Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1175052474
COL4A3 ; MFF-DT
1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06 5
rs1060499654
COL4A3 ; MFF-DT
0.882 0.120 2 227280587 stop gained C/T snv 7.0E-06 3
rs1363680371
MFF-DT ; COL4A3
0.882 0.120 2 227254659 frameshift variant -/T delins 3
rs1553676221
COL4A4
0.925 2 227094122 splice donor variant ACCACTTGATCCTGGGAGGCCCTGCAGGCCTGGTGCTCCAGGCAAGCCAGGT/- delins 2
rs1005389790
COL4A4
1.000 2 227101899 missense variant C/A;T snv 1
rs1057516204
MFF-DT ; COL4A3
1.000 2 227293219 frameshift variant AAAG/- delins 1
rs1057519376
MFF-DT ; COL4A3
1.000 2 227257613 missense variant G/C snv 1
rs1057519377
MFF-DT ; COL4A3
1.000 2 227308910 missense variant A/T snv 1
rs1553622675
COL4A4
1.000 2 227025802 missense variant C/A snv 1
rs1553624029
COL4A4
1.000 2 227027920 missense variant C/T snv 1
rs1553625684
COL4A4
1.000 2 227030581 frameshift variant -/T delins 1
rs1553639043
COL4A4
1.000 2 227051159 splice acceptor variant C/G snv 1
rs1553760558
MFF-DT ; COL4A3
1.000 2 227283794 missense variant G/A snv 1
rs1559394354
COL4A4
1.000 2 227007578 frameshift variant G/- del 1
rs1559455617
COL4A4
1.000 2 227032216 missense variant C/A snv 1
rs1559563141
COL4A4
1.000 2 227077974 missense variant C/T snv 1
rs1559563525
COL4A4
1.000 2 227078053 missense variant C/T snv 1
rs1559594442
COL4A4
1.000 2 227089903 missense variant C/A snv 1
rs1559606445
COL4A4
1.000 2 227094257 frameshift variant AAATCCTTGTGGCCCAG/- delins 1
rs1559620132
COL4A4
1.000 2 227099690 splice acceptor variant C/G snv 1
rs1559628183
COL4A4
1.000 2 227102815 frameshift variant -/T delins 1
rs1559644463
COL4A4
1.000 2 227108833 splice region variant C/T snv 1
rs1559646395
COL4A4
1.000 2 227109285 missense variant C/A snv 1
rs1559890352
COL4A3 ; MFF-DT
1.000 2 227276459 missense variant G/C snv 1
rs1559909384
MFF-DT ; COL4A3
1.000 2 227293210 missense variant G/A snv 1