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_000426.4(LAMA2):c.1400A>G (p.Lys467Arg)
|
rs138162760
|
0.00071
|
NM_032237.5(POMK):c.565A>G (p.Ile189Val)
|
rs149297443
|
0.00057
|
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)
|
rs150378645
|
0.00038
|
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe)
|
rs185213208
|
0.00032
|
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_013382.7(POMT2):c.1978G>T (p.Val660Phe)
|
rs200690151
|
0.00009
|
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_001077365.2(POMT1):c.847A>C (p.Ser283Arg)
|
rs747506380
|
0.00006
|
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)
|
rs371741722
|
0.00006
|
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu)
|
rs149747266
|
0.00006
|
NM_016532.4(INPP5K):c.119A>G (p.Asn40Ser)
|
rs547379014
|
0.00005
|
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr)
|
rs759117081
|
0.00005
|
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_133642.5(LARGE1):c.221A>C (p.Glu74Ala)
|
rs751789128
|
0.00004
|
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_016213.5(TRIP4):c.1465C>T (p.Arg489Cys)
|
rs764341782
|
0.00003
|
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)
|
rs936866997
|
0.00003
|
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)
|
rs143626559
|
0.00002
|
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile)
|
rs199814707
|
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_017739.4(POMGNT1):c.753G>T (p.Glu251Asp)
|
rs751316371
|
0.00002
|
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)
|
rs200863680
|
0.00002
|
NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser)
|
rs747246881
|
0.00001
|
NM_000426.4(LAMA2):c.4699G>A (p.Glu1567Lys)
|
rs371388948
|
0.00001
|
NM_000426.4(LAMA2):c.5285G>A (p.Arg1762Gln)
|
rs138296015
|
0.00001
|
NM_000426.4(LAMA2):c.5938G>A (p.Glu1980Lys)
|
rs769574222
|
0.00001
|
NM_000426.4(LAMA2):c.8398G>A (p.Gly2800Ser)
|
rs758491978
|
0.00001
|
NM_001077365.2(POMT1):c.1528G>A (p.Ala510Thr)
|
rs1276417965
|
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_013403.3(STRN4):c.282+55T>C
|
rs2054592600
|
0.00001
|
NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys)
|
rs762546512
|
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_000426.4(LAMA2):c.1454C>T (p.Pro485Leu)
|
rs146522136
|
|
NM_000426.4(LAMA2):c.155T>G (p.Ile52Ser)
|
rs1380745222
|
|
NM_000426.4(LAMA2):c.1755C>T (p.Ser585=)
|
rs1012171328
|
|
NM_000426.4(LAMA2):c.4717+5G>A
|
rs776050258
|
|
NM_000426.4(LAMA2):c.5181A>C (p.Glu1727Asp)
|
rs1779325827
|
|
NM_000426.4(LAMA2):c.6752C>A (p.Pro2251His)
|
rs546395293
|
|
NM_000426.4(LAMA2):c.8484C>G (p.Asp2828Glu)
|
rs1785788819
|
|
NM_000426.4(LAMA2):c.8876G>C (p.Gly2959Ala)
|
rs1393350402
|
|
NM_000426.4(LAMA2):c.917G>A (p.Arg306His)
|
rs1023922833
|
|
NM_001077365.2(POMT1):c.1637G>C (p.Ser546Thr)
|
rs1949619639
|
|
NM_001077365.2(POMT1):c.545T>G (p.Phe182Cys)
|
rs1946684104
|
|
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)
|
rs765826390
|
|
NM_001848.3(COL6A1):c.2024G>C (p.Ser675Thr)
|
rs2077848878
|
|
NM_001849.4(COL6A2):c.201C>T (p.Leu67=)
|
rs1601216910
|
|
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.6283-28A>G
|
|
|
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg)
|
rs761156771
|
|
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp)
|
rs771424958
|
|
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.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_005198.5(CHKB):c.1064T>C (p.Leu355Pro)
|
rs2070626510
|
|
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.703G>A (p.Gly235Arg)
|
rs1658069732
|
|
NM_021971.4(GMPPB):c.388G>A (p.Glu130Lys)
|
rs367734644
|
|
NM_021971.4(GMPPB):c.38G>T (p.Arg13Leu)
|
rs1183380163
|
|
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_170707.4(LMNA):c.113T>A (p.Leu38His)
|
rs1558116084
|
|
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys)
|
rs1281896947
|
|
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu)
|
rs376251309
|
|