NM_033380.3(COL4A5):c.1075G>T (p.Gly359Ter)
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rs1569492122
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NM_033380.3(COL4A5):c.1198G>T (p.Gly400Ter)
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rs2066424636
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NM_033380.3(COL4A5):c.1378G>T (p.Gly460Ter)
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rs2066435557
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NM_033380.3(COL4A5):c.1395del (p.Gly466fs)
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NM_033380.3(COL4A5):c.1482_1483del (p.Gln495fs)
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NM_033380.3(COL4A5):c.1748T>A (p.Leu583Ter)
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NM_033380.3(COL4A5):c.182T>A (p.Leu61Ter)
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rs2065868148
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NM_033380.3(COL4A5):c.216del (p.Pro73fs)
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NM_033380.3(COL4A5):c.2180_2183del (p.Pro727fs)
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NM_033380.3(COL4A5):c.2202_2204delinsA (p.Leu735fs)
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NM_033380.3(COL4A5):c.2322del (p.Gly775fs)
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NM_033380.3(COL4A5):c.2392A>T (p.Lys798Ter)
|
rs1298839151
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NM_033380.3(COL4A5):c.2422G>T (p.Gly808Ter)
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rs2066899099
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NM_033380.3(COL4A5):c.2576del (p.Pro859fs)
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NM_033380.3(COL4A5):c.2604del (p.Gly869fs)
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rs1556419850
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NM_033380.3(COL4A5):c.2637_2638del (p.Pro880fs)
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NM_033380.3(COL4A5):c.2653A>T (p.Lys885Ter)
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rs2067017511
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NM_033380.3(COL4A5):c.2668G>T (p.Gly890Ter)
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NM_033380.3(COL4A5):c.2683A>T (p.Lys895Ter)
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NM_033380.3(COL4A5):c.2693_2697del (p.Met898fs)
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NM_033380.3(COL4A5):c.272_275delinsCTTTTAAT (p.Ile91fs)
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NM_033380.3(COL4A5):c.2764A>T (p.Lys922Ter)
|
rs2067060145
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NM_033380.3(COL4A5):c.2910_2912delinsA (p.Leu971fs)
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NM_033380.3(COL4A5):c.2926G>T (p.Gly976Ter)
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rs2067108651
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NM_033380.3(COL4A5):c.2949T>A (p.Tyr983Ter)
|
rs2067109223
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NM_033380.3(COL4A5):c.2957T>A (p.Leu986Ter)
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rs2067109423
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NM_033380.3(COL4A5):c.295_296del (p.Gly99fs)
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NM_033380.3(COL4A5):c.2992C>T (p.Gln998Ter)
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rs756070988
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NM_033380.3(COL4A5):c.3002T>A (p.Leu1001Ter)
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NM_033380.3(COL4A5):c.3043G>T (p.Gly1015Ter)
|
rs2067140465
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NM_033380.3(COL4A5):c.3151G>T (p.Gly1051Ter)
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rs2067151807
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NM_033380.3(COL4A5):c.3179del (p.Gly1060fs)
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NM_033380.3(COL4A5):c.3244A>T (p.Lys1082Ter)
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rs2067154422
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|
NM_033380.3(COL4A5):c.3270C>A (p.Tyr1090Ter)
|
rs2067818573
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|
NM_033380.3(COL4A5):c.3371del (p.Pro1124fs)
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|
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NM_033380.3(COL4A5):c.3460G>T (p.Gly1154Ter)
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NM_033380.3(COL4A5):c.3488del (p.Pro1163fs)
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NM_033380.3(COL4A5):c.3535G>T (p.Gly1179Ter)
|
rs104886240
|
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NM_033380.3(COL4A5):c.3619G>T (p.Gly1207Ter)
|
rs2068126785
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|
NM_033380.3(COL4A5):c.367G>T (p.Gly123Ter)
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NM_033380.3(COL4A5):c.3782_3783del (p.Gly1261fs)
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NM_033380.3(COL4A5):c.3784A>T (p.Arg1262Ter)
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NM_033380.3(COL4A5):c.3784del (p.Arg1262fs)
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|
NM_033380.3(COL4A5):c.3955dup (p.Arg1319fs)
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|
|
NM_033380.3(COL4A5):c.4021A>T (p.Lys1341Ter)
|
rs2068413590
|
|
NM_033380.3(COL4A5):c.4057G>T (p.Glu1353Ter)
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|
|
NM_033380.3(COL4A5):c.40_41del (p.Leu14fs)
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|
NM_033380.3(COL4A5):c.4211T>A (p.Leu1404Ter)
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|
|
NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter)
|
rs143778018
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|
NM_033380.3(COL4A5):c.4313del (p.Pro1438fs)
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|
|
NM_033380.3(COL4A5):c.4378_4379insA (p.Gly1460fs)
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|
|
NM_033380.3(COL4A5):c.439G>T (p.Gly147Ter)
|
rs2066069145
|
|
NM_033380.3(COL4A5):c.4410del (p.Thr1471fs)
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|
|
NM_033380.3(COL4A5):c.4504A>T (p.Lys1502Ter)
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|
NM_033380.3(COL4A5):c.4507del (p.Arg1503fs)
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|
NM_033380.3(COL4A5):c.4609_4610del (p.Ser1537fs)
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NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter)
|
rs104886293
|
|
NM_033380.3(COL4A5):c.469G>T (p.Glu157Ter)
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|
|
NM_033380.3(COL4A5):c.4752_4753delinsA (p.Ser1584fs)
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|
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NM_033380.3(COL4A5):c.4762C>T (p.Gln1588Ter)
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NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter)
|
|
|
NM_033380.3(COL4A5):c.494C>G (p.Ser165Ter)
|
rs2066099798
|
|
NM_033380.3(COL4A5):c.515del (p.Asn172fs)
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|
|
NM_033380.3(COL4A5):c.67_68del (p.Pro23fs)
|
|
|
NM_033380.3(COL4A5):c.681_682del (p.Glu228fs)
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|
|
NM_033380.3(COL4A5):c.694C>T (p.Gln232Ter)
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|
NM_033380.3(COL4A5):c.703C>T (p.Gln235Ter)
|
|
|
NM_033380.3(COL4A5):c.710del (p.Pro237fs)
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|
|
NM_033380.3(COL4A5):c.745A>T (p.Arg249Ter)
|
rs2066188778
|
|
NM_033380.3(COL4A5):c.948_949del (p.Asp317fs)
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