Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
X | g.108573637G>C | CA258259 | COL4A5 | c.529G>C (p.Gly177Arg) c.205G>C (p.Gly69Arg) c.544G>C (p.Gly182Arg) | dbSNP |
X | g.108573637G= | CA2450680747 | COL4A5 | c.529G= (p.Gly177=) c.205G= (p.Gly69=) c.544G= (p.Gly182=) | |
X | g.108573637G>T | CA258257 | COL4A5 | c.529G>T (p.Gly177Cys) c.205G>T (p.Gly69Cys) c.544G>T (p.Gly182Cys) | ClinVar dbSNP |
X | g.108573638G>A | CA413921068 | COL4A5 | c.530G>A (p.Gly177Asp) c.206G>A (p.Gly69Asp) c.545G>A (p.Gly182Asp) | ClinVar dbSNP |
X | g.108573638G>C | CA413921062 | COL4A5 | c.530G>C (p.Gly177Ala) c.206G>C (p.Gly69Ala) c.545G>C (p.Gly182Ala) | ClinVar |
X | g.108573638G= | CA2450680751 | COL4A5 | c.530G= (p.Gly177=) c.206G= (p.Gly69=) c.545G= (p.Gly182=) | |
X | g.108573638G>T | CA413921066 | COL4A5 | c.530G>T (p.Gly177Val) c.206G>T (p.Gly69Val) c.545G>T (p.Gly182Val) | |
X | g.108573639T>A | CA517991639 | COL4A5 | c.531T>A (p.Gly177=) c.207T>A (p.Gly69=) c.546T>A (p.Gly182=) | |
X | g.108573639T>C | CA517991640 | COL4A5 | c.531T>C (p.Gly177=) c.207T>C (p.Gly69=) c.546T>C (p.Gly182=) | |
X | g.108573639T>G | CA517991641 | COL4A5 | c.531T>G (p.Gly177=) c.207T>G (p.Gly69=) c.546T>G (p.Gly182=) | |
X | g.108573639_108573640delinsTC | CA2450680755 | COL4A5 | c.531_532delinsTC (p.Gly177=) c.207_208delinsTC (p.Gly69=) c.546_547delinsTC (p.Gly182=) | |
X | g.108573640C>A | CA413921071 | COL4A5 | c.532C>A (p.Pro178Thr) c.208C>A (p.Pro70Thr) c.547C>A (p.Pro183Thr) | gnomAD v4 |
X | g.108573640C= | CA2450680765 | COL4A5 | c.532C= (p.Pro178=) c.208C= (p.Pro70=) c.547C= (p.Pro183=) | |
X | g.108573640C>G | CA413921073 | COL4A5 | c.532C>G (p.Pro178Ala) c.208C>G (p.Pro70Ala) c.547C>G (p.Pro183Ala) | gnomAD v4 |
X | g.108573640C>T | CA413921076 | COL4A5 | c.532C>T (p.Pro178Ser) c.208C>T (p.Pro70Ser) c.547C>T (p.Pro183Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108573641del | CA258261 | COL4A5 | c.533del (p.Pro178LeufsTer25) c.209del (p.Pro70LeufsTer25) c.548del (p.Pro183LeufsTer25) | dbSNP gnomAD v4 |
X | g.108573641C>A | CA413921081 | COL4A5 | c.533C>A (p.Pro178His) c.209C>A (p.Pro70His) c.548C>A (p.Pro183His) | |
X | g.108573641C>G | CA413921083 | COL4A5 | c.533C>G (p.Pro178Arg) c.209C>G (p.Pro70Arg) c.548C>G (p.Pro183Arg) | |
X | g.108573641C>T | CA413921086 | COL4A5 | c.533C>T (p.Pro178Leu) c.209C>T (p.Pro70Leu) c.548C>T (p.Pro183Leu) | dbSNP |
X | g.108573642T>A | CA517991642 | COL4A5 | c.534T>A (p.Pro178=) c.210T>A (p.Pro70=) c.549T>A (p.Pro183=) | |
X | g.108573642T>C | CA517991644 | COL4A5 | c.534T>C (p.Pro178=) c.210T>C (p.Pro70=) c.549T>C (p.Pro183=) | |
X | g.108573642T>G | CA517991643 | COL4A5 | c.534T>G (p.Pro178=) c.210T>G (p.Pro70=) c.549T>G (p.Pro183=) | |
X | g.108573643C>A | CA413921087 | COL4A5 | c.535C>A (p.Pro179Thr) c.211C>A (p.Pro71Thr) c.550C>A (p.Pro184Thr) | dbSNP |
X | g.108573643C= | CA2450680768 | COL4A5 | c.535C= (p.Pro179=) c.211C= (p.Pro71=) c.550C= (p.Pro184=) | |
X | g.108573643C>G | CA10488480 | COL4A5 | c.535C>G (p.Pro179Ala) c.211C>G (p.Pro71Ala) c.550C>G (p.Pro184Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.108573643C>T | CA413921089 | COL4A5 | c.535C>T (p.Pro179Ser) c.211C>T (p.Pro71Ser) c.550C>T (p.Pro184Ser) | gnomAD v4 COSMIC |
X | g.108573643_108573644del | CA2518470192 | COL4A5 | c.535_536del (p.Pro179TrpfsTer?) c.211_212del (p.Pro71TrpfsTer?) c.550_551del (p.Pro184TrpfsTer?) | |
X | g.108573644C>A | CA413921096 | COL4A5 | c.536C>A (p.Pro179His) c.212C>A (p.Pro71His) c.551C>A (p.Pro184His) | gnomAD v4 |
X | g.108573644C= | CA2450680769 | COL4A5 | c.536C= (p.Pro179=) c.212C= (p.Pro71=) c.551C= (p.Pro184=) | |
X | g.108573644C>G | CA413921093 | COL4A5 | c.536C>G (p.Pro179Arg) c.212C>G (p.Pro71Arg) c.551C>G (p.Pro184Arg) | |
X | g.108573644C>T | CA413921091 | COL4A5 | c.536C>T (p.Pro179Leu) c.212C>T (p.Pro71Leu) c.551C>T (p.Pro184Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573645T>A | CA517991645 | COL4A5 | c.537T>A (p.Pro179=) c.213T>A (p.Pro71=) c.552T>A (p.Pro184=) | |
X | g.108573645T>C | CA517991646 | COL4A5 | c.537T>C (p.Pro179=) c.213T>C (p.Pro71=) c.552T>C (p.Pro184=) | |
X | g.108573645T>G | CA517991647 | COL4A5 | c.537T>G (p.Pro179=) c.213T>G (p.Pro71=) c.552T>G (p.Pro184=) | |
X | g.108573646G>A | CA258262 | COL4A5 | c.538G>A (p.Gly180Arg) c.214G>A (p.Gly72Arg) c.553G>A (p.Gly185Arg) | ClinVar dbSNP |
X | g.108573646G>C | CA413921103 | COL4A5 | c.538G>C (p.Gly180Arg) c.214G>C (p.Gly72Arg) c.553G>C (p.Gly185Arg) | |
X | g.108573646G= | CA2450680772 | COL4A5 | c.538G= (p.Gly180=) c.214G= (p.Gly72=) c.553G= (p.Gly185=) | |
X | g.108573646G>T | CA413921106 | COL4A5 | c.538G>T (p.Gly180Ter) c.214G>T (p.Gly72Ter) c.553G>T (p.Gly185Ter) | |
X | g.108573646_108573647insA | CA2554550267 | COL4A5 | c.538_539insA (p.Gly180GlufsTer?) c.214_215insA (p.Gly72GlufsTer?) c.553_554insA (p.Gly185GlufsTer?) | |
X | g.108573647G>A | CA413921110 | COL4A5 | c.539G>A (p.Gly180Glu) c.215G>A (p.Gly72Glu) c.554G>A (p.Gly185Glu) | ClinVar dbSNP gnomAD v4 |
X | g.108573647G>C | CA413921112 | COL4A5 | c.539G>C (p.Gly180Ala) c.215G>C (p.Gly72Ala) c.554G>C (p.Gly185Ala) | |
X | g.108573647G>T | CA413921114 | COL4A5 | c.539G>T (p.Gly180Val) c.215G>T (p.Gly72Val) c.554G>T (p.Gly185Val) | |
X | g.108573648A>C | CA517991650 | COL4A5 | c.540A>C (p.Gly180=) c.216A>C (p.Gly72=) c.555A>C (p.Gly185=) | |
X | g.108573648A>G | CA517991648 | COL4A5 | c.540A>G (p.Gly180=) c.216A>G (p.Gly72=) c.555A>G (p.Gly185=) | gnomAD v4 |
X | g.108573648A>T | CA517991649 | COL4A5 | c.540A>T (p.Gly180=) c.216A>T (p.Gly72=) c.555A>T (p.Gly185=) | |
X | g.108573649A>C | CA413921119 | COL4A5 | c.541A>C (p.Ile181Leu) c.217A>C (p.Ile73Leu) c.556A>C (p.Ile186Leu) | |
X | g.108573649A>G | CA413921122 | COL4A5 | c.541A>G (p.Ile181Val) c.217A>G (p.Ile73Val) c.556A>G (p.Ile186Val) | |
X | g.108573649A>T | CA413921124 | COL4A5 | c.541A>T (p.Ile181Leu) c.217A>T (p.Ile73Leu) c.556A>T (p.Ile186Leu) | |
X | g.108573649_108573650insC | CA2545068648 | COL4A5 | c.541_542insC (p.Ile181ThrfsTer?) c.217_218insC (p.Ile73ThrfsTer?) c.556_557insC (p.Ile186ThrfsTer?) | |
X | g.108573650T>A | CA413921126 | COL4A5 | c.542T>A (p.Ile181Lys) c.218T>A (p.Ile73Lys) c.557T>A (p.Ile186Lys) | |
X | g.108573650T>C | CA413921129 | COL4A5 | c.542T>C (p.Ile181Thr) c.218T>C (p.Ile73Thr) c.557T>C (p.Ile186Thr) | |
X | g.108573650T>G | CA413921131 | COL4A5 | c.542T>G (p.Ile181Arg) c.218T>G (p.Ile73Arg) c.557T>G (p.Ile186Arg) | |
X | g.108573650_108573657delinsTACAAGTA | CA2450680774 | COL4A5 | c.542_546+3delinsTACAAGTA c.218_222+3delinsTACAAGTA c.557_561+3delinsTACAAGTA | |
X | g.108573651A>C | CA517991651 | COL4A5 | c.543A>C (p.Ile181=) c.219A>C (p.Ile73=) c.558A>C (p.Ile186=) | |
X | g.108573651A>G | CA413921133 | COL4A5 | c.543A>G (p.Ile181Met) c.219A>G (p.Ile73Met) c.558A>G (p.Ile186Met) | gnomAD v4 |
X | g.108573651A>T | CA517991652 | COL4A5 | c.543A>T (p.Ile181=) c.219A>T (p.Ile73=) c.558A>T (p.Ile186=) | |
X | g.108573652_108573658del | CA891843908 | COL4A5 | c.544_546+4del c.220_222+4del c.559_561+4del | |
X | g.108573652C>A | CA413921142 | COL4A5 | c.544C>A (p.Gln182Lys) c.220C>A (p.Gln74Lys) c.559C>A (p.Gln187Lys) | gnomAD v4 |
X | g.108573652C= | CA2450680775 | COL4A5 | c.544C= (p.Gln182=) c.220C= (p.Gln74=) c.559C= (p.Gln187=) | |
X | g.108573652C>G | CA413921137 | COL4A5 | c.544C>G (p.Gln182Glu) c.220C>G (p.Gln74Glu) c.559C>G (p.Gln187Glu) | |
X | g.108573652C>T | CA413921140 | COL4A5 | c.544C>T (p.Gln182Ter) c.220C>T (p.Gln74Ter) c.559C>T (p.Gln187Ter) | gnomAD v4 |
X | g.108573652_108573656delinsCAAGT | CA2450680776 | COL4A5 | c.544_546+2delinsCAAGT c.220_222+2delinsCAAGT c.559_561+2delinsCAAGT | |
X | g.108573652_108573659del | CA2526418618 | COL4A5 | c.544_546+5del c.220_222+5del c.559_561+5del | |
X | g.108573653A= | CA2450680777 | COL4A5 | c.545A= (p.Gln182=) c.221A= (p.Gln74=) c.560A= (p.Gln187=) | |
X | g.108573653A>C | CA413921145 | COL4A5 | c.545A>C (p.Gln182Pro) c.221A>C (p.Gln74Pro) c.560A>C (p.Gln187Pro) | |
X | g.108573653A>G | CA413921147 | COL4A5 | c.545A>G (p.Gln182Arg) c.221A>G (p.Gln74Arg) c.560A>G (p.Gln187Arg) | |
X | g.108573653A>T | CA10488481 | COL4A5 | c.545A>T (p.Gln182Leu) c.221A>T (p.Gln74Leu) c.560A>T (p.Gln187Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573654del | CA2739290559 | COL4A5 | c.546del (p.Gly183AlafsTer20) c.222del (p.Gly75AlafsTer20) c.561del (p.Gly188AlafsTer20) | |
X | g.108573658_108573661del | CA658823829 | COL4A5 | c.546+4_546+7del c.222+4_222+7del c.561+4_561+7del | ClinVar dbSNP |
X | g.108573654A= | CA2450680778 | COL4A5 | c.546A= (p.Gln182=) c.222A= (p.Gln74=) c.561A= (p.Gln187=) | |
X | g.108573654A>C | CA413921152 | COL4A5 | c.546A>C (p.Gln182His) c.222A>C (p.Gln74His) c.561A>C (p.Gln187His) | |
X | g.108573654A>G | CA517991653 | COL4A5 | c.546A>G (p.Gln182=) c.222A>G (p.Gln74=) c.561A>G (p.Gln187=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573654A>T | CA413921154 | COL4A5 | c.546A>T (p.Gln182His) c.222A>T (p.Gln74His) c.561A>T (p.Gln187His) | |
X | g.108573655G>A | CA258265 | COL4A5 | c.546+1G>A (n.546+1G>A) c.222+1G>A (n.222+1G>A) c.561+1G>A (n.561+1G>A) | ClinVar dbSNP gnomAD v4 |
X | g.108573655G>C | CA413921157 | COL4A5 | c.546+1G>C (n.546+1G>C) c.222+1G>C (n.222+1G>C) c.561+1G>C (n.561+1G>C) | |
X | g.108573655G= | CA2450680779 | COL4A5 | c.546+1G= (n.546+1G=) c.222+1G= (n.222+1G=) c.561+1G= (n.561+1G=) | |
X | g.108573655G>T | CA413921160 | COL4A5 | c.546+1G>T (n.546+1G>T) c.222+1G>T (n.222+1G>T) c.561+1G>T (n.561+1G>T) | |
X | g.108573656T>A | CA413921163 | COL4A5 | c.546+2T>A (n.546+2T>A) c.222+2T>A (n.222+2T>A) c.561+2T>A (n.561+2T>A) | |
X | g.108573656T>C | CA413921165 | COL4A5 | c.546+2T>C (n.546+2T>C) c.222+2T>C (n.222+2T>C) c.561+2T>C (n.561+2T>C) | |
X | g.108573656T>G | CA413921167 | COL4A5 | c.546+2T>G (n.546+2T>G) c.222+2T>G (n.222+2T>G) c.561+2T>G (n.561+2T>G) | ClinVar dbSNP |
X | g.108573656T= | CA2450680781 | COL4A5 | c.546+2T= (n.546+2T=) c.222+2T= (n.222+2T=) c.561+2T= (n.561+2T=) | |
X | g.108573656dup | CA658823830 | COL4A5 | c.546+2dup (n.546+2dup) c.222+2dup (n.222+2dup) c.561+2dup (n.561+2dup) | ClinVar dbSNP |
X | g.108573656_108573657delinsTA | CA2450680780 | COL4A5 | c.546+2_546+3delinsTA (n.546+2_546+3delinsTA) c.222+2_222+3delinsTA (n.222+2_222+3delinsTA) c.561+2_561+3delinsTA (n.561+2_561+3delinsTA) | |
X | g.108573657A= | CA2450680782 | COL4A5 | c.546+3A= (n.546+3A=) c.222+3A= (n.222+3A=) c.561+3A= (n.561+3A=) | |
X | g.108573657A>G | CA2694411172 | COL4A5 | c.546+3A>G (n.546+3A>G) c.222+3A>G (n.222+3A>G) c.561+3A>G (n.561+3A>G) | gnomAD v4 |
X | g.108573658del | CA2450680783 | COL4A5 | c.546+4del (n.546+4del) c.222+4del (n.222+4del) c.561+4del (n.561+4del) | ClinVar dbSNP |
X | g.108573657_108573658insT | CA258266 | COL4A5 | c.546+3_546+4insT (n.546+3_546+4insT) c.222+3_222+4insT (n.222+3_222+4insT) c.561+3_561+4insT (n.561+3_561+4insT) | dbSNP |
X | g.108573658A>G | CA2579675877 | COL4A5 | c.546+4A>G (n.546+4A>G) c.222+4A>G (n.222+4A>G) c.561+4A>G (n.561+4A>G) | ClinVar gnomAD v4 |
X | g.108573659G>C | CA2695235180 | COL4A5 | c.546+5G>C (n.546+5G>C) c.222+5G>C (n.222+5G>C) c.561+5G>C (n.561+5G>C) | |
X | g.108573659G>T | CA915940910 | COL4A5 | c.546+5G>T (n.546+5G>T) c.222+5G>T (n.222+5G>T) c.561+5G>T (n.561+5G>T) | |
X | g.108573660T>A | CA2573159175 | COL4A5 | c.546+6T>A (n.546+6T>A) c.222+6T>A (n.222+6T>A) c.561+6T>A (n.561+6T>A) | ClinVar dbSNP |
X | g.108573660T>C | CA2694411176 | COL4A5 | c.546+6T>C (n.546+6T>C) c.222+6T>C (n.222+6T>C) c.561+6T>C (n.561+6T>C) | gnomAD v4 |
X | g.108573661A>G | CA2694411178 | COL4A5 | c.546+7A>G (n.546+7A>G) c.222+7A>G (n.222+7A>G) c.561+7A>G (n.561+7A>G) | gnomAD v4 |
X | g.108573662T>C | CA2694411179 | COL4A5 | c.546+8T>C (n.546+8T>C) c.222+8T>C (n.222+8T>C) c.561+8T>C (n.561+8T>C) | gnomAD v4 |
X | g.108573663C>A | CA10488482 | COL4A5 | c.546+9C>A (n.546+9C>A) c.222+9C>A (n.222+9C>A) c.561+9C>A (n.561+9C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573663C= | CA2450680784 | COL4A5 | c.546+9C= (n.546+9C=) c.222+9C= (n.222+9C=) c.561+9C= (n.561+9C=) | |
X | g.108573663C>T | CA2694411186 | COL4A5 | c.546+9C>T (n.546+9C>T) c.222+9C>T (n.222+9C>T) c.561+9C>T (n.561+9C>T) | gnomAD v4 |
X | g.108573664del | CA2694411182 | COL4A5 | c.546+10del (n.546+10del) c.222+10del (n.222+10del) c.561+10del (n.561+10del) | gnomAD v4 |
X | g.108573664C>T | CA2694411190 | COL4A5 | c.546+10C>T (n.546+10C>T) c.222+10C>T (n.222+10C>T) c.561+10C>T (n.561+10C>T) | gnomAD v4 |
X | g.108573665A= | CA2450680785 | COL4A5 | c.546+11A= (n.546+11A=) c.222+11A= (n.222+11A=) c.561+11A= (n.561+11A=) | |
X | g.108573665A>G | CA869820158 | COL4A5 | c.546+11A>G (n.546+11A>G) c.222+11A>G (n.222+11A>G) c.561+11A>G (n.561+11A>G) | dbSNP gnomAD v4 |
X | g.108573666G>A | CA2694411191 | COL4A5 | c.546+12G>A (n.546+12G>A) c.222+12G>A (n.222+12G>A) c.561+12G>A (n.561+12G>A) | gnomAD v4 |
X | g.108573668G>T | CA2841046782 | COL4A5 | c.546+14G>T (n.546+14G>T) c.222+14G>T (n.222+14G>T) c.561+14G>T (n.561+14G>T) | |
X | g.108573669A= | CA2450680786 | COL4A5 | c.546+15A= (n.546+15A=) c.222+15A= (n.222+15A=) c.561+15A= (n.561+15A=) | |
X | g.108573669A>G | CA2822894009 | COL4A5 | c.546+15A>G (n.546+15A>G) c.222+15A>G (n.222+15A>G) c.561+15A>G (n.561+15A>G) | |
X | g.108573669A>T | CA10488483 | COL4A5 | c.546+15A>T (n.546+15A>T) c.222+15A>T (n.222+15A>T) c.561+15A>T (n.561+15A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573671_108573672insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA | CA2694411199 | COL4A5 | c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA (n.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA) c.222+17_222+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA (n.222+17_222+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA) c.561+17_561+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA (n.561+17_561+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA) | gnomAD v4 |
X | g.108573672T>C | CA2694411198 | COL4A5 | c.546+18T>C (n.546+18T>C) c.222+18T>C (n.222+18T>C) c.561+18T>C (n.561+18T>C) | gnomAD v4 |
X | g.108573672T>G | CA10488484 | COL4A5 | c.546+18T>G (n.546+18T>G) c.222+18T>G (n.222+18T>G) c.561+18T>G (n.561+18T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108573672T= | CA2450680787 | COL4A5 | c.546+18T= (n.546+18T=) c.222+18T= (n.222+18T=) c.561+18T= (n.561+18T=) | |
X | g.108573673T>C | CA2694411202 | COL4A5 | c.546+19T>C (n.546+19T>C) c.222+19T>C (n.222+19T>C) c.561+19T>C (n.561+19T>C) | gnomAD v4 |
X | g.108573674C>A | CA2694411203 | COL4A5 | c.546+20C>A (n.546+20C>A) c.222+20C>A (n.222+20C>A) c.561+20C>A (n.561+20C>A) | gnomAD v4 |
X | g.108573675T>A | CA2694411207 | COL4A5 | c.546+21T>A (n.546+21T>A) c.222+21T>A (n.222+21T>A) c.561+21T>A (n.561+21T>A) | gnomAD v4 |
X | g.108573675T>C | CA643749611 | COL4A5 | c.546+21T>C (n.546+21T>C) c.222+21T>C (n.222+21T>C) c.561+21T>C (n.561+21T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108573675T= | CA2450680788 | COL4A5 | c.546+21T= (n.546+21T=) c.222+21T= (n.222+21T=) c.561+21T= (n.561+21T=) | |
X | g.108573681dup | CA2694411205 | COL4A5 | c.546+27dup (n.546+27dup) c.222+27dup (n.222+27dup) c.561+27dup (n.561+27dup) | gnomAD v4 |
X | g.108573680_108573681dup | CA2822894013 | COL4A5 | c.546+26_546+27dup (n.546+26_546+27dup) c.222+26_222+27dup (n.222+26_222+27dup) c.561+26_561+27dup (n.561+26_561+27dup) | |
X | g.108573681del | CA2694411206 | COL4A5 | c.546+27del (n.546+27del) c.222+27del (n.222+27del) c.561+27del (n.561+27del) | gnomAD v4 |
X | g.108573676T>C | CA2694411213 | COL4A5 | c.546+22T>C (n.546+22T>C) c.222+22T>C (n.222+22T>C) c.561+22T>C (n.561+22T>C) | gnomAD v4 |
X | g.108573677T>C | CA10488485 | COL4A5 | c.546+23T>C (n.546+23T>C) c.222+23T>C (n.222+23T>C) c.561+23T>C (n.561+23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108573677T= | CA2450680789 | COL4A5 | c.546+23T= (n.546+23T=) c.222+23T= (n.222+23T=) c.561+23T= (n.561+23T=) | |
X | g.108573681T>C | CA2694411216 | COL4A5 | c.546+27T>C (n.546+27T>C) c.222+27T>C (n.222+27T>C) c.561+27T>C (n.561+27T>C) | gnomAD v4 |
X | g.108573682del | CA2694411217 | COL4A5 | c.546+28del (n.546+28del) c.222+28del (n.222+28del) c.561+28del (n.561+28del) | gnomAD v4 |
X | g.108573683C>A | CA2579675878 | COL4A5 | c.546+29C>A (n.546+29C>A) c.222+29C>A (n.222+29C>A) c.561+29C>A (n.561+29C>A) | gnomAD v4 |
X | g.108573683C>T | CA2694411219 | COL4A5 | c.546+29C>T (n.546+29C>T) c.222+29C>T (n.222+29C>T) c.561+29C>T (n.561+29C>T) | gnomAD v4 |
X | g.108573685A= | CA2450680790 | COL4A5 | c.546+31A= (n.546+31A=) c.222+31A= (n.222+31A=) c.561+31A= (n.561+31A=) | |
X | g.108573685A>G | CA10488486 | COL4A5 | c.546+31A>G (n.546+31A>G) c.222+31A>G (n.222+31A>G) c.561+31A>G (n.561+31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573687A= | CA2450680791 | COL4A5 | c.546+33A= (n.546+33A=) c.222+33A= (n.222+33A=) c.561+33A= (n.561+33A=) | |
X | g.108573687A>G | CA10488487 | COL4A5 | c.546+33A>G (n.546+33A>G) c.222+33A>G (n.222+33A>G) c.561+33A>G (n.561+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108573687A>T | CA2694411225 | COL4A5 | c.546+33A>T (n.546+33A>T) c.222+33A>T (n.222+33A>T) c.561+33A>T (n.561+33A>T) | gnomAD v4 |
X | g.108573689T>C | CA10488488 | COL4A5 | c.546+35T>C (n.546+35T>C) c.222+35T>C (n.222+35T>C) c.561+35T>C (n.561+35T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573689T= | CA2450680792 | COL4A5 | c.546+35T= (n.546+35T=) c.222+35T= (n.222+35T=) c.561+35T= (n.561+35T=) | |
X | g.108573690G>A | CA2549835206 | COL4A5 | c.546+36G>A (n.546+36G>A) c.222+36G>A (n.222+36G>A) c.561+36G>A (n.561+36G>A) | |
X | g.108573690G>C | CA2571076488 | COL4A5 | c.546+36G>C (n.546+36G>C) c.222+36G>C (n.222+36G>C) c.561+36G>C (n.561+36G>C) | |
X | g.108573690G>T | CA2694411232 | COL4A5 | c.546+36G>T (n.546+36G>T) c.222+36G>T (n.222+36G>T) c.561+36G>T (n.561+36G>T) | gnomAD v4 |
X | g.108573691A= | CA2450680793 | COL4A5 | c.546+37A= (n.546+37A=) c.222+37A= (n.222+37A=) c.561+37A= (n.561+37A=) | |
X | g.108573691A>G | CA334179540 | COL4A5 | c.546+37A>G (n.546+37A>G) c.222+37A>G (n.222+37A>G) c.561+37A>G (n.561+37A>G) | dbSNP gnomAD v4 |
X | g.108573693T>A | CA2579675879 | COL4A5 | c.546+39T>A (n.546+39T>A) c.222+39T>A (n.222+39T>A) c.561+39T>A (n.561+39T>A) | |
X | g.108573696A= | CA2450680794 | COL4A5 | c.546+42A= (n.546+42A=) c.222+42A= (n.222+42A=) c.561+42A= (n.561+42A=) | |
X | g.108573696A>G | CA10488489 | COL4A5 | c.546+42A>G (n.546+42A>G) c.222+42A>G (n.222+42A>G) c.561+42A>G (n.561+42A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573697C>A | CA2579675880 | COL4A5 | c.546+43C>A (n.546+43C>A) c.222+43C>A (n.222+43C>A) c.561+43C>A (n.561+43C>A) | gnomAD v4 |
X | g.108573698C>A | CA2694411239 | COL4A5 | c.546+44C>A (n.546+44C>A) c.222+44C>A (n.222+44C>A) c.561+44C>A (n.561+44C>A) | gnomAD v4 |
X | g.108573699A= | CA2450680795 | COL4A5 | c.546+45A= (n.546+45A=) c.222+45A= (n.222+45A=) c.561+45A= (n.561+45A=) | |
X | g.108573699A>G | CA2579675881 | COL4A5 | c.546+45A>G (n.546+45A>G) c.222+45A>G (n.222+45A>G) c.561+45A>G (n.561+45A>G) | |
X | g.108573700G>A | CA2822894016 | COL4A5 | c.546+46G>A (n.546+46G>A) c.222+46G>A (n.222+46G>A) c.561+46G>A (n.561+46G>A) | |
X | g.108573702_108573703insAAATGATCTGAA | CA10488490 | COL4A5 | c.546+48_546+49insAAATGATCTGAA (n.546+48_546+49insAAATGATCTGAA) c.222+48_222+49insAAATGATCTGAA (n.222+48_222+49insAAATGATCTGAA) c.561+48_561+49insAAATGATCTGAA (n.561+48_561+49insAAATGATCTGAA) | dbSNP ExAC |
X | g.108573701A= | CA2450680796 | COL4A5 | c.546+47A= (n.546+47A=) c.222+47A= (n.222+47A=) c.561+47A= (n.561+47A=) | |
X | g.108573701A>G | CA643749612 | COL4A5 | c.546+47A>G (n.546+47A>G) c.222+47A>G (n.222+47A>G) c.561+47A>G (n.561+47A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108573701_108573702insCACACCCAACAC | CA2822894017 | COL4A5 | c.546+47_546+48insCACACCCAACAC (n.546+47_546+48insCACACCCAACAC) c.222+47_222+48insCACACCCAACAC (n.222+47_222+48insCACACCCAACAC) c.561+47_561+48insCACACCCAACAC (n.561+47_561+48insCACACCCAACAC) | |
X | g.108573704A>T | CA2694411241 | COL4A5 | c.546+50A>T (n.546+50A>T) c.222+50A>T (n.222+50A>T) c.561+50A>T (n.561+50A>T) | gnomAD v4 |
X | g.108573705T>C | CA2822894018 | COL4A5 | c.546+51T>C (n.546+51T>C) c.222+51T>C (n.222+51T>C) c.561+51T>C (n.561+51T>C) | |
X | g.108573706T>C | CA2579675882 | COL4A5 | c.546+52T>C (n.546+52T>C) c.222+52T>C (n.222+52T>C) c.561+52T>C (n.561+52T>C) | |
X | g.108573707A>T | CA2579675883 | COL4A5 | c.546+53A>T (n.546+53A>T) c.222+53A>T (n.222+53A>T) c.561+53A>T (n.561+53A>T) | |
X | g.108573708C>A | CA2579675884 | COL4A5 | c.546+54C>A (n.546+54C>A) c.222+54C>A (n.222+54C>A) c.561+54C>A (n.561+54C>A) | gnomAD v4 |
X | g.108573708C= | CA2450680797 | COL4A5 | c.546+54C= (n.546+54C=) c.222+54C= (n.222+54C=) c.561+54C= (n.561+54C=) | |
X | g.108573708C>T | CA334179545 | COL4A5 | c.546+54C>T (n.546+54C>T) c.222+54C>T (n.222+54C>T) c.561+54C>T (n.561+54C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573709A>C | CA2694411246 | COL4A5 | c.546+55A>C (n.546+55A>C) c.222+55A>C (n.222+55A>C) c.561+55A>C (n.561+55A>C) | gnomAD v4 |
X | g.108573710A>G | CA2694411248 | COL4A5 | c.546+56A>G (n.546+56A>G) c.222+56A>G (n.222+56A>G) c.561+56A>G (n.561+56A>G) | gnomAD v4 |
X | g.108573711C>A | CA2579675885 | COL4A5 | c.546+57C>A (n.546+57C>A) c.222+57C>A (n.222+57C>A) c.561+57C>A (n.561+57C>A) | gnomAD v4 |
X | g.108573712A>C | CA2694411249 | COL4A5 | c.546+58A>C (n.546+58A>C) c.222+58A>C (n.222+58A>C) c.561+58A>C (n.561+58A>C) | gnomAD v4 |
X | g.108573714T>C | CA2694411250 | COL4A5 | c.546+60T>C (n.546+60T>C) c.222+60T>C (n.222+60T>C) c.561+60T>C (n.561+60T>C) | dbSNP gnomAD v4 |
X | g.108573715C>A | CA2579675886 | COL4A5 | c.546+61C>A (n.546+61C>A) c.222+61C>A (n.222+61C>A) c.561+61C>A (n.561+61C>A) | gnomAD v4 |
X | g.108573715C= | CA2450680798 | COL4A5 | c.546+61C= (n.546+61C=) c.222+61C= (n.222+61C=) c.561+61C= (n.561+61C=) | |
X | g.108573715C>T | CA869820159 | COL4A5 | c.546+61C>T (n.546+61C>T) c.222+61C>T (n.222+61C>T) c.561+61C>T (n.561+61C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573716C>A | CA2694411257 | COL4A5 | c.546+62C>A (n.546+62C>A) c.222+62C>A (n.222+62C>A) c.561+62C>A (n.561+62C>A) | gnomAD v4 |
X | g.108573717C>T | CA2694411260 | COL4A5 | c.546+63C>T (n.546+63C>T) c.222+63C>T (n.222+63C>T) c.561+63C>T (n.561+63C>T) | gnomAD v4 |
X | g.108573718T>C | CA2694411261 | COL4A5 | c.546+64T>C (n.546+64T>C) c.222+64T>C (n.222+64T>C) c.561+64T>C (n.561+64T>C) | gnomAD v4 |
X | g.108573719C>A | CA2579675887 | COL4A5 | c.546+65C>A (n.546+65C>A) c.222+65C>A (n.222+65C>A) c.561+65C>A (n.561+65C>A) | |
X | g.108573719C>T | CA2694411263 | COL4A5 | c.546+65C>T (n.546+65C>T) c.222+65C>T (n.222+65C>T) c.561+65C>T (n.561+65C>T) | gnomAD v4 |
X | g.108573721A>G | CA2579675888 | COL4A5 | c.546+67A>G (n.546+67A>G) c.222+67A>G (n.222+67A>G) c.561+67A>G (n.561+67A>G) | |
X | g.108573722C>A | CA2579675889 | COL4A5 | c.546+68C>A (n.546+68C>A) c.222+68C>A (n.222+68C>A) c.561+68C>A (n.561+68C>A) | gnomAD v4 |
X | g.108573723C>A | CA2694411265 | COL4A5 | c.546+69C>A (n.546+69C>A) c.222+69C>A (n.222+69C>A) c.561+69C>A (n.561+69C>A) | gnomAD v4 |
X | g.108573726del | CA2579675890 | COL4A5 | c.546+72del (n.546+72del) c.222+72del (n.222+72del) c.561+72del (n.561+72del) |