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.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.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 |