NM_001845.6(COL4A1):c.2458+2T>C
|
rs1436175370
|
0.00001
|
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)
|
rs1877827904
|
0.00001
|
NC_000013.10:g.(?_110839465)_(110855974_?)del
|
|
|
NC_000013.11:g.110212480del
|
|
|
NM_001845.6(COL4A1):c.*32G>T
|
rs1876439052
|
|
NM_001845.6(COL4A1):c.-31_74del (p.Met1_Ala25del)
|
|
|
NM_001845.6(COL4A1):c.1493G>A (p.Gly498Asp)
|
rs113994104
|
|
NM_001845.6(COL4A1):c.1502G>A (p.Gly501Asp)
|
rs2139179173
|
|
NM_001845.6(COL4A1):c.1509del (p.Gly504fs)
|
rs1594566006
|
|
NM_001845.6(COL4A1):c.1536del (p.Gly513fs)
|
|
|
NM_001845.6(COL4A1):c.1611dup (p.Arg538fs)
|
rs2139174027
|
|
NM_001845.6(COL4A1):c.1627A>T (p.Lys543Ter)
|
|
|
NM_001845.6(COL4A1):c.1630G>A (p.Gly544Arg)
|
rs1131691834
|
|
NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser)
|
rs1064794777
|
|
NM_001845.6(COL4A1):c.1870G>T (p.Gly624Ter)
|
rs1188823925
|
|
NM_001845.6(COL4A1):c.1889G>A (p.Gly630Asp)
|
rs2139173182
|
|
NM_001845.6(COL4A1):c.1890_1897+77del
|
rs2139173063
|
|
NM_001845.6(COL4A1):c.1943del (p.Pro648fs)
|
|
|
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)
|
rs1878248687
|
|
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)
|
rs587780588
|
|
NM_001845.6(COL4A1):c.2119_2120del (p.Met707fs)
|
|
|
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser)
|
rs113994109
|
|
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)
|
rs672601346
|
|
NM_001845.6(COL4A1):c.2291G>A (p.Gly764Asp)
|
rs1566353677
|
|
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)
|
rs672601347
|
|
NM_001845.6(COL4A1):c.2345-2A>G
|
|
|
NM_001845.6(COL4A1):c.2411del (p.Pro804fs)
|
rs2139165126
|
|
NM_001845.6(COL4A1):c.2414G>A (p.Gly805Glu)
|
rs868858094
|
|
NM_001845.6(COL4A1):c.2458+1G>A
|
rs1878012979
|
|
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)
|
rs797044867
|
|
NM_001845.6(COL4A1):c.2655del (p.Thr886fs)
|
rs2139163985
|
|
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg)
|
rs797045034
|
|
NM_001845.6(COL4A1):c.2672G>A (p.Gly891Asp)
|
rs886041965
|
|
NM_001845.6(COL4A1):c.2681G>A (p.Gly894Glu)
|
|
|
NM_001845.6(COL4A1):c.2689G>C (p.Gly897Arg)
|
|
|
NM_001845.6(COL4A1):c.2690G>T (p.Gly897Val)
|
|
|
NM_001845.6(COL4A1):c.2696_2697insCGGCCTCACCAGGACCAGTGGGTGCTCC (p.Pro902fs)
|
|
|
NM_001845.6(COL4A1):c.2771G>A (p.Gly924Asp)
|
rs2139163087
|
|
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser)
|
rs2139163058
|
|
NM_001845.6(COL4A1):c.2870G>A (p.Gly957Glu)
|
rs2139162781
|
|
NM_001845.6(COL4A1):c.2902C>T (p.Arg968Ter)
|
rs1877904298
|
|
NM_001845.6(COL4A1):c.2923G>C (p.Gly975Arg)
|
|
|
NM_001845.6(COL4A1):c.2930del (p.Pro977fs)
|
rs2139162697
|
|
NM_001845.6(COL4A1):c.3041G>A (p.Gly1014Asp)
|
|
|
NM_001845.6(COL4A1):c.3158G>T (p.Gly1053Val)
|
|
|
NM_001845.6(COL4A1):c.3199G>A (p.Gly1067Arg)
|
|
|
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg)
|
rs1057523325
|
|
NM_001845.6(COL4A1):c.324+1G>A
|
rs1085307816
|
|
NM_001845.6(COL4A1):c.3300del (p.Ser1101fs)
|
|
|
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg)
|
rs1877796698
|
|
NM_001845.6(COL4A1):c.3406G>T (p.Gly1136Cys)
|
|
|
NM_001845.6(COL4A1):c.3556+1G>T
|
rs1555302645
|
|
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg)
|
rs2139156247
|
|
NM_001845.6(COL4A1):c.3620G>A (p.Gly1207Glu)
|
rs2139156207
|
|
NM_001845.6(COL4A1):c.3655G>T (p.Gly1219Ter)
|
rs2139156141
|
|
NM_001845.6(COL4A1):c.3707G>T (p.Gly1236Val)
|
|
|
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg)
|
rs1085307709
|
|
NM_001845.6(COL4A1):c.3734G>A (p.Gly1245Asp)
|
|
|
NM_001845.6(COL4A1):c.3742G>A (p.Gly1248Arg)
|
|
|
NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg)
|
rs1085307614
|
|
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg)
|
rs587777379
|
|
NM_001845.6(COL4A1):c.3977G>T (p.Gly1326Val)
|
rs886041714
|
|
NM_001845.6(COL4A1):c.4150+1G>A
|
rs2139149159
|
|
NM_001845.6(COL4A1):c.4408G>A (p.Gly1470Arg)
|
rs2139146124
|
|
NM_001845.6(COL4A1):c.4408G>C (p.Gly1470Arg)
|
|
|
NM_001845.6(COL4A1):c.452G>A (p.Gly151Asp)
|
rs2139204356
|
|
NM_001845.6(COL4A1):c.4738G>A (p.Gly1580Ser)
|
rs113994114
|
|
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser)
|
rs878853070
|
|
NM_001845.6(COL4A1):c.665T>G (p.Leu222Ter)
|
|
|
NM_001845.6(COL4A1):c.686del (p.Gly229fs)
|
|
|
NM_001845.6(COL4A1):c.897del (p.Ser300fs)
|
|
|