Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108687578C>ACA413854242COL4A5c.4412C>A (p.Thr1471Lys)
c.4394C>A (p.Thr1465Lys)
n.906C>A
c.208C>A
c.4403C>A (p.Thr1468Lys)
c.4088C>A (p.Thr1363Lys)
c.1985C>A (p.Thr662Lys)
c.4427C>A (p.Thr1476Lys)
c.4418C>A (p.Thr1473Lys)
c.4409C>A (p.Thr1470Lys)
c.2747C>A (p.Thr916Lys)
Xg.108687578C>GCA413854243COL4A5c.4412C>G (p.Thr1471Arg)
c.4394C>G (p.Thr1465Arg)
n.906C>G
c.208C>G
c.4403C>G (p.Thr1468Arg)
c.4088C>G (p.Thr1363Arg)
c.1985C>G (p.Thr662Arg)
c.4427C>G (p.Thr1476Arg)
c.4418C>G (p.Thr1473Arg)
c.4409C>G (p.Thr1470Arg)
c.2747C>G (p.Thr916Arg)
Xg.108687578C>TCA413854244COL4A5c.4412C>T (p.Thr1471Ile)
c.4394C>T (p.Thr1465Ile)
n.906C>T
c.208C>T
c.4403C>T (p.Thr1468Ile)
c.4088C>T (p.Thr1363Ile)
c.1985C>T (p.Thr662Ile)
c.4427C>T (p.Thr1476Ile)
c.4418C>T (p.Thr1473Ile)
c.4409C>T (p.Thr1470Ile)
c.2747C>T (p.Thr916Ile)
Xg.108687579A>CCA517924562COL4A5c.4413A>C (p.Thr1471=)
c.4395A>C (p.Thr1465=)
n.907A>C
c.209A>C
c.4404A>C (p.Thr1468=)
c.4089A>C (p.Thr1363=)
c.1986A>C (p.Thr662=)
c.4428A>C (p.Thr1476=)
c.4419A>C (p.Thr1473=)
c.4410A>C (p.Thr1470=)
c.2748A>C (p.Thr916=)
 gnomAD v4
Xg.108687579A>GCA517924563COL4A5c.4413A>G (p.Thr1471=)
c.4395A>G (p.Thr1465=)
n.907A>G
c.209A>G
c.4404A>G (p.Thr1468=)
c.4089A>G (p.Thr1363=)
c.1986A>G (p.Thr662=)
c.4428A>G (p.Thr1476=)
c.4419A>G (p.Thr1473=)
c.4410A>G (p.Thr1470=)
c.2748A>G (p.Thr916=)
 gnomAD v4
Xg.108687579A>TCA517924564COL4A5c.4413A>T (p.Thr1471=)
c.4395A>T (p.Thr1465=)
n.907A>T
c.209A>T
c.4404A>T (p.Thr1468=)
c.4089A>T (p.Thr1363=)
c.1986A>T (p.Thr662=)
c.4428A>T (p.Thr1476=)
c.4419A>T (p.Thr1473=)
c.4410A>T (p.Thr1470=)
c.2748A>T (p.Thr916=)
Xg.108687580C>ACA413854247COL4A5c.4414C>A (p.Arg1472Ser)
c.4396C>A (p.Arg1466Ser)
n.908C>A
c.210C>A
c.4405C>A (p.Arg1469Ser)
c.4090C>A (p.Arg1364Ser)
c.1987C>A (p.Arg663Ser)
c.4429C>A (p.Arg1477Ser)
c.4420C>A (p.Arg1474Ser)
c.4411C>A (p.Arg1471Ser)
c.2749C>A (p.Arg917Ser)
Xg.108687580C=CA2450719086COL4A5c.4414C= (p.Arg1472=)
c.4396C= (p.Arg1466=)
n.908C=
c.210C=
c.4405C= (p.Arg1469=)
c.4090C= (p.Arg1364=)
c.1987C= (p.Arg663=)
c.4429C= (p.Arg1477=)
c.4420C= (p.Arg1474=)
c.4411C= (p.Arg1471=)
c.2749C= (p.Arg917=)
Xg.108687580C>GCA413854249COL4A5c.4414C>G (p.Arg1472Gly)
c.4396C>G (p.Arg1466Gly)
n.908C>G
c.210C>G
c.4405C>G (p.Arg1469Gly)
c.4090C>G (p.Arg1364Gly)
c.1987C>G (p.Arg663Gly)
c.4429C>G (p.Arg1477Gly)
c.4420C>G (p.Arg1474Gly)
c.4411C>G (p.Arg1471Gly)
c.2749C>G (p.Arg917Gly)
Xg.108687580C>TCA10489349COL4A5c.4414C>T (p.Arg1472Cys)
c.4396C>T (p.Arg1466Cys)
n.908C>T
c.210C>T
c.4405C>T (p.Arg1469Cys)
c.4090C>T (p.Arg1364Cys)
c.1987C>T (p.Arg663Cys)
c.4429C>T (p.Arg1477Cys)
c.4420C>T (p.Arg1474Cys)
c.4411C>T (p.Arg1471Cys)
c.2749C>T (p.Arg917Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.108687581G>ACA413854253COL4A5c.4415G>A (p.Arg1472His)
c.4397G>A (p.Arg1466His)
n.909G>A
c.211G>A
c.4406G>A (p.Arg1469His)
c.4091G>A (p.Arg1364His)
c.1988G>A (p.Arg663His)
c.4430G>A (p.Arg1477His)
c.4421G>A (p.Arg1474His)
c.4412G>A (p.Arg1471His)
c.2750G>A (p.Arg917His)
 dbSNP gnomAD v4
Xg.108687581G>CCA413854255COL4A5c.4415G>C (p.Arg1472Pro)
c.4397G>C (p.Arg1466Pro)
n.909G>C
c.211G>C
c.4406G>C (p.Arg1469Pro)
c.4091G>C (p.Arg1364Pro)
c.1988G>C (p.Arg663Pro)
c.4430G>C (p.Arg1477Pro)
c.4421G>C (p.Arg1474Pro)
c.4412G>C (p.Arg1471Pro)
c.2750G>C (p.Arg917Pro)
Xg.108687581G=CA2450719091COL4A5c.4415G= (p.Arg1472=)
c.4397G= (p.Arg1466=)
n.909G=
c.211G=
c.4406G= (p.Arg1469=)
c.4091G= (p.Arg1364=)
c.1988G= (p.Arg663=)
c.4430G= (p.Arg1477=)
c.4421G= (p.Arg1474=)
c.4412G= (p.Arg1471=)
c.2750G= (p.Arg917=)
Xg.108687581G>TCA413854257COL4A5c.4415G>T (p.Arg1472Leu)
c.4397G>T (p.Arg1466Leu)
n.909G>T
c.211G>T
c.4406G>T (p.Arg1469Leu)
c.4091G>T (p.Arg1364Leu)
c.1988G>T (p.Arg663Leu)
c.4430G>T (p.Arg1477Leu)
c.4421G>T (p.Arg1474Leu)
c.4412G>T (p.Arg1471Leu)
c.2750G>T (p.Arg917Leu)
Xg.108687581_108687582delinsCTCA2573159110COL4A5c.4415_4416delinsCT (p.Arg1472Pro)
c.4397_4398delinsCT (p.Arg1466Pro)
n.909_910delinsCT
c.211_212delinsCT
c.4406_4407delinsCT (p.Arg1469Pro)
c.4091_4092delinsCT (p.Arg1364Pro)
c.1988_1989delinsCT (p.Arg663Pro)
c.4430_4431delinsCT (p.Arg1477Pro)
c.4421_4422delinsCT (p.Arg1474Pro)
c.4412_4413delinsCT (p.Arg1471Pro)
c.2750_2751delinsCT (p.Arg917Pro)
 ClinVar dbSNP
Xg.108687582C>ACA517924569COL4A5c.4416C>A (p.Arg1472=)
c.4398C>A (p.Arg1466=)
n.910C>A
c.212C>A
c.4407C>A (p.Arg1469=)
c.4092C>A (p.Arg1364=)
c.1989C>A (p.Arg663=)
c.4431C>A (p.Arg1477=)
c.4422C>A (p.Arg1474=)
c.4413C>A (p.Arg1471=)
c.2751C>A (p.Arg917=)
 gnomAD v4
Xg.108687582C=CA2450719104COL4A5c.4416C= (p.Arg1472=)
c.4398C= (p.Arg1466=)
n.910C=
c.212C=
c.4407C= (p.Arg1469=)
c.4092C= (p.Arg1364=)
c.1989C= (p.Arg663=)
c.4431C= (p.Arg1477=)
c.4422C= (p.Arg1474=)
c.4413C= (p.Arg1471=)
c.2751C= (p.Arg917=)
Xg.108687582C>GCA517924570COL4A5c.4416C>G (p.Arg1472=)
c.4398C>G (p.Arg1466=)
n.910C>G
c.212C>G
c.4407C>G (p.Arg1469=)
c.4092C>G (p.Arg1364=)
c.1989C>G (p.Arg663=)
c.4431C>G (p.Arg1477=)
c.4422C>G (p.Arg1474=)
c.4413C>G (p.Arg1471=)
c.2751C>G (p.Arg917=)
Xg.108687582C>TCA517924568COL4A5c.4416C>T (p.Arg1472=)
c.4398C>T (p.Arg1466=)
n.910C>T
c.212C>T
c.4407C>T (p.Arg1469=)
c.4092C>T (p.Arg1364=)
c.1989C>T (p.Arg663=)
c.4431C>T (p.Arg1477=)
c.4422C>T (p.Arg1474=)
c.4413C>T (p.Arg1471=)
c.2751C>T (p.Arg917=)
Xg.108687583C>ACA413854259COL4A5c.4417C>A (p.His1473Asn)
c.4399C>A (p.His1467Asn)
n.911C>A
c.213C>A
c.4408C>A (p.His1470Asn)
c.4093C>A (p.His1365Asn)
c.1990C>A (p.His664Asn)
c.4432C>A (p.His1478Asn)
c.4423C>A (p.His1475Asn)
c.4414C>A (p.His1472Asn)
c.2752C>A (p.His918Asn)
Xg.108687583C>GCA413854269COL4A5c.4417C>G (p.His1473Asp)
c.4399C>G (p.His1467Asp)
n.911C>G
c.213C>G
c.4408C>G (p.His1470Asp)
c.4093C>G (p.His1365Asp)
c.1990C>G (p.His664Asp)
c.4432C>G (p.His1478Asp)
c.4423C>G (p.His1475Asp)
c.4414C>G (p.His1472Asp)
c.2752C>G (p.His918Asp)
Xg.108687583C>TCA413854265COL4A5c.4417C>T (p.His1473Tyr)
c.4399C>T (p.His1467Tyr)
n.911C>T
c.213C>T
c.4408C>T (p.His1470Tyr)
c.4093C>T (p.His1365Tyr)
c.1990C>T (p.His664Tyr)
c.4432C>T (p.His1478Tyr)
c.4423C>T (p.His1475Tyr)
c.4414C>T (p.His1472Tyr)
c.2752C>T (p.His918Tyr)
 ClinVar
Xg.108687585_108687586dupCA891843689COL4A5c.4419_4420dup (p.Ser1474ThrfsTer?)
c.4401_4402dup (p.Ser1468ThrfsTer?)
n.913_914dup
c.215_216dup
c.4410_4411dup (p.Ser1471ThrfsTer?)
c.4095_4096dup (p.Ser1366ThrfsTer?)
c.1992_1993dup (p.Ser665ThrfsTer?)
c.4434_4435dup (p.Ser1479ThrfsTer?)
c.4425_4426dup (p.Ser1476ThrfsTer?)
c.4416_4417dup (p.Ser1473ThrfsTer?)
c.2754_2755dup (p.Ser919ThrfsTer?)
Xg.108687584A>CCA413854271COL4A5c.4418A>C (p.His1473Pro)
c.4400A>C (p.His1467Pro)
n.912A>C
c.214A>C
c.4409A>C (p.His1470Pro)
c.4094A>C (p.His1365Pro)
c.1991A>C (p.His664Pro)
c.4433A>C (p.His1478Pro)
c.4424A>C (p.His1475Pro)
c.4415A>C (p.His1472Pro)
c.2753A>C (p.His918Pro)
Xg.108687584A>GCA413854273COL4A5c.4418A>G (p.His1473Arg)
c.4400A>G (p.His1467Arg)
n.912A>G
c.214A>G
c.4409A>G (p.His1470Arg)
c.4094A>G (p.His1365Arg)
c.1991A>G (p.His664Arg)
c.4433A>G (p.His1478Arg)
c.4424A>G (p.His1475Arg)
c.4415A>G (p.His1472Arg)
c.2753A>G (p.His918Arg)
Xg.108687584A>TCA413854274COL4A5c.4418A>T (p.His1473Leu)
c.4400A>T (p.His1467Leu)
n.912A>T
c.214A>T
c.4409A>T (p.His1470Leu)
c.4094A>T (p.His1365Leu)
c.1991A>T (p.His664Leu)
c.4433A>T (p.His1478Leu)
c.4424A>T (p.His1475Leu)
c.4415A>T (p.His1472Leu)
c.2753A>T (p.His918Leu)
Xg.108687585C>ACA413854275COL4A5c.4419C>A (p.His1473Gln)
c.4401C>A (p.His1467Gln)
n.913C>A
c.215C>A
c.4410C>A (p.His1470Gln)
c.4095C>A (p.His1365Gln)
c.1992C>A (p.His664Gln)
c.4434C>A (p.His1478Gln)
c.4425C>A (p.His1475Gln)
c.4416C>A (p.His1472Gln)
c.2754C>A (p.His918Gln)
Xg.108687585C>GCA413854276COL4A5c.4419C>G (p.His1473Gln)
c.4401C>G (p.His1467Gln)
n.913C>G
c.215C>G
c.4410C>G (p.His1470Gln)
c.4095C>G (p.His1365Gln)
c.1992C>G (p.His664Gln)
c.4434C>G (p.His1478Gln)
c.4425C>G (p.His1475Gln)
c.4416C>G (p.His1472Gln)
c.2754C>G (p.His918Gln)
Xg.108687585C>TCA517924573COL4A5c.4419C>T (p.His1473=)
c.4401C>T (p.His1467=)
n.913C>T
c.215C>T
c.4410C>T (p.His1470=)
c.4095C>T (p.His1365=)
c.1992C>T (p.His664=)
c.4434C>T (p.His1478=)
c.4425C>T (p.His1475=)
c.4416C>T (p.His1472=)
c.2754C>T (p.His918=)
Xg.108687586A>CCA413854278COL4A5c.4420A>C (p.Ser1474Arg)
c.4402A>C (p.Ser1468Arg)
n.914A>C
c.216A>C
c.4411A>C (p.Ser1471Arg)
c.4096A>C (p.Ser1366Arg)
c.1993A>C (p.Ser665Arg)
c.4435A>C (p.Ser1479Arg)
c.4426A>C (p.Ser1476Arg)
c.4417A>C (p.Ser1473Arg)
c.2755A>C (p.Ser919Arg)
Xg.108687586A>GCA413854279COL4A5c.4420A>G (p.Ser1474Gly)
c.4402A>G (p.Ser1468Gly)
n.914A>G
c.216A>G
c.4411A>G (p.Ser1471Gly)
c.4096A>G (p.Ser1366Gly)
c.1993A>G (p.Ser665Gly)
c.4435A>G (p.Ser1479Gly)
c.4426A>G (p.Ser1476Gly)
c.4417A>G (p.Ser1473Gly)
c.2755A>G (p.Ser919Gly)
Xg.108687586A>TCA413854280COL4A5c.4420A>T (p.Ser1474Cys)
c.4402A>T (p.Ser1468Cys)
n.914A>T
c.216A>T
c.4411A>T (p.Ser1471Cys)
c.4096A>T (p.Ser1366Cys)
c.1993A>T (p.Ser665Cys)
c.4435A>T (p.Ser1479Cys)
c.4426A>T (p.Ser1476Cys)
c.4417A>T (p.Ser1473Cys)
c.2755A>T (p.Ser919Cys)
Xg.108687587G>ACA413854281COL4A5c.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)
Xg.108687587G>CCA413854282COL4A5c.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)
Xg.108687587G>TCA413854283COL4A5c.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)
Xg.108687588C>ACA413854285COL4A5c.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)
Xg.108687588C>GCA413854287COL4A5c.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)
Xg.108687588C>TCA517924575COL4A5c.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=)
Xg.108687589C>ACA413854290COL4A5c.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)
Xg.108687589C>GCA413854291COL4A5c.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)
Xg.108687589C>TCA413854293COL4A5c.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)
Xg.108687590A>CCA413854299COL4A5c.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)
Xg.108687590A>GCA413854300COL4A5c.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)
Xg.108687590A>TCA413854306COL4A5c.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
Xg.108687591G>ACA517924579COL4A5c.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=)
Xg.108687591G>CCA413854314COL4A5c.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)
Xg.108687591G>TCA413854308COL4A5c.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)
Xg.108687592A>CCA413854316COL4A5c.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
Xg.108687592A>GCA413854318COL4A5c.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)
Xg.108687592A>TCA413854321COL4A5c.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)
Xg.108687593C>ACA413854323COL4A5c.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
Xg.108687593C=CA2450719114COL4A5c.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=)
Xg.108687593C>GCA413854324COL4A5c.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
Xg.108687593C>TCA413854330COL4A5c.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
Xg.108687594A>CCA517924583COL4A5c.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=)
Xg.108687594A>GCA517924584COL4A5c.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=)
Xg.108687594A>TCA517924585COL4A5c.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=)
Xg.108687595A>CCA413854335COL4A5c.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)
Xg.108687595A>GCA413854333COL4A5c.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)
Xg.108687595A>TCA413854334COL4A5c.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)
Xg.108687596C>ACA413854336COL4A5c.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
Xg.108687596C=CA2450719117COL4A5c.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=)
Xg.108687596C>GCA334059132COL4A5c.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
Xg.108687596C>TCA10489350COL4A5c.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
Xg.108687597G>ACA10489352COL4A5c.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
Xg.108687597G>CCA10489351COL4A5c.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
Xg.108687597G=CA2450719125COL4A5c.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=)
Xg.108687597G>TCA517924587COL4A5c.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=)
Xg.108687598delCA2580100172COL4A5c.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
Xg.108687598G>ACA413854342COL4A5c.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
Xg.108687598G>CCA413854343COL4A5c.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)
Xg.108687598G=CA2450719130COL4A5c.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=)
Xg.108687598G>TCA413854344COL4A5c.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)
Xg.108687599A>CCA413854345COL4A5c.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)
Xg.108687599A>GCA413854346COL4A5c.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
Xg.108687599A>TCA413854347COL4A5c.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)
Xg.108687600T>ACA413854348COL4A5c.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)
Xg.108687600T>CCA517924591COL4A5c.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=)
Xg.108687600T>GCA413854349COL4A5c.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)
Xg.108687601G>ACA413854351COL4A5c.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)
Xg.108687601G>CCA413854357COL4A5c.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)
Xg.108687601G>TCA413854352COL4A5c.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)
Xg.108687602C>ACA413854359COL4A5c.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
Xg.108687602C=CA2450719133COL4A5c.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=)
Xg.108687602C>GCA413854370COL4A5c.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)
Xg.108687602C>TCA413854377COL4A5c.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
Xg.108687603A>CCA517924597COL4A5c.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=)
Xg.108687603A>GCA517924596COL4A5c.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=)
Xg.108687603A>TCA517924595COL4A5c.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=)
Xg.108687604C>ACA413854380COL4A5c.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)
Xg.108687604C=CA2450719138COL4A5c.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=)
Xg.108687604C>GCA413854383COL4A5c.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
Xg.108687604C>TCA413854384COL4A5c.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)
Xg.108687605delCA2695235237COL4A5c.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?)
Xg.108687605C>ACA413854387COL4A5c.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
Xg.108687605C=CA2450719142COL4A5c.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=)
Xg.108687605C>GCA413854388COL4A5c.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)
Xg.108687605C>TCA413854389COL4A5c.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
Xg.108687606A>CCA517924601COL4A5c.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=)
Xg.108687606A>GCA517924600COL4A5c.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=)
Xg.108687606A>TCA517924599COL4A5c.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=)
Xg.108687607delCA2499226311COL4A5c.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
Xg.108687607C>ACA413854393COL4A5c.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)
Xg.108687607C=CA2450719151COL4A5c.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=)
Xg.108687607C>GCA413854395COL4A5c.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)
Xg.108687607C>TCA413854399COL4A5c.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
Xg.108687608A>CCA413854413COL4A5c.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)
Xg.108687608A>GCA413854401COL4A5c.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)
Xg.108687608A>TCA413854404COL4A5c.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)
Xg.108687609A=CA2450719158COL4A5c.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=)
Xg.108687609A>CCA413854417COL4A5c.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)
Xg.108687609A>GCA10489353COL4A5c.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
Xg.108687609A>TCA413854424COL4A5c.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)
Xg.108687610T>ACA413854428COL4A5c.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)
Xg.108687610T>CCA413854431COL4A5c.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)
Xg.108687610T>GCA413854434COL4A5c.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)
Xg.108687611G>ACA413854437COL4A5c.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
Xg.108687611G>CCA413854438COL4A5c.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)
Xg.108687611G=CA2450719163COL4A5c.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=)
Xg.108687611G>TCA413854439COL4A5c.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)
Xg.108687612C>ACA413854440COL4A5c.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
Xg.108687612C>GCA413854441COL4A5c.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
Xg.108687612C>TCA517924607COL4A5c.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
Xg.108687613C>ACA413854448COL4A5c.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)
Xg.108687613C>GCA413854445COL4A5c.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)
Xg.108687613C>TCA413854443COL4A5c.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)
Xg.108687614C>ACA413854451COL4A5c.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)
Xg.108687614C>GCA413854456COL4A5c.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)
Xg.108687614C>TCA413854453COL4A5c.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)
Xg.108687614_108687615insCCAAACACACCCAACCA2822894484COL4A5c.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)
Xg.108687615A=CA2450719167COL4A5c.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=)
Xg.108687615A>CCA517924608COL4A5c.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
Xg.108687615A>GCA517924609COL4A5c.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
Xg.108687615A>TCA517924610COL4A5c.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=)
Xg.108687616C>ACA413854459COL4A5c.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)
Xg.108687616C>GCA413854463COL4A5c.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)
Xg.108687616C>TCA413854462COL4A5c.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)
Xg.108687617A=CA2450719172COL4A5c.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=)
Xg.108687617A>CCA10489354COL4A5c.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
Xg.108687617A>GCA413854470COL4A5c.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)
Xg.108687617A>TCA413854467COL4A5c.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)
Xg.108687618G>ACA517924611COL4A5c.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
Xg.108687618G>CCA413854473COL4A5c.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)
Xg.108687618G>TCA413854476COL4A5c.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)
Xg.108687620dupCA334059151COL4A5c.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
Xg.108687620delCA2580100174COL4A5c.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
Xg.108687619G>ACA413854479COL4A5c.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
Xg.108687619G>CCA413854482COL4A5c.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)
Xg.108687619G>TCA413854485COL4A5c.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)
Xg.108687619_108687621delinsGGACA2450719178COL4A5c.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=)
Xg.108687621_108687631delCA2740092259COL4A5c.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
Xg.108687620G>ACA413854488COL4A5c.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
Xg.108687620G>CCA413854493COL4A5c.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)
Xg.108687620G=CA2450719186COL4A5c.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=)
Xg.108687620G>TCA413854496COL4A5c.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)
Xg.108687620_108687621delCA259046COL4A5c.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
Xg.108687620_108687621delinsGACA2450719187COL4A5c.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=)
Xg.108687621A>CCA517924615COL4A5c.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=)
Xg.108687621A>GCA517924616COL4A5c.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=)
Xg.108687621A>TCA517924617COL4A5c.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=)
Xg.108687622delCA259047COL4A5c.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
Xg.108687622A=CA2450719195COL4A5c.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=)
Xg.108687622A>CCA413854509COL4A5c.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)
Xg.108687622A>GCA413854503COL4A5c.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
Xg.108687622A>TCA413854506COL4A5c.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)
Xg.108687623C>ACA413854512COL4A5c.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)
Xg.108687623C=CA2450719197COL4A5c.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=)
Xg.108687623C>GCA261102COL4A5c.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
Xg.108687623C>TCA413854516COL4A5c.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)
Xg.108687624A=CA2450719199COL4A5c.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=)
Xg.108687624A>CCA517924620COL4A5c.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=)
Xg.108687624A>GCA517924622COL4A5c.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
Xg.108687624A>TCA517924621COL4A5c.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=)
Xg.108687625C>ACA413854521COL4A5c.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)
Xg.108687625C>GCA413854523COL4A5c.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)
Xg.108687625C>TCA413854527COL4A5c.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
Xg.108687626T>ACA413854531COL4A5c.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)
Xg.108687626T>CCA413854534COL4A5c.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
Xg.108687626T>GCA413854537COL4A5c.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)
Xg.108687627T>ACA517924625COL4A5c.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=)
Xg.108687627T>CCA517924624COL4A5c.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=)
Xg.108687627T>GCA10489355COL4A5c.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
Xg.108687627T=CA2450719202COL4A5c.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=)
Xg.108687628C>ACA413854546COL4A5c.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)
Xg.108687628C>GCA413854549COL4A5c.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)
Xg.108687628C>TCA413854542COL4A5c.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
Xg.108687629A>CCA413854552COL4A5c.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
Xg.108687629A>GCA413854554COL4A5c.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)
Xg.108687629A>TCA413854555COL4A5c.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)
Xg.108687630G>ACA517924629COL4A5c.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
Xg.108687630G>CCA413854557COL4A5c.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)
Xg.108687630G>TCA413854559COL4A5c.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)
Xg.108687631G>ACA413854560COL4A5c.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
Xg.108687631G>CCA413854562COL4A5c.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)
Xg.108687631G=CA2450719205COL4A5c.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=)
Xg.108687631G>TCA10489356COL4A5c.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
Xg.108687632T>ACA413854565COL4A5c.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)
Xg.108687632T>CCA413854567COL4A5c.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)
Xg.108687632T>GCA413854569COL4A5c.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)
Xg.108687633C>ACA517924633COL4A5c.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=)
Xg.108687633C>GCA517924634COL4A5c.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=)
Xg.108687633C>TCA517924635COL4A5c.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=)
Xg.108687634T>ACA413854573COL4A5c.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)
Xg.108687634T>CCA413854575COL4A5c.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
Xg.108687634T>GCA413854571COL4A5c.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)
Xg.108687635A=CA2450719208COL4A5c.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=)
Xg.108687635A>CCA413854577COL4A5c.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
Xg.108687635A>GCA10489357COL4A5c.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
Xg.108687635A>TCA413854580COL4A5c.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
Xg.108687636T>ACA413854582COL4A5c.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)
Xg.108687636T>CCA517924637COL4A5c.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=)
Xg.108687636T>GCA413854584COL4A5c.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
Xg.108687636T=CA2450719210COL4A5c.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=)
Xg.108687637G>ACA413854590COL4A5c.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)
Xg.108687637G>CCA413854586COL4A5c.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)
Xg.108687637G>TCA413854588COL4A5c.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)
Xg.108687638A>CCA413854592COL4A5c.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)
Xg.108687638A>GCA413854594COL4A5c.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
Xg.108687638A>TCA413854597COL4A5c.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)
Xg.108687639A=CA2450719212COL4A5c.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=)
Xg.108687639A>CCA413854598COL4A5c.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)
Xg.108687639A>GCA517924638COL4A5c.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
Xg.108687639A>TCA413854600COL4A5c.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
Xg.108687640G>ACA413854605COL4A5c.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
Xg.108687640G>CCA413854604COL4A5c.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)
Xg.108687640G>TCA413854602COL4A5c.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)
Xg.108687641G>ACA413854607COL4A5c.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)
Xg.108687641G>CCA259048COL4A5c.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
Xg.108687641G=CA2450719219COL4A5c.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=)
Xg.108687641G>TCA413854609COL4A5c.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
Xg.108687642C>ACA517924641COL4A5c.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=)
Xg.108687642C=CA2450719221COL4A5c.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=)
Xg.108687642C>GCA517924643COL4A5c.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=)
Xg.108687642C>TCA10489358COL4A5c.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
Xg.108687643T>ACA413854613COL4A5c.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)
Xg.108687643T>CCA413854614COL4A5c.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)
Xg.108687643T>GCA413854616COL4A5c.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)
Xg.108687646delCA2695235238COL4A5c.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?)
Xg.108687644T>ACA413854622COL4A5c.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)
Xg.108687644T>CCA413854619COL4A5c.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)
Xg.108687644T>GCA413854621COL4A5c.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)
Xg.108687645T>ACA413854624COL4A5c.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)
Xg.108687645T>CCA517924645COL4A5c.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
Xg.108687645T>GCA413854627COL4A5c.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)
Xg.108687645T=CA2450719223COL4A5c.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=)
Xg.108687646T>ACA413854629COL4A5c.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)
Xg.108687646T>CCA413854631COL4A5c.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)
Xg.108687646T>GCA413854633COL4A5c.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)
Xg.108687647C>ACA413854635COL4A5c.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)
Xg.108687647C=CA2450719226COL4A5c.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=)
Xg.108687647C>GCA413854637COL4A5c.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)
Xg.108687647C>TCA259050COL4A5c.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
Xg.108687648T>ACA517924647COL4A5c.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
Xg.108687648T>CCA517924648COL4A5c.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=)
Xg.108687648T>GCA517924649COL4A5c.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=)
Xg.108687649C>ACA413854639COL4A5c.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)
Xg.108687649C=CA2450719229COL4A5c.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=)
Xg.108687649C>GCA413854641COL4A5c.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)
Xg.108687649C>TCA413854643COL4A5c.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
Xg.108687650T>ACA413854645COL4A5c.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)
Xg.108687650T>CCA413854647COL4A5c.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)
Xg.108687650T>GCA413854649COL4A5c.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)
Xg.108687651C>ACA10489359COL4A5c.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
Xg.108687651C=CA2450719230COL4A5c.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=)
Xg.108687651C>GCA517924652COL4A5c.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=)
Xg.108687651C>TCA517924651COL4A5c.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
Xg.108687652C>ACA413854652COL4A5c.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)
Xg.108687652C>GCA413854654COL4A5c.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)
Xg.108687652C>TCA517924654COL4A5c.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
Xg.108687653T>ACA413854657COL4A5c.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)
Xg.108687653T>CCA413854658COL4A5c.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)
Xg.108687653T>GCA413854660COL4A5c.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)
Xg.108687654G>ACA517924655COL4A5c.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
Xg.108687654G>CCA517924657COL4A5c.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=)
Xg.108687654G>TCA517924658COL4A5c.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=)
Xg.108687655T>ACA413854663COL4A5c.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)
Xg.108687655T>CCA413854667COL4A5c.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
Xg.108687655T>GCA413854664COL4A5c.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)
Xg.108687656A>CCA413854669COL4A5c.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)
Xg.108687656A>GCA413854671COL4A5c.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
Xg.108687656A>TCA413854673COL4A5c.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)
Xg.108687657T>ACA413854675COL4A5c.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)
Xg.108687657T>CCA517924660COL4A5c.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
Xg.108687657T>GCA413854677COL4A5c.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)
Xg.108687658G>ACA413854680COL4A5c.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)
Xg.108687658G>CCA413854682COL4A5c.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)
Xg.108687658G>TCA413854684COL4A5c.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)
Xg.108687659T>ACA413854686COL4A5c.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)
Xg.108687659T>CCA413854689COL4A5c.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)
Xg.108687659T>GCA413854691COL4A5c.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)
Xg.108687660A>CCA517924666COL4A5c.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=)
Xg.108687660A>GCA517924664COL4A5c.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=)
Xg.108687660A>TCA517924665COL4A5c.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=)
Xg.108687661C>ACA413854697COL4A5c.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)
Xg.108687661C>GCA413854695COL4A5c.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)
Xg.108687661C>TCA413854693COL4A5c.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)
Xg.108687662A=CA2450719231COL4A5c.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=)
Xg.108687662A>CCA413854699COL4A5c.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)
Xg.108687662A>GCA413854701COL4A5c.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
Xg.108687662A>TCA10489360COL4A5c.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
Xg.108687663A>CCA413854704COL4A5c.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
Xg.108687663A>GCA517924669COL4A5c.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=)
Xg.108687663A>TCA413854705COL4A5c.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)
Xg.108687664G>ACA413854707COL4A5c.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)
Xg.108687664G>CCA413854709COL4A5c.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)
Xg.108687664G>TCA413854711COL4A5c.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)
Xg.108687665G>ACA334059231COL4A5c.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
Xg.108687665G>CCA413854714COL4A5c.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)
Xg.108687665G=CA2450719232COL4A5c.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=)
Xg.108687665G>TCA413854716COL4A5c.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)
Xg.108687666A=CA2450719233COL4A5c.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=)
Xg.108687666A>CCA517924674COL4A5c.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=)
Xg.108687666A>GCA10489361COL4A5c.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
Xg.108687666A>TCA517924673COL4A5c.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=)
Xg.108687667A>CCA413854722COL4A5c.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)
Xg.108687667A>GCA413854720COL4A5c.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)
Xg.108687667A>TCA413854718COL4A5c.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)
Xg.108687668A>CCA413854723COL4A5c.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)
Xg.108687668A>GCA413854728COL4A5c.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)
Xg.108687668A>TCA413854726COL4A5c.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)
Xg.108687669T>ACA413854731COL4A5c.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)
Xg.108687669T>CCA517924678COL4A5c.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
Xg.108687669T>GCA413854733COL4A5c.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)
Xg.108687669_108687671delinsTAACA2450719236COL4A5c.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=)
Xg.108687670A>CCA413854736COL4A5c.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)
Xg.108687670A>GCA413854737COL4A5c.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
Xg.108687670A>TCA413854739COL4A5c.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
Xg.108687673delCA2580100177COL4A5c.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
Xg.108687672_108687673delCA915951312COL4A5c.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
Xg.108687671A=CA2450719239COL4A5c.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=)
Xg.108687671A>CCA413854741COL4A5c.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)
Xg.108687671A>GCA413854742COL4A5c.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
Xg.108687671A>TCA413854744COL4A5c.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)
Xg.108687672A>CCA413854746COL4A5c.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)
Xg.108687672A>GCA517924682COL4A5c.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=)
Xg.108687672A>TCA413854748COL4A5c.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)
Xg.108687672_108687674delinsAAGCA2450719240COL4A5c.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=)
Xg.108687676_108687689delCA2695235239COL4A5c.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)
Xg.108687673A>CCA517924683COL4A5c.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=)
Xg.108687673A>GCA413854750COL4A5c.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)
Xg.108687673A>TCA413854752COL4A5c.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)
Xg.108687675_108687676delCA259052COL4A5c.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
Xg.108687674delCA2739290547COL4A5c.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?)
Xg.108687674G>ACA413854754COL4A5c.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)
Xg.108687674G>CCA413854756COL4A5c.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
Xg.108687674G>TCA413854758COL4A5c.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)
Xg.108687675A>CCA413854760COL4A5c.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)
Xg.108687675A>GCA517924687COL4A5c.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=)
Xg.108687675A>TCA413854762COL4A5c.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)
Xg.108687676delCA2695235240COL4A5c.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?)
Xg.108687676G>ACA413854764COL4A5c.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)
Xg.108687676G>CCA413854766COL4A5c.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)
Xg.108687676G>TCA413854768COL4A5c.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)
Xg.108687677C>ACA259055COL4A5c.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
Xg.108687677C=CA2450719243COL4A5c.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=)
Xg.108687677C>GCA413854772COL4A5c.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)
Xg.108687677C>TCA413854774COL4A5c.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)
Xg.108687678C>ACA517924688COL4A5c.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=)
Xg.108687678C=CA2450719246COL4A5c.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=)
Xg.108687678C>GCA517924689COL4A5c.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=)
Xg.108687678C>TCA517924690COL4A5c.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

Number of alleles fetched