NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
|
rs782293513
|
0.00001
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
0.00001
|
NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)
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NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)
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NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)
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NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)
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NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)
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NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)
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NM_000052.7(ATP7A):c.1077del (p.Ser360fs)
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NM_000052.7(ATP7A):c.1139_1142delinsGAA (p.Val380fs)
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NM_000052.7(ATP7A):c.1172del (p.Cys391fs)
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NM_000052.7(ATP7A):c.1257_1267del (p.Glu420fs)
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NM_000052.7(ATP7A):c.1296_1297del (p.Gly433fs)
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NM_000052.7(ATP7A):c.140dup (p.Asn47fs)
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NM_000052.7(ATP7A):c.1415_1416insATACA (p.Lys473fs)
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NM_000052.7(ATP7A):c.1419_1420insCTCT (p.Gly474fs)
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NM_000052.7(ATP7A):c.1424_1425del (p.Met475fs)
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NM_000052.7(ATP7A):c.1439_1443del (p.Asp480fs)
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NM_000052.7(ATP7A):c.1465_1466del (p.Lys489fs)
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NM_000052.7(ATP7A):c.1537dup (p.Glu513fs)
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NM_000052.7(ATP7A):c.1599_1603delinsGAGA (p.Asn533fs)
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NM_000052.7(ATP7A):c.1605del (p.Val536fs)
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NM_000052.7(ATP7A):c.1608_1611del (p.Ile537fs)
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NM_000052.7(ATP7A):c.1614_1615delinsCAT (p.Gln538fs)
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NM_000052.7(ATP7A):c.1697del (p.Leu566fs)
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NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)
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NM_000052.7(ATP7A):c.1875_1876del (p.Gly626fs)
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NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs)
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NM_000052.7(ATP7A):c.1924del (p.Asp642fs)
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NM_000052.7(ATP7A):c.2045_2046del (p.His682fs)
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NM_000052.7(ATP7A):c.2051del (p.Asn684fs)
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NM_000052.7(ATP7A):c.2086_2087del (p.His696fs)
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NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter)
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NM_000052.7(ATP7A):c.2164_2167del (p.Pro722fs)
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NM_000052.7(ATP7A):c.2207del (p.Tyr736fs)
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NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter)
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NM_000052.7(ATP7A):c.2261_2262del (p.Thr754fs)
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NM_000052.7(ATP7A):c.2334dup (p.Thr779fs)
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NM_000052.7(ATP7A):c.256_262del (p.Asp86fs)
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NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter)
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NM_000052.7(ATP7A):c.2953del (p.Ile985fs)
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NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter)
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NM_000052.7(ATP7A):c.3081del (p.Gly1028fs)
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NM_000052.7(ATP7A):c.319_320insACTGTCTCTTA (p.Leu107fs)
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NM_000052.7(ATP7A):c.3209_3210del (p.His1070fs)
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NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter)
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NM_000052.7(ATP7A):c.338_339del (p.Val113fs)
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NM_000052.7(ATP7A):c.348del (p.Ile118fs)
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NM_000052.7(ATP7A):c.3499_3500delinsA (p.Ala1167fs)
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NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter)
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NM_000052.7(ATP7A):c.3515_3522delinsAAG (p.Ala1172fs)
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NM_000052.7(ATP7A):c.3518_3519del (p.Leu1173fs)
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NM_000052.7(ATP7A):c.360_363delinsAA (p.Gln121fs)
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NM_000052.7(ATP7A):c.3612_3613del (p.Glu1205fs)
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NM_000052.7(ATP7A):c.3667_3669delinsA (p.Cys1223fs)
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NM_000052.7(ATP7A):c.3692del (p.Thr1231fs)
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NM_000052.7(ATP7A):c.3793_3794del (p.Ala1265fs)
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NM_000052.7(ATP7A):c.380_381del (p.Val127fs)
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NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter)
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NM_000052.7(ATP7A):c.4040T>A (p.Leu1347Ter)
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NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter)
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NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter)
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NM_000052.7(ATP7A):c.420_423delinsCTGTCTCTTATACACAT (p.Lys140fs)
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NM_000052.7(ATP7A):c.469_470del (p.Ser157fs)
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NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter)
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NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter)
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NM_000052.7(ATP7A):c.706_707insTC (p.Ala236fs)
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NM_000052.7(ATP7A):c.753_755delinsA (p.Asp251fs)
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NM_000052.7(ATP7A):c.973_974del (p.Val326fs)
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NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter)
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NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter)
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NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter)
|
rs781939560
|
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NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs)
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NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs)
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NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter)
|
rs587783755
|
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NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs)
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NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs)
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NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter)
|
rs2040152185
|
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NM_000252.3(MTM1):c.1319del (p.Gln440fs)
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NM_000252.3(MTM1):c.302_303del (p.Ser101fs)
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NM_000252.3(MTM1):c.350_351del (p.Arg117fs)
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NM_000252.3(MTM1):c.388A>T (p.Arg130Ter)
|
rs2039434309
|
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NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs)
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NM_000252.3(MTM1):c.487G>T (p.Gly163Ter)
|
rs2039802744
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NM_000252.3(MTM1):c.550A>T (p.Arg184Ter)
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NM_000252.3(MTM1):c.730_731del (p.Gln244fs)
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NM_000252.3(MTM1):c.763A>T (p.Lys255Ter)
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NM_000252.3(MTM1):c.805A>T (p.Lys269Ter)
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rs2039921355
|
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NM_000252.3(MTM1):c.838A>T (p.Arg280Ter)
|
rs2039922261
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NM_000252.3(MTM1):c.925_926del (p.Leu309fs)
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NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs)
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NM_000252.3(MTM1):c.97G>T (p.Glu33Ter)
|
rs2038978870
|
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NM_000330.4(RS1):c.60_64del (p.Leu20fs)
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NM_000390.4(CHM):c.1186G>T (p.Gly396Ter)
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NM_000390.4(CHM):c.129T>A (p.Tyr43Ter)
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NM_000390.4(CHM):c.1530C>A (p.Cys510Ter)
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NM_000390.4(CHM):c.70_71insAGACAGT (p.Ala24fs)
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NM_000390.4(CHM):c.73_74insTATAAGAGACAGT (p.Ala25delinsValTer)
|
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NM_000390.4(CHM):c.82_83del (p.Ser28fs)
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NM_000390.4(CHM):c.963T>A (p.Tyr321Ter)
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NM_033380.3(COL4A5):c.1075G>T (p.Gly359Ter)
|
rs1569492122
|
|
NM_033380.3(COL4A5):c.1198G>T (p.Gly400Ter)
|
rs2066424636
|
|
NM_033380.3(COL4A5):c.1378G>T (p.Gly460Ter)
|
rs2066435557
|
|
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)
|
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
|
|
NM_033380.3(COL4A5):c.2422G>T (p.Gly808Ter)
|
rs2066899099
|
|
NM_033380.3(COL4A5):c.2576del (p.Pro859fs)
|
|
|
NM_033380.3(COL4A5):c.2604del (p.Gly869fs)
|
rs1556419850
|
|
NM_033380.3(COL4A5):c.2637_2638del (p.Pro880fs)
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|
|
NM_033380.3(COL4A5):c.2653A>T (p.Lys885Ter)
|
rs2067017511
|
|
NM_033380.3(COL4A5):c.2668G>T (p.Gly890Ter)
|
|
|
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)
|
|
|
NM_033380.3(COL4A5):c.2764A>T (p.Lys922Ter)
|
rs2067060145
|
|
NM_033380.3(COL4A5):c.2910_2912delinsA (p.Leu971fs)
|
|
|
NM_033380.3(COL4A5):c.2926G>T (p.Gly976Ter)
|
rs2067108651
|
|
NM_033380.3(COL4A5):c.2949T>A (p.Tyr983Ter)
|
rs2067109223
|
|
NM_033380.3(COL4A5):c.2957T>A (p.Leu986Ter)
|
rs2067109423
|
|
NM_033380.3(COL4A5):c.295_296del (p.Gly99fs)
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|
|
NM_033380.3(COL4A5):c.2992C>T (p.Gln998Ter)
|
rs756070988
|
|
NM_033380.3(COL4A5):c.3002T>A (p.Leu1001Ter)
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|
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NM_033380.3(COL4A5):c.3043G>T (p.Gly1015Ter)
|
rs2067140465
|
|
NM_033380.3(COL4A5):c.3151G>T (p.Gly1051Ter)
|
rs2067151807
|
|
NM_033380.3(COL4A5):c.3179del (p.Gly1060fs)
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|
|
NM_033380.3(COL4A5):c.3244A>T (p.Lys1082Ter)
|
rs2067154422
|
|
NM_033380.3(COL4A5):c.3270C>A (p.Tyr1090Ter)
|
rs2067818573
|
|
NM_033380.3(COL4A5):c.3371del (p.Pro1124fs)
|
|
|
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
|
|
NM_033380.3(COL4A5):c.3619G>T (p.Gly1207Ter)
|
rs2068126785
|
|
NM_033380.3(COL4A5):c.367G>T (p.Gly123Ter)
|
|
|
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)
|
|
|
NM_033380.3(COL4A5):c.4021A>T (p.Lys1341Ter)
|
rs2068413590
|
|
NM_033380.3(COL4A5):c.4057G>T (p.Glu1353Ter)
|
|
|
NM_033380.3(COL4A5):c.40_41del (p.Leu14fs)
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|
NM_033380.3(COL4A5):c.4211T>A (p.Leu1404Ter)
|
|
|
NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter)
|
rs143778018
|
|
NM_033380.3(COL4A5):c.4313del (p.Pro1438fs)
|
|
|
NM_033380.3(COL4A5):c.4378_4379insA (p.Gly1460fs)
|
|
|
NM_033380.3(COL4A5):c.439G>T (p.Gly147Ter)
|
rs2066069145
|
|
NM_033380.3(COL4A5):c.4410del (p.Thr1471fs)
|
|
|
NM_033380.3(COL4A5):c.4504A>T (p.Lys1502Ter)
|
|
|
NM_033380.3(COL4A5):c.4507del (p.Arg1503fs)
|
|
|
NM_033380.3(COL4A5):c.4609_4610del (p.Ser1537fs)
|
|
|
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter)
|
rs104886293
|
|
NM_033380.3(COL4A5):c.469G>T (p.Glu157Ter)
|
|
|
NM_033380.3(COL4A5):c.4752_4753delinsA (p.Ser1584fs)
|
|
|
NM_033380.3(COL4A5):c.4762C>T (p.Gln1588Ter)
|
|
|
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)
|
|
|
NM_033380.3(COL4A5):c.67_68del (p.Pro23fs)
|
|
|
NM_033380.3(COL4A5):c.681_682del (p.Glu228fs)
|
|
|
NM_033380.3(COL4A5):c.694C>T (p.Gln232Ter)
|
|
|
NM_033380.3(COL4A5):c.703C>T (p.Gln235Ter)
|
|
|
NM_033380.3(COL4A5):c.710del (p.Pro237fs)
|
|
|
NM_033380.3(COL4A5):c.745A>T (p.Arg249Ter)
|
rs2066188778
|
|
NM_033380.3(COL4A5):c.948_949del (p.Asp317fs)
|
|
|