Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108680912G>A | CA413851147 | COL4A5 | c.4043G>A (p.Gly1348Glu) c.4025G>A (p.Gly1342Glu) n.537G>A n.446G>A c.4034G>A (p.Gly1345Glu) c.3719G>A (p.Gly1240Glu) c.1616G>A (p.Gly539Glu) c.4058G>A (p.Gly1353Glu) c.4049G>A (p.Gly1350Glu) c.4040G>A (p.Gly1347Glu) c.2378G>A (p.Gly793Glu) | |
X | g.108680912G>C | CA413851148 | COL4A5 | c.4043G>C (p.Gly1348Ala) c.4025G>C (p.Gly1342Ala) n.537G>C n.446G>C c.4034G>C (p.Gly1345Ala) c.3719G>C (p.Gly1240Ala) c.1616G>C (p.Gly539Ala) c.4058G>C (p.Gly1353Ala) c.4049G>C (p.Gly1350Ala) c.4040G>C (p.Gly1347Ala) c.2378G>C (p.Gly793Ala) | |
X | g.108680912G>T | CA413851149 | COL4A5 | c.4043G>T (p.Gly1348Val) c.4025G>T (p.Gly1342Val) n.537G>T n.446G>T c.4034G>T (p.Gly1345Val) c.3719G>T (p.Gly1240Val) c.1616G>T (p.Gly539Val) c.4058G>T (p.Gly1353Val) c.4049G>T (p.Gly1350Val) c.4040G>T (p.Gly1347Val) c.2378G>T (p.Gly793Val) | |
X | g.108680913A>C | CA517923651 | COL4A5 | c.4044A>C (p.Gly1348=) c.4026A>C (p.Gly1342=) n.538A>C n.447A>C c.4035A>C (p.Gly1345=) c.3720A>C (p.Gly1240=) c.1617A>C (p.Gly539=) c.4059A>C (p.Gly1353=) c.4050A>C (p.Gly1350=) c.4041A>C (p.Gly1347=) c.2379A>C (p.Gly793=) | |
X | g.108680913A>G | CA517923652 | COL4A5 | c.4044A>G (p.Gly1348=) c.4026A>G (p.Gly1342=) n.538A>G n.447A>G c.4035A>G (p.Gly1345=) c.3720A>G (p.Gly1240=) c.1617A>G (p.Gly539=) c.4059A>G (p.Gly1353=) c.4050A>G (p.Gly1350=) c.4041A>G (p.Gly1347=) c.2379A>G (p.Gly793=) | |
X | g.108680913A>T | CA517923653 | COL4A5 | c.4044A>T (p.Gly1348=) c.4026A>T (p.Gly1342=) n.538A>T n.447A>T c.4035A>T (p.Gly1345=) c.3720A>T (p.Gly1240=) c.1617A>T (p.Gly539=) c.4059A>T (p.Gly1353=) c.4050A>T (p.Gly1350=) c.4041A>T (p.Gly1347=) c.2379A>T (p.Gly793=) | |
X | g.108680914T>A | CA413851152 | COL4A5 | c.4045T>A (p.Ser1349Thr) c.4027T>A (p.Ser1343Thr) n.539T>A n.448T>A c.4036T>A (p.Ser1346Thr) c.3721T>A (p.Ser1241Thr) c.1618T>A (p.Ser540Thr) c.4060T>A (p.Ser1354Thr) c.4051T>A (p.Ser1351Thr) c.4042T>A (p.Ser1348Thr) c.2380T>A (p.Ser794Thr) | |
X | g.108680914T>C | CA413851150 | COL4A5 | c.4045T>C (p.Ser1349Pro) c.4027T>C (p.Ser1343Pro) n.539T>C n.448T>C c.4036T>C (p.Ser1346Pro) c.3721T>C (p.Ser1241Pro) c.1618T>C (p.Ser540Pro) c.4060T>C (p.Ser1354Pro) c.4051T>C (p.Ser1351Pro) c.4042T>C (p.Ser1348Pro) c.2380T>C (p.Ser794Pro) | COSMIC COSMIC |
X | g.108680914T>G | CA413851151 | COL4A5 | c.4045T>G (p.Ser1349Ala) c.4027T>G (p.Ser1343Ala) n.539T>G n.448T>G c.4036T>G (p.Ser1346Ala) c.3721T>G (p.Ser1241Ala) c.1618T>G (p.Ser540Ala) c.4060T>G (p.Ser1354Ala) c.4051T>G (p.Ser1351Ala) c.4042T>G (p.Ser1348Ala) c.2380T>G (p.Ser794Ala) | |
X | g.108680915C>A | CA413851153 | COL4A5 | c.4046C>A (p.Ser1349Ter) c.4028C>A (p.Ser1343Ter) n.540C>A n.449C>A c.4037C>A (p.Ser1346Ter) c.3722C>A (p.Ser1241Ter) c.1619C>A (p.Ser540Ter) c.4061C>A (p.Ser1354Ter) c.4052C>A (p.Ser1351Ter) c.4043C>A (p.Ser1348Ter) c.2381C>A (p.Ser794Ter) | |
X | g.108680915C>G | CA413851154 | COL4A5 | c.4046C>G (p.Ser1349Ter) c.4028C>G (p.Ser1343Ter) n.540C>G n.449C>G c.4037C>G (p.Ser1346Ter) c.3722C>G (p.Ser1241Ter) c.1619C>G (p.Ser540Ter) c.4061C>G (p.Ser1354Ter) c.4052C>G (p.Ser1351Ter) c.4043C>G (p.Ser1348Ter) c.2381C>G (p.Ser794Ter) | |
X | g.108680915C>T | CA413851155 | COL4A5 | c.4046C>T (p.Ser1349Leu) c.4028C>T (p.Ser1343Leu) n.540C>T n.449C>T c.4037C>T (p.Ser1346Leu) c.3722C>T (p.Ser1241Leu) c.1619C>T (p.Ser540Leu) c.4061C>T (p.Ser1354Leu) c.4052C>T (p.Ser1351Leu) c.4043C>T (p.Ser1348Leu) c.2381C>T (p.Ser794Leu) | COSMIC COSMIC |
X | g.108680916A>C | CA517923654 | COL4A5 | c.4047A>C (p.Ser1349=) c.4029A>C (p.Ser1343=) n.541A>C n.450A>C c.4038A>C (p.Ser1346=) c.3723A>C (p.Ser1241=) c.1620A>C (p.Ser540=) c.4062A>C (p.Ser1354=) c.4053A>C (p.Ser1351=) c.4044A>C (p.Ser1348=) c.2382A>C (p.Ser794=) | |
X | g.108680916A>G | CA517923655 | COL4A5 | c.4047A>G (p.Ser1349=) c.4029A>G (p.Ser1343=) n.541A>G n.450A>G c.4038A>G (p.Ser1346=) c.3723A>G (p.Ser1241=) c.1620A>G (p.Ser540=) c.4062A>G (p.Ser1354=) c.4053A>G (p.Ser1351=) c.4044A>G (p.Ser1348=) c.2382A>G (p.Ser794=) | |
X | g.108680916A>T | CA517923656 | COL4A5 | c.4047A>T (p.Ser1349=) c.4029A>T (p.Ser1343=) n.541A>T n.450A>T c.4038A>T (p.Ser1346=) c.3723A>T (p.Ser1241=) c.1620A>T (p.Ser540=) c.4062A>T (p.Ser1354=) c.4053A>T (p.Ser1351=) c.4044A>T (p.Ser1348=) c.2382A>T (p.Ser794=) | |
X | g.108680917G>A | CA413851156 | COL4A5 | c.4048G>A (p.Ala1350Thr) c.4030G>A (p.Ala1344Thr) n.542G>A n.451G>A c.4039G>A (p.Ala1347Thr) c.3724G>A (p.Ala1242Thr) c.1621G>A (p.Ala541Thr) c.4063G>A (p.Ala1355Thr) c.4054G>A (p.Ala1352Thr) c.4045G>A (p.Ala1349Thr) c.2383G>A (p.Ala795Thr) | gnomAD v4 |
X | g.108680917G>C | CA413851157 | COL4A5 | c.4048G>C (p.Ala1350Pro) c.4030G>C (p.Ala1344Pro) n.542G>C n.451G>C c.4039G>C (p.Ala1347Pro) c.3724G>C (p.Ala1242Pro) c.1621G>C (p.Ala541Pro) c.4063G>C (p.Ala1355Pro) c.4054G>C (p.Ala1352Pro) c.4045G>C (p.Ala1349Pro) c.2383G>C (p.Ala795Pro) | |
X | g.108680917G>T | CA413851158 | COL4A5 | c.4048G>T (p.Ala1350Ser) c.4030G>T (p.Ala1344Ser) n.542G>T n.451G>T c.4039G>T (p.Ala1347Ser) c.3724G>T (p.Ala1242Ser) c.1621G>T (p.Ala541Ser) c.4063G>T (p.Ala1355Ser) c.4054G>T (p.Ala1352Ser) c.4045G>T (p.Ala1349Ser) c.2383G>T (p.Ala795Ser) | ClinVar COSMIC COSMIC |
X | g.108680918C>A | CA413851161 | COL4A5 | c.4049C>A (p.Ala1350Asp) c.4031C>A (p.Ala1344Asp) n.543C>A n.452C>A c.4040C>A (p.Ala1347Asp) c.3725C>A (p.Ala1242Asp) c.1622C>A (p.Ala541Asp) c.4064C>A (p.Ala1355Asp) c.4055C>A (p.Ala1352Asp) c.4046C>A (p.Ala1349Asp) c.2384C>A (p.Ala795Asp) | |
X | g.108680918C>G | CA413851160 | COL4A5 | c.4049C>G (p.Ala1350Gly) c.4031C>G (p.Ala1344Gly) n.543C>G n.452C>G c.4040C>G (p.Ala1347Gly) c.3725C>G (p.Ala1242Gly) c.1622C>G (p.Ala541Gly) c.4064C>G (p.Ala1355Gly) c.4055C>G (p.Ala1352Gly) c.4046C>G (p.Ala1349Gly) c.2384C>G (p.Ala795Gly) | |
X | g.108680918C>T | CA413851159 | COL4A5 | c.4049C>T (p.Ala1350Val) c.4031C>T (p.Ala1344Val) n.543C>T n.452C>T c.4040C>T (p.Ala1347Val) c.3725C>T (p.Ala1242Val) c.1622C>T (p.Ala541Val) c.4064C>T (p.Ala1355Val) c.4055C>T (p.Ala1352Val) c.4046C>T (p.Ala1349Val) c.2384C>T (p.Ala795Val) | gnomAD v4 |
X | g.108680919T>A | CA517923657 | COL4A5 | c.4050T>A (p.Ala1350=) c.4032T>A (p.Ala1344=) n.544T>A n.453T>A c.4041T>A (p.Ala1347=) c.3726T>A (p.Ala1242=) c.1623T>A (p.Ala541=) c.4065T>A (p.Ala1355=) c.4056T>A (p.Ala1352=) c.4047T>A (p.Ala1349=) c.2385T>A (p.Ala795=) | |
X | g.108680919T>C | CA517923658 | COL4A5 | c.4050T>C (p.Ala1350=) c.4032T>C (p.Ala1344=) n.544T>C n.453T>C c.4041T>C (p.Ala1347=) c.3726T>C (p.Ala1242=) c.1623T>C (p.Ala541=) c.4065T>C (p.Ala1355=) c.4056T>C (p.Ala1352=) c.4047T>C (p.Ala1349=) c.2385T>C (p.Ala795=) | ClinVar |
X | g.108680919T>G | CA517923659 | COL4A5 | c.4050T>G (p.Ala1350=) c.4032T>G (p.Ala1344=) n.544T>G n.453T>G c.4041T>G (p.Ala1347=) c.3726T>G (p.Ala1242=) c.1623T>G (p.Ala541=) c.4065T>G (p.Ala1355=) c.4056T>G (p.Ala1352=) c.4047T>G (p.Ala1349=) c.2385T>G (p.Ala795=) | |
X | g.108680920G>A | CA413851162 | COL4A5 | c.4051G>A (p.Gly1351Ser) c.4033G>A (p.Gly1345Ser) n.545G>A n.454G>A c.4042G>A (p.Gly1348Ser) c.3727G>A (p.Gly1243Ser) c.1624G>A (p.Gly542Ser) c.4066G>A (p.Gly1356Ser) c.4057G>A (p.Gly1353Ser) c.4048G>A (p.Gly1350Ser) c.2386G>A (p.Gly796Ser) | |
X | g.108680920G>C | CA413851163 | COL4A5 | c.4051G>C (p.Gly1351Arg) c.4033G>C (p.Gly1345Arg) n.545G>C n.454G>C c.4042G>C (p.Gly1348Arg) c.3727G>C (p.Gly1243Arg) c.1624G>C (p.Gly542Arg) c.4066G>C (p.Gly1356Arg) c.4057G>C (p.Gly1353Arg) c.4048G>C (p.Gly1350Arg) c.2386G>C (p.Gly796Arg) | |
X | g.108680920G>T | CA413851164 | COL4A5 | c.4051G>T (p.Gly1351Cys) c.4033G>T (p.Gly1345Cys) n.545G>T n.454G>T c.4042G>T (p.Gly1348Cys) c.3727G>T (p.Gly1243Cys) c.1624G>T (p.Gly542Cys) c.4066G>T (p.Gly1356Cys) c.4057G>T (p.Gly1353Cys) c.4048G>T (p.Gly1350Cys) c.2386G>T (p.Gly796Cys) | |
X | g.108680921del | CA2579677075 | COL4A5 | c.4052del (p.Gly1351AlafsTer26) c.4034del (p.Gly1345AlafsTer26) n.546del n.455del c.4043del (p.Gly1348AlafsTer26) c.3728del (p.Gly1243AlafsTer26) c.1625del (p.Gly542AlafsTer26) c.4067del (p.Gly1356AlafsTer26) c.4058del (p.Gly1353AlafsTer26) c.4049del (p.Gly1350AlafsTer26) c.2387del (p.Gly796AlafsTer26) | |
X | g.108680921G>A | CA413851165 | COL4A5 | c.4052G>A (p.Gly1351Asp) c.4034G>A (p.Gly1345Asp) n.546G>A n.455G>A c.4043G>A (p.Gly1348Asp) c.3728G>A (p.Gly1243Asp) c.1625G>A (p.Gly542Asp) c.4067G>A (p.Gly1356Asp) c.4058G>A (p.Gly1353Asp) c.4049G>A (p.Gly1350Asp) c.2387G>A (p.Gly796Asp) | |
X | g.108680921G>C | CA413851166 | COL4A5 | c.4052G>C (p.Gly1351Ala) c.4034G>C (p.Gly1345Ala) n.546G>C n.455G>C c.4043G>C (p.Gly1348Ala) c.3728G>C (p.Gly1243Ala) c.1625G>C (p.Gly542Ala) c.4067G>C (p.Gly1356Ala) c.4058G>C (p.Gly1353Ala) c.4049G>C (p.Gly1350Ala) c.2387G>C (p.Gly796Ala) | |
X | g.108680921G>T | CA413851167 | COL4A5 | c.4052G>T (p.Gly1351Val) c.4034G>T (p.Gly1345Val) n.546G>T n.455G>T c.4043G>T (p.Gly1348Val) c.3728G>T (p.Gly1243Val) c.1625G>T (p.Gly542Val) c.4067G>T (p.Gly1356Val) c.4058G>T (p.Gly1353Val) c.4049G>T (p.Gly1350Val) c.2387G>T (p.Gly796Val) | COSMIC COSMIC |
X | g.108680922C>A | CA517923660 | COL4A5 | c.4053C>A (p.Gly1351=) c.4035C>A (p.Gly1345=) n.547C>A n.456C>A c.4044C>A (p.Gly1348=) c.3729C>A (p.Gly1243=) c.1626C>A (p.Gly542=) c.4068C>A (p.Gly1356=) c.4059C>A (p.Gly1353=) c.4050C>A (p.Gly1350=) c.2388C>A (p.Gly796=) | |
X | g.108680922C>G | CA517923661 | COL4A5 | c.4053C>G (p.Gly1351=) c.4035C>G (p.Gly1345=) n.547C>G n.456C>G c.4044C>G (p.Gly1348=) c.3729C>G (p.Gly1243=) c.1626C>G (p.Gly542=) c.4068C>G (p.Gly1356=) c.4059C>G (p.Gly1353=) c.4050C>G (p.Gly1350=) c.2388C>G (p.Gly796=) | |
X | g.108680922C>T | CA517923662 | COL4A5 | c.4053C>T (p.Gly1351=) c.4035C>T (p.Gly1345=) n.547C>T n.456C>T c.4044C>T (p.Gly1348=) c.3729C>T (p.Gly1243=) c.1626C>T (p.Gly542=) c.4068C>T (p.Gly1356=) c.4059C>T (p.Gly1353=) c.4050C>T (p.Gly1350=) c.2388C>T (p.Gly796=) | |
X | g.108680924del | CA2573055066 | COL4A5 | c.4055del (p.Pro1352LeufsTer25) c.4037del (p.Pro1346LeufsTer25) n.549del n.458del c.4046del (p.Pro1349LeufsTer25) c.3731del (p.Pro1244LeufsTer25) c.1628del (p.Pro543LeufsTer25) c.4070del (p.Pro1357LeufsTer25) c.4061del (p.Pro1354LeufsTer25) c.4052del (p.Pro1351LeufsTer25) c.2390del (p.Pro797LeufsTer25) | ClinVar dbSNP |
X | g.108680923C>A | CA413851168 | COL4A5 | c.4054C>A (p.Pro1352Thr) c.4036C>A (p.Pro1346Thr) n.548C>A n.457C>A c.4045C>A (p.Pro1349Thr) c.3730C>A (p.Pro1244Thr) c.1627C>A (p.Pro543Thr) c.4069C>A (p.Pro1357Thr) c.4060C>A (p.Pro1354Thr) c.4051C>A (p.Pro1351Thr) c.2389C>A (p.Pro797Thr) | |
X | g.108680923C>G | CA413851170 | COL4A5 | c.4054C>G (p.Pro1352Ala) c.4036C>G (p.Pro1346Ala) n.548C>G n.457C>G c.4045C>G (p.Pro1349Ala) c.3730C>G (p.Pro1244Ala) c.1627C>G (p.Pro543Ala) c.4069C>G (p.Pro1357Ala) c.4060C>G (p.Pro1354Ala) c.4051C>G (p.Pro1351Ala) c.2389C>G (p.Pro797Ala) | |
X | g.108680923C>T | CA413851169 | COL4A5 | c.4054C>T (p.Pro1352Ser) c.4036C>T (p.Pro1346Ser) n.548C>T n.457C>T c.4045C>T (p.Pro1349Ser) c.3730C>T (p.Pro1244Ser) c.1627C>T (p.Pro543Ser) c.4069C>T (p.Pro1357Ser) c.4060C>T (p.Pro1354Ser) c.4051C>T (p.Pro1351Ser) c.2389C>T (p.Pro797Ser) | |
X | g.108680924C>A | CA413851171 | COL4A5 | c.4055C>A (p.Pro1352His) c.4037C>A (p.Pro1346His) n.549C>A n.458C>A c.4046C>A (p.Pro1349His) c.3731C>A (p.Pro1244His) c.1628C>A (p.Pro543His) c.4070C>A (p.Pro1357His) c.4061C>A (p.Pro1354His) c.4052C>A (p.Pro1351His) c.2390C>A (p.Pro797His) | |
X | g.108680924C>G | CA413851172 | COL4A5 | c.4055C>G (p.Pro1352Arg) c.4037C>G (p.Pro1346Arg) n.549C>G n.458C>G c.4046C>G (p.Pro1349Arg) c.3731C>G (p.Pro1244Arg) c.1628C>G (p.Pro543Arg) c.4070C>G (p.Pro1357Arg) c.4061C>G (p.Pro1354Arg) c.4052C>G (p.Pro1351Arg) c.2390C>G (p.Pro797Arg) | |
X | g.108680924C>T | CA413851173 | COL4A5 | c.4055C>T (p.Pro1352Leu) c.4037C>T (p.Pro1346Leu) n.549C>T n.458C>T c.4046C>T (p.Pro1349Leu) c.3731C>T (p.Pro1244Leu) c.1628C>T (p.Pro543Leu) c.4070C>T (p.Pro1357Leu) c.4061C>T (p.Pro1354Leu) c.4052C>T (p.Pro1351Leu) c.2390C>T (p.Pro797Leu) | |
X | g.108680925T>A | CA517923663 | COL4A5 | c.4056T>A (p.Pro1352=) c.4038T>A (p.Pro1346=) n.550T>A n.459T>A c.4047T>A (p.Pro1349=) c.3732T>A (p.Pro1244=) c.1629T>A (p.Pro543=) c.4071T>A (p.Pro1357=) c.4062T>A (p.Pro1354=) c.4053T>A (p.Pro1351=) c.2391T>A (p.Pro797=) | |
X | g.108680925T>C | CA517923664 | COL4A5 | c.4056T>C (p.Pro1352=) c.4038T>C (p.Pro1346=) n.550T>C n.459T>C c.4047T>C (p.Pro1349=) c.3732T>C (p.Pro1244=) c.1629T>C (p.Pro543=) c.4071T>C (p.Pro1357=) c.4062T>C (p.Pro1354=) c.4053T>C (p.Pro1351=) c.2391T>C (p.Pro797=) | |
X | g.108680925T>G | CA517923665 | COL4A5 | c.4056T>G (p.Pro1352=) c.4038T>G (p.Pro1346=) n.550T>G n.459T>G c.4047T>G (p.Pro1349=) c.3732T>G (p.Pro1244=) c.1629T>G (p.Pro543=) c.4071T>G (p.Pro1357=) c.4062T>G (p.Pro1354=) c.4053T>G (p.Pro1351=) c.2391T>G (p.Pro797=) | |
X | g.108680926G>A | CA413851174 | COL4A5 | c.4057G>A (p.Glu1353Lys) c.4039G>A (p.Glu1347Lys) n.551G>A n.460G>A c.4048G>A (p.Glu1350Lys) c.3733G>A (p.Glu1245Lys) c.1630G>A (p.Glu544Lys) c.4072G>A (p.Glu1358Lys) c.4063G>A (p.Glu1355Lys) c.4054G>A (p.Glu1352Lys) c.2392G>A (p.Glu798Lys) | |
X | g.108680926G>C | CA413851175 | COL4A5 | c.4057G>C (p.Glu1353Gln) c.4039G>C (p.Glu1347Gln) n.551G>C n.460G>C c.4048G>C (p.Glu1350Gln) c.3733G>C (p.Glu1245Gln) c.1630G>C (p.Glu544Gln) c.4072G>C (p.Glu1358Gln) c.4063G>C (p.Glu1355Gln) c.4054G>C (p.Glu1352Gln) c.2392G>C (p.Glu798Gln) | |
X | g.108680926G>T | CA413851176 | COL4A5 | c.4057G>T (p.Glu1353Ter) c.4039G>T (p.Glu1347Ter) n.551G>T n.460G>T c.4048G>T (p.Glu1350Ter) c.3733G>T (p.Glu1245Ter) c.1630G>T (p.Glu544Ter) c.4072G>T (p.Glu1358Ter) c.4063G>T (p.Glu1355Ter) c.4054G>T (p.Glu1352Ter) c.2392G>T (p.Glu798Ter) | ClinVar |
X | g.108680927A>C | CA413851177 | COL4A5 | c.4058A>C (p.Glu1353Ala) c.4040A>C (p.Glu1347Ala) n.552A>C n.461A>C c.4049A>C (p.Glu1350Ala) c.3734A>C (p.Glu1245Ala) c.1631A>C (p.Glu544Ala) c.4073A>C (p.Glu1358Ala) c.4064A>C (p.Glu1355Ala) c.4055A>C (p.Glu1352Ala) c.2393A>C (p.Glu798Ala) | |
X | g.108680927A>G | CA413851178 | COL4A5 | c.4058A>G (p.Glu1353Gly) c.4040A>G (p.Glu1347Gly) n.552A>G n.461A>G c.4049A>G (p.Glu1350Gly) c.3734A>G (p.Glu1245Gly) c.1631A>G (p.Glu544Gly) c.4073A>G (p.Glu1358Gly) c.4064A>G (p.Glu1355Gly) c.4055A>G (p.Glu1352Gly) c.2393A>G (p.Glu798Gly) | |
X | g.108680927A>T | CA413851179 | COL4A5 | c.4058A>T (p.Glu1353Val) c.4040A>T (p.Glu1347Val) n.552A>T n.461A>T c.4049A>T (p.Glu1350Val) c.3734A>T (p.Glu1245Val) c.1631A>T (p.Glu544Val) c.4073A>T (p.Glu1358Val) c.4064A>T (p.Glu1355Val) c.4055A>T (p.Glu1352Val) c.2393A>T (p.Glu798Val) | |
X | g.108680927_108680928delinsAG | CA2450716908 | COL4A5 | c.4058_4059delinsAG (p.Glu1353=) c.4040_4041delinsAG (p.Glu1347=) n.552_553delinsAG n.461_462delinsAG c.4049_4050delinsAG (p.Glu1350=) c.3734_3735delinsAG (p.Glu1245=) c.1631_1632delinsAG (p.Glu544=) c.4073_4074delinsAG (p.Glu1358=) c.4064_4065delinsAG (p.Glu1355=) c.4055_4056delinsAG (p.Glu1352=) c.2393_2394delinsAG (p.Glu798=) | |
X | g.108680928G>A | CA517923666 | COL4A5 | c.4059G>A (p.Glu1353=) c.4041G>A (p.Glu1347=) n.553G>A n.462G>A c.4050G>A (p.Glu1350=) c.3735G>A (p.Glu1245=) c.1632G>A (p.Glu544=) c.4074G>A (p.Glu1358=) c.4065G>A (p.Glu1355=) c.4056G>A (p.Glu1352=) c.2394G>A (p.Glu798=) | |
X | g.108680928G>C | CA413851180 | COL4A5 | c.4059G>C (p.Glu1353Asp) c.4041G>C (p.Glu1347Asp) n.553G>C n.462G>C c.4050G>C (p.Glu1350Asp) c.3735G>C (p.Glu1245Asp) c.1632G>C (p.Glu544Asp) c.4074G>C (p.Glu1358Asp) c.4065G>C (p.Glu1355Asp) c.4056G>C (p.Glu1352Asp) c.2394G>C (p.Glu798Asp) | |
X | g.108680928G>T | CA413851181 | COL4A5 | c.4059G>T (p.Glu1353Asp) c.4041G>T (p.Glu1347Asp) n.553G>T n.462G>T c.4050G>T (p.Glu1350Asp) c.3735G>T (p.Glu1245Asp) c.1632G>T (p.Glu544Asp) c.4074G>T (p.Glu1358Asp) c.4065G>T (p.Glu1355Asp) c.4056G>T (p.Glu1352Asp) c.2394G>T (p.Glu798Asp) | gnomAD v4 |
X | g.108680932dup | CA2695235670 | COL4A5 | c.4063dup (p.Glu1355GlyfsTer24) c.4045dup (p.Glu1349GlyfsTer24) n.557dup n.466dup c.4054dup (p.Glu1352GlyfsTer24) c.3739dup (p.Glu1247GlyfsTer24) c.1636dup (p.Glu546GlyfsTer24) c.4078dup (p.Glu1360GlyfsTer24) c.4069dup (p.Glu1357GlyfsTer24) c.4060dup (p.Glu1354GlyfsTer24) c.2398dup (p.Glu800GlyfsTer24) | |
X | g.108680932del | CA658659033 | COL4A5 | c.4063del (p.Glu1355AsnfsTer22) c.4045del (p.Glu1349AsnfsTer22) n.557del n.466del c.4054del (p.Glu1352AsnfsTer22) c.3739del (p.Glu1247AsnfsTer22) c.1636del (p.Glu546AsnfsTer22) c.4078del (p.Glu1360AsnfsTer22) c.4069del (p.Glu1357AsnfsTer22) c.4060del (p.Glu1354AsnfsTer22) c.2398del (p.Glu800AsnfsTer22) | ClinVar dbSNP |
X | g.108680929G>A | CA413851182 | COL4A5 | c.4060G>A (p.Gly1354Arg) c.4042G>A (p.Gly1348Arg) n.554G>A n.463G>A c.4051G>A (p.Gly1351Arg) c.3736G>A (p.Gly1246Arg) c.1633G>A (p.Gly545Arg) c.4075G>A (p.Gly1359Arg) c.4066G>A (p.Gly1356Arg) c.4057G>A (p.Gly1353Arg) c.2395G>A (p.Gly799Arg) | |
X | g.108680929G>C | CA413851184 | COL4A5 | c.4060G>C (p.Gly1354Arg) c.4042G>C (p.Gly1348Arg) n.554G>C n.463G>C c.4051G>C (p.Gly1351Arg) c.3736G>C (p.Gly1246Arg) c.1633G>C (p.Gly545Arg) c.4075G>C (p.Gly1359Arg) c.4066G>C (p.Gly1356Arg) c.4057G>C (p.Gly1353Arg) c.2395G>C (p.Gly799Arg) | |
X | g.108680929G>T | CA413851183 | COL4A5 | c.4060G>T (p.Gly1354Trp) c.4042G>T (p.Gly1348Trp) n.554G>T n.463G>T c.4051G>T (p.Gly1351Trp) c.3736G>T (p.Gly1246Trp) c.1633G>T (p.Gly545Trp) c.4075G>T (p.Gly1359Trp) c.4066G>T (p.Gly1356Trp) c.4057G>T (p.Gly1353Trp) c.2395G>T (p.Gly799Trp) | ClinVar |
X | g.108680930G>A | CA413851185 | COL4A5 | c.4061G>A (p.Gly1354Glu) c.4043G>A (p.Gly1348Glu) n.555G>A n.464G>A c.4052G>A (p.Gly1351Glu) c.3737G>A (p.Gly1246Glu) c.1634G>A (p.Gly545Glu) c.4076G>A (p.Gly1359Glu) c.4067G>A (p.Gly1356Glu) c.4058G>A (p.Gly1353Glu) c.2396G>A (p.Gly799Glu) | COSMIC COSMIC |
X | g.108680930G>C | CA413851186 | COL4A5 | c.4061G>C (p.Gly1354Ala) c.4043G>C (p.Gly1348Ala) n.555G>C n.464G>C c.4052G>C (p.Gly1351Ala) c.3737G>C (p.Gly1246Ala) c.1634G>C (p.Gly545Ala) c.4076G>C (p.Gly1359Ala) c.4067G>C (p.Gly1356Ala) c.4058G>C (p.Gly1353Ala) c.2396G>C (p.Gly799Ala) | |
X | g.108680930G>T | CA413851187 | COL4A5 | c.4061G>T (p.Gly1354Val) c.4043G>T (p.Gly1348Val) n.555G>T n.464G>T c.4052G>T (p.Gly1351Val) c.3737G>T (p.Gly1246Val) c.1634G>T (p.Gly545Val) c.4076G>T (p.Gly1359Val) c.4067G>T (p.Gly1356Val) c.4058G>T (p.Gly1353Val) c.2396G>T (p.Gly799Val) | |
X | g.108680930_108680931delinsAT | CA2740097970 | COL4A5 | c.4061_4062delinsAT (p.Gly1354Asp) c.4043_4044delinsAT (p.Gly1348Asp) n.555_556delinsAT n.464_465delinsAT c.4052_4053delinsAT (p.Gly1351Asp) c.3737_3738delinsAT (p.Gly1246Asp) c.1634_1635delinsAT (p.Gly545Asp) c.4076_4077delinsAT (p.Gly1359Asp) c.4067_4068delinsAT (p.Gly1356Asp) c.4058_4059delinsAT (p.Gly1353Asp) c.2396_2397delinsAT (p.Gly799Asp) | ClinVar |
X | g.108680930_108680939delinsAGGA | CA2695235671 | COL4A5 | c.4061_4070delinsAGGA (p.Gly1354_Gly1357delinsGluGlu) c.4043_4052delinsAGGA (p.Gly1348_Gly1351delinsGluGlu) n.555_564delinsAGGA n.464_473delinsAGGA c.4052_4061delinsAGGA (p.Gly1351_Gly1354delinsGluGlu) c.3737_3746delinsAGGA (p.Gly1246_Gly1249delinsGluGlu) c.1634_1643delinsAGGA (p.Gly545_Gly548delinsGluGlu) c.4076_4085delinsAGGA (p.Gly1359_Gly1362delinsGluGlu) c.4067_4076delinsAGGA (p.Gly1356_Gly1359delinsGluGlu) c.4058_4067delinsAGGA (p.Gly1353_Gly1356delinsGluGlu) c.2396_2405delinsAGGA (p.Gly799_Gly802delinsGluGlu) | |
X | g.108680931G>A | CA517923667 | COL4A5 | c.4062G>A (p.Gly1354=) c.4044G>A (p.Gly1348=) n.556G>A n.465G>A c.4053G>A (p.Gly1351=) c.3738G>A (p.Gly1246=) c.1635G>A (p.Gly545=) c.4077G>A (p.Gly1359=) c.4068G>A (p.Gly1356=) c.4059G>A (p.Gly1353=) c.2397G>A (p.Gly799=) | |
X | g.108680931G>C | CA517923668 | COL4A5 | c.4062G>C (p.Gly1354=) c.4044G>C (p.Gly1348=) n.556G>C n.465G>C c.4053G>C (p.Gly1351=) c.3738G>C (p.Gly1246=) c.1635G>C (p.Gly545=) c.4077G>C (p.Gly1359=) c.4068G>C (p.Gly1356=) c.4059G>C (p.Gly1353=) c.2397G>C (p.Gly799=) | |
X | g.108680931G>T | CA517923669 | COL4A5 | c.4062G>T (p.Gly1354=) c.4044G>T (p.Gly1348=) n.556G>T n.465G>T c.4053G>T (p.Gly1351=) c.3738G>T (p.Gly1246=) c.1635G>T (p.Gly545=) c.4077G>T (p.Gly1359=) c.4068G>T (p.Gly1356=) c.4059G>T (p.Gly1353=) c.2397G>T (p.Gly799=) | |
X | g.108680932G>A | CA413851188 | COL4A5 | c.4063G>A (p.Glu1355Lys) c.4045G>A (p.Glu1349Lys) n.557G>A n.466G>A c.4054G>A (p.Glu1352Lys) c.3739G>A (p.Glu1247Lys) c.1636G>A (p.Glu546Lys) c.4078G>A (p.Glu1360Lys) c.4069G>A (p.Glu1357Lys) c.4060G>A (p.Glu1354Lys) c.2398G>A (p.Glu800Lys) | gnomAD v4 COSMIC COSMIC |
X | g.108680932G>C | CA413851189 | COL4A5 | c.4063G>C (p.Glu1355Gln) c.4045G>C (p.Glu1349Gln) n.557G>C n.466G>C c.4054G>C (p.Glu1352Gln) c.3739G>C (p.Glu1247Gln) c.1636G>C (p.Glu546Gln) c.4078G>C (p.Glu1360Gln) c.4069G>C (p.Glu1357Gln) c.4060G>C (p.Glu1354Gln) c.2398G>C (p.Glu800Gln) | |
X | g.108680932G>T | CA413851190 | COL4A5 | c.4063G>T (p.Glu1355Ter) c.4045G>T (p.Glu1349Ter) n.557G>T n.466G>T c.4054G>T (p.Glu1352Ter) c.3739G>T (p.Glu1247Ter) c.1636G>T (p.Glu546Ter) c.4078G>T (p.Glu1360Ter) c.4069G>T (p.Glu1357Ter) c.4060G>T (p.Glu1354Ter) c.2398G>T (p.Glu800Ter) | |
X | g.108680933A>C | CA413851191 | COL4A5 | c.4064A>C (p.Glu1355Ala) c.4046A>C (p.Glu1349Ala) n.558A>C n.467A>C c.4055A>C (p.Glu1352Ala) c.3740A>C (p.Glu1247Ala) c.1637A>C (p.Glu546Ala) c.4079A>C (p.Glu1360Ala) c.4070A>C (p.Glu1357Ala) c.4061A>C (p.Glu1354Ala) c.2399A>C (p.Glu800Ala) | |
X | g.108680933A>G | CA413851192 | COL4A5 | c.4064A>G (p.Glu1355Gly) c.4046A>G (p.Glu1349Gly) n.558A>G n.467A>G c.4055A>G (p.Glu1352Gly) c.3740A>G (p.Glu1247Gly) c.1637A>G (p.Glu546Gly) c.4079A>G (p.Glu1360Gly) c.4070A>G (p.Glu1357Gly) c.4061A>G (p.Glu1354Gly) c.2399A>G (p.Glu800Gly) | |
X | g.108680933A>T | CA413851193 | COL4A5 | c.4064A>T (p.Glu1355Val) c.4046A>T (p.Glu1349Val) n.558A>T n.467A>T c.4055A>T (p.Glu1352Val) c.3740A>T (p.Glu1247Val) c.1637A>T (p.Glu546Val) c.4079A>T (p.Glu1360Val) c.4070A>T (p.Glu1357Val) c.4061A>T (p.Glu1354Val) c.2399A>T (p.Glu800Val) | |
X | g.108680934A= | CA2450716909 | COL4A5 | c.4065A= (p.Glu1355=) c.4047A= (p.Glu1349=) n.559A= n.468A= c.4056A= (p.Glu1352=) c.3741A= (p.Glu1247=) c.1638A= (p.Glu546=) c.4080A= (p.Glu1360=) c.4071A= (p.Glu1357=) c.4062A= (p.Glu1354=) c.2400A= (p.Glu800=) | |
X | g.108680934A>C | CA334054743 | COL4A5 | c.4065A>C (p.Glu1355Asp) c.4047A>C (p.Glu1349Asp) n.559A>C n.468A>C c.4056A>C (p.Glu1352Asp) c.3741A>C (p.Glu1247Asp) c.1638A>C (p.Glu546Asp) c.4080A>C (p.Glu1360Asp) c.4071A>C (p.Glu1357Asp) c.4062A>C (p.Glu1354Asp) c.2400A>C (p.Glu800Asp) | dbSNP |
X | g.108680934A>G | CA517923670 | COL4A5 | c.4065A>G (p.Glu1355=) c.4047A>G (p.Glu1349=) n.559A>G n.468A>G c.4056A>G (p.Glu1352=) c.3741A>G (p.Glu1247=) c.1638A>G (p.Glu546=) c.4080A>G (p.Glu1360=) c.4071A>G (p.Glu1357=) c.4062A>G (p.Glu1354=) c.2400A>G (p.Glu800=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108680934A>T | CA413851194 | COL4A5 | c.4065A>T (p.Glu1355Asp) c.4047A>T (p.Glu1349Asp) n.559A>T n.468A>T c.4056A>T (p.Glu1352Asp) c.3741A>T (p.Glu1247Asp) c.1638A>T (p.Glu546Asp) c.4080A>T (p.Glu1360Asp) c.4071A>T (p.Glu1357Asp) c.4062A>T (p.Glu1354Asp) c.2400A>T (p.Glu800Asp) | |
X | g.108680935C>A | CA413851195 | COL4A5 | c.4066C>A (p.Pro1356Thr) c.4048C>A (p.Pro1350Thr) n.560C>A n.469C>A c.4057C>A (p.Pro1353Thr) c.3742C>A (p.Pro1248Thr) c.1639C>A (p.Pro547Thr) c.4081C>A (p.Pro1361Thr) c.4072C>A (p.Pro1358Thr) c.4063C>A (p.Pro1355Thr) c.2401C>A (p.Pro801Thr) | |
X | g.108680935C>G | CA413851196 | COL4A5 | c.4066C>G (p.Pro1356Ala) c.4048C>G (p.Pro1350Ala) n.560C>G n.469C>G c.4057C>G (p.Pro1353Ala) c.3742C>G (p.Pro1248Ala) c.1639C>G (p.Pro547Ala) c.4081C>G (p.Pro1361Ala) c.4072C>G (p.Pro1358Ala) c.4063C>G (p.Pro1355Ala) c.2401C>G (p.Pro801Ala) | |
X | g.108680935C>T | CA413851197 | COL4A5 | c.4066C>T (p.Pro1356Ser) c.4048C>T (p.Pro1350Ser) n.560C>T n.469C>T c.4057C>T (p.Pro1353Ser) c.3742C>T (p.Pro1248Ser) c.1639C>T (p.Pro547Ser) c.4081C>T (p.Pro1361Ser) c.4072C>T (p.Pro1358Ser) c.4063C>T (p.Pro1355Ser) c.2401C>T (p.Pro801Ser) | |
X | g.108680936C>A | CA413851199 | COL4A5 | c.4067C>A (p.Pro1356Gln) c.4049C>A (p.Pro1350Gln) n.561C>A n.470C>A c.4058C>A (p.Pro1353Gln) c.3743C>A (p.Pro1248Gln) c.1640C>A (p.Pro547Gln) c.4082C>A (p.Pro1361Gln) c.4073C>A (p.Pro1358Gln) c.4064C>A (p.Pro1355Gln) c.2402C>A (p.Pro801Gln) | |
X | g.108680936C= | CA2450716910 | COL4A5 | c.4067C= (p.Pro1356=) c.4049C= (p.Pro1350=) n.561C= n.470C= c.4058C= (p.Pro1353=) c.3743C= (p.Pro1248=) c.1640C= (p.Pro547=) c.4082C= (p.Pro1361=) c.4073C= (p.Pro1358=) c.4064C= (p.Pro1355=) c.2402C= (p.Pro801=) | |
X | g.108680936C>G | CA413851198 | COL4A5 | c.4067C>G (p.Pro1356Arg) c.4049C>G (p.Pro1350Arg) n.561C>G n.470C>G c.4058C>G (p.Pro1353Arg) c.3743C>G (p.Pro1248Arg) c.1640C>G (p.Pro547Arg) c.4082C>G (p.Pro1361Arg) c.4073C>G (p.Pro1358Arg) c.4064C>G (p.Pro1355Arg) c.2402C>G (p.Pro801Arg) | |
X | g.108680936C>T | CA10489280 | COL4A5 | c.4067C>T (p.Pro1356Leu) c.4049C>T (p.Pro1350Leu) n.561C>T n.470C>T c.4058C>T (p.Pro1353Leu) c.3743C>T (p.Pro1248Leu) c.1640C>T (p.Pro547Leu) c.4082C>T (p.Pro1361Leu) c.4073C>T (p.Pro1358Leu) c.4064C>T (p.Pro1355Leu) c.2402C>T (p.Pro801Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108680937G>A | CA10489281 | COL4A5 | c.4068G>A (p.Pro1356=) c.4050G>A (p.Pro1350=) n.562G>A n.471G>A c.4059G>A (p.Pro1353=) c.3744G>A (p.Pro1248=) c.1641G>A (p.Pro547=) c.4083G>A (p.Pro1361=) c.4074G>A (p.Pro1358=) c.4065G>A (p.Pro1355=) c.2403G>A (p.Pro801=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.108680937G>C | CA517923672 | COL4A5 | c.4068G>C (p.Pro1356=) c.4050G>C (p.Pro1350=) n.562G>C n.471G>C c.4059G>C (p.Pro1353=) c.3744G>C (p.Pro1248=) c.1641G>C (p.Pro547=) c.4083G>C (p.Pro1361=) c.4074G>C (p.Pro1358=) c.4065G>C (p.Pro1355=) c.2403G>C (p.Pro801=) | |
X | g.108680937G= | CA2450716911 | COL4A5 | c.4068G= (p.Pro1356=) c.4050G= (p.Pro1350=) n.562G= n.471G= c.4059G= (p.Pro1353=) c.3744G= (p.Pro1248=) c.1641G= (p.Pro547=) c.4083G= (p.Pro1361=) c.4074G= (p.Pro1358=) c.4065G= (p.Pro1355=) c.2403G= (p.Pro801=) | |
X | g.108680937G>T | CA517923671 | COL4A5 | c.4068G>T (p.Pro1356=) c.4050G>T (p.Pro1350=) n.562G>T n.471G>T c.4059G>T (p.Pro1353=) c.3744G>T (p.Pro1248=) c.1641G>T (p.Pro547=) c.4083G>T (p.Pro1361=) c.4074G>T (p.Pro1358=) c.4065G>T (p.Pro1355=) c.2403G>T (p.Pro801=) | ClinVar dbSNP |
X | g.108680938G>A | CA413851200 | COL4A5 | c.4069G>A (p.Gly1357Arg) c.4051G>A (p.Gly1351Arg) n.563G>A n.472G>A c.4060G>A (p.Gly1354Arg) c.3745G>A (p.Gly1249Arg) c.1642G>A (p.Gly548Arg) c.4084G>A (p.Gly1362Arg) c.4075G>A (p.Gly1359Arg) c.4066G>A (p.Gly1356Arg) c.2404G>A (p.Gly802Arg) | ClinVar |
X | g.108680938G>C | CA413851201 | COL4A5 | c.4069G>C (p.Gly1357Arg) c.4051G>C (p.Gly1351Arg) n.563G>C n.472G>C c.4060G>C (p.Gly1354Arg) c.3745G>C (p.Gly1249Arg) c.1642G>C (p.Gly548Arg) c.4084G>C (p.Gly1362Arg) c.4075G>C (p.Gly1359Arg) c.4066G>C (p.Gly1356Arg) c.2404G>C (p.Gly802Arg) | |
X | g.108680938G>T | CA413851202 | COL4A5 | c.4069G>T (p.Gly1357Ter) c.4051G>T (p.Gly1351Ter) n.563G>T n.472G>T c.4060G>T (p.Gly1354Ter) c.3745G>T (p.Gly1249Ter) c.1642G>T (p.Gly548Ter) c.4084G>T (p.Gly1362Ter) c.4075G>T (p.Gly1359Ter) c.4066G>T (p.Gly1356Ter) c.2404G>T (p.Gly802Ter) | ClinVar |
X | g.108680939G>A | CA334054787 | COL4A5 | c.4070G>A (p.Gly1357Glu) c.4052G>A (p.Gly1351Glu) n.564G>A n.473G>A c.4061G>A (p.Gly1354Glu) c.3746G>A (p.Gly1249Glu) c.1643G>A (p.Gly548Glu) c.4085G>A (p.Gly1362Glu) c.4076G>A (p.Gly1359Glu) c.4067G>A (p.Gly1356Glu) c.2405G>A (p.Gly802Glu) | ClinVar dbSNP |
X | g.108680939G>C | CA413851203 | COL4A5 | c.4070G>C (p.Gly1357Ala) c.4052G>C (p.Gly1351Ala) n.564G>C n.473G>C c.4061G>C (p.Gly1354Ala) c.3746G>C (p.Gly1249Ala) c.1643G>C (p.Gly548Ala) c.4085G>C (p.Gly1362Ala) c.4076G>C (p.Gly1359Ala) c.4067G>C (p.Gly1356Ala) c.2405G>C (p.Gly802Ala) | |
X | g.108680939G= | CA2450716912 | COL4A5 | c.4070G= (p.Gly1357=) c.4052G= (p.Gly1351=) n.564G= n.473G= c.4061G= (p.Gly1354=) c.3746G= (p.Gly1249=) c.1643G= (p.Gly548=) c.4085G= (p.Gly1362=) c.4076G= (p.Gly1359=) c.4067G= (p.Gly1356=) c.2405G= (p.Gly802=) | |
X | g.108680939G>T | CA413851204 | COL4A5 | c.4070G>T (p.Gly1357Val) c.4052G>T (p.Gly1351Val) n.564G>T n.473G>T c.4061G>T (p.Gly1354Val) c.3746G>T (p.Gly1249Val) c.1643G>T (p.Gly548Val) c.4085G>T (p.Gly1362Val) c.4076G>T (p.Gly1359Val) c.4067G>T (p.Gly1356Val) c.2405G>T (p.Gly802Val) | |
X | g.108680940A= | CA2450716913 | COL4A5 | c.4071A= (p.Gly1357=) c.4053A= (p.Gly1351=) n.565A= n.474A= c.4062A= (p.Gly1354=) c.3747A= (p.Gly1249=) c.1644A= (p.Gly548=) c.4086A= (p.Gly1362=) c.4077A= (p.Gly1359=) c.4068A= (p.Gly1356=) c.2406A= (p.Gly802=) | |
X | g.108680940A>C | CA517923673 | COL4A5 | c.4071A>C (p.Gly1357=) c.4053A>C (p.Gly1351=) n.565A>C n.474A>C c.4062A>C (p.Gly1354=) c.3747A>C (p.Gly1249=) c.1644A>C (p.Gly548=) c.4086A>C (p.Gly1362=) c.4077A>C (p.Gly1359=) c.4068A>C (p.Gly1356=) c.2406A>C (p.Gly802=) | |
X | g.108680940A>G | CA10489282 | COL4A5 | c.4071A>G (p.Gly1357=) c.4053A>G (p.Gly1351=) n.565A>G n.474A>G c.4062A>G (p.Gly1354=) c.3747A>G (p.Gly1249=) c.1644A>G (p.Gly548=) c.4086A>G (p.Gly1362=) c.4077A>G (p.Gly1359=) c.4068A>G (p.Gly1356=) c.2406A>G (p.Gly802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108680940A>T | CA517923674 | COL4A5 | c.4071A>T (p.Gly1357=) c.4053A>T (p.Gly1351=) n.565A>T n.474A>T c.4062A>T (p.Gly1354=) c.3747A>T (p.Gly1249=) c.1644A>T (p.Gly548=) c.4086A>T (p.Gly1362=) c.4077A>T (p.Gly1359=) c.4068A>T (p.Gly1356=) c.2406A>T (p.Gly802=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108680941C>A | CA10489283 | COL4A5 | c.4072C>A (p.Leu1358Ile) c.4054C>A (p.Leu1352Ile) n.566C>A n.475C>A c.4063C>A (p.Leu1355Ile) c.3748C>A (p.Leu1250Ile) c.1645C>A (p.Leu549Ile) c.4087C>A (p.Leu1363Ile) c.4078C>A (p.Leu1360Ile) c.4069C>A (p.Leu1357Ile) c.2407C>A (p.Leu803Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108680941C= | CA2450716914 | COL4A5 | c.4072C= (p.Leu1358=) c.4054C= (p.Leu1352=) n.566C= n.475C= c.4063C= (p.Leu1355=) c.3748C= (p.Leu1250=) c.1645C= (p.Leu549=) c.4087C= (p.Leu1363=) c.4078C= (p.Leu1360=) c.4069C= (p.Leu1357=) c.2407C= (p.Leu803=) | |
X | g.108680941C>G | CA413851205 | COL4A5 | c.4072C>G (p.Leu1358Val) c.4054C>G (p.Leu1352Val) n.566C>G n.475C>G c.4063C>G (p.Leu1355Val) c.3748C>G (p.Leu1250Val) c.1645C>G (p.Leu549Val) c.4087C>G (p.Leu1363Val) c.4078C>G (p.Leu1360Val) c.4069C>G (p.Leu1357Val) c.2407C>G (p.Leu803Val) | gnomAD v4 |
X | g.108680941C>T | CA413851206 | COL4A5 | c.4072C>T (p.Leu1358Phe) c.4054C>T (p.Leu1352Phe) n.566C>T n.475C>T c.4063C>T (p.Leu1355Phe) c.3748C>T (p.Leu1250Phe) c.1645C>T (p.Leu549Phe) c.4087C>T (p.Leu1363Phe) c.4078C>T (p.Leu1360Phe) c.4069C>T (p.Leu1357Phe) c.2407C>T (p.Leu803Phe) | |
X | g.108680942T>A | CA413851207 | COL4A5 | c.4073T>A (p.Leu1358His) c.4055T>A (p.Leu1352His) n.567T>A n.476T>A c.4064T>A (p.Leu1355His) c.3749T>A (p.Leu1250His) c.1646T>A (p.Leu549His) c.4088T>A (p.Leu1363His) c.4079T>A (p.Leu1360His) c.4070T>A (p.Leu1357His) c.2408T>A (p.Leu803His) | |
X | g.108680942T>C | CA413851208 | COL4A5 | c.4073T>C (p.Leu1358Pro) c.4055T>C (p.Leu1352Pro) n.567T>C n.476T>C c.4064T>C (p.Leu1355Pro) c.3749T>C (p.Leu1250Pro) c.1646T>C (p.Leu549Pro) c.4088T>C (p.Leu1363Pro) c.4079T>C (p.Leu1360Pro) c.4070T>C (p.Leu1357Pro) c.2408T>C (p.Leu803Pro) | |
X | g.108680942T>G | CA413851209 | COL4A5 | c.4073T>G (p.Leu1358Arg) c.4055T>G (p.Leu1352Arg) n.567T>G n.476T>G c.4064T>G (p.Leu1355Arg) c.3749T>G (p.Leu1250Arg) c.1646T>G (p.Leu549Arg) c.4088T>G (p.Leu1363Arg) c.4079T>G (p.Leu1360Arg) c.4070T>G (p.Leu1357Arg) c.2408T>G (p.Leu803Arg) | |
X | g.108680943T>A | CA517923675 | COL4A5 | c.4074T>A (p.Leu1358=) c.4056T>A (p.Leu1352=) n.568T>A n.477T>A c.4065T>A (p.Leu1355=) c.3750T>A (p.Leu1250=) c.1647T>A (p.Leu549=) c.4089T>A (p.Leu1363=) c.4080T>A (p.Leu1360=) c.4071T>A (p.Leu1357=) c.2409T>A (p.Leu803=) | |
X | g.108680943T>C | CA517923676 | COL4A5 | c.4074T>C (p.Leu1358=) c.4056T>C (p.Leu1352=) n.568T>C n.477T>C c.4065T>C (p.Leu1355=) c.3750T>C (p.Leu1250=) c.1647T>C (p.Leu549=) c.4089T>C (p.Leu1363=) c.4080T>C (p.Leu1360=) c.4071T>C (p.Leu1357=) c.2409T>C (p.Leu803=) | |
X | g.108680943T>G | CA517923677 | COL4A5 | c.4074T>G (p.Leu1358=) c.4056T>G (p.Leu1352=) n.568T>G n.477T>G c.4065T>G (p.Leu1355=) c.3750T>G (p.Leu1250=) c.1647T>G (p.Leu549=) c.4089T>G (p.Leu1363=) c.4080T>G (p.Leu1360=) c.4071T>G (p.Leu1357=) c.2409T>G (p.Leu803=) | |
X | g.108680944A= | CA2450716915 | COL4A5 | c.4075A= (p.Ile1359=) c.4057A= (p.Ile1353=) n.569A= n.478A= c.4066A= (p.Ile1356=) c.3751A= (p.Ile1251=) c.1648A= (p.Ile550=) c.4090A= (p.Ile1364=) c.4081A= (p.Ile1361=) c.4072A= (p.Ile1358=) c.2410A= (p.Ile804=) | |
X | g.108680944A>C | CA413851211 | COL4A5 | c.4075A>C (p.Ile1359Leu) c.4057A>C (p.Ile1353Leu) n.569A>C n.478A>C c.4066A>C (p.Ile1356Leu) c.3751A>C (p.Ile1251Leu) c.1648A>C (p.Ile550Leu) c.4090A>C (p.Ile1364Leu) c.4081A>C (p.Ile1361Leu) c.4072A>C (p.Ile1358Leu) c.2410A>C (p.Ile804Leu) | |
X | g.108680944A>G | CA10489284 | COL4A5 | c.4075A>G (p.Ile1359Val) c.4057A>G (p.Ile1353Val) n.569A>G n.478A>G c.4066A>G (p.Ile1356Val) c.3751A>G (p.Ile1251Val) c.1648A>G (p.Ile550Val) c.4090A>G (p.Ile1364Val) c.4081A>G (p.Ile1361Val) c.4072A>G (p.Ile1358Val) c.2410A>G (p.Ile804Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108680944A>T | CA413851210 | COL4A5 | c.4075A>T (p.Ile1359Phe) c.4057A>T (p.Ile1353Phe) n.569A>T n.478A>T c.4066A>T (p.Ile1356Phe) c.3751A>T (p.Ile1251Phe) c.1648A>T (p.Ile550Phe) c.4090A>T (p.Ile1364Phe) c.4081A>T (p.Ile1361Phe) c.4072A>T (p.Ile1358Phe) c.2410A>T (p.Ile804Phe) | |
X | g.108680945T>A | CA413851213 | COL4A5 | c.4076T>A (p.Ile1359Asn) c.4058T>A (p.Ile1353Asn) n.570T>A n.479T>A c.4067T>A (p.Ile1356Asn) c.3752T>A (p.Ile1251Asn) c.1649T>A (p.Ile550Asn) c.4091T>A (p.Ile1364Asn) c.4082T>A (p.Ile1361Asn) c.4073T>A (p.Ile1358Asn) c.2411T>A (p.Ile804Asn) | |
X | g.108680945T>C | CA413851215 | COL4A5 | c.4076T>C (p.Ile1359Thr) c.4058T>C (p.Ile1353Thr) n.570T>C n.479T>C c.4067T>C (p.Ile1356Thr) c.3752T>C (p.Ile1251Thr) c.1649T>C (p.Ile550Thr) c.4091T>C (p.Ile1364Thr) c.4082T>C (p.Ile1361Thr) c.4073T>C (p.Ile1358Thr) c.2411T>C (p.Ile804Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108680945T>G | CA413851217 | COL4A5 | c.4076T>G (p.Ile1359Ser) c.4058T>G (p.Ile1353Ser) n.570T>G n.479T>G c.4067T>G (p.Ile1356Ser) c.3752T>G (p.Ile1251Ser) c.1649T>G (p.Ile550Ser) c.4091T>G (p.Ile1364Ser) c.4082T>G (p.Ile1361Ser) c.4073T>G (p.Ile1358Ser) c.2411T>G (p.Ile804Ser) | |
X | g.108680945T= | CA2450716916 | COL4A5 | c.4076T= (p.Ile1359=) c.4058T= (p.Ile1353=) n.570T= n.479T= c.4067T= (p.Ile1356=) c.3752T= (p.Ile1251=) c.1649T= (p.Ile550=) c.4091T= (p.Ile1364=) c.4082T= (p.Ile1361=) c.4073T= (p.Ile1358=) c.2411T= (p.Ile804=) | |
X | g.108680946T>A | CA517923678 | COL4A5 | c.4077T>A (p.Ile1359=) c.4059T>A (p.Ile1353=) n.571T>A n.480T>A c.4068T>A (p.Ile1356=) c.3753T>A (p.Ile1251=) c.1650T>A (p.Ile550=) c.4092T>A (p.Ile1364=) c.4083T>A (p.Ile1361=) c.4074T>A (p.Ile1358=) c.2412T>A (p.Ile804=) | |
X | g.108680946T>C | CA517923679 | COL4A5 | c.4077T>C (p.Ile1359=) c.4059T>C (p.Ile1353=) n.571T>C n.480T>C c.4068T>C (p.Ile1356=) c.3753T>C (p.Ile1251=) c.1650T>C (p.Ile550=) c.4092T>C (p.Ile1364=) c.4083T>C (p.Ile1361=) c.4074T>C (p.Ile1358=) c.2412T>C (p.Ile804=) | |
X | g.108680946T>G | CA413851218 | COL4A5 | c.4077T>G (p.Ile1359Met) c.4059T>G (p.Ile1353Met) n.571T>G n.480T>G c.4068T>G (p.Ile1356Met) c.3753T>G (p.Ile1251Met) c.1650T>G (p.Ile550Met) c.4092T>G (p.Ile1364Met) c.4083T>G (p.Ile1361Met) c.4074T>G (p.Ile1358Met) c.2412T>G (p.Ile804Met) | |
X | g.108680947G>A | CA413851219 | COL4A5 | c.4078G>A (p.Gly1360Ser) c.4060G>A (p.Gly1354Ser) n.572G>A n.481G>A c.4069G>A (p.Gly1357Ser) c.3754G>A (p.Gly1252Ser) c.1651G>A (p.Gly551Ser) c.4093G>A (p.Gly1365Ser) c.4084G>A (p.Gly1362Ser) c.4075G>A (p.Gly1359Ser) c.2413G>A (p.Gly805Ser) | |
X | g.108680947G>C | CA413851220 | COL4A5 | c.4078G>C (p.Gly1360Arg) c.4060G>C (p.Gly1354Arg) n.572G>C n.481G>C c.4069G>C (p.Gly1357Arg) c.3754G>C (p.Gly1252Arg) c.1651G>C (p.Gly551Arg) c.4093G>C (p.Gly1365Arg) c.4084G>C (p.Gly1362Arg) c.4075G>C (p.Gly1359Arg) c.2413G>C (p.Gly805Arg) | |
X | g.108680947G= | CA2450716917 | COL4A5 | c.4078G= (p.Gly1360=) c.4060G= (p.Gly1354=) n.572G= n.481G= c.4069G= (p.Gly1357=) c.3754G= (p.Gly1252=) c.1651G= (p.Gly551=) c.4093G= (p.Gly1365=) c.4084G= (p.Gly1362=) c.4075G= (p.Gly1359=) c.2413G= (p.Gly805=) | |
X | g.108680947G>T | CA413851221 | COL4A5 | c.4078G>T (p.Gly1360Cys) c.4060G>T (p.Gly1354Cys) n.572G>T n.481G>T c.4069G>T (p.Gly1357Cys) c.3754G>T (p.Gly1252Cys) c.1651G>T (p.Gly551Cys) c.4093G>T (p.Gly1365Cys) c.4084G>T (p.Gly1362Cys) c.4075G>T (p.Gly1359Cys) c.2413G>T (p.Gly805Cys) | gnomAD v4 |
X | g.108680948G>A | CA413851223 | COL4A5 | c.4079G>A (p.Gly1360Asp) c.4061G>A (p.Gly1354Asp) n.573G>A n.482G>A c.4070G>A (p.Gly1357Asp) c.3755G>A (p.Gly1252Asp) c.1652G>A (p.Gly551Asp) c.4094G>A (p.Gly1365Asp) c.4085G>A (p.Gly1362Asp) c.4076G>A (p.Gly1359Asp) c.2414G>A (p.Gly805Asp) | ClinVar dbSNP |
X | g.108680948G>C | CA413851224 | COL4A5 | c.4079G>C (p.Gly1360Ala) c.4061G>C (p.Gly1354Ala) n.573G>C n.482G>C c.4070G>C (p.Gly1357Ala) c.3755G>C (p.Gly1252Ala) c.1652G>C (p.Gly551Ala) c.4094G>C (p.Gly1365Ala) c.4085G>C (p.Gly1362Ala) c.4076G>C (p.Gly1359Ala) c.2414G>C (p.Gly805Ala) | COSMIC |
X | g.108680948G>T | CA413851225 | COL4A5 | c.4079G>T (p.Gly1360Val) c.4061G>T (p.Gly1354Val) n.573G>T n.482G>T c.4070G>T (p.Gly1357Val) c.3755G>T (p.Gly1252Val) c.1652G>T (p.Gly551Val) c.4094G>T (p.Gly1365Val) c.4085G>T (p.Gly1362Val) c.4076G>T (p.Gly1359Val) c.2414G>T (p.Gly805Val) | |
X | g.108680949T>A | CA517923680 | COL4A5 | c.4080T>A (p.Gly1360=) c.4062T>A (p.Gly1354=) n.574T>A n.483T>A c.4071T>A (p.Gly1357=) c.3756T>A (p.Gly1252=) c.1653T>A (p.Gly551=) c.4095T>A (p.Gly1365=) c.4086T>A (p.Gly1362=) c.4077T>A (p.Gly1359=) c.2415T>A (p.Gly805=) | |
X | g.108680949T>C | CA517923681 | COL4A5 | c.4080T>C (p.Gly1360=) c.4062T>C (p.Gly1354=) n.574T>C n.483T>C c.4071T>C (p.Gly1357=) c.3756T>C (p.Gly1252=) c.1653T>C (p.Gly551=) c.4095T>C (p.Gly1365=) c.4086T>C (p.Gly1362=) c.4077T>C (p.Gly1359=) c.2415T>C (p.Gly805=) | |
X | g.108680949T>G | CA517923682 | COL4A5 | c.4080T>G (p.Gly1360=) c.4062T>G (p.Gly1354=) n.574T>G n.483T>G c.4071T>G (p.Gly1357=) c.3756T>G (p.Gly1252=) c.1653T>G (p.Gly551=) c.4095T>G (p.Gly1365=) c.4086T>G (p.Gly1362=) c.4077T>G (p.Gly1359=) c.2415T>G (p.Gly805=) | |
X | g.108680950C>A | CA413851227 | COL4A5 | c.4081C>A (p.Pro1361Thr) c.4063C>A (p.Pro1355Thr) n.575C>A n.484C>A c.4072C>A (p.Pro1358Thr) c.3757C>A (p.Pro1253Thr) c.1654C>A (p.Pro552Thr) c.4096C>A (p.Pro1366Thr) c.4087C>A (p.Pro1363Thr) c.4078C>A (p.Pro1360Thr) c.2416C>A (p.Pro806Thr) | |
X | g.108680950C>G | CA413851229 | COL4A5 | c.4081C>G (p.Pro1361Ala) c.4063C>G (p.Pro1355Ala) n.575C>G n.484C>G c.4072C>G (p.Pro1358Ala) c.3757C>G (p.Pro1253Ala) c.1654C>G (p.Pro552Ala) c.4096C>G (p.Pro1366Ala) c.4087C>G (p.Pro1363Ala) c.4078C>G (p.Pro1360Ala) c.2416C>G (p.Pro806Ala) | |
X | g.108680950C>T | CA413851231 | COL4A5 | c.4081C>T (p.Pro1361Ser) c.4063C>T (p.Pro1355Ser) n.575C>T n.484C>T c.4072C>T (p.Pro1358Ser) c.3757C>T (p.Pro1253Ser) c.1654C>T (p.Pro552Ser) c.4096C>T (p.Pro1366Ser) c.4087C>T (p.Pro1363Ser) c.4078C>T (p.Pro1360Ser) c.2416C>T (p.Pro806Ser) | |
X | g.108680951del | CA2695235672 | COL4A5 | c.4082del (p.Pro1361LeufsTer16) c.4064del (p.Pro1355LeufsTer16) n.576del n.485del c.4073del (p.Pro1358LeufsTer16) c.3758del (p.Pro1253LeufsTer16) c.1655del (p.Pro552LeufsTer16) c.4097del (p.Pro1366LeufsTer16) c.4088del (p.Pro1363LeufsTer16) c.4079del (p.Pro1360LeufsTer16) c.2417del (p.Pro806LeufsTer16) | |
X | g.108680951C>A | CA413851238 | COL4A5 | c.4082C>A (p.Pro1361His) c.4064C>A (p.Pro1355His) n.576C>A n.485C>A c.4073C>A (p.Pro1358His) c.3758C>A (p.Pro1253His) c.1655C>A (p.Pro552His) c.4097C>A (p.Pro1366His) c.4088C>A (p.Pro1363His) c.4079C>A (p.Pro1360His) c.2417C>A (p.Pro806His) | |
X | g.108680951C>G | CA413851234 | COL4A5 | c.4082C>G (p.Pro1361Arg) c.4064C>G (p.Pro1355Arg) n.576C>G n.485C>G c.4073C>G (p.Pro1358Arg) c.3758C>G (p.Pro1253Arg) c.1655C>G (p.Pro552Arg) c.4097C>G (p.Pro1366Arg) c.4088C>G (p.Pro1363Arg) c.4079C>G (p.Pro1360Arg) c.2417C>G (p.Pro806Arg) | |
X | g.108680951C>T | CA413851236 | COL4A5 | c.4082C>T (p.Pro1361Leu) c.4064C>T (p.Pro1355Leu) n.576C>T n.485C>T c.4073C>T (p.Pro1358Leu) c.3758C>T (p.Pro1253Leu) c.1655C>T (p.Pro552Leu) c.4097C>T (p.Pro1366Leu) c.4088C>T (p.Pro1363Leu) c.4079C>T (p.Pro1360Leu) c.2417C>T (p.Pro806Leu) | gnomAD v4 |
X | g.108680952T>A | CA517923683 | COL4A5 | c.4083T>A (p.Pro1361=) c.4065T>A (p.Pro1355=) n.577T>A n.486T>A c.4074T>A (p.Pro1358=) c.3759T>A (p.Pro1253=) c.1656T>A (p.Pro552=) c.4098T>A (p.Pro1366=) c.4089T>A (p.Pro1363=) c.4080T>A (p.Pro1360=) c.2418T>A (p.Pro806=) | |
X | g.108680952T>C | CA517923684 | COL4A5 | c.4083T>C (p.Pro1361=) c.4065T>C (p.Pro1355=) n.577T>C n.486T>C c.4074T>C (p.Pro1358=) c.3759T>C (p.Pro1253=) c.1656T>C (p.Pro552=) c.4098T>C (p.Pro1366=) c.4089T>C (p.Pro1363=) c.4080T>C (p.Pro1360=) c.2418T>C (p.Pro806=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108680952T>G | CA517923685 | COL4A5 | c.4083T>G (p.Pro1361=) c.4065T>G (p.Pro1355=) n.577T>G n.486T>G c.4074T>G (p.Pro1358=) c.3759T>G (p.Pro1253=) c.1656T>G (p.Pro552=) c.4098T>G (p.Pro1366=) c.4089T>G (p.Pro1363=) c.4080T>G (p.Pro1360=) c.2418T>G (p.Pro806=) | |
X | g.108680952T= | CA2450716918 | COL4A5 | c.4083T= (p.Pro1361=) c.4065T= (p.Pro1355=) n.577T= n.486T= c.4074T= (p.Pro1358=) c.3759T= (p.Pro1253=) c.1656T= (p.Pro552=) c.4098T= (p.Pro1366=) c.4089T= (p.Pro1363=) c.4080T= (p.Pro1360=) c.2418T= (p.Pro806=) | |
X | g.108680953C>A | CA413851240 | COL4A5 | c.4084C>A (p.Pro1362Thr) c.4066C>A (p.Pro1356Thr) n.578C>A n.487C>A c.4075C>A (p.Pro1359Thr) c.3760C>A (p.Pro1254Thr) c.1657C>A (p.Pro553Thr) c.4099C>A (p.Pro1367Thr) c.4090C>A (p.Pro1364Thr) c.4081C>A (p.Pro1361Thr) c.2419C>A (p.Pro807Thr) | dbSNP |
X | g.108680953C= | CA2450716919 | COL4A5 | c.4084C= (p.Pro1362=) c.4066C= (p.Pro1356=) n.578C= n.487C= c.4075C= (p.Pro1359=) c.3760C= (p.Pro1254=) c.1657C= (p.Pro553=) c.4099C= (p.Pro1367=) c.4090C= (p.Pro1364=) c.4081C= (p.Pro1361=) c.2419C= (p.Pro807=) | |
X | g.108680953C>G | CA413851242 | COL4A5 | c.4084C>G (p.Pro1362Ala) c.4066C>G (p.Pro1356Ala) n.578C>G n.487C>G c.4075C>G (p.Pro1359Ala) c.3760C>G (p.Pro1254Ala) c.1657C>G (p.Pro553Ala) c.4099C>G (p.Pro1367Ala) c.4090C>G (p.Pro1364Ala) c.4081C>G (p.Pro1361Ala) c.2419C>G (p.Pro807Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108680953C>T | CA413851244 | COL4A5 | c.4084C>T (p.Pro1362Ser) c.4066C>T (p.Pro1356Ser) n.578C>T n.487C>T c.4075C>T (p.Pro1359Ser) c.3760C>T (p.Pro1254Ser) c.1657C>T (p.Pro553Ser) c.4099C>T (p.Pro1367Ser) c.4090C>T (p.Pro1364Ser) c.4081C>T (p.Pro1361Ser) c.2419C>T (p.Pro807Ser) | gnomAD v4 COSMIC COSMIC |
X | g.108680954C>A | CA413851246 | COL4A5 | c.4085C>A (p.Pro1362Gln) c.4067C>A (p.Pro1356Gln) n.579C>A n.488C>A c.4076C>A (p.Pro1359Gln) c.3761C>A (p.Pro1254Gln) c.1658C>A (p.Pro553Gln) c.4100C>A (p.Pro1367Gln) c.4091C>A (p.Pro1364Gln) c.4082C>A (p.Pro1361Gln) c.2420C>A (p.Pro807Gln) | |
X | g.108680954C>G | CA413851248 | COL4A5 | c.4085C>G (p.Pro1362Arg) c.4067C>G (p.Pro1356Arg) n.579C>G n.488C>G c.4076C>G (p.Pro1359Arg) c.3761C>G (p.Pro1254Arg) c.1658C>G (p.Pro553Arg) c.4100C>G (p.Pro1367Arg) c.4091C>G (p.Pro1364Arg) c.4082C>G (p.Pro1361Arg) c.2420C>G (p.Pro807Arg) | |
X | g.108680954C>T | CA413851250 | COL4A5 | c.4085C>T (p.Pro1362Leu) c.4067C>T (p.Pro1356Leu) n.579C>T n.488C>T c.4076C>T (p.Pro1359Leu) c.3761C>T (p.Pro1254Leu) c.1658C>T (p.Pro553Leu) c.4100C>T (p.Pro1367Leu) c.4091C>T (p.Pro1364Leu) c.4082C>T (p.Pro1361Leu) c.2420C>T (p.Pro807Leu) | |
X | g.108680955A= | CA2450716920 | COL4A5 | c.4086A= (p.Pro1362=) c.4068A= (p.Pro1356=) n.580A= n.489A= c.4077A= (p.Pro1359=) c.3762A= (p.Pro1254=) c.1659A= (p.Pro553=) c.4101A= (p.Pro1367=) c.4092A= (p.Pro1364=) c.4083A= (p.Pro1361=) c.2421A= (p.Pro807=) | |
X | g.108680955A>C | CA517923686 | COL4A5 | c.4086A>C (p.Pro1362=) c.4068A>C (p.Pro1356=) n.580A>C n.489A>C c.4077A>C (p.Pro1359=) c.3762A>C (p.Pro1254=) c.1659A>C (p.Pro553=) c.4101A>C (p.Pro1367=) c.4092A>C (p.Pro1364=) c.4083A>C (p.Pro1361=) c.2421A>C (p.Pro807=) | |
X | g.108680955A>G | CA517923688 | COL4A5 | c.4086A>G (p.Pro1362=) c.4068A>G (p.Pro1356=) n.580A>G n.489A>G c.4077A>G (p.Pro1359=) c.3762A>G (p.Pro1254=) c.1659A>G (p.Pro553=) c.4101A>G (p.Pro1367=) c.4092A>G (p.Pro1364=) c.4083A>G (p.Pro1361=) c.2421A>G (p.Pro807=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108680955A>T | CA517923687 | COL4A5 | c.4086A>T (p.Pro1362=) c.4068A>T (p.Pro1356=) n.580A>T n.489A>T c.4077A>T (p.Pro1359=) c.3762A>T (p.Pro1254=) c.1659A>T (p.Pro553=) c.4101A>T (p.Pro1367=) c.4092A>T (p.Pro1364=) c.4083A>T (p.Pro1361=) c.2421A>T (p.Pro807=) | ClinVar |
X | g.108680956G>A | CA258981 | COL4A5 | c.4087G>A (p.Gly1363Ser) c.4069G>A (p.Gly1357Ser) n.581G>A n.490G>A c.4078G>A (p.Gly1360Ser) c.3763G>A (p.Gly1255Ser) c.1660G>A (p.Gly554Ser) c.4102G>A (p.Gly1368Ser) c.4093G>A (p.Gly1365Ser) c.4084G>A (p.Gly1362Ser) c.2422G>A (p.Gly808Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108680956G>C | CA413851253 | COL4A5 | c.4087G>C (p.Gly1363Arg) c.4069G>C (p.Gly1357Arg) n.581G>C n.490G>C c.4078G>C (p.Gly1360Arg) c.3763G>C (p.Gly1255Arg) c.1660G>C (p.Gly554Arg) c.4102G>C (p.Gly1368Arg) c.4093G>C (p.Gly1365Arg) c.4084G>C (p.Gly1362Arg) c.2422G>C (p.Gly808Arg) | |
X | g.108680956G= | CA2450716921 | COL4A5 | c.4087G= (p.Gly1363=) c.4069G= (p.Gly1357=) n.581G= n.490G= c.4078G= (p.Gly1360=) c.3763G= (p.Gly1255=) c.1660G= (p.Gly554=) c.4102G= (p.Gly1368=) c.4093G= (p.Gly1365=) c.4084G= (p.Gly1362=) c.2422G= (p.Gly808=) | |
X | g.108680956G>T | CA334054834 | COL4A5 | c.4087G>T (p.Gly1363Cys) c.4069G>T (p.Gly1357Cys) n.581G>T n.490G>T c.4078G>T (p.Gly1360Cys) c.3763G>T (p.Gly1255Cys) c.1660G>T (p.Gly554Cys) c.4102G>T (p.Gly1368Cys) c.4093G>T (p.Gly1365Cys) c.4084G>T (p.Gly1362Cys) c.2422G>T (p.Gly808Cys) | dbSNP |
X | g.108680957G>A | CA258984 | COL4A5 | c.4087+1G>A (n.4087+1G>A) c.4069+1G>A (n.4069+1G>A) n.581+1G>A n.490+1G>A c.4078+1G>A (n.4078+1G>A) c.3763+1G>A (n.3763+1G>A) c.1660+1G>A (n.1660+1G>A) c.4102+1G>A (n.4102+1G>A) c.4093+1G>A (n.4093+1G>A) c.4084+1G>A (n.4084+1G>A) c.2422+1G>A (n.2422+1G>A) | ClinVar dbSNP COSMIC COSMIC |
X | g.108680957G>C | CA10489285 | COL4A5 | c.4087+1G>C (n.4087+1G>C) c.4069+1G>C (n.4069+1G>C) n.581+1G>C n.490+1G>C c.4078+1G>C (n.4078+1G>C) c.3763+1G>C (n.3763+1G>C) c.1660+1G>C (n.1660+1G>C) c.4102+1G>C (n.4102+1G>C) c.4093+1G>C (n.4093+1G>C) c.4084+1G>C (n.4084+1G>C) c.2422+1G>C (n.2422+1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108680957G= | CA2450716922 | COL4A5 | c.4087+1G= (n.4087+1G=) c.4069+1G= (n.4069+1G=) n.581+1G= n.490+1G= c.4078+1G= (n.4078+1G=) c.3763+1G= (n.3763+1G=) c.1660+1G= (n.1660+1G=) c.4102+1G= (n.4102+1G=) c.4093+1G= (n.4093+1G=) c.4084+1G= (n.4084+1G=) c.2422+1G= (n.2422+1G=) | |
X | g.108680957G>T | CA413851257 | COL4A5 | c.4087+1G>T (n.4087+1G>T) c.4069+1G>T (n.4069+1G>T) n.581+1G>T n.490+1G>T c.4078+1G>T (n.4078+1G>T) c.3763+1G>T (n.3763+1G>T) c.1660+1G>T (n.1660+1G>T) c.4102+1G>T (n.4102+1G>T) c.4093+1G>T (n.4093+1G>T) c.4084+1G>T (n.4084+1G>T) c.2422+1G>T (n.2422+1G>T) | |
X | g.108680958T>A | CA413851263 | COL4A5 | c.4087+2T>A (n.4087+2T>A) c.4069+2T>A (n.4069+2T>A) n.581+2T>A n.490+2T>A c.4078+2T>A (n.4078+2T>A) c.3763+2T>A (n.3763+2T>A) c.1660+2T>A (n.1660+2T>A) c.4102+2T>A (n.4102+2T>A) c.4093+2T>A (n.4093+2T>A) c.4084+2T>A (n.4084+2T>A) c.2422+2T>A (n.2422+2T>A) | |
X | g.108680958T>C | CA413851266 | COL4A5 | c.4087+2T>C (n.4087+2T>C) c.4069+2T>C (n.4069+2T>C) n.581+2T>C n.490+2T>C c.4078+2T>C (n.4078+2T>C) c.3763+2T>C (n.3763+2T>C) c.1660+2T>C (n.1660+2T>C) c.4102+2T>C (n.4102+2T>C) c.4093+2T>C (n.4093+2T>C) c.4084+2T>C (n.4084+2T>C) c.2422+2T>C (n.2422+2T>C) | |
X | g.108680958T>G | CA413851265 | COL4A5 | c.4087+2T>G (n.4087+2T>G) c.4069+2T>G (n.4069+2T>G) n.581+2T>G n.490+2T>G c.4078+2T>G (n.4078+2T>G) c.3763+2T>G (n.3763+2T>G) c.1660+2T>G (n.1660+2T>G) c.4102+2T>G (n.4102+2T>G) c.4093+2T>G (n.4093+2T>G) c.4084+2T>G (n.4084+2T>G) c.2422+2T>G (n.2422+2T>G) | |
X | g.108680961G>C | CA2566551864 | COL4A5 | c.4087+5G>C (n.4087+5G>C) c.4069+5G>C (n.4069+5G>C) n.581+5G>C n.490+5G>C c.4078+5G>C (n.4078+5G>C) c.3763+5G>C (n.3763+5G>C) c.1660+5G>C (n.1660+5G>C) c.4102+5G>C (n.4102+5G>C) c.4093+5G>C (n.4093+5G>C) c.4084+5G>C (n.4084+5G>C) c.2422+5G>C (n.2422+5G>C) | |
X | g.108680961G>T | CA2512430782 | COL4A5 | c.4087+5G>T (n.4087+5G>T) c.4069+5G>T (n.4069+5G>T) n.581+5G>T n.490+5G>T c.4078+5G>T (n.4078+5G>T) c.3763+5G>T (n.3763+5G>T) c.1660+5G>T (n.1660+5G>T) c.4102+5G>T (n.4102+5G>T) c.4093+5G>T (n.4093+5G>T) c.4084+5G>T (n.4084+5G>T) c.2422+5G>T (n.2422+5G>T) | |
X | g.108680962A= | CA2450716923 | COL4A5 | c.4087+6A= (n.4087+6A=) c.4069+6A= (n.4069+6A=) n.581+6A= n.490+6A= c.4078+6A= (n.4078+6A=) c.3763+6A= (n.3763+6A=) c.1660+6A= (n.1660+6A=) c.4102+6A= (n.4102+6A=) c.4093+6A= (n.4093+6A=) c.4084+6A= (n.4084+6A=) c.2422+6A= (n.2422+6A=) | |
X | g.108680962A>G | CA2450716924 | COL4A5 | c.4087+6A>G (n.4087+6A>G) c.4069+6A>G (n.4069+6A>G) n.581+6A>G n.490+6A>G c.4078+6A>G (n.4078+6A>G) c.3763+6A>G (n.3763+6A>G) c.1660+6A>G (n.1660+6A>G) c.4102+6A>G (n.4102+6A>G) c.4093+6A>G (n.4093+6A>G) c.4084+6A>G (n.4084+6A>G) c.2422+6A>G (n.2422+6A>G) | dbSNP |
X | g.108680962A>T | CA10489286 | COL4A5 | c.4087+6A>T (n.4087+6A>T) c.4069+6A>T (n.4069+6A>T) n.581+6A>T n.490+6A>T c.4078+6A>T (n.4078+6A>T) c.3763+6A>T (n.3763+6A>T) c.1660+6A>T (n.1660+6A>T) c.4102+6A>T (n.4102+6A>T) c.4093+6A>T (n.4093+6A>T) c.4084+6A>T (n.4084+6A>T) c.2422+6A>T (n.2422+6A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108680967T>C | CA643637006 | COL4A5 | c.4087+11T>C (n.4087+11T>C) c.4069+11T>C (n.4069+11T>C) n.581+11T>C n.490+11T>C c.4078+11T>C (n.4078+11T>C) c.3763+11T>C (n.3763+11T>C) c.1660+11T>C (n.1660+11T>C) c.4102+11T>C (n.4102+11T>C) c.4093+11T>C (n.4093+11T>C) c.4084+11T>C (n.4084+11T>C) c.2422+11T>C (n.2422+11T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108680967T>G | CA2694442736 | COL4A5 | c.4087+11T>G (n.4087+11T>G) c.4069+11T>G (n.4069+11T>G) n.581+11T>G n.490+11T>G c.4078+11T>G (n.4078+11T>G) c.3763+11T>G (n.3763+11T>G) c.1660+11T>G (n.1660+11T>G) c.4102+11T>G (n.4102+11T>G) c.4093+11T>G (n.4093+11T>G) c.4084+11T>G (n.4084+11T>G) c.2422+11T>G (n.2422+11T>G) | gnomAD v4 |
X | g.108680967T= | CA2450716925 | COL4A5 | c.4087+11T= (n.4087+11T=) c.4069+11T= (n.4069+11T=) n.581+11T= n.490+11T= c.4078+11T= (n.4078+11T=) c.3763+11T= (n.3763+11T=) c.1660+11T= (n.1660+11T=) c.4102+11T= (n.4102+11T=) c.4093+11T= (n.4093+11T=) c.4084+11T= (n.4084+11T=) c.2422+11T= (n.2422+11T=) | |
X | g.108680969C>A | CA2694442737 | COL4A5 | c.4087+13C>A (n.4087+13C>A) c.4069+13C>A (n.4069+13C>A) n.581+13C>A n.490+13C>A c.4078+13C>A (n.4078+13C>A) c.3763+13C>A (n.3763+13C>A) c.1660+13C>A (n.1660+13C>A) c.4102+13C>A (n.4102+13C>A) c.4093+13C>A (n.4093+13C>A) c.4084+13C>A (n.4084+13C>A) c.2422+13C>A (n.2422+13C>A) | gnomAD v4 |
X | g.108680969C>T | CA2579677076 | COL4A5 | c.4087+13C>T (n.4087+13C>T) c.4069+13C>T (n.4069+13C>T) n.581+13C>T n.490+13C>T c.4078+13C>T (n.4078+13C>T) c.3763+13C>T (n.3763+13C>T) c.1660+13C>T (n.1660+13C>T) c.4102+13C>T (n.4102+13C>T) c.4093+13C>T (n.4093+13C>T) c.4084+13C>T (n.4084+13C>T) c.2422+13C>T (n.2422+13C>T) | |
X | g.108680970C= | CA2450716926 | COL4A5 | c.4087+14C= (n.4087+14C=) c.4069+14C= (n.4069+14C=) n.581+14C= n.490+14C= c.4078+14C= (n.4078+14C=) c.3763+14C= (n.3763+14C=) c.1660+14C= (n.1660+14C=) c.4102+14C= (n.4102+14C=) c.4093+14C= (n.4093+14C=) c.4084+14C= (n.4084+14C=) c.2422+14C= (n.2422+14C=) | |
X | g.108680970C>G | CA334054848 | COL4A5 | c.4087+14C>G (n.4087+14C>G) c.4069+14C>G (n.4069+14C>G) n.581+14C>G n.490+14C>G c.4078+14C>G (n.4078+14C>G) c.3763+14C>G (n.3763+14C>G) c.1660+14C>G (n.1660+14C>G) c.4102+14C>G (n.4102+14C>G) c.4093+14C>G (n.4093+14C>G) c.4084+14C>G (n.4084+14C>G) c.2422+14C>G (n.2422+14C>G) | dbSNP gnomAD v4 |
X | g.108680970C>T | CA517923689 | COL4A5 | c.4087+14C>T (n.4087+14C>T) c.4069+14C>T (n.4069+14C>T) n.581+14C>T n.490+14C>T c.4078+14C>T (n.4078+14C>T) c.3763+14C>T (n.3763+14C>T) c.1660+14C>T (n.1660+14C>T) c.4102+14C>T (n.4102+14C>T) c.4093+14C>T (n.4093+14C>T) c.4084+14C>T (n.4084+14C>T) c.2422+14C>T (n.2422+14C>T) | |
X | g.108680971T>C | CA2694442738 | COL4A5 | c.4087+15T>C (n.4087+15T>C) c.4069+15T>C (n.4069+15T>C) n.581+15T>C n.490+15T>C c.4078+15T>C (n.4078+15T>C) c.3763+15T>C (n.3763+15T>C) c.1660+15T>C (n.1660+15T>C) c.4102+15T>C (n.4102+15T>C) c.4093+15T>C (n.4093+15T>C) c.4084+15T>C (n.4084+15T>C) c.2422+15T>C (n.2422+15T>C) | gnomAD v4 |
X | g.108680972G>A | CA869822698 | COL4A5 | c.4087+16G>A (n.4087+16G>A) c.4069+16G>A (n.4069+16G>A) n.581+16G>A n.490+16G>A c.4078+16G>A (n.4078+16G>A) c.3763+16G>A (n.3763+16G>A) c.1660+16G>A (n.1660+16G>A) c.4102+16G>A (n.4102+16G>A) c.4093+16G>A (n.4093+16G>A) c.4084+16G>A (n.4084+16G>A) c.2422+16G>A (n.2422+16G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108680972G= | CA2450716927 | COL4A5 | c.4087+16G= (n.4087+16G=) c.4069+16G= (n.4069+16G=) n.581+16G= n.490+16G= c.4078+16G= (n.4078+16G=) c.3763+16G= (n.3763+16G=) c.1660+16G= (n.1660+16G=) c.4102+16G= (n.4102+16G=) c.4093+16G= (n.4093+16G=) c.4084+16G= (n.4084+16G=) c.2422+16G= (n.2422+16G=) | |
X | g.108680973A>G | CA2694442739 | COL4A5 | c.4087+17A>G (n.4087+17A>G) c.4069+17A>G (n.4069+17A>G) n.581+17A>G n.490+17A>G c.4078+17A>G (n.4078+17A>G) c.3763+17A>G (n.3763+17A>G) c.1660+17A>G (n.1660+17A>G) c.4102+17A>G (n.4102+17A>G) c.4093+17A>G (n.4093+17A>G) c.4084+17A>G (n.4084+17A>G) c.2422+17A>G (n.2422+17A>G) | gnomAD v4 |
X | g.108680974A>G | CA2694442740 | COL4A5 | c.4087+18A>G (n.4087+18A>G) c.4069+18A>G (n.4069+18A>G) n.581+18A>G n.490+18A>G c.4078+18A>G (n.4078+18A>G) c.3763+18A>G (n.3763+18A>G) c.1660+18A>G (n.1660+18A>G) c.4102+18A>G (n.4102+18A>G) c.4093+18A>G (n.4093+18A>G) c.4084+18A>G (n.4084+18A>G) c.2422+18A>G (n.2422+18A>G) | gnomAD v4 |
X | g.108680975G>A | CA869822701 | COL4A5 | c.4087+19G>A (n.4087+19G>A) c.4069+19G>A (n.4069+19G>A) n.581+19G>A n.490+19G>A c.4078+19G>A (n.4078+19G>A) c.3763+19G>A (n.3763+19G>A) c.1660+19G>A (n.1660+19G>A) c.4102+19G>A (n.4102+19G>A) c.4093+19G>A (n.4093+19G>A) c.4084+19G>A (n.4084+19G>A) c.2422+19G>A (n.2422+19G>A) | ClinVar dbSNP gnomAD v4 |
X | g.108680975G>C | CA2694442741 | COL4A5 | c.4087+19G>C (n.4087+19G>C) c.4069+19G>C (n.4069+19G>C) n.581+19G>C n.490+19G>C c.4078+19G>C (n.4078+19G>C) c.3763+19G>C (n.3763+19G>C) c.1660+19G>C (n.1660+19G>C) c.4102+19G>C (n.4102+19G>C) c.4093+19G>C (n.4093+19G>C) c.4084+19G>C (n.4084+19G>C) c.2422+19G>C (n.2422+19G>C) | gnomAD v4 |
X | g.108680975G= | CA2450716928 | COL4A5 | c.4087+19G= (n.4087+19G=) c.4069+19G= (n.4069+19G=) n.581+19G= n.490+19G= c.4078+19G= (n.4078+19G=) c.3763+19G= (n.3763+19G=) c.1660+19G= (n.1660+19G=) c.4102+19G= (n.4102+19G=) c.4093+19G= (n.4093+19G=) c.4084+19G= (n.4084+19G=) c.2422+19G= (n.2422+19G=) | |
X | g.108680975G>T | CA658427003 | COL4A5 | c.4087+19G>T (n.4087+19G>T) c.4069+19G>T (n.4069+19G>T) n.581+19G>T n.490+19G>T c.4078+19G>T (n.4078+19G>T) c.3763+19G>T (n.3763+19G>T) c.1660+19G>T (n.1660+19G>T) c.4102+19G>T (n.4102+19G>T) c.4093+19G>T (n.4093+19G>T) c.4084+19G>T (n.4084+19G>T) c.2422+19G>T (n.2422+19G>T) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108680976A= | CA2450716929 | COL4A5 | c.4087+20A= (n.4087+20A=) c.4069+20A= (n.4069+20A=) n.581+20A= n.490+20A= c.4078+20A= (n.4078+20A=) c.3763+20A= (n.3763+20A=) c.1660+20A= (n.1660+20A=) c.4102+20A= (n.4102+20A=) c.4093+20A= (n.4093+20A=) c.4084+20A= (n.4084+20A=) c.2422+20A= (n.2422+20A=) | |
X | g.108680976A>C | CA2579677077 | COL4A5 | c.4087+20A>C (n.4087+20A>C) c.4069+20A>C (n.4069+20A>C) n.581+20A>C n.490+20A>C c.4078+20A>C (n.4078+20A>C) c.3763+20A>C (n.3763+20A>C) c.1660+20A>C (n.1660+20A>C) c.4102+20A>C (n.4102+20A>C) c.4093+20A>C (n.4093+20A>C) c.4084+20A>C (n.4084+20A>C) c.2422+20A>C (n.2422+20A>C) | |
X | g.108680976A>G | CA334054852 | COL4A5 | c.4087+20A>G (n.4087+20A>G) c.4069+20A>G (n.4069+20A>G) n.581+20A>G n.490+20A>G c.4078+20A>G (n.4078+20A>G) c.3763+20A>G (n.3763+20A>G) c.1660+20A>G (n.1660+20A>G) c.4102+20A>G (n.4102+20A>G) c.4093+20A>G (n.4093+20A>G) c.4084+20A>G (n.4084+20A>G) c.2422+20A>G (n.2422+20A>G) | dbSNP |
X | g.108680977T>C | CA869822704 | COL4A5 | c.4087+21T>C (n.4087+21T>C) c.4069+21T>C (n.4069+21T>C) n.581+21T>C n.490+21T>C c.4078+21T>C (n.4078+21T>C) c.3763+21T>C (n.3763+21T>C) c.1660+21T>C (n.1660+21T>C) c.4102+21T>C (n.4102+21T>C) c.4093+21T>C (n.4093+21T>C) c.4084+21T>C (n.4084+21T>C) c.2422+21T>C (n.2422+21T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108680977T= | CA2450716930 | COL4A5 | c.4087+21T= (n.4087+21T=) c.4069+21T= (n.4069+21T=) n.581+21T= n.490+21T= c.4078+21T= (n.4078+21T=) c.3763+21T= (n.3763+21T=) c.1660+21T= (n.1660+21T=) c.4102+21T= (n.4102+21T=) c.4093+21T= (n.4093+21T=) c.4084+21T= (n.4084+21T=) c.2422+21T= (n.2422+21T=) | |
X | g.108680978A>G | CA2694442743 | COL4A5 | c.4087+22A>G (n.4087+22A>G) c.4069+22A>G (n.4069+22A>G) n.581+22A>G n.490+22A>G c.4078+22A>G (n.4078+22A>G) c.3763+22A>G (n.3763+22A>G) c.1660+22A>G (n.1660+22A>G) c.4102+22A>G (n.4102+22A>G) c.4093+22A>G (n.4093+22A>G) c.4084+22A>G (n.4084+22A>G) c.2422+22A>G (n.2422+22A>G) | gnomAD v4 |
X | g.108680979G>C | CA2694442744 | COL4A5 | c.4087+23G>C (n.4087+23G>C) c.4069+23G>C (n.4069+23G>C) n.581+23G>C n.490+23G>C c.4078+23G>C (n.4078+23G>C) c.3763+23G>C (n.3763+23G>C) c.1660+23G>C (n.1660+23G>C) c.4102+23G>C (n.4102+23G>C) c.4093+23G>C (n.4093+23G>C) c.4084+23G>C (n.4084+23G>C) c.2422+23G>C (n.2422+23G>C) | gnomAD v4 |
X | g.108680980T>A | CA2822902277 | COL4A5 | c.4087+24T>A (n.4087+24T>A) c.4069+24T>A (n.4069+24T>A) n.581+24T>A n.490+24T>A c.4078+24T>A (n.4078+24T>A) c.3763+24T>A (n.3763+24T>A) c.1660+24T>A (n.1660+24T>A) c.4102+24T>A (n.4102+24T>A) c.4093+24T>A (n.4093+24T>A) c.4084+24T>A (n.4084+24T>A) c.2422+24T>A (n.2422+24T>A) | |
X | g.108680983T>C | CA2694442745 | COL4A5 | c.4087+27T>C (n.4087+27T>C) c.4069+27T>C (n.4069+27T>C) n.581+27T>C n.490+27T>C c.4078+27T>C (n.4078+27T>C) c.3763+27T>C (n.3763+27T>C) c.1660+27T>C (n.1660+27T>C) c.4102+27T>C (n.4102+27T>C) c.4093+27T>C (n.4093+27T>C) c.4084+27T>C (n.4084+27T>C) c.2422+27T>C (n.2422+27T>C) | gnomAD v4 |
X | g.108680984A>G | CA2694442746 | COL4A5 | c.4087+28A>G (n.4087+28A>G) c.4069+28A>G (n.4069+28A>G) n.581+28A>G n.490+28A>G c.4078+28A>G (n.4078+28A>G) c.3763+28A>G (n.3763+28A>G) c.1660+28A>G (n.1660+28A>G) c.4102+28A>G (n.4102+28A>G) c.4093+28A>G (n.4093+28A>G) c.4084+28A>G (n.4084+28A>G) c.2422+28A>G (n.2422+28A>G) | gnomAD v4 |
X | g.108680985C>A | CA2694442747 | COL4A5 | c.4087+29C>A (n.4087+29C>A) c.4069+29C>A (n.4069+29C>A) n.581+29C>A n.490+29C>A c.4078+29C>A (n.4078+29C>A) c.3763+29C>A (n.3763+29C>A) c.1660+29C>A (n.1660+29C>A) c.4102+29C>A (n.4102+29C>A) c.4093+29C>A (n.4093+29C>A) c.4084+29C>A (n.4084+29C>A) c.2422+29C>A (n.2422+29C>A) | gnomAD v4 |
X | g.108680986C>A | CA2694442749 | COL4A5 | c.4087+30C>A (n.4087+30C>A) c.4069+30C>A (n.4069+30C>A) n.581+30C>A n.490+30C>A c.4078+30C>A (n.4078+30C>A) c.3763+30C>A (n.3763+30C>A) c.1660+30C>A (n.1660+30C>A) c.4102+30C>A (n.4102+30C>A) c.4093+30C>A (n.4093+30C>A) c.4084+30C>A (n.4084+30C>A) c.2422+30C>A (n.2422+30C>A) | gnomAD v4 |
X | g.108680987T>C | CA2694442750 | COL4A5 | c.4087+31T>C (n.4087+31T>C) c.4069+31T>C (n.4069+31T>C) n.581+31T>C n.490+31T>C c.4078+31T>C (n.4078+31T>C) c.3763+31T>C (n.3763+31T>C) c.1660+31T>C (n.1660+31T>C) c.4102+31T>C (n.4102+31T>C) c.4093+31T>C (n.4093+31T>C) c.4084+31T>C (n.4084+31T>C) c.2422+31T>C (n.2422+31T>C) | gnomAD v4 |
X | g.108680988G>A | CA2694442751 | COL4A5 | c.4087+32G>A (n.4087+32G>A) c.4069+32G>A (n.4069+32G>A) n.581+32G>A n.490+32G>A c.4078+32G>A (n.4078+32G>A) c.3763+32G>A (n.3763+32G>A) c.1660+32G>A (n.1660+32G>A) c.4102+32G>A (n.4102+32G>A) c.4093+32G>A (n.4093+32G>A) c.4084+32G>A (n.4084+32G>A) c.2422+32G>A (n.2422+32G>A) | gnomAD v4 |
X | g.108680988G= | CA2450716931 | COL4A5 | c.4087+32G= (n.4087+32G=) c.4069+32G= (n.4069+32G=) n.581+32G= n.490+32G= c.4078+32G= (n.4078+32G=) c.3763+32G= (n.3763+32G=) c.1660+32G= (n.1660+32G=) c.4102+32G= (n.4102+32G=) c.4093+32G= (n.4093+32G=) c.4084+32G= (n.4084+32G=) c.2422+32G= (n.2422+32G=) | |
X | g.108680988G>T | CA643637007 | COL4A5 | c.4087+32G>T (n.4087+32G>T) c.4069+32G>T (n.4069+32G>T) n.581+32G>T n.490+32G>T c.4078+32G>T (n.4078+32G>T) c.3763+32G>T (n.3763+32G>T) c.1660+32G>T (n.1660+32G>T) c.4102+32G>T (n.4102+32G>T) c.4093+32G>T (n.4093+32G>T) c.4084+32G>T (n.4084+32G>T) c.2422+32G>T (n.2422+32G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108680990T>C | CA10489287 | COL4A5 | c.4087+34T>C (n.4087+34T>C) c.4069+34T>C (n.4069+34T>C) n.581+34T>C n.490+34T>C c.4078+34T>C (n.4078+34T>C) c.3763+34T>C (n.3763+34T>C) c.1660+34T>C (n.1660+34T>C) c.4102+34T>C (n.4102+34T>C) c.4093+34T>C (n.4093+34T>C) c.4084+34T>C (n.4084+34T>C) c.2422+34T>C (n.2422+34T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108680990T= | CA2450716932 | COL4A5 | c.4087+34T= (n.4087+34T=) c.4069+34T= (n.4069+34T=) n.581+34T= n.490+34T= c.4078+34T= (n.4078+34T=) c.3763+34T= (n.3763+34T=) c.1660+34T= (n.1660+34T=) c.4102+34T= (n.4102+34T=) c.4093+34T= (n.4093+34T=) c.4084+34T= (n.4084+34T=) c.2422+34T= (n.2422+34T=) | |
X | g.108680991A>G | CA2694442752 | COL4A5 | c.4087+35A>G (n.4087+35A>G) c.4069+35A>G (n.4069+35A>G) n.581+35A>G n.490+35A>G c.4078+35A>G (n.4078+35A>G) c.3763+35A>G (n.3763+35A>G) c.1660+35A>G (n.1660+35A>G) c.4102+35A>G (n.4102+35A>G) c.4093+35A>G (n.4093+35A>G) c.4084+35A>G (n.4084+35A>G) c.2422+35A>G (n.2422+35A>G) | gnomAD v4 |
X | g.108680992C>A | CA2694442753 | COL4A5 | c.4087+36C>A (n.4087+36C>A) c.4069+36C>A (n.4069+36C>A) n.581+36C>A n.490+36C>A c.4078+36C>A (n.4078+36C>A) c.3763+36C>A (n.3763+36C>A) c.1660+36C>A (n.1660+36C>A) c.4102+36C>A (n.4102+36C>A) c.4093+36C>A (n.4093+36C>A) c.4084+36C>A (n.4084+36C>A) c.2422+36C>A (n.2422+36C>A) | gnomAD v4 |
X | g.108680993T>C | CA2694442754 | COL4A5 | c.4087+37T>C (n.4087+37T>C) c.4069+37T>C (n.4069+37T>C) n.581+37T>C n.490+37T>C c.4078+37T>C (n.4078+37T>C) c.3763+37T>C (n.3763+37T>C) c.1660+37T>C (n.1660+37T>C) c.4102+37T>C (n.4102+37T>C) c.4093+37T>C (n.4093+37T>C) c.4084+37T>C (n.4084+37T>C) c.2422+37T>C (n.2422+37T>C) | gnomAD v4 |
X | g.108680994T>C | CA10489288 | COL4A5 | c.4087+38T>C (n.4087+38T>C) c.4069+38T>C (n.4069+38T>C) n.581+38T>C n.490+38T>C c.4078+38T>C (n.4078+38T>C) c.3763+38T>C (n.3763+38T>C) c.1660+38T>C (n.1660+38T>C) c.4102+38T>C (n.4102+38T>C) c.4093+38T>C (n.4093+38T>C) c.4084+38T>C (n.4084+38T>C) c.2422+38T>C (n.2422+38T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108680994T= | CA2450716933 | COL4A5 | c.4087+38T= (n.4087+38T=) c.4069+38T= (n.4069+38T=) n.581+38T= n.490+38T= c.4078+38T= (n.4078+38T=) c.3763+38T= (n.3763+38T=) c.1660+38T= (n.1660+38T=) c.4102+38T= (n.4102+38T=) c.4093+38T= (n.4093+38T=) c.4084+38T= (n.4084+38T=) c.2422+38T= (n.2422+38T=) | |
X | g.108680996G>A | CA334054874 | COL4A5 | c.4087+40G>A (n.4087+40G>A) c.4069+40G>A (n.4069+40G>A) n.581+40G>A n.490+40G>A c.4078+40G>A (n.4078+40G>A) c.3763+40G>A (n.3763+40G>A) c.1660+40G>A (n.1660+40G>A) c.4102+40G>A (n.4102+40G>A) c.4093+40G>A (n.4093+40G>A) c.4084+40G>A (n.4084+40G>A) c.2422+40G>A (n.2422+40G>A) | dbSNP gnomAD v4 |
X | g.108680996G>C | CA2822902278 | COL4A5 | c.4087+40G>C (n.4087+40G>C) c.4069+40G>C (n.4069+40G>C) n.581+40G>C n.490+40G>C c.4078+40G>C (n.4078+40G>C) c.3763+40G>C (n.3763+40G>C) c.1660+40G>C (n.1660+40G>C) c.4102+40G>C (n.4102+40G>C) c.4093+40G>C (n.4093+40G>C) c.4084+40G>C (n.4084+40G>C) c.2422+40G>C (n.2422+40G>C) | |
X | g.108680996G= | CA2450716934 | COL4A5 | c.4087+40G= (n.4087+40G=) c.4069+40G= (n.4069+40G=) n.581+40G= n.490+40G= c.4078+40G= (n.4078+40G=) c.3763+40G= (n.3763+40G=) c.1660+40G= (n.1660+40G=) c.4102+40G= (n.4102+40G=) c.4093+40G= (n.4093+40G=) c.4084+40G= (n.4084+40G=) c.2422+40G= (n.2422+40G=) | |
X | g.108680997A>C | CA2540235663 | COL4A5 | c.4087+41A>C (n.4087+41A>C) c.4069+41A>C (n.4069+41A>C) n.581+41A>C n.490+41A>C c.4078+41A>C (n.4078+41A>C) c.3763+41A>C (n.3763+41A>C) c.1660+41A>C (n.1660+41A>C) c.4102+41A>C (n.4102+41A>C) c.4093+41A>C (n.4093+41A>C) c.4084+41A>C (n.4084+41A>C) c.2422+41A>C (n.2422+41A>C) | |
X | g.108680997A>G | CA2694442755 | COL4A5 | c.4087+41A>G (n.4087+41A>G) c.4069+41A>G (n.4069+41A>G) n.581+41A>G n.490+41A>G c.4078+41A>G (n.4078+41A>G) c.3763+41A>G (n.3763+41A>G) c.1660+41A>G (n.1660+41A>G) c.4102+41A>G (n.4102+41A>G) c.4093+41A>G (n.4093+41A>G) c.4084+41A>G (n.4084+41A>G) c.2422+41A>G (n.2422+41A>G) | gnomAD v4 |
X | g.108680998T>C | CA2694442756 | COL4A5 | c.4087+42T>C (n.4087+42T>C) c.4069+42T>C (n.4069+42T>C) n.581+42T>C n.490+42T>C c.4078+42T>C (n.4078+42T>C) c.3763+42T>C (n.3763+42T>C) c.1660+42T>C (n.1660+42T>C) c.4102+42T>C (n.4102+42T>C) c.4093+42T>C (n.4093+42T>C) c.4084+42T>C (n.4084+42T>C) c.2422+42T>C (n.2422+42T>C) | gnomAD v4 |
X | g.108680999G>A | CA2579677078 | COL4A5 | c.4087+43G>A (n.4087+43G>A) c.4069+43G>A (n.4069+43G>A) n.581+43G>A n.490+43G>A c.4078+43G>A (n.4078+43G>A) c.3763+43G>A (n.3763+43G>A) c.1660+43G>A (n.1660+43G>A) c.4102+43G>A (n.4102+43G>A) c.4093+43G>A (n.4093+43G>A) c.4084+43G>A (n.4084+43G>A) c.2422+43G>A (n.2422+43G>A) | |
X | g.108680999_108681001delinsGCT | CA2450716935 | COL4A5 | c.4087+43_4087+45delinsGCT (n.4087+43_4087+45delinsGCT) c.4069+43_4069+45delinsGCT (n.4069+43_4069+45delinsGCT) n.581+43_581+45delinsGCT n.490+43_490+45delinsGCT c.4078+43_4078+45delinsGCT (n.4078+43_4078+45delinsGCT) c.3763+43_3763+45delinsGCT (n.3763+43_3763+45delinsGCT) c.1660+43_1660+45delinsGCT (n.1660+43_1660+45delinsGCT) c.4102+43_4102+45delinsGCT (n.4102+43_4102+45delinsGCT) c.4093+43_4093+45delinsGCT (n.4093+43_4093+45delinsGCT) c.4084+43_4084+45delinsGCT (n.4084+43_4084+45delinsGCT) c.2422+43_2422+45delinsGCT (n.2422+43_2422+45delinsGCT) | |
X | g.108681000C>A | CA2579677079 | COL4A5 | c.4087+44C>A (n.4087+44C>A) c.4069+44C>A (n.4069+44C>A) n.581+44C>A n.490+44C>A c.4078+44C>A (n.4078+44C>A) c.3763+44C>A (n.3763+44C>A) c.1660+44C>A (n.1660+44C>A) c.4102+44C>A (n.4102+44C>A) c.4093+44C>A (n.4093+44C>A) c.4084+44C>A (n.4084+44C>A) c.2422+44C>A (n.2422+44C>A) | gnomAD v4 |
X | g.108681000_108681001del | CA643637008 | COL4A5 | c.4087+44_4087+45del (n.4087+44_4087+45del) c.4069+44_4069+45del (n.4069+44_4069+45del) n.581+44_581+45del n.490+44_490+45del c.4078+44_4078+45del (n.4078+44_4078+45del) c.3763+44_3763+45del (n.3763+44_3763+45del) c.1660+44_1660+45del (n.1660+44_1660+45del) c.4102+44_4102+45del (n.4102+44_4102+45del) c.4093+44_4093+45del (n.4093+44_4093+45del) c.4084+44_4084+45del (n.4084+44_4084+45del) c.2422+44_2422+45del (n.2422+44_2422+45del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108681002T>C | CA643637009 | COL4A5 | c.4087+46T>C (n.4087+46T>C) c.4069+46T>C (n.4069+46T>C) n.581+46T>C n.490+46T>C c.4078+46T>C (n.4078+46T>C) c.3763+46T>C (n.3763+46T>C) c.1660+46T>C (n.1660+46T>C) c.4102+46T>C (n.4102+46T>C) c.4093+46T>C (n.4093+46T>C) c.4084+46T>C (n.4084+46T>C) c.2422+46T>C (n.2422+46T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108681002T= | CA2450716936 | COL4A5 | c.4087+46T= (n.4087+46T=) c.4069+46T= (n.4069+46T=) n.581+46T= n.490+46T= c.4078+46T= (n.4078+46T=) c.3763+46T= (n.3763+46T=) c.1660+46T= (n.1660+46T=) c.4102+46T= (n.4102+46T=) c.4093+46T= (n.4093+46T=) c.4084+46T= (n.4084+46T=) c.2422+46T= (n.2422+46T=) | |
X | g.108681003T>A | CA2694442757 | COL4A5 | c.4087+47T>A (n.4087+47T>A) c.4069+47T>A (n.4069+47T>A) n.581+47T>A n.490+47T>A c.4078+47T>A (n.4078+47T>A) c.3763+47T>A (n.3763+47T>A) c.1660+47T>A (n.1660+47T>A) c.4102+47T>A (n.4102+47T>A) c.4093+47T>A (n.4093+47T>A) c.4084+47T>A (n.4084+47T>A) c.2422+47T>A (n.2422+47T>A) | gnomAD v4 |
X | g.108681004A= | CA2450716937 | COL4A5 | c.4087+48A= (n.4087+48A=) c.4069+48A= (n.4069+48A=) n.581+48A= n.490+48A= c.4078+48A= (n.4078+48A=) c.3763+48A= (n.3763+48A=) c.1660+48A= (n.1660+48A=) c.4102+48A= (n.4102+48A=) c.4093+48A= (n.4093+48A=) c.4084+48A= (n.4084+48A=) c.2422+48A= (n.2422+48A=) | |
X | g.108681004A>G | CA643637010 | COL4A5 | c.4087+48A>G (n.4087+48A>G) c.4069+48A>G (n.4069+48A>G) n.581+48A>G n.490+48A>G c.4078+48A>G (n.4078+48A>G) c.3763+48A>G (n.3763+48A>G) c.1660+48A>G (n.1660+48A>G) c.4102+48A>G (n.4102+48A>G) c.4093+48A>G (n.4093+48A>G) c.4084+48A>G (n.4084+48A>G) c.2422+48A>G (n.2422+48A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108681006A= | CA2450716938 | COL4A5 | c.4087+50A= (n.4087+50A=) c.4069+50A= (n.4069+50A=) n.581+50A= n.490+50A= c.4078+50A= (n.4078+50A=) c.3763+50A= (n.3763+50A=) c.1660+50A= (n.1660+50A=) c.4102+50A= (n.4102+50A=) c.4093+50A= (n.4093+50A=) c.4084+50A= (n.4084+50A=) c.2422+50A= (n.2422+50A=) | |
X | g.108681006A>G | CA643637011 | COL4A5 | c.4087+50A>G (n.4087+50A>G) c.4069+50A>G (n.4069+50A>G) n.581+50A>G n.490+50A>G c.4078+50A>G (n.4078+50A>G) c.3763+50A>G (n.3763+50A>G) c.1660+50A>G (n.1660+50A>G) c.4102+50A>G (n.4102+50A>G) c.4093+50A>G (n.4093+50A>G) c.4084+50A>G (n.4084+50A>G) c.2422+50A>G (n.2422+50A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108681007G= | CA2450716939 | COL4A5 | c.4087+51G= (n.4087+51G=) c.4069+51G= (n.4069+51G=) n.581+51G= n.490+51G= c.4078+51G= (n.4078+51G=) c.3763+51G= (n.3763+51G=) c.1660+51G= (n.1660+51G=) c.4102+51G= (n.4102+51G=) c.4093+51G= (n.4093+51G=) c.4084+51G= (n.4084+51G=) c.2422+51G= (n.2422+51G=) | |
X | g.108681007G>T | CA643637012 | COL4A5 | c.4087+51G>T (n.4087+51G>T) c.4069+51G>T (n.4069+51G>T) n.581+51G>T n.490+51G>T c.4078+51G>T (n.4078+51G>T) c.3763+51G>T (n.3763+51G>T) c.1660+51G>T (n.1660+51G>T) c.4102+51G>T (n.4102+51G>T) c.4093+51G>T (n.4093+51G>T) c.4084+51G>T (n.4084+51G>T) c.2422+51G>T (n.2422+51G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108681008A>G | CA2694442758 | COL4A5 | c.4087+52A>G (n.4087+52A>G) c.4069+52A>G (n.4069+52A>G) n.581+52A>G n.490+52A>G c.4078+52A>G (n.4078+52A>G) c.3763+52A>G (n.3763+52A>G) c.1660+52A>G (n.1660+52A>G) c.4102+52A>G (n.4102+52A>G) c.4093+52A>G (n.4093+52A>G) c.4084+52A>G (n.4084+52A>G) c.2422+52A>G (n.2422+52A>G) | gnomAD v4 |
X | g.108681009A= | CA2450716940 | COL4A5 | c.4087+53A= (n.4087+53A=) c.4069+53A= (n.4069+53A=) n.581+53A= n.490+53A= c.4078+53A= (n.4078+53A=) c.3763+53A= (n.3763+53A=) c.1660+53A= (n.1660+53A=) c.4102+53A= (n.4102+53A=) c.4093+53A= (n.4093+53A=) c.4084+53A= (n.4084+53A=) c.2422+53A= (n.2422+53A=) | |
X | g.108681009A>T | CA2450716941 | COL4A5 | c.4087+53A>T (n.4087+53A>T) c.4069+53A>T (n.4069+53A>T) n.581+53A>T n.490+53A>T c.4078+53A>T (n.4078+53A>T) c.3763+53A>T (n.3763+53A>T) c.1660+53A>T (n.1660+53A>T) c.4102+53A>T (n.4102+53A>T) c.4093+53A>T (n.4093+53A>T) c.4084+53A>T (n.4084+53A>T) c.2422+53A>T (n.2422+53A>T) | dbSNP |
X | g.108681010T>A | CA2822902279 | COL4A5 | c.4087+54T>A (n.4087+54T>A) c.4069+54T>A (n.4069+54T>A) n.581+54T>A n.490+54T>A c.4078+54T>A (n.4078+54T>A) c.3763+54T>A (n.3763+54T>A) c.1660+54T>A (n.1660+54T>A) c.4102+54T>A (n.4102+54T>A) c.4093+54T>A (n.4093+54T>A) c.4084+54T>A (n.4084+54T>A) c.2422+54T>A (n.2422+54T>A) | |
X | g.108681012T>G | CA643637013 | COL4A5 | c.4087+56T>G (n.4087+56T>G) c.4069+56T>G (n.4069+56T>G) n.581+56T>G n.490+56T>G c.4078+56T>G (n.4078+56T>G) c.3763+56T>G (n.3763+56T>G) c.1660+56T>G (n.1660+56T>G) c.4102+56T>G (n.4102+56T>G) c.4093+56T>G (n.4093+56T>G) c.4084+56T>G (n.4084+56T>G) c.2422+56T>G (n.2422+56T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108681012T= | CA2450716942 | COL4A5 | c.4087+56T= (n.4087+56T=) c.4069+56T= (n.4069+56T=) n.581+56T= n.490+56T= c.4078+56T= (n.4078+56T=) c.3763+56T= (n.3763+56T=) c.1660+56T= (n.1660+56T=) c.4102+56T= (n.4102+56T=) c.4093+56T= (n.4093+56T=) c.4084+56T= (n.4084+56T=) c.2422+56T= (n.2422+56T=) |