| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110168320_110172666del | CA2580616537 | COL4A1 | c.3556+54_3877-1090del c.3364+54_3685-1090del | ClinVar |
| 13 | g.110169708C>A | CA388661870 | COL4A1 | c.3797G>T (p.Gly1266Val) c.3605G>T (p.Gly1202Val) | |
| 13 | g.110169708C= | CA2118732801 | COL4A1 | c.3797G= (p.Gly1266=) c.3605G= (p.Gly1202=) | |
| 13 | g.110169708C>G | CA388661872 | COL4A1 | c.3797G>C (p.Gly1266Ala) c.3605G>C (p.Gly1202Ala) | |
| 13 | g.110169708C>T | CA16042819 | COL4A1 | c.3797G>A (p.Gly1266Asp) c.3605G>A (p.Gly1202Asp) | ClinVar dbSNP |
| 13 | g.110169709C>A | CA388661874 | COL4A1 | c.3796G>T (p.Gly1266Cys) c.3604G>T (p.Gly1202Cys) | |
| 13 | g.110169709C>G | CA388661875 | COL4A1 | c.3796G>C (p.Gly1266Arg) c.3604G>C (p.Gly1202Arg) | ClinVar |
| 13 | g.110169709C>T | CA388661877 | COL4A1 | c.3796G>A (p.Gly1266Ser) c.3604G>A (p.Gly1202Ser) | |
| 13 | g.110169710T>A | CA388661881 | COL4A1 | c.3795A>T (p.Lys1265Asn) c.3603A>T (p.Lys1201Asn) | |
| 13 | g.110169710T>C | CA484788766 | COL4A1 | c.3795A>G (p.Lys1265=) c.3603A>G (p.Lys1201=) | |
| 13 | g.110169710T>G | CA388661879 | COL4A1 | c.3795A>C (p.Lys1265Asn) c.3603A>C (p.Lys1201Asn) | |
| 13 | g.110169711T>A | CA388661883 | COL4A1 | c.3794A>T (p.Lys1265Ile) c.3602A>T (p.Lys1201Ile) | |
| 13 | g.110169711T>C | CA388661885 | COL4A1 | c.3794A>G (p.Lys1265Arg) c.3602A>G (p.Lys1201Arg) | |
| 13 | g.110169711T>G | CA388661887 | COL4A1 | c.3794A>C (p.Lys1265Thr) c.3602A>C (p.Lys1201Thr) | dbSNP |
| 13 | g.110169711T= | CA2118732805 | COL4A1 | c.3794A= (p.Lys1265=) c.3602A= (p.Lys1201=) | |
| 13 | g.110169712T>A | CA388661888 | COL4A1 | c.3793A>T (p.Lys1265Ter) c.3601A>T (p.Lys1201Ter) | |
| 13 | g.110169712T>C | CA388661890 | COL4A1 | c.3793A>G (p.Lys1265Glu) c.3601A>G (p.Lys1201Glu) | gnomAD v4 |
| 13 | g.110169712T>G | CA388661891 | COL4A1 | c.3793A>C (p.Lys1265Gln) c.3601A>C (p.Lys1201Gln) | |
| 13 | g.110169713A>C | CA484788769 | COL4A1 | c.3792T>G (p.Val1264=) c.3600T>G (p.Val1200=) | |
| 13 | g.110169713A>G | CA484788770 | COL4A1 | c.3792T>C (p.Val1264=) c.3600T>C (p.Val1200=) | |
| 13 | g.110169713A>T | CA484788771 | COL4A1 | c.3792T>A (p.Val1264=) c.3600T>A (p.Val1200=) | |
| 13 | g.110169714A= | CA2118732807 | COL4A1 | c.3791T= (p.Val1264=) c.3599T= (p.Val1200=) | |
| 13 | g.110169714A>C | CA388661893 | COL4A1 | c.3791T>G (p.Val1264Gly) c.3599T>G (p.Val1200Gly) | dbSNP gnomAD v2 |
| 13 | g.110169714A>G | CA388661897 | COL4A1 | c.3791T>C (p.Val1264Ala) c.3599T>C (p.Val1200Ala) | |
| 13 | g.110169714A>T | CA388661895 | COL4A1 | c.3791T>A (p.Val1264Asp) c.3599T>A (p.Val1200Asp) | |
| 13 | g.110169715C>A | CA388661899 | COL4A1 | c.3790G>T (p.Val1264Phe) c.3598G>T (p.Val1200Phe) | |
| 13 | g.110169715C>G | CA388661900 | COL4A1 | c.3790G>C (p.Val1264Leu) c.3598G>C (p.Val1200Leu) | |
| 13 | g.110169715C>T | CA388661902 | COL4A1 | c.3790G>A (p.Val1264Ile) c.3598G>A (p.Val1200Ile) | |
| 13 | g.110169716T>A | CA484788772 | COL4A1 | c.3789A>T (p.Gly1263=) c.3597A>T (p.Gly1199=) | |
| 13 | g.110169716T>C | CA484788773 | COL4A1 | c.3789A>G (p.Gly1263=) c.3597A>G (p.Gly1199=) | |
| 13 | g.110169716T>G | CA484788774 | COL4A1 | c.3789A>C (p.Gly1263=) c.3597A>C (p.Gly1199=) | |
| 13 | g.110169717C>A | CA388661904 | COL4A1 | c.3788G>T (p.Gly1263Val) c.3596G>T (p.Gly1199Val) | |
| 13 | g.110169717C>G | CA388661906 | COL4A1 | c.3788G>C (p.Gly1263Ala) c.3596G>C (p.Gly1199Ala) | |
| 13 | g.110169717C>T | CA388661908 | COL4A1 | c.3788G>A (p.Gly1263Glu) c.3596G>A (p.Gly1199Glu) | |
| 13 | g.110169718C>A | CA388661910 | COL4A1 | c.3787G>T (p.Gly1263Ter) c.3595G>T (p.Gly1199Ter) | |
| 13 | g.110169718C>G | CA388661912 | COL4A1 | c.3787G>C (p.Gly1263Arg) c.3595G>C (p.Gly1199Arg) | |
| 13 | g.110169718C>T | CA388661914 | COL4A1 | c.3787G>A (p.Gly1263Arg) c.3595G>A (p.Gly1199Arg) | |
| 13 | g.110169719A>C | CA388661916 | COL4A1 | c.3786T>G (p.Asp1262Glu) c.3594T>G (p.Asp1198Glu) | |
| 13 | g.110169719A>G | CA484788775 | COL4A1 | c.3786T>C (p.Asp1262=) c.3594T>C (p.Asp1198=) | |
| 13 | g.110169719A>T | CA388661918 | COL4A1 | c.3786T>A (p.Asp1262Glu) c.3594T>A (p.Asp1198Glu) | |
| 13 | g.110169720T>A | CA388661922 | COL4A1 | c.3785A>T (p.Asp1262Val) c.3593A>T (p.Asp1198Val) | |
| 13 | g.110169720T>C | CA388661924 | COL4A1 | c.3785A>G (p.Asp1262Gly) c.3593A>G (p.Asp1198Gly) | |
| 13 | g.110169720T>G | CA388661920 | COL4A1 | c.3785A>C (p.Asp1262Ala) c.3593A>C (p.Asp1198Ala) | |
| 13 | g.110169721C>A | CA388661926 | COL4A1 | c.3784G>T (p.Asp1262Tyr) c.3592G>T (p.Asp1198Tyr) | |
| 13 | g.110169721C= | CA2118732809 | COL4A1 | c.3784G= (p.Asp1262=) c.3592G= (p.Asp1198=) | |
| 13 | g.110169721C>G | CA7047138 | COL4A1 | c.3784G>C (p.Asp1262His) c.3592G>C (p.Asp1198His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169721C>T | CA388661927 | COL4A1 | c.3784G>A (p.Asp1262Asn) c.3592G>A (p.Asp1198Asn) | |
| 13 | g.110169722A>C | CA388661930 | COL4A1 | c.3783T>G (p.Ile1261Met) c.3591T>G (p.Ile1197Met) | |
| 13 | g.110169722A>G | CA484788777 | COL4A1 | c.3783T>C (p.Ile1261=) c.3591T>C (p.Ile1197=) | |
| 13 | g.110169722A>T | CA484788776 | COL4A1 | c.3783T>A (p.Ile1261=) c.3591T>A (p.Ile1197=) |