NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg)
|
rs371172166
|
0.00006
|
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg)
|
rs201859109
|
0.00002
|
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser)
|
rs1003748020
|
0.00001
|
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp)
|
rs766550724
|
0.00001
|
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr)
|
rs1386495377
|
0.00001
|
NM_000092.5(COL4A4):c.559-2A>G
|
rs766243664
|
0.00001
|
NM_000092.5(COL4A4):c.559-2A>T
|
rs766243664
|
0.00001
|
NM_000092.5(COL4A4):c.975+1G>A
|
rs1553683192
|
0.00001
|
NC_000002.11:g.(?_227917001)_(227924979_?)del
|
|
|
NC_000002.11:g.(?_227922145)_(227927324_?)del
|
|
|
NC_000002.11:g.(?_227945139)_(227976449_?)del
|
|
|
NC_000002.11:g.(?_227946821)_(227964415_?)dup
|
|
|
NC_000002.11:g.(?_227973277)_(227974022_?)del
|
|
|
NM_000092.5(COL4A4):c.1022G>A (p.Gly341Asp)
|
|
|
NM_000092.5(COL4A4):c.1030-2A>C
|
rs1553681714
|
|
NM_000092.5(COL4A4):c.1108G>C (p.Gly370Arg)
|
|
|
NM_000092.5(COL4A4):c.114+1G>A
|
|
|
NM_000092.5(COL4A4):c.114+1G>T
|
rs1553712110
|
|
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del)
|
rs1203564054
|
|
NM_000092.5(COL4A4):c.1369+1G>A
|
rs1553676230
|
|
NM_000092.5(COL4A4):c.1370-2A>C
|
|
|
NM_000092.5(COL4A4):c.1370-2A>G
|
rs2059823776
|
|
NM_000092.5(COL4A4):c.1423G>T (p.Gly475Cys)
|
rs1371408968
|
|
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val)
|
rs1559594442
|
|
NM_000092.5(COL4A4):c.1433G>A (p.Gly478Glu)
|
|
|
NM_000092.5(COL4A4):c.1460-1G>C
|
rs2150597099
|
|
NM_000092.5(COL4A4):c.1579G>C (p.Gly527Arg)
|
|
|
NM_000092.5(COL4A4):c.1580G>A (p.Gly527Asp)
|
rs1358624171
|
|
NM_000092.5(COL4A4):c.1696+1G>A
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1696+1G>T
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1804-2del
|
|
|
NM_000092.5(COL4A4):c.1855G>A (p.Gly619Ser)
|
rs2150476860
|
|
NM_000092.5(COL4A4):c.192+1G>T
|
rs2125291407
|
|
NM_000092.5(COL4A4):c.1988-2A>T
|
rs1576238292
|
|
NM_000092.5(COL4A4):c.2057-1G>A
|
rs2150288556
|
|
NM_000092.5(COL4A4):c.2270G>A (p.Gly757Glu)
|
|
|
NM_000092.5(COL4A4):c.2320G>A (p.Gly774Ser)
|
|
|
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg)
|
rs768003309
|
|
NM_000092.5(COL4A4):c.2438G>A (p.Gly813Glu)
|
rs2150251009
|
|
NM_000092.5(COL4A4):c.2545+1G>A
|
|
|
NM_000092.5(COL4A4):c.2545+2T>G
|
rs1559515075
|
|
NM_000092.5(COL4A4):c.2546-1G>A
|
|
|
NM_000092.5(COL4A4):c.2546-1G>C
|
rs1553641728
|
|
NM_000092.5(COL4A4):c.2716+2T>A
|
|
|
NM_000092.5(COL4A4):c.2717-2A>G
|
rs2150221409
|
|
NM_000092.5(COL4A4):c.2861-10A>G
|
|
|
NM_000092.5(COL4A4):c.3169G>A (p.Gly1057Ser)
|
|
|
NM_000092.5(COL4A4):c.3214+1G>A
|
rs747167770
|
|
NM_000092.5(COL4A4):c.3214+2T>A
|
|
|
NM_000092.5(COL4A4):c.3272G>A (p.Gly1091Asp)
|
|
|
NM_000092.5(COL4A4):c.3308G>C (p.Gly1103Ala)
|
|
|
NM_000092.5(COL4A4):c.3397+1G>C
|
rs1212090722
|
|
NM_000092.5(COL4A4):c.3398-1G>T
|
|
|
NM_000092.5(COL4A4):c.3506-13_3528del
|
rs2149993330
|
|
NM_000092.5(COL4A4):c.3578-2A>G
|
|
|
NM_000092.5(COL4A4):c.373-2A>G
|
rs2125001412
|
|
NM_000092.5(COL4A4):c.3818-1G>A
|
|
|
NM_000092.5(COL4A4):c.3973+1G>T
|
rs755478262
|
|
NM_000092.5(COL4A4):c.4082-1G>T
|
rs1559438651
|
|
NM_000092.5(COL4A4):c.4082-2A>G
|
|
|
NM_000092.5(COL4A4):c.4090+2T>G
|
|
|
NM_000092.5(COL4A4):c.4091-8_4092del
|
|
|
NM_000092.5(COL4A4):c.4216+1del
|
rs1064796549
|
|
NM_000092.5(COL4A4):c.4217-1G>A
|
rs1161487989
|
|
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val)
|
rs1553695389
|
|
NM_000092.5(COL4A4):c.4333+1G>T
|
rs1963883799
|
|
NM_000092.5(COL4A4):c.4333+2T>C
|
rs755927061
|
|
NM_000092.5(COL4A4):c.4334-23A>G
|
rs766501515
|
|
NM_000092.5(COL4A4):c.445G>A (p.Gly149Arg)
|
|
|
NM_000092.5(COL4A4):c.446G>A (p.Gly149Glu)
|
|
|
NM_000092.5(COL4A4):c.4522+1G>T
|
rs2149743261
|
|
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup)
|
rs2149719615
|
|
NM_000092.5(COL4A4):c.482G>T (p.Gly161Val)
|
rs745672795
|
|
NM_000092.5(COL4A4):c.490-1G>C
|
|
|
NM_000092.5(COL4A4):c.490-1G>T
|
|
|
NM_000092.5(COL4A4):c.4900T>C (p.Cys1634Arg)
|
|
|
NM_000092.5(COL4A4):c.5044del (p.Arg1682fs)
|
rs2149713086
|
|
NM_000092.5(COL4A4):c.657+1G>T
|
rs1553688696
|
|
NM_000092.5(COL4A4):c.658-2A>G
|
rs2061011908
|
|
NM_000092.5(COL4A4):c.693+2T>C
|
|
|
NM_000092.5(COL4A4):c.72-1G>T
|
rs2063421489
|
|
NM_000092.5(COL4A4):c.816+2T>G
|
|
|
NM_000092.5(COL4A4):c.817-1G>A
|
rs2150794687
|
|
NM_000092.5(COL4A4):c.817-1G>C
|
rs2150794687
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000092.5(COL4A4):c.871-1G>A
|
rs375450996
|
|
NM_000092.5(COL4A4):c.871-1G>C
|
rs375450996
|
|
NM_000092.5(COL4A4):c.930+1G>A
|
rs2150787516
|
|
NM_000092.5(COL4A4):c.975+2T>C
|
|
|
NM_000092.5(COL4A4):c.976-2A>G
|
|
|