NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)
|
rs146097254
|
0.00280
|
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)
|
rs17102066
|
0.00264
|
NM_002206.3(ITGA7):c.2958+16G>A
|
rs200586885
|
0.00207
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=)
|
rs899353
|
0.00120
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
NM_001077365.2(POMT1):c.1486+14G>A
|
rs142995404
|
0.00118
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg)
|
rs138162760
|
0.00071
|
NM_032237.5(POMK):c.565A>G (p.Ile189Val)
|
rs149297443
|
0.00057
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)
|
rs150378645
|
0.00038
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe)
|
rs185213208
|
0.00032
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys)
|
rs777626370
|
0.00029
|
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn)
|
rs749423866
|
0.00026
|
NM_002206.3(ITGA7):c.799A>G (p.Ile267Val)
|
rs201469044
|
0.00025
|
NM_032806.6(POMGNT2):c.77G>A (p.Arg26His)
|
rs143667339
|
0.00023
|
NM_002206.3(ITGA7):c.3287C>T (p.Thr1096Met)
|
rs200485048
|
0.00019
|
NM_032237.5(POMK):c.44G>A (p.Arg15Gln)
|
rs377725187
|
0.00019
|
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)
|
rs145527336
|
0.00016
|
NM_002206.3(ITGA7):c.1589C>T (p.Ala530Val)
|
rs200267194
|
0.00011
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)
|
rs756854513
|
0.00010
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe)
|
rs200690151
|
0.00009
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)
|
rs200056620
|
0.00008
|
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)
|
rs139660235
|
0.00008
|
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly)
|
rs370397489
|
0.00008
|
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp)
|
rs778440478
|
0.00008
|
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)
|
rs1374568851
|
0.00006
|
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)
|
rs794727594
|
0.00006
|
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)
|
rs757903559
|
0.00006
|
NM_001077365.2(POMT1):c.579_580del (p.Val195fs)
|
rs1032439203
|
0.00006
|
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)
|
rs747506380
|
0.00006
|
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)
|
rs373091820
|
0.00006
|
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)
|
rs371741722
|
0.00006
|
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter)
|
rs777172978
|
0.00006
|
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu)
|
rs149747266
|
0.00006
|
NM_000426.4(LAMA2):c.5562+1G>A
|
rs376014152
|
0.00005
|
NM_016532.4(INPP5K):c.119A>G (p.Asn40Ser)
|
rs547379014
|
0.00005
|
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)
|
rs199922550
|
0.00005
|
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr)
|
rs759117081
|
0.00005
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)
|
rs398123388
|
0.00004
|
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)
|
rs794727208
|
0.00004
|
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp)
|
rs727502829
|
0.00004
|
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His)
|
rs575412915
|
0.00004
|
NM_004393.6(DAG1):c.2039G>A (p.Arg680Gln)
|
rs376931365
|
0.00004
|
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_024301.5(FKRP):c.328C>T (p.Arg110Trp)
|
rs758759348
|
0.00004
|
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)
|
rs543163491
|
0.00004
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
NM_133642.5(LARGE1):c.221A>C (p.Glu74Ala)
|
rs751789128
|
0.00004
|
NM_000426.4(LAMA2):c.2451-2A>G
|
rs993196576
|
0.00003
|
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)
|
rs145420388
|
0.00003
|
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)
|
rs398123373
|
0.00003
|
NM_000426.4(LAMA2):c.4960-17C>A
|
rs758048596
|
0.00003
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)
|
rs1209130981
|
0.00003
|
NM_001077365.2(POMT1):c.2004-1G>C
|
rs745738628
|
0.00003
|
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)
|
rs375318905
|
0.00003
|
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr)
|
rs202175607
|
0.00003
|
NM_013382.7(POMT2):c.1006+1G>A
|
rs533916138
|
0.00003
|
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)
|
rs267606971
|
0.00003
|
NM_016213.5(TRIP4):c.1465C>T (p.Arg489Cys)
|
rs764341782
|
0.00003
|
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)
|
rs936866997
|
0.00003
|
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)
|
rs770987150
|
0.00003
|
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)
|
rs143626559
|
0.00002
|
NM_000426.4(LAMA2):c.250C>T (p.Arg84Ter)
|
rs868019991
|
0.00002
|
NM_000426.4(LAMA2):c.283+1G>A
|
rs200288072
|
0.00002
|
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs)
|
rs886041297
|
0.00002
|
NM_000426.4(LAMA2):c.4176+1G>A
|
rs1404492484
|
0.00002
|
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)
|
rs369776766
|
0.00002
|
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)
|
rs758775001
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile)
|
rs199814707
|
0.00002
|
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)
|
rs749566145
|
0.00002
|
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)
|
rs1293303410
|
0.00002
|
NM_001077365.2(POMT1):c.1196del (p.Leu399fs)
|
rs768144522
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001077365.2(POMT1):c.1698+1G>A
|
rs763586263
|
0.00002
|
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)
|
rs119462983
|
0.00002
|
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)
|
rs746696167
|
0.00002
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp)
|
rs762263982
|
0.00002
|
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys)
|
rs767343975
|
0.00002
|
NM_013382.7(POMT2):c.1006+5G>A
|
rs587780422
|
0.00002
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg)
|
rs761773211
|
0.00002
|
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)
|
rs587780423
|
0.00002
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
NM_017739.4(POMGNT1):c.753G>T (p.Glu251Asp)
|
rs751316371
|
0.00002
|
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)
|
rs200863680
|
0.00002
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)
|
rs1247934219
|
0.00002
|
NM_000426.4(LAMA2):c.112+1G>A
|
rs398123367
|
0.00001
|
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)
|
rs773209126
|
0.00001
|
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
|
rs202247791
|
0.00001
|
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)
|
rs920771326
|
0.00001
|
NM_000426.4(LAMA2):c.2323-1G>T
|
rs1278823424
|
0.00001
|
NM_000426.4(LAMA2):c.2749+2dup
|
rs759144210
|
0.00001
|
NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter)
|
rs375638381
|
0.00001
|
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)
|
rs121913577
|
0.00001
|
NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter)
|
rs752094219
|
0.00001
|
NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser)
|
rs747246881
|
0.00001
|
NM_000426.4(LAMA2):c.3556-13T>A
|
rs775278003
|
0.00001
|
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)
|
rs535635043
|
0.00001
|
NM_000426.4(LAMA2):c.396+1G>T
|
rs770617208
|
0.00001
|
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs)
|
rs1433071073
|
0.00001
|
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)
|
rs200923373
|
0.00001
|
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter)
|
rs121913575
|
0.00001
|
NM_000426.4(LAMA2):c.4699G>A (p.Glu1567Lys)
|
rs371388948
|
0.00001
|
NM_000426.4(LAMA2):c.5234+1G>A
|
rs781376927
|
0.00001
|
NM_000426.4(LAMA2):c.5285G>A (p.Arg1762Gln)
|
rs138296015
|
0.00001
|
NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter)
|
rs1276300668
|
0.00001
|
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs)
|
rs398123377
|
0.00001
|
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)
|
rs398123378
|
0.00001
|
NM_000426.4(LAMA2):c.5938G>A (p.Glu1980Lys)
|
rs769574222
|
0.00001
|
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)
|
rs398123383
|
0.00001
|
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)
|
rs762806915
|
0.00001
|
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter)
|
rs776104105
|
0.00001
|
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro)
|
rs121913570
|
0.00001
|
NM_000426.4(LAMA2):c.8244+1G>A
|
rs749522728
|
0.00001
|
NM_000426.4(LAMA2):c.8398G>A (p.Gly2800Ser)
|
rs758491978
|
0.00001
|
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)
|
rs756973046
|
0.00001
|
NM_001077365.2(POMT1):c.1175+1G>A
|
rs1051679985
|
0.00001
|
NM_001077365.2(POMT1):c.1176-2A>G
|
rs746523421
|
0.00001
|
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)
|
rs1564364615
|
0.00001
|
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)
|
rs745509085
|
0.00001
|
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)
|
rs1397478363
|
0.00001
|
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)
|
rs746849558
|
0.00001
|
NM_001077365.2(POMT1):c.1528G>A (p.Ala510Thr)
|
rs1276417965
|
0.00001
|
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)
|
rs761848742
|
0.00001
|
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)
|
rs119462987
|
0.00001
|
NM_001077365.2(POMT1):c.280+1G>T
|
rs746823238
|
0.00001
|
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys)
|
rs1289335417
|
0.00001
|
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
|
rs119462982
|
0.00001
|
NM_001077365.2(POMT1):c.699+62del
|
rs1356791510
|
0.00001
|
NM_001077365.2(POMT1):c.699+67G>A
|
rs776061161
|
0.00001
|
NM_001077365.2(POMT1):c.699+68T>C
|
rs759254028
|
0.00001
|
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)
|
rs119462981
|
0.00001
|
NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter)
|
rs759848847
|
0.00001
|
NM_001077365.2(POMT1):c.986+1G>A
|
rs961071228
|
0.00001
|
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)
|
rs186882839
|
0.00001
|
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)
|
rs755589190
|
0.00001
|
NM_001848.3(COL6A1):c.3052C>T (p.His1018Tyr)
|
rs2077865867
|
0.00001
|
NM_001848.3(COL6A1):c.79A>T (p.Arg27Trp)
|
rs1031520613
|
0.00001
|
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser)
|
rs768542626
|
0.00001
|
NM_002206.3(ITGA7):c.998+18C>T
|
rs370001763
|
0.00001
|
NM_003863.4(DPM2):c.127T>C (p.Tyr43His)
|
rs1275174624
|
0.00001
|
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu)
|
rs779425587
|
0.00001
|
NM_004370.6(COL12A1):c.5888A>G (p.Gln1963Arg)
|
rs1766321428
|
0.00001
|
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp)
|
rs1366474005
|
0.00001
|
NM_005198.5(CHKB):c.1031+3G>C
|
rs751176079
|
0.00001
|
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)
|
rs267606970
|
0.00001
|
NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter)
|
rs773017813
|
0.00001
|
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)
|
rs190285831
|
0.00001
|
NM_013382.7(POMT2):c.1433A>G (p.His478Arg)
|
rs765346043
|
0.00001
|
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter)
|
rs766169193
|
0.00001
|
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)
|
rs119463989
|
0.00001
|
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp)
|
rs372939905
|
0.00001
|
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln)
|
rs770606360
|
0.00001
|
NM_013382.7(POMT2):c.248+1G>C
|
rs961440747
|
0.00001
|
NM_013382.7(POMT2):c.248+2T>C
|
rs1326631351
|
0.00001
|
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)
|
rs199719668
|
0.00001
|
NM_013403.3(STRN4):c.282+55T>C
|
rs2054592600
|
0.00001
|
NM_017739.4(POMGNT1):c.1110+1G>A
|
rs1657940058
|
0.00001
|
NM_017739.4(POMGNT1):c.1152+2T>C
|
rs1553163335
|
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.1513G>A (p.Gly505Ser)
|
rs760705290
|
0.00001
|
NM_017739.4(POMGNT1):c.1605-1G>C
|
rs770219373
|
0.00001
|
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)
|
rs386834018
|
0.00001
|
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)
|
rs193919337
|
0.00001
|
NM_017739.4(POMGNT1):c.236-1G>T
|
rs1057516477
|
0.00001
|
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
|
rs375431575
|
0.00001
|
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)
|
rs1048865247
|
0.00001
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
NM_017739.4(POMGNT1):c.652+1G>T
|
rs386834035
|
0.00001
|
NM_017739.4(POMGNT1):c.751+1G>A
|
rs1247668825
|
0.00001
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)
|
rs772950604
|
0.00001
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)
|
rs761821795
|
0.00001
|
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)
|
rs104894692
|
0.00001
|
NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys)
|
rs762546512
|
0.00001
|
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys)
|
rs104894679
|
0.00001
|
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)
|
rs28937901
|
0.00001
|
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)
|
rs752582904
|
0.00001
|
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu)
|
rs745882222
|
0.00001
|
NM_032237.5(POMK):c.907C>T (p.Arg303Ter)
|
rs528307346
|
0.00001
|
NM_032806.6(POMGNT2):c.1555G>A (p.Glu519Lys)
|
rs747691921
|
0.00001
|
NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp)
|
rs746916767
|
0.00001
|
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)
|
rs758131044
|
0.00001
|
NM_000426.4(LAMA2):c.112+1G>T
|
|
|
NM_000426.4(LAMA2):c.1121_1129delinsTACTT (p.Gly374fs)
|
|
|
NM_000426.4(LAMA2):c.113-2A>C
|
|
|
NM_000426.4(LAMA2):c.1188dup (p.Phe397fs)
|
|
|
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
|
|
|
NM_000426.4(LAMA2):c.1306+2T>G
|
rs1326401124
|
|
NM_000426.4(LAMA2):c.1307-1G>A
|
rs1554234051
|
|
NM_000426.4(LAMA2):c.1307-2A>G
|
|
|
NM_000426.4(LAMA2):c.1454C>T (p.Pro485Leu)
|
rs146522136
|
|
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
|
|
|
NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)
|
|
|
NM_000426.4(LAMA2):c.155T>G (p.Ile52Ser)
|
rs1380745222
|
|
NM_000426.4(LAMA2):c.1638_1641del (p.Asp547fs)
|
|
|
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter)
|
rs1303773212
|
|
NM_000426.4(LAMA2):c.1682_1688del (p.Leu561fs)
|
|
|
NM_000426.4(LAMA2):c.16_49del (p.Gly6fs)
|
|
|
NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs)
|
rs1583219849
|
|
NM_000426.4(LAMA2):c.1755C>T (p.Ser585=)
|
rs1012171328
|
|
NM_000426.4(LAMA2):c.1782_1782+1delinsT
|
|
|
NM_000426.4(LAMA2):c.183del (p.Gly62fs)
|
|
|
NM_000426.4(LAMA2):c.1852G>T (p.Glu618Ter)
|
rs1786070922
|
|
NM_000426.4(LAMA2):c.1973_1991delinsTAA (p.Glu658fs)
|
|
|
NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)
|
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.2096+1G>A
|
rs1554256965
|
|
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter)
|
rs775676341
|
|
NM_000426.4(LAMA2):c.2323-2A>T
|
|
|
NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs)
|
rs1554260284
|
|
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
|
|
|
NM_000426.4(LAMA2):c.2514del (p.Tyr839fs)
|
|
|
NM_000426.4(LAMA2):c.2537+1G>C
|
|
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
NM_000426.4(LAMA2):c.2723del (p.Asp908fs)
|
|
|
NM_000426.4(LAMA2):c.2749+1G>A
|
rs759555791
|
|
NM_000426.4(LAMA2):c.2768_2771dup (p.Ser925fs)
|
|
|
NM_000426.4(LAMA2):c.2788del (p.Cys930fs)
|
|
|
NM_000426.4(LAMA2):c.2790C>A (p.Cys930Ter)
|
|
|
NM_000426.4(LAMA2):c.2803G>T (p.Gly935Ter)
|
|
|
NM_000426.4(LAMA2):c.2811_2812del (p.Cys937_Glu938delinsTer)
|
|
|
NM_000426.4(LAMA2):c.283+2T>A
|
|
|
NM_000426.4(LAMA2):c.2856+1G>C
|
|
|
NM_000426.4(LAMA2):c.2937_2938del (p.Cys979_Glu980delinsTer)
|
|
|
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)
|
rs398123371
|
|
NM_000426.4(LAMA2):c.3037+1G>T
|
rs1773291512
|
|
NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs)
|
rs2114460969
|
|
NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter)
|
rs1774316033
|
|
NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter)
|
rs2114493974
|
|
NM_000426.4(LAMA2):c.3556-1G>C
|
rs2114501078
|
|
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs)
|
rs727503992
|
|
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs)
|
rs398123372
|
|
NM_000426.4(LAMA2):c.3735+1G>A
|
|
|
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs)
|
rs750220830
|
|
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)
|
rs1180309541
|
|
NM_000426.4(LAMA2):c.3982del (p.Asp1328fs)
|
|
|
NM_000426.4(LAMA2):c.4097_4112del (p.Arg1366fs)
|
|
|
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)
|
rs775112258
|
|
NM_000426.4(LAMA2):c.4255_4258dup (p.Cys1420fs)
|
rs2114532990
|
|
NM_000426.4(LAMA2):c.4285dup (p.Cys1429fs)
|
|
|
NM_000426.4(LAMA2):c.4319_4323del (p.Gln1440fs)
|
|
|
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr)
|
rs143680577
|
|
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)
|
rs143680577
|
|
NM_000426.4(LAMA2):c.442dup (p.Arg148fs)
|
rs1775302275
|
|
NM_000426.4(LAMA2):c.4524-2A>T
|
rs1554278541
|
|
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs)
|
rs774051471
|
|
NM_000426.4(LAMA2):c.4717+5G>A
|
rs776050258
|
|
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)
|
rs1392196900
|
|
NM_000426.4(LAMA2):c.4861-2A>G
|
rs2114627220
|
|
NM_000426.4(LAMA2):c.4861del (p.His1621fs)
|
|
|
NM_000426.4(LAMA2):c.4878del (p.Gln1626fs)
|
|
|
NM_000426.4(LAMA2):c.4886dup (p.Glu1630fs)
|
|
|
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)
|
rs553221833
|
|
NM_000426.4(LAMA2):c.5181A>C (p.Glu1727Asp)
|
rs1779325827
|
|
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer)
|
rs1211739649
|
|
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs)
|
rs1415944134
|
|
NM_000426.4(LAMA2):c.5342del (p.Asn1781fs)
|
|
|
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter)
|
rs746201268
|
|
NM_000426.4(LAMA2):c.5445+1G>A
|
rs1779423047
|
|
NM_000426.4(LAMA2):c.5563-1G>A
|
|
|
NM_000426.4(LAMA2):c.6103C>T (p.Gln2035Ter)
|
|
|
NM_000426.4(LAMA2):c.6147del (p.Asp2050fs)
|
|
|
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter)
|
rs922640025
|
|
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del)
|
rs1363017615
|
|
NM_000426.4(LAMA2):c.6623G>A (p.Trp2208Ter)
|
|
|
NM_000426.4(LAMA2):c.6752C>A (p.Pro2251His)
|
rs546395293
|
|
NM_000426.4(LAMA2):c.6948G>A (p.Trp2316Ter)
|
|
|
NM_000426.4(LAMA2):c.7003del (p.Glu2335fs)
|
|
|
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
|
rs121913576
|
|
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs)
|
rs398123385
|
|
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro)
|
rs1562273395
|
|
NM_000426.4(LAMA2):c.7301-1G>A
|
|
|
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)
|
|
|
NM_000426.4(LAMA2):c.7692_7693insA (p.Leu2565fs)
|
|
|
NM_000426.4(LAMA2):c.7749+1G>C
|
|
|
NM_000426.4(LAMA2):c.7750-2A>G
|
rs778539477
|
|
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter)
|
rs766920075
|
|
NM_000426.4(LAMA2):c.7870_7871dup (p.Ser2625fs)
|
rs2114849148
|
|
NM_000426.4(LAMA2):c.7898+1G>A
|
rs1784599832
|
|
NM_000426.4(LAMA2):c.7899-1G>C
|
|
|
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs)
|
rs886039541
|
|
NM_000426.4(LAMA2):c.8075+2dup
|
rs2114859967
|
|
NM_000426.4(LAMA2):c.8076-1G>A
|
rs1554310169
|
|
NM_000426.4(LAMA2):c.8079dup (p.Met2694fs)
|
|
|
NM_000426.4(LAMA2):c.8096del (p.Pro2699fs)
|
rs1784912657
|
|
NM_000426.4(LAMA2):c.820-1G>A
|
rs1370654793
|
|
NM_000426.4(LAMA2):c.8244+2dup
|
rs1554310330
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
NM_000426.4(LAMA2):c.8245-2A>G
|
rs914395925
|
|
NM_000426.4(LAMA2):c.8256del (p.Ala2753fs)
|
|
|
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter)
|
rs1028599119
|
|
NM_000426.4(LAMA2):c.8484C>G (p.Asp2828Glu)
|
rs1785788819
|
|
NM_000426.4(LAMA2):c.8540G>A (p.Trp2847Ter)
|
|
|
NM_000426.4(LAMA2):c.8548-2A>G
|
rs369224209
|
|
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del)
|
rs398123389
|
|
NM_000426.4(LAMA2):c.861C>A (p.Cys287Ter)
|
|
|
NM_000426.4(LAMA2):c.8625dup (p.Ala2876fs)
|
|
|
NM_000426.4(LAMA2):c.872del (p.Gly291fs)
|
rs1222620175
|
|
NM_000426.4(LAMA2):c.8787_8793del (p.Phe2929fs)
|
|
|
NM_000426.4(LAMA2):c.8849_8857+1del
|
|
|
NM_000426.4(LAMA2):c.8876G>C (p.Gly2959Ala)
|
rs1393350402
|
|
NM_000426.4(LAMA2):c.8953dup (p.Met2985fs)
|
|
|
NM_000426.4(LAMA2):c.8958_8961del (p.Asp2986fs)
|
|
|
NM_000426.4(LAMA2):c.8979_8982dup (p.Glu2995Ter)
|
|
|
NM_000426.4(LAMA2):c.917G>A (p.Arg306His)
|
rs1023922833
|
|
NM_000426.4(LAMA2):c.9221del (p.Lys3074fs)
|
|
|
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)
|
rs121913571
|
|
NM_000426.4(LAMA2):c.938_939del (p.Thr313fs)
|
rs2114967814
|
|
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)
|
rs1554227092
|
|
NM_000426.4(LAMA2):c.987del (p.Trp330fs)
|
|
|
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
|
|
|
NM_001077365.2(POMT1):c.101_102insTA (p.Tyr36fs)
|
|
|
NM_001077365.2(POMT1):c.103dup (p.Thr35fs)
|
|
|
NM_001077365.2(POMT1):c.1145del (p.Val382fs)
|
|
|
NM_001077365.2(POMT1):c.1175+2dup
|
rs886041907
|
|
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
|
|
|
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter)
|
rs1554778005
|
|
NM_001077365.2(POMT1):c.1272+1G>A
|
rs2131751359
|
|
NM_001077365.2(POMT1):c.1272+2dup
|
|
|
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)
|
|
|
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)
|
rs1554780670
|
|
NM_001077365.2(POMT1):c.1436del (p.Gly479fs)
|
|
|
NM_001077365.2(POMT1):c.1477_1486del (p.Tyr493fs)
|
|
|
NM_001077365.2(POMT1):c.1550del (p.Asn517fs)
|
|
|
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
|
|
|
NM_001077365.2(POMT1):c.1637G>C (p.Ser546Thr)
|
rs1949619639
|
|
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
|
|
|
NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)
|
|
|
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)
|
rs750195040
|
|
NM_001077365.2(POMT1):c.1758del (p.Ile587fs)
|
|
|
NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)
|
|
|
NM_001077365.2(POMT1):c.1821_1822dup (p.Gln608fs)
|
|
|
NM_001077365.2(POMT1):c.1842_1860dup (p.Cys621fs)
|
|
|
NM_001077365.2(POMT1):c.1983_1987del (p.His661fs)
|
|
|
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs)
|
rs1950265792
|
|
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)
|
rs138902646
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.2140del (p.Trp714fs)
|
|
|
NM_001077365.2(POMT1):c.2142del (p.Arg713_Trp714insTer)
|
|
|
NM_001077365.2(POMT1):c.229+2T>C
|
rs1945782278
|
|
NM_001077365.2(POMT1):c.230-2A>G
|
|
|
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
|
|
|
NM_001077365.2(POMT1):c.389_407del (p.His130fs)
|
|
|
NM_001077365.2(POMT1):c.389del (p.His130fs)
|
|
|
NM_001077365.2(POMT1):c.485del (p.Phe162fs)
|
rs1250351189
|
|
NM_001077365.2(POMT1):c.514_518delinsTCCTAC (p.Lys172fs)
|
|
|
NM_001077365.2(POMT1):c.545T>G (p.Phe182Cys)
|
rs1946684104
|
|
NM_001077365.2(POMT1):c.583del (p.Val195fs)
|
|
|
NM_001077365.2(POMT1):c.605+1G>C
|
rs766648827
|
|
NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)
|
|
|
NM_001077365.2(POMT1):c.699+14_699+17dup
|
|
|
NM_001077365.2(POMT1):c.699+24C>A
|
|
|
NM_001077365.2(POMT1):c.699+67G>T
|
rs776061161
|
|
NM_001077365.2(POMT1):c.699+67dup
|
|
|
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)
|
rs398124247
|
|
NM_001077365.2(POMT1):c.773TCT[1] (p.Phe259del)
|
|
|
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)
|
rs765230689
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter)
|
rs886042554
|
|
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)
|
rs1202301143
|
|
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)
|
rs765826390
|
|
NM_001848.3(COL6A1):c.2024G>C (p.Ser675Thr)
|
rs2077848878
|
|
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001849.4(COL6A2):c.201C>T (p.Leu67=)
|
rs1601216910
|
|
NM_001849.4(COL6A2):c.2422+1G>A
|
rs113828929
|
|
NM_002206.3(ITGA7):c.1114C>T (p.Arg372Trp)
|
rs752464052
|
|
NM_002206.3(ITGA7):c.605C>T (p.Ala202Val)
|
rs1873873897
|
|
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met)
|
rs148175795
|
|
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu)
|
rs754840728
|
|
NM_004369.4(COL6A3):c.6210+1G>A
|
rs398124126
|
|
NM_004369.4(COL6A3):c.6283-28A>G
|
|
|
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)
|
|
|
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg)
|
rs761156771
|
|
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp)
|
rs771424958
|
|
NM_004369.4(COL6A3):c.7975C>T (p.Gln2659Ter)
|
rs2076974450
|
|
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)
|
|
|
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg)
|
|
|
NM_004370.6(COL12A1):c.4602C>T (p.Asp1534=)
|
rs1767127938
|
|
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)
|
rs796052093
|
|
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys)
|
rs1770598850
|
|
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn)
|
rs1768550579
|
|
NM_004393.6(DAG1):c.272G>A (p.Gly91Glu)
|
rs766324183
|
|
NM_004393.6(DAG1):c.751del (p.Val251fs)
|
rs1575410881
|
|
NM_005198.5(CHKB):c.1064T>C (p.Leu355Pro)
|
rs2070626510
|
|
NM_007171.4(POMT1):c.429_430del
|
|
|
NM_013382.7(POMT2):c.1006+4_1006+7del
|
rs1594794303
|
|
NM_013382.7(POMT2):c.1183+1G>A
|
|
|
NM_013382.7(POMT2):c.1184-1G>C
|
|
|
NM_013382.7(POMT2):c.118C>T (p.Arg40Ter)
|
|
|
NM_013382.7(POMT2):c.1254-2A>G
|
|
|
NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)
|
|
|
NM_013382.7(POMT2):c.1293dup (p.Met432fs)
|
rs1555352706
|
|
NM_013382.7(POMT2):c.1333-14G>A
|
rs918556979
|
|
NM_013382.7(POMT2):c.1341_1342del (p.Asp449fs)
|
|
|
NM_013382.7(POMT2):c.141G>A (p.Trp47Ter)
|
|
|
NM_013382.7(POMT2):c.163dup (p.Val55fs)
|
|
|
NM_013382.7(POMT2):c.1658dup (p.Asn553fs)
|
rs886043110
|
|
NM_013382.7(POMT2):c.1704G>A (p.Trp568Ter)
|
|
|
NM_013382.7(POMT2):c.1712dup (p.Ile572fs)
|
rs780725241
|
|
NM_013382.7(POMT2):c.1781A>G (p.Asn594Ser)
|
|
|
NM_013382.7(POMT2):c.1786-2A>T
|
|
|
NM_013382.7(POMT2):c.188del (p.Leu63fs)
|
|
|
NM_013382.7(POMT2):c.2147+1del
|
|
|
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)
|
rs1452558347
|
|
NM_013382.7(POMT2):c.248+1G>A
|
|
|
NM_013382.7(POMT2):c.248+1G>T
|
|
|
NM_013382.7(POMT2):c.253del (p.Asp85fs)
|
|
|
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)
|
|
|
NM_013382.7(POMT2):c.673del (p.Trp225fs)
|
rs1594796439
|
|
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
|
|
|
NM_013382.7(POMT2):c.924-2A>C
|
rs886044256
|
|
NM_014254.3(RXYLT1):c.92G>T (p.Arg31Leu)
|
rs1897636551
|
|
NM_016532.4(INPP5K):c.302T>C (p.Phe101Ser)
|
rs2075263105
|
|
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)
|
rs751254522
|
|
NM_017739.4(POMGNT1):c.1027-2_1027-1del
|
rs1057516536
|
|
NM_017739.4(POMGNT1):c.1096del (p.Ala366fs)
|
|
|
NM_017739.4(POMGNT1):c.1152+1G>A
|
rs1474858292
|
|
NM_017739.4(POMGNT1):c.1229_1232del (p.Ile410fs)
|
|
|
NM_017739.4(POMGNT1):c.1284+2_1284+19del
|
rs1057516409
|
|
NM_017739.4(POMGNT1):c.1285-2A>G
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1287dup
|
|
|
NM_017739.4(POMGNT1):c.12del (p.Asp3_Trp4insTer)
|
|
|
NM_017739.4(POMGNT1):c.1397G>A (p.Trp466Ter)
|
|
|
NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)
|
|
|
NM_017739.4(POMGNT1):c.1414-1G>T
|
|
|
NM_017739.4(POMGNT1):c.1414-2A>C
|
|
|
NM_017739.4(POMGNT1):c.1431del (p.Met477fs)
|
|
|
NM_017739.4(POMGNT1):c.1450C>T (p.Gln484Ter)
|
|
|
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)
|
rs727504103
|
|
NM_017739.4(POMGNT1):c.1539+1del
|
rs1553163077
|
|
NM_017739.4(POMGNT1):c.1585C>T (p.Gln529Ter)
|
|
|
NM_017739.4(POMGNT1):c.1605-2_1606del
|
|
|
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)
|
|
|
NM_017739.4(POMGNT1):c.1649+2T>G
|
rs1268759044
|
|
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)
|
rs193919335
|
|
NM_017739.4(POMGNT1):c.1650-2A>G
|
|
|
NM_017739.4(POMGNT1):c.1684dup (p.Cys562fs)
|
|
|
NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs)
|
rs1302430730
|
|
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.185_186insA (p.Arg63fs)
|
rs1057517153
|
|
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)
|
rs386834022
|
|
NM_017739.4(POMGNT1):c.1895+1G>A
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.1896-1G>C
|
rs386834025
|
|
NM_017739.4(POMGNT1):c.215dup (p.Glu73fs)
|
|
|
NM_017739.4(POMGNT1):c.236-1_236del
|
|
|
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)
|
|
|
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)
|
rs749603354
|
|
NM_017739.4(POMGNT1):c.390del (p.Ile131fs)
|
|
|
NM_017739.4(POMGNT1):c.478del (p.Met160fs)
|
rs1057517355
|
|
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)
|
rs1424631447
|
|
NM_017739.4(POMGNT1):c.584del (p.Ser195fs)
|
|
|
NM_017739.4(POMGNT1):c.599del (p.Ala200fs)
|
|
|
NM_017739.4(POMGNT1):c.640G>T (p.Gly214Ter)
|
|
|
NM_017739.4(POMGNT1):c.652+1G>A
|
rs386834035
|
|
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)
|
rs386834036
|
|
NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter)
|
|
|
NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg)
|
rs1658069732
|
|
NM_017739.4(POMGNT1):c.752-2A>G
|
rs1236287516
|
|
NM_017739.4(POMGNT1):c.862G>T (p.Glu288Ter)
|
|
|
NM_017739.4(POMGNT1):c.875del (p.Asp292fs)
|
rs1057517247
|
|
NM_017739.4(POMGNT1):c.879+2T>G
|
|
|
NM_017739.4(POMGNT1):c.879+5G>A
|
rs386834038
|
|
NM_017739.4(POMGNT1):c.880-1G>A
|
rs1317832573
|
|
NM_017739.4(POMGNT1):c.880-1G>C
|
rs1317832573
|
|
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)
|
rs1557673817
|
|
NM_020451.3(SELENON):c.1387+1G>A
|
rs2047977957
|
|
NM_021971.4(GMPPB):c.388G>A (p.Glu130Lys)
|
rs367734644
|
|
NM_021971.4(GMPPB):c.38G>T (p.Arg13Leu)
|
rs1183380163
|
|
NM_024301.5(FKRP):c.1000G>T (p.Glu334Ter)
|
|
|
NM_024301.5(FKRP):c.1020C>G (p.Tyr340Ter)
|
|
|
NM_024301.5(FKRP):c.1022G>A (p.Trp341Ter)
|
|
|
NM_024301.5(FKRP):c.1067T>C (p.Ile356Thr)
|
|
|
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter)
|
rs1060502109
|
|
NM_024301.5(FKRP):c.1104C>A (p.Tyr368Ter)
|
|
|
NM_024301.5(FKRP):c.1117_1124del (p.Gly373fs)
|
|
|
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)
|
rs754403441
|
|
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)
|
rs104894680
|
|
NM_024301.5(FKRP):c.1168_1177dup (p.Val393fs)
|
|
|
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs)
|
rs748087383
|
|
NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)
|
|
|
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu)
|
rs28937904
|
|
NM_024301.5(FKRP):c.1216C>T (p.Gln406Ter)
|
|
|
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
|
|
|
NM_024301.5(FKRP):c.1336del (p.Leu446fs)
|
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
NM_024301.5(FKRP):c.1415del (p.Lys472fs)
|
rs1555739280
|
|
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)
|
rs1290836394
|
|
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)
|
rs886042506
|
|
NM_024301.5(FKRP):c.206_208del (p.Ser69del)
|
rs2054893955
|
|
NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)
|
|
|
NM_024301.5(FKRP):c.352G>T (p.Glu118Ter)
|
|
|
NM_024301.5(FKRP):c.433_455del (p.Val145fs)
|
|
|
NM_024301.5(FKRP):c.447_451del (p.Ala150fs)
|
|
|
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)
|
rs727502842
|
|
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg)
|
rs1555738483
|
|
NM_024301.5(FKRP):c.511_523del (p.Leu171fs)
|
rs1314297056
|
|
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)
|
rs1555738502
|
|
NM_024301.5(FKRP):c.544del (p.Tyr182fs)
|
|
|
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)
|
rs759875552
|
|
NM_024301.5(FKRP):c.632del (p.Ser211fs)
|
|
|
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg)
|
rs28937902
|
|
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys)
|
rs2122621481
|
|
NM_024301.5(FKRP):c.712_713del (p.Leu238fs)
|
|
|
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)
|
rs1555738753
|
|
NM_024301.5(FKRP):c.795_811del (p.Ala267fs)
|
|
|
NM_024301.5(FKRP):c.88C>T (p.Gln30Ter)
|
|
|
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)
|
rs765885747
|
|
NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)
|
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
NM_024301.5(FKRP):c.948del (p.Cys317fs)
|
rs748798133
|
|
NM_024301.5(FKRP):c.984T>A (p.Tyr328Ter)
|
|
|
NM_032806.6(POMGNT2):c.1553G>A (p.Arg518Lys)
|
rs2089830692
|
|
NM_032806.6(POMGNT2):c.891C>A (p.Asn297Lys)
|
rs1269685677
|
|
NM_032806.6(POMGNT2):c.931G>A (p.Ala311Thr)
|
rs2089840767
|
|
NM_133642.5(LARGE1):c.1553A>C (p.Gln518Pro)
|
rs756533976
|
|
NM_133642.5(LARGE1):c.1612G>A (p.Gly538Ser)
|
rs768675700
|
|
NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr)
|
rs1553342979
|
|
NM_152490.5(B3GALNT2):c.763-1G>A
|
rs780433836
|
|
NM_170707.4(LMNA):c.113T>A (p.Leu38His)
|
rs1558116084
|
|
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys)
|
rs1281896947
|
|
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
|
rs121912496
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1138dup (p.Ala380fs)
|
rs761899995
|
|
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs)
|
rs778172294
|
|
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs)
|
rs797045040
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
|
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu)
|
rs376251309
|
|