NM_000093.5(COL5A1):c.787-15G>A
|
rs150200872
|
0.00704
|
NM_000093.5(COL5A1):c.3204+3G>A
|
rs202054108
|
0.00112
|
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)
|
rs772521985
|
0.00067
|
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu)
|
rs142114921
|
0.00031
|
NM_000093.5(COL5A1):c.2331+16G>A
|
rs199654385
|
0.00028
|
NM_000093.5(COL5A1):c.5137-8C>T
|
rs374377228
|
0.00017
|
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)
|
rs933589600
|
0.00013
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_000093.5(COL5A1):c.2700+191C>T
|
rs183885286
|
0.00011
|
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)
|
rs201486858
|
0.00011
|
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln)
|
rs781667754
|
0.00010
|
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys)
|
rs369126350
|
0.00009
|
NM_000093.5(COL5A1):c.4068+7G>A
|
rs587780905
|
0.00009
|
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu)
|
rs375456811
|
0.00006
|
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp)
|
rs886063676
|
0.00006
|
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met)
|
rs764446683
|
0.00006
|
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His)
|
rs777045810
|
0.00006
|
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)
|
rs770554435
|
0.00006
|
NM_000393.5(COL5A2):c.389G>A (p.Arg130His)
|
rs377331666
|
0.00006
|
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)
|
rs759580799
|
0.00005
|
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu)
|
rs760539229
|
0.00004
|
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser)
|
rs776709663
|
0.00003
|
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys)
|
rs753433375
|
0.00003
|
NM_000393.5(COL5A2):c.1006-8G>A
|
rs200405052
|
0.00003
|
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg)
|
rs962170388
|
0.00002
|
NM_000093.5(COL5A1):c.4739C>T (p.Ala1580Val)
|
rs528826181
|
0.00002
|
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp)
|
rs546865410
|
0.00002
|
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp)
|
rs558906147
|
0.00002
|
NM_000093.5(COL5A1):c.5371-8T>C
|
rs1352923765
|
0.00002
|
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn)
|
rs781248560
|
0.00002
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
NM_002474.3(MYH11):c.2139G>C (p.Gln713His)
|
rs779897931
|
0.00002
|
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser)
|
rs867576281
|
0.00002
|
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu)
|
rs751337133
|
0.00001
|
NM_000093.5(COL5A1):c.1462C>T (p.Pro488Ser)
|
rs1238395732
|
0.00001
|
NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser)
|
rs142612655
|
0.00001
|
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu)
|
rs772211736
|
0.00001
|
NM_000093.5(COL5A1):c.492-3C>T
|
rs1027866868
|
0.00001
|
NM_000393.5(COL5A2):c.1681G>A (p.Gly561Arg)
|
rs1184276149
|
0.00001
|
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val)
|
rs1270917752
|
0.00001
|
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val)
|
rs747843876
|
0.00001
|
NM_000393.5(COL5A2):c.3363+2T>C
|
rs1559076442
|
0.00001
|
NM_000393.5(COL5A2):c.798+5G>A
|
rs1296613540
|
0.00001
|
NC_000002.12:g.(?_189078506)_(189081053_?)del
|
|
|
NC_000002.12:g.(?_189100087)_(189100159_?)del
|
|
|
NC_000009.11:g.(?_134379574)_(138678377_?)dup
|
|
|
NC_000009.11:g.(?_137533651)_(137534142_?)dup
|
|
|
NC_000009.11:g.(?_137721802)_(137734169_?)dup
|
|
|
NC_000009.12:g.(?_134690892)_(134691099_?)del
|
|
|
NC_000009.12:g.(?_134727246)_(134728827_?)del
|
|
|
NC_000009.12:g.(?_134789143)_(134789218_?)dup
|
|
|
NC_000009.12:g.(?_134842137)_(134842323_?)del
|
|
|
NC_000009.12:g.(?_134842147)_(134842313_?)del
|
|
|
NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg)
|
rs1835194865
|
|
NM_000093.5(COL5A1):c.1544C>T (p.Pro515Leu)
|
rs1449896543
|
|
NM_000093.5(COL5A1):c.2030A>T (p.Glu677Val)
|
rs1564443811
|
|
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)
|
rs559882772
|
|
NM_000093.5(COL5A1):c.384del (p.Ile128fs)
|
rs1833612720
|
|
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=)
|
rs773853291
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys)
|
rs1554806963
|
|
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp)
|
rs1554781678
|
|
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter)
|
rs1057518004
|
|
NM_000093.5(COL5A1):c.710G>A (p.Cys237Tyr)
|
rs1588475947
|
|
NM_000393.5(COL5A2):c.1332_1349del (p.Ala446_Ser451del)
|
rs1686191596
|
|
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=)
|
rs863223491
|
|
NM_000393.5(COL5A2):c.2602C>A (p.Gln868Lys)
|
rs1553514451
|
|
NM_000393.5(COL5A2):c.28C>A (p.Pro10Thr)
|
rs1457897938
|
|
NM_000393.5(COL5A2):c.3103G>A (p.Gly1035Arg)
|
rs1685735868
|
|
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu)
|
rs867460091
|
|
NM_000393.5(COL5A2):c.4069A>T (p.Asn1357Tyr)
|
rs1157866285
|
|
NM_000393.5(COL5A2):c.4163C>A (p.Thr1388Asn)
|
rs771415085
|
|
NM_000393.5(COL5A2):c.668C>T (p.Pro223Leu)
|
rs201941612
|
|
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val)
|
rs1211991688
|
|
NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His)
|
rs1557177310
|
|
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro)
|
rs1555887820
|
|
Single allele
|
|
|