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NM_000393.5(COL5A2):c.2032-39A>T
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NM_000393.5(COL5A2):c.4353+101A>G
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NM_000393.5(COL5A2):c.4353+70A>G
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NM_000393.5(COL5A2):c.1977+85G>C
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NM_000393.5(COL5A2):c.2500-134A>G
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NM_000393.5(COL5A2):c.322+157C>T
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NM_000393.5(COL5A2):c.906+302C>T
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NM_000393.5(COL5A2):c.2130+141T>G
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NM_000393.5(COL5A2):c.98-240A>T
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NM_000393.5(COL5A2):c.3526-324C>T
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NM_000393.5(COL5A2):c.4113+47C>T
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NM_000393.5(COL5A2):c.4113+282G>A
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NM_000393.5(COL5A2):c.4114-212G>A
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NM_000393.5(COL5A2):c.1158+79A>C
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NM_000393.5(COL5A2):c.1563+262C>T
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NM_000393.5(COL5A2):c.2445+98G>A
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NM_000393.5(COL5A2):c.2770-306A>G
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NM_000393.5(COL5A2):c.2085+143C>G
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NM_000393.5(COL5A2):c.2715+238A>T
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NM_000393.5(COL5A2):c.2715+237A>T
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NM_000393.5(COL5A2):c.2715+236A>T
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NM_000393.5(COL5A2):c.3148-285G>A
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NC_000002.12:g.189180039C>T
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NM_000393.5(COL5A2):c.4113+223G>T
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NM_000393.5(COL5A2):c.1717-76del
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NM_000393.5(COL5A2):c.691-261_691-260dup
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NM_000393.5(COL5A2):c.2716-141G>A
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NM_000393.5(COL5A2):c.3310-164C>T
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NM_000393.5(COL5A2):c.852+14C>T
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NM_000393.5(COL5A2):c.691-58C>T
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NM_000393.5(COL5A2):c.852+59C>A
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NM_000393.5(COL5A2):c.906+62A>C
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NM_000393.5(COL5A2):c.745-130C>T
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NM_000393.5(COL5A2):c.906+178A>G
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NM_000393.5(COL5A2):c.798+127G>A
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NM_000393.5(COL5A2):c.852+161A>G
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NM_000393.5(COL5A2):c.690+169A>G
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NM_000393.5(COL5A2):c.1159-76C>T
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NM_000393.5(COL5A2):c.798+99C>A
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NM_000393.5(COL5A2):c.798+100A>T
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NM_000393.5(COL5A2):c.568-181A>C
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NM_000393.5(COL5A2):c.337-310A>G
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NM_000393.5(COL5A2):c.457-325C>T
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NM_000393.5(COL5A2):c.369+86C>A
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NM_000393.5(COL5A2):c.456+232G>A
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NM_000393.5(COL5A2):c.370-301G>A
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NM_000393.5(COL5A2):c.568-10G>A
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NM_000393.5(COL5A2):c.568-53C>T
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NM_000393.5(COL5A2):c.337-26T>C
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NM_000393.5(COL5A2):c.337-105A>T
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NM_000393.5(COL5A2):c.2229+235T>A
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NM_000393.5(COL5A2):c.567+275A>G
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NM_000393.5(COL5A2):c.567+182G>T
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NM_000393.5(COL5A2):c.3040-207T>C
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NM_000393.5(COL5A2):c.2031+59T>A
|
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NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)
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NM_000393.5(COL5A2):c.3525+174A>G
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NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)
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NM_000393.5(COL5A2):c.3926-216T>G
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NM_000393.5(COL5A2):c.3634-213T>A
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NM_000393.5(COL5A2):c.2031+279A>G
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NM_000393.5(COL5A2):c.3472-177T>C
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NM_000393.5(COL5A2):c.3634-124G>A
|
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NM_000393.5(COL5A2):c.3471+62C>T
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NM_000393.5(COL5A2):c.*298G>A
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NM_000393.5(COL5A2):c.315= (p.Thr105=)
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NM_000393.5(COL5A2):c.3633+118G>A
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NM_000393.5(COL5A2):c.3925+279A>G
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NM_000393.5(COL5A2):c.403-42A>G
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NM_000393.5(COL5A2):c.798+258T>C
|
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NM_000393.5(COL5A2):c.2931+233A>G
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NM_000393.5(COL5A2):c.960+228G>A
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NM_000393.5(COL5A2):c.3411= (p.Gly1137=)
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NC_000002.12:g.189179936A>G
|
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|
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NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)
|
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NM_000393.5(COL5A2):c.4354-137T>C
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NM_000393.5(COL5A2):c.3925+37G>T
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NM_000393.5(COL5A2):c.2031+60A>T
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NM_000393.5(COL5A2):c.3526-97G>A
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NM_000393.5(COL5A2):c.4353+69C>T
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NM_000393.5(COL5A2):c.853-297A>G
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NM_000393.5(COL5A2):c.798+286A>G
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NM_000393.5(COL5A2):c.3040-165G>A
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NM_000393.5(COL5A2):c.2338-24A>G
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NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)
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NM_000393.5(COL5A2):c.1770+287G>A
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NM_000393.5(COL5A2):c.2446-84A>G
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NM_000393.5(COL5A2):c.2715+42C>A
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NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
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NM_000393.5(COL5A2):c.2932-162G>A
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NM_000393.5(COL5A2):c.2392-41C>T
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NM_000393.5(COL5A2):c.2715+213T>C
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NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
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NM_000393.5(COL5A2):c.2337+27T>C
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NM_000393.5(COL5A2):c.*1904C>T
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NM_000393.5(COL5A2):c.*1960A>G
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NM_000393.5(COL5A2):c.4354-300A>T
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NM_000393.5(COL5A2):c.3310-108T>C
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NM_000393.5(COL5A2):c.2230-255T>C
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NM_000393.5(COL5A2):c.2553+88G>A
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NM_000393.5(COL5A2):c.853-89T>C
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NM_000393.5(COL5A2):c.645+108C>T
|
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|
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|
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NM_000393.5(COL5A2):c.1104+15T>C
|
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NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
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NM_000393.5(COL5A2):c.1005+200C>T
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NM_000393.5(COL5A2):c.2131-29G>C
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NM_000393.5(COL5A2):c.370-16C>T
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NM_000393.5(COL5A2):c.1402-207T>A
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NM_000393.5(COL5A2):c.2229+59G>A
|
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NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
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NM_000393.5(COL5A2):c.3147+46A>G
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NM_000393.5(COL5A2):c.2769+287T>C
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NM_000393.5(COL5A2):c.2499+37T>C
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NM_000393.5(COL5A2):c.2445+42T>A
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NM_000393.5(COL5A2):c.690+40C>T
|
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|
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NM_000393.5(COL5A2):c.3201+263G>A
|
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NM_000393.5(COL5A2):c.369+167A>T
|
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NM_000393.5(COL5A2):c.2230-54A>G
|
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NM_000393.5(COL5A2):c.906+90T>C
|
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NM_000393.5(COL5A2):c.1257+75A>G
|
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|
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NM_000393.5(COL5A2):c.568-130C>A
|
rs73051207
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NM_000393.5(COL5A2):c.403-250C>G
|
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|
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NM_000393.5(COL5A2):c.1257+55C>T
|
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|
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NM_000393.5(COL5A2):c.2553+52A>G
|
rs75502372
|
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NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
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NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
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NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)
|
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|
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|
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln)
|
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|
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NM_000393.5(COL5A2):c.1618-19C>G
|
rs189970491
|
0.00148
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
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|
0.00133
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
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|
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp)
|
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|
0.00119
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NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
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|
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NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
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NM_000393.5(COL5A2):c.960+35T>C
|
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NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)
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NM_000393.5(COL5A2):c.*848T>C
|
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|
0.00076
|
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)
|
rs141777954
|
0.00075
|
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)
|
rs151027388
|
0.00069
|
NM_000393.5(COL5A2):c.186T>C (p.Cys62=)
|
rs142832916
|
0.00066
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=)
|
rs143318792
|
0.00058
|
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser)
|
rs141644853
|
0.00051
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala)
|
rs141210030
|
0.00039
|
NM_000393.5(COL5A2):c.*904A>C
|
rs778818824
|
0.00038
|
NM_000393.5(COL5A2):c.745-13G>A
|
rs145442880
|
0.00038
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)
|
rs140952583
|
0.00036
|
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)
|
rs140609193
|
0.00033
|
NM_000393.5(COL5A2):c.852G>A (p.Pro284=)
|
rs150092345
|
0.00031
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
NM_000393.5(COL5A2):c.3526-45A>T
|
rs529927639
|
0.00029
|
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met)
|
rs369072636
|
0.00026
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=)
|
rs142544320
|
0.00026
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=)
|
rs376612765
|
0.00022
|
NM_000393.5(COL5A2):c.*939G>T
|
rs539647365
|
0.00021
|
NM_000393.5(COL5A2):c.2338-6T>C
|
rs375291199
|
0.00020
|
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile)
|
rs375124784
|
0.00019
|
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys)
|
rs372170366
|
0.00019
|
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=)
|
rs148229627
|
0.00018
|
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro)
|
rs34395097
|
0.00018
|
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His)
|
rs373288848
|
0.00018
|
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)
|
rs145258293
|
0.00016
|
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)
|
rs146175905
|
0.00016
|
NM_000393.5(COL5A2):c.263C>A (p.Pro88His)
|
rs149877855
|
0.00016
|
NM_000393.5(COL5A2):c.288T>C (p.Cys96=)
|
rs577308799
|
0.00016
|
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn)
|
rs140851866
|
0.00015
|
NM_000393.5(COL5A2):c.322+1G>C
|
rs770598613
|
0.00014
|
NM_000393.5(COL5A2):c.3925+34G>A
|
rs372307420
|
0.00014
|
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala)
|
rs542643688
|
0.00013
|
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)
|
rs933589600
|
0.00013
|
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln)
|
rs149064715
|
0.00013
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=)
|
rs370304175
|
0.00011
|
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)
|
rs201486858
|
0.00011
|
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His)
|
rs139264859
|
0.00011
|
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu)
|
rs142814184
|
0.00011
|
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)
|
rs374549843
|
0.00010
|
NM_000393.5(COL5A2):c.403-3T>C
|
rs369733690
|
0.00010
|
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=)
|
rs142895373
|
0.00010
|
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=)
|
rs372869641
|
0.00009
|
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys)
|
rs930378570
|
0.00009
|
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly)
|
rs200845884
|
0.00009
|
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=)
|
rs760946138
|
0.00008
|
NM_000393.5(COL5A2):c.1793G>A (p.Arg598His)
|
rs529317104
|
0.00007
|
NM_000393.5(COL5A2):c.2770-6T>C
|
rs770409954
|
0.00007
|
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn)
|
rs199802059
|
0.00007
|
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg)
|
rs758412337
|
0.00007
|
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)
|
rs527433112
|
0.00007
|
NM_000393.5(COL5A2):c.1617+9G>T
|
rs186490845
|
0.00006
|
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser)
|
rs149737825
|
0.00006
|
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu)
|
rs772448543
|
0.00006
|
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys)
|
rs199530997
|
0.00006
|
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu)
|
rs150401168
|
0.00006
|
NM_000393.5(COL5A2):c.3431A>G (p.His1144Arg)
|
rs1418496907
|
0.00006
|
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)
|
rs770554435
|
0.00006
|
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser)
|
rs779153546
|
0.00006
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
NM_000393.5(COL5A2):c.389G>A (p.Arg130His)
|
rs377331666
|
0.00006
|
NM_000393.5(COL5A2):c.4332C>T (p.Ile1444=)
|
rs138837670
|
0.00006
|
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln)
|
rs144430633
|
0.00006
|
NM_000393.5(COL5A2):c.985A>G (p.Met329Val)
|
rs140785678
|
0.00006
|
NM_000393.5(COL5A2):c.1005+10C>T
|
rs767297800
|
0.00005
|
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=)
|
rs370774253
|
0.00005
|
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val)
|
rs372220538
|
0.00005
|
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys)
|
rs754429372
|
0.00005
|
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln)
|
rs761126767
|
0.00005
|
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile)
|
rs200703515
|
0.00005
|
NM_000393.5(COL5A2):c.870T>C (p.Pro290=)
|
rs139656817
|
0.00005
|
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu)
|
rs755909523
|
0.00004
|
NM_000393.5(COL5A2):c.233A>T (p.Asp78Val)
|
rs201022138
|
0.00004
|
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser)
|
rs1388564782
|
0.00004
|
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=)
|
rs149574060
|
0.00004
|
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys)
|
rs745845130
|
0.00004
|
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=)
|
rs201460445
|
0.00004
|
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala)
|
rs148110552
|
0.00004
|
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=)
|
rs199904322
|
0.00004
|
NM_000393.5(COL5A2):c.398C>T (p.Pro133Leu)
|
rs374225489
|
0.00004
|
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His)
|
rs150931608
|
0.00004
|
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=)
|
rs142857608
|
0.00004
|
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=)
|
rs371225266
|
0.00004
|
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu)
|
rs540573303
|
0.00004
|
NM_000393.5(COL5A2):c.1006-8G>A
|
rs200405052
|
0.00003
|
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val)
|
rs886039197
|
0.00003
|
NM_000393.5(COL5A2):c.1159-7C>A
|
rs377321742
|
0.00003
|
NM_000393.5(COL5A2):c.1181C>T (p.Ala394Val)
|
rs370121305
|
0.00003
|
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu)
|
rs1051400743
|
0.00003
|
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr)
|
rs746339285
|
0.00003
|
NM_000393.5(COL5A2):c.1960G>A (p.Gly654Ser)
|
rs773726323
|
0.00003
|
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu)
|
rs189320512
|
0.00003
|
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)
|
rs267599127
|
0.00003
|
NM_000393.5(COL5A2):c.3040-9C>A
|
rs377334807
|
0.00003
|
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg)
|
rs151187317
|
0.00003
|
NM_000393.5(COL5A2):c.3391G>T (p.Gly1131Cys)
|
rs747946828
|
0.00003
|
NM_000393.5(COL5A2):c.399G>A (p.Pro133=)
|
rs369867930
|
0.00003
|
NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser)
|
rs145755198
|
0.00003
|
NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser)
|
rs1436390158
|
0.00003
|
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp)
|
rs761481937
|
0.00003
|
NM_000393.5(COL5A2):c.537G>A (p.Pro179=)
|
rs762891893
|
0.00003
|
NM_000393.5(COL5A2):c.602A>C (p.Lys201Thr)
|
rs758156613
|
0.00003
|
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr)
|
rs200839338
|
0.00002
|
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala)
|
rs779614415
|
0.00002
|
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser)
|
rs768348357
|
0.00002
|
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=)
|
rs765364009
|
0.00002
|
NM_000393.5(COL5A2):c.2254C>T (p.Pro752Ser)
|
rs372270389
|
0.00002
|
NM_000393.5(COL5A2):c.2337+27_2337+28insC
|
rs1262131748
|
0.00002
|
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser)
|
rs372904150
|
0.00002
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser)
|
rs909634945
|
0.00002
|
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn)
|
rs201186702
|
0.00002
|
NM_000393.5(COL5A2):c.323G>A (p.Gly108Asp)
|
rs954753747
|
0.00002
|
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln)
|
rs377049803
|
0.00002
|
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro)
|
rs748601646
|
0.00002
|
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro)
|
rs144890303
|
0.00002
|
NM_000393.5(COL5A2):c.3471+3A>G
|
rs929722223
|
0.00002
|
NM_000393.5(COL5A2):c.3637C>T (p.Pro1213Ser)
|
rs780899667
|
0.00002
|
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys)
|
rs755429175
|
0.00002
|
NM_000393.5(COL5A2):c.382C>T (p.Arg128Cys)
|
rs1247714244
|
0.00002
|
NM_000393.5(COL5A2):c.4114-14C>G
|
rs777751790
|
0.00002
|
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp)
|
rs760569641
|
0.00002
|
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln)
|
rs761072017
|
0.00001
|
NM_000393.5(COL5A2):c.1159-10A>G
|
rs767892138
|
0.00001
|
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val)
|
rs1391129049
|
0.00001
|
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=)
|
rs376170776
|
0.00001
|
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe)
|
rs778385867
|
0.00001
|
NM_000393.5(COL5A2):c.1458G>A (p.Gly486=)
|
rs144540534
|
0.00001
|
NM_000393.5(COL5A2):c.1492G>A (p.Gly498Ser)
|
rs780495441
|
0.00001
|
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys)
|
rs863223490
|
0.00001
|
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)
|
rs1443765130
|
0.00001
|
NM_000393.5(COL5A2):c.1618-8C>T
|
rs746841809
|
0.00001
|
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser)
|
rs369506320
|
0.00001
|
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)
|
rs730880066
|
0.00001
|
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg)
|
rs863223503
|
0.00001
|
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln)
|
rs760408439
|
0.00001
|
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser)
|
rs544303636
|
0.00001
|
NM_000393.5(COL5A2):c.1766C>T (p.Pro589Leu)
|
rs863223505
|
0.00001
|
NM_000393.5(COL5A2):c.1892A>G (p.Glu631Gly)
|
rs918877773
|
0.00001
|
NM_000393.5(COL5A2):c.1928C>T (p.Ala643Val)
|
rs767643591
|
0.00001
|
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu)
|
rs746458284
|
0.00001
|
NM_000393.5(COL5A2):c.1995A>G (p.Arg665=)
|
rs140541824
|
0.00001
|
NM_000393.5(COL5A2):c.1A>G (p.Met1Val)
|
rs563606558
|
0.00001
|
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr)
|
rs904166744
|
0.00001
|
NM_000393.5(COL5A2):c.2020A>G (p.Thr674Ala)
|
rs1686034098
|
0.00001
|
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr)
|
rs765785677
|
0.00001
|
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg)
|
rs772811492
|
0.00001
|
NM_000393.5(COL5A2):c.2156G>A (p.Arg719Lys)
|
rs760537680
|
0.00001
|
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr)
|
rs372812220
|
0.00001
|
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=)
|
rs138457003
|
0.00001
|
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln)
|
rs1458760818
|
0.00001
|
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu)
|
rs575864379
|
0.00001
|
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=)
|
rs200019093
|
0.00001
|
NM_000393.5(COL5A2):c.2553+30A>G
|
rs1350030532
|
0.00001
|
NM_000393.5(COL5A2):c.2554-5T>C
|
rs373495598
|
0.00001
|
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg)
|
rs1064795616
|
0.00001
|
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr)
|
rs760858324
|
0.00001
|
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr)
|
rs773515722
|
0.00001
|
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=)
|
rs773825862
|
0.00001
|
NM_000393.5(COL5A2):c.2808G>T (p.Gly936=)
|
rs141089340
|
0.00001
|
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His)
|
rs761988412
|
0.00001
|
NM_000393.5(COL5A2):c.2839C>A (p.Pro947Thr)
|
rs1027615025
|
0.00001
|
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=)
|
rs372780282
|
0.00001
|
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp)
|
rs759604513
|
0.00001
|
NM_000393.5(COL5A2):c.2943C>T (p.Gly981=)
|
rs771950850
|
0.00001
|
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg)
|
rs1040238147
|
0.00001
|
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr)
|
rs1354785209
|
0.00001
|
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val)
|
rs763462242
|
0.00001
|
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser)
|
rs187336363
|
0.00001
|
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala)
|
rs768663426
|
0.00001
|
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=)
|
rs746246121
|
0.00001
|
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys)
|
rs539362640
|
0.00001
|
NM_000393.5(COL5A2):c.3200G>A (p.Arg1067His)
|
rs780705330
|
0.00001
|
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser)
|
rs761543775
|
0.00001
|
NM_000393.5(COL5A2):c.3317G>A (p.Arg1106Gln)
|
rs369725456
|
0.00001
|
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys)
|
rs1386081744
|
0.00001
|
NM_000393.5(COL5A2):c.3529C>T (p.Pro1177Ser)
|
rs367939836
|
0.00001
|
NM_000393.5(COL5A2):c.353C>G (p.Pro118Arg)
|
rs1224192066
|
0.00001
|
NM_000393.5(COL5A2):c.3583C>G (p.Pro1195Ala)
|
rs863223496
|
0.00001
|
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu)
|
rs1056466895
|
0.00001
|
NM_000393.5(COL5A2):c.3650C>G (p.Pro1217Arg)
|
rs863223509
|
0.00001
|
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser)
|
rs199621926
|
0.00001
|
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg)
|
rs773321546
|
0.00001
|
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val)
|
rs1064795177
|
0.00001
|
NM_000393.5(COL5A2):c.3823C>T (p.Leu1275Phe)
|
rs570175207
|
0.00001
|
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)
|
rs752658223
|
0.00001
|
NM_000393.5(COL5A2):c.3856G>A (p.Asp1286Asn)
|
rs1194645204
|
0.00001
|
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys)
|
rs754170105
|
0.00001
|
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr)
|
rs372897632
|
0.00001
|
NM_000393.5(COL5A2):c.4076C>T (p.Pro1359Leu)
|
rs745580343
|
0.00001
|
NM_000393.5(COL5A2):c.4090C>A (p.Leu1364Ile)
|
rs777866283
|
0.00001
|
NM_000393.5(COL5A2):c.4144A>G (p.Thr1382Ala)
|
rs370026245
|
0.00001
|
NM_000393.5(COL5A2):c.4238A>G (p.Asp1413Gly)
|
rs1685415466
|
0.00001
|
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr)
|
rs754240060
|
0.00001
|
NM_000393.5(COL5A2):c.4369G>A (p.Val1457Met)
|
rs745935107
|
0.00001
|
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=)
|
rs531204336
|
0.00001
|
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala)
|
rs1218677057
|
0.00001
|
NM_000393.5(COL5A2):c.548G>C (p.Gly183Ala)
|
rs1686805632
|
0.00001
|
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr)
|
rs762874073
|
0.00001
|
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu)
|
rs1335028282
|
0.00001
|
NM_000393.5(COL5A2):c.712C>T (p.Pro238Ser)
|
rs763287143
|
0.00001
|
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys)
|
rs779241228
|
0.00001
|
NM_000393.5(COL5A2):c.961-10T>G
|
rs770126461
|
0.00001
|
GRCh37/hg19 2q32.2(chr2:190032724-190040435)x1
|
|
|
NM_000393.5(COL5A2):c.-37del
|
rs922043222
|
|
NM_000393.5(COL5A2):c.1056T>G (p.Ala352=)
|
rs863223488
|
|
NM_000393.5(COL5A2):c.1059+120del
|
rs5837122
|
|
NM_000393.5(COL5A2):c.1081A>G (p.Met361Val)
|
rs76148000
|
|
NM_000393.5(COL5A2):c.10A>C (p.Asn4His)
|
rs1426460695
|
|
NM_000393.5(COL5A2):c.1102A>G (p.Met368Val)
|
|
|
NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp)
|
rs886042913
|
|
NM_000393.5(COL5A2):c.1167_1181del (p.Gly390_Ala394del)
|
|
|
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile)
|
rs1553515880
|
|
NM_000393.5(COL5A2):c.1184G>A (p.Arg395Gln)
|
rs766119748
|
|
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser)
|
rs1042644306
|
|
NM_000393.5(COL5A2):c.1238T>C (p.Val413Ala)
|
rs1430271322
|
|
NM_000393.5(COL5A2):c.1257+5G>C
|
rs1553515867
|
|
NM_000393.5(COL5A2):c.1258-91T>G
|
rs184264860
|
|
NM_000393.5(COL5A2):c.1339G>C (p.Gly447Arg)
|
|
|
NM_000393.5(COL5A2):c.1340G>A (p.Gly447Glu)
|
rs2105603621
|
|
NM_000393.5(COL5A2):c.1373C>G (p.Thr458Ser)
|
rs863223489
|
|
NM_000393.5(COL5A2):c.1397A>C (p.Gln466Pro)
|
rs1021216183
|
|
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=)
|
rs1553515794
|
|
NM_000393.5(COL5A2):c.1455+6G>A
|
rs113512079
|
|
NM_000393.5(COL5A2):c.1455+6G>T
|
rs113512079
|
|
NM_000393.5(COL5A2):c.1475G>A (p.Gly492Asp)
|
rs2105599619
|
|
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=)
|
rs570269920
|
|
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=)
|
rs570269920
|
|
NM_000393.5(COL5A2):c.1580G>A (p.Arg527His)
|
rs1260469713
|
|
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys)
|
rs863223500
|
|
NM_000393.5(COL5A2):c.1634G>A (p.Arg545Gln)
|
|
|
NM_000393.5(COL5A2):c.1651T>C (p.Ser551Pro)
|
rs2105594391
|
|
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg)
|
rs149203102
|
|
NM_000393.5(COL5A2):c.1691G>A (p.Gly564Glu)
|
rs2105594273
|
|
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser)
|
rs372910621
|
|
NM_000393.5(COL5A2):c.1716+5G>A
|
rs863223504
|
|
NM_000393.5(COL5A2):c.1717-241_1717-240insACTTT
|
rs150346155
|
|
NM_000393.5(COL5A2):c.1831C>G (p.Pro611Ala)
|
rs1438423994
|
|
NM_000393.5(COL5A2):c.1853G>A (p.Gly618Asp)
|
rs751229175
|
|
NM_000393.5(COL5A2):c.1924-3T>A
|
rs794727471
|
|
NM_000393.5(COL5A2):c.2031+49dup
|
rs369656754
|
|
NM_000393.5(COL5A2):c.2031+58T>A
|
|
|
NM_000393.5(COL5A2):c.2031+59del
|
rs369656754
|
|
NM_000393.5(COL5A2):c.2031+68del
|
rs111688859
|
|
NM_000393.5(COL5A2):c.2032-57T>C
|
rs13416565
|
|
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=)
|
rs1553515128
|
|
NM_000393.5(COL5A2):c.2072A>C (p.Lys691Thr)
|
rs142224646
|
|
NM_000393.5(COL5A2):c.2072A>G (p.Lys691Arg)
|
rs142224646
|
|
NM_000393.5(COL5A2):c.2075C>G (p.Pro692Arg)
|
rs863223492
|
|
NM_000393.5(COL5A2):c.2086-23dup
|
rs5837121
|
|
NM_000393.5(COL5A2):c.2104G>C (p.Gly702Arg)
|
|
|
NM_000393.5(COL5A2):c.2194G>A (p.Gly732Arg)
|
rs1553514917
|
|
NM_000393.5(COL5A2):c.2264C>G (p.Thr755Arg)
|
rs2105575372
|
|
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu)
|
rs150260969
|
|
NM_000393.5(COL5A2):c.2297A>G (p.Glu766Gly)
|
rs2105575251
|
|
NM_000393.5(COL5A2):c.2337+29del
|
rs34715449
|
|
NM_000393.5(COL5A2):c.2337+9dup
|
rs34715449
|
|
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser)
|
rs781215270
|
|
NM_000393.5(COL5A2):c.2381A>T (p.Asp794Val)
|
rs2105574022
|
|
NM_000393.5(COL5A2):c.2391+5G>A
|
rs1553514799
|
|
NM_000393.5(COL5A2):c.2392-228A>C
|
rs114497915
|
|
NM_000393.5(COL5A2):c.2471T>A (p.Val824Asp)
|
|
|
NM_000393.5(COL5A2):c.2494A>C (p.Asn832His)
|
rs1576496167
|
|
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro)
|
rs751683516
|
|
NM_000393.5(COL5A2):c.250G>C (p.Asp84His)
|
rs745528957
|
|
NM_000393.5(COL5A2):c.2522C>T (p.Pro841Leu)
|
rs2105565020
|
|
NM_000393.5(COL5A2):c.2549C>T (p.Pro850Leu)
|
rs863223493
|
|
NM_000393.5(COL5A2):c.2553+5A>T
|
rs371072906
|
|
NM_000393.5(COL5A2):c.2557C>A (p.Pro853Thr)
|
rs863223506
|
|
NM_000393.5(COL5A2):c.2570C>T (p.Pro857Leu)
|
rs938162476
|
|
NM_000393.5(COL5A2):c.2614G>A (p.Ala872Thr)
|
|
|
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu)
|
rs886039694
|
|
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser)
|
rs760858324
|
|
NM_000393.5(COL5A2):c.2647T>A (p.Ser883Thr)
|
|
|
NM_000393.5(COL5A2):c.2715+4A>G
|
rs1553514423
|
|
NM_000393.5(COL5A2):c.2762G>C (p.Gly921Ala)
|
rs150206569
|
|
NM_000393.5(COL5A2):c.2764C>G (p.Pro922Ala)
|
rs1349278394
|
|
NM_000393.5(COL5A2):c.2770-166_2770-162del
|
rs144410979
|
|
NM_000393.5(COL5A2):c.2770-6T>A
|
|
|
NM_000393.5(COL5A2):c.2854C>A (p.Arg952Ser)
|
rs199530997
|
|
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)
|
rs6434313
|
|
NM_000393.5(COL5A2):c.2908G>A (p.Asp970Asn)
|
rs2105558665
|
|
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser)
|
rs1576494351
|
|
NM_000393.5(COL5A2):c.292C>T (p.Gln98Ter)
|
rs2105711947
|
|
NM_000393.5(COL5A2):c.2970G>A (p.Gly990=)
|
rs933589600
|
|
NM_000393.5(COL5A2):c.2993C>T (p.Pro998Leu)
|
rs863223494
|
|
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys)
|
rs863223507
|
|
NM_000393.5(COL5A2):c.3002G>C (p.Arg1001Pro)
|
|
|
NM_000393.5(COL5A2):c.3039+282_3039+288del
|
rs11277110
|
|
NM_000393.5(COL5A2):c.305G>A (p.Gly102Asp)
|
|
|
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
|
|
|
NM_000393.5(COL5A2):c.3109C>T (p.Pro1037Ser)
|
rs1576493048
|
|
NM_000393.5(COL5A2):c.3116C>G (p.Ser1039Cys)
|
rs1367927256
|
|
NM_000393.5(COL5A2):c.3128T>G (p.Val1043Gly)
|
rs2153507890
|
|
NM_000393.5(COL5A2):c.3147+243A>C
|
rs13383366
|
|
NM_000393.5(COL5A2):c.3147+295dup
|
rs397811419
|
|
NM_000393.5(COL5A2):c.3147+298dup
|
rs5837119
|
|
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val)
|
rs778501601
|
|
NM_000393.5(COL5A2):c.3202G>A (p.Gly1068Ser)
|
rs1332988061
|
|
NM_000393.5(COL5A2):c.3226G>C (p.Ala1076Pro)
|
rs2153507378
|
|
NM_000393.5(COL5A2):c.329G>A (p.Gly110Glu)
|
rs863223501
|
|
NM_000393.5(COL5A2):c.3307C>A (p.Pro1103Thr)
|
rs1685654238
|
|
NM_000393.5(COL5A2):c.3309+5G>A
|
rs2153507363
|
|
NM_000393.5(COL5A2):c.3310-132CA[11]
|
rs111268949
|
|
NM_000393.5(COL5A2):c.3310-132CA[13]
|
rs111268949
|
|
NM_000393.5(COL5A2):c.3331C>T (p.Pro1111Ser)
|
rs1685640502
|
|
NM_000393.5(COL5A2):c.3341G>T (p.Arg1114Leu)
|
|
|
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=)
|
rs1553513577
|
|
NM_000393.5(COL5A2):c.336+181del
|
rs147860045
|
|
NM_000393.5(COL5A2):c.337-152C>G
|
rs55905390
|
|
NM_000393.5(COL5A2):c.337-212dup
|
rs143135434
|
|
NM_000393.5(COL5A2):c.3382G>T (p.Gly1128Cys)
|
|
|
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser)
|
rs747946828
|
|
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln)
|
rs562950263
|
|
NM_000393.5(COL5A2):c.3443C>T (p.Thr1148Ile)
|
rs762080305
|
|
NM_000393.5(COL5A2):c.3447T>C (p.Gly1149=)
|
rs1576488965
|
|
NM_000393.5(COL5A2):c.3472-11T>G
|
|
|
NM_000393.5(COL5A2):c.3490G>T (p.Gly1164Ter)
|
|
|
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu)
|
rs863223508
|
|
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe)
|
rs768807471
|
|
NM_000393.5(COL5A2):c.3506C>A (p.Pro1169His)
|
rs2153506953
|
|
NM_000393.5(COL5A2):c.3524G>A (p.Arg1175Lys)
|
|
|
NM_000393.5(COL5A2):c.3525+207G>A
|
rs10195023
|
|
NM_000393.5(COL5A2):c.3544G>T (p.Gly1182Cys)
|
rs1057524163
|
|
NM_000393.5(COL5A2):c.3645_3662del (p.Glu1216_Gly1221del)
|
rs1553512960
|
|
NM_000393.5(COL5A2):c.3649C>T (p.Pro1217Ser)
|
|
|
NM_000393.5(COL5A2):c.3662G>A (p.Gly1221Asp)
|
rs1064796676
|
|
NM_000393.5(COL5A2):c.3691G>A (p.Ala1231Thr)
|
|
|
NM_000393.5(COL5A2):c.3709A>G (p.Met1237Val)
|
rs1685513453
|
|
NM_000393.5(COL5A2):c.3713G>A (p.Gly1238Glu)
|
rs2153506528
|
|
NM_000393.5(COL5A2):c.3721G>A (p.Asp1241Asn)
|
rs1576486531
|
|
NM_000393.5(COL5A2):c.3731T>A (p.Met1244Lys)
|
rs145100971
|
|
NM_000393.5(COL5A2):c.3732G>A (p.Met1244Ile)
|
rs780628821
|
|
NM_000393.5(COL5A2):c.3755C>T (p.Thr1252Ile)
|
|
|
NM_000393.5(COL5A2):c.3823C>G (p.Leu1275Val)
|
|
|
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val)
|
rs772344964
|
|
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp)
|
rs863223497
|
|
NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys)
|
rs771310130
|
|
NM_000393.5(COL5A2):c.403-143T>C
|
rs72906358
|
|
NM_000393.5(COL5A2):c.4068C>A (p.Asp1356Glu)
|
rs771590535
|
|
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu)
|
rs863223502
|
|
NM_000393.5(COL5A2):c.4087G>A (p.Gly1363Ser)
|
rs2153506139
|
|
NM_000393.5(COL5A2):c.4106G>A (p.Gly1369Glu)
|
rs759631023
|
|
NM_000393.5(COL5A2):c.4113+90del
|
rs142224900
|
|
NM_000393.5(COL5A2):c.4133A>G (p.Gln1378Arg)
|
rs863223498
|
|
NM_000393.5(COL5A2):c.4152T>C (p.Ile1384=)
|
rs1685417610
|
|
NM_000393.5(COL5A2):c.4172G>T (p.Arg1391Leu)
|
|
|
NM_000393.5(COL5A2):c.4235T>C (p.Met1412Thr)
|
rs1037904709
|
|
NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly)
|
|
|
NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly)
|
rs141777954
|
|
NM_000393.5(COL5A2):c.4303G>A (p.Ala1435Thr)
|
rs2153505971
|
|
NM_000393.5(COL5A2):c.4332C>G (p.Ile1444Met)
|
rs138837670
|
|
NM_000393.5(COL5A2):c.4343A>G (p.Asp1448Gly)
|
rs1275257471
|
|
NM_000393.5(COL5A2):c.4368T>C (p.Asn1456=)
|
rs1576482924
|
|
NM_000393.5(COL5A2):c.4374C>T (p.Gly1458=)
|
rs1553512315
|
|
NM_000393.5(COL5A2):c.4417C>T (p.Pro1473Ser)
|
|
|
NM_000393.5(COL5A2):c.4422C>G (p.Ile1474Met)
|
|
|
NM_000393.5(COL5A2):c.4438G>C (p.Val1480Leu)
|
rs863223499
|
|
NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser)
|
rs775322653
|
|
NM_000393.5(COL5A2):c.552C>T (p.Pro184=)
|
rs548352939
|
|
NM_000393.5(COL5A2):c.568-166_568-163del
|
rs75422763
|
|
NM_000393.5(COL5A2):c.568-276_568-272dup
|
rs141172366
|
|
NM_000393.5(COL5A2):c.624_644del (p.Leu210_Gly216del)
|
|
|
NM_000393.5(COL5A2):c.638G>C (p.Gly213Ala)
|
rs753789459
|
|
NM_000393.5(COL5A2):c.645+116CATT[6]
|
rs5837124
|
|
NM_000393.5(COL5A2):c.682G>A (p.Gly228Arg)
|
rs2105652981
|
|
NM_000393.5(COL5A2):c.691G>A (p.Gly231Ser)
|
rs1396123186
|
|
NM_000393.5(COL5A2):c.698C>T (p.Ala233Val)
|
rs863223487
|
|
NM_000393.5(COL5A2):c.744+9C>T
|
rs1576516888
|
|
NM_000393.5(COL5A2):c.745-4T>C
|
rs781426004
|
|
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu)
|
rs556805686
|
|
NM_000393.5(COL5A2):c.785A>C (p.Lys262Thr)
|
rs1064795517
|
|
NM_000393.5(COL5A2):c.852+250G>A
|
rs10166867
|
|
NM_000393.5(COL5A2):c.852+309del
|
rs376308674
|
|
NM_000393.5(COL5A2):c.861T>G (p.Arg287=)
|
rs1559094497
|
|
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val)
|
rs1211991688
|
|
NM_000393.5(COL5A2):c.905G>A (p.Arg302Gln)
|
rs545574407
|
|
NM_000393.5(COL5A2):c.929C>T (p.Pro310Leu)
|
|
|
NM_000393.5(COL5A2):c.982C>T (p.Pro328Ser)
|
|
|
NM_000393.5(COL5A2):c.986T>C (p.Met329Thr)
|
|
|