326Ile)
|
rs764032922
|
0.00001
|
GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
|
|
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
NM_000426.4(LAMA2):c.3412-2A>C
|
rs1562449164
|
|
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)
|
rs56173620
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs)
|
rs587777819
|
|
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys)
|
rs1472549168
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001848.3(COL6A1):c.904-39A>G
|
rs1569518138
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
NM_001849.4(COL6A2):c.736-6T>C
|
|
|
NM_001849.4(COL6A2):c.855+1G>T
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.955-3C>G
|
rs1208931749
|
|
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)
|
rs760446904
|
|
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
|
|
|
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp)
|
rs771424958
|
|
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs)
|
rs2106319784
|
|
NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu)
|
rs1766404539
|
|
NM_004370.6(COL12A1):c.8319+5G>A
|
|
|
NM_013382.7(POMT2):c.1248C>G (p.His416Gln)
|
rs1566649375
|
|
NM_013382.7(POMT2):c.1726-1dup
|
rs1229291913
|
|
NM_013382.7(POMT2):c.333+1G>T
|
|
|
NM_016213.5(TRIP4):c.1065del (p.Ile356fs)
|
rs1891833492
|
|
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)
|
rs751254522
|
|
NM_017739.4(POMGNT1):c.1027-2_1027-1del
|
rs1057516536
|
|
NM_017739.4(POMGNT1):c.1152+1G>A
|
rs1474858292
|
|
NM_017739.4(POMGNT1):c.1212-3_1212-2del
|
rs1064797111
|
|
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)
|
rs386834011
|
|
NM_017739.4(POMGNT1):c.1284+2_1284+19del
|
rs1057516409
|
|
NM_017739.4(POMGNT1):c.1285-2A>G
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1413+1G>C
|
rs587777821
|
|
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)
|
rs727504103
|
|
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs)
|
rs1434252108
|
|
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs)
|
rs1176001640
|
|
NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs)
|
rs749332339
|
|
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1895+1G>A
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.263del (p.Pro88fs)
|
rs1557677980
|
|
NM_017739.4(POMGNT1):c.303_304insT (p.Glu102Ter)
|
|
|
NM_017739.4(POMGNT1):c.351del (p.Thr118fs)
|
rs386834028
|
|
NM_017739.4(POMGNT1):c.478del (p.Met160fs)
|
rs1057517355
|
|
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)
|
rs1424631447
|
|
NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro)
|
rs386834030
|
|
NM_017739.4(POMGNT1):c.563_564del (p.Thr188fs)
|
rs757322014
|
|
NM_017739.4(POMGNT1):c.56G>A (p.Arg19Gln)
|
|
|
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter)
|
rs1156647434
|
|
NM_017739.4(POMGNT1):c.652+1G>A
|
rs386834035
|
|
NM_017739.4(POMGNT1):c.653-2del
|
|
|
NM_017739.4(POMGNT1):c.752-2A>G
|
rs1236287516
|
|
NM_017739.4(POMGNT1):c.878del (p.Pro293fs)
|
rs752389406
|
|
NM_017739.4(POMGNT1):c.879+5G>T
|
rs386834038
|
|
NM_017739.4(POMGNT1):c.880-1G>C
|
rs1317832573
|
|
NM_017739.4(POMGNT1):c.982dup (p.Val328fs)
|
rs386834040
|
|
NM_020451.3(SELENON):c.1011-1G>C
|
rs1333001112
|
|
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)
|
rs745886248
|
|
NM_020451.3(SELENON):c.1176del (p.Glu394fs)
|
|
|
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter)
|
rs747284477
|
|
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe)
|
rs767530943
|
|
NM_020451.3(SELENON):c.1388-1G>C
|
|
|
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)
|
rs797044621
|
|
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)
|
rs779162837
|
|
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs)
|
rs1553198611
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
NM_020451.3(SELENON):c.473T>C (p.Ile158Thr)
|
|
|
NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)
|
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
NM_020451.3(SELENON):c.820G>C (p.Ala274Pro)
|
|
|
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)
|
rs797045950
|
|
NM_020451.3(SELENON):c.863_864del (p.Val288fs)
|
rs1184282261
|
|
NM_020451.3(SELENON):c.872+2T>C
|
rs794727808
|
|
NM_020451.3(SELENON):c.873-2A>G
|
rs1176143542
|
|
NM_020451.3(SELENON):c.877C>T (p.His293Tyr)
|
|
|
NM_020451.3(SELENON):c.997_1000del (p.Val333fs)
|
rs886041686
|
|
NM_032237.5(POMK):c.965C>T (p.Pro322Leu)
|
rs747083630
|
|
NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val)
|
rs1558417340
|
|
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)
|
rs1553261891
|
|
NM_173660.5(DOK7):c.533-2A>G
|
|
|