Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108573623del | CA2580100246 | COL4A5 | c.515del (p.Asn172IlefsTer?) c.191del (p.Asn64IlefsTer?) c.530del (p.Asn177IlefsTer?) | ClinVar |
X | g.108573623A>C | CA413920972 | COL4A5 | c.515A>C (p.Asn172Thr) c.191A>C (p.Asn64Thr) c.530A>C (p.Asn177Thr) | |
X | g.108573623A>G | CA413920974 | COL4A5 | c.515A>G (p.Asn172Ser) c.191A>G (p.Asn64Ser) c.530A>G (p.Asn177Ser) | |
X | g.108573623A>T | CA413920973 | COL4A5 | c.515A>T (p.Asn172Ile) c.191A>T (p.Asn64Ile) c.530A>T (p.Asn177Ile) | |
X | g.108573623_108573640del | CA2531530036 | COL4A5 | c.515_532del (p.Asn172_Pro178delinsThr) c.191_208del (p.Asn64_Pro70delinsThr) c.530_547del (p.Asn177_Pro183delinsThr) | |
X | g.108573624T>A | CA413920977 | COL4A5 | c.516T>A (p.Asn172Lys) c.192T>A (p.Asn64Lys) c.531T>A (p.Asn177Lys) | |
X | g.108573624T>C | CA517991629 | COL4A5 | c.516T>C (p.Asn172=) c.192T>C (p.Asn64=) c.531T>C (p.Asn177=) | |
X | g.108573624T>G | CA413920980 | COL4A5 | c.516T>G (p.Asn172Lys) c.192T>G (p.Asn64Lys) c.531T>G (p.Asn177Lys) | |
X | g.108573625C>A | CA413920983 | COL4A5 | c.517C>A (p.Pro173Thr) c.193C>A (p.Pro65Thr) c.532C>A (p.Pro178Thr) | |
X | g.108573625C>G | CA413920984 | COL4A5 | c.517C>G (p.Pro173Ala) c.193C>G (p.Pro65Ala) c.532C>G (p.Pro178Ala) | |
X | g.108573625C>T | CA413920986 | COL4A5 | c.517C>T (p.Pro173Ser) c.193C>T (p.Pro65Ser) c.532C>T (p.Pro178Ser) | |
X | g.108573626C>A | CA413920987 | COL4A5 | c.518C>A (p.Pro173Gln) c.194C>A (p.Pro65Gln) c.533C>A (p.Pro178Gln) | gnomAD v4 |
X | g.108573626C>G | CA413920990 | COL4A5 | c.518C>G (p.Pro173Arg) c.194C>G (p.Pro65Arg) c.533C>G (p.Pro178Arg) | |
X | g.108573626C>T | CA413920994 | COL4A5 | c.518C>T (p.Pro173Leu) c.194C>T (p.Pro65Leu) c.533C>T (p.Pro178Leu) | |
X | g.108573627A>C | CA517991630 | COL4A5 | c.519A>C (p.Pro173=) c.195A>C (p.Pro65=) c.534A>C (p.Pro178=) | |
X | g.108573627A>G | CA517991632 | COL4A5 | c.519A>G (p.Pro173=) c.195A>G (p.Pro65=) c.534A>G (p.Pro178=) | |
X | g.108573627A>T | CA517991631 | COL4A5 | c.519A>T (p.Pro173=) c.195A>T (p.Pro65=) c.534A>T (p.Pro178=) | |
X | g.108573628G>A | CA413920996 | COL4A5 | c.520G>A (p.Gly174Arg) c.196G>A (p.Gly66Arg) c.535G>A (p.Gly179Arg) | |
X | g.108573628G>C | CA258255 | COL4A5 | c.520G>C (p.Gly174Arg) c.196G>C (p.Gly66Arg) c.535G>C (p.Gly179Arg) | dbSNP |
X | g.108573628G= | CA2450680732 | COL4A5 | c.520G= (p.Gly174=) c.196G= (p.Gly66=) c.535G= (p.Gly179=) | |
X | g.108573628G>T | CA413921000 | COL4A5 | c.520G>T (p.Gly174Ter) c.196G>T (p.Gly66Ter) c.535G>T (p.Gly179Ter) | gnomAD v4 |
X | g.108573629G>A | CA413921009 | COL4A5 | c.521G>A (p.Gly174Glu) c.197G>A (p.Gly66Glu) c.536G>A (p.Gly179Glu) | COSMIC |
X | g.108573629G>C | CA413921006 | COL4A5 | c.521G>C (p.Gly174Ala) c.197G>C (p.Gly66Ala) c.536G>C (p.Gly179Ala) | |
X | g.108573629G>T | CA413921003 | COL4A5 | c.521G>T (p.Gly174Val) c.197G>T (p.Gly66Val) c.536G>T (p.Gly179Val) | |
X | g.108573630A>C | CA517991633 | COL4A5 | c.522A>C (p.Gly174=) c.198A>C (p.Gly66=) c.537A>C (p.Gly179=) | |
X | g.108573630A>G | CA517991634 | COL4A5 | c.522A>G (p.Gly174=) c.198A>G (p.Gly66=) c.537A>G (p.Gly179=) | |
X | g.108573630A>T | CA517991635 | COL4A5 | c.522A>T (p.Gly174=) c.198A>T (p.Gly66=) c.537A>T (p.Gly179=) | |
X | g.108573631T>A | CA413921011 | COL4A5 | c.523T>A (p.Tyr175Asn) c.199T>A (p.Tyr67Asn) c.538T>A (p.Tyr180Asn) | |
X | g.108573631T>C | CA413921015 | COL4A5 | c.523T>C (p.Tyr175His) c.199T>C (p.Tyr67His) c.538T>C (p.Tyr180His) | |
X | g.108573631T>G | CA413921013 | COL4A5 | c.523T>G (p.Tyr175Asp) c.199T>G (p.Tyr67Asp) c.538T>G (p.Tyr180Asp) | |
X | g.108573632A= | CA2450680738 | COL4A5 | c.524A= (p.Tyr175=) c.200A= (p.Tyr67=) c.539A= (p.Tyr180=) | |
X | g.108573632A>C | CA413921018 | COL4A5 | c.524A>C (p.Tyr175Ser) c.200A>C (p.Tyr67Ser) c.539A>C (p.Tyr180Ser) | dbSNP gnomAD v4 |
X | g.108573632A>G | CA413921022 | COL4A5 | c.524A>G (p.Tyr175Cys) c.200A>G (p.Tyr67Cys) c.539A>G (p.Tyr180Cys) | |
X | g.108573632A>T | CA413921020 | COL4A5 | c.524A>T (p.Tyr175Phe) c.200A>T (p.Tyr67Phe) c.539A>T (p.Tyr180Phe) | |
X | g.108573633T>A | CA413921025 | COL4A5 | c.525T>A (p.Tyr175Ter) c.201T>A (p.Tyr67Ter) c.540T>A (p.Tyr180Ter) | |
X | g.108573633T>C | CA517991636 | COL4A5 | c.525T>C (p.Tyr175=) c.201T>C (p.Tyr67=) c.540T>C (p.Tyr180=) | |
X | g.108573633T>G | CA413921027 | COL4A5 | c.525T>G (p.Tyr175Ter) c.201T>G (p.Tyr67Ter) c.540T>G (p.Tyr180Ter) | |
X | g.108573636_108573644del | CA2694411165 | COL4A5 | c.528_536del (p.Gly177_Pro179del) c.204_212del (p.Gly69_Pro71del) c.543_551del (p.Gly182_Pro184del) | gnomAD v4 |
X | g.108573634C>A | CA413921037 | COL4A5 | c.526C>A (p.Pro176Thr) c.202C>A (p.Pro68Thr) c.541C>A (p.Pro181Thr) | gnomAD v4 |
X | g.108573634C= | CA2450680742 | COL4A5 | c.526C= (p.Pro176=) c.202C= (p.Pro68=) c.541C= (p.Pro181=) | |
X | g.108573634C>G | CA413921040 | COL4A5 | c.526C>G (p.Pro176Ala) c.202C>G (p.Pro68Ala) c.541C>G (p.Pro181Ala) | |
X | g.108573634C>T | CA413921043 | COL4A5 | c.526C>T (p.Pro176Ser) c.202C>T (p.Pro68Ser) c.541C>T (p.Pro181Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108573635C>A | CA413921044 | COL4A5 | c.527C>A (p.Pro176Gln) c.203C>A (p.Pro68Gln) c.542C>A (p.Pro181Gln) | gnomAD v4 |
X | g.108573635C>G | CA413921046 | COL4A5 | c.527C>G (p.Pro176Arg) c.203C>G (p.Pro68Arg) c.542C>G (p.Pro181Arg) | |
X | g.108573635C>T | CA413921048 | COL4A5 | c.527C>T (p.Pro176Leu) c.203C>T (p.Pro68Leu) c.542C>T (p.Pro181Leu) | |
X | g.108573636A= | CA2450680746 | COL4A5 | c.528A= (p.Pro176=) c.204A= (p.Pro68=) c.543A= (p.Pro181=) | |
X | g.108573636A>C | CA517991637 | COL4A5 | c.528A>C (p.Pro176=) c.204A>C (p.Pro68=) c.543A>C (p.Pro181=) | |
X | g.108573636A>G | CA10488479 | COL4A5 | c.528A>G (p.Pro176=) c.204A>G (p.Pro68=) c.543A>G (p.Pro181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573636A>T | CA517991638 | COL4A5 | c.528A>T (p.Pro176=) c.204A>T (p.Pro68=) c.543A>T (p.Pro181=) | |
X | g.108573637G>A | CA413921054 | COL4A5 | c.529G>A (p.Gly177Ser) c.205G>A (p.Gly69Ser) c.544G>A (p.Gly182Ser) |