NM_005198.5(CHKB):c.38C>T (p.Ala13Val)
|
rs779585255
|
0.00026
|
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter)
|
rs200390529
|
0.00025
|
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)
|
rs369292604
|
0.00017
|
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met)
|
rs142756842
|
0.00016
|
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)
|
rs769795690
|
0.00006
|
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter)
|
rs17854600
|
0.00006
|
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)
|
rs763348222
|
0.00006
|
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)
|
rs749760185
|
0.00005
|
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)
|
rs764129993
|
0.00004
|
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)
|
rs766488017
|
0.00004
|
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)
|
rs375640462
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)
|
rs1235556906
|
0.00003
|
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys)
|
rs201337277
|
0.00003
|
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His)
|
rs578183193
|
0.00001
|
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser)
|
rs745485695
|
0.00001
|
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile)
|
rs755052076
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser)
|
rs766458058
|
0.00001
|
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)
|
rs1013873051
|
0.00001
|
NM_005198.5(CHKB):c.138G>T (p.Glu46Asp)
|
rs752292240
|
0.00001
|
NM_024301.5(FKRP):c.968G>A (p.Arg323His)
|
rs1349031936
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_000426.4(LAMA2):c.397-4_478del
|
rs1554217494
|
|
NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln)
|
rs1554287445
|
|
NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr)
|
rs1299914386
|
|
NM_000426.4(LAMA2):c.7452-1G>A
|
rs1554304931
|
|
NM_000426.4(LAMA2):c.8591A>T (p.Asp2864Val)
|
rs778258870
|
|
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg)
|
rs886039896
|
|
NM_000426.4(LAMA2):c.872G>C (p.Gly291Ala)
|
rs1554226736
|
|
NM_000426.4(LAMA2):c.9128G>A (p.Gly3043Glu)
|
rs762958440
|
|
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)
|
rs119463996
|
|
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)
|
rs587777798
|
|
NM_001101426.4(CRPPA):c.722del (p.Leu241fs)
|
rs1554320168
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
NM_001849.4(COL6A2):c.148G>A (p.Val50Met)
|
rs727502826
|
|
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly)
|
rs1568940242
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
NM_002206.3(ITGA7):c.2182del (p.Ala728fs)
|
rs1565622052
|
|
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)
|
rs755536829
|
|
NM_005198.5(CHKB):c.382G>T (p.Glu128Ter)
|
rs1569054086
|
|
NM_005198.5(CHKB):c.860A>C (p.Asp287Ala)
|
rs1569052732
|
|
NM_013382.7(POMT2):c.334-3C>A
|
rs1566658848
|
|
NM_017739.4(POMGNT1):c.355-3T>G
|
rs1553163972
|
|
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)
|
rs1553261858
|
|
NM_170707.4(LMNA):c.703C>A (p.Arg235Ser)
|
rs201227908
|
|
NM_173660.5(DOK7):c.626C>T (p.Pro209Leu)
|
rs902286336
|
|
NR_027928.2(CHKB-CPT1B):n.772_780del
|
rs1603443745
|
|