UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108687510_108687545dup | CA259023 | COL4A5 | c.4344_4379dup (p.Gly1460_Thr1461insProAspGlyLeuGlnGlyProProGlyProProGly) c.4326_4361dup (p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyProProGly) n.838_873dup c.140_175dup c.4335_4370dup (p.Gly1457_Thr1458insProAspGlyLeuGlnGlyProProGlyProProGly) c.4020_4055dup (p.Gly1352_Thr1353insProAspGlyLeuGlnGlyProProGlyProProGly) c.1917_1952dup (p.Gly651_Thr652insProAspGlyLeuGlnGlyProProGlyProProGly) c.4359_4394dup (p.Gly1465_Thr1466insProAspGlyLeuGlnGlyProProGlyProProGly) c.4350_4385dup (p.Gly1462_Thr1463insProAspGlyLeuGlnGlyProProGlyProProGly) c.4341_4376dup (p.Gly1459_Thr1460insProAspGlyLeuGlnGlyProProGlyProProGly) c.2679_2714dup (p.Gly905_Thr906insProAspGlyLeuGlnGlyProProGlyProProGly) | dbSNP |
| X | g.108687507_108687534delinsTGGTCCAGATGGATTGCAAGGTCCCCCA | CA2450719217 | COL4A5 | c.4341_4368delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1447=) c.4323_4350delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1441=) n.835_862delinsTGGTCCAGATGGATTGCAAGGTCCCCCA c.137_164delinsTGGTCCAGATGGATTGCAAGGTCCCCCA c.4332_4359delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1444=) c.4017_4044delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1339=) c.1914_1941delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro638=) c.4356_4383delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1452=) c.4347_4374delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1449=) c.4338_4365delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1446=) c.2676_2703delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro892=) | |
| X | g.108687513_108687539del | CA259030 | COL4A5 | c.4347_4373del (p.Asp1450_Pro1458del) c.4329_4355del (p.Asp1444_Pro1452del) n.841_867del c.143_169del c.4338_4364del (p.Asp1447_Pro1455del) c.4023_4049del (p.Asp1342_Pro1350del) c.1920_1946del (p.Asp641_Pro649del) c.4362_4388del (p.Asp1455_Pro1463del) c.4353_4379del (p.Asp1452_Pro1460del) c.4344_4370del (p.Asp1449_Pro1457del) c.2682_2708del (p.Asp895_Pro903del) | dbSNP |
| X | g.108687533del | CA259045 | COL4A5 | c.4367del (p.Pro1456GlnfsTer?) c.4349del (p.Pro1450GlnfsTer?) n.861del c.163del c.4358del (p.Pro1453GlnfsTer?) c.4043del (p.Pro1348GlnfsTer?) c.1940del (p.Pro647GlnfsTer?) c.4382del (p.Pro1461GlnfsTer?) c.4373del (p.Pro1458GlnfsTer?) c.4364del (p.Pro1455GlnfsTer?) c.2702del (p.Pro901GlnfsTer?) | dbSNP |
| X | g.108687532C>A | CA413854081 | COL4A5 | c.4366C>A (p.Pro1456Thr) c.4348C>A (p.Pro1450Thr) n.860C>A c.162C>A c.4357C>A (p.Pro1453Thr) c.4042C>A (p.Pro1348Thr) c.1939C>A (p.Pro647Thr) c.4381C>A (p.Pro1461Thr) c.4372C>A (p.Pro1458Thr) c.4363C>A (p.Pro1455Thr) c.2701C>A (p.Pro901Thr) | |
| X | g.108687532C>G | CA413854083 | COL4A5 | c.4366C>G (p.Pro1456Ala) c.4348C>G (p.Pro1450Ala) n.860C>G c.162C>G c.4357C>G (p.Pro1453Ala) c.4042C>G (p.Pro1348Ala) c.1939C>G (p.Pro647Ala) c.4381C>G (p.Pro1461Ala) c.4372C>G (p.Pro1458Ala) c.4363C>G (p.Pro1455Ala) c.2701C>G (p.Pro901Ala) | COSMIC COSMIC |
| X | g.108687532C>T | CA413854085 | COL4A5 | c.4366C>T (p.Pro1456Ser) c.4348C>T (p.Pro1450Ser) n.860C>T c.162C>T c.4357C>T (p.Pro1453Ser) c.4042C>T (p.Pro1348Ser) c.1939C>T (p.Pro647Ser) c.4381C>T (p.Pro1461Ser) c.4372C>T (p.Pro1458Ser) c.4363C>T (p.Pro1455Ser) c.2701C>T (p.Pro901Ser) | |
| X | g.108687533C>A | CA413854090 | COL4A5 | c.4367C>A (p.Pro1456Gln) c.4349C>A (p.Pro1450Gln) n.861C>A c.163C>A c.4358C>A (p.Pro1453Gln) c.4043C>A (p.Pro1348Gln) c.1940C>A (p.Pro647Gln) c.4382C>A (p.Pro1461Gln) c.4373C>A (p.Pro1458Gln) c.4364C>A (p.Pro1455Gln) c.2702C>A (p.Pro901Gln) | |
| X | g.108687533C>G | CA413854089 | COL4A5 | c.4367C>G (p.Pro1456Arg) c.4349C>G (p.Pro1450Arg) n.861C>G c.163C>G c.4358C>G (p.Pro1453Arg) c.4043C>G (p.Pro1348Arg) c.1940C>G (p.Pro647Arg) c.4382C>G (p.Pro1461Arg) c.4373C>G (p.Pro1458Arg) c.4364C>G (p.Pro1455Arg) c.2702C>G (p.Pro901Arg) | gnomAD v4 |
| X | g.108687533C>T | CA413854087 | COL4A5 | c.4367C>T (p.Pro1456Leu) c.4349C>T (p.Pro1450Leu) n.861C>T c.163C>T c.4358C>T (p.Pro1453Leu) c.4043C>T (p.Pro1348Leu) c.1940C>T (p.Pro647Leu) c.4382C>T (p.Pro1461Leu) c.4373C>T (p.Pro1458Leu) c.4364C>T (p.Pro1455Leu) c.2702C>T (p.Pro901Leu) | |
| X | g.108687534A>C | CA517924486 | COL4A5 | c.4368A>C (p.Pro1456=) c.4350A>C (p.Pro1450=) n.862A>C c.164A>C c.4359A>C (p.Pro1453=) c.4044A>C (p.Pro1348=) c.1941A>C (p.Pro647=) c.4383A>C (p.Pro1461=) c.4374A>C (p.Pro1458=) c.4365A>C (p.Pro1455=) c.2703A>C (p.Pro901=) | ClinVar dbSNP |
| X | g.108687534A>G | CA517924487 | COL4A5 | c.4368A>G (p.Pro1456=) c.4350A>G (p.Pro1450=) n.862A>G c.164A>G c.4359A>G (p.Pro1453=) c.4044A>G (p.Pro1348=) c.1941A>G (p.Pro647=) c.4383A>G (p.Pro1461=) c.4374A>G (p.Pro1458=) c.4365A>G (p.Pro1455=) c.2703A>G (p.Pro901=) | |
| X | g.108687534A>T | CA517924488 | COL4A5 | c.4368A>T (p.Pro1456=) c.4350A>T (p.Pro1450=) n.862A>T c.164A>T c.4359A>T (p.Pro1453=) c.4044A>T (p.Pro1348=) c.1941A>T (p.Pro647=) c.4383A>T (p.Pro1461=) c.4374A>T (p.Pro1458=) c.4365A>T (p.Pro1455=) c.2703A>T (p.Pro901=) | gnomAD v4 |
| X | g.108687535G>A | CA259033 | COL4A5 | c.4369G>A (p.Gly1457Ser) c.4351G>A (p.Gly1451Ser) n.863G>A c.165G>A c.4360G>A (p.Gly1454Ser) c.4045G>A (p.Gly1349Ser) c.1942G>A (p.Gly648Ser) c.4384G>A (p.Gly1462Ser) c.4375G>A (p.Gly1459Ser) c.4366G>A (p.Gly1456Ser) c.2704G>A (p.Gly902Ser) | dbSNP |
| X | g.108687535G>C | CA413854092 | COL4A5 | c.4369G>C (p.Gly1457Arg) c.4351G>C (p.Gly1451Arg) n.863G>C c.165G>C c.4360G>C (p.Gly1454Arg) c.4045G>C (p.Gly1349Arg) c.1942G>C (p.Gly648Arg) c.4384G>C (p.Gly1462Arg) c.4375G>C (p.Gly1459Arg) c.4366G>C (p.Gly1456Arg) c.2704G>C (p.Gly902Arg) | |
| X | g.108687535G= | CA2450719245 | COL4A5 | c.4369G= (p.Gly1457=) c.4351G= (p.Gly1451=) n.863G= c.165G= c.4360G= (p.Gly1454=) c.4045G= (p.Gly1349=) c.1942G= (p.Gly648=) c.4384G= (p.Gly1462=) c.4375G= (p.Gly1459=) c.4366G= (p.Gly1456=) c.2704G= (p.Gly902=) | |
| X | g.108687535G>T | CA413854094 | COL4A5 | c.4369G>T (p.Gly1457Cys) c.4351G>T (p.Gly1451Cys) n.863G>T c.165G>T c.4360G>T (p.Gly1454Cys) c.4045G>T (p.Gly1349Cys) c.1942G>T (p.Gly648Cys) c.4384G>T (p.Gly1462Cys) c.4375G>T (p.Gly1459Cys) c.4366G>T (p.Gly1456Cys) c.2704G>T (p.Gly902Cys) | |
| X | g.108687536G>A | CA413854096 | COL4A5 | c.4370G>A (p.Gly1457Asp) c.4352G>A (p.Gly1451Asp) n.864G>A c.166G>A c.4361G>A (p.Gly1454Asp) c.4046G>A (p.Gly1349Asp) c.1943G>A (p.Gly648Asp) c.4385G>A (p.Gly1462Asp) c.4376G>A (p.Gly1459Asp) c.4367G>A (p.Gly1456Asp) c.2705G>A (p.Gly902Asp) | gnomAD v4 |
| X | g.108687536G>C | CA413854097 | COL4A5 | c.4370G>C (p.Gly1457Ala) c.4352G>C (p.Gly1451Ala) n.864G>C c.166G>C c.4361G>C (p.Gly1454Ala) c.4046G>C (p.Gly1349Ala) c.1943G>C (p.Gly648Ala) c.4385G>C (p.Gly1462Ala) c.4376G>C (p.Gly1459Ala) c.4367G>C (p.Gly1456Ala) c.2705G>C (p.Gly902Ala) | |
| X | g.108687536G= | CA2450719248 | COL4A5 | c.4370G= (p.Gly1457=) c.4352G= (p.Gly1451=) n.864G= c.166G= c.4361G= (p.Gly1454=) c.4046G= (p.Gly1349=) c.1943G= (p.Gly648=) c.4385G= (p.Gly1462=) c.4376G= (p.Gly1459=) c.4367G= (p.Gly1456=) c.2705G= (p.Gly902=) | |
| X | g.108687536G>T | CA413854099 | COL4A5 | c.4370G>T (p.Gly1457Val) c.4352G>T (p.Gly1451Val) n.864G>T c.166G>T c.4361G>T (p.Gly1454Val) c.4046G>T (p.Gly1349Val) c.1943G>T (p.Gly648Val) c.4385G>T (p.Gly1462Val) c.4376G>T (p.Gly1459Val) c.4367G>T (p.Gly1456Val) c.2705G>T (p.Gly902Val) | |
| X | g.108687537T>A | CA517924495 | COL4A5 | c.4371T>A (p.Gly1457=) c.4353T>A (p.Gly1451=) n.865T>A c.167T>A c.4362T>A (p.Gly1454=) c.4047T>A (p.Gly1349=) c.1944T>A (p.Gly648=) c.4386T>A (p.Gly1462=) c.4377T>A (p.Gly1459=) c.4368T>A (p.Gly1456=) c.2706T>A (p.Gly902=) | |
| X | g.108687537T>C | CA517924496 | COL4A5 | c.4371T>C (p.Gly1457=) c.4353T>C (p.Gly1451=) n.865T>C c.167T>C c.4362T>C (p.Gly1454=) c.4047T>C (p.Gly1349=) c.1944T>C (p.Gly648=) c.4386T>C (p.Gly1462=) c.4377T>C (p.Gly1459=) c.4368T>C (p.Gly1456=) c.2706T>C (p.Gly902=) | gnomAD v4 |
| X | g.108687537T>G | CA517924497 | COL4A5 | c.4371T>G (p.Gly1457=) c.4353T>G (p.Gly1451=) n.865T>G c.167T>G c.4362T>G (p.Gly1454=) c.4047T>G (p.Gly1349=) c.1944T>G (p.Gly648=) c.4386T>G (p.Gly1462=) c.4377T>G (p.Gly1459=) c.4368T>G (p.Gly1456=) c.2706T>G (p.Gly902=) | ClinVar gnomAD v4 |
| X | g.108687537T= | CA2450719249 | COL4A5 | c.4371T= (p.Gly1457=) c.4353T= (p.Gly1451=) n.865T= c.167T= c.4362T= (p.Gly1454=) c.4047T= (p.Gly1349=) c.1944T= (p.Gly648=) c.4386T= (p.Gly1462=) c.4377T= (p.Gly1459=) c.4368T= (p.Gly1456=) c.2706T= (p.Gly902=) | |
| X | g.108687538C>A | CA413854101 | COL4A5 | c.4372C>A (p.Pro1458Thr) c.4354C>A (p.Pro1452Thr) n.866C>A c.168C>A c.4363C>A (p.Pro1455Thr) c.4048C>A (p.Pro1350Thr) c.1945C>A (p.Pro649Thr) c.4387C>A (p.Pro1463Thr) c.4378C>A (p.Pro1460Thr) c.4369C>A (p.Pro1457Thr) c.2707C>A (p.Pro903Thr) | |
| X | g.108687538C= | CA2450719252 | COL4A5 | c.4372C= (p.Pro1458=) c.4354C= (p.Pro1452=) n.866C= c.168C= c.4363C= (p.Pro1455=) c.4048C= (p.Pro1350=) c.1945C= (p.Pro649=) c.4387C= (p.Pro1463=) c.4378C= (p.Pro1460=) c.4369C= (p.Pro1457=) c.2707C= (p.Pro903=) | |
| X | g.108687538C>G | CA413854103 | COL4A5 | c.4372C>G (p.Pro1458Ala) c.4354C>G (p.Pro1452Ala) n.866C>G c.168C>G c.4363C>G (p.Pro1455Ala) c.4048C>G (p.Pro1350Ala) c.1945C>G (p.Pro649Ala) c.4387C>G (p.Pro1463Ala) c.4378C>G (p.Pro1460Ala) c.4369C>G (p.Pro1457Ala) c.2707C>G (p.Pro903Ala) | |
| X | g.108687538C>T | CA413854102 | COL4A5 | c.4372C>T (p.Pro1458Ser) c.4354C>T (p.Pro1452Ser) n.866C>T c.168C>T c.4363C>T (p.Pro1455Ser) c.4048C>T (p.Pro1350Ser) c.1945C>T (p.Pro649Ser) c.4387C>T (p.Pro1463Ser) c.4378C>T (p.Pro1460Ser) c.4369C>T (p.Pro1457Ser) c.2707C>T (p.Pro903Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.108687542dup | CA2450719251 | COL4A5 | c.4376dup (p.Gly1460TrpfsTer?) c.4358dup (p.Gly1454TrpfsTer?) n.870dup c.172dup c.4367dup (p.Gly1457TrpfsTer?) c.4052dup (p.Gly1352TrpfsTer?) c.1949dup (p.Gly651TrpfsTer?) c.4391dup (p.Gly1465TrpfsTer?) c.4382dup (p.Gly1462TrpfsTer?) c.4373dup (p.Gly1459TrpfsTer?) c.2711dup (p.Gly905TrpfsTer?) | ClinVar dbSNP |
| X | g.108687542del | CA2579677161 | COL4A5 | c.4376del (p.Pro1459LeufsTer?) c.4358del (p.Pro1453LeufsTer?) n.870del c.172del c.4367del (p.Pro1456LeufsTer?) c.4052del (p.Pro1351LeufsTer?) c.1949del (p.Pro650LeufsTer?) c.4391del (p.Pro1464LeufsTer?) c.4382del (p.Pro1461LeufsTer?) c.4373del (p.Pro1458LeufsTer?) c.2711del (p.Pro904LeufsTer?) | |
| X | g.108687539C>A | CA413854104 | COL4A5 | c.4373C>A (p.Pro1458His) c.4355C>A (p.Pro1452His) n.867C>A c.169C>A c.4364C>A (p.Pro1455His) c.4049C>A (p.Pro1350His) c.1946C>A (p.Pro649His) c.4388C>A (p.Pro1463His) c.4379C>A (p.Pro1460His) c.4370C>A (p.Pro1457His) c.2708C>A (p.Pro903His) | |
| X | g.108687539C>G | CA413854105 | COL4A5 | c.4373C>G (p.Pro1458Arg) c.4355C>G (p.Pro1452Arg) n.867C>G c.169C>G c.4364C>G (p.Pro1455Arg) c.4049C>G (p.Pro1350Arg) c.1946C>G (p.Pro649Arg) c.4388C>G (p.Pro1463Arg) c.4379C>G (p.Pro1460Arg) c.4370C>G (p.Pro1457Arg) c.2708C>G (p.Pro903Arg) | |
| X | g.108687539C>T | CA413854106 | COL4A5 | c.4373C>T (p.Pro1458Leu) c.4355C>T (p.Pro1452Leu) n.867C>T c.169C>T c.4364C>T (p.Pro1455Leu) c.4049C>T (p.Pro1350Leu) c.1946C>T (p.Pro649Leu) c.4388C>T (p.Pro1463Leu) c.4379C>T (p.Pro1460Leu) c.4370C>T (p.Pro1457Leu) c.2708C>T (p.Pro903Leu) | gnomAD v4 |
| X | g.108687540C>A | CA517924504 | COL4A5 | c.4374C>A (p.Pro1458=) c.4356C>A (p.Pro1452=) n.868C>A c.170C>A c.4365C>A (p.Pro1455=) c.4050C>A (p.Pro1350=) c.1947C>A (p.Pro649=) c.4389C>A (p.Pro1463=) c.4380C>A (p.Pro1460=) c.4371C>A (p.Pro1457=) c.2709C>A (p.Pro903=) | |
| X | g.108687540C>G | CA517924508 | COL4A5 | c.4374C>G (p.Pro1458=) c.4356C>G (p.Pro1452=) n.868C>G c.170C>G c.4365C>G (p.Pro1455=) c.4050C>G (p.Pro1350=) c.1947C>G (p.Pro649=) c.4389C>G (p.Pro1463=) c.4380C>G (p.Pro1460=) c.4371C>G (p.Pro1457=) c.2709C>G (p.Pro903=) | |
| X | g.108687540C>T | CA517924505 | COL4A5 | c.4374C>T (p.Pro1458=) c.4356C>T (p.Pro1452=) n.868C>T c.170C>T c.4365C>T (p.Pro1455=) c.4050C>T (p.Pro1350=) c.1947C>T (p.Pro649=) c.4389C>T (p.Pro1463=) c.4380C>T (p.Pro1460=) c.4371C>T (p.Pro1457=) c.2709C>T (p.Pro903=) | ClinVar dbSNP |
| X | g.108687541C>A | CA413854107 | COL4A5 | c.4375C>A (p.Pro1459Thr) c.4357C>A (p.Pro1453Thr) n.869C>A c.171C>A c.4366C>A (p.Pro1456Thr) c.4051C>A (p.Pro1351Thr) c.1948C>A (p.Pro650Thr) c.4390C>A (p.Pro1464Thr) c.4381C>A (p.Pro1461Thr) c.4372C>A (p.Pro1458Thr) c.2710C>A (p.Pro904Thr) | COSMIC COSMIC |
| X | g.108687541C>G | CA413854108 | COL4A5 | c.4375C>G (p.Pro1459Ala) c.4357C>G (p.Pro1453Ala) n.869C>G c.171C>G c.4366C>G (p.Pro1456Ala) c.4051C>G (p.Pro1351Ala) c.1948C>G (p.Pro650Ala) c.4390C>G (p.Pro1464Ala) c.4381C>G (p.Pro1461Ala) c.4372C>G (p.Pro1458Ala) c.2710C>G (p.Pro904Ala) | |
| X | g.108687541C>T | CA413854109 | COL4A5 | c.4375C>T (p.Pro1459Ser) c.4357C>T (p.Pro1453Ser) n.869C>T c.171C>T c.4366C>T (p.Pro1456Ser) c.4051C>T (p.Pro1351Ser) c.1948C>T (p.Pro650Ser) c.4390C>T (p.Pro1464Ser) c.4381C>T (p.Pro1461Ser) c.4372C>T (p.Pro1458Ser) c.2710C>T (p.Pro904Ser) | |
| X | g.108687542C>A | CA413854111 | COL4A5 | c.4376C>A (p.Pro1459His) c.4358C>A (p.Pro1453His) n.870C>A c.172C>A c.4367C>A (p.Pro1456His) c.4052C>A (p.Pro1351His) c.1949C>A (p.Pro650His) c.4391C>A (p.Pro1464His) c.4382C>A (p.Pro1461His) c.4373C>A (p.Pro1458His) c.2711C>A (p.Pro904His) | |
| X | g.108687542C>G | CA413854112 | COL4A5 | c.4376C>G (p.Pro1459Arg) c.4358C>G (p.Pro1453Arg) n.870C>G c.172C>G c.4367C>G (p.Pro1456Arg) c.4052C>G (p.Pro1351Arg) c.1949C>G (p.Pro650Arg) c.4391C>G (p.Pro1464Arg) c.4382C>G (p.Pro1461Arg) c.4373C>G (p.Pro1458Arg) c.2711C>G (p.Pro904Arg) | |
| X | g.108687542C>T | CA413854115 | COL4A5 | c.4376C>T (p.Pro1459Leu) c.4358C>T (p.Pro1453Leu) n.870C>T c.172C>T c.4367C>T (p.Pro1456Leu) c.4052C>T (p.Pro1351Leu) c.1949C>T (p.Pro650Leu) c.4391C>T (p.Pro1464Leu) c.4382C>T (p.Pro1461Leu) c.4373C>T (p.Pro1458Leu) c.2711C>T (p.Pro904Leu) | |
| X | g.108687542_108687543delinsCT | CA2450719253 | COL4A5 | c.4376_4377delinsCT (p.Pro1459=) c.4358_4359delinsCT (p.Pro1453=) n.870_871delinsCT c.172_173delinsCT c.4367_4368delinsCT (p.Pro1456=) c.4052_4053delinsCT (p.Pro1351=) c.1949_1950delinsCT (p.Pro650=) c.4391_4392delinsCT (p.Pro1464=) c.4382_4383delinsCT (p.Pro1461=) c.4373_4374delinsCT (p.Pro1458=) c.2711_2712delinsCT (p.Pro904=) | |
| X | g.108687543del | CA915951311 | COL4A5 | c.4377del (p.Gly1460GlufsTer?) c.4359del (p.Gly1454GlufsTer?) n.871del c.173del c.4368del (p.Gly1457GlufsTer?) c.4053del (p.Gly1352GlufsTer?) c.1950del (p.Gly651GlufsTer?) c.4392del (p.Gly1465GlufsTer?) c.4383del (p.Gly1462GlufsTer?) c.4374del (p.Gly1459GlufsTer?) c.2712del (p.Gly905GlufsTer?) | ClinVar dbSNP |
| X | g.108687543T>A | CA517924513 | COL4A5 | c.4377T>A (p.Pro1459=) c.4359T>A (p.Pro1453=) n.871T>A c.173T>A c.4368T>A (p.Pro1456=) c.4053T>A (p.Pro1351=) c.1950T>A (p.Pro650=) c.4392T>A (p.Pro1464=) c.4383T>A (p.Pro1461=) c.4374T>A (p.Pro1458=) c.2712T>A (p.Pro904=) | COSMIC COSMIC |
| X | g.108687543T>C | CA517924515 | COL4A5 | c.4377T>C (p.Pro1459=) c.4359T>C (p.Pro1453=) n.871T>C c.173T>C c.4368T>C (p.Pro1456=) c.4053T>C (p.Pro1351=) c.1950T>C (p.Pro650=) c.4392T>C (p.Pro1464=) c.4383T>C (p.Pro1461=) c.4374T>C (p.Pro1458=) c.2712T>C (p.Pro904=) | |
| X | g.108687543T>G | CA517924516 | COL4A5 | c.4377T>G (p.Pro1459=) c.4359T>G (p.Pro1453=) n.871T>G c.173T>G c.4368T>G (p.Pro1456=) c.4053T>G (p.Pro1351=) c.1950T>G (p.Pro650=) c.4392T>G (p.Pro1464=) c.4383T>G (p.Pro1461=) c.4374T>G (p.Pro1458=) c.2712T>G (p.Pro904=) | |
| X | g.108687544G>A | CA413854117 | COL4A5 | c.4378G>A (p.Gly1460Arg) c.4360G>A (p.Gly1454Arg) n.872G>A c.174G>A c.4369G>A (p.Gly1457Arg) c.4054G>A (p.Gly1352Arg) c.1951G>A (p.Gly651Arg) c.4393G>A (p.Gly1465Arg) c.4384G>A (p.Gly1462Arg) c.4375G>A (p.Gly1459Arg) c.2713G>A (p.Gly905Arg) | |
| X | g.108687544G>C | CA413854118 | COL4A5 | c.4378G>C (p.Gly1460Arg) c.4360G>C (p.Gly1454Arg) n.872G>C c.174G>C c.4369G>C (p.Gly1457Arg) c.4054G>C (p.Gly1352Arg) c.1951G>C (p.Gly651Arg) c.4393G>C (p.Gly1465Arg) c.4384G>C (p.Gly1462Arg) c.4375G>C (p.Gly1459Arg) c.2713G>C (p.Gly905Arg) |