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NM_000093.5(COL5A1):c.1935+8T>G
|
rs79195626
|
0.02373
|
NM_000093.5(COL5A1):c.1882-133A>G
|
rs113765880
|
0.02356
|
NM_000093.5(COL5A1):c.1882-256C>T
|
rs75558962
|
0.02342
|
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)
|
rs138579182
|
0.02227
|
NM_000093.5(COL5A1):c.3366+52G>A
|
rs115451002
|
0.02142
|
NM_000093.5(COL5A1):c.2430+196C>T
|
rs75545068
|
0.02124
|
NM_000093.5(COL5A1):c.1936-299C>T
|
rs77630402
|
0.02064
|
NM_000093.5(COL5A1):c.2844+41G>T
|
rs76043837
|
0.02031
|
NM_000093.5(COL5A1):c.1164+87T>A
|
rs142673093
|
0.01946
|
NM_000093.5(COL5A1):c.2088+227G>A
|
rs12351175
|
0.01940
|
NM_000093.5(COL5A1):c.109+37G>A
|
rs186654380
|
0.01789
|
NM_000093.5(COL5A1):c.2701-186T>C
|
rs114433844
|
0.01740
|
NM_000093.5(COL5A1):c.924+35C>A
|
rs112243377
|
0.01719
|
NM_000093.5(COL5A1):c.2799+4T>C
|
rs75815945
|
0.01279
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
NM_000093.5(COL5A1):c.787-15G>A
|
rs150200872
|
0.00704
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
NM_000093.5(COL5A1):c.4231-12G>A
|
rs188473199
|
0.00543
|
NM_000093.5(COL5A1):c.3690+44C>T
|
rs76739261
|
0.00524
|
NM_000093.5(COL5A1):c.4393-17C>T
|
rs141152269
|
0.00515
|
NM_000093.5(COL5A1):c.-37G>A
|
rs374979485
|
0.00508
|
NM_000093.5(COL5A1):c.1333-8A>G
|
rs145620416
|
0.00360
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_000093.5(COL5A1):c.4176+50A>C
|
rs571141215
|
0.00232
|
NM_000093.5(COL5A1):c.1432-32T>C
|
rs75398357
|
0.00201
|
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)
|
rs61729497
|
0.00194
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)
|
rs139468527
|
0.00124
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=)
|
rs78215347
|
0.00101
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met)
|
rs149616140
|
0.00087
|
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=)
|
rs143858735
|
0.00071
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln)
|
rs781667754
|
0.00010
|
NM_000093.5(COL5A1):c.1495-11C>A
|
rs199501759
|
0.00008
|
NM_000093.5(COL5A1):c.1971G>A (p.Pro657=)
|
rs981088114
|
0.00005
|
GRCh37/hg19 9q34.3(chr9:137648314-137664433)x1
|
|
|
GRCh37/hg19 9q34.3(chr9:137721555-137730384)x1
|
|
|
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)
|
rs199755089
|
|
NM_000093.5(COL5A1):c.1494+129del
|
rs112726102
|
|
NM_000093.5(COL5A1):c.1662+134T>C
|
rs60008082
|
|
NM_000093.5(COL5A1):c.1663-158del
|
rs11386016
|
|
NM_000093.5(COL5A1):c.1663-159_1663-158del
|
rs11386016
|
|
NM_000093.5(COL5A1):c.1663-160G>T
|
rs56669635
|
|
NM_000093.5(COL5A1):c.1663-160_1663-158del
|
rs11386016
|
|
NM_000093.5(COL5A1):c.1663-166G>T
|
rs112206433
|
|
NM_000093.5(COL5A1):c.1720-158C>G
|
rs73664129
|
|
NM_000093.5(COL5A1):c.1881+292G>A
|
rs7025035
|
|
NM_000093.5(COL5A1):c.2233-142G>C
|
rs41302968
|
|
NM_000093.5(COL5A1):c.2331+247_2331+265dup
|
rs6151208
|
|
NM_000093.5(COL5A1):c.2386-174C>T
|
rs77928388
|
|
NM_000093.5(COL5A1):c.2386-210_2386-209del
|
rs35886496
|
|
NM_000093.5(COL5A1):c.2485-191C>A
|
rs7855838
|
|
NM_000093.5(COL5A1):c.2485-191C>T
|
rs7855838
|
|
NM_000093.5(COL5A1):c.2485-34_2485-33insGGCA
|
rs376936600
|
|
NM_000093.5(COL5A1):c.2485-34_2485-33insGGGGCA
|
rs376936600
|
|
NM_000093.5(COL5A1):c.2485-39_2485-38insT
|
rs779225921
|
|
NM_000093.5(COL5A1):c.2485-39_2485-38insTGT
|
rs779225921
|
|
NM_000093.5(COL5A1):c.2592+16C>G
|
rs145429817
|
|
NM_000093.5(COL5A1):c.2592+75G>A
|
rs71506921
|
|
NM_000093.5(COL5A1):c.2799+112dup
|
rs79903250
|
|
NM_000093.5(COL5A1):c.2800-18C>A
|
rs73664144
|
|
NM_000093.5(COL5A1):c.2898+287TC[3]
|
rs10636721
|
|
NM_000093.5(COL5A1):c.2898+53_2898+72del
|
rs142676375
|
|
NM_000093.5(COL5A1):c.2953-153del
|
rs35171316
|
|
NM_000093.5(COL5A1):c.2953-153dup
|
rs35171316
|
|
NM_000093.5(COL5A1):c.2953-235AG[3]
|
rs56665904
|
|
NM_000093.5(COL5A1):c.3474+48G>A
|
rs79433650
|
|
NM_000093.5(COL5A1):c.3475-208G>T
|
rs13293484
|
|
NM_000093.5(COL5A1):c.3528+46G>C
|
rs3827850
|
|
NM_000093.5(COL5A1):c.3852+205del
|
rs10708719
|
|
NM_000093.5(COL5A1):c.3852+47_3852+48del
|
rs761727852
|
|
NM_000093.5(COL5A1):c.3852+48GT[8]
|
rs375849402
|
|
NM_000093.5(COL5A1):c.3852+62_3852+65del
|
rs538329277
|
|
NM_000093.5(COL5A1):c.3852+62_3852+69del
|
rs879323430
|
|
NM_000093.5(COL5A1):c.4123-69A>G
|
rs3811149
|
|
NM_000093.5(COL5A1):c.4176+162C>A
|
rs79839026
|
|
NM_000093.5(COL5A1):c.4176+257C>G
|
rs11103537
|
|
NM_000093.5(COL5A1):c.654+165T>G
|
rs11103472
|
|
NM_000093.5(COL5A1):c.655-186_655-185insACGGATGGATGG
|
rs139171326
|
|
NM_000093.5(COL5A1):c.655-219GGAT[7]
|
rs71381829
|
|
NM_000093.5(COL5A1):c.655-219GGAT[9]
|
rs71381829
|
|
NM_000093.5(COL5A1):c.787-9C>T
|
rs751472921
|
|
NM_000093.5(COL5A1):c.924+194A>C
|
rs3128597
|
|