Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108687587G>A | CA413854281 | COL4A5 | c.4421G>A (p.Ser1474Asn) c.4403G>A (p.Ser1468Asn) n.915G>A c.217G>A c.4412G>A (p.Ser1471Asn) c.4097G>A (p.Ser1366Asn) c.1994G>A (p.Ser665Asn) c.4436G>A (p.Ser1479Asn) c.4427G>A (p.Ser1476Asn) c.4418G>A (p.Ser1473Asn) c.2756G>A (p.Ser919Asn) | |
X | g.108687587G>C | CA413854282 | COL4A5 | c.4421G>C (p.Ser1474Thr) c.4403G>C (p.Ser1468Thr) n.915G>C c.217G>C c.4412G>C (p.Ser1471Thr) c.4097G>C (p.Ser1366Thr) c.1994G>C (p.Ser665Thr) c.4436G>C (p.Ser1479Thr) c.4427G>C (p.Ser1476Thr) c.4418G>C (p.Ser1473Thr) c.2756G>C (p.Ser919Thr) | |
X | g.108687587G>T | CA413854283 | COL4A5 | c.4421G>T (p.Ser1474Ile) c.4403G>T (p.Ser1468Ile) n.915G>T c.217G>T c.4412G>T (p.Ser1471Ile) c.4097G>T (p.Ser1366Ile) c.1994G>T (p.Ser665Ile) c.4436G>T (p.Ser1479Ile) c.4427G>T (p.Ser1476Ile) c.4418G>T (p.Ser1473Ile) c.2756G>T (p.Ser919Ile) | |
X | g.108687588C>A | CA413854285 | COL4A5 | c.4422C>A (p.Ser1474Arg) c.4404C>A (p.Ser1468Arg) n.916C>A c.218C>A c.4413C>A (p.Ser1471Arg) c.4098C>A (p.Ser1366Arg) c.1995C>A (p.Ser665Arg) c.4437C>A (p.Ser1479Arg) c.4428C>A (p.Ser1476Arg) c.4419C>A (p.Ser1473Arg) c.2757C>A (p.Ser919Arg) | |
X | g.108687588C>G | CA413854287 | COL4A5 | c.4422C>G (p.Ser1474Arg) c.4404C>G (p.Ser1468Arg) n.916C>G c.218C>G c.4413C>G (p.Ser1471Arg) c.4098C>G (p.Ser1366Arg) c.1995C>G (p.Ser665Arg) c.4437C>G (p.Ser1479Arg) c.4428C>G (p.Ser1476Arg) c.4419C>G (p.Ser1473Arg) c.2757C>G (p.Ser919Arg) | |
X | g.108687588C>T | CA517924575 | COL4A5 | c.4422C>T (p.Ser1474=) c.4404C>T (p.Ser1468=) n.916C>T c.218C>T c.4413C>T (p.Ser1471=) c.4098C>T (p.Ser1366=) c.1995C>T (p.Ser665=) c.4437C>T (p.Ser1479=) c.4428C>T (p.Ser1476=) c.4419C>T (p.Ser1473=) c.2757C>T (p.Ser919=) | |
X | g.108687589C>A | CA413854290 | COL4A5 | c.4423C>A (p.Gln1475Lys) c.4405C>A (p.Gln1469Lys) n.917C>A c.219C>A c.4414C>A (p.Gln1472Lys) c.4099C>A (p.Gln1367Lys) c.1996C>A (p.Gln666Lys) c.4438C>A (p.Gln1480Lys) c.4429C>A (p.Gln1477Lys) c.4420C>A (p.Gln1474Lys) c.2758C>A (p.Gln920Lys) | |
X | g.108687589C>G | CA413854291 | COL4A5 | c.4423C>G (p.Gln1475Glu) c.4405C>G (p.Gln1469Glu) n.917C>G c.219C>G c.4414C>G (p.Gln1472Glu) c.4099C>G (p.Gln1367Glu) c.1996C>G (p.Gln666Glu) c.4438C>G (p.Gln1480Glu) c.4429C>G (p.Gln1477Glu) c.4420C>G (p.Gln1474Glu) c.2758C>G (p.Gln920Glu) | |
X | g.108687589C>T | CA413854293 | COL4A5 | c.4423C>T (p.Gln1475Ter) c.4405C>T (p.Gln1469Ter) n.917C>T c.219C>T c.4414C>T (p.Gln1472Ter) c.4099C>T (p.Gln1367Ter) c.1996C>T (p.Gln666Ter) c.4438C>T (p.Gln1480Ter) c.4429C>T (p.Gln1477Ter) c.4420C>T (p.Gln1474Ter) c.2758C>T (p.Gln920Ter) | |
X | g.108687590A>C | CA413854299 | COL4A5 | c.4424A>C (p.Gln1475Pro) c.4406A>C (p.Gln1469Pro) n.918A>C c.220A>C c.4415A>C (p.Gln1472Pro) c.4100A>C (p.Gln1367Pro) c.1997A>C (p.Gln666Pro) c.4439A>C (p.Gln1480Pro) c.4430A>C (p.Gln1477Pro) c.4421A>C (p.Gln1474Pro) c.2759A>C (p.Gln920Pro) | |
X | g.108687590A>G | CA413854300 | COL4A5 | c.4424A>G (p.Gln1475Arg) c.4406A>G (p.Gln1469Arg) n.918A>G c.220A>G c.4415A>G (p.Gln1472Arg) c.4100A>G (p.Gln1367Arg) c.1997A>G (p.Gln666Arg) c.4439A>G (p.Gln1480Arg) c.4430A>G (p.Gln1477Arg) c.4421A>G (p.Gln1474Arg) c.2759A>G (p.Gln920Arg) | |
X | g.108687590A>T | CA413854306 | COL4A5 | c.4424A>T (p.Gln1475Leu) c.4406A>T (p.Gln1469Leu) n.918A>T c.220A>T c.4415A>T (p.Gln1472Leu) c.4100A>T (p.Gln1367Leu) c.1997A>T (p.Gln666Leu) c.4439A>T (p.Gln1480Leu) c.4430A>T (p.Gln1477Leu) c.4421A>T (p.Gln1474Leu) c.2759A>T (p.Gln920Leu) | gnomAD v4 |
X | g.108687591G>A | CA517924579 | COL4A5 | c.4425G>A (p.Gln1475=) c.4407G>A (p.Gln1469=) n.919G>A c.221G>A c.4416G>A (p.Gln1472=) c.4101G>A (p.Gln1367=) c.1998G>A (p.Gln666=) c.4440G>A (p.Gln1480=) c.4431G>A (p.Gln1477=) c.4422G>A (p.Gln1474=) c.2760G>A (p.Gln920=) | |
X | g.108687591G>C | CA413854314 | COL4A5 | c.4425G>C (p.Gln1475His) c.4407G>C (p.Gln1469His) n.919G>C c.221G>C c.4416G>C (p.Gln1472His) c.4101G>C (p.Gln1367His) c.1998G>C (p.Gln666His) c.4440G>C (p.Gln1480His) c.4431G>C (p.Gln1477His) c.4422G>C (p.Gln1474His) c.2760G>C (p.Gln920His) | |
X | g.108687591G>T | CA413854308 | COL4A5 | c.4425G>T (p.Gln1475His) c.4407G>T (p.Gln1469His) n.919G>T c.221G>T c.4416G>T (p.Gln1472His) c.4101G>T (p.Gln1367His) c.1998G>T (p.Gln666His) c.4440G>T (p.Gln1480His) c.4431G>T (p.Gln1477His) c.4422G>T (p.Gln1474His) c.2760G>T (p.Gln920His) | |
X | g.108687592A>C | CA413854316 | COL4A5 | c.4426A>C (p.Thr1476Pro) c.4408A>C (p.Thr1470Pro) n.920A>C c.222A>C c.4417A>C (p.Thr1473Pro) c.4102A>C (p.Thr1368Pro) c.1999A>C (p.Thr667Pro) c.4441A>C (p.Thr1481Pro) c.4432A>C (p.Thr1478Pro) c.4423A>C (p.Thr1475Pro) c.2761A>C (p.Thr921Pro) | gnomAD v4 |
X | g.108687592A>G | CA413854318 | COL4A5 | c.4426A>G (p.Thr1476Ala) c.4408A>G (p.Thr1470Ala) n.920A>G c.222A>G c.4417A>G (p.Thr1473Ala) c.4102A>G (p.Thr1368Ala) c.1999A>G (p.Thr667Ala) c.4441A>G (p.Thr1481Ala) c.4432A>G (p.Thr1478Ala) c.4423A>G (p.Thr1475Ala) c.2761A>G (p.Thr921Ala) | |
X | g.108687592A>T | CA413854321 | COL4A5 | c.4426A>T (p.Thr1476Ser) c.4408A>T (p.Thr1470Ser) n.920A>T c.222A>T c.4417A>T (p.Thr1473Ser) c.4102A>T (p.Thr1368Ser) c.1999A>T (p.Thr667Ser) c.4441A>T (p.Thr1481Ser) c.4432A>T (p.Thr1478Ser) c.4423A>T (p.Thr1475Ser) c.2761A>T (p.Thr921Ser) | |
X | g.108687593C>A | CA413854323 | COL4A5 | c.4427C>A (p.Thr1476Lys) c.4409C>A (p.Thr1470Lys) n.921C>A c.223C>A c.4418C>A (p.Thr1473Lys) c.4103C>A (p.Thr1368Lys) c.2000C>A (p.Thr667Lys) c.4442C>A (p.Thr1481Lys) c.4433C>A (p.Thr1478Lys) c.4424C>A (p.Thr1475Lys) c.2762C>A (p.Thr921Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108687593C= | CA2450719114 | COL4A5 | c.4427C= (p.Thr1476=) c.4409C= (p.Thr1470=) n.921C= c.223C= c.4418C= (p.Thr1473=) c.4103C= (p.Thr1368=) c.2000C= (p.Thr667=) c.4442C= (p.Thr1481=) c.4433C= (p.Thr1478=) c.4424C= (p.Thr1475=) c.2762C= (p.Thr921=) | |
X | g.108687593C>G | CA413854324 | COL4A5 | c.4427C>G (p.Thr1476Arg) c.4409C>G (p.Thr1470Arg) n.921C>G c.223C>G c.4418C>G (p.Thr1473Arg) c.4103C>G (p.Thr1368Arg) c.2000C>G (p.Thr667Arg) c.4442C>G (p.Thr1481Arg) c.4433C>G (p.Thr1478Arg) c.4424C>G (p.Thr1475Arg) c.2762C>G (p.Thr921Arg) | COSMIC |
X | g.108687593C>T | CA413854330 | COL4A5 | c.4427C>T (p.Thr1476Ile) c.4409C>T (p.Thr1470Ile) n.921C>T c.223C>T c.4418C>T (p.Thr1473Ile) c.4103C>T (p.Thr1368Ile) c.2000C>T (p.Thr667Ile) c.4442C>T (p.Thr1481Ile) c.4433C>T (p.Thr1478Ile) c.4424C>T (p.Thr1475Ile) c.2762C>T (p.Thr921Ile) | gnomAD v4 |
X | g.108687594A>C | CA517924583 | COL4A5 | c.4428A>C (p.Thr1476=) c.4410A>C (p.Thr1470=) n.922A>C c.224A>C c.4419A>C (p.Thr1473=) c.4104A>C (p.Thr1368=) c.2001A>C (p.Thr667=) c.4443A>C (p.Thr1481=) c.4434A>C (p.Thr1478=) c.4425A>C (p.Thr1475=) c.2763A>C (p.Thr921=) | |
X | g.108687594A>G | CA517924584 | COL4A5 | c.4428A>G (p.Thr1476=) c.4410A>G (p.Thr1470=) n.922A>G c.224A>G c.4419A>G (p.Thr1473=) c.4104A>G (p.Thr1368=) c.2001A>G (p.Thr667=) c.4443A>G (p.Thr1481=) c.4434A>G (p.Thr1478=) c.4425A>G (p.Thr1475=) c.2763A>G (p.Thr921=) | |
X | g.108687594A>T | CA517924585 | COL4A5 | c.4428A>T (p.Thr1476=) c.4410A>T (p.Thr1470=) n.922A>T c.224A>T c.4419A>T (p.Thr1473=) c.4104A>T (p.Thr1368=) c.2001A>T (p.Thr667=) c.4443A>T (p.Thr1481=) c.4434A>T (p.Thr1478=) c.4425A>T (p.Thr1475=) c.2763A>T (p.Thr921=) | |
X | g.108687595A>C | CA413854335 | COL4A5 | c.4429A>C (p.Thr1477Pro) c.4411A>C (p.Thr1471Pro) n.923A>C c.225A>C c.4420A>C (p.Thr1474Pro) c.4105A>C (p.Thr1369Pro) c.2002A>C (p.Thr668Pro) c.4444A>C (p.Thr1482Pro) c.4435A>C (p.Thr1479Pro) c.4426A>C (p.Thr1476Pro) c.2764A>C (p.Thr922Pro) | |
X | g.108687595A>G | CA413854333 | COL4A5 | c.4429A>G (p.Thr1477Ala) c.4411A>G (p.Thr1471Ala) n.923A>G c.225A>G c.4420A>G (p.Thr1474Ala) c.4105A>G (p.Thr1369Ala) c.2002A>G (p.Thr668Ala) c.4444A>G (p.Thr1482Ala) c.4435A>G (p.Thr1479Ala) c.4426A>G (p.Thr1476Ala) c.2764A>G (p.Thr922Ala) | |
X | g.108687595A>T | CA413854334 | COL4A5 | c.4429A>T (p.Thr1477Ser) c.4411A>T (p.Thr1471Ser) n.923A>T c.225A>T c.4420A>T (p.Thr1474Ser) c.4105A>T (p.Thr1369Ser) c.2002A>T (p.Thr668Ser) c.4444A>T (p.Thr1482Ser) c.4435A>T (p.Thr1479Ser) c.4426A>T (p.Thr1476Ser) c.2764A>T (p.Thr922Ser) | |
X | g.108687596C>A | CA413854336 | COL4A5 | c.4430C>A (p.Thr1477Lys) c.4412C>A (p.Thr1471Lys) n.924C>A c.226C>A c.4421C>A (p.Thr1474Lys) c.4106C>A (p.Thr1369Lys) c.2003C>A (p.Thr668Lys) c.4445C>A (p.Thr1482Lys) c.4436C>A (p.Thr1479Lys) c.4427C>A (p.Thr1476Lys) c.2765C>A (p.Thr922Lys) | gnomAD v4 |
X | g.108687596C= | CA2450719117 | COL4A5 | c.4430C= (p.Thr1477=) c.4412C= (p.Thr1471=) n.924C= c.226C= c.4421C= (p.Thr1474=) c.4106C= (p.Thr1369=) c.2003C= (p.Thr668=) c.4445C= (p.Thr1482=) c.4436C= (p.Thr1479=) c.4427C= (p.Thr1476=) c.2765C= (p.Thr922=) | |
X | g.108687596C>G | CA334059132 | COL4A5 | c.4430C>G (p.Thr1477Arg) c.4412C>G (p.Thr1471Arg) n.924C>G c.226C>G c.4421C>G (p.Thr1474Arg) c.4106C>G (p.Thr1369Arg) c.2003C>G (p.Thr668Arg) c.4445C>G (p.Thr1482Arg) c.4436C>G (p.Thr1479Arg) c.4427C>G (p.Thr1476Arg) c.2765C>G (p.Thr922Arg) | dbSNP gnomAD v4 |
X | g.108687596C>T | CA10489350 | COL4A5 | c.4430C>T (p.Thr1477Met) c.4412C>T (p.Thr1471Met) n.924C>T c.226C>T c.4421C>T (p.Thr1474Met) c.4106C>T (p.Thr1369Met) c.2003C>T (p.Thr668Met) c.4445C>T (p.Thr1482Met) c.4436C>T (p.Thr1479Met) c.4427C>T (p.Thr1476Met) c.2765C>T (p.Thr922Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108687597G>A | CA10489352 | COL4A5 | c.4431G>A (p.Thr1477=) c.4413G>A (p.Thr1471=) n.925G>A c.227G>A c.4422G>A (p.Thr1474=) c.4107G>A (p.Thr1369=) c.2004G>A (p.Thr668=) c.4446G>A (p.Thr1482=) c.4437G>A (p.Thr1479=) c.4428G>A (p.Thr1476=) c.2766G>A (p.Thr922=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108687597G>C | CA10489351 | COL4A5 | c.4431G>C (p.Thr1477=) c.4413G>C (p.Thr1471=) n.925G>C c.227G>C c.4422G>C (p.Thr1474=) c.4107G>C (p.Thr1369=) c.2004G>C (p.Thr668=) c.4446G>C (p.Thr1482=) c.4437G>C (p.Thr1479=) c.4428G>C (p.Thr1476=) c.2766G>C (p.Thr922=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108687597G= | CA2450719125 | COL4A5 | c.4431G= (p.Thr1477=) c.4413G= (p.Thr1471=) n.925G= c.227G= c.4422G= (p.Thr1474=) c.4107G= (p.Thr1369=) c.2004G= (p.Thr668=) c.4446G= (p.Thr1482=) c.4437G= (p.Thr1479=) c.4428G= (p.Thr1476=) c.2766G= (p.Thr922=) | |
X | g.108687597G>T | CA517924587 | COL4A5 | c.4431G>T (p.Thr1477=) c.4413G>T (p.Thr1471=) n.925G>T c.227G>T c.4422G>T (p.Thr1474=) c.4107G>T (p.Thr1369=) c.2004G>T (p.Thr668=) c.4446G>T (p.Thr1482=) c.4437G>T (p.Thr1479=) c.4428G>T (p.Thr1476=) c.2766G>T (p.Thr922=) | |
X | g.108687598del | CA2580100172 | COL4A5 | c.4432del (p.Asp1478MetfsTer?) c.4414del (p.Asp1472MetfsTer?) n.926del c.228del c.4423del (p.Asp1475MetfsTer?) c.4108del (p.Asp1370MetfsTer?) c.2005del (p.Asp669MetfsTer?) c.4447del (p.Asp1483MetfsTer?) c.4438del (p.Asp1480MetfsTer?) c.4429del (p.Asp1477MetfsTer?) c.2767del (p.Asp923MetfsTer?) | ClinVar |
X | g.108687598G>A | CA413854342 | COL4A5 | c.4432G>A (p.Asp1478Asn) c.4414G>A (p.Asp1472Asn) n.926G>A c.228G>A c.4423G>A (p.Asp1475Asn) c.4108G>A (p.Asp1370Asn) c.2005G>A (p.Asp669Asn) c.4447G>A (p.Asp1483Asn) c.4438G>A (p.Asp1480Asn) c.4429G>A (p.Asp1477Asn) c.2767G>A (p.Asp923Asn) | dbSNP gnomAD v4 |
X | g.108687598G>C | CA413854343 | COL4A5 | c.4432G>C (p.Asp1478His) c.4414G>C (p.Asp1472His) n.926G>C c.228G>C c.4423G>C (p.Asp1475His) c.4108G>C (p.Asp1370His) c.2005G>C (p.Asp669His) c.4447G>C (p.Asp1483His) c.4438G>C (p.Asp1480His) c.4429G>C (p.Asp1477His) c.2767G>C (p.Asp923His) | |
X | g.108687598G= | CA2450719130 | COL4A5 | c.4432G= (p.Asp1478=) c.4414G= (p.Asp1472=) n.926G= c.228G= c.4423G= (p.Asp1475=) c.4108G= (p.Asp1370=) c.2005G= (p.Asp669=) c.4447G= (p.Asp1483=) c.4438G= (p.Asp1480=) c.4429G= (p.Asp1477=) c.2767G= (p.Asp923=) | |
X | g.108687598G>T | CA413854344 | COL4A5 | c.4432G>T (p.Asp1478Tyr) c.4414G>T (p.Asp1472Tyr) n.926G>T c.228G>T c.4423G>T (p.Asp1475Tyr) c.4108G>T (p.Asp1370Tyr) c.2005G>T (p.Asp669Tyr) c.4447G>T (p.Asp1483Tyr) c.4438G>T (p.Asp1480Tyr) c.4429G>T (p.Asp1477Tyr) c.2767G>T (p.Asp923Tyr) | |
X | g.108687599A>C | CA413854345 | COL4A5 | c.4433A>C (p.Asp1478Ala) c.4415A>C (p.Asp1472Ala) n.927A>C c.229A>C c.4424A>C (p.Asp1475Ala) c.4109A>C (p.Asp1370Ala) c.2006A>C (p.Asp669Ala) c.4448A>C (p.Asp1483Ala) c.4439A>C (p.Asp1480Ala) c.4430A>C (p.Asp1477Ala) c.2768A>C (p.Asp923Ala) | |
X | g.108687599A>G | CA413854346 | COL4A5 | c.4433A>G (p.Asp1478Gly) c.4415A>G (p.Asp1472Gly) n.927A>G c.229A>G c.4424A>G (p.Asp1475Gly) c.4109A>G (p.Asp1370Gly) c.2006A>G (p.Asp669Gly) c.4448A>G (p.Asp1483Gly) c.4439A>G (p.Asp1480Gly) c.4430A>G (p.Asp1477Gly) c.2768A>G (p.Asp923Gly) | gnomAD v4 |
X | g.108687599A>T | CA413854347 | COL4A5 | c.4433A>T (p.Asp1478Val) c.4415A>T (p.Asp1472Val) n.927A>T c.229A>T c.4424A>T (p.Asp1475Val) c.4109A>T (p.Asp1370Val) c.2006A>T (p.Asp669Val) c.4448A>T (p.Asp1483Val) c.4439A>T (p.Asp1480Val) c.4430A>T (p.Asp1477Val) c.2768A>T (p.Asp923Val) | |
X | g.108687600T>A | CA413854348 | COL4A5 | c.4434T>A (p.Asp1478Glu) c.4416T>A (p.Asp1472Glu) n.928T>A c.230T>A c.4425T>A (p.Asp1475Glu) c.4110T>A (p.Asp1370Glu) c.2007T>A (p.Asp669Glu) c.4449T>A (p.Asp1483Glu) c.4440T>A (p.Asp1480Glu) c.4431T>A (p.Asp1477Glu) c.2769T>A (p.Asp923Glu) | |
X | g.108687600T>C | CA517924591 | COL4A5 | c.4434T>C (p.Asp1478=) c.4416T>C (p.Asp1472=) n.928T>C c.230T>C c.4425T>C (p.Asp1475=) c.4110T>C (p.Asp1370=) c.2007T>C (p.Asp669=) c.4449T>C (p.Asp1483=) c.4440T>C (p.Asp1480=) c.4431T>C (p.Asp1477=) c.2769T>C (p.Asp923=) | |
X | g.108687600T>G | CA413854349 | COL4A5 | c.4434T>G (p.Asp1478Glu) c.4416T>G (p.Asp1472Glu) n.928T>G c.230T>G c.4425T>G (p.Asp1475Glu) c.4110T>G (p.Asp1370Glu) c.2007T>G (p.Asp669Glu) c.4449T>G (p.Asp1483Glu) c.4440T>G (p.Asp1480Glu) c.4431T>G (p.Asp1477Glu) c.2769T>G (p.Asp923Glu) | |
X | g.108687601G>A | CA413854351 | COL4A5 | c.4435G>A (p.Ala1479Thr) c.4417G>A (p.Ala1473Thr) n.929G>A c.231G>A c.4426G>A (p.Ala1476Thr) c.4111G>A (p.Ala1371Thr) c.2008G>A (p.Ala670Thr) c.4450G>A (p.Ala1484Thr) c.4441G>A (p.Ala1481Thr) c.4432G>A (p.Ala1478Thr) c.2770G>A (p.Ala924Thr) | |
X | g.108687601G>C | CA413854357 | COL4A5 | c.4435G>C (p.Ala1479Pro) c.4417G>C (p.Ala1473Pro) n.929G>C c.231G>C c.4426G>C (p.Ala1476Pro) c.4111G>C (p.Ala1371Pro) c.2008G>C (p.Ala670Pro) c.4450G>C (p.Ala1484Pro) c.4441G>C (p.Ala1481Pro) c.4432G>C (p.Ala1478Pro) c.2770G>C (p.Ala924Pro) | |
X | g.108687601G>T | CA413854352 | COL4A5 | c.4435G>T (p.Ala1479Ser) c.4417G>T (p.Ala1473Ser) n.929G>T c.231G>T c.4426G>T (p.Ala1476Ser) c.4111G>T (p.Ala1371Ser) c.2008G>T (p.Ala670Ser) c.4450G>T (p.Ala1484Ser) c.4441G>T (p.Ala1481Ser) c.4432G>T (p.Ala1478Ser) c.2770G>T (p.Ala924Ser) | |
X | g.108687602C>A | CA413854359 | COL4A5 | c.4436C>A (p.Ala1479Glu) c.4418C>A (p.Ala1473Glu) n.930C>A c.232C>A c.4427C>A (p.Ala1476Glu) c.4112C>A (p.Ala1371Glu) c.2009C>A (p.Ala670Glu) c.4451C>A (p.Ala1484Glu) c.4442C>A (p.Ala1481Glu) c.4433C>A (p.Ala1478Glu) c.2771C>A (p.Ala924Glu) | gnomAD v4 |
X | g.108687602C= | CA2450719133 | COL4A5 | c.4436C= (p.Ala1479=) c.4418C= (p.Ala1473=) n.930C= c.232C= c.4427C= (p.Ala1476=) c.4112C= (p.Ala1371=) c.2009C= (p.Ala670=) c.4451C= (p.Ala1484=) c.4442C= (p.Ala1481=) c.4433C= (p.Ala1478=) c.2771C= (p.Ala924=) | |
X | g.108687602C>G | CA413854370 | COL4A5 | c.4436C>G (p.Ala1479Gly) c.4418C>G (p.Ala1473Gly) n.930C>G c.232C>G c.4427C>G (p.Ala1476Gly) c.4112C>G (p.Ala1371Gly) c.2009C>G (p.Ala670Gly) c.4451C>G (p.Ala1484Gly) c.4442C>G (p.Ala1481Gly) c.4433C>G (p.Ala1478Gly) c.2771C>G (p.Ala924Gly) | |
X | g.108687602C>T | CA413854377 | COL4A5 | c.4436C>T (p.Ala1479Val) c.4418C>T (p.Ala1473Val) n.930C>T c.232C>T c.4427C>T (p.Ala1476Val) c.4112C>T (p.Ala1371Val) c.2009C>T (p.Ala670Val) c.4451C>T (p.Ala1484Val) c.4442C>T (p.Ala1481Val) c.4433C>T (p.Ala1478Val) c.2771C>T (p.Ala924Val) | dbSNP gnomAD v4 |
X | g.108687603A>C | CA517924597 | COL4A5 | c.4437A>C (p.Ala1479=) c.4419A>C (p.Ala1473=) n.931A>C c.233A>C c.4428A>C (p.Ala1476=) c.4113A>C (p.Ala1371=) c.2010A>C (p.Ala670=) c.4452A>C (p.Ala1484=) c.4443A>C (p.Ala1481=) c.4434A>C (p.Ala1478=) c.2772A>C (p.Ala924=) | |
X | g.108687603A>G | CA517924596 | COL4A5 | c.4437A>G (p.Ala1479=) c.4419A>G (p.Ala1473=) n.931A>G c.233A>G c.4428A>G (p.Ala1476=) c.4113A>G (p.Ala1371=) c.2010A>G (p.Ala670=) c.4452A>G (p.Ala1484=) c.4443A>G (p.Ala1481=) c.4434A>G (p.Ala1478=) c.2772A>G (p.Ala924=) | |
X | g.108687603A>T | CA517924595 | COL4A5 | c.4437A>T (p.Ala1479=) c.4419A>T (p.Ala1473=) n.931A>T c.233A>T c.4428A>T (p.Ala1476=) c.4113A>T (p.Ala1371=) c.2010A>T (p.Ala670=) c.4452A>T (p.Ala1484=) c.4443A>T (p.Ala1481=) c.4434A>T (p.Ala1478=) c.2772A>T (p.Ala924=) | |
X | g.108687604C>A | CA413854380 | COL4A5 | c.4438C>A (p.Pro1480Thr) c.4420C>A (p.Pro1474Thr) n.932C>A c.234C>A c.4429C>A (p.Pro1477Thr) c.4114C>A (p.Pro1372Thr) c.2011C>A (p.Pro671Thr) c.4453C>A (p.Pro1485Thr) c.4444C>A (p.Pro1482Thr) c.4435C>A (p.Pro1479Thr) c.2773C>A (p.Pro925Thr) | |
X | g.108687604C= | CA2450719138 | COL4A5 | c.4438C= (p.Pro1480=) c.4420C= (p.Pro1474=) n.932C= c.234C= c.4429C= (p.Pro1477=) c.4114C= (p.Pro1372=) c.2011C= (p.Pro671=) c.4453C= (p.Pro1485=) c.4444C= (p.Pro1482=) c.4435C= (p.Pro1479=) c.2773C= (p.Pro925=) | |
X | g.108687604C>G | CA413854383 | COL4A5 | c.4438C>G (p.Pro1480Ala) c.4420C>G (p.Pro1474Ala) n.932C>G c.234C>G c.4429C>G (p.Pro1477Ala) c.4114C>G (p.Pro1372Ala) c.2011C>G (p.Pro671Ala) c.4453C>G (p.Pro1485Ala) c.4444C>G (p.Pro1482Ala) c.4435C>G (p.Pro1479Ala) c.2773C>G (p.Pro925Ala) | dbSNP |
X | g.108687604C>T | CA413854384 | COL4A5 | c.4438C>T (p.Pro1480Ser) c.4420C>T (p.Pro1474Ser) n.932C>T c.234C>T c.4429C>T (p.Pro1477Ser) c.4114C>T (p.Pro1372Ser) c.2011C>T (p.Pro671Ser) c.4453C>T (p.Pro1485Ser) c.4444C>T (p.Pro1482Ser) c.4435C>T (p.Pro1479Ser) c.2773C>T (p.Pro925Ser) | |
X | g.108687605del | CA2695235237 | COL4A5 | c.4439del (p.Pro1480HisfsTer?) c.4421del (p.Pro1474HisfsTer?) n.933del c.235del c.4430del (p.Pro1477HisfsTer?) c.4115del (p.Pro1372HisfsTer?) c.2012del (p.Pro671HisfsTer?) c.4454del (p.Pro1485HisfsTer?) c.4445del (p.Pro1482HisfsTer?) c.4436del (p.Pro1479HisfsTer?) c.2774del (p.Pro925HisfsTer?) | |
X | g.108687605C>A | CA413854387 | COL4A5 | c.4439C>A (p.Pro1480Gln) c.4421C>A (p.Pro1474Gln) n.933C>A c.235C>A c.4430C>A (p.Pro1477Gln) c.4115C>A (p.Pro1372Gln) c.2012C>A (p.Pro671Gln) c.4454C>A (p.Pro1485Gln) c.4445C>A (p.Pro1482Gln) c.4436C>A (p.Pro1479Gln) c.2774C>A (p.Pro925Gln) | gnomAD v4 |
X | g.108687605C= | CA2450719142 | COL4A5 | c.4439C= (p.Pro1480=) c.4421C= (p.Pro1474=) n.933C= c.235C= c.4430C= (p.Pro1477=) c.4115C= (p.Pro1372=) c.2012C= (p.Pro671=) c.4454C= (p.Pro1485=) c.4445C= (p.Pro1482=) c.4436C= (p.Pro1479=) c.2774C= (p.Pro925=) | |
X | g.108687605C>G | CA413854388 | COL4A5 | c.4439C>G (p.Pro1480Arg) c.4421C>G (p.Pro1474Arg) n.933C>G c.235C>G c.4430C>G (p.Pro1477Arg) c.4115C>G (p.Pro1372Arg) c.2012C>G (p.Pro671Arg) c.4454C>G (p.Pro1485Arg) c.4445C>G (p.Pro1482Arg) c.4436C>G (p.Pro1479Arg) c.2774C>G (p.Pro925Arg) | |
X | g.108687605C>T | CA413854389 | COL4A5 | c.4439C>T (p.Pro1480Leu) c.4421C>T (p.Pro1474Leu) n.933C>T c.235C>T c.4430C>T (p.Pro1477Leu) c.4115C>T (p.Pro1372Leu) c.2012C>T (p.Pro671Leu) c.4454C>T (p.Pro1485Leu) c.4445C>T (p.Pro1482Leu) c.4436C>T (p.Pro1479Leu) c.2774C>T (p.Pro925Leu) | dbSNP |
X | g.108687606A>C | CA517924601 | COL4A5 | c.4440A>C (p.Pro1480=) c.4422A>C (p.Pro1474=) n.934A>C c.236A>C c.4431A>C (p.Pro1477=) c.4116A>C (p.Pro1372=) c.2013A>C (p.Pro671=) c.4455A>C (p.Pro1485=) c.4446A>C (p.Pro1482=) c.4437A>C (p.Pro1479=) c.2775A>C (p.Pro925=) | |
X | g.108687606A>G | CA517924600 | COL4A5 | c.4440A>G (p.Pro1480=) c.4422A>G (p.Pro1474=) n.934A>G c.236A>G c.4431A>G (p.Pro1477=) c.4116A>G (p.Pro1372=) c.2013A>G (p.Pro671=) c.4455A>G (p.Pro1485=) c.4446A>G (p.Pro1482=) c.4437A>G (p.Pro1479=) c.2775A>G (p.Pro925=) | |
X | g.108687606A>T | CA517924599 | COL4A5 | c.4440A>T (p.Pro1480=) c.4422A>T (p.Pro1474=) n.934A>T c.236A>T c.4431A>T (p.Pro1477=) c.4116A>T (p.Pro1372=) c.2013A>T (p.Pro671=) c.4455A>T (p.Pro1485=) c.4446A>T (p.Pro1482=) c.4437A>T (p.Pro1479=) c.2775A>T (p.Pro925=) | |
X | g.108687607del | CA2499226311 | COL4A5 | c.4441del (p.Gln1481AsnfsTer?) c.4423del (p.Gln1475AsnfsTer?) n.935del c.237del c.4432del (p.Gln1478AsnfsTer?) c.4117del (p.Gln1373AsnfsTer?) c.2014del (p.Gln672AsnfsTer?) c.4456del (p.Gln1486AsnfsTer?) c.4447del (p.Gln1483AsnfsTer?) c.4438del (p.Gln1480AsnfsTer?) c.2776del (p.Gln926AsnfsTer?) | ClinVar dbSNP |
X | g.108687607C>A | CA413854393 | COL4A5 | c.4441C>A (p.Gln1481Lys) c.4423C>A (p.Gln1475Lys) n.935C>A c.237C>A c.4432C>A (p.Gln1478Lys) c.4117C>A (p.Gln1373Lys) c.2014C>A (p.Gln672Lys) c.4456C>A (p.Gln1486Lys) c.4447C>A (p.Gln1483Lys) c.4438C>A (p.Gln1480Lys) c.2776C>A (p.Gln926Lys) | |
X | g.108687607C= | CA2450719151 | COL4A5 | c.4441C= (p.Gln1481=) c.4423C= (p.Gln1475=) n.935C= c.237C= c.4432C= (p.Gln1478=) c.4117C= (p.Gln1373=) c.2014C= (p.Gln672=) c.4456C= (p.Gln1486=) c.4447C= (p.Gln1483=) c.4438C= (p.Gln1480=) c.2776C= (p.Gln926=) | |
X | g.108687607C>G | CA413854395 | COL4A5 | c.4441C>G (p.Gln1481Glu) c.4423C>G (p.Gln1475Glu) n.935C>G c.237C>G c.4432C>G (p.Gln1478Glu) c.4117C>G (p.Gln1373Glu) c.2014C>G (p.Gln672Glu) c.4456C>G (p.Gln1486Glu) c.4447C>G (p.Gln1483Glu) c.4438C>G (p.Gln1480Glu) c.2776C>G (p.Gln926Glu) | |
X | g.108687607C>T | CA413854399 | COL4A5 | c.4441C>T (p.Gln1481Ter) c.4423C>T (p.Gln1475Ter) n.935C>T c.237C>T c.4432C>T (p.Gln1478Ter) c.4117C>T (p.Gln1373Ter) c.2014C>T (p.Gln672Ter) c.4456C>T (p.Gln1486Ter) c.4447C>T (p.Gln1483Ter) c.4438C>T (p.Gln1480Ter) c.2776C>T (p.Gln926Ter) | ClinVar dbSNP |
X | g.108687608A>C | CA413854413 | COL4A5 | c.4442A>C (p.Gln1481Pro) c.4424A>C (p.Gln1475Pro) n.936A>C c.238A>C c.4433A>C (p.Gln1478Pro) c.4118A>C (p.Gln1373Pro) c.2015A>C (p.Gln672Pro) c.4457A>C (p.Gln1486Pro) c.4448A>C (p.Gln1483Pro) c.4439A>C (p.Gln1480Pro) c.2777A>C (p.Gln926Pro) | |
X | g.108687608A>G | CA413854401 | COL4A5 | c.4442A>G (p.Gln1481Arg) c.4424A>G (p.Gln1475Arg) n.936A>G c.238A>G c.4433A>G (p.Gln1478Arg) c.4118A>G (p.Gln1373Arg) c.2015A>G (p.Gln672Arg) c.4457A>G (p.Gln1486Arg) c.4448A>G (p.Gln1483Arg) c.4439A>G (p.Gln1480Arg) c.2777A>G (p.Gln926Arg) | |
X | g.108687608A>T | CA413854404 | COL4A5 | c.4442A>T (p.Gln1481Leu) c.4424A>T (p.Gln1475Leu) n.936A>T c.238A>T c.4433A>T (p.Gln1478Leu) c.4118A>T (p.Gln1373Leu) c.2015A>T (p.Gln672Leu) c.4457A>T (p.Gln1486Leu) c.4448A>T (p.Gln1483Leu) c.4439A>T (p.Gln1480Leu) c.2777A>T (p.Gln926Leu) | |
X | g.108687609A= | CA2450719158 | COL4A5 | c.4443A= (p.Gln1481=) c.4425A= (p.Gln1475=) n.937A= c.239A= c.4434A= (p.Gln1478=) c.4119A= (p.Gln1373=) c.2016A= (p.Gln672=) c.4458A= (p.Gln1486=) c.4449A= (p.Gln1483=) c.4440A= (p.Gln1480=) c.2778A= (p.Gln926=) | |
X | g.108687609A>C | CA413854417 | COL4A5 | c.4443A>C (p.Gln1481His) c.4425A>C (p.Gln1475His) n.937A>C c.239A>C c.4434A>C (p.Gln1478His) c.4119A>C (p.Gln1373His) c.2016A>C (p.Gln672His) c.4458A>C (p.Gln1486His) c.4449A>C (p.Gln1483His) c.4440A>C (p.Gln1480His) c.2778A>C (p.Gln926His) | |
X | g.108687609A>G | CA10489353 | COL4A5 | c.4443A>G (p.Gln1481=) c.4425A>G (p.Gln1475=) n.937A>G c.239A>G c.4434A>G (p.Gln1478=) c.4119A>G (p.Gln1373=) c.2016A>G (p.Gln672=) c.4458A>G (p.Gln1486=) c.4449A>G (p.Gln1483=) c.4440A>G (p.Gln1480=) c.2778A>G (p.Gln926=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108687609A>T | CA413854424 | COL4A5 | c.4443A>T (p.Gln1481His) c.4425A>T (p.Gln1475His) n.937A>T c.239A>T c.4434A>T (p.Gln1478His) c.4119A>T (p.Gln1373His) c.2016A>T (p.Gln672His) c.4458A>T (p.Gln1486His) c.4449A>T (p.Gln1483His) c.4440A>T (p.Gln1480His) c.2778A>T (p.Gln926His) | |
X | g.108687610T>A | CA413854428 | COL4A5 | c.4444T>A (p.Cys1482Ser) c.4426T>A (p.Cys1476Ser) n.938T>A c.240T>A c.4435T>A (p.Cys1479Ser) c.4120T>A (p.Cys1374Ser) c.2017T>A (p.Cys673Ser) c.4459T>A (p.Cys1487Ser) c.4450T>A (p.Cys1484Ser) c.4441T>A (p.Cys1481Ser) c.2779T>A (p.Cys927Ser) | |
X | g.108687610T>C | CA413854431 | COL4A5 | c.4444T>C (p.Cys1482Arg) c.4426T>C (p.Cys1476Arg) n.938T>C c.240T>C c.4435T>C (p.Cys1479Arg) c.4120T>C (p.Cys1374Arg) c.2017T>C (p.Cys673Arg) c.4459T>C (p.Cys1487Arg) c.4450T>C (p.Cys1484Arg) c.4441T>C (p.Cys1481Arg) c.2779T>C (p.Cys927Arg) | |
X | g.108687610T>G | CA413854434 | COL4A5 | c.4444T>G (p.Cys1482Gly) c.4426T>G (p.Cys1476Gly) n.938T>G c.240T>G c.4435T>G (p.Cys1479Gly) c.4120T>G (p.Cys1374Gly) c.2017T>G (p.Cys673Gly) c.4459T>G (p.Cys1487Gly) c.4450T>G (p.Cys1484Gly) c.4441T>G (p.Cys1481Gly) c.2779T>G (p.Cys927Gly) | |
X | g.108687611G>A | CA413854437 | COL4A5 | c.4445G>A (p.Cys1482Tyr) c.4427G>A (p.Cys1476Tyr) n.939G>A c.241G>A c.4436G>A (p.Cys1479Tyr) c.4121G>A (p.Cys1374Tyr) c.2018G>A (p.Cys673Tyr) c.4460G>A (p.Cys1487Tyr) c.4451G>A (p.Cys1484Tyr) c.4442G>A (p.Cys1481Tyr) c.2780G>A (p.Cys927Tyr) | ClinVar dbSNP COSMIC COSMIC |
X | g.108687611G>C | CA413854438 | COL4A5 | c.4445G>C (p.Cys1482Ser) c.4427G>C (p.Cys1476Ser) n.939G>C c.241G>C c.4436G>C (p.Cys1479Ser) c.4121G>C (p.Cys1374Ser) c.2018G>C (p.Cys673Ser) c.4460G>C (p.Cys1487Ser) c.4451G>C (p.Cys1484Ser) c.4442G>C (p.Cys1481Ser) c.2780G>C (p.Cys927Ser) | |
X | g.108687611G= | CA2450719163 | COL4A5 | c.4445G= (p.Cys1482=) c.4427G= (p.Cys1476=) n.939G= c.241G= c.4436G= (p.Cys1479=) c.4121G= (p.Cys1374=) c.2018G= (p.Cys673=) c.4460G= (p.Cys1487=) c.4451G= (p.Cys1484=) c.4442G= (p.Cys1481=) c.2780G= (p.Cys927=) | |
X | g.108687611G>T | CA413854439 | COL4A5 | c.4445G>T (p.Cys1482Phe) c.4427G>T (p.Cys1476Phe) n.939G>T c.241G>T c.4436G>T (p.Cys1479Phe) c.4121G>T (p.Cys1374Phe) c.2018G>T (p.Cys673Phe) c.4460G>T (p.Cys1487Phe) c.4451G>T (p.Cys1484Phe) c.4442G>T (p.Cys1481Phe) c.2780G>T (p.Cys927Phe) | |
X | g.108687612C>A | CA413854440 | COL4A5 | c.4446C>A (p.Cys1482Ter) c.4428C>A (p.Cys1476Ter) n.940C>A c.242C>A c.4437C>A (p.Cys1479Ter) c.4122C>A (p.Cys1374Ter) c.2019C>A (p.Cys673Ter) c.4461C>A (p.Cys1487Ter) c.4452C>A (p.Cys1484Ter) c.4443C>A (p.Cys1481Ter) c.2781C>A (p.Cys927Ter) | ClinVar |
X | g.108687612C>G | CA413854441 | COL4A5 | c.4446C>G (p.Cys1482Trp) c.4428C>G (p.Cys1476Trp) n.940C>G c.242C>G c.4437C>G (p.Cys1479Trp) c.4122C>G (p.Cys1374Trp) c.2019C>G (p.Cys673Trp) c.4461C>G (p.Cys1487Trp) c.4452C>G (p.Cys1484Trp) c.4443C>G (p.Cys1481Trp) c.2781C>G (p.Cys927Trp) | ClinVar dbSNP |
X | g.108687612C>T | CA517924607 | COL4A5 | c.4446C>T (p.Cys1482=) c.4428C>T (p.Cys1476=) n.940C>T c.242C>T c.4437C>T (p.Cys1479=) c.4122C>T (p.Cys1374=) c.2019C>T (p.Cys673=) c.4461C>T (p.Cys1487=) c.4452C>T (p.Cys1484=) c.4443C>T (p.Cys1481=) c.2781C>T (p.Cys927=) | gnomAD v4 |
X | g.108687613C>A | CA413854448 | COL4A5 | c.4447C>A (p.Pro1483Thr) c.4429C>A (p.Pro1477Thr) n.941C>A c.243C>A c.4438C>A (p.Pro1480Thr) c.4123C>A (p.Pro1375Thr) c.2020C>A (p.Pro674Thr) c.4462C>A (p.Pro1488Thr) c.4453C>A (p.Pro1485Thr) c.4444C>A (p.Pro1482Thr) c.2782C>A (p.Pro928Thr) | |
X | g.108687613C>G | CA413854445 | COL4A5 | c.4447C>G (p.Pro1483Ala) c.4429C>G (p.Pro1477Ala) n.941C>G c.243C>G c.4438C>G (p.Pro1480Ala) c.4123C>G (p.Pro1375Ala) c.2020C>G (p.Pro674Ala) c.4462C>G (p.Pro1488Ala) c.4453C>G (p.Pro1485Ala) c.4444C>G (p.Pro1482Ala) c.2782C>G (p.Pro928Ala) | |
X | g.108687613C>T | CA413854443 | COL4A5 | c.4447C>T (p.Pro1483Ser) c.4429C>T (p.Pro1477Ser) n.941C>T c.243C>T c.4438C>T (p.Pro1480Ser) c.4123C>T (p.Pro1375Ser) c.2020C>T (p.Pro674Ser) c.4462C>T (p.Pro1488Ser) c.4453C>T (p.Pro1485Ser) c.4444C>T (p.Pro1482Ser) c.2782C>T (p.Pro928Ser) | |
X | g.108687614C>A | CA413854451 | COL4A5 | c.4448C>A (p.Pro1483Gln) c.4430C>A (p.Pro1477Gln) n.942C>A c.244C>A c.4439C>A (p.Pro1480Gln) c.4124C>A (p.Pro1375Gln) c.2021C>A (p.Pro674Gln) c.4463C>A (p.Pro1488Gln) c.4454C>A (p.Pro1485Gln) c.4445C>A (p.Pro1482Gln) c.2783C>A (p.Pro928Gln) | |
X | g.108687614C>G | CA413854456 | COL4A5 | c.4448C>G (p.Pro1483Arg) c.4430C>G (p.Pro1477Arg) n.942C>G c.244C>G c.4439C>G (p.Pro1480Arg) c.4124C>G (p.Pro1375Arg) c.2021C>G (p.Pro674Arg) c.4463C>G (p.Pro1488Arg) c.4454C>G (p.Pro1485Arg) c.4445C>G (p.Pro1482Arg) c.2783C>G (p.Pro928Arg) | |
X | g.108687614C>T | CA413854453 | COL4A5 | c.4448C>T (p.Pro1483Leu) c.4430C>T (p.Pro1477Leu) n.942C>T c.244C>T c.4439C>T (p.Pro1480Leu) c.4124C>T (p.Pro1375Leu) c.2021C>T (p.Pro674Leu) c.4463C>T (p.Pro1488Leu) c.4454C>T (p.Pro1485Leu) c.4445C>T (p.Pro1482Leu) c.2783C>T (p.Pro928Leu) | |
X | g.108687614_108687615insCCAAACACACCCAAC | CA2822894484 | COL4A5 | c.4448_4449insCCAAACACACCCAAC (p.Pro1483_Gln1484insGlnThrHisProThr) c.4430_4431insCCAAACACACCCAAC (p.Pro1477_Gln1478insGlnThrHisProThr) n.942_943insCCAAACACACCCAAC c.244_245insCCAAACACACCCAAC c.4439_4440insCCAAACACACCCAAC (p.Pro1480_Gln1481insGlnThrHisProThr) c.4124_4125insCCAAACACACCCAAC (p.Pro1375_Gln1376insGlnThrHisProThr) c.2021_2022insCCAAACACACCCAAC (p.Pro674_Gln675insGlnThrHisProThr) c.4463_4464insCCAAACACACCCAAC (p.Pro1488_Gln1489insGlnThrHisProThr) c.4454_4455insCCAAACACACCCAAC (p.Pro1485_Gln1486insGlnThrHisProThr) c.4445_4446insCCAAACACACCCAAC (p.Pro1482_Gln1483insGlnThrHisProThr) c.2783_2784insCCAAACACACCCAAC (p.Pro928_Gln929insGlnThrHisProThr) | |
X | g.108687615A= | CA2450719167 | COL4A5 | c.4449A= (p.Pro1483=) c.4431A= (p.Pro1477=) n.943A= c.245A= c.4440A= (p.Pro1480=) c.4125A= (p.Pro1375=) c.2022A= (p.Pro674=) c.4464A= (p.Pro1488=) c.4455A= (p.Pro1485=) c.4446A= (p.Pro1482=) c.2784A= (p.Pro928=) | |
X | g.108687615A>C | CA517924608 | COL4A5 | c.4449A>C (p.Pro1483=) c.4431A>C (p.Pro1477=) n.943A>C c.245A>C c.4440A>C (p.Pro1480=) c.4125A>C (p.Pro1375=) c.2022A>C (p.Pro674=) c.4464A>C (p.Pro1488=) c.4455A>C (p.Pro1485=) c.4446A>C (p.Pro1482=) c.2784A>C (p.Pro928=) | ClinVar |
X | g.108687615A>G | CA517924609 | COL4A5 | c.4449A>G (p.Pro1483=) c.4431A>G (p.Pro1477=) n.943A>G c.245A>G c.4440A>G (p.Pro1480=) c.4125A>G (p.Pro1375=) c.2022A>G (p.Pro674=) c.4464A>G (p.Pro1488=) c.4455A>G (p.Pro1485=) c.4446A>G (p.Pro1482=) c.2784A>G (p.Pro928=) | ClinVar dbSNP gnomAD v4 |
X | g.108687615A>T | CA517924610 | COL4A5 | c.4449A>T (p.Pro1483=) c.4431A>T (p.Pro1477=) n.943A>T c.245A>T c.4440A>T (p.Pro1480=) c.4125A>T (p.Pro1375=) c.2022A>T (p.Pro674=) c.4464A>T (p.Pro1488=) c.4455A>T (p.Pro1485=) c.4446A>T (p.Pro1482=) c.2784A>T (p.Pro928=) | |
X | g.108687616C>A | CA413854459 | COL4A5 | c.4450C>A (p.Gln1484Lys) c.4432C>A (p.Gln1478Lys) n.944C>A c.246C>A c.4441C>A (p.Gln1481Lys) c.4126C>A (p.Gln1376Lys) c.2023C>A (p.Gln675Lys) c.4465C>A (p.Gln1489Lys) c.4456C>A (p.Gln1486Lys) c.4447C>A (p.Gln1483Lys) c.2785C>A (p.Gln929Lys) | |
X | g.108687616C>G | CA413854463 | COL4A5 | c.4450C>G (p.Gln1484Glu) c.4432C>G (p.Gln1478Glu) n.944C>G c.246C>G c.4441C>G (p.Gln1481Glu) c.4126C>G (p.Gln1376Glu) c.2023C>G (p.Gln675Glu) c.4465C>G (p.Gln1489Glu) c.4456C>G (p.Gln1486Glu) c.4447C>G (p.Gln1483Glu) c.2785C>G (p.Gln929Glu) | |
X | g.108687616C>T | CA413854462 | COL4A5 | c.4450C>T (p.Gln1484Ter) c.4432C>T (p.Gln1478Ter) n.944C>T c.246C>T c.4441C>T (p.Gln1481Ter) c.4126C>T (p.Gln1376Ter) c.2023C>T (p.Gln675Ter) c.4465C>T (p.Gln1489Ter) c.4456C>T (p.Gln1486Ter) c.4447C>T (p.Gln1483Ter) c.2785C>T (p.Gln929Ter) | |
X | g.108687617A= | CA2450719172 | COL4A5 | c.4451A= (p.Gln1484=) c.4433A= (p.Gln1478=) n.945A= c.247A= c.4442A= (p.Gln1481=) c.4127A= (p.Gln1376=) c.2024A= (p.Gln675=) c.4466A= (p.Gln1489=) c.4457A= (p.Gln1486=) c.4448A= (p.Gln1483=) c.2786A= (p.Gln929=) | |
X | g.108687617A>C | CA10489354 | COL4A5 | c.4451A>C (p.Gln1484Pro) c.4433A>C (p.Gln1478Pro) n.945A>C c.247A>C c.4442A>C (p.Gln1481Pro) c.4127A>C (p.Gln1376Pro) c.2024A>C (p.Gln675Pro) c.4466A>C (p.Gln1489Pro) c.4457A>C (p.Gln1486Pro) c.4448A>C (p.Gln1483Pro) c.2786A>C (p.Gln929Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108687617A>G | CA413854470 | COL4A5 | c.4451A>G (p.Gln1484Arg) c.4433A>G (p.Gln1478Arg) n.945A>G c.247A>G c.4442A>G (p.Gln1481Arg) c.4127A>G (p.Gln1376Arg) c.2024A>G (p.Gln675Arg) c.4466A>G (p.Gln1489Arg) c.4457A>G (p.Gln1486Arg) c.4448A>G (p.Gln1483Arg) c.2786A>G (p.Gln929Arg) | |
X | g.108687617A>T | CA413854467 | COL4A5 | c.4451A>T (p.Gln1484Leu) c.4433A>T (p.Gln1478Leu) n.945A>T c.247A>T c.4442A>T (p.Gln1481Leu) c.4127A>T (p.Gln1376Leu) c.2024A>T (p.Gln675Leu) c.4466A>T (p.Gln1489Leu) c.4457A>T (p.Gln1486Leu) c.4448A>T (p.Gln1483Leu) c.2786A>T (p.Gln929Leu) | |
X | g.108687618G>A | CA517924611 | COL4A5 | c.4452G>A (p.Gln1484=) c.4434G>A (p.Gln1478=) n.946G>A c.248G>A c.4443G>A (p.Gln1481=) c.4128G>A (p.Gln1376=) c.2025G>A (p.Gln675=) c.4467G>A (p.Gln1489=) c.4458G>A (p.Gln1486=) c.4449G>A (p.Gln1483=) c.2787G>A (p.Gln929=) | gnomAD v4 |
X | g.108687618G>C | CA413854473 | COL4A5 | c.4452G>C (p.Gln1484His) c.4434G>C (p.Gln1478His) n.946G>C c.248G>C c.4443G>C (p.Gln1481His) c.4128G>C (p.Gln1376His) c.2025G>C (p.Gln675His) c.4467G>C (p.Gln1489His) c.4458G>C (p.Gln1486His) c.4449G>C (p.Gln1483His) c.2787G>C (p.Gln929His) | |
X | g.108687618G>T | CA413854476 | COL4A5 | c.4452G>T (p.Gln1484His) c.4434G>T (p.Gln1478His) n.946G>T c.248G>T c.4443G>T (p.Gln1481His) c.4128G>T (p.Gln1376His) c.2025G>T (p.Gln675His) c.4467G>T (p.Gln1489His) c.4458G>T (p.Gln1486His) c.4449G>T (p.Gln1483His) c.2787G>T (p.Gln929His) | |
X | g.108687620dup | CA334059151 | COL4A5 | c.4454dup (p.Thr1486AsnfsTer6) c.4436dup (p.Thr1480AsnfsTer6) n.948dup c.250dup c.4445dup (p.Thr1483AsnfsTer6) c.4130dup (p.Thr1378AsnfsTer6) c.2027dup (p.Thr677AsnfsTer6) c.4469dup (p.Thr1491AsnfsTer6) c.4460dup (p.Thr1488AsnfsTer6) c.4451dup (p.Thr1485AsnfsTer6) c.2789dup (p.Thr931AsnfsTer6) | dbSNP |
X | g.108687620del | CA2580100174 | COL4A5 | c.4454del (p.Gly1485GlufsTer?) c.4436del (p.Gly1479GlufsTer?) n.948del c.250del c.4445del (p.Gly1482GlufsTer?) c.4130del (p.Gly1377GlufsTer?) c.2027del (p.Gly676GlufsTer?) c.4469del (p.Gly1490GlufsTer?) c.4460del (p.Gly1487GlufsTer?) c.4451del (p.Gly1484GlufsTer?) c.2789del (p.Gly930GlufsTer?) | ClinVar |
X | g.108687619G>A | CA413854479 | COL4A5 | c.4453G>A (p.Gly1485Arg) c.4435G>A (p.Gly1479Arg) n.947G>A c.249G>A c.4444G>A (p.Gly1482Arg) c.4129G>A (p.Gly1377Arg) c.2026G>A (p.Gly676Arg) c.4468G>A (p.Gly1490Arg) c.4459G>A (p.Gly1487Arg) c.4450G>A (p.Gly1484Arg) c.2788G>A (p.Gly930Arg) | gnomAD v4 |
X | g.108687619G>C | CA413854482 | COL4A5 | c.4453G>C (p.Gly1485Arg) c.4435G>C (p.Gly1479Arg) n.947G>C c.249G>C c.4444G>C (p.Gly1482Arg) c.4129G>C (p.Gly1377Arg) c.2026G>C (p.Gly676Arg) c.4468G>C (p.Gly1490Arg) c.4459G>C (p.Gly1487Arg) c.4450G>C (p.Gly1484Arg) c.2788G>C (p.Gly930Arg) | |
X | g.108687619G>T | CA413854485 | COL4A5 | c.4453G>T (p.Gly1485Ter) c.4435G>T (p.Gly1479Ter) n.947G>T c.249G>T c.4444G>T (p.Gly1482Ter) c.4129G>T (p.Gly1377Ter) c.2026G>T (p.Gly676Ter) c.4468G>T (p.Gly1490Ter) c.4459G>T (p.Gly1487Ter) c.4450G>T (p.Gly1484Ter) c.2788G>T (p.Gly930Ter) | |
X | g.108687619_108687621delinsGGA | CA2450719178 | COL4A5 | c.4453_4455delinsGGA (p.Gly1485=) c.4435_4437delinsGGA (p.Gly1479=) n.947_949delinsGGA c.249_251delinsGGA c.4444_4446delinsGGA (p.Gly1482=) c.4129_4131delinsGGA (p.Gly1377=) c.2026_2028delinsGGA (p.Gly676=) c.4468_4470delinsGGA (p.Gly1490=) c.4459_4461delinsGGA (p.Gly1487=) c.4450_4452delinsGGA (p.Gly1484=) c.2788_2790delinsGGA (p.Gly930=) | |
X | g.108687621_108687631del | CA2740092259 | COL4A5 | c.4455_4465del (p.Thr1486LeufsTer2) c.4437_4447del (p.Thr1480LeufsTer2) n.949_959del c.251_261del c.4446_4456del (p.Thr1483LeufsTer2) c.4131_4141del (p.Thr1378LeufsTer2) c.2028_2038del (p.Thr677LeufsTer2) c.4470_4480del (p.Thr1491LeufsTer2) c.4461_4471del (p.Thr1488LeufsTer2) c.4452_4462del (p.Thr1485LeufsTer2) c.2790_2800del (p.Thr931LeufsTer2) | ClinVar |
X | g.108687620G>A | CA413854488 | COL4A5 | c.4454G>A (p.Gly1485Glu) c.4436G>A (p.Gly1479Glu) n.948G>A c.250G>A c.4445G>A (p.Gly1482Glu) c.4130G>A (p.Gly1377Glu) c.2027G>A (p.Gly676Glu) c.4469G>A (p.Gly1490Glu) c.4460G>A (p.Gly1487Glu) c.4451G>A (p.Gly1484Glu) c.2789G>A (p.Gly930Glu) | ClinVar dbSNP COSMIC COSMIC |
X | g.108687620G>C | CA413854493 | COL4A5 | c.4454G>C (p.Gly1485Ala) c.4436G>C (p.Gly1479Ala) n.948G>C c.250G>C c.4445G>C (p.Gly1482Ala) c.4130G>C (p.Gly1377Ala) c.2027G>C (p.Gly676Ala) c.4469G>C (p.Gly1490Ala) c.4460G>C (p.Gly1487Ala) c.4451G>C (p.Gly1484Ala) c.2789G>C (p.Gly930Ala) | |
X | g.108687620G= | CA2450719186 | COL4A5 | c.4454G= (p.Gly1485=) c.4436G= (p.Gly1479=) n.948G= c.250G= c.4445G= (p.Gly1482=) c.4130G= (p.Gly1377=) c.2027G= (p.Gly676=) c.4469G= (p.Gly1490=) c.4460G= (p.Gly1487=) c.4451G= (p.Gly1484=) c.2789G= (p.Gly930=) | |
X | g.108687620G>T | CA413854496 | COL4A5 | c.4454G>T (p.Gly1485Val) c.4436G>T (p.Gly1479Val) n.948G>T c.250G>T c.4445G>T (p.Gly1482Val) c.4130G>T (p.Gly1377Val) c.2027G>T (p.Gly676Val) c.4469G>T (p.Gly1490Val) c.4460G>T (p.Gly1487Val) c.4451G>T (p.Gly1484Val) c.2789G>T (p.Gly930Val) | |
X | g.108687620_108687621del | CA259046 | COL4A5 | c.4454_4455del (p.Gly1485AspfsTer6) c.4436_4437del (p.Gly1479AspfsTer6) n.948_949del c.250_251del c.4445_4446del (p.Gly1482AspfsTer6) c.4130_4131del (p.Gly1377AspfsTer6) c.2027_2028del (p.Gly676AspfsTer6) c.4469_4470del (p.Gly1490AspfsTer6) c.4460_4461del (p.Gly1487AspfsTer6) c.4451_4452del (p.Gly1484AspfsTer6) c.2789_2790del (p.Gly930AspfsTer6) | dbSNP |
X | g.108687620_108687621delinsGA | CA2450719187 | COL4A5 | c.4454_4455delinsGA (p.Gly1485=) c.4436_4437delinsGA (p.Gly1479=) n.948_949delinsGA c.250_251delinsGA c.4445_4446delinsGA (p.Gly1482=) c.4130_4131delinsGA (p.Gly1377=) c.2027_2028delinsGA (p.Gly676=) c.4469_4470delinsGA (p.Gly1490=) c.4460_4461delinsGA (p.Gly1487=) c.4451_4452delinsGA (p.Gly1484=) c.2789_2790delinsGA (p.Gly930=) | |
X | g.108687621A>C | CA517924615 | COL4A5 | c.4455A>C (p.Gly1485=) c.4437A>C (p.Gly1479=) n.949A>C c.251A>C c.4446A>C (p.Gly1482=) c.4131A>C (p.Gly1377=) c.2028A>C (p.Gly676=) c.4470A>C (p.Gly1490=) c.4461A>C (p.Gly1487=) c.4452A>C (p.Gly1484=) c.2790A>C (p.Gly930=) | |
X | g.108687621A>G | CA517924616 | COL4A5 | c.4455A>G (p.Gly1485=) c.4437A>G (p.Gly1479=) n.949A>G c.251A>G c.4446A>G (p.Gly1482=) c.4131A>G (p.Gly1377=) c.2028A>G (p.Gly676=) c.4470A>G (p.Gly1490=) c.4461A>G (p.Gly1487=) c.4452A>G (p.Gly1484=) c.2790A>G (p.Gly930=) | |
X | g.108687621A>T | CA517924617 | COL4A5 | c.4455A>T (p.Gly1485=) c.4437A>T (p.Gly1479=) n.949A>T c.251A>T c.4446A>T (p.Gly1482=) c.4131A>T (p.Gly1377=) c.2028A>T (p.Gly676=) c.4470A>T (p.Gly1490=) c.4461A>T (p.Gly1487=) c.4452A>T (p.Gly1484=) c.2790A>T (p.Gly930=) | |
X | g.108687622del | CA259047 | COL4A5 | c.4456del (p.Thr1486HisfsTer?) c.4438del (p.Thr1480HisfsTer?) n.950del c.252del c.4447del (p.Thr1483HisfsTer?) c.4132del (p.Thr1378HisfsTer?) c.2029del (p.Thr677HisfsTer?) c.4471del (p.Thr1491HisfsTer?) c.4462del (p.Thr1488HisfsTer?) c.4453del (p.Thr1485HisfsTer?) c.2791del (p.Thr931HisfsTer?) | dbSNP |
X | g.108687622A= | CA2450719195 | COL4A5 | c.4456A= (p.Thr1486=) c.4438A= (p.Thr1480=) n.950A= c.252A= c.4447A= (p.Thr1483=) c.4132A= (p.Thr1378=) c.2029A= (p.Thr677=) c.4471A= (p.Thr1491=) c.4462A= (p.Thr1488=) c.4453A= (p.Thr1485=) c.2791A= (p.Thr931=) | |
X | g.108687622A>C | CA413854509 | COL4A5 | c.4456A>C (p.Thr1486Pro) c.4438A>C (p.Thr1480Pro) n.950A>C c.252A>C c.4447A>C (p.Thr1483Pro) c.4132A>C (p.Thr1378Pro) c.2029A>C (p.Thr677Pro) c.4471A>C (p.Thr1491Pro) c.4462A>C (p.Thr1488Pro) c.4453A>C (p.Thr1485Pro) c.2791A>C (p.Thr931Pro) | |
X | g.108687622A>G | CA413854503 | COL4A5 | c.4456A>G (p.Thr1486Ala) c.4438A>G (p.Thr1480Ala) n.950A>G c.252A>G c.4447A>G (p.Thr1483Ala) c.4132A>G (p.Thr1378Ala) c.2029A>G (p.Thr677Ala) c.4471A>G (p.Thr1491Ala) c.4462A>G (p.Thr1488Ala) c.4453A>G (p.Thr1485Ala) c.2791A>G (p.Thr931Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108687622A>T | CA413854506 | COL4A5 | c.4456A>T (p.Thr1486Ser) c.4438A>T (p.Thr1480Ser) n.950A>T c.252A>T c.4447A>T (p.Thr1483Ser) c.4132A>T (p.Thr1378Ser) c.2029A>T (p.Thr677Ser) c.4471A>T (p.Thr1491Ser) c.4462A>T (p.Thr1488Ser) c.4453A>T (p.Thr1485Ser) c.2791A>T (p.Thr931Ser) | |
X | g.108687623C>A | CA413854512 | COL4A5 | c.4457C>A (p.Thr1486Lys) c.4439C>A (p.Thr1480Lys) n.951C>A c.253C>A c.4448C>A (p.Thr1483Lys) c.4133C>A (p.Thr1378Lys) c.2030C>A (p.Thr677Lys) c.4472C>A (p.Thr1491Lys) c.4463C>A (p.Thr1488Lys) c.4454C>A (p.Thr1485Lys) c.2792C>A (p.Thr931Lys) | |
X | g.108687623C= | CA2450719197 | COL4A5 | c.4457C= (p.Thr1486=) c.4439C= (p.Thr1480=) n.951C= c.253C= c.4448C= (p.Thr1483=) c.4133C= (p.Thr1378=) c.2030C= (p.Thr677=) c.4472C= (p.Thr1491=) c.4463C= (p.Thr1488=) c.4454C= (p.Thr1485=) c.2792C= (p.Thr931=) | |
X | g.108687623C>G | CA261102 | COL4A5 | c.4457C>G (p.Thr1486Arg) c.4439C>G (p.Thr1480Arg) n.951C>G c.253C>G c.4448C>G (p.Thr1483Arg) c.4133C>G (p.Thr1378Arg) c.2030C>G (p.Thr677Arg) c.4472C>G (p.Thr1491Arg) c.4463C>G (p.Thr1488Arg) c.4454C>G (p.Thr1485Arg) c.2792C>G (p.Thr931Arg) | dbSNP |
X | g.108687623C>T | CA413854516 | COL4A5 | c.4457C>T (p.Thr1486Ile) c.4439C>T (p.Thr1480Ile) n.951C>T c.253C>T c.4448C>T (p.Thr1483Ile) c.4133C>T (p.Thr1378Ile) c.2030C>T (p.Thr677Ile) c.4472C>T (p.Thr1491Ile) c.4463C>T (p.Thr1488Ile) c.4454C>T (p.Thr1485Ile) c.2792C>T (p.Thr931Ile) | |
X | g.108687624A= | CA2450719199 | COL4A5 | c.4458A= (p.Thr1486=) c.4440A= (p.Thr1480=) n.952A= c.254A= c.4449A= (p.Thr1483=) c.4134A= (p.Thr1378=) c.2031A= (p.Thr677=) c.4473A= (p.Thr1491=) c.4464A= (p.Thr1488=) c.4455A= (p.Thr1485=) c.2793A= (p.Thr931=) | |
X | g.108687624A>C | CA517924620 | COL4A5 | c.4458A>C (p.Thr1486=) c.4440A>C (p.Thr1480=) n.952A>C c.254A>C c.4449A>C (p.Thr1483=) c.4134A>C (p.Thr1378=) c.2031A>C (p.Thr677=) c.4473A>C (p.Thr1491=) c.4464A>C (p.Thr1488=) c.4455A>C (p.Thr1485=) c.2793A>C (p.Thr931=) | |
X | g.108687624A>G | CA517924622 | COL4A5 | c.4458A>G (p.Thr1486=) c.4440A>G (p.Thr1480=) n.952A>G c.254A>G c.4449A>G (p.Thr1483=) c.4134A>G (p.Thr1378=) c.2031A>G (p.Thr677=) c.4473A>G (p.Thr1491=) c.4464A>G (p.Thr1488=) c.4455A>G (p.Thr1485=) c.2793A>G (p.Thr931=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108687624A>T | CA517924621 | COL4A5 | c.4458A>T (p.Thr1486=) c.4440A>T (p.Thr1480=) n.952A>T c.254A>T c.4449A>T (p.Thr1483=) c.4134A>T (p.Thr1378=) c.2031A>T (p.Thr677=) c.4473A>T (p.Thr1491=) c.4464A>T (p.Thr1488=) c.4455A>T (p.Thr1485=) c.2793A>T (p.Thr931=) | |
X | g.108687625C>A | CA413854521 | COL4A5 | c.4459C>A (p.Leu1487Ile) c.4441C>A (p.Leu1481Ile) n.953C>A c.255C>A c.4450C>A (p.Leu1484Ile) c.4135C>A (p.Leu1379Ile) c.2032C>A (p.Leu678Ile) c.4474C>A (p.Leu1492Ile) c.4465C>A (p.Leu1489Ile) c.4456C>A (p.Leu1486Ile) c.2794C>A (p.Leu932Ile) | |
X | g.108687625C>G | CA413854523 | COL4A5 | c.4459C>G (p.Leu1487Val) c.4441C>G (p.Leu1481Val) n.953C>G c.255C>G c.4450C>G (p.Leu1484Val) c.4135C>G (p.Leu1379Val) c.2032C>G (p.Leu678Val) c.4474C>G (p.Leu1492Val) c.4465C>G (p.Leu1489Val) c.4456C>G (p.Leu1486Val) c.2794C>G (p.Leu932Val) | |
X | g.108687625C>T | CA413854527 | COL4A5 | c.4459C>T (p.Leu1487Phe) c.4441C>T (p.Leu1481Phe) n.953C>T c.255C>T c.4450C>T (p.Leu1484Phe) c.4135C>T (p.Leu1379Phe) c.2032C>T (p.Leu678Phe) c.4474C>T (p.Leu1492Phe) c.4465C>T (p.Leu1489Phe) c.4456C>T (p.Leu1486Phe) c.2794C>T (p.Leu932Phe) | ClinVar |
X | g.108687626T>A | CA413854531 | COL4A5 | c.4460T>A (p.Leu1487His) c.4442T>A (p.Leu1481His) n.954T>A c.256T>A c.4451T>A (p.Leu1484His) c.4136T>A (p.Leu1379His) c.2033T>A (p.Leu678His) c.4475T>A (p.Leu1492His) c.4466T>A (p.Leu1489His) c.4457T>A (p.Leu1486His) c.2795T>A (p.Leu932His) | |
X | g.108687626T>C | CA413854534 | COL4A5 | c.4460T>C (p.Leu1487Pro) c.4442T>C (p.Leu1481Pro) n.954T>C c.256T>C c.4451T>C (p.Leu1484Pro) c.4136T>C (p.Leu1379Pro) c.2033T>C (p.Leu678Pro) c.4475T>C (p.Leu1492Pro) c.4466T>C (p.Leu1489Pro) c.4457T>C (p.Leu1486Pro) c.2795T>C (p.Leu932Pro) | gnomAD v4 |
X | g.108687626T>G | CA413854537 | COL4A5 | c.4460T>G (p.Leu1487Arg) c.4442T>G (p.Leu1481Arg) n.954T>G c.256T>G c.4451T>G (p.Leu1484Arg) c.4136T>G (p.Leu1379Arg) c.2033T>G (p.Leu678Arg) c.4475T>G (p.Leu1492Arg) c.4466T>G (p.Leu1489Arg) c.4457T>G (p.Leu1486Arg) c.2795T>G (p.Leu932Arg) | |
X | g.108687627T>A | CA517924625 | COL4A5 | c.4461T>A (p.Leu1487=) c.4443T>A (p.Leu1481=) n.955T>A c.257T>A c.4452T>A (p.Leu1484=) c.4137T>A (p.Leu1379=) c.2034T>A (p.Leu678=) c.4476T>A (p.Leu1492=) c.4467T>A (p.Leu1489=) c.4458T>A (p.Leu1486=) c.2796T>A (p.Leu932=) | |
X | g.108687627T>C | CA517924624 | COL4A5 | c.4461T>C (p.Leu1487=) c.4443T>C (p.Leu1481=) n.955T>C c.257T>C c.4452T>C (p.Leu1484=) c.4137T>C (p.Leu1379=) c.2034T>C (p.Leu678=) c.4476T>C (p.Leu1492=) c.4467T>C (p.Leu1489=) c.4458T>C (p.Leu1486=) c.2796T>C (p.Leu932=) | |
X | g.108687627T>G | CA10489355 | COL4A5 | c.4461T>G (p.Leu1487=) c.4443T>G (p.Leu1481=) n.955T>G c.257T>G c.4452T>G (p.Leu1484=) c.4137T>G (p.Leu1379=) c.2034T>G (p.Leu678=) c.4476T>G (p.Leu1492=) c.4467T>G (p.Leu1489=) c.4458T>G (p.Leu1486=) c.2796T>G (p.Leu932=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108687627T= | CA2450719202 | COL4A5 | c.4461T= (p.Leu1487=) c.4443T= (p.Leu1481=) n.955T= c.257T= c.4452T= (p.Leu1484=) c.4137T= (p.Leu1379=) c.2034T= (p.Leu678=) c.4476T= (p.Leu1492=) c.4467T= (p.Leu1489=) c.4458T= (p.Leu1486=) c.2796T= (p.Leu932=) | |
X | g.108687628C>A | CA413854546 | COL4A5 | c.4462C>A (p.Gln1488Lys) c.4444C>A (p.Gln1482Lys) n.956C>A c.258C>A c.4453C>A (p.Gln1485Lys) c.4138C>A (p.Gln1380Lys) c.2035C>A (p.Gln679Lys) c.4477C>A (p.Gln1493Lys) c.4468C>A (p.Gln1490Lys) c.4459C>A (p.Gln1487Lys) c.2797C>A (p.Gln933Lys) | |
X | g.108687628C>G | CA413854549 | COL4A5 | c.4462C>G (p.Gln1488Glu) c.4444C>G (p.Gln1482Glu) n.956C>G c.258C>G c.4453C>G (p.Gln1485Glu) c.4138C>G (p.Gln1380Glu) c.2035C>G (p.Gln679Glu) c.4477C>G (p.Gln1493Glu) c.4468C>G (p.Gln1490Glu) c.4459C>G (p.Gln1487Glu) c.2797C>G (p.Gln933Glu) | |
X | g.108687628C>T | CA413854542 | COL4A5 | c.4462C>T (p.Gln1488Ter) c.4444C>T (p.Gln1482Ter) n.956C>T c.258C>T c.4453C>T (p.Gln1485Ter) c.4138C>T (p.Gln1380Ter) c.2035C>T (p.Gln679Ter) c.4477C>T (p.Gln1493Ter) c.4468C>T (p.Gln1490Ter) c.4459C>T (p.Gln1487Ter) c.2797C>T (p.Gln933Ter) | ClinVar dbSNP |
X | g.108687629A>C | CA413854552 | COL4A5 | c.4463A>C (p.Gln1488Pro) c.4445A>C (p.Gln1482Pro) n.957A>C c.259A>C c.4454A>C (p.Gln1485Pro) c.4139A>C (p.Gln1380Pro) c.2036A>C (p.Gln679Pro) c.4478A>C (p.Gln1493Pro) c.4469A>C (p.Gln1490Pro) c.4460A>C (p.Gln1487Pro) c.2798A>C (p.Gln933Pro) | COSMIC |
X | g.108687629A>G | CA413854554 | COL4A5 | c.4463A>G (p.Gln1488Arg) c.4445A>G (p.Gln1482Arg) n.957A>G c.259A>G c.4454A>G (p.Gln1485Arg) c.4139A>G (p.Gln1380Arg) c.2036A>G (p.Gln679Arg) c.4478A>G (p.Gln1493Arg) c.4469A>G (p.Gln1490Arg) c.4460A>G (p.Gln1487Arg) c.2798A>G (p.Gln933Arg) | |
X | g.108687629A>T | CA413854555 | COL4A5 | c.4463A>T (p.Gln1488Leu) c.4445A>T (p.Gln1482Leu) n.957A>T c.259A>T c.4454A>T (p.Gln1485Leu) c.4139A>T (p.Gln1380Leu) c.2036A>T (p.Gln679Leu) c.4478A>T (p.Gln1493Leu) c.4469A>T (p.Gln1490Leu) c.4460A>T (p.Gln1487Leu) c.2798A>T (p.Gln933Leu) | |
X | g.108687630G>A | CA517924629 | COL4A5 | c.4464G>A (p.Gln1488=) c.4446G>A (p.Gln1482=) n.958G>A c.260G>A c.4455G>A (p.Gln1485=) c.4140G>A (p.Gln1380=) c.2037G>A (p.Gln679=) c.4479G>A (p.Gln1493=) c.4470G>A (p.Gln1490=) c.4461G>A (p.Gln1487=) c.2799G>A (p.Gln933=) | ClinVar COSMIC COSMIC |
X | g.108687630G>C | CA413854557 | COL4A5 | c.4464G>C (p.Gln1488His) c.4446G>C (p.Gln1482His) n.958G>C c.260G>C c.4455G>C (p.Gln1485His) c.4140G>C (p.Gln1380His) c.2037G>C (p.Gln679His) c.4479G>C (p.Gln1493His) c.4470G>C (p.Gln1490His) c.4461G>C (p.Gln1487His) c.2799G>C (p.Gln933His) | |
X | g.108687630G>T | CA413854559 | COL4A5 | c.4464G>T (p.Gln1488His) c.4446G>T (p.Gln1482His) n.958G>T c.260G>T c.4455G>T (p.Gln1485His) c.4140G>T (p.Gln1380His) c.2037G>T (p.Gln679His) c.4479G>T (p.Gln1493His) c.4470G>T (p.Gln1490His) c.4461G>T (p.Gln1487His) c.2799G>T (p.Gln933His) | |
X | g.108687631G>A | CA413854560 | COL4A5 | c.4465G>A (p.Val1489Ile) c.4447G>A (p.Val1483Ile) n.959G>A c.261G>A c.4456G>A (p.Val1486Ile) c.4141G>A (p.Val1381Ile) c.2038G>A (p.Val680Ile) c.4480G>A (p.Val1494Ile) c.4471G>A (p.Val1491Ile) c.4462G>A (p.Val1488Ile) c.2800G>A (p.Val934Ile) | gnomAD v4 |
X | g.108687631G>C | CA413854562 | COL4A5 | c.4465G>C (p.Val1489Leu) c.4447G>C (p.Val1483Leu) n.959G>C c.261G>C c.4456G>C (p.Val1486Leu) c.4141G>C (p.Val1381Leu) c.2038G>C (p.Val680Leu) c.4480G>C (p.Val1494Leu) c.4471G>C (p.Val1491Leu) c.4462G>C (p.Val1488Leu) c.2800G>C (p.Val934Leu) | |
X | g.108687631G= | CA2450719205 | COL4A5 | c.4465G= (p.Val1489=) c.4447G= (p.Val1483=) n.959G= c.261G= c.4456G= (p.Val1486=) c.4141G= (p.Val1381=) c.2038G= (p.Val680=) c.4480G= (p.Val1494=) c.4471G= (p.Val1491=) c.4462G= (p.Val1488=) c.2800G= (p.Val934=) | |
X | g.108687631G>T | CA10489356 | COL4A5 | c.4465G>T (p.Val1489Phe) c.4447G>T (p.Val1483Phe) n.959G>T c.261G>T c.4456G>T (p.Val1486Phe) c.4141G>T (p.Val1381Phe) c.2038G>T (p.Val680Phe) c.4480G>T (p.Val1494Phe) c.4471G>T (p.Val1491Phe) c.4462G>T (p.Val1488Phe) c.2800G>T (p.Val934Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108687632T>A | CA413854565 | COL4A5 | c.4466T>A (p.Val1489Asp) c.4448T>A (p.Val1483Asp) n.960T>A c.262T>A c.4457T>A (p.Val1486Asp) c.4142T>A (p.Val1381Asp) c.2039T>A (p.Val680Asp) c.4481T>A (p.Val1494Asp) c.4472T>A (p.Val1491Asp) c.4463T>A (p.Val1488Asp) c.2801T>A (p.Val934Asp) | |
X | g.108687632T>C | CA413854567 | COL4A5 | c.4466T>C (p.Val1489Ala) c.4448T>C (p.Val1483Ala) n.960T>C c.262T>C c.4457T>C (p.Val1486Ala) c.4142T>C (p.Val1381Ala) c.2039T>C (p.Val680Ala) c.4481T>C (p.Val1494Ala) c.4472T>C (p.Val1491Ala) c.4463T>C (p.Val1488Ala) c.2801T>C (p.Val934Ala) | |
X | g.108687632T>G | CA413854569 | COL4A5 | c.4466T>G (p.Val1489Gly) c.4448T>G (p.Val1483Gly) n.960T>G c.262T>G c.4457T>G (p.Val1486Gly) c.4142T>G (p.Val1381Gly) c.2039T>G (p.Val680Gly) c.4481T>G (p.Val1494Gly) c.4472T>G (p.Val1491Gly) c.4463T>G (p.Val1488Gly) c.2801T>G (p.Val934Gly) | |
X | g.108687633C>A | CA517924633 | COL4A5 | c.4467C>A (p.Val1489=) c.4449C>A (p.Val1483=) n.961C>A c.263C>A c.4458C>A (p.Val1486=) c.4143C>A (p.Val1381=) c.2040C>A (p.Val680=) c.4482C>A (p.Val1494=) c.4473C>A (p.Val1491=) c.4464C>A (p.Val1488=) c.2802C>A (p.Val934=) | |
X | g.108687633C>G | CA517924634 | COL4A5 | c.4467C>G (p.Val1489=) c.4449C>G (p.Val1483=) n.961C>G c.263C>G c.4458C>G (p.Val1486=) c.4143C>G (p.Val1381=) c.2040C>G (p.Val680=) c.4482C>G (p.Val1494=) c.4473C>G (p.Val1491=) c.4464C>G (p.Val1488=) c.2802C>G (p.Val934=) | |
X | g.108687633C>T | CA517924635 | COL4A5 | c.4467C>T (p.Val1489=) c.4449C>T (p.Val1483=) n.961C>T c.263C>T c.4458C>T (p.Val1486=) c.4143C>T (p.Val1381=) c.2040C>T (p.Val680=) c.4482C>T (p.Val1494=) c.4473C>T (p.Val1491=) c.4464C>T (p.Val1488=) c.2802C>T (p.Val934=) | |
X | g.108687634T>A | CA413854573 | COL4A5 | c.4468T>A (p.Tyr1490Asn) c.4450T>A (p.Tyr1484Asn) n.962T>A c.264T>A c.4459T>A (p.Tyr1487Asn) c.4144T>A (p.Tyr1382Asn) c.2041T>A (p.Tyr681Asn) c.4483T>A (p.Tyr1495Asn) c.4474T>A (p.Tyr1492Asn) c.4465T>A (p.Tyr1489Asn) c.2803T>A (p.Tyr935Asn) | |
X | g.108687634T>C | CA413854575 | COL4A5 | c.4468T>C (p.Tyr1490His) c.4450T>C (p.Tyr1484His) n.962T>C c.264T>C c.4459T>C (p.Tyr1487His) c.4144T>C (p.Tyr1382His) c.2041T>C (p.Tyr681His) c.4483T>C (p.Tyr1495His) c.4474T>C (p.Tyr1492His) c.4465T>C (p.Tyr1489His) c.2803T>C (p.Tyr935His) | ClinVar |
X | g.108687634T>G | CA413854571 | COL4A5 | c.4468T>G (p.Tyr1490Asp) c.4450T>G (p.Tyr1484Asp) n.962T>G c.264T>G c.4459T>G (p.Tyr1487Asp) c.4144T>G (p.Tyr1382Asp) c.2041T>G (p.Tyr681Asp) c.4483T>G (p.Tyr1495Asp) c.4474T>G (p.Tyr1492Asp) c.4465T>G (p.Tyr1489Asp) c.2803T>G (p.Tyr935Asp) | |
X | g.108687635A= | CA2450719208 | COL4A5 | c.4469A= (p.Tyr1490=) c.4451A= (p.Tyr1484=) n.963A= c.265A= c.4460A= (p.Tyr1487=) c.4145A= (p.Tyr1382=) c.2042A= (p.Tyr681=) c.4484A= (p.Tyr1495=) c.4475A= (p.Tyr1492=) c.4466A= (p.Tyr1489=) c.2804A= (p.Tyr935=) | |
X | g.108687635A>C | CA413854577 | COL4A5 | c.4469A>C (p.Tyr1490Ser) c.4451A>C (p.Tyr1484Ser) n.963A>C c.265A>C c.4460A>C (p.Tyr1487Ser) c.4145A>C (p.Tyr1382Ser) c.2042A>C (p.Tyr681Ser) c.4484A>C (p.Tyr1495Ser) c.4475A>C (p.Tyr1492Ser) c.4466A>C (p.Tyr1489Ser) c.2804A>C (p.Tyr935Ser) | dbSNP |
X | g.108687635A>G | CA10489357 | COL4A5 | c.4469A>G (p.Tyr1490Cys) c.4451A>G (p.Tyr1484Cys) n.963A>G c.265A>G c.4460A>G (p.Tyr1487Cys) c.4145A>G (p.Tyr1382Cys) c.2042A>G (p.Tyr681Cys) c.4484A>G (p.Tyr1495Cys) c.4475A>G (p.Tyr1492Cys) c.4466A>G (p.Tyr1489Cys) c.2804A>G (p.Tyr935Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108687635A>T | CA413854580 | COL4A5 | c.4469A>T (p.Tyr1490Phe) c.4451A>T (p.Tyr1484Phe) n.963A>T c.265A>T c.4460A>T (p.Tyr1487Phe) c.4145A>T (p.Tyr1382Phe) c.2042A>T (p.Tyr681Phe) c.4484A>T (p.Tyr1495Phe) c.4475A>T (p.Tyr1492Phe) c.4466A>T (p.Tyr1489Phe) c.2804A>T (p.Tyr935Phe) | ClinVar |
X | g.108687636T>A | CA413854582 | COL4A5 | c.4470T>A (p.Tyr1490Ter) c.4452T>A (p.Tyr1484Ter) n.964T>A c.266T>A c.4461T>A (p.Tyr1487Ter) c.4146T>A (p.Tyr1382Ter) c.2043T>A (p.Tyr681Ter) c.4485T>A (p.Tyr1495Ter) c.4476T>A (p.Tyr1492Ter) c.4467T>A (p.Tyr1489Ter) c.2805T>A (p.Tyr935Ter) | |
X | g.108687636T>C | CA517924637 | COL4A5 | c.4470T>C (p.Tyr1490=) c.4452T>C (p.Tyr1484=) n.964T>C c.266T>C c.4461T>C (p.Tyr1487=) c.4146T>C (p.Tyr1382=) c.2043T>C (p.Tyr681=) c.4485T>C (p.Tyr1495=) c.4476T>C (p.Tyr1492=) c.4467T>C (p.Tyr1489=) c.2805T>C (p.Tyr935=) | |
X | g.108687636T>G | CA413854584 | COL4A5 | c.4470T>G (p.Tyr1490Ter) c.4452T>G (p.Tyr1484Ter) n.964T>G c.266T>G c.4461T>G (p.Tyr1487Ter) c.4146T>G (p.Tyr1382Ter) c.2043T>G (p.Tyr681Ter) c.4485T>G (p.Tyr1495Ter) c.4476T>G (p.Tyr1492Ter) c.4467T>G (p.Tyr1489Ter) c.2805T>G (p.Tyr935Ter) | ClinVar dbSNP |
X | g.108687636T= | CA2450719210 | COL4A5 | c.4470T= (p.Tyr1490=) c.4452T= (p.Tyr1484=) n.964T= c.266T= c.4461T= (p.Tyr1487=) c.4146T= (p.Tyr1382=) c.2043T= (p.Tyr681=) c.4485T= (p.Tyr1495=) c.4476T= (p.Tyr1492=) c.4467T= (p.Tyr1489=) c.2805T= (p.Tyr935=) | |
X | g.108687637G>A | CA413854590 | COL4A5 | c.4471G>A (p.Glu1491Lys) c.4453G>A (p.Glu1485Lys) n.965G>A c.267G>A c.4462G>A (p.Glu1488Lys) c.4147G>A (p.Glu1383Lys) c.2044G>A (p.Glu682Lys) c.4486G>A (p.Glu1496Lys) c.4477G>A (p.Glu1493Lys) c.4468G>A (p.Glu1490Lys) c.2806G>A (p.Glu936Lys) | |
X | g.108687637G>C | CA413854586 | COL4A5 | c.4471G>C (p.Glu1491Gln) c.4453G>C (p.Glu1485Gln) n.965G>C c.267G>C c.4462G>C (p.Glu1488Gln) c.4147G>C (p.Glu1383Gln) c.2044G>C (p.Glu682Gln) c.4486G>C (p.Glu1496Gln) c.4477G>C (p.Glu1493Gln) c.4468G>C (p.Glu1490Gln) c.2806G>C (p.Glu936Gln) | |
X | g.108687637G>T | CA413854588 | COL4A5 | c.4471G>T (p.Glu1491Ter) c.4453G>T (p.Glu1485Ter) n.965G>T c.267G>T c.4462G>T (p.Glu1488Ter) c.4147G>T (p.Glu1383Ter) c.2044G>T (p.Glu682Ter) c.4486G>T (p.Glu1496Ter) c.4477G>T (p.Glu1493Ter) c.4468G>T (p.Glu1490Ter) c.2806G>T (p.Glu936Ter) | |
X | g.108687638A>C | CA413854592 | COL4A5 | c.4472A>C (p.Glu1491Ala) c.4454A>C (p.Glu1485Ala) n.966A>C c.268A>C c.4463A>C (p.Glu1488Ala) c.4148A>C (p.Glu1383Ala) c.2045A>C (p.Glu682Ala) c.4487A>C (p.Glu1496Ala) c.4478A>C (p.Glu1493Ala) c.4469A>C (p.Glu1490Ala) c.2807A>C (p.Glu936Ala) | |
X | g.108687638A>G | CA413854594 | COL4A5 | c.4472A>G (p.Glu1491Gly) c.4454A>G (p.Glu1485Gly) n.966A>G c.268A>G c.4463A>G (p.Glu1488Gly) c.4148A>G (p.Glu1383Gly) c.2045A>G (p.Glu682Gly) c.4487A>G (p.Glu1496Gly) c.4478A>G (p.Glu1493Gly) c.4469A>G (p.Glu1490Gly) c.2807A>G (p.Glu936Gly) | gnomAD v4 |
X | g.108687638A>T | CA413854597 | COL4A5 | c.4472A>T (p.Glu1491Val) c.4454A>T (p.Glu1485Val) n.966A>T c.268A>T c.4463A>T (p.Glu1488Val) c.4148A>T (p.Glu1383Val) c.2045A>T (p.Glu682Val) c.4487A>T (p.Glu1496Val) c.4478A>T (p.Glu1493Val) c.4469A>T (p.Glu1490Val) c.2807A>T (p.Glu936Val) | |
X | g.108687639A= | CA2450719212 | COL4A5 | c.4473A= (p.Glu1491=) c.4455A= (p.Glu1485=) n.967A= c.269A= c.4464A= (p.Glu1488=) c.4149A= (p.Glu1383=) c.2046A= (p.Glu682=) c.4488A= (p.Glu1496=) c.4479A= (p.Glu1493=) c.4470A= (p.Glu1490=) c.2808A= (p.Glu936=) | |
X | g.108687639A>C | CA413854598 | COL4A5 | c.4473A>C (p.Glu1491Asp) c.4455A>C (p.Glu1485Asp) n.967A>C c.269A>C c.4464A>C (p.Glu1488Asp) c.4149A>C (p.Glu1383Asp) c.2046A>C (p.Glu682Asp) c.4488A>C (p.Glu1496Asp) c.4479A>C (p.Glu1493Asp) c.4470A>C (p.Glu1490Asp) c.2808A>C (p.Glu936Asp) | |
X | g.108687639A>G | CA517924638 | COL4A5 | c.4473A>G (p.Glu1491=) c.4455A>G (p.Glu1485=) n.967A>G c.269A>G c.4464A>G (p.Glu1488=) c.4149A>G (p.Glu1383=) c.2046A>G (p.Glu682=) c.4488A>G (p.Glu1496=) c.4479A>G (p.Glu1493=) c.4470A>G (p.Glu1490=) c.2808A>G (p.Glu936=) | ClinVar |
X | g.108687639A>T | CA413854600 | COL4A5 | c.4473A>T (p.Glu1491Asp) c.4455A>T (p.Glu1485Asp) n.967A>T c.269A>T c.4464A>T (p.Glu1488Asp) c.4149A>T (p.Glu1383Asp) c.2046A>T (p.Glu682Asp) c.4488A>T (p.Glu1496Asp) c.4479A>T (p.Glu1493Asp) c.4470A>T (p.Glu1490Asp) c.2808A>T (p.Glu936Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108687640G>A | CA413854605 | COL4A5 | c.4474G>A (p.Gly1492Ser) c.4456G>A (p.Gly1486Ser) n.968G>A c.270G>A c.4465G>A (p.Gly1489Ser) c.4150G>A (p.Gly1384Ser) c.2047G>A (p.Gly683Ser) c.4489G>A (p.Gly1497Ser) c.4480G>A (p.Gly1494Ser) c.4471G>A (p.Gly1491Ser) c.2809G>A (p.Gly937Ser) | ClinVar dbSNP |
X | g.108687640G>C | CA413854604 | COL4A5 | c.4474G>C (p.Gly1492Arg) c.4456G>C (p.Gly1486Arg) n.968G>C c.270G>C c.4465G>C (p.Gly1489Arg) c.4150G>C (p.Gly1384Arg) c.2047G>C (p.Gly683Arg) c.4489G>C (p.Gly1497Arg) c.4480G>C (p.Gly1494Arg) c.4471G>C (p.Gly1491Arg) c.2809G>C (p.Gly937Arg) | |
X | g.108687640G>T | CA413854602 | COL4A5 | c.4474G>T (p.Gly1492Cys) c.4456G>T (p.Gly1486Cys) n.968G>T c.270G>T c.4465G>T (p.Gly1489Cys) c.4150G>T (p.Gly1384Cys) c.2047G>T (p.Gly683Cys) c.4489G>T (p.Gly1497Cys) c.4480G>T (p.Gly1494Cys) c.4471G>T (p.Gly1491Cys) c.2809G>T (p.Gly937Cys) | |
X | g.108687641G>A | CA413854607 | COL4A5 | c.4475G>A (p.Gly1492Asp) c.4457G>A (p.Gly1486Asp) n.969G>A c.271G>A c.4466G>A (p.Gly1489Asp) c.4151G>A (p.Gly1384Asp) c.2048G>A (p.Gly683Asp) c.4490G>A (p.Gly1497Asp) c.4481G>A (p.Gly1494Asp) c.4472G>A (p.Gly1491Asp) c.2810G>A (p.Gly937Asp) | |
X | g.108687641G>C | CA259048 | COL4A5 | c.4475G>C (p.Gly1492Ala) c.4457G>C (p.Gly1486Ala) n.969G>C c.271G>C c.4466G>C (p.Gly1489Ala) c.4151G>C (p.Gly1384Ala) c.2048G>C (p.Gly683Ala) c.4490G>C (p.Gly1497Ala) c.4481G>C (p.Gly1494Ala) c.4472G>C (p.Gly1491Ala) c.2810G>C (p.Gly937Ala) | ClinVar dbSNP |
X | g.108687641G= | CA2450719219 | COL4A5 | c.4475G= (p.Gly1492=) c.4457G= (p.Gly1486=) n.969G= c.271G= c.4466G= (p.Gly1489=) c.4151G= (p.Gly1384=) c.2048G= (p.Gly683=) c.4490G= (p.Gly1497=) c.4481G= (p.Gly1494=) c.4472G= (p.Gly1491=) c.2810G= (p.Gly937=) | |
X | g.108687641G>T | CA413854609 | COL4A5 | c.4475G>T (p.Gly1492Val) c.4457G>T (p.Gly1486Val) n.969G>T c.271G>T c.4466G>T (p.Gly1489Val) c.4151G>T (p.Gly1384Val) c.2048G>T (p.Gly683Val) c.4490G>T (p.Gly1497Val) c.4481G>T (p.Gly1494Val) c.4472G>T (p.Gly1491Val) c.2810G>T (p.Gly937Val) | ClinVar dbSNP gnomAD v4 |
X | g.108687642C>A | CA517924641 | COL4A5 | c.4476C>A (p.Gly1492=) c.4458C>A (p.Gly1486=) n.970C>A c.272C>A c.4467C>A (p.Gly1489=) c.4152C>A (p.Gly1384=) c.2049C>A (p.Gly683=) c.4491C>A (p.Gly1497=) c.4482C>A (p.Gly1494=) c.4473C>A (p.Gly1491=) c.2811C>A (p.Gly937=) | |
X | g.108687642C= | CA2450719221 | COL4A5 | c.4476C= (p.Gly1492=) c.4458C= (p.Gly1486=) n.970C= c.272C= c.4467C= (p.Gly1489=) c.4152C= (p.Gly1384=) c.2049C= (p.Gly683=) c.4491C= (p.Gly1497=) c.4482C= (p.Gly1494=) c.4473C= (p.Gly1491=) c.2811C= (p.Gly937=) | |
X | g.108687642C>G | CA517924643 | COL4A5 | c.4476C>G (p.Gly1492=) c.4458C>G (p.Gly1486=) n.970C>G c.272C>G c.4467C>G (p.Gly1489=) c.4152C>G (p.Gly1384=) c.2049C>G (p.Gly683=) c.4491C>G (p.Gly1497=) c.4482C>G (p.Gly1494=) c.4473C>G (p.Gly1491=) c.2811C>G (p.Gly937=) | |
X | g.108687642C>T | CA10489358 | COL4A5 | c.4476C>T (p.Gly1492=) c.4458C>T (p.Gly1486=) n.970C>T c.272C>T c.4467C>T (p.Gly1489=) c.4152C>T (p.Gly1384=) c.2049C>T (p.Gly683=) c.4491C>T (p.Gly1497=) c.4482C>T (p.Gly1494=) c.4473C>T (p.Gly1491=) c.2811C>T (p.Gly937=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108687643T>A | CA413854613 | COL4A5 | c.4477T>A (p.Phe1493Ile) c.4459T>A (p.Phe1487Ile) n.971T>A c.273T>A c.4468T>A (p.Phe1490Ile) c.4153T>A (p.Phe1385Ile) c.2050T>A (p.Phe684Ile) c.4492T>A (p.Phe1498Ile) c.4483T>A (p.Phe1495Ile) c.4474T>A (p.Phe1492Ile) c.2812T>A (p.Phe938Ile) | |
X | g.108687643T>C | CA413854614 | COL4A5 | c.4477T>C (p.Phe1493Leu) c.4459T>C (p.Phe1487Leu) n.971T>C c.273T>C c.4468T>C (p.Phe1490Leu) c.4153T>C (p.Phe1385Leu) c.2050T>C (p.Phe684Leu) c.4492T>C (p.Phe1498Leu) c.4483T>C (p.Phe1495Leu) c.4474T>C (p.Phe1492Leu) c.2812T>C (p.Phe938Leu) | |
X | g.108687643T>G | CA413854616 | COL4A5 | c.4477T>G (p.Phe1493Val) c.4459T>G (p.Phe1487Val) n.971T>G c.273T>G c.4468T>G (p.Phe1490Val) c.4153T>G (p.Phe1385Val) c.2050T>G (p.Phe684Val) c.4492T>G (p.Phe1498Val) c.4483T>G (p.Phe1495Val) c.4474T>G (p.Phe1492Val) c.2812T>G (p.Phe938Val) | |
X | g.108687646del | CA2695235238 | COL4A5 | c.4480del (p.Ser1494LeufsTer?) c.4462del (p.Ser1488LeufsTer?) n.974del c.276del c.4471del (p.Ser1491LeufsTer?) c.4156del (p.Ser1386LeufsTer?) c.2053del (p.Ser685LeufsTer?) c.4495del (p.Ser1499LeufsTer?) c.4486del (p.Ser1496LeufsTer?) c.4477del (p.Ser1493LeufsTer?) c.2815del (p.Ser939LeufsTer?) | |
X | g.108687644T>A | CA413854622 | COL4A5 | c.4478T>A (p.Phe1493Tyr) c.4460T>A (p.Phe1487Tyr) n.972T>A c.274T>A c.4469T>A (p.Phe1490Tyr) c.4154T>A (p.Phe1385Tyr) c.2051T>A (p.Phe684Tyr) c.4493T>A (p.Phe1498Tyr) c.4484T>A (p.Phe1495Tyr) c.4475T>A (p.Phe1492Tyr) c.2813T>A (p.Phe938Tyr) | |
X | g.108687644T>C | CA413854619 | COL4A5 | c.4478T>C (p.Phe1493Ser) c.4460T>C (p.Phe1487Ser) n.972T>C c.274T>C c.4469T>C (p.Phe1490Ser) c.4154T>C (p.Phe1385Ser) c.2051T>C (p.Phe684Ser) c.4493T>C (p.Phe1498Ser) c.4484T>C (p.Phe1495Ser) c.4475T>C (p.Phe1492Ser) c.2813T>C (p.Phe938Ser) | |
X | g.108687644T>G | CA413854621 | COL4A5 | c.4478T>G (p.Phe1493Cys) c.4460T>G (p.Phe1487Cys) n.972T>G c.274T>G c.4469T>G (p.Phe1490Cys) c.4154T>G (p.Phe1385Cys) c.2051T>G (p.Phe684Cys) c.4493T>G (p.Phe1498Cys) c.4484T>G (p.Phe1495Cys) c.4475T>G (p.Phe1492Cys) c.2813T>G (p.Phe938Cys) | |
X | g.108687645T>A | CA413854624 | COL4A5 | c.4479T>A (p.Phe1493Leu) c.4461T>A (p.Phe1487Leu) n.973T>A c.275T>A c.4470T>A (p.Phe1490Leu) c.4155T>A (p.Phe1385Leu) c.2052T>A (p.Phe684Leu) c.4494T>A (p.Phe1498Leu) c.4485T>A (p.Phe1495Leu) c.4476T>A (p.Phe1492Leu) c.2814T>A (p.Phe938Leu) | |
X | g.108687645T>C | CA517924645 | COL4A5 | c.4479T>C (p.Phe1493=) c.4461T>C (p.Phe1487=) n.973T>C c.275T>C c.4470T>C (p.Phe1490=) c.4155T>C (p.Phe1385=) c.2052T>C (p.Phe684=) c.4494T>C (p.Phe1498=) c.4485T>C (p.Phe1495=) c.4476T>C (p.Phe1492=) c.2814T>C (p.Phe938=) | dbSNP |
X | g.108687645T>G | CA413854627 | COL4A5 | c.4479T>G (p.Phe1493Leu) c.4461T>G (p.Phe1487Leu) n.973T>G c.275T>G c.4470T>G (p.Phe1490Leu) c.4155T>G (p.Phe1385Leu) c.2052T>G (p.Phe684Leu) c.4494T>G (p.Phe1498Leu) c.4485T>G (p.Phe1495Leu) c.4476T>G (p.Phe1492Leu) c.2814T>G (p.Phe938Leu) | |
X | g.108687645T= | CA2450719223 | COL4A5 | c.4479T= (p.Phe1493=) c.4461T= (p.Phe1487=) n.973T= c.275T= c.4470T= (p.Phe1490=) c.4155T= (p.Phe1385=) c.2052T= (p.Phe684=) c.4494T= (p.Phe1498=) c.4485T= (p.Phe1495=) c.4476T= (p.Phe1492=) c.2814T= (p.Phe938=) | |
X | g.108687646T>A | CA413854629 | COL4A5 | c.4480T>A (p.Ser1494Thr) c.4462T>A (p.Ser1488Thr) n.974T>A c.276T>A c.4471T>A (p.Ser1491Thr) c.4156T>A (p.Ser1386Thr) c.2053T>A (p.Ser685Thr) c.4495T>A (p.Ser1499Thr) c.4486T>A (p.Ser1496Thr) c.4477T>A (p.Ser1493Thr) c.2815T>A (p.Ser939Thr) | |
X | g.108687646T>C | CA413854631 | COL4A5 | c.4480T>C (p.Ser1494Pro) c.4462T>C (p.Ser1488Pro) n.974T>C c.276T>C c.4471T>C (p.Ser1491Pro) c.4156T>C (p.Ser1386Pro) c.2053T>C (p.Ser685Pro) c.4495T>C (p.Ser1499Pro) c.4486T>C (p.Ser1496Pro) c.4477T>C (p.Ser1493Pro) c.2815T>C (p.Ser939Pro) | |
X | g.108687646T>G | CA413854633 | COL4A5 | c.4480T>G (p.Ser1494Ala) c.4462T>G (p.Ser1488Ala) n.974T>G c.276T>G c.4471T>G (p.Ser1491Ala) c.4156T>G (p.Ser1386Ala) c.2053T>G (p.Ser685Ala) c.4495T>G (p.Ser1499Ala) c.4486T>G (p.Ser1496Ala) c.4477T>G (p.Ser1493Ala) c.2815T>G (p.Ser939Ala) | |
X | g.108687647C>A | CA413854635 | COL4A5 | c.4481C>A (p.Ser1494Tyr) c.4463C>A (p.Ser1488Tyr) n.975C>A c.277C>A c.4472C>A (p.Ser1491Tyr) c.4157C>A (p.Ser1386Tyr) c.2054C>A (p.Ser685Tyr) c.4496C>A (p.Ser1499Tyr) c.4487C>A (p.Ser1496Tyr) c.4478C>A (p.Ser1493Tyr) c.2816C>A (p.Ser939Tyr) | |
X | g.108687647C= | CA2450719226 | COL4A5 | c.4481C= (p.Ser1494=) c.4463C= (p.Ser1488=) n.975C= c.277C= c.4472C= (p.Ser1491=) c.4157C= (p.Ser1386=) c.2054C= (p.Ser685=) c.4496C= (p.Ser1499=) c.4487C= (p.Ser1496=) c.4478C= (p.Ser1493=) c.2816C= (p.Ser939=) | |
X | g.108687647C>G | CA413854637 | COL4A5 | c.4481C>G (p.Ser1494Cys) c.4463C>G (p.Ser1488Cys) n.975C>G c.277C>G c.4472C>G (p.Ser1491Cys) c.4157C>G (p.Ser1386Cys) c.2054C>G (p.Ser685Cys) c.4496C>G (p.Ser1499Cys) c.4487C>G (p.Ser1496Cys) c.4478C>G (p.Ser1493Cys) c.2816C>G (p.Ser939Cys) | |
X | g.108687647C>T | CA259050 | COL4A5 | c.4481C>T (p.Ser1494Phe) c.4463C>T (p.Ser1488Phe) n.975C>T c.277C>T c.4472C>T (p.Ser1491Phe) c.4157C>T (p.Ser1386Phe) c.2054C>T (p.Ser685Phe) c.4496C>T (p.Ser1499Phe) c.4487C>T (p.Ser1496Phe) c.4478C>T (p.Ser1493Phe) c.2816C>T (p.Ser939Phe) | dbSNP |
X | g.108687648T>A | CA517924647 | COL4A5 | c.4482T>A (p.Ser1494=) c.4464T>A (p.Ser1488=) n.976T>A c.278T>A c.4473T>A (p.Ser1491=) c.4158T>A (p.Ser1386=) c.2055T>A (p.Ser685=) c.4497T>A (p.Ser1499=) c.4488T>A (p.Ser1496=) c.4479T>A (p.Ser1493=) c.2817T>A (p.Ser939=) | COSMIC COSMIC |
X | g.108687648T>C | CA517924648 | COL4A5 | c.4482T>C (p.Ser1494=) c.4464T>C (p.Ser1488=) n.976T>C c.278T>C c.4473T>C (p.Ser1491=) c.4158T>C (p.Ser1386=) c.2055T>C (p.Ser685=) c.4497T>C (p.Ser1499=) c.4488T>C (p.Ser1496=) c.4479T>C (p.Ser1493=) c.2817T>C (p.Ser939=) | |
X | g.108687648T>G | CA517924649 | COL4A5 | c.4482T>G (p.Ser1494=) c.4464T>G (p.Ser1488=) n.976T>G c.278T>G c.4473T>G (p.Ser1491=) c.4158T>G (p.Ser1386=) c.2055T>G (p.Ser685=) c.4497T>G (p.Ser1499=) c.4488T>G (p.Ser1496=) c.4479T>G (p.Ser1493=) c.2817T>G (p.Ser939=) | |
X | g.108687649C>A | CA413854639 | COL4A5 | c.4483C>A (p.Leu1495Ile) c.4465C>A (p.Leu1489Ile) n.977C>A c.279C>A c.4474C>A (p.Leu1492Ile) c.4159C>A (p.Leu1387Ile) c.2056C>A (p.Leu686Ile) c.4498C>A (p.Leu1500Ile) c.4489C>A (p.Leu1497Ile) c.4480C>A (p.Leu1494Ile) c.2818C>A (p.Leu940Ile) | |
X | g.108687649C= | CA2450719229 | COL4A5 | c.4483C= (p.Leu1495=) c.4465C= (p.Leu1489=) n.977C= c.279C= c.4474C= (p.Leu1492=) c.4159C= (p.Leu1387=) c.2056C= (p.Leu686=) c.4498C= (p.Leu1500=) c.4489C= (p.Leu1497=) c.4480C= (p.Leu1494=) c.2818C= (p.Leu940=) | |
X | g.108687649C>G | CA413854641 | COL4A5 | c.4483C>G (p.Leu1495Val) c.4465C>G (p.Leu1489Val) n.977C>G c.279C>G c.4474C>G (p.Leu1492Val) c.4159C>G (p.Leu1387Val) c.2056C>G (p.Leu686Val) c.4498C>G (p.Leu1500Val) c.4489C>G (p.Leu1497Val) c.4480C>G (p.Leu1494Val) c.2818C>G (p.Leu940Val) | |
X | g.108687649C>T | CA413854643 | COL4A5 | c.4483C>T (p.Leu1495Phe) c.4465C>T (p.Leu1489Phe) n.977C>T c.279C>T c.4474C>T (p.Leu1492Phe) c.4159C>T (p.Leu1387Phe) c.2056C>T (p.Leu686Phe) c.4498C>T (p.Leu1500Phe) c.4489C>T (p.Leu1497Phe) c.4480C>T (p.Leu1494Phe) c.2818C>T (p.Leu940Phe) | dbSNP |
X | g.108687650T>A | CA413854645 | COL4A5 | c.4484T>A (p.Leu1495His) c.4466T>A (p.Leu1489His) n.978T>A c.280T>A c.4475T>A (p.Leu1492His) c.4160T>A (p.Leu1387His) c.2057T>A (p.Leu686His) c.4499T>A (p.Leu1500His) c.4490T>A (p.Leu1497His) c.4481T>A (p.Leu1494His) c.2819T>A (p.Leu940His) | |
X | g.108687650T>C | CA413854647 | COL4A5 | c.4484T>C (p.Leu1495Pro) c.4466T>C (p.Leu1489Pro) n.978T>C c.280T>C c.4475T>C (p.Leu1492Pro) c.4160T>C (p.Leu1387Pro) c.2057T>C (p.Leu686Pro) c.4499T>C (p.Leu1500Pro) c.4490T>C (p.Leu1497Pro) c.4481T>C (p.Leu1494Pro) c.2819T>C (p.Leu940Pro) | |
X | g.108687650T>G | CA413854649 | COL4A5 | c.4484T>G (p.Leu1495Arg) c.4466T>G (p.Leu1489Arg) n.978T>G c.280T>G c.4475T>G (p.Leu1492Arg) c.4160T>G (p.Leu1387Arg) c.2057T>G (p.Leu686Arg) c.4499T>G (p.Leu1500Arg) c.4490T>G (p.Leu1497Arg) c.4481T>G (p.Leu1494Arg) c.2819T>G (p.Leu940Arg) | |
X | g.108687651C>A | CA10489359 | COL4A5 | c.4485C>A (p.Leu1495=) c.4467C>A (p.Leu1489=) n.979C>A c.281C>A c.4476C>A (p.Leu1492=) c.4161C>A (p.Leu1387=) c.2058C>A (p.Leu686=) c.4500C>A (p.Leu1500=) c.4491C>A (p.Leu1497=) c.4482C>A (p.Leu1494=) c.2820C>A (p.Leu940=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108687651C= | CA2450719230 | COL4A5 | c.4485C= (p.Leu1495=) c.4467C= (p.Leu1489=) n.979C= c.281C= c.4476C= (p.Leu1492=) c.4161C= (p.Leu1387=) c.2058C= (p.Leu686=) c.4500C= (p.Leu1500=) c.4491C= (p.Leu1497=) c.4482C= (p.Leu1494=) c.2820C= (p.Leu940=) | |
X | g.108687651C>G | CA517924652 | COL4A5 | c.4485C>G (p.Leu1495=) c.4467C>G (p.Leu1489=) n.979C>G c.281C>G c.4476C>G (p.Leu1492=) c.4161C>G (p.Leu1387=) c.2058C>G (p.Leu686=) c.4500C>G (p.Leu1500=) c.4491C>G (p.Leu1497=) c.4482C>G (p.Leu1494=) c.2820C>G (p.Leu940=) | |
X | g.108687651C>T | CA517924651 | COL4A5 | c.4485C>T (p.Leu1495=) c.4467C>T (p.Leu1489=) n.979C>T c.281C>T c.4476C>T (p.Leu1492=) c.4161C>T (p.Leu1387=) c.2058C>T (p.Leu686=) c.4500C>T (p.Leu1500=) c.4491C>T (p.Leu1497=) c.4482C>T (p.Leu1494=) c.2820C>T (p.Leu940=) | gnomAD v4 |
X | g.108687652C>A | CA413854652 | COL4A5 | c.4486C>A (p.Leu1496Met) c.4468C>A (p.Leu1490Met) n.980C>A c.282C>A c.4477C>A (p.Leu1493Met) c.4162C>A (p.Leu1388Met) c.2059C>A (p.Leu687Met) c.4501C>A (p.Leu1501Met) c.4492C>A (p.Leu1498Met) c.4483C>A (p.Leu1495Met) c.2821C>A (p.Leu941Met) | |
X | g.108687652C>G | CA413854654 | COL4A5 | c.4486C>G (p.Leu1496Val) c.4468C>G (p.Leu1490Val) n.980C>G c.282C>G c.4477C>G (p.Leu1493Val) c.4162C>G (p.Leu1388Val) c.2059C>G (p.Leu687Val) c.4501C>G (p.Leu1501Val) c.4492C>G (p.Leu1498Val) c.4483C>G (p.Leu1495Val) c.2821C>G (p.Leu941Val) | |
X | g.108687652C>T | CA517924654 | COL4A5 | c.4486C>T (p.Leu1496=) c.4468C>T (p.Leu1490=) n.980C>T c.282C>T c.4477C>T (p.Leu1493=) c.4162C>T (p.Leu1388=) c.2059C>T (p.Leu687=) c.4501C>T (p.Leu1501=) c.4492C>T (p.Leu1498=) c.4483C>T (p.Leu1495=) c.2821C>T (p.Leu941=) | ClinVar |
X | g.108687653T>A | CA413854657 | COL4A5 | c.4487T>A (p.Leu1496Gln) c.4469T>A (p.Leu1490Gln) n.981T>A c.283T>A c.4478T>A (p.Leu1493Gln) c.4163T>A (p.Leu1388Gln) c.2060T>A (p.Leu687Gln) c.4502T>A (p.Leu1501Gln) c.4493T>A (p.Leu1498Gln) c.4484T>A (p.Leu1495Gln) c.2822T>A (p.Leu941Gln) | |
X | g.108687653T>C | CA413854658 | COL4A5 | c.4487T>C (p.Leu1496Pro) c.4469T>C (p.Leu1490Pro) n.981T>C c.283T>C c.4478T>C (p.Leu1493Pro) c.4163T>C (p.Leu1388Pro) c.2060T>C (p.Leu687Pro) c.4502T>C (p.Leu1501Pro) c.4493T>C (p.Leu1498Pro) c.4484T>C (p.Leu1495Pro) c.2822T>C (p.Leu941Pro) | |
X | g.108687653T>G | CA413854660 | COL4A5 | c.4487T>G (p.Leu1496Arg) c.4469T>G (p.Leu1490Arg) n.981T>G c.283T>G c.4478T>G (p.Leu1493Arg) c.4163T>G (p.Leu1388Arg) c.2060T>G (p.Leu687Arg) c.4502T>G (p.Leu1501Arg) c.4493T>G (p.Leu1498Arg) c.4484T>G (p.Leu1495Arg) c.2822T>G (p.Leu941Arg) | |
X | g.108687654G>A | CA517924655 | COL4A5 | c.4488G>A (p.Leu1496=) c.4470G>A (p.Leu1490=) n.982G>A c.284G>A c.4479G>A (p.Leu1493=) c.4164G>A (p.Leu1388=) c.2061G>A (p.Leu687=) c.4503G>A (p.Leu1501=) c.4494G>A (p.Leu1498=) c.4485G>A (p.Leu1495=) c.2823G>A (p.Leu941=) | ClinVar gnomAD v4 |
X | g.108687654G>C | CA517924657 | COL4A5 | c.4488G>C (p.Leu1496=) c.4470G>C (p.Leu1490=) n.982G>C c.284G>C c.4479G>C (p.Leu1493=) c.4164G>C (p.Leu1388=) c.2061G>C (p.Leu687=) c.4503G>C (p.Leu1501=) c.4494G>C (p.Leu1498=) c.4485G>C (p.Leu1495=) c.2823G>C (p.Leu941=) | |
X | g.108687654G>T | CA517924658 | COL4A5 | c.4488G>T (p.Leu1496=) c.4470G>T (p.Leu1490=) n.982G>T c.284G>T c.4479G>T (p.Leu1493=) c.4164G>T (p.Leu1388=) c.2061G>T (p.Leu687=) c.4503G>T (p.Leu1501=) c.4494G>T (p.Leu1498=) c.4485G>T (p.Leu1495=) c.2823G>T (p.Leu941=) | |
X | g.108687655T>A | CA413854663 | COL4A5 | c.4489T>A (p.Tyr1497Asn) c.4471T>A (p.Tyr1491Asn) n.983T>A c.285T>A c.4480T>A (p.Tyr1494Asn) c.4165T>A (p.Tyr1389Asn) c.2062T>A (p.Tyr688Asn) c.4504T>A (p.Tyr1502Asn) c.4495T>A (p.Tyr1499Asn) c.4486T>A (p.Tyr1496Asn) c.2824T>A (p.Tyr942Asn) | |
X | g.108687655T>C | CA413854667 | COL4A5 | c.4489T>C (p.Tyr1497His) c.4471T>C (p.Tyr1491His) n.983T>C c.285T>C c.4480T>C (p.Tyr1494His) c.4165T>C (p.Tyr1389His) c.2062T>C (p.Tyr688His) c.4504T>C (p.Tyr1502His) c.4495T>C (p.Tyr1499His) c.4486T>C (p.Tyr1496His) c.2824T>C (p.Tyr942His) | gnomAD v4 COSMIC COSMIC |
X | g.108687655T>G | CA413854664 | COL4A5 | c.4489T>G (p.Tyr1497Asp) c.4471T>G (p.Tyr1491Asp) n.983T>G c.285T>G c.4480T>G (p.Tyr1494Asp) c.4165T>G (p.Tyr1389Asp) c.2062T>G (p.Tyr688Asp) c.4504T>G (p.Tyr1502Asp) c.4495T>G (p.Tyr1499Asp) c.4486T>G (p.Tyr1496Asp) c.2824T>G (p.Tyr942Asp) | |
X | g.108687656A>C | CA413854669 | COL4A5 | c.4490A>C (p.Tyr1497Ser) c.4472A>C (p.Tyr1491Ser) n.984A>C c.286A>C c.4481A>C (p.Tyr1494Ser) c.4166A>C (p.Tyr1389Ser) c.2063A>C (p.Tyr688Ser) c.4505A>C (p.Tyr1502Ser) c.4496A>C (p.Tyr1499Ser) c.4487A>C (p.Tyr1496Ser) c.2825A>C (p.Tyr942Ser) | |
X | g.108687656A>G | CA413854671 | COL4A5 | c.4490A>G (p.Tyr1497Cys) c.4472A>G (p.Tyr1491Cys) n.984A>G c.286A>G c.4481A>G (p.Tyr1494Cys) c.4166A>G (p.Tyr1389Cys) c.2063A>G (p.Tyr688Cys) c.4505A>G (p.Tyr1502Cys) c.4496A>G (p.Tyr1499Cys) c.4487A>G (p.Tyr1496Cys) c.2825A>G (p.Tyr942Cys) | gnomAD v4 |
X | g.108687656A>T | CA413854673 | COL4A5 | c.4490A>T (p.Tyr1497Phe) c.4472A>T (p.Tyr1491Phe) n.984A>T c.286A>T c.4481A>T (p.Tyr1494Phe) c.4166A>T (p.Tyr1389Phe) c.2063A>T (p.Tyr688Phe) c.4505A>T (p.Tyr1502Phe) c.4496A>T (p.Tyr1499Phe) c.4487A>T (p.Tyr1496Phe) c.2825A>T (p.Tyr942Phe) | |
X | g.108687657T>A | CA413854675 | COL4A5 | c.4491T>A (p.Tyr1497Ter) c.4473T>A (p.Tyr1491Ter) n.985T>A c.287T>A c.4482T>A (p.Tyr1494Ter) c.4167T>A (p.Tyr1389Ter) c.2064T>A (p.Tyr688Ter) c.4506T>A (p.Tyr1502Ter) c.4497T>A (p.Tyr1499Ter) c.4488T>A (p.Tyr1496Ter) c.2826T>A (p.Tyr942Ter) | |
X | g.108687657T>C | CA517924660 | COL4A5 | c.4491T>C (p.Tyr1497=) c.4473T>C (p.Tyr1491=) n.985T>C c.287T>C c.4482T>C (p.Tyr1494=) c.4167T>C (p.Tyr1389=) c.2064T>C (p.Tyr688=) c.4506T>C (p.Tyr1502=) c.4497T>C (p.Tyr1499=) c.4488T>C (p.Tyr1496=) c.2826T>C (p.Tyr942=) | ClinVar |
X | g.108687657T>G | CA413854677 | COL4A5 | c.4491T>G (p.Tyr1497Ter) c.4473T>G (p.Tyr1491Ter) n.985T>G c.287T>G c.4482T>G (p.Tyr1494Ter) c.4167T>G (p.Tyr1389Ter) c.2064T>G (p.Tyr688Ter) c.4506T>G (p.Tyr1502Ter) c.4497T>G (p.Tyr1499Ter) c.4488T>G (p.Tyr1496Ter) c.2826T>G (p.Tyr942Ter) | |
X | g.108687658G>A | CA413854680 | COL4A5 | c.4492G>A (p.Val1498Ile) c.4474G>A (p.Val1492Ile) n.986G>A c.288G>A c.4483G>A (p.Val1495Ile) c.4168G>A (p.Val1390Ile) c.2065G>A (p.Val689Ile) c.4507G>A (p.Val1503Ile) c.4498G>A (p.Val1500Ile) c.4489G>A (p.Val1497Ile) c.2827G>A (p.Val943Ile) | |
X | g.108687658G>C | CA413854682 | COL4A5 | c.4492G>C (p.Val1498Leu) c.4474G>C (p.Val1492Leu) n.986G>C c.288G>C c.4483G>C (p.Val1495Leu) c.4168G>C (p.Val1390Leu) c.2065G>C (p.Val689Leu) c.4507G>C (p.Val1503Leu) c.4498G>C (p.Val1500Leu) c.4489G>C (p.Val1497Leu) c.2827G>C (p.Val943Leu) | |
X | g.108687658G>T | CA413854684 | COL4A5 | c.4492G>T (p.Val1498Leu) c.4474G>T (p.Val1492Leu) n.986G>T c.288G>T c.4483G>T (p.Val1495Leu) c.4168G>T (p.Val1390Leu) c.2065G>T (p.Val689Leu) c.4507G>T (p.Val1503Leu) c.4498G>T (p.Val1500Leu) c.4489G>T (p.Val1497Leu) c.2827G>T (p.Val943Leu) | |
X | g.108687659T>A | CA413854686 | COL4A5 | c.4493T>A (p.Val1498Glu) c.4475T>A (p.Val1492Glu) n.987T>A c.289T>A c.4484T>A (p.Val1495Glu) c.4169T>A (p.Val1390Glu) c.2066T>A (p.Val689Glu) c.4508T>A (p.Val1503Glu) c.4499T>A (p.Val1500Glu) c.4490T>A (p.Val1497Glu) c.2828T>A (p.Val943Glu) | |
X | g.108687659T>C | CA413854689 | COL4A5 | c.4493T>C (p.Val1498Ala) c.4475T>C (p.Val1492Ala) n.987T>C c.289T>C c.4484T>C (p.Val1495Ala) c.4169T>C (p.Val1390Ala) c.2066T>C (p.Val689Ala) c.4508T>C (p.Val1503Ala) c.4499T>C (p.Val1500Ala) c.4490T>C (p.Val1497Ala) c.2828T>C (p.Val943Ala) | |
X | g.108687659T>G | CA413854691 | COL4A5 | c.4493T>G (p.Val1498Gly) c.4475T>G (p.Val1492Gly) n.987T>G c.289T>G c.4484T>G (p.Val1495Gly) c.4169T>G (p.Val1390Gly) c.2066T>G (p.Val689Gly) c.4508T>G (p.Val1503Gly) c.4499T>G (p.Val1500Gly) c.4490T>G (p.Val1497Gly) c.2828T>G (p.Val943Gly) | |
X | g.108687660A>C | CA517924666 | COL4A5 | c.4494A>C (p.Val1498=) c.4476A>C (p.Val1492=) n.988A>C c.290A>C c.4485A>C (p.Val1495=) c.4170A>C (p.Val1390=) c.2067A>C (p.Val689=) c.4509A>C (p.Val1503=) c.4500A>C (p.Val1500=) c.4491A>C (p.Val1497=) c.2829A>C (p.Val943=) | |
X | g.108687660A>G | CA517924664 | COL4A5 | c.4494A>G (p.Val1498=) c.4476A>G (p.Val1492=) n.988A>G c.290A>G c.4485A>G (p.Val1495=) c.4170A>G (p.Val1390=) c.2067A>G (p.Val689=) c.4509A>G (p.Val1503=) c.4500A>G (p.Val1500=) c.4491A>G (p.Val1497=) c.2829A>G (p.Val943=) | |
X | g.108687660A>T | CA517924665 | COL4A5 | c.4494A>T (p.Val1498=) c.4476A>T (p.Val1492=) n.988A>T c.290A>T c.4485A>T (p.Val1495=) c.4170A>T (p.Val1390=) c.2067A>T (p.Val689=) c.4509A>T (p.Val1503=) c.4500A>T (p.Val1500=) c.4491A>T (p.Val1497=) c.2829A>T (p.Val943=) | |
X | g.108687661C>A | CA413854697 | COL4A5 | c.4495C>A (p.Gln1499Lys) c.4477C>A (p.Gln1493Lys) n.989C>A c.291C>A c.4486C>A (p.Gln1496Lys) c.4171C>A (p.Gln1391Lys) c.2068C>A (p.Gln690Lys) c.4510C>A (p.Gln1504Lys) c.4501C>A (p.Gln1501Lys) c.4492C>A (p.Gln1498Lys) c.2830C>A (p.Gln944Lys) | |
X | g.108687661C>G | CA413854695 | COL4A5 | c.4495C>G (p.Gln1499Glu) c.4477C>G (p.Gln1493Glu) n.989C>G c.291C>G c.4486C>G (p.Gln1496Glu) c.4171C>G (p.Gln1391Glu) c.2068C>G (p.Gln690Glu) c.4510C>G (p.Gln1504Glu) c.4501C>G (p.Gln1501Glu) c.4492C>G (p.Gln1498Glu) c.2830C>G (p.Gln944Glu) | |
X | g.108687661C>T | CA413854693 | COL4A5 | c.4495C>T (p.Gln1499Ter) c.4477C>T (p.Gln1493Ter) n.989C>T c.291C>T c.4486C>T (p.Gln1496Ter) c.4171C>T (p.Gln1391Ter) c.2068C>T (p.Gln690Ter) c.4510C>T (p.Gln1504Ter) c.4501C>T (p.Gln1501Ter) c.4492C>T (p.Gln1498Ter) c.2830C>T (p.Gln944Ter) | |
X | g.108687662A= | CA2450719231 | COL4A5 | c.4496A= (p.Gln1499=) c.4478A= (p.Gln1493=) n.990A= c.292A= c.4487A= (p.Gln1496=) c.4172A= (p.Gln1391=) c.2069A= (p.Gln690=) c.4511A= (p.Gln1504=) c.4502A= (p.Gln1501=) c.4493A= (p.Gln1498=) c.2831A= (p.Gln944=) | |
X | g.108687662A>C | CA413854699 | COL4A5 | c.4496A>C (p.Gln1499Pro) c.4478A>C (p.Gln1493Pro) n.990A>C c.292A>C c.4487A>C (p.Gln1496Pro) c.4172A>C (p.Gln1391Pro) c.2069A>C (p.Gln690Pro) c.4511A>C (p.Gln1504Pro) c.4502A>C (p.Gln1501Pro) c.4493A>C (p.Gln1498Pro) c.2831A>C (p.Gln944Pro) | |
X | g.108687662A>G | CA413854701 | COL4A5 | c.4496A>G (p.Gln1499Arg) c.4478A>G (p.Gln1493Arg) n.990A>G c.292A>G c.4487A>G (p.Gln1496Arg) c.4172A>G (p.Gln1391Arg) c.2069A>G (p.Gln690Arg) c.4511A>G (p.Gln1504Arg) c.4502A>G (p.Gln1501Arg) c.4493A>G (p.Gln1498Arg) c.2831A>G (p.Gln944Arg) | gnomAD v4 |
X | g.108687662A>T | CA10489360 | COL4A5 | c.4496A>T (p.Gln1499Leu) c.4478A>T (p.Gln1493Leu) n.990A>T c.292A>T c.4487A>T (p.Gln1496Leu) c.4172A>T (p.Gln1391Leu) c.2069A>T (p.Gln690Leu) c.4511A>T (p.Gln1504Leu) c.4502A>T (p.Gln1501Leu) c.4493A>T (p.Gln1498Leu) c.2831A>T (p.Gln944Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108687663A>C | CA413854704 | COL4A5 | c.4497A>C (p.Gln1499His) c.4479A>C (p.Gln1493His) n.991A>C c.293A>C c.4488A>C (p.Gln1496His) c.4173A>C (p.Gln1391His) c.2070A>C (p.Gln690His) c.4512A>C (p.Gln1504His) c.4503A>C (p.Gln1501His) c.4494A>C (p.Gln1498His) c.2832A>C (p.Gln944His) | gnomAD v4 |
X | g.108687663A>G | CA517924669 | COL4A5 | c.4497A>G (p.Gln1499=) c.4479A>G (p.Gln1493=) n.991A>G c.293A>G c.4488A>G (p.Gln1496=) c.4173A>G (p.Gln1391=) c.2070A>G (p.Gln690=) c.4512A>G (p.Gln1504=) c.4503A>G (p.Gln1501=) c.4494A>G (p.Gln1498=) c.2832A>G (p.Gln944=) | |
X | g.108687663A>T | CA413854705 | COL4A5 | c.4497A>T (p.Gln1499His) c.4479A>T (p.Gln1493His) n.991A>T c.293A>T c.4488A>T (p.Gln1496His) c.4173A>T (p.Gln1391His) c.2070A>T (p.Gln690His) c.4512A>T (p.Gln1504His) c.4503A>T (p.Gln1501His) c.4494A>T (p.Gln1498His) c.2832A>T (p.Gln944His) | |
X | g.108687664G>A | CA413854707 | COL4A5 | c.4498G>A (p.Gly1500Arg) c.4480G>A (p.Gly1494Arg) n.992G>A c.294G>A c.4489G>A (p.Gly1497Arg) c.4174G>A (p.Gly1392Arg) c.2071G>A (p.Gly691Arg) c.4513G>A (p.Gly1505Arg) c.4504G>A (p.Gly1502Arg) c.4495G>A (p.Gly1499Arg) c.2833G>A (p.Gly945Arg) | |
X | g.108687664G>C | CA413854709 | COL4A5 | c.4498G>C (p.Gly1500Arg) c.4480G>C (p.Gly1494Arg) n.992G>C c.294G>C c.4489G>C (p.Gly1497Arg) c.4174G>C (p.Gly1392Arg) c.2071G>C (p.Gly691Arg) c.4513G>C (p.Gly1505Arg) c.4504G>C (p.Gly1502Arg) c.4495G>C (p.Gly1499Arg) c.2833G>C (p.Gly945Arg) | |
X | g.108687664G>T | CA413854711 | COL4A5 | c.4498G>T (p.Gly1500Ter) c.4480G>T (p.Gly1494Ter) n.992G>T c.294G>T c.4489G>T (p.Gly1497Ter) c.4174G>T (p.Gly1392Ter) c.2071G>T (p.Gly691Ter) c.4513G>T (p.Gly1505Ter) c.4504G>T (p.Gly1502Ter) c.4495G>T (p.Gly1499Ter) c.2833G>T (p.Gly945Ter) | |
X | g.108687665G>A | CA334059231 | COL4A5 | c.4499G>A (p.Gly1500Glu) c.4481G>A (p.Gly1494Glu) n.993G>A c.295G>A c.4490G>A (p.Gly1497Glu) c.4175G>A (p.Gly1392Glu) c.2072G>A (p.Gly691Glu) c.4514G>A (p.Gly1505Glu) c.4505G>A (p.Gly1502Glu) c.4496G>A (p.Gly1499Glu) c.2834G>A (p.Gly945Glu) | dbSNP |
X | g.108687665G>C | CA413854714 | COL4A5 | c.4499G>C (p.Gly1500Ala) c.4481G>C (p.Gly1494Ala) n.993G>C c.295G>C c.4490G>C (p.Gly1497Ala) c.4175G>C (p.Gly1392Ala) c.2072G>C (p.Gly691Ala) c.4514G>C (p.Gly1505Ala) c.4505G>C (p.Gly1502Ala) c.4496G>C (p.Gly1499Ala) c.2834G>C (p.Gly945Ala) | |
X | g.108687665G= | CA2450719232 | COL4A5 | c.4499G= (p.Gly1500=) c.4481G= (p.Gly1494=) n.993G= c.295G= c.4490G= (p.Gly1497=) c.4175G= (p.Gly1392=) c.2072G= (p.Gly691=) c.4514G= (p.Gly1505=) c.4505G= (p.Gly1502=) c.4496G= (p.Gly1499=) c.2834G= (p.Gly945=) | |
X | g.108687665G>T | CA413854716 | COL4A5 | c.4499G>T (p.Gly1500Val) c.4481G>T (p.Gly1494Val) n.993G>T c.295G>T c.4490G>T (p.Gly1497Val) c.4175G>T (p.Gly1392Val) c.2072G>T (p.Gly691Val) c.4514G>T (p.Gly1505Val) c.4505G>T (p.Gly1502Val) c.4496G>T (p.Gly1499Val) c.2834G>T (p.Gly945Val) | |
X | g.108687666A= | CA2450719233 | COL4A5 | c.4500A= (p.Gly1500=) c.4482A= (p.Gly1494=) n.994A= c.296A= c.4491A= (p.Gly1497=) c.4176A= (p.Gly1392=) c.2073A= (p.Gly691=) c.4515A= (p.Gly1505=) c.4506A= (p.Gly1502=) c.4497A= (p.Gly1499=) c.2835A= (p.Gly945=) | |
X | g.108687666A>C | CA517924674 | COL4A5 | c.4500A>C (p.Gly1500=) c.4482A>C (p.Gly1494=) n.994A>C c.296A>C c.4491A>C (p.Gly1497=) c.4176A>C (p.Gly1392=) c.2073A>C (p.Gly691=) c.4515A>C (p.Gly1505=) c.4506A>C (p.Gly1502=) c.4497A>C (p.Gly1499=) c.2835A>C (p.Gly945=) | |
X | g.108687666A>G | CA10489361 | COL4A5 | c.4500A>G (p.Gly1500=) c.4482A>G (p.Gly1494=) n.994A>G c.296A>G c.4491A>G (p.Gly1497=) c.4176A>G (p.Gly1392=) c.2073A>G (p.Gly691=) c.4515A>G (p.Gly1505=) c.4506A>G (p.Gly1502=) c.4497A>G (p.Gly1499=) c.2835A>G (p.Gly945=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108687666A>T | CA517924673 | COL4A5 | c.4500A>T (p.Gly1500=) c.4482A>T (p.Gly1494=) n.994A>T c.296A>T c.4491A>T (p.Gly1497=) c.4176A>T (p.Gly1392=) c.2073A>T (p.Gly691=) c.4515A>T (p.Gly1505=) c.4506A>T (p.Gly1502=) c.4497A>T (p.Gly1499=) c.2835A>T (p.Gly945=) | |
X | g.108687667A>C | CA413854722 | COL4A5 | c.4501A>C (p.Asn1501His) c.4483A>C (p.Asn1495His) n.995A>C c.297A>C c.4492A>C (p.Asn1498His) c.4177A>C (p.Asn1393His) c.2074A>C (p.Asn692His) c.4516A>C (p.Asn1506His) c.4507A>C (p.Asn1503His) c.4498A>C (p.Asn1500His) c.2836A>C (p.Asn946His) | |
X | g.108687667A>G | CA413854720 | COL4A5 | c.4501A>G (p.Asn1501Asp) c.4483A>G (p.Asn1495Asp) n.995A>G c.297A>G c.4492A>G (p.Asn1498Asp) c.4177A>G (p.Asn1393Asp) c.2074A>G (p.Asn692Asp) c.4516A>G (p.Asn1506Asp) c.4507A>G (p.Asn1503Asp) c.4498A>G (p.Asn1500Asp) c.2836A>G (p.Asn946Asp) | |
X | g.108687667A>T | CA413854718 | COL4A5 | c.4501A>T (p.Asn1501Tyr) c.4483A>T (p.Asn1495Tyr) n.995A>T c.297A>T c.4492A>T (p.Asn1498Tyr) c.4177A>T (p.Asn1393Tyr) c.2074A>T (p.Asn692Tyr) c.4516A>T (p.Asn1506Tyr) c.4507A>T (p.Asn1503Tyr) c.4498A>T (p.Asn1500Tyr) c.2836A>T (p.Asn946Tyr) | |
X | g.108687668A>C | CA413854723 | COL4A5 | c.4502A>C (p.Asn1501Thr) c.4484A>C (p.Asn1495Thr) n.996A>C c.298A>C c.4493A>C (p.Asn1498Thr) c.4178A>C (p.Asn1393Thr) c.2075A>C (p.Asn692Thr) c.4517A>C (p.Asn1506Thr) c.4508A>C (p.Asn1503Thr) c.4499A>C (p.Asn1500Thr) c.2837A>C (p.Asn946Thr) | |
X | g.108687668A>G | CA413854728 | COL4A5 | c.4502A>G (p.Asn1501Ser) c.4484A>G (p.Asn1495Ser) n.996A>G c.298A>G c.4493A>G (p.Asn1498Ser) c.4178A>G (p.Asn1393Ser) c.2075A>G (p.Asn692Ser) c.4517A>G (p.Asn1506Ser) c.4508A>G (p.Asn1503Ser) c.4499A>G (p.Asn1500Ser) c.2837A>G (p.Asn946Ser) | |
X | g.108687668A>T | CA413854726 | COL4A5 | c.4502A>T (p.Asn1501Ile) c.4484A>T (p.Asn1495Ile) n.996A>T c.298A>T c.4493A>T (p.Asn1498Ile) c.4178A>T (p.Asn1393Ile) c.2075A>T (p.Asn692Ile) c.4517A>T (p.Asn1506Ile) c.4508A>T (p.Asn1503Ile) c.4499A>T (p.Asn1500Ile) c.2837A>T (p.Asn946Ile) | |
X | g.108687669T>A | CA413854731 | COL4A5 | c.4503T>A (p.Asn1501Lys) c.4485T>A (p.Asn1495Lys) n.997T>A c.299T>A c.4494T>A (p.Asn1498Lys) c.4179T>A (p.Asn1393Lys) c.2076T>A (p.Asn692Lys) c.4518T>A (p.Asn1506Lys) c.4509T>A (p.Asn1503Lys) c.4500T>A (p.Asn1500Lys) c.2838T>A (p.Asn946Lys) | |
X | g.108687669T>C | CA517924678 | COL4A5 | c.4503T>C (p.Asn1501=) c.4485T>C (p.Asn1495=) n.997T>C c.299T>C c.4494T>C (p.Asn1498=) c.4179T>C (p.Asn1393=) c.2076T>C (p.Asn692=) c.4518T>C (p.Asn1506=) c.4509T>C (p.Asn1503=) c.4500T>C (p.Asn1500=) c.2838T>C (p.Asn946=) | COSMIC COSMIC |
X | g.108687669T>G | CA413854733 | COL4A5 | c.4503T>G (p.Asn1501Lys) c.4485T>G (p.Asn1495Lys) n.997T>G c.299T>G c.4494T>G (p.Asn1498Lys) c.4179T>G (p.Asn1393Lys) c.2076T>G (p.Asn692Lys) c.4518T>G (p.Asn1506Lys) c.4509T>G (p.Asn1503Lys) c.4500T>G (p.Asn1500Lys) c.2838T>G (p.Asn946Lys) | |
X | g.108687669_108687671delinsTAA | CA2450719236 | COL4A5 | c.4503_4505delinsTAA (p.Asn1501=) c.4485_4487delinsTAA (p.Asn1495=) n.997_999delinsTAA c.299_301delinsTAA c.4494_4496delinsTAA (p.Asn1498=) c.4179_4181delinsTAA (p.Asn1393=) c.2076_2078delinsTAA (p.Asn692=) c.4518_4520delinsTAA (p.Asn1506=) c.4509_4511delinsTAA (p.Asn1503=) c.4500_4502delinsTAA (p.Asn1500=) c.2838_2840delinsTAA (p.Asn946=) | |
X | g.108687670A>C | CA413854736 | COL4A5 | c.4504A>C (p.Lys1502Gln) c.4486A>C (p.Lys1496Gln) n.998A>C c.300A>C c.4495A>C (p.Lys1499Gln) c.4180A>C (p.Lys1394Gln) c.2077A>C (p.Lys693Gln) c.4519A>C (p.Lys1507Gln) c.4510A>C (p.Lys1504Gln) c.4501A>C (p.Lys1501Gln) c.2839A>C (p.Lys947Gln) | |
X | g.108687670A>G | CA413854737 | COL4A5 | c.4504A>G (p.Lys1502Glu) c.4486A>G (p.Lys1496Glu) n.998A>G c.300A>G c.4495A>G (p.Lys1499Glu) c.4180A>G (p.Lys1394Glu) c.2077A>G (p.Lys693Glu) c.4519A>G (p.Lys1507Glu) c.4510A>G (p.Lys1504Glu) c.4501A>G (p.Lys1501Glu) c.2839A>G (p.Lys947Glu) | COSMIC COSMIC |
X | g.108687670A>T | CA413854739 | COL4A5 | c.4504A>T (p.Lys1502Ter) c.4486A>T (p.Lys1496Ter) n.998A>T c.300A>T c.4495A>T (p.Lys1499Ter) c.4180A>T (p.Lys1394Ter) c.2077A>T (p.Lys693Ter) c.4519A>T (p.Lys1507Ter) c.4510A>T (p.Lys1504Ter) c.4501A>T (p.Lys1501Ter) c.2839A>T (p.Lys947Ter) | ClinVar |
X | g.108687673del | CA2580100177 | COL4A5 | c.4507del (p.Arg1503GlufsTer?) c.4489del (p.Arg1497GlufsTer?) n.1001del c.303del c.4498del (p.Arg1500GlufsTer?) c.4183del (p.Arg1395GlufsTer?) c.2080del (p.Arg694GlufsTer?) c.4522del (p.Arg1508GlufsTer?) c.4513del (p.Arg1505GlufsTer?) c.4504del (p.Arg1502GlufsTer?) c.2842del (p.Arg948GlufsTer?) | ClinVar |
X | g.108687672_108687673del | CA915951312 | COL4A5 | c.4506_4507del (p.Arg1503SerfsTer17) c.4488_4489del (p.Arg1497SerfsTer17) n.1000_1001del c.302_303del c.4497_4498del (p.Arg1500SerfsTer17) c.4182_4183del (p.Arg1395SerfsTer17) c.2079_2080del (p.Arg694SerfsTer17) c.4521_4522del (p.Arg1508SerfsTer17) c.4512_4513del (p.Arg1505SerfsTer17) c.4503_4504del (p.Arg1502SerfsTer17) c.2841_2842del (p.Arg948SerfsTer17) | ClinVar dbSNP |
X | g.108687671A= | CA2450719239 | COL4A5 | c.4505A= (p.Lys1502=) c.4487A= (p.Lys1496=) n.999A= c.301A= c.4496A= (p.Lys1499=) c.4181A= (p.Lys1394=) c.2078A= (p.Lys693=) c.4520A= (p.Lys1507=) c.4511A= (p.Lys1504=) c.4502A= (p.Lys1501=) c.2840A= (p.Lys947=) | |
X | g.108687671A>C | CA413854741 | COL4A5 | c.4505A>C (p.Lys1502Thr) c.4487A>C (p.Lys1496Thr) n.999A>C c.301A>C c.4496A>C (p.Lys1499Thr) c.4181A>C (p.Lys1394Thr) c.2078A>C (p.Lys693Thr) c.4520A>C (p.Lys1507Thr) c.4511A>C (p.Lys1504Thr) c.4502A>C (p.Lys1501Thr) c.2840A>C (p.Lys947Thr) | |
X | g.108687671A>G | CA413854742 | COL4A5 | c.4505A>G (p.Lys1502Arg) c.4487A>G (p.Lys1496Arg) n.999A>G c.301A>G c.4496A>G (p.Lys1499Arg) c.4181A>G (p.Lys1394Arg) c.2078A>G (p.Lys693Arg) c.4520A>G (p.Lys1507Arg) c.4511A>G (p.Lys1504Arg) c.4502A>G (p.Lys1501Arg) c.2840A>G (p.Lys947Arg) | dbSNP gnomAD v4 |
X | g.108687671A>T | CA413854744 | COL4A5 | c.4505A>T (p.Lys1502Ile) c.4487A>T (p.Lys1496Ile) n.999A>T c.301A>T c.4496A>T (p.Lys1499Ile) c.4181A>T (p.Lys1394Ile) c.2078A>T (p.Lys693Ile) c.4520A>T (p.Lys1507Ile) c.4511A>T (p.Lys1504Ile) c.4502A>T (p.Lys1501Ile) c.2840A>T (p.Lys947Ile) | |
X | g.108687672A>C | CA413854746 | COL4A5 | c.4506A>C (p.Lys1502Asn) c.4488A>C (p.Lys1496Asn) n.1000A>C c.302A>C c.4497A>C (p.Lys1499Asn) c.4182A>C (p.Lys1394Asn) c.2079A>C (p.Lys693Asn) c.4521A>C (p.Lys1507Asn) c.4512A>C (p.Lys1504Asn) c.4503A>C (p.Lys1501Asn) c.2841A>C (p.Lys947Asn) | |
X | g.108687672A>G | CA517924682 | COL4A5 | c.4506A>G (p.Lys1502=) c.4488A>G (p.Lys1496=) n.1000A>G c.302A>G c.4497A>G (p.Lys1499=) c.4182A>G (p.Lys1394=) c.2079A>G (p.Lys693=) c.4521A>G (p.Lys1507=) c.4512A>G (p.Lys1504=) c.4503A>G (p.Lys1501=) c.2841A>G (p.Lys947=) | |
X | g.108687672A>T | CA413854748 | COL4A5 | c.4506A>T (p.Lys1502Asn) c.4488A>T (p.Lys1496Asn) n.1000A>T c.302A>T c.4497A>T (p.Lys1499Asn) c.4182A>T (p.Lys1394Asn) c.2079A>T (p.Lys693Asn) c.4521A>T (p.Lys1507Asn) c.4512A>T (p.Lys1504Asn) c.4503A>T (p.Lys1501Asn) c.2841A>T (p.Lys947Asn) | |
X | g.108687672_108687674delinsAAG | CA2450719240 | COL4A5 | c.4506_4508delinsAAG (p.Lys1502=) c.4488_4490delinsAAG (p.Lys1496=) n.1000_1002delinsAAG c.302_304delinsAAG c.4497_4499delinsAAG (p.Lys1499=) c.4182_4184delinsAAG (p.Lys1394=) c.2079_2081delinsAAG (p.Lys693=) c.4521_4523delinsAAG (p.Lys1507=) c.4512_4514delinsAAG (p.Lys1504=) c.4503_4505delinsAAG (p.Lys1501=) c.2841_2843delinsAAG (p.Lys947=) | |
X | g.108687676_108687689del | CA2695235239 | COL4A5 | c.4510_4523del (p.Ala1504LeufsTer12) c.4492_4505del (p.Ala1498LeufsTer12) n.1004_1017del c.306_319del c.4501_4514del (p.Ala1501LeufsTer12) c.4186_4199del (p.Ala1396LeufsTer12) c.2083_2096del (p.Ala695LeufsTer12) c.4525_4538del (p.Ala1509LeufsTer12) c.4516_4529del (p.Ala1506LeufsTer12) c.4507_4520del (p.Ala1503LeufsTer12) c.2845_2858del (p.Ala949LeufsTer12) | |
X | g.108687673A>C | CA517924683 | COL4A5 | c.4507A>C (p.Arg1503=) c.4489A>C (p.Arg1497=) n.1001A>C c.303A>C c.4498A>C (p.Arg1500=) c.4183A>C (p.Arg1395=) c.2080A>C (p.Arg694=) c.4522A>C (p.Arg1508=) c.4513A>C (p.Arg1505=) c.4504A>C (p.Arg1502=) c.2842A>C (p.Arg948=) | |
X | g.108687673A>G | CA413854750 | COL4A5 | c.4507A>G (p.Arg1503Gly) c.4489A>G (p.Arg1497Gly) n.1001A>G c.303A>G c.4498A>G (p.Arg1500Gly) c.4183A>G (p.Arg1395Gly) c.2080A>G (p.Arg694Gly) c.4522A>G (p.Arg1508Gly) c.4513A>G (p.Arg1505Gly) c.4504A>G (p.Arg1502Gly) c.2842A>G (p.Arg948Gly) | |
X | g.108687673A>T | CA413854752 | COL4A5 | c.4507A>T (p.Arg1503Ter) c.4489A>T (p.Arg1497Ter) n.1001A>T c.303A>T c.4498A>T (p.Arg1500Ter) c.4183A>T (p.Arg1395Ter) c.2080A>T (p.Arg694Ter) c.4522A>T (p.Arg1508Ter) c.4513A>T (p.Arg1505Ter) c.4504A>T (p.Arg1502Ter) c.2842A>T (p.Arg948Ter) | |
X | g.108687675_108687676del | CA259052 | COL4A5 | c.4509_4510del (p.Arg1503SerfsTer17) c.4491_4492del (p.Arg1497SerfsTer17) n.1003_1004del c.305_306del c.4500_4501del (p.Arg1500SerfsTer17) c.4185_4186del (p.Arg1395SerfsTer17) c.2082_2083del (p.Arg694SerfsTer17) c.4524_4525del (p.Arg1508SerfsTer17) c.4515_4516del (p.Arg1505SerfsTer17) c.4506_4507del (p.Arg1502SerfsTer17) c.2844_2845del (p.Arg948SerfsTer17) | dbSNP |
X | g.108687674del | CA2739290547 | COL4A5 | c.4508del (p.Arg1503LysfsTer?) c.4490del (p.Arg1497LysfsTer?) n.1002del c.304del c.4499del (p.Arg1500LysfsTer?) c.4184del (p.Arg1395LysfsTer?) c.2081del (p.Arg694LysfsTer?) c.4523del (p.Arg1508LysfsTer?) c.4514del (p.Arg1505LysfsTer?) c.4505del (p.Arg1502LysfsTer?) c.2843del (p.Arg948LysfsTer?) | |
X | g.108687674G>A | CA413854754 | COL4A5 | c.4508G>A (p.Arg1503Lys) c.4490G>A (p.Arg1497Lys) n.1002G>A c.304G>A c.4499G>A (p.Arg1500Lys) c.4184G>A (p.Arg1395Lys) c.2081G>A (p.Arg694Lys) c.4523G>A (p.Arg1508Lys) c.4514G>A (p.Arg1505Lys) c.4505G>A (p.Arg1502Lys) c.2843G>A (p.Arg948Lys) | |
X | g.108687674G>C | CA413854756 | COL4A5 | c.4508G>C (p.Arg1503Thr) c.4490G>C (p.Arg1497Thr) n.1002G>C c.304G>C c.4499G>C (p.Arg1500Thr) c.4184G>C (p.Arg1395Thr) c.2081G>C (p.Arg694Thr) c.4523G>C (p.Arg1508Thr) c.4514G>C (p.Arg1505Thr) c.4505G>C (p.Arg1502Thr) c.2843G>C (p.Arg948Thr) | ClinVar dbSNP |
X | g.108687674G>T | CA413854758 | COL4A5 | c.4508G>T (p.Arg1503Ile) c.4490G>T (p.Arg1497Ile) n.1002G>T c.304G>T c.4499G>T (p.Arg1500Ile) c.4184G>T (p.Arg1395Ile) c.2081G>T (p.Arg694Ile) c.4523G>T (p.Arg1508Ile) c.4514G>T (p.Arg1505Ile) c.4505G>T (p.Arg1502Ile) c.2843G>T (p.Arg948Ile) | |
X | g.108687675A>C | CA413854760 | COL4A5 | c.4509A>C (p.Arg1503Ser) c.4491A>C (p.Arg1497Ser) n.1003A>C c.305A>C c.4500A>C (p.Arg1500Ser) c.4185A>C (p.Arg1395Ser) c.2082A>C (p.Arg694Ser) c.4524A>C (p.Arg1508Ser) c.4515A>C (p.Arg1505Ser) c.4506A>C (p.Arg1502Ser) c.2844A>C (p.Arg948Ser) | |
X | g.108687675A>G | CA517924687 | COL4A5 | c.4509A>G (p.Arg1503=) c.4491A>G (p.Arg1497=) n.1003A>G c.305A>G c.4500A>G (p.Arg1500=) c.4185A>G (p.Arg1395=) c.2082A>G (p.Arg694=) c.4524A>G (p.Arg1508=) c.4515A>G (p.Arg1505=) c.4506A>G (p.Arg1502=) c.2844A>G (p.Arg948=) | |
X | g.108687675A>T | CA413854762 | COL4A5 | c.4509A>T (p.Arg1503Ser) c.4491A>T (p.Arg1497Ser) n.1003A>T c.305A>T c.4500A>T (p.Arg1500Ser) c.4185A>T (p.Arg1395Ser) c.2082A>T (p.Arg694Ser) c.4524A>T (p.Arg1508Ser) c.4515A>T (p.Arg1505Ser) c.4506A>T (p.Arg1502Ser) c.2844A>T (p.Arg948Ser) | |
X | g.108687676del | CA2695235240 | COL4A5 | c.4510del (p.Ala1504ProfsTer?) c.4492del (p.Ala1498ProfsTer?) n.1004del c.306del c.4501del (p.Ala1501ProfsTer?) c.4186del (p.Ala1396ProfsTer?) c.2083del (p.Ala695ProfsTer?) c.4525del (p.Ala1509ProfsTer?) c.4516del (p.Ala1506ProfsTer?) c.4507del (p.Ala1503ProfsTer?) c.2845del (p.Ala949ProfsTer?) | |
X | g.108687676G>A | CA413854764 | COL4A5 | c.4510G>A (p.Ala1504Thr) c.4492G>A (p.Ala1498Thr) n.1004G>A c.306G>A c.4501G>A (p.Ala1501Thr) c.4186G>A (p.Ala1396Thr) c.2083G>A (p.Ala695Thr) c.4525G>A (p.Ala1509Thr) c.4516G>A (p.Ala1506Thr) c.4507G>A (p.Ala1503Thr) c.2845G>A (p.Ala949Thr) | |
X | g.108687676G>C | CA413854766 | COL4A5 | c.4510G>C (p.Ala1504Pro) c.4492G>C (p.Ala1498Pro) n.1004G>C c.306G>C c.4501G>C (p.Ala1501Pro) c.4186G>C (p.Ala1396Pro) c.2083G>C (p.Ala695Pro) c.4525G>C (p.Ala1509Pro) c.4516G>C (p.Ala1506Pro) c.4507G>C (p.Ala1503Pro) c.2845G>C (p.Ala949Pro) | |
X | g.108687676G>T | CA413854768 | COL4A5 | c.4510G>T (p.Ala1504Ser) c.4492G>T (p.Ala1498Ser) n.1004G>T c.306G>T c.4501G>T (p.Ala1501Ser) c.4186G>T (p.Ala1396Ser) c.2083G>T (p.Ala695Ser) c.4525G>T (p.Ala1509Ser) c.4516G>T (p.Ala1506Ser) c.4507G>T (p.Ala1503Ser) c.2845G>T (p.Ala949Ser) | |
X | g.108687677C>A | CA259055 | COL4A5 | c.4511C>A (p.Ala1504Asp) c.4493C>A (p.Ala1498Asp) n.1005C>A c.307C>A c.4502C>A (p.Ala1501Asp) c.4187C>A (p.Ala1396Asp) c.2084C>A (p.Ala695Asp) c.4526C>A (p.Ala1509Asp) c.4517C>A (p.Ala1506Asp) c.4508C>A (p.Ala1503Asp) c.2846C>A (p.Ala949Asp) | dbSNP |
X | g.108687677C= | CA2450719243 | COL4A5 | c.4511C= (p.Ala1504=) c.4493C= (p.Ala1498=) n.1005C= c.307C= c.4502C= (p.Ala1501=) c.4187C= (p.Ala1396=) c.2084C= (p.Ala695=) c.4526C= (p.Ala1509=) c.4517C= (p.Ala1506=) c.4508C= (p.Ala1503=) c.2846C= (p.Ala949=) | |
X | g.108687677C>G | CA413854772 | COL4A5 | c.4511C>G (p.Ala1504Gly) c.4493C>G (p.Ala1498Gly) n.1005C>G c.307C>G c.4502C>G (p.Ala1501Gly) c.4187C>G (p.Ala1396Gly) c.2084C>G (p.Ala695Gly) c.4526C>G (p.Ala1509Gly) c.4517C>G (p.Ala1506Gly) c.4508C>G (p.Ala1503Gly) c.2846C>G (p.Ala949Gly) | |
X | g.108687677C>T | CA413854774 | COL4A5 | c.4511C>T (p.Ala1504Val) c.4493C>T (p.Ala1498Val) n.1005C>T c.307C>T c.4502C>T (p.Ala1501Val) c.4187C>T (p.Ala1396Val) c.2084C>T (p.Ala695Val) c.4526C>T (p.Ala1509Val) c.4517C>T (p.Ala1506Val) c.4508C>T (p.Ala1503Val) c.2846C>T (p.Ala949Val) | |
X | g.108687678C>A | CA517924688 | COL4A5 | c.4512C>A (p.Ala1504=) c.4494C>A (p.Ala1498=) n.1006C>A c.308C>A c.4503C>A (p.Ala1501=) c.4188C>A (p.Ala1396=) c.2085C>A (p.Ala695=) c.4527C>A (p.Ala1509=) c.4518C>A (p.Ala1506=) c.4509C>A (p.Ala1503=) c.2847C>A (p.Ala949=) | |
X | g.108687678C= | CA2450719246 | COL4A5 | c.4512C= (p.Ala1504=) c.4494C= (p.Ala1498=) n.1006C= c.308C= c.4503C= (p.Ala1501=) c.4188C= (p.Ala1396=) c.2085C= (p.Ala695=) c.4527C= (p.Ala1509=) c.4518C= (p.Ala1506=) c.4509C= (p.Ala1503=) c.2847C= (p.Ala949=) | |
X | g.108687678C>G | CA517924689 | COL4A5 | c.4512C>G (p.Ala1504=) c.4494C>G (p.Ala1498=) n.1006C>G c.308C>G c.4503C>G (p.Ala1501=) c.4188C>G (p.Ala1396=) c.2085C>G (p.Ala695=) c.4527C>G (p.Ala1509=) c.4518C>G (p.Ala1506=) c.4509C>G (p.Ala1503=) c.2847C>G (p.Ala949=) | |
X | g.108687678C>T | CA517924690 | COL4A5 | c.4512C>T (p.Ala1504=) c.4494C>T (p.Ala1498=) n.1006C>T c.308C>T c.4503C>T (p.Ala1501=) c.4188C>T (p.Ala1396=) c.2085C>T (p.Ala695=) c.4527C>T (p.Ala1509=) c.4518C>T (p.Ala1506=) c.4509C>T (p.Ala1503=) c.2847C>T (p.Ala949=) | ClinVar dbSNP gnomAD v4 |
X | g.108687679C>A | CA413854776 | COL4A5 | c.4513C>A (p.His1505Asn) c.4495C>A (p.His1499Asn) n.1007C>A c.309C>A c.4504C>A (p.His1502Asn) c.4189C>A (p.His1397Asn) c.2086C>A (p.His696Asn) c.4528C>A (p.His1510Asn) c.4519C>A (p.His1507Asn) c.4510C>A (p.His1504Asn) c.2848C>A (p.His950Asn) | |
X | g.108687679C>G | CA413854778 | COL4A5 | c.4513C>G (p.His1505Asp) c.4495C>G (p.His1499Asp) n.1007C>G c.309C>G c.4504C>G (p.His1502Asp) c.4189C>G (p.His1397Asp) c.2086C>G (p.His696Asp) c.4528C>G (p.His1510Asp) c.4519C>G (p.His1507Asp) c.4510C>G (p.His1504Asp) c.2848C>G (p.His950Asp) | |
X | g.108687679C>T | CA413854781 | COL4A5 | c.4513C>T (p.His1505Tyr) c.4495C>T (p.His1499Tyr) n.1007C>T c.309C>T c.4504C>T (p.His1502Tyr) c.4189C>T (p.His1397Tyr) c.2086C>T (p.His696Tyr) c.4528C>T (p.His1510Tyr) c.4519C>T (p.His1507Tyr) c.4510C>T (p.His1504Tyr) c.2848C>T (p.His950Tyr) | |
X | g.108687680A>C | CA413854788 | COL4A5 | c.4514A>C (p.His1505Pro) c.4496A>C (p.His1499Pro) n.1008A>C c.310A>C c.4505A>C (p.His1502Pro) c.4190A>C (p.His1397Pro) c.2087A>C (p.His696Pro) c.4529A>C (p.His1510Pro) c.4520A>C (p.His1507Pro) c.4511A>C (p.His1504Pro) c.2849A>C (p.His950Pro) | |
X | g.108687680A>G | CA413854786 | COL4A5 | c.4514A>G (p.His1505Arg) c.4496A>G (p.His1499Arg) n.1008A>G c.310A>G c.4505A>G (p.His1502Arg) c.4190A>G (p.His1397Arg) c.2087A>G (p.His696Arg) c.4529A>G (p.His1510Arg) c.4520A>G (p.His1507Arg) c.4511A>G (p.His1504Arg) c.2849A>G (p.His950Arg) | |
X | g.108687680A>T | CA413854783 | COL4A5 | c.4514A>T (p.His1505Leu) c.4496A>T (p.His1499Leu) n.1008A>T c.310A>T c.4505A>T (p.His1502Leu) c.4190A>T (p.His1397Leu) c.2087A>T (p.His696Leu) c.4529A>T (p.His1510Leu) c.4520A>T (p.His1507Leu) c.4511A>T (p.His1504Leu) c.2849A>T (p.His950Leu) | |
X | g.108687681C>A | CA413854790 | COL4A5 | c.4515C>A (p.His1505Gln) c.4497C>A (p.His1499Gln) n.1009C>A c.311C>A c.4506C>A (p.His1502Gln) c.4191C>A (p.His1397Gln) c.2088C>A (p.His696Gln) c.4530C>A (p.His1510Gln) c.4521C>A (p.His1507Gln) c.4512C>A (p.His1504Gln) c.2850C>A (p.His950Gln) | |
X | g.108687681C= | CA2450719247 | COL4A5 | c.4515C= (p.His1505=) c.4497C= (p.His1499=) n.1009C= c.311C= c.4506C= (p.His1502=) c.4191C= (p.His1397=) c.2088C= (p.His696=) c.4530C= (p.His1510=) c.4521C= (p.His1507=) c.4512C= (p.His1504=) c.2850C= (p.His950=) | |
X | g.108687681C>G | CA413854792 | COL4A5 | c.4515C>G (p.His1505Gln) c.4497C>G (p.His1499Gln) n.1009C>G c.311C>G c.4506C>G (p.His1502Gln) c.4191C>G (p.His1397Gln) c.2088C>G (p.His696Gln) c.4530C>G (p.His1510Gln) c.4521C>G (p.His1507Gln) c.4512C>G (p.His1504Gln) c.2850C>G (p.His950Gln) | |
X | g.108687681C>T | CA10489362 | COL4A5 | c.4515C>T (p.His1505=) c.4497C>T (p.His1499=) n.1009C>T c.311C>T c.4506C>T (p.His1502=) c.4191C>T (p.His1397=) c.2088C>T (p.His696=) c.4530C>T (p.His1510=) c.4521C>T (p.His1507=) c.4512C>T (p.His1504=) c.2850C>T (p.His950=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108687682G>A | CA10489363 | COL4A5 | c.4516G>A (p.Gly1506Ser) c.4498G>A (p.Gly1500Ser) n.1010G>A c.312G>A c.4507G>A (p.Gly1503Ser) c.4192G>A (p.Gly1398Ser) c.2089G>A (p.Gly697Ser) c.4531G>A (p.Gly1511Ser) c.4522G>A (p.Gly1508Ser) c.4513G>A (p.Gly1505Ser) c.2851G>A (p.Gly951Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108687682G>C | CA413854796 | COL4A5 | c.4516G>C (p.Gly1506Arg) c.4498G>C (p.Gly1500Arg) n.1010G>C c.312G>C c.4507G>C (p.Gly1503Arg) c.4192G>C (p.Gly1398Arg) c.2089G>C (p.Gly697Arg) c.4531G>C (p.Gly1511Arg) c.4522G>C (p.Gly1508Arg) c.4513G>C (p.Gly1505Arg) c.2851G>C (p.Gly951Arg) | |
X | g.108687682G= | CA2450719250 | COL4A5 | c.4516G= (p.Gly1506=) c.4498G= (p.Gly1500=) n.1010G= c.312G= c.4507G= (p.Gly1503=) c.4192G= (p.Gly1398=) c.2089G= (p.Gly697=) c.4531G= (p.Gly1511=) c.4522G= (p.Gly1508=) c.4513G= (p.Gly1505=) c.2851G= (p.Gly951=) | |
X | g.108687682G>T | CA10489364 | COL4A5 | c.4516G>T (p.Gly1506Cys) c.4498G>T (p.Gly1500Cys) n.1010G>T c.312G>T c.4507G>T (p.Gly1503Cys) c.4192G>T (p.Gly1398Cys) c.2089G>T (p.Gly697Cys) c.4531G>T (p.Gly1511Cys) c.4522G>T (p.Gly1508Cys) c.4513G>T (p.Gly1505Cys) c.2851G>T (p.Gly951Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108687683G>A | CA413854799 | COL4A5 | c.4517G>A (p.Gly1506Asp) c.4499G>A (p.Gly1500Asp) n.1011G>A c.313G>A c.4508G>A (p.Gly1503Asp) c.4193G>A (p.Gly1398Asp) c.2090G>A (p.Gly697Asp) c.4532G>A (p.Gly1511Asp) c.4523G>A (p.Gly1508Asp) c.4514G>A (p.Gly1505Asp) c.2852G>A (p.Gly951Asp) | |
X | g.108687683G>C | CA413854801 | COL4A5 | c.4517G>C (p.Gly1506Ala) c.4499G>C (p.Gly1500Ala) n.1011G>C c.313G>C c.4508G>C (p.Gly1503Ala) c.4193G>C (p.Gly1398Ala) c.2090G>C (p.Gly697Ala) c.4532G>C (p.Gly1511Ala) c.4523G>C (p.Gly1508Ala) c.4514G>C (p.Gly1505Ala) c.2852G>C (p.Gly951Ala) | |
X | g.108687683G= | CA2450719254 | COL4A5 | c.4517G= (p.Gly1506=) c.4499G= (p.Gly1500=) n.1011G= c.313G= c.4508G= (p.Gly1503=) c.4193G= (p.Gly1398=) c.2090G= (p.Gly697=) c.4532G= (p.Gly1511=) c.4523G= (p.Gly1508=) c.4514G= (p.Gly1505=) c.2852G= (p.Gly951=) | |
X | g.108687683G>T | CA10489365 | COL4A5 | c.4517G>T (p.Gly1506Val) c.4499G>T (p.Gly1500Val) n.1011G>T c.313G>T c.4508G>T (p.Gly1503Val) c.4193G>T (p.Gly1398Val) c.2090G>T (p.Gly697Val) c.4532G>T (p.Gly1511Val) c.4523G>T (p.Gly1508Val) c.4514G>T (p.Gly1505Val) c.2852G>T (p.Gly951Val) | dbSNP ExAC gnomAD v2 |
X | g.108687684T>A | CA517924695 | COL4A5 | c.4518T>A (p.Gly1506=) c.4500T>A (p.Gly1500=) n.1012T>A c.314T>A c.4509T>A (p.Gly1503=) c.4194T>A (p.Gly1398=) c.2091T>A (p.Gly697=) c.4533T>A (p.Gly1511=) c.4524T>A (p.Gly1508=) c.4515T>A (p.Gly1505=) c.2853T>A (p.Gly951=) | |
X | g.108687684T>C | CA517924696 | COL4A5 | c.4518T>C (p.Gly1506=) c.4500T>C (p.Gly1500=) n.1012T>C c.314T>C c.4509T>C (p.Gly1503=) c.4194T>C (p.Gly1398=) c.2091T>C (p.Gly697=) c.4533T>C (p.Gly1511=) c.4524T>C (p.Gly1508=) c.4515T>C (p.Gly1505=) c.2853T>C (p.Gly951=) | |
X | g.108687684T>G | CA517924697 | COL4A5 | c.4518T>G (p.Gly1506=) c.4500T>G (p.Gly1500=) n.1012T>G c.314T>G c.4509T>G (p.Gly1503=) c.4194T>G (p.Gly1398=) c.2091T>G (p.Gly697=) c.4533T>G (p.Gly1511=) c.4524T>G (p.Gly1508=) c.4515T>G (p.Gly1505=) c.2853T>G (p.Gly951=) | |
X | g.108687685C>A | CA413854804 | COL4A5 | c.4519C>A (p.Gln1507Lys) c.4501C>A (p.Gln1501Lys) n.1013C>A c.315C>A c.4510C>A (p.Gln1504Lys) c.4195C>A (p.Gln1399Lys) c.2092C>A (p.Gln698Lys) c.4534C>A (p.Gln1512Lys) c.4525C>A (p.Gln1509Lys) c.4516C>A (p.Gln1506Lys) c.2854C>A (p.Gln952Lys) | gnomAD v4 |
X | g.108687685C= | CA2450719256 | COL4A5 | c.4519C= (p.Gln1507=) c.4501C= (p.Gln1501=) n.1013C= c.315C= c.4510C= (p.Gln1504=) c.4195C= (p.Gln1399=) c.2092C= (p.Gln698=) c.4534C= (p.Gln1512=) c.4525C= (p.Gln1509=) c.4516C= (p.Gln1506=) c.2854C= (p.Gln952=) | |
X | g.108687685C>G | CA413854806 | COL4A5 | c.4519C>G (p.Gln1507Glu) c.4501C>G (p.Gln1501Glu) n.1013C>G c.315C>G c.4510C>G (p.Gln1504Glu) c.4195C>G (p.Gln1399Glu) c.2092C>G (p.Gln698Glu) c.4534C>G (p.Gln1512Glu) c.4525C>G (p.Gln1509Glu) c.4516C>G (p.Gln1506Glu) c.2854C>G (p.Gln952Glu) | gnomAD v4 |
X | g.108687685C>T | CA259057 | COL4A5 | c.4519C>T (p.Gln1507Ter) c.4501C>T (p.Gln1501Ter) n.1013C>T c.315C>T c.4510C>T (p.Gln1504Ter) c.4195C>T (p.Gln1399Ter) c.2092C>T (p.Gln698Ter) c.4534C>T (p.Gln1512Ter) c.4525C>T (p.Gln1509Ter) c.4516C>T (p.Gln1506Ter) c.2854C>T (p.Gln952Ter) | dbSNP |
X | g.108687686A>C | CA413854811 | COL4A5 | c.4520A>C (p.Gln1507Pro) c.4502A>C (p.Gln1501Pro) n.1014A>C c.316A>C c.4511A>C (p.Gln1504Pro) c.4196A>C (p.Gln1399Pro) c.2093A>C (p.Gln698Pro) c.4535A>C (p.Gln1512Pro) c.4526A>C (p.Gln1509Pro) c.4517A>C (p.Gln1506Pro) c.2855A>C (p.Gln952Pro) | |
X | g.108687686A>G | CA413854809 | COL4A5 | c.4520A>G (p.Gln1507Arg) c.4502A>G (p.Gln1501Arg) n.1014A>G c.316A>G c.4511A>G (p.Gln1504Arg) c.4196A>G (p.Gln1399Arg) c.2093A>G (p.Gln698Arg) c.4535A>G (p.Gln1512Arg) c.4526A>G (p.Gln1509Arg) c.4517A>G (p.Gln1506Arg) c.2855A>G (p.Gln952Arg) | |
X | g.108687686A>T | CA413854810 | COL4A5 | c.4520A>T (p.Gln1507Leu) c.4502A>T (p.Gln1501Leu) n.1014A>T c.316A>T c.4511A>T (p.Gln1504Leu) c.4196A>T (p.Gln1399Leu) c.2093A>T (p.Gln698Leu) c.4535A>T (p.Gln1512Leu) c.4526A>T (p.Gln1509Leu) c.4517A>T (p.Gln1506Leu) c.2855A>T (p.Gln952Leu) | |
X | g.108687687A>C | CA413854812 | COL4A5 | c.4521A>C (p.Gln1507His) c.4503A>C (p.Gln1501His) n.1015A>C c.317A>C c.4512A>C (p.Gln1504His) c.4197A>C (p.Gln1399His) c.2094A>C (p.Gln698His) c.4536A>C (p.Gln1512His) c.4527A>C (p.Gln1509His) c.4518A>C (p.Gln1506His) c.2856A>C (p.Gln952His) | |
X | g.108687687A>G | CA517924699 | COL4A5 | c.4521A>G (p.Gln1507=) c.4503A>G (p.Gln1501=) n.1015A>G c.317A>G c.4512A>G (p.Gln1504=) c.4197A>G (p.Gln1399=) c.2094A>G (p.Gln698=) c.4536A>G (p.Gln1512=) c.4527A>G (p.Gln1509=) c.4518A>G (p.Gln1506=) c.2856A>G (p.Gln952=) | |
X | g.108687687A>T | CA413854813 | COL4A5 | c.4521A>T (p.Gln1507His) c.4503A>T (p.Gln1501His) n.1015A>T c.317A>T c.4512A>T (p.Gln1504His) c.4197A>T (p.Gln1399His) c.2094A>T (p.Gln698His) c.4536A>T (p.Gln1512His) c.4527A>T (p.Gln1509His) c.4518A>T (p.Gln1506His) c.2856A>T (p.Gln952His) |