NC_000009.11:g.(?_137534024)_(137620663_?)del
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|
|
NC_000009.11:g.(?_137534034)_(137582945_?)del
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NC_000009.11:g.(?_137582748)_(137677904_?)del
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NC_000009.11:g.(?_137591735)_(137593199_?)del
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NC_000009.11:g.(?_137593011)_(137727056_?)del
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NC_000009.11:g.(?_137619102)_(137698152_?)dup
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NC_000009.11:g.(?_137645560)_137650136del
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NC_000009.11:g.(?_137664616)_(137734149_?)del
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NC_000009.11:g.(?_137709604)_(137717770_?)del
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NC_000009.11:g.(?_137733983)_(137734149_?)del
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NC_000009.12:g.(?_134642178)_(134701343_?)del
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NC_000009.12:g.(?_134690892)_(134763757_?)del
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NC_000009.12:g.(?_134690902)_(134727407_?)del
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NC_000009.12:g.(?_134699889)_(134700142_?)del
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NC_000009.12:g.(?_134752569)_(134752665_?)del
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NC_000009.12:g.(?_134782657)_(134842313_?)del
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NC_000009.12:g.134765683del
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NM_000093.4(COL5A1):c.2389delG
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rs1564453833
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NM_000093.4(COL5A1):c.2594dup
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rs1837444858
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NM_000093.4(COL5A1):c.3746delG
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rs35002351
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NM_000093.4(COL5A1):c.4232delG
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rs1060502259
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NM_000093.5(COL5A1):c.105del (p.Ala36fs)
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rs2132455125
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|
NM_000093.5(COL5A1):c.1075G>T (p.Glu359Ter)
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rs769752636
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NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs)
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rs1834837756
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NM_000093.5(COL5A1):c.109G>C (p.Ala37Pro)
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rs2132455136
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|
NM_000093.5(COL5A1):c.1114_1115del (p.Ala372fs)
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NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs)
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rs1834879370
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NM_000093.5(COL5A1):c.1364del (p.Lys455fs)
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rs1564418237
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NM_000093.5(COL5A1):c.1503del (p.Gly502fs)
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rs1554792011
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NM_000093.5(COL5A1):c.1611dup (p.Met538fs)
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NM_000093.5(COL5A1):c.1628_1630dup (p.Ser544Ter)
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rs2132683271
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NM_000093.5(COL5A1):c.1630del (p.Ser544fs)
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rs2132683277
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|
NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter)
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rs201625736
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NM_000093.5(COL5A1):c.1654C>T (p.Gln552Ter)
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NM_000093.5(COL5A1):c.1720-136_1929del
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NM_000093.5(COL5A1):c.1727del (p.Pro576fs)
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rs1488498065
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NM_000093.5(COL5A1):c.1728del (p.Ser578fs)
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rs2132689832
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NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter)
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rs1554792869
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NM_000093.5(COL5A1):c.1789C>T (p.Gln597Ter)
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rs2132690786
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NM_000093.5(COL5A1):c.1937_1946del
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rs2132717812
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NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
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rs1833258579
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|
NM_000093.5(COL5A1):c.1989+1G>C
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rs1836462685
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|
NM_000093.5(COL5A1):c.1A>G (p.Met1Val)
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rs2132454722
|
|
NM_000093.5(COL5A1):c.2034+1G>A
|
rs886042173
|
|
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter)
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rs1554796176
|
|
NM_000093.5(COL5A1):c.2143G>T (p.Gly715Ter)
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rs1060502258
|
|
NM_000093.5(COL5A1):c.2159del (p.Pro720fs)
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rs863223469
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|
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs)
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rs863223469
|
|
NM_000093.5(COL5A1):c.2164C>T (p.Gln722Ter)
|
rs1564446117
|
|
NM_000093.5(COL5A1):c.2177del (p.Pro726fs)
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|
|
NM_000093.5(COL5A1):c.225_226del (p.Tyr75_Arg76delinsTer)
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|
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NM_000093.5(COL5A1):c.228_229del (p.Arg76fs)
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rs1060502242
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NM_000093.5(COL5A1):c.2312delinsTGGCAAAGA (p.Pro771fs)
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|
|
NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter)
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rs121912933
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NM_000093.5(COL5A1):c.2386-3C>G
|
rs1564453831
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|
NM_000093.5(COL5A1):c.2425G>T (p.Glu809Ter)
|
rs1032017865
|
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NM_000093.5(COL5A1):c.2430+1G>A
|
rs1060502248
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|
NM_000093.5(COL5A1):c.2430+1G>C
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|
NM_000093.5(COL5A1):c.2553del (p.Asn852fs)
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rs1837406273
|
|
NM_000093.5(COL5A1):c.2565del (p.Gly856fs)
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rs1564457102
|
|
NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter)
|
rs1833261804
|
|
NM_000093.5(COL5A1):c.2660del (p.Phe887fs)
|
rs1588551159
|
|
NM_000093.5(COL5A1):c.2701-25T>G
|
rs765079080
|
|
NM_000093.5(COL5A1):c.2730dup (p.Gln911fs)
|
rs2132802457
|
|
NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter)
|
rs863223478
|
|
NM_000093.5(COL5A1):c.2897del (p.Pro966fs)
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rs1179967153
|
|
NM_000093.5(COL5A1):c.2918dup (p.Leu974fs)
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|
|
NM_000093.5(COL5A1):c.2925_2926dup (p.Gly976fs)
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|
NM_000093.5(COL5A1):c.2952+1G>C
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NM_000093.5(COL5A1):c.2952+2_2952+3del
|
rs1588562135
|
|
NM_000093.5(COL5A1):c.297_304dup (p.Ile102fs)
|
rs1588448655
|
|
NM_000093.5(COL5A1):c.2988del (p.Gly997fs)
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rs764693725
|
|
NM_000093.5(COL5A1):c.2988dup (p.Gly997fs)
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rs764693725
|
|
NM_000093.5(COL5A1):c.2T>G (p.Met1Arg)
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|
|
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs)
|
rs863223473
|
|
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter)
|
rs387906606
|
|
NM_000093.5(COL5A1):c.321del (p.Ala108fs)
|
rs2132569651
|
|
NM_000093.5(COL5A1):c.3272del (p.Glu1091fs)
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|
|
NM_000093.5(COL5A1):c.3297del (p.Ile1101fs)
|
rs1838291478
|
|
NM_000093.5(COL5A1):c.3309_3325dup (p.Pro1109fs)
|
rs1564471440
|
|
NM_000093.5(COL5A1):c.3317_3333del (p.Arg1106fs)
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|
|
NM_000093.5(COL5A1):c.337C>T (p.Gln113Ter)
|
rs2132569692
|
|
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter)
|
rs886042045
|
|
NM_000093.5(COL5A1):c.3443dup (p.Val1149fs)
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|
|
NM_000093.5(COL5A1):c.3455dup (p.Gly1153fs)
|
rs2132838808
|
|
NM_000093.5(COL5A1):c.3514dup (p.Asp1172fs)
|
rs2132841152
|
|
NM_000093.5(COL5A1):c.3553C>T (p.Gln1185Ter)
|
|
|
NM_000093.5(COL5A1):c.3566del (p.Gly1189fs)
|
|
|
NM_000093.5(COL5A1):c.3613C>T (p.Gln1205Ter)
|
rs2132844990
|
|
NM_000093.5(COL5A1):c.3631C>T (p.Gln1211Ter)
|
rs1307084213
|
|
NM_000093.5(COL5A1):c.3671dup (p.Gly1225fs)
|
rs2132845192
|
|
NM_000093.5(COL5A1):c.3684del (p.Leu1229fs)
|
rs1564475090
|
|
NM_000093.5(COL5A1):c.3752del (p.Pro1251fs)
|
rs786205100
|
|
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)
|
rs786205100
|
|
NM_000093.5(COL5A1):c.3769C>T (p.Arg1257Ter)
|
rs748870349
|
|
NM_000093.5(COL5A1):c.3772G>T (p.Gly1258Ter)
|
|
|
NM_000093.5(COL5A1):c.3788del (p.Pro1263fs)
|
|
|
NM_000093.5(COL5A1):c.3805C>T (p.Gln1269Ter)
|
rs1554805142
|
|
NM_000093.5(COL5A1):c.3833_3846del (p.Pro1278fs)
|
rs2132848313
|
|
NM_000093.5(COL5A1):c.3G>T (p.Met1Ile)
|
|
|
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
|
rs758337699
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
NM_000093.5(COL5A1):c.4088del (p.Gly1363fs)
|
rs2132856138
|
|
NM_000093.5(COL5A1):c.4114G>A (p.Gly1372Arg)
|
rs1838729952
|
|
NM_000093.5(COL5A1):c.4126dup (p.Ser1376fs)
|
rs1131691820
|
|
NM_000093.5(COL5A1):c.4203del (p.Gly1402fs)
|
rs1060502255
|
|
NM_000093.5(COL5A1):c.4214del (p.Gly1405fs)
|
|
|
NM_000093.5(COL5A1):c.4266_4285del (p.Ile1425fs)
|
|
|
NM_000093.5(COL5A1):c.4282del (p.Gln1428fs)
|
rs2132864123
|
|
NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter)
|
rs2132864295
|
|
NM_000093.5(COL5A1):c.4370del (p.Pro1457fs)
|
|
|
NM_000093.5(COL5A1):c.4383dup (p.Gly1462fs)
|
rs2132864817
|
|
NM_000093.5(COL5A1):c.4385del (p.Gly1462fs)
|
rs2132864836
|
|
NM_000093.5(COL5A1):c.4389del (p.Met1464fs)
|
rs2132864849
|
|
NM_000093.5(COL5A1):c.4415_4416insTTTG (p.Lys1473fs)
|
|
|
NM_000093.5(COL5A1):c.456C>A (p.Tyr152Ter)
|
|
|
NM_000093.5(COL5A1):c.494G>A (p.Trp165Ter)
|
rs1588449879
|
|
NM_000093.5(COL5A1):c.495G>A (p.Trp165Ter)
|
|
|
NM_000093.5(COL5A1):c.643G>T (p.Glu215Ter)
|
rs2132573338
|
|
NM_000093.5(COL5A1):c.708C>A (p.Tyr236Ter)
|
|
|
NM_000093.5(COL5A1):c.74T>G (p.Leu25Arg)
|
rs1831316527
|
|
NM_000093.5(COL5A1):c.761C>A (p.Ser254Ter)
|
rs144844792
|
|
NM_000093.5(COL5A1):c.786+1G>A
|
|
|
NM_000093.5(COL5A1):c.786+5G>A
|
rs2132632978
|
|
NM_000093.5(COL5A1):c.849del (p.Glu284fs)
|
rs1588477255
|
|
NM_000093.5(COL5A1):c.865G>T (p.Glu289Ter)
|
|
|
NM_000093.5(COL5A1):c.876dup (p.Ser293fs)
|
rs1834751333
|
|
NM_000093.5(COL5A1):c.904G>T (p.Glu302Ter)
|
rs1554787811
|
|
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs)
|
rs1554803622
|
|