NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile)
|
rs143020337
|
0.00011
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys)
|
rs779033931
|
0.00001
|
NM_033380.3(COL4A5):c.1033-3A>G
|
rs2066339277
|
|
NM_033380.3(COL4A5):c.1147G>C (p.Gly383Arg)
|
rs1569492161
|
|
NM_033380.3(COL4A5):c.1166-1G>A
|
rs1569492951
|
|
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp)
|
rs104886101
|
|
NM_033380.3(COL4A5):c.1295G>A (p.Gly432Glu)
|
rs2066428351
|
|
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg)
|
rs281874670
|
|
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)
|
rs754223700
|
|
NM_033380.3(COL4A5):c.1532del (p.Pro511fs)
|
rs2066528020
|
|
NM_033380.3(COL4A5):c.1584_1587+6del
|
|
|
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp)
|
rs281874673
|
|
NM_033380.3(COL4A5):c.1763_1779+3del
|
rs2066542728
|
|
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser)
|
rs1603290681
|
|
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu)
|
rs1569494378
|
|
NM_033380.3(COL4A5):c.2042-2A>C
|
rs2066636714
|
|
NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu)
|
rs2066640120
|
|
NM_033380.3(COL4A5):c.2201del (p.Gly734fs)
|
rs2066663117
|
|
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg)
|
rs104886184
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)
|
rs104886199
|
|
NM_033380.3(COL4A5):c.2678G>C (p.Gly893Ala)
|
rs397515496
|
|
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser)
|
rs1556420349
|
|
NM_033380.3(COL4A5):c.276+2dup
|
rs2065934135
|
|
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)
|
rs104886210
|
|
NM_033380.3(COL4A5):c.3310G>C (p.Gly1104Arg)
|
rs1569504072
|
|
NM_033380.3(COL4A5):c.3374-1G>A
|
rs2068058963
|
|
NM_033380.3(COL4A5):c.3553G>C (p.Gly1185Arg)
|
rs1353480777
|
|
NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter)
|
rs1381117009
|
|
NM_033380.3(COL4A5):c.3632G>A (p.Gly1211Glu)
|
rs104886247
|
|
NM_033380.3(COL4A5):c.3703G>T (p.Gly1235Cys)
|
rs2147959392
|
|
NM_033380.3(COL4A5):c.3773G>T (p.Gly1258Val)
|
|
|
NM_033380.3(COL4A5):c.3883C>T (p.Gln1295Ter)
|
rs2068330799
|
|
NM_033380.3(COL4A5):c.3898G>A (p.Gly1300Ser)
|
rs2147975020
|
|
NM_033380.3(COL4A5):c.3942+2T>C
|
rs2068333361
|
|
NM_033380.3(COL4A5):c.4291_4297delinsCT (p.Asp1431fs)
|
rs2068539903
|
|
NM_033380.3(COL4A5):c.434C>T (p.Pro145Leu)
|
rs2066063898
|
|
NM_033380.3(COL4A5):c.4352G>A (p.Gly1451Glu)
|
|
|
NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs)
|
rs2068571470
|
|
NM_033380.3(COL4A5):c.438+1_438+3dup
|
rs2066064057
|
|
NM_033380.3(COL4A5):c.4455_4465del (p.Thr1486fs)
|
|
|
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter)
|
rs104886286
|
|
NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His)
|
rs281874747
|
|
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter)
|
rs104886299
|
|
NM_033380.3(COL4A5):c.4938C>G (p.Tyr1646Ter)
|
rs2068717619
|
|
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)
|
rs104886303
|
|
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)
|
rs281874753
|
|
NM_033380.3(COL4A5):c.5074T>A (p.Ter1692Lys)
|
rs2068734296
|
|
NM_033380.3(COL4A5):c.687+1G>A
|
rs104886440
|
|
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val)
|
rs281874763
|
|
NM_033380.3(COL4A5):c.757delinsCT (p.Val253fs)
|
rs2066189282
|
|
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)
|
rs104886071
|
|
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)
|
rs104886079
|
|
NM_033380.3(COL4A5):c.936+2T>C
|
rs2147777495
|
|