NM_033380.3(COL4A5):c.2768-10T>C
|
rs370284884
|
0.00038
|
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His)
|
rs201123438
|
0.00037
|
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg)
|
rs142929745
|
0.00027
|
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe)
|
rs767087695
|
0.00021
|
NM_033380.3(COL4A5):c.880C>T (p.Pro294Ser)
|
rs374201703
|
0.00015
|
NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr)
|
rs201220208
|
0.00014
|
NM_033380.3(COL4A5):c.858T>C (p.Gly286=)
|
rs183837448
|
0.00014
|
NM_033380.3(COL4A5):c.319C>T (p.Pro107Ser)
|
rs182634806
|
0.00012
|
NM_033380.3(COL4A5):c.1768A>G (p.Lys590Glu)
|
rs368137679
|
0.00008
|
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=)
|
rs369726425
|
0.00008
|
NM_033380.3(COL4A5):c.2572C>A (p.Pro858Thr)
|
rs147220200
|
0.00008
|
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)
|
rs150305490
|
0.00008
|
NM_033380.3(COL4A5):c.1813C>A (p.Pro605Thr)
|
rs781016371
|
0.00007
|
NM_033380.3(COL4A5):c.4898C>T (p.Ala1633Val)
|
rs982188184
|
0.00006
|
NM_033380.3(COL4A5):c.3728C>T (p.Pro1243Leu)
|
rs751503027
|
0.00005
|
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys)
|
rs746184634
|
0.00005
|
NM_033380.3(COL4A5):c.271A>G (p.Ile91Val)
|
rs919113147
|
0.00004
|
NM_033380.3(COL4A5):c.3955C>T (p.Arg1319Trp)
|
rs138903372
|
0.00004
|
NM_033380.3(COL4A5):c.781-253A>G
|
rs1227389872
|
0.00004
|
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly)
|
rs104886071
|
0.00004
|
NM_033380.3(COL4A5):c.2080A>G (p.Ile694Val)
|
rs141392937
|
0.00003
|
NM_033380.3(COL4A5):c.2882G>T (p.Gly961Val)
|
rs768478427
|
0.00003
|
NM_033380.3(COL4A5):c.829C>T (p.Pro277Ser)
|
rs755102850
|
0.00003
|
NM_033380.3(COL4A5):c.2295A>G (p.Pro765=)
|
rs141247183
|
0.00002
|
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys)
|
rs771538814
|
0.00002
|
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr)
|
rs991159149
|
0.00002
|
NM_033380.3(COL4A5):c.164T>G (p.Leu55Trp)
|
rs779142914
|
0.00001
|
NM_033380.3(COL4A5):c.2206G>C (p.Glu736Gln)
|
rs1603292436
|
0.00001
|
NM_033380.3(COL4A5):c.2290C>T (p.Leu764Phe)
|
rs2066735216
|
0.00001
|
NM_033380.3(COL4A5):c.2509+16A>G
|
rs1365839951
|
0.00001
|
NM_033380.3(COL4A5):c.2516A>G (p.His839Arg)
|
rs1272041306
|
0.00001
|
NM_033380.3(COL4A5):c.2539G>A (p.Asp847Asn)
|
rs1244012104
|
0.00001
|
NM_033380.3(COL4A5):c.3095T>C (p.Met1032Thr)
|
rs754487739
|
0.00001
|
NM_033380.3(COL4A5):c.3141T>C (p.Ser1047=)
|
rs1350852221
|
0.00001
|
NM_033380.3(COL4A5):c.3878C>T (p.Pro1293Leu)
|
rs1397121500
|
0.00001
|
NM_033380.3(COL4A5):c.4693C>G (p.Pro1565Ala)
|
rs104886295
|
0.00001
|
NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala)
|
rs747041833
|
0.00001
|
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys)
|
rs865842167
|
0.00001
|
NM_033380.3(COL4A5):c.4937A>G (p.Tyr1646Cys)
|
rs937985430
|
0.00001
|
GRCh37/hg19 Xq22.3(chrX:107778107-107900493)x3
|
|
|
NC_000023.10:g.(?_107819140)_(107819202_?)del
|
|
|
NC_000023.10:g.(?_107930692)_(107930944_?)dup
|
|
|
NC_000023.11:g.(?_108575910)_(108597568_?)dup
|
|
|
NM_033380.3(COL4A5):c.-25_-8dup
|
rs752443408
|
|
NM_033380.3(COL4A5):c.1022_1030del (p.338PPG[1])
|
rs2147784405
|
|
NM_033380.3(COL4A5):c.1032+5G>T
|
rs104886315
|
|
NM_033380.3(COL4A5):c.1033-3A>G
|
rs2066339277
|
|
NM_033380.3(COL4A5):c.1033-6A>G
|
rs869025330
|
|
NM_033380.3(COL4A5):c.1063A>G (p.Ile355Val)
|
|
|
NM_033380.3(COL4A5):c.1069G>A (p.Glu357Lys)
|
rs1186225656
|
|
NM_033380.3(COL4A5):c.1099C>T (p.Pro367Ser)
|
|
|
NM_033380.3(COL4A5):c.113G>T (p.Cys38Phe)
|
|
|
NM_033380.3(COL4A5):c.1164A>T (p.Pro388=)
|
|
|
NM_033380.3(COL4A5):c.1183C>T (p.Pro395Ser)
|
rs2147796628
|
|
NM_033380.3(COL4A5):c.1184C>T (p.Pro395Leu)
|
|
|
NM_033380.3(COL4A5):c.1249_1272dup (p.Ser417_Leu424dup)
|
rs2066426356
|
|
NM_033380.3(COL4A5):c.1289C>T (p.Ala430Val)
|
rs142883891
|
|
NM_033380.3(COL4A5):c.1339+3A>C
|
|
|
NM_033380.3(COL4A5):c.1367C>T (p.Pro456Leu)
|
|
|
NM_033380.3(COL4A5):c.136G>A (p.Glu46Lys)
|
|
|
NM_033380.3(COL4A5):c.141G>T (p.Lys47Asn)
|
|
|
NM_033380.3(COL4A5):c.1424-3T>G
|
|
|
NM_033380.3(COL4A5):c.1432G>T (p.Gly478Cys)
|
rs764743086
|
|
NM_033380.3(COL4A5):c.146A>G (p.Glu49Gly)
|
rs1569486475
|
|
NM_033380.3(COL4A5):c.147G>T (p.Glu49Asp)
|
rs2147722129
|
|
NM_033380.3(COL4A5):c.1502T>G (p.Leu501Arg)
|
|
|
NM_033380.3(COL4A5):c.1517-18T>A
|
|
|
NM_033380.3(COL4A5):c.1517-9G>A
|
|
|
NM_033380.3(COL4A5):c.1520C>A (p.Ser507Tyr)
|
rs1114167369
|
|
NM_033380.3(COL4A5):c.1585C>T (p.Pro529Ser)
|
|
|
NM_033380.3(COL4A5):c.1587+5G>A
|
rs2147809251
|
|
NM_033380.3(COL4A5):c.1588-10C>G
|
rs1603290097
|
|
NM_033380.3(COL4A5):c.1612C>T (p.Pro538Ser)
|
rs2147810008
|
|
NM_033380.3(COL4A5):c.1660C>G (p.Pro554Ala)
|
rs2147810221
|
|
NM_033380.3(COL4A5):c.1679A>G (p.Lys560Arg)
|
|
|
NM_033380.3(COL4A5):c.1766C>T (p.Pro589Leu)
|
rs2066542878
|
|
NM_033380.3(COL4A5):c.1774G>C (p.Glu592Gln)
|
|
|
NM_033380.3(COL4A5):c.1811C>T (p.Pro604Leu)
|
|
|
NM_033380.3(COL4A5):c.1855C>T (p.Pro619Ser)
|
rs1569494314
|
|
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val)
|
rs104886143
|
|
NM_033380.3(COL4A5):c.1890A>G (p.Pro630=)
|
rs2147813686
|
|
NM_033380.3(COL4A5):c.1919C>T (p.Ala640Val)
|
rs2066572993
|
|
NM_033380.3(COL4A5):c.1933C>A (p.Gln645Lys)
|
rs1603290796
|
|
NM_033380.3(COL4A5):c.1948+4A>C
|
rs1311897513
|
|
NM_033380.3(COL4A5):c.1948+5G>A
|
|
|
NM_033380.3(COL4A5):c.1972A>G (p.Thr658Ala)
|
|
|
NM_033380.3(COL4A5):c.1986_2003dup (p.Lys664_Gly669dup)
|
rs2147819355
|
|
NM_033380.3(COL4A5):c.2002C>T (p.Pro668Ser)
|
rs2147819433
|
|
NM_033380.3(COL4A5):c.2003C>T (p.Pro668Leu)
|
|
|
NM_033380.3(COL4A5):c.2011C>A (p.Pro671Thr)
|
|
|
NM_033380.3(COL4A5):c.2019A>T (p.Arg673Ser)
|
rs1569494902
|
|
NM_033380.3(COL4A5):c.2030_2032dup (p.Val677_Gly678insVal)
|
|
|
NM_033380.3(COL4A5):c.2066C>T (p.Pro689Leu)
|
|
|
NM_033380.3(COL4A5):c.2105G>T (p.Gly702Val)
|
|
|
NM_033380.3(COL4A5):c.212C>T (p.Pro71Leu)
|
rs2065868609
|
|
NM_033380.3(COL4A5):c.2135C>G (p.Pro712Arg)
|
|
|
NM_033380.3(COL4A5):c.2145A>G (p.Lys715=)
|
rs1569495067
|
|
NM_033380.3(COL4A5):c.2168C>T (p.Pro723Leu)
|
|
|
NM_033380.3(COL4A5):c.2204T>G (p.Leu735Arg)
|
|
|
NM_033380.3(COL4A5):c.2217_2218delinsCT (p.Gly740Trp)
|
|
|
NM_033380.3(COL4A5):c.221G>T (p.Arg74Leu)
|
rs137930367
|
|
NM_033380.3(COL4A5):c.2245-12T>A
|
|
|
NM_033380.3(COL4A5):c.2259T>A (p.Phe753Leu)
|
rs2147831970
|
|
NM_033380.3(COL4A5):c.2308G>C (p.Ala770Pro)
|
rs2066736056
|
|
NM_033380.3(COL4A5):c.2311C>G (p.Leu771Val)
|
|
|
NM_033380.3(COL4A5):c.2330G>C (p.Arg777Pro)
|
rs200371339
|
|
NM_033380.3(COL4A5):c.2365A>T (p.Thr789Ser)
|
|
|
NM_033380.3(COL4A5):c.2394A>T (p.Lys798Asn)
|
rs281874691
|
|
NM_033380.3(COL4A5):c.2430G>T (p.Met810Ile)
|
|
|
NM_033380.3(COL4A5):c.2434C>T (p.Pro812Ser)
|
|
|
NM_033380.3(COL4A5):c.2441G>A (p.Gly814Glu)
|
rs2066899797
|
|
NM_033380.3(COL4A5):c.2509+5G>C
|
rs1556418297
|
|
NM_033380.3(COL4A5):c.2524C>T (p.Pro842Ser)
|
|
|
NM_033380.3(COL4A5):c.2548C>T (p.Pro850Ser)
|
|
|
NM_033380.3(COL4A5):c.2666C>G (p.Ser889Cys)
|
|
|
NM_033380.3(COL4A5):c.2678-13A>G
|
|
|
NM_033380.3(COL4A5):c.276+4_276+7del
|
rs2147734917
|
|
NM_033380.3(COL4A5):c.2767+4A>G
|
|
|
NM_033380.3(COL4A5):c.2807C>G (p.Pro936Arg)
|
|
|
NM_033380.3(COL4A5):c.2905C>T (p.Pro969Ser)
|
|
|
NM_033380.3(COL4A5):c.2984T>C (p.Leu995Pro)
|
|
|
NM_033380.3(COL4A5):c.3041C>G (p.Pro1014Arg)
|
|
|
NM_033380.3(COL4A5):c.3085A>T (p.Ile1029Phe)
|
rs2147872284
|
|
NM_033380.3(COL4A5):c.3116G>A (p.Gly1039Asp)
|
rs1556421658
|
|
NM_033380.3(COL4A5):c.3208A>G (p.Ile1070Val)
|
|
|
NM_033380.3(COL4A5):c.3241C>G (p.Pro1081Ala)
|
|
|
NM_033380.3(COL4A5):c.3246+3A>C
|
rs2147873531
|
|
NM_033380.3(COL4A5):c.3247-11C>A
|
|
|
NM_033380.3(COL4A5):c.32_33delinsTT (p.Gly11Val)
|
|
|
NM_033380.3(COL4A5):c.3424C>T (p.Pro1142Ser)
|
|
|
NM_033380.3(COL4A5):c.344C>T (p.Ala115Val)
|
|
|
NM_033380.3(COL4A5):c.3454+3A>C
|
|
|
NM_033380.3(COL4A5):c.3457G>C (p.Gly1153Arg)
|
|
|
NM_033380.3(COL4A5):c.3479C>G (p.Pro1160Arg)
|
|
|
NM_033380.3(COL4A5):c.3488C>T (p.Pro1163Leu)
|
|
|
NM_033380.3(COL4A5):c.3496A>G (p.Lys1166Glu)
|
rs1064794446
|
|
NM_033380.3(COL4A5):c.3527G>A (p.Gly1176Glu)
|
rs886042570
|
|
NM_033380.3(COL4A5):c.3530C>G (p.Pro1177Arg)
|
rs759897999
|
|
NM_033380.3(COL4A5):c.3547G>A (p.Glu1183Lys)
|
|
|
NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp)
|
|
|
NM_033380.3(COL4A5):c.3604+3A>T
|
rs1569505614
|
|
NM_033380.3(COL4A5):c.3604+7_3604+27delinsATGCTAAATCAATCTATAATAA
|
|
|
NM_033380.3(COL4A5):c.3617A>G (p.Asp1206Gly)
|
rs2147959019
|
|
NM_033380.3(COL4A5):c.364C>G (p.Pro122Ala)
|
|
|
NM_033380.3(COL4A5):c.3652C>T (p.Leu1218Phe)
|
|
|
NM_033380.3(COL4A5):c.3656C>T (p.Pro1219Leu)
|
|
|
NM_033380.3(COL4A5):c.3680T>C (p.Phe1227Ser)
|
|
|
NM_033380.3(COL4A5):c.3706C>G (p.Pro1236Ala)
|
|
|
NM_033380.3(COL4A5):c.3742G>A (p.Glu1248Lys)
|
|
|
NM_033380.3(COL4A5):c.3785G>A (p.Arg1262Lys)
|
|
|
NM_033380.3(COL4A5):c.3787C>T (p.Pro1263Ser)
|
rs1012489715
|
|
NM_033380.3(COL4A5):c.384G>C (p.Lys128Asn)
|
rs1569488434
|
|
NM_033380.3(COL4A5):c.385-11A>G
|
|
|
NM_033380.3(COL4A5):c.3905C>T (p.Pro1302Leu)
|
|
|
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=)
|
rs281874724
|
|
NM_033380.3(COL4A5):c.3954C>T (p.Gly1318=)
|
|
|
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val)
|
rs762726134
|
|
NM_033380.3(COL4A5):c.3967A>G (p.Asn1323Asp)
|
|
|
NM_033380.3(COL4A5):c.3968A>G (p.Asn1323Ser)
|
|
|
NM_033380.3(COL4A5):c.4048G>T (p.Ala1350Ser)
|
|
|
NM_033380.3(COL4A5):c.4086A>T (p.Pro1362=)
|
|
|
NM_033380.3(COL4A5):c.4088-3T>C
|
|
|
NM_033380.3(COL4A5):c.4088-3T>G
|
rs748750912
|
|
NM_033380.3(COL4A5):c.4094C>T (p.Pro1365Leu)
|
|
|
NM_033380.3(COL4A5):c.4124_4132dup (p.Ile1377_Lys1378insIleIleIle)
|
|
|
NM_033380.3(COL4A5):c.4155_4157del (p.Ile1386del)
|
rs1569507545
|
|
NM_033380.3(COL4A5):c.4228C>T (p.Pro1410Ser)
|
|
|
NM_033380.3(COL4A5):c.4232C>T (p.Pro1411Leu)
|
rs2147989213
|
|
NM_033380.3(COL4A5):c.4258C>G (p.Pro1420Ala)
|
|
|
NM_033380.3(COL4A5):c.4282C>A (p.Arg1428Ser)
|
rs144282156
|
|
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
|
rs144282156
|
|
NM_033380.3(COL4A5):c.4284C>T (p.Arg1428=)
|
|
|
NM_033380.3(COL4A5):c.4303C>T (p.Pro1435Ser)
|
|
|
NM_033380.3(COL4A5):c.4316-11C>A
|
rs369725471
|
|
NM_033380.3(COL4A5):c.4364C>T (p.Pro1455Leu)
|
|
|
NM_033380.3(COL4A5):c.4372C>T (p.Pro1458Ser)
|
|
|
NM_033380.3(COL4A5):c.438+5G>A
|
rs281874739
|
|
NM_033380.3(COL4A5):c.439-7A>G
|
rs2147754958
|
|
NM_033380.3(COL4A5):c.4393G>A (p.Ala1465Thr)
|
rs2147991378
|
|
NM_033380.3(COL4A5):c.4405C>T (p.Leu1469Phe)
|
|
|
NM_033380.3(COL4A5):c.4415_4416delinsCT (p.Arg1472Pro)
|
rs2147991408
|
|
NM_033380.3(COL4A5):c.4454G>A (p.Gly1485Glu)
|
|
|
NM_033380.3(COL4A5):c.4469A>T (p.Tyr1490Phe)
|
|
|
NM_033380.3(COL4A5):c.4508G>C (p.Arg1503Thr)
|
rs2147991674
|
|
NM_033380.3(COL4A5):c.4529-345A>G
|
rs1569508899
|
|
NM_033380.3(COL4A5):c.4544G>A (p.Cys1515Tyr)
|
rs2068656815
|
|
NM_033380.3(COL4A5):c.4568C>G (p.Pro1523Arg)
|
rs1603326447
|
|
NM_033380.3(COL4A5):c.4570T>G (p.Phe1524Val)
|
rs2147998401
|
|
NM_033380.3(COL4A5):c.4575G>C (p.Met1525Ile)
|
rs2147998421
|
|
NM_033380.3(COL4A5):c.4579T>A (p.Cys1527Ser)
|
|
|
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile)
|
rs2066069939
|
|
NM_033380.3(COL4A5):c.4632G>C (p.Trp1544Cys)
|
rs104886294
|
|
NM_033380.3(COL4A5):c.4632G>T (p.Trp1544Cys)
|
|
|
NM_033380.3(COL4A5):c.465+2_465+3dup
|
rs1569488954
|
|
NM_033380.3(COL4A5):c.466-13T>A
|
rs1569489302
|
|
NM_033380.3(COL4A5):c.4670C>T (p.Pro1557Leu)
|
|
|
NM_033380.3(COL4A5):c.4679G>A (p.Gly1560Asp)
|
rs2147998721
|
|
NM_033380.3(COL4A5):c.467G>A (p.Gly156Asp)
|
|
|
NM_033380.3(COL4A5):c.467G>T (p.Gly156Val)
|
rs2066099190
|
|
NM_033380.3(COL4A5):c.4706+5G>T
|
|
|
NM_033380.3(COL4A5):c.4706+6G>A
|
|
|
NM_033380.3(COL4A5):c.4707-30_4707-11del
|
rs2148001404
|
|
NM_033380.3(COL4A5):c.4747C>G (p.His1583Asp)
|
|
|
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp)
|
rs2147759208
|
|
NM_033380.3(COL4A5):c.4789G>A (p.Asp1597Asn)
|
rs2148001674
|
|
NM_033380.3(COL4A5):c.4822-10T>C
|
|
|
NM_033380.3(COL4A5):c.4822-10del
|
|
|
NM_033380.3(COL4A5):c.4856C>T (p.Ala1619Val)
|
|
|
NM_033380.3(COL4A5):c.4876T>A (p.Cys1626Ser)
|
rs2068715609
|
|
NM_033380.3(COL4A5):c.4877G>A (p.Cys1626Tyr)
|
|
|
NM_033380.3(COL4A5):c.4915C>T (p.His1639Tyr)
|
|
|
NM_033380.3(COL4A5):c.4918G>A (p.Gly1640Arg)
|
|
|
NM_033380.3(COL4A5):c.4940A>G (p.Tyr1647Cys)
|
rs2148002477
|
|
NM_033380.3(COL4A5):c.4946A>G (p.Asn1649Ser)
|
|
|
NM_033380.3(COL4A5):c.4952A>G (p.Tyr1651Cys)
|
rs2068717823
|
|
NM_033380.3(COL4A5):c.4960T>C (p.Trp1654Arg)
|
rs1569509354
|
|
NM_033380.3(COL4A5):c.4972G>A (p.Val1658Ile)
|
rs2068718130
|
|
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu)
|
rs2068718130
|
|
NM_033380.3(COL4A5):c.4975G>T (p.Asp1659Tyr)
|
|
|
NM_033380.3(COL4A5):c.4994+3A>G
|
rs1569509373
|
|
NM_033380.3(COL4A5):c.4994+5A>G
|
|
|
NM_033380.3(COL4A5):c.4994+6G>C
|
|
|
NM_033380.3(COL4A5):c.5029T>G (p.Leu1677Val)
|
rs2148003708
|
|
NM_033380.3(COL4A5):c.5054A>C (p.Gln1685Pro)
|
rs1569509492
|
|
NM_033380.3(COL4A5):c.532C>T (p.Pro178Ser)
|
|
|
NM_033380.3(COL4A5):c.546+4A>G
|
|
|
NM_033380.3(COL4A5):c.546+4del
|
rs2066101600
|
|
NM_033380.3(COL4A5):c.546+6T>A
|
rs2147759554
|
|
NM_033380.3(COL4A5):c.547-11C>G
|
rs1287996085
|
|
NM_033380.3(COL4A5):c.572_583del (p.Pro191_Gly195delinsArg)
|
rs1569489843
|
|
NM_033380.3(COL4A5):c.58T>C (p.Trp20Arg)
|
|
|
NM_033380.3(COL4A5):c.609G>T (p.Met203Ile)
|
rs2147765366
|
|
NM_033380.3(COL4A5):c.639A>G (p.Gly213=)
|
rs2147770243
|
|
NM_033380.3(COL4A5):c.646-6C>G
|
rs200151467
|
|
NM_033380.3(COL4A5):c.646G>A (p.Gly216Arg)
|
rs104886067
|
|
NM_033380.3(COL4A5):c.655G>A (p.Gly219Ser)
|
rs104886075
|
|
NM_033380.3(COL4A5):c.670G>A (p.Gly224Arg)
|
rs2147770608
|
|
NM_033380.3(COL4A5):c.687+5G>A
|
rs1556405930
|
|
NM_033380.3(COL4A5):c.709C>T (p.Pro237Ser)
|
rs2147771258
|
|
NM_033380.3(COL4A5):c.718C>T (p.Pro240Ser)
|
|
|
NM_033380.3(COL4A5):c.768G>C (p.Gln256His)
|
rs2147771484
|
|
NM_033380.3(COL4A5):c.779A>C (p.Gln260Pro)
|
|
|
NM_033380.3(COL4A5):c.781-8C>G
|
|
|
NM_033380.3(COL4A5):c.812C>G (p.Pro271Arg)
|
rs2147776169
|
|
NM_033380.3(COL4A5):c.81G>A (p.Ala27=)
|
rs1569469478
|
|
NM_033380.3(COL4A5):c.82G>A (p.Ala28Thr)
|
rs869025333
|
|
NM_033380.3(COL4A5):c.834+13A>G
|
|
|
NM_033380.3(COL4A5):c.856G>T (p.Gly286Cys)
|
|
|
NM_033380.3(COL4A5):c.872A>C (p.Gln291Pro)
|
|
|
NM_033380.3(COL4A5):c.891+5G>A
|
rs2147776814
|
|
NM_033380.3(COL4A5):c.891+9T>G
|
rs779787322
|
|
NM_033380.3(COL4A5):c.926C>G (p.Pro309Arg)
|
|
|
NM_033380.3(COL4A5):c.936+9C>G
|
rs2066238622
|
|
NM_033380.3(COL4A5):c.937-10T>A
|
|
|
NM_033380.3(COL4A5):c.991-14A>G
|
rs2147784234
|
|