Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108695279G>ACA414132664COL4A5c.4834G>A (p.Gly1612Arg)
c.4816G>A (p.Gly1606Arg)
n.1328G>A
n.1665G>A
c.219+358G>A (n.219+358G>A)
c.325-1018G>A
c.4825G>A (p.Gly1609Arg)
c.4510G>A (p.Gly1504Arg)
c.2407G>A (p.Gly803Arg)
c.4849G>A (p.Gly1617Arg)
c.4840G>A (p.Gly1614Arg)
c.4831G>A (p.Gly1611Arg)
c.3169G>A (p.Gly1057Arg)
 dbSNP
Xg.108695279G>CCA414132666COL4A5c.4834G>C (p.Gly1612Arg)
c.4816G>C (p.Gly1606Arg)
n.1328G>C
n.1665G>C
c.219+358G>C (n.219+358G>C)
c.325-1018G>C
c.4825G>C (p.Gly1609Arg)
c.4510G>C (p.Gly1504Arg)
c.2407G>C (p.Gly803Arg)
c.4849G>C (p.Gly1617Arg)
c.4840G>C (p.Gly1614Arg)
c.4831G>C (p.Gly1611Arg)
c.3169G>C (p.Gly1057Arg)
Xg.108695279G=CA2450721727COL4A5c.4834G= (p.Gly1612=)
c.4816G= (p.Gly1606=)
n.1328G=
n.1665G=
c.219+358G= (n.219+358G=)
c.325-1018G=
c.4825G= (p.Gly1609=)
c.4510G= (p.Gly1504=)
c.2407G= (p.Gly803=)
c.4849G= (p.Gly1617=)
c.4840G= (p.Gly1614=)
c.4831G= (p.Gly1611=)
c.3169G= (p.Gly1057=)
Xg.108695279G>TCA414132665COL4A5c.4834G>T (p.Gly1612Trp)
c.4816G>T (p.Gly1606Trp)
n.1328G>T
n.1665G>T
c.219+358G>T (n.219+358G>T)
c.325-1018G>T
c.4825G>T (p.Gly1609Trp)
c.4510G>T (p.Gly1504Trp)
c.2407G>T (p.Gly803Trp)
c.4849G>T (p.Gly1617Trp)
c.4840G>T (p.Gly1614Trp)
c.4831G>T (p.Gly1611Trp)
c.3169G>T (p.Gly1057Trp)
Xg.108695282dupCA891843704COL4A5c.4837dup (p.Ala1613GlyfsTer?)
c.4819dup (p.Ala1607GlyfsTer?)
n.1331dup
n.1668dup
c.219+361dup (n.219+361dup)
c.325-1015dup
c.4828dup (p.Ala1610GlyfsTer?)
c.4513dup (p.Ala1505GlyfsTer?)
c.2410dup (p.Ala804GlyfsTer?)
c.4852dup (p.Ala1618GlyfsTer?)
c.4843dup (p.Ala1615GlyfsTer?)
c.4834dup (p.Ala1612GlyfsTer?)
c.3172dup (p.Ala1058GlyfsTer?)
Xg.108695282delCA2543447048COL4A5c.4837del (p.Ala1613GlnfsTer8)
c.4819del (p.Ala1607GlnfsTer8)
n.1331del
n.1668del
c.219+361del (n.219+361del)
c.325-1015del
c.4828del (p.Ala1610GlnfsTer8)
c.4513del (p.Ala1505GlnfsTer8)
c.2410del (p.Ala804GlnfsTer8)
c.4852del (p.Ala1618GlnfsTer8)
c.4843del (p.Ala1615GlnfsTer8)
c.4834del (p.Ala1612GlnfsTer8)
c.3172del (p.Ala1058GlnfsTer8)
Xg.108695280G>ACA414132667COL4A5c.4835G>A (p.Gly1612Glu)
c.4817G>A (p.Gly1606Glu)
n.1329G>A
n.1666G>A
c.219+359G>A (n.219+359G>A)
c.325-1017G>A
c.4826G>A (p.Gly1609Glu)
c.4511G>A (p.Gly1504Glu)
c.2408G>A (p.Gly803Glu)
c.4850G>A (p.Gly1617Glu)
c.4841G>A (p.Gly1614Glu)
c.4832G>A (p.Gly1611Glu)
c.3170G>A (p.Gly1057Glu)
Xg.108695280G>CCA414132668COL4A5c.4835G>C (p.Gly1612Ala)
c.4817G>C (p.Gly1606Ala)
n.1329G>C
n.1666G>C
c.219+359G>C (n.219+359G>C)
c.325-1017G>C
c.4826G>C (p.Gly1609Ala)
c.4511G>C (p.Gly1504Ala)
c.2408G>C (p.Gly803Ala)
c.4850G>C (p.Gly1617Ala)
c.4841G>C (p.Gly1614Ala)
c.4832G>C (p.Gly1611Ala)
c.3170G>C (p.Gly1057Ala)
 COSMIC COSMIC
Xg.108695280G>TCA414132669COL4A5c.4835G>T (p.Gly1612Val)
c.4817G>T (p.Gly1606Val)
n.1329G>T
n.1666G>T
c.219+359G>T (n.219+359G>T)
c.325-1017G>T
c.4826G>T (p.Gly1609Val)
c.4511G>T (p.Gly1504Val)
c.2408G>T (p.Gly803Val)
c.4850G>T (p.Gly1617Val)
c.4841G>T (p.Gly1614Val)
c.4832G>T (p.Gly1611Val)
c.3170G>T (p.Gly1057Val)
Xg.108695281G>ACA517926061COL4A5c.4836G>A (p.Gly1612=)
c.4818G>A (p.Gly1606=)
n.1330G>A
n.1667G>A
c.219+360G>A (n.219+360G>A)
c.325-1016G>A
c.4827G>A (p.Gly1609=)
c.4512G>A (p.Gly1504=)
c.2409G>A (p.Gly803=)
c.4851G>A (p.Gly1617=)
c.4842G>A (p.Gly1614=)
c.4833G>A (p.Gly1611=)
c.3171G>A (p.Gly1057=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.108695281G>CCA517926062COL4A5c.4836G>C (p.Gly1612=)
c.4818G>C (p.Gly1606=)
n.1330G>C
n.1667G>C
c.219+360G>C (n.219+360G>C)
c.325-1016G>C
c.4827G>C (p.Gly1609=)
c.4512G>C (p.Gly1504=)
c.2409G>C (p.Gly803=)
c.4851G>C (p.Gly1617=)
c.4842G>C (p.Gly1614=)
c.4833G>C (p.Gly1611=)
c.3171G>C (p.Gly1057=)
Xg.108695281G>TCA517926063COL4A5c.4836G>T (p.Gly1612=)
c.4818G>T (p.Gly1606=)
n.1330G>T
n.1667G>T
c.219+360G>T (n.219+360G>T)
c.325-1016G>T
c.4827G>T (p.Gly1609=)
c.4512G>T (p.Gly1504=)
c.2409G>T (p.Gly803=)
c.4851G>T (p.Gly1617=)
c.4842G>T (p.Gly1614=)
c.4833G>T (p.Gly1611=)
c.3171G>T (p.Gly1057=)
Xg.108695282G>ACA414132670COL4A5c.4837G>A (p.Ala1613Thr)
c.4819G>A (p.Ala1607Thr)
n.1331G>A
n.1668G>A
c.219+361G>A (n.219+361G>A)
c.325-1015G>A
c.4828G>A (p.Ala1610Thr)
c.4513G>A (p.Ala1505Thr)
c.2410G>A (p.Ala804Thr)
c.4852G>A (p.Ala1618Thr)
c.4843G>A (p.Ala1615Thr)
c.4834G>A (p.Ala1612Thr)
c.3172G>A (p.Ala1058Thr)
 gnomAD v4 COSMIC COSMIC
Xg.108695282G>CCA414132671COL4A5c.4837G>C (p.Ala1613Pro)
c.4819G>C (p.Ala1607Pro)
n.1331G>C
n.1668G>C
c.219+361G>C (n.219+361G>C)
c.325-1015G>C
c.4828G>C (p.Ala1610Pro)
c.4513G>C (p.Ala1505Pro)
c.2410G>C (p.Ala804Pro)
c.4852G>C (p.Ala1618Pro)
c.4843G>C (p.Ala1615Pro)
c.4834G>C (p.Ala1612Pro)
c.3172G>C (p.Ala1058Pro)
Xg.108695282G>TCA414132672COL4A5c.4837G>T (p.Ala1613Ser)
c.4819G>T (p.Ala1607Ser)
n.1331G>T
n.1668G>T
c.219+361G>T (n.219+361G>T)
c.325-1015G>T
c.4828G>T (p.Ala1610Ser)
c.4513G>T (p.Ala1505Ser)
c.2410G>T (p.Ala804Ser)
c.4852G>T (p.Ala1618Ser)
c.4843G>T (p.Ala1615Ser)
c.4834G>T (p.Ala1612Ser)
c.3172G>T (p.Ala1058Ser)
Xg.108695283C>ACA414132673COL4A5c.4838C>A (p.Ala1613Glu)
c.4820C>A (p.Ala1607Glu)
n.1332C>A
n.1669C>A
c.219+362C>A (n.219+362C>A)
c.325-1014C>A
c.4829C>A (p.Ala1610Glu)
c.4514C>A (p.Ala1505Glu)
c.2411C>A (p.Ala804Glu)
c.4853C>A (p.Ala1618Glu)
c.4844C>A (p.Ala1615Glu)
c.4835C>A (p.Ala1612Glu)
c.3173C>A (p.Ala1058Glu)
 gnomAD v4
Xg.108695283C>GCA414132674COL4A5c.4838C>G (p.Ala1613Gly)
c.4820C>G (p.Ala1607Gly)
n.1332C>G
n.1669C>G
c.219+362C>G (n.219+362C>G)
c.325-1014C>G
c.4829C>G (p.Ala1610Gly)
c.4514C>G (p.Ala1505Gly)
c.2411C>G (p.Ala804Gly)
c.4853C>G (p.Ala1618Gly)
c.4844C>G (p.Ala1615Gly)
c.4835C>G (p.Ala1612Gly)
c.3173C>G (p.Ala1058Gly)
Xg.108695283C>TCA414132675COL4A5c.4838C>T (p.Ala1613Val)
c.4820C>T (p.Ala1607Val)
n.1332C>T
n.1669C>T
c.219+362C>T (n.219+362C>T)
c.325-1014C>T
c.4829C>T (p.Ala1610Val)
c.4514C>T (p.Ala1505Val)
c.2411C>T (p.Ala804Val)
c.4853C>T (p.Ala1618Val)
c.4844C>T (p.Ala1615Val)
c.4835C>T (p.Ala1612Val)
c.3173C>T (p.Ala1058Val)
Xg.108695284A=CA2450721728COL4A5c.4839A= (p.Ala1613=)
c.4821A= (p.Ala1607=)
n.1333A=
n.1670A=
c.219+363A= (n.219+363A=)
c.325-1013A=
c.4830A= (p.Ala1610=)
c.4515A= (p.Ala1505=)
c.2412A= (p.Ala804=)
c.4854A= (p.Ala1618=)
c.4845A= (p.Ala1615=)
c.4836A= (p.Ala1612=)
c.3174A= (p.Ala1058=)
Xg.108695284A>CCA517926064COL4A5c.4839A>C (p.Ala1613=)
c.4821A>C (p.Ala1607=)
n.1333A>C
n.1670A>C
c.219+363A>C (n.219+363A>C)
c.325-1013A>C
c.4830A>C (p.Ala1610=)
c.4515A>C (p.Ala1505=)
c.2412A>C (p.Ala804=)
c.4854A>C (p.Ala1618=)
c.4845A>C (p.Ala1615=)
c.4836A>C (p.Ala1612=)
c.3174A>C (p.Ala1058=)
Xg.108695284A>GCA517926065COL4A5c.4839A>G (p.Ala1613=)
c.4821A>G (p.Ala1607=)
n.1333A>G
n.1670A>G
c.219+363A>G (n.219+363A>G)
c.325-1013A>G
c.4830A>G (p.Ala1610=)
c.4515A>G (p.Ala1505=)
c.2412A>G (p.Ala804=)
c.4854A>G (p.Ala1618=)
c.4845A>G (p.Ala1615=)
c.4836A>G (p.Ala1612=)
c.3174A>G (p.Ala1058=)
 ClinVar dbSNP
Xg.108695284A>TCA517926066COL4A5c.4839A>T (p.Ala1613=)
c.4821A>T (p.Ala1607=)
n.1333A>T
n.1670A>T
c.219+363A>T (n.219+363A>T)
c.325-1013A>T
c.4830A>T (p.Ala1610=)
c.4515A>T (p.Ala1505=)
c.2412A>T (p.Ala804=)
c.4854A>T (p.Ala1618=)
c.4845A>T (p.Ala1615=)
c.4836A>T (p.Ala1612=)
c.3174A>T (p.Ala1058=)
Xg.108695285G>ACA414132676COL4A5c.4840G>A (p.Glu1614Lys)
c.4822G>A (p.Glu1608Lys)
n.1334G>A
n.1671G>A
c.219+364G>A (n.219+364G>A)
c.325-1012G>A
c.4831G>A (p.Glu1611Lys)
c.4516G>A (p.Glu1506Lys)
c.2413G>A (p.Glu805Lys)
c.4855G>A (p.Glu1619Lys)
c.4846G>A (p.Glu1616Lys)
c.4837G>A (p.Glu1613Lys)
c.3175G>A (p.Glu1059Lys)
Xg.108695285G>CCA414132677COL4A5c.4840G>C (p.Glu1614Gln)
c.4822G>C (p.Glu1608Gln)
n.1334G>C
n.1671G>C
c.219+364G>C (n.219+364G>C)
c.325-1012G>C
c.4831G>C (p.Glu1611Gln)
c.4516G>C (p.Glu1506Gln)
c.2413G>C (p.Glu805Gln)
c.4855G>C (p.Glu1619Gln)
c.4846G>C (p.Glu1616Gln)
c.4837G>C (p.Glu1613Gln)
c.3175G>C (p.Glu1059Gln)
Xg.108695285G>TCA414132678COL4A5c.4840G>T (p.Glu1614Ter)
c.4822G>T (p.Glu1608Ter)
n.1334G>T
n.1671G>T
c.219+364G>T (n.219+364G>T)
c.325-1012G>T
c.4831G>T (p.Glu1611Ter)
c.4516G>T (p.Glu1506Ter)
c.2413G>T (p.Glu805Ter)
c.4855G>T (p.Glu1619Ter)
c.4846G>T (p.Glu1616Ter)
c.4837G>T (p.Glu1613Ter)
c.3175G>T (p.Glu1059Ter)
Xg.108695286A>CCA414132681COL4A5c.4841A>C (p.Glu1614Ala)
c.4823A>C (p.Glu1608Ala)
n.1335A>C
n.1672A>C
c.219+365A>C (n.219+365A>C)
c.325-1011A>C
c.4832A>C (p.Glu1611Ala)
c.4517A>C (p.Glu1506Ala)
c.2414A>C (p.Glu805Ala)
c.4856A>C (p.Glu1619Ala)
c.4847A>C (p.Glu1616Ala)
c.4838A>C (p.Glu1613Ala)
c.3176A>C (p.Glu1059Ala)
Xg.108695286A>GCA414132679COL4A5c.4841A>G (p.Glu1614Gly)
c.4823A>G (p.Glu1608Gly)
n.1335A>G
n.1672A>G
c.219+365A>G (n.219+365A>G)
c.325-1011A>G
c.4832A>G (p.Glu1611Gly)
c.4517A>G (p.Glu1506Gly)
c.2414A>G (p.Glu805Gly)
c.4856A>G (p.Glu1619Gly)
c.4847A>G (p.Glu1616Gly)
c.4838A>G (p.Glu1613Gly)
c.3176A>G (p.Glu1059Gly)
Xg.108695286A>TCA414132680COL4A5c.4841A>T (p.Glu1614Val)
c.4823A>T (p.Glu1608Val)
n.1335A>T
n.1672A>T
c.219+365A>T (n.219+365A>T)
c.325-1011A>T
c.4832A>T (p.Glu1611Val)
c.4517A>T (p.Glu1506Val)
c.2414A>T (p.Glu805Val)
c.4856A>T (p.Glu1619Val)
c.4847A>T (p.Glu1616Val)
c.4838A>T (p.Glu1613Val)
c.3176A>T (p.Glu1059Val)
Xg.108695287A>CCA414132682COL4A5c.4842A>C (p.Glu1614Asp)
c.4824A>C (p.Glu1608Asp)
n.1336A>C
n.1673A>C
c.219+366A>C (n.219+366A>C)
c.325-1010A>C
c.4833A>C (p.Glu1611Asp)
c.4518A>C (p.Glu1506Asp)
c.2415A>C (p.Glu805Asp)
c.4857A>C (p.Glu1619Asp)
c.4848A>C (p.Glu1616Asp)
c.4839A>C (p.Glu1613Asp)
c.3177A>C (p.Glu1059Asp)
 gnomAD v3 gnomAD v4
Xg.108695287A>GCA517926067COL4A5c.4842A>G (p.Glu1614=)
c.4824A>G (p.Glu1608=)
n.1336A>G
n.1673A>G
c.219+366A>G (n.219+366A>G)
c.325-1010A>G
c.4833A>G (p.Glu1611=)
c.4518A>G (p.Glu1506=)
c.2415A>G (p.Glu805=)
c.4857A>G (p.Glu1619=)
c.4848A>G (p.Glu1616=)
c.4839A>G (p.Glu1613=)
c.3177A>G (p.Glu1059=)
Xg.108695287A>TCA414132683COL4A5c.4842A>T (p.Glu1614Asp)
c.4824A>T (p.Glu1608Asp)
n.1336A>T
n.1673A>T
c.219+366A>T (n.219+366A>T)
c.325-1010A>T
c.4833A>T (p.Glu1611Asp)
c.4518A>T (p.Glu1506Asp)
c.2415A>T (p.Glu805Asp)
c.4857A>T (p.Glu1619Asp)
c.4848A>T (p.Glu1616Asp)
c.4839A>T (p.Glu1613Asp)
c.3177A>T (p.Glu1059Asp)
Xg.108695288G>ACA414132684COL4A5c.4843G>A (p.Gly1615Ser)
c.4825G>A (p.Gly1609Ser)
n.1337G>A
n.1674G>A
c.219+367G>A (n.219+367G>A)
c.325-1009G>A
c.4834G>A (p.Gly1612Ser)
c.4519G>A (p.Gly1507Ser)
c.2416G>A (p.Gly806Ser)
c.4858G>A (p.Gly1620Ser)
c.4849G>A (p.Gly1617Ser)
c.4840G>A (p.Gly1614Ser)
c.3178G>A (p.Gly1060Ser)
Xg.108695288G>CCA414132685COL4A5c.4843G>C (p.Gly1615Arg)
c.4825G>C (p.Gly1609Arg)
n.1337G>C
n.1674G>C
c.219+367G>C (n.219+367G>C)
c.325-1009G>C
c.4834G>C (p.Gly1612Arg)
c.4519G>C (p.Gly1507Arg)
c.2416G>C (p.Gly806Arg)
c.4858G>C (p.Gly1620Arg)
c.4849G>C (p.Gly1617Arg)
c.4840G>C (p.Gly1614Arg)
c.3178G>C (p.Gly1060Arg)
Xg.108695288G>TCA414132686COL4A5c.4843G>T (p.Gly1615Cys)
c.4825G>T (p.Gly1609Cys)
n.1337G>T
n.1674G>T
c.219+367G>T (n.219+367G>T)
c.325-1009G>T
c.4834G>T (p.Gly1612Cys)
c.4519G>T (p.Gly1507Cys)
c.2416G>T (p.Gly806Cys)
c.4858G>T (p.Gly1620Cys)
c.4849G>T (p.Gly1617Cys)
c.4840G>T (p.Gly1614Cys)
c.3178G>T (p.Gly1060Cys)
Xg.108695289G>ACA414132687COL4A5c.4844G>A (p.Gly1615Asp)
c.4826G>A (p.Gly1609Asp)
n.1338G>A
n.1675G>A
c.219+368G>A (n.219+368G>A)
c.325-1008G>A
c.4835G>A (p.Gly1612Asp)
c.4520G>A (p.Gly1507Asp)
c.2417G>A (p.Gly806Asp)
c.4859G>A (p.Gly1620Asp)
c.4850G>A (p.Gly1617Asp)
c.4841G>A (p.Gly1614Asp)
c.3179G>A (p.Gly1060Asp)
Xg.108695289G>CCA414132688COL4A5c.4844G>C (p.Gly1615Ala)
c.4826G>C (p.Gly1609Ala)
n.1338G>C
n.1675G>C
c.219+368G>C (n.219+368G>C)
c.325-1008G>C
c.4835G>C (p.Gly1612Ala)
c.4520G>C (p.Gly1507Ala)
c.2417G>C (p.Gly806Ala)
c.4859G>C (p.Gly1620Ala)
c.4850G>C (p.Gly1617Ala)
c.4841G>C (p.Gly1614Ala)
c.3179G>C (p.Gly1060Ala)
Xg.108695289G>TCA414132689COL4A5c.4844G>T (p.Gly1615Val)
c.4826G>T (p.Gly1609Val)
n.1338G>T
n.1675G>T
c.219+368G>T (n.219+368G>T)
c.325-1008G>T
c.4835G>T (p.Gly1612Val)
c.4520G>T (p.Gly1507Val)
c.2417G>T (p.Gly806Val)
c.4859G>T (p.Gly1620Val)
c.4850G>T (p.Gly1617Val)
c.4841G>T (p.Gly1614Val)
c.3179G>T (p.Gly1060Val)
Xg.108695290C>ACA517926070COL4A5c.4845C>A (p.Gly1615=)
c.4827C>A (p.Gly1609=)
n.1339C>A
n.1676C>A
c.219+369C>A (n.219+369C>A)
c.325-1007C>A
c.4836C>A (p.Gly1612=)
c.4521C>A (p.Gly1507=)
c.2418C>A (p.Gly806=)
c.4860C>A (p.Gly1620=)
c.4851C>A (p.Gly1617=)
c.4842C>A (p.Gly1614=)
c.3180C>A (p.Gly1060=)
Xg.108695290C=CA2450721729COL4A5c.4845C= (p.Gly1615=)
c.4827C= (p.Gly1609=)
n.1339C=
n.1676C=
c.219+369C= (n.219+369C=)
c.325-1007C=
c.4836C= (p.Gly1612=)
c.4521C= (p.Gly1507=)
c.2418C= (p.Gly806=)
c.4860C= (p.Gly1620=)
c.4851C= (p.Gly1617=)
c.4842C= (p.Gly1614=)
c.3180C= (p.Gly1060=)
Xg.108695290C>GCA517926069COL4A5c.4845C>G (p.Gly1615=)
c.4827C>G (p.Gly1609=)
n.1339C>G
n.1676C>G
c.219+369C>G (n.219+369C>G)
c.325-1007C>G
c.4836C>G (p.Gly1612=)
c.4521C>G (p.Gly1507=)
c.2418C>G (p.Gly806=)
c.4860C>G (p.Gly1620=)
c.4851C>G (p.Gly1617=)
c.4842C>G (p.Gly1614=)
c.3180C>G (p.Gly1060=)
Xg.108695290C>TCA517926068COL4A5c.4845C>T (p.Gly1615=)
c.4827C>T (p.Gly1609=)
n.1339C>T
n.1676C>T
c.219+369C>T (n.219+369C>T)
c.325-1007C>T
c.4836C>T (p.Gly1612=)
c.4521C>T (p.Gly1507=)
c.2418C>T (p.Gly806=)
c.4860C>T (p.Gly1620=)
c.4851C>T (p.Gly1617=)
c.4842C>T (p.Gly1614=)
c.3180C>T (p.Gly1060=)
 ClinVar dbSNP
Xg.108695291T>ACA414132690COL4A5c.4846T>A (p.Ser1616Thr)
c.4828T>A (p.Ser1610Thr)
n.1340T>A
n.1677T>A
c.219+370T>A (n.219+370T>A)
c.325-1006T>A
c.4837T>A (p.Ser1613Thr)
c.4522T>A (p.Ser1508Thr)
c.2419T>A (p.Ser807Thr)
c.4861T>A (p.Ser1621Thr)
c.4852T>A (p.Ser1618Thr)
c.4843T>A (p.Ser1615Thr)
c.3181T>A (p.Ser1061Thr)
Xg.108695291T>CCA334063250COL4A5c.4846T>C (p.Ser1616Pro)
c.4828T>C (p.Ser1610Pro)
n.1340T>C
n.1677T>C
c.219+370T>C (n.219+370T>C)
c.325-1006T>C
c.4837T>C (p.Ser1613Pro)
c.4522T>C (p.Ser1508Pro)
c.2419T>C (p.Ser807Pro)
c.4861T>C (p.Ser1621Pro)
c.4852T>C (p.Ser1618Pro)
c.4843T>C (p.Ser1615Pro)
c.3181T>C (p.Ser1061Pro)
 dbSNP
Xg.108695291T>GCA414132691COL4A5c.4846T>G (p.Ser1616Ala)
c.4828T>G (p.Ser1610Ala)
n.1340T>G
n.1677T>G
c.219+370T>G (n.219+370T>G)
c.325-1006T>G
c.4837T>G (p.Ser1613Ala)
c.4522T>G (p.Ser1508Ala)
c.2419T>G (p.Ser807Ala)
c.4861T>G (p.Ser1621Ala)
c.4852T>G (p.Ser1618Ala)
c.4843T>G (p.Ser1615Ala)
c.3181T>G (p.Ser1061Ala)
Xg.108695291T=CA2450721730COL4A5c.4846T= (p.Ser1616=)
c.4828T= (p.Ser1610=)
n.1340T=
n.1677T=
c.219+370T= (n.219+370T=)
c.325-1006T=
c.4837T= (p.Ser1613=)
c.4522T= (p.Ser1508=)
c.2419T= (p.Ser807=)
c.4861T= (p.Ser1621=)
c.4852T= (p.Ser1618=)
c.4843T= (p.Ser1615=)
c.3181T= (p.Ser1061=)
Xg.108695292delCA2579677323COL4A5c.4847del (p.Ser1616Ter)
c.4829del (p.Ser1610Ter)
n.1341del
n.1678del
c.219+371del (n.219+371del)
c.325-1005del
c.4838del (p.Ser1613Ter)
c.4523del (p.Ser1508Ter)
c.2420del (p.Ser807Ter)
c.4862del (p.Ser1621Ter)
c.4853del (p.Ser1618Ter)
c.4844del (p.Ser1615Ter)
c.3182del (p.Ser1061Ter)
Xg.108695292C>ACA414132693COL4A5c.4847C>A (p.Ser1616Ter)
c.4829C>A (p.Ser1610Ter)
n.1341C>A
n.1678C>A
c.219+371C>A (n.219+371C>A)
c.325-1005C>A
c.4838C>A (p.Ser1613Ter)
c.4523C>A (p.Ser1508Ter)
c.2420C>A (p.Ser807Ter)
c.4862C>A (p.Ser1621Ter)
c.4853C>A (p.Ser1618Ter)
c.4844C>A (p.Ser1615Ter)
c.3182C>A (p.Ser1061Ter)
 ClinVar dbSNP
Xg.108695292C=CA2450721731COL4A5c.4847C= (p.Ser1616=)
c.4829C= (p.Ser1610=)
n.1341C=
n.1678C=
c.219+371C= (n.219+371C=)
c.325-1005C=
c.4838C= (p.Ser1613=)
c.4523C= (p.Ser1508=)
c.2420C= (p.Ser807=)
c.4862C= (p.Ser1621=)
c.4853C= (p.Ser1618=)
c.4844C= (p.Ser1615=)
c.3182C= (p.Ser1061=)
Xg.108695292C>GCA414132692COL4A5c.4847C>G (p.Ser1616Ter)
c.4829C>G (p.Ser1610Ter)
n.1341C>G
n.1678C>G
c.219+371C>G (n.219+371C>G)
c.325-1005C>G
c.4838C>G (p.Ser1613Ter)
c.4523C>G (p.Ser1508Ter)
c.2420C>G (p.Ser807Ter)
c.4862C>G (p.Ser1621Ter)
c.4853C>G (p.Ser1618Ter)
c.4844C>G (p.Ser1615Ter)
c.3182C>G (p.Ser1061Ter)
 ClinVar
Xg.108695292C>TCA10489438COL4A5c.4847C>T (p.Ser1616Leu)
c.4829C>T (p.Ser1610Leu)
n.1341C>T
n.1678C>T
c.219+371C>T (n.219+371C>T)
c.325-1005C>T
c.4838C>T (p.Ser1613Leu)
c.4523C>T (p.Ser1508Leu)
c.2420C>T (p.Ser807Leu)
c.4862C>T (p.Ser1621Leu)
c.4853C>T (p.Ser1618Leu)
c.4844C>T (p.Ser1615Leu)
c.3182C>T (p.Ser1061Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108695293A=CA2450721733COL4A5c.4848A= (p.Ser1616=)
c.4830A= (p.Ser1610=)
n.1342A=
n.1679A=
c.219+372A= (n.219+372A=)
c.325-1004A=
c.4839A= (p.Ser1613=)
c.4524A= (p.Ser1508=)
c.2421A= (p.Ser807=)
c.4863A= (p.Ser1621=)
c.4854A= (p.Ser1618=)
c.4845A= (p.Ser1615=)
c.3183A= (p.Ser1061=)
Xg.108695293A>CCA517926071COL4A5c.4848A>C (p.Ser1616=)
c.4830A>C (p.Ser1610=)
n.1342A>C
n.1679A>C
c.219+372A>C (n.219+372A>C)
c.325-1004A>C
c.4839A>C (p.Ser1613=)
c.4524A>C (p.Ser1508=)
c.2421A>C (p.Ser807=)
c.4863A>C (p.Ser1621=)
c.4854A>C (p.Ser1618=)
c.4845A>C (p.Ser1615=)
c.3183A>C (p.Ser1061=)
Xg.108695293A>GCA517926072COL4A5c.4848A>G (p.Ser1616=)
c.4830A>G (p.Ser1610=)
n.1342A>G
n.1679A>G
c.219+372A>G (n.219+372A>G)
c.325-1004A>G
c.4839A>G (p.Ser1613=)
c.4524A>G (p.Ser1508=)
c.2421A>G (p.Ser807=)
c.4863A>G (p.Ser1621=)
c.4854A>G (p.Ser1618=)
c.4845A>G (p.Ser1615=)
c.3183A>G (p.Ser1061=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108695293A>TCA517926073COL4A5c.4848A>T (p.Ser1616=)
c.4830A>T (p.Ser1610=)
n.1342A>T
n.1679A>T
c.219+372A>T (n.219+372A>T)
c.325-1004A>T
c.4839A>T (p.Ser1613=)
c.4524A>T (p.Ser1508=)
c.2421A>T (p.Ser807=)
c.4863A>T (p.Ser1621=)
c.4854A>T (p.Ser1618=)
c.4845A>T (p.Ser1615=)
c.3183A>T (p.Ser1061=)
Xg.108695293_108695294delinsAGCA2450721732COL4A5c.4848_4849delinsAG (p.Ser1616=)
c.4830_4831delinsAG (p.Ser1610=)
n.1342_1343delinsAG
n.1679_1680delinsAG
c.219+372_219+373delinsAG (n.219+372_219+373delinsAG)
c.325-1004_325-1003delinsAG
c.4839_4840delinsAG (p.Ser1613=)
c.4524_4525delinsAG (p.Ser1508=)
c.2421_2422delinsAG (p.Ser807=)
c.4863_4864delinsAG (p.Ser1621=)
c.4854_4855delinsAG (p.Ser1618=)
c.4845_4846delinsAG (p.Ser1615=)
c.3183_3184delinsAG (p.Ser1061=)
Xg.108695294G>ACA414132694COL4A5c.4849G>A (p.Gly1617Ser)
c.4831G>A (p.Gly1611Ser)
n.1343G>A
n.1680G>A
c.219+373G>A (n.219+373G>A)
c.325-1003G>A
c.4840G>A (p.Gly1614Ser)
c.4525G>A (p.Gly1509Ser)
c.2422G>A (p.Gly808Ser)
c.4864G>A (p.Gly1622Ser)
c.4855G>A (p.Gly1619Ser)
c.4846G>A (p.Gly1616Ser)
c.3184G>A (p.Gly1062Ser)
Xg.108695294G>CCA414132695COL4A5c.4849G>C (p.Gly1617Arg)
c.4831G>C (p.Gly1611Arg)
n.1343G>C
n.1680G>C
c.219+373G>C (n.219+373G>C)
c.325-1003G>C
c.4840G>C (p.Gly1614Arg)
c.4525G>C (p.Gly1509Arg)
c.2422G>C (p.Gly808Arg)
c.4864G>C (p.Gly1622Arg)
c.4855G>C (p.Gly1619Arg)
c.4846G>C (p.Gly1616Arg)
c.3184G>C (p.Gly1062Arg)
Xg.108695294G>TCA414132696COL4A5c.4849G>T (p.Gly1617Cys)
c.4831G>T (p.Gly1611Cys)
n.1343G>T
n.1680G>T
c.219+373G>T (n.219+373G>T)
c.325-1003G>T
c.4840G>T (p.Gly1614Cys)
c.4525G>T (p.Gly1509Cys)
c.2422G>T (p.Gly808Cys)
c.4864G>T (p.Gly1622Cys)
c.4855G>T (p.Gly1619Cys)
c.4846G>T (p.Gly1616Cys)
c.3184G>T (p.Gly1062Cys)
Xg.108695295delCA259129COL4A5c.4850del (p.Gly1617ValfsTer4)
c.4832del (p.Gly1611ValfsTer4)
n.1344del
n.1681del
c.219+374del (n.219+374del)
c.325-1002del
c.4841del (p.Gly1614ValfsTer4)
c.4526del (p.Gly1509ValfsTer4)
c.2423del (p.Gly808ValfsTer4)
c.4865del (p.Gly1622ValfsTer4)
c.4856del (p.Gly1619ValfsTer4)
c.4847del (p.Gly1616ValfsTer4)
c.3185del (p.Gly1062ValfsTer4)
 dbSNP
Xg.108695295G>ACA414132697COL4A5c.4850G>A (p.Gly1617Asp)
c.4832G>A (p.Gly1611Asp)
n.1344G>A
n.1681G>A
c.219+374G>A (n.219+374G>A)
c.325-1002G>A
c.4841G>A (p.Gly1614Asp)
c.4526G>A (p.Gly1509Asp)
c.2423G>A (p.Gly808Asp)
c.4865G>A (p.Gly1622Asp)
c.4856G>A (p.Gly1619Asp)
c.4847G>A (p.Gly1616Asp)
c.3185G>A (p.Gly1062Asp)
 dbSNP gnomAD v3 gnomAD v4
Xg.108695295G>CCA414132698COL4A5c.4850G>C (p.Gly1617Ala)
c.4832G>C (p.Gly1611Ala)
n.1344G>C
n.1681G>C
c.219+374G>C (n.219+374G>C)
c.325-1002G>C
c.4841G>C (p.Gly1614Ala)
c.4526G>C (p.Gly1509Ala)
c.2423G>C (p.Gly808Ala)
c.4865G>C (p.Gly1622Ala)
c.4856G>C (p.Gly1619Ala)
c.4847G>C (p.Gly1616Ala)
c.3185G>C (p.Gly1062Ala)
Xg.108695295G=CA2450721734COL4A5c.4850G= (p.Gly1617=)
c.4832G= (p.Gly1611=)
n.1344G=
n.1681G=
c.219+374G= (n.219+374G=)
c.325-1002G=
c.4841G= (p.Gly1614=)
c.4526G= (p.Gly1509=)
c.2423G= (p.Gly808=)
c.4865G= (p.Gly1622=)
c.4856G= (p.Gly1619=)
c.4847G= (p.Gly1616=)
c.3185G= (p.Gly1062=)
Xg.108695295G>TCA414132699COL4A5c.4850G>T (p.Gly1617Val)
c.4832G>T (p.Gly1611Val)
n.1344G>T
n.1681G>T
c.219+374G>T (n.219+374G>T)
c.325-1002G>T
c.4841G>T (p.Gly1614Val)
c.4526G>T (p.Gly1509Val)
c.2423G>T (p.Gly808Val)
c.4865G>T (p.Gly1622Val)
c.4856G>T (p.Gly1619Val)
c.4847G>T (p.Gly1616Val)
c.3185G>T (p.Gly1062Val)
Xg.108695296T>ACA517926074COL4A5c.4851T>A (p.Gly1617=)
c.4833T>A (p.Gly1611=)
n.1345T>A
n.1682T>A
c.219+375T>A (n.219+375T>A)
c.325-1001T>A
c.4842T>A (p.Gly1614=)
c.4527T>A (p.Gly1509=)
c.2424T>A (p.Gly808=)
c.4866T>A (p.Gly1622=)
c.4857T>A (p.Gly1619=)
c.4848T>A (p.Gly1616=)
c.3186T>A (p.Gly1062=)
Xg.108695296T>CCA517926076COL4A5c.4851T>C (p.Gly1617=)
c.4833T>C (p.Gly1611=)
n.1345T>C
n.1682T>C
c.219+375T>C (n.219+375T>C)
c.325-1001T>C
c.4842T>C (p.Gly1614=)
c.4527T>C (p.Gly1509=)
c.2424T>C (p.Gly808=)
c.4866T>C (p.Gly1622=)
c.4857T>C (p.Gly1619=)
c.4848T>C (p.Gly1616=)
c.3186T>C (p.Gly1062=)
Xg.108695296T>GCA517926075COL4A5c.4851T>G (p.Gly1617=)
c.4833T>G (p.Gly1611=)
n.1345T>G
n.1682T>G
c.219+375T>G (n.219+375T>G)
c.325-1001T>G
c.4842T>G (p.Gly1614=)
c.4527T>G (p.Gly1509=)
c.2424T>G (p.Gly808=)
c.4866T>G (p.Gly1622=)
c.4857T>G (p.Gly1619=)
c.4848T>G (p.Gly1616=)
c.3186T>G (p.Gly1062=)
Xg.108695297C>ACA414132700COL4A5c.4852C>A (p.Gln1618Lys)
c.4834C>A (p.Gln1612Lys)
n.1346C>A
n.1683C>A
c.219+376C>A (n.219+376C>A)
c.325-1000C>A
c.4843C>A (p.Gln1615Lys)
c.4528C>A (p.Gln1510Lys)
c.2425C>A (p.Gln809Lys)
c.4867C>A (p.Gln1623Lys)
c.4858C>A (p.Gln1620Lys)
c.4849C>A (p.Gln1617Lys)
c.3187C>A (p.Gln1063Lys)
 gnomAD v4
Xg.108695297C>GCA414132701COL4A5c.4852C>G (p.Gln1618Glu)
c.4834C>G (p.Gln1612Glu)
n.1346C>G
n.1683C>G
c.219+376C>G (n.219+376C>G)
c.325-1000C>G
c.4843C>G (p.Gln1615Glu)
c.4528C>G (p.Gln1510Glu)
c.2425C>G (p.Gln809Glu)
c.4867C>G (p.Gln1623Glu)
c.4858C>G (p.Gln1620Glu)
c.4849C>G (p.Gln1617Glu)
c.3187C>G (p.Gln1063Glu)
Xg.108695297C>TCA414132702COL4A5c.4852C>T (p.Gln1618Ter)
c.4834C>T (p.Gln1612Ter)
n.1346C>T
n.1683C>T
c.219+376C>T (n.219+376C>T)
c.325-1000C>T
c.4843C>T (p.Gln1615Ter)
c.4528C>T (p.Gln1510Ter)
c.2425C>T (p.Gln809Ter)
c.4867C>T (p.Gln1623Ter)
c.4858C>T (p.Gln1620Ter)
c.4849C>T (p.Gln1617Ter)
c.3187C>T (p.Gln1063Ter)
Xg.108695298A>CCA414132703COL4A5c.4853A>C (p.Gln1618Pro)
c.4835A>C (p.Gln1612Pro)
n.1347A>C
n.1684A>C
c.219+377A>C (n.219+377A>C)
c.325-999A>C
c.4844A>C (p.Gln1615Pro)
c.4529A>C (p.Gln1510Pro)
c.2426A>C (p.Gln809Pro)
c.4868A>C (p.Gln1623Pro)
c.4859A>C (p.Gln1620Pro)
c.4850A>C (p.Gln1617Pro)
c.3188A>C (p.Gln1063Pro)
Xg.108695298A>GCA414132704COL4A5c.4853A>G (p.Gln1618Arg)
c.4835A>G (p.Gln1612Arg)
n.1347A>G
n.1684A>G
c.219+377A>G (n.219+377A>G)
c.325-999A>G
c.4844A>G (p.Gln1615Arg)
c.4529A>G (p.Gln1510Arg)
c.2426A>G (p.Gln809Arg)
c.4868A>G (p.Gln1623Arg)
c.4859A>G (p.Gln1620Arg)
c.4850A>G (p.Gln1617Arg)
c.3188A>G (p.Gln1063Arg)
Xg.108695298A>TCA414132705COL4A5c.4853A>T (p.Gln1618Leu)
c.4835A>T (p.Gln1612Leu)
n.1347A>T
n.1684A>T
c.219+377A>T (n.219+377A>T)
c.325-999A>T
c.4844A>T (p.Gln1615Leu)
c.4529A>T (p.Gln1510Leu)
c.2426A>T (p.Gln809Leu)
c.4868A>T (p.Gln1623Leu)
c.4859A>T (p.Gln1620Leu)
c.4850A>T (p.Gln1617Leu)
c.3188A>T (p.Gln1063Leu)
Xg.108695299A>CCA414132707COL4A5c.4854A>C (p.Gln1618His)
c.4836A>C (p.Gln1612His)
n.1348A>C
n.1685A>C
c.219+378A>C (n.219+378A>C)
c.325-998A>C
c.4845A>C (p.Gln1615His)
c.4530A>C (p.Gln1510His)
c.2427A>C (p.Gln809His)
c.4869A>C (p.Gln1623His)
c.4860A>C (p.Gln1620His)
c.4851A>C (p.Gln1617His)
c.3189A>C (p.Gln1063His)
Xg.108695299A>GCA517926077COL4A5c.4854A>G (p.Gln1618=)
c.4836A>G (p.Gln1612=)
n.1348A>G
n.1685A>G
c.219+378A>G (n.219+378A>G)
c.325-998A>G
c.4845A>G (p.Gln1615=)
c.4530A>G (p.Gln1510=)
c.2427A>G (p.Gln809=)
c.4869A>G (p.Gln1623=)
c.4860A>G (p.Gln1620=)
c.4851A>G (p.Gln1617=)
c.3189A>G (p.Gln1063=)
Xg.108695299A>TCA414132706COL4A5c.4854A>T (p.Gln1618His)
c.4836A>T (p.Gln1612His)
n.1348A>T
n.1685A>T
c.219+378A>T (n.219+378A>T)
c.325-998A>T
c.4845A>T (p.Gln1615His)
c.4530A>T (p.Gln1510His)
c.2427A>T (p.Gln809His)
c.4869A>T (p.Gln1623His)
c.4860A>T (p.Gln1620His)
c.4851A>T (p.Gln1617His)
c.3189A>T (p.Gln1063His)
Xg.108695300G>ACA414132708COL4A5c.4855G>A (p.Ala1619Thr)
c.4837G>A (p.Ala1613Thr)
n.1349G>A
n.1686G>A
c.219+379G>A (n.219+379G>A)
c.325-997G>A
c.4846G>A (p.Ala1616Thr)
c.4531G>A (p.Ala1511Thr)
c.2428G>A (p.Ala810Thr)
c.4870G>A (p.Ala1624Thr)
c.4861G>A (p.Ala1621Thr)
c.4852G>A (p.Ala1618Thr)
c.3190G>A (p.Ala1064Thr)
Xg.108695300G>CCA414132709COL4A5c.4855G>C (p.Ala1619Pro)
c.4837G>C (p.Ala1613Pro)
n.1349G>C
n.1686G>C
c.219+379G>C (n.219+379G>C)
c.325-997G>C
c.4846G>C (p.Ala1616Pro)
c.4531G>C (p.Ala1511Pro)
c.2428G>C (p.Ala810Pro)
c.4870G>C (p.Ala1624Pro)
c.4861G>C (p.Ala1621Pro)
c.4852G>C (p.Ala1618Pro)
c.3190G>C (p.Ala1064Pro)
Xg.108695300G>TCA414132710COL4A5c.4855G>T (p.Ala1619Ser)
c.4837G>T (p.Ala1613Ser)
n.1349G>T
n.1686G>T
c.219+379G>T (n.219+379G>T)
c.325-997G>T
c.4846G>T (p.Ala1616Ser)
c.4531G>T (p.Ala1511Ser)
c.2428G>T (p.Ala810Ser)
c.4870G>T (p.Ala1624Ser)
c.4861G>T (p.Ala1621Ser)
c.4852G>T (p.Ala1618Ser)
c.3190G>T (p.Ala1064Ser)
 COSMIC COSMIC
Xg.108695301C>ACA414132711COL4A5c.4856C>A (p.Ala1619Asp)
c.4838C>A (p.Ala1613Asp)
n.1350C>A
n.1687C>A
c.219+380C>A (n.219+380C>A)
c.325-996C>A
c.4847C>A (p.Ala1616Asp)
c.4532C>A (p.Ala1511Asp)
c.2429C>A (p.Ala810Asp)
c.4871C>A (p.Ala1624Asp)
c.4862C>A (p.Ala1621Asp)
c.4853C>A (p.Ala1618Asp)
c.3191C>A (p.Ala1064Asp)
Xg.108695301C>GCA414132712COL4A5c.4856C>G (p.Ala1619Gly)
c.4838C>G (p.Ala1613Gly)
n.1350C>G
n.1687C>G
c.219+380C>G (n.219+380C>G)
c.325-996C>G
c.4847C>G (p.Ala1616Gly)
c.4532C>G (p.Ala1511Gly)
c.2429C>G (p.Ala810Gly)
c.4871C>G (p.Ala1624Gly)
c.4862C>G (p.Ala1621Gly)
c.4853C>G (p.Ala1618Gly)
c.3191C>G (p.Ala1064Gly)
Xg.108695301C>TCA414132713COL4A5c.4856C>T (p.Ala1619Val)
c.4838C>T (p.Ala1613Val)
n.1350C>T
n.1687C>T
c.219+380C>T (n.219+380C>T)
c.325-996C>T
c.4847C>T (p.Ala1616Val)
c.4532C>T (p.Ala1511Val)
c.2429C>T (p.Ala810Val)
c.4871C>T (p.Ala1624Val)
c.4862C>T (p.Ala1621Val)
c.4853C>T (p.Ala1618Val)
c.3191C>T (p.Ala1064Val)
 ClinVar
Xg.108695302C>ACA517926078COL4A5c.4857C>A (p.Ala1619=)
c.4839C>A (p.Ala1613=)
n.1351C>A
n.1688C>A
c.219+381C>A (n.219+381C>A)
c.325-995C>A
c.4848C>A (p.Ala1616=)
c.4533C>A (p.Ala1511=)
c.2430C>A (p.Ala810=)
c.4872C>A (p.Ala1624=)
c.4863C>A (p.Ala1621=)
c.4854C>A (p.Ala1618=)
c.3192C>A (p.Ala1064=)
Xg.108695302C>GCA517926079COL4A5c.4857C>G (p.Ala1619=)
c.4839C>G (p.Ala1613=)
n.1351C>G
n.1688C>G
c.219+381C>G (n.219+381C>G)
c.325-995C>G
c.4848C>G (p.Ala1616=)
c.4533C>G (p.Ala1511=)
c.2430C>G (p.Ala810=)
c.4872C>G (p.Ala1624=)
c.4863C>G (p.Ala1621=)
c.4854C>G (p.Ala1618=)
c.3192C>G (p.Ala1064=)
Xg.108695302C>TCA517926080COL4A5c.4857C>T (p.Ala1619=)
c.4839C>T (p.Ala1613=)
n.1351C>T
n.1688C>T
c.219+381C>T (n.219+381C>T)
c.325-995C>T
c.4848C>T (p.Ala1616=)
c.4533C>T (p.Ala1511=)
c.2430C>T (p.Ala810=)
c.4872C>T (p.Ala1624=)
c.4863C>T (p.Ala1621=)
c.4854C>T (p.Ala1618=)
c.3192C>T (p.Ala1064=)
 COSMIC COSMIC
Xg.108695303C>ACA414132714COL4A5c.4858C>A (p.Leu1620Ile)
c.4840C>A (p.Leu1614Ile)
n.1352C>A
n.1689C>A
c.219+382C>A (n.219+382C>A)
c.325-994C>A
c.4849C>A (p.Leu1617Ile)
c.4534C>A (p.Leu1512Ile)
c.2431C>A (p.Leu811Ile)
c.4873C>A (p.Leu1625Ile)
c.4864C>A (p.Leu1622Ile)
c.4855C>A (p.Leu1619Ile)
c.3193C>A (p.Leu1065Ile)
Xg.108695303C>GCA414132715COL4A5c.4858C>G (p.Leu1620Val)
c.4840C>G (p.Leu1614Val)
n.1352C>G
n.1689C>G
c.219+382C>G (n.219+382C>G)
c.325-994C>G
c.4849C>G (p.Leu1617Val)
c.4534C>G (p.Leu1512Val)
c.2431C>G (p.Leu811Val)
c.4873C>G (p.Leu1625Val)
c.4864C>G (p.Leu1622Val)
c.4855C>G (p.Leu1619Val)
c.3193C>G (p.Leu1065Val)
Xg.108695303C>TCA517926081COL4A5c.4858C>T (p.Leu1620=)
c.4840C>T (p.Leu1614=)
n.1352C>T
n.1689C>T
c.219+382C>T (n.219+382C>T)
c.325-994C>T
c.4849C>T (p.Leu1617=)
c.4534C>T (p.Leu1512=)
c.2431C>T (p.Leu811=)
c.4873C>T (p.Leu1625=)
c.4864C>T (p.Leu1622=)
c.4855C>T (p.Leu1619=)
c.3193C>T (p.Leu1065=)
Xg.108695304T>ACA414132716COL4A5c.4859T>A (p.Leu1620Gln)
c.4841T>A (p.Leu1614Gln)
n.1353T>A
n.1690T>A
c.219+383T>A (n.219+383T>A)
c.325-993T>A
c.4850T>A (p.Leu1617Gln)
c.4535T>A (p.Leu1512Gln)
c.2432T>A (p.Leu811Gln)
c.4874T>A (p.Leu1625Gln)
c.4865T>A (p.Leu1622Gln)
c.4856T>A (p.Leu1619Gln)
c.3194T>A (p.Leu1065Gln)
Xg.108695304T>CCA414132717COL4A5c.4859T>C (p.Leu1620Pro)
c.4841T>C (p.Leu1614Pro)
n.1353T>C
n.1690T>C
c.219+383T>C (n.219+383T>C)
c.325-993T>C
c.4850T>C (p.Leu1617Pro)
c.4535T>C (p.Leu1512Pro)
c.2432T>C (p.Leu811Pro)
c.4874T>C (p.Leu1625Pro)
c.4865T>C (p.Leu1622Pro)
c.4856T>C (p.Leu1619Pro)
c.3194T>C (p.Leu1065Pro)
Xg.108695304T>GCA414132718COL4A5c.4859T>G (p.Leu1620Arg)
c.4841T>G (p.Leu1614Arg)
n.1353T>G
n.1690T>G
c.219+383T>G (n.219+383T>G)
c.325-993T>G
c.4850T>G (p.Leu1617Arg)
c.4535T>G (p.Leu1512Arg)
c.2432T>G (p.Leu811Arg)
c.4874T>G (p.Leu1625Arg)
c.4865T>G (p.Leu1622Arg)
c.4856T>G (p.Leu1619Arg)
c.3194T>G (p.Leu1065Arg)
Xg.108695305A>CCA517926084COL4A5c.4860A>C (p.Leu1620=)
c.4842A>C (p.Leu1614=)
n.1354A>C
n.1691A>C
c.219+384A>C (n.219+384A>C)
c.325-992A>C
c.4851A>C (p.Leu1617=)
c.4536A>C (p.Leu1512=)
c.2433A>C (p.Leu811=)
c.4875A>C (p.Leu1625=)
c.4866A>C (p.Leu1622=)
c.4857A>C (p.Leu1619=)
c.3195A>C (p.Leu1065=)
Xg.108695305A>GCA517926083COL4A5c.4860A>G (p.Leu1620=)
c.4842A>G (p.Leu1614=)
n.1354A>G
n.1691A>G
c.219+384A>G (n.219+384A>G)
c.325-992A>G
c.4851A>G (p.Leu1617=)
c.4536A>G (p.Leu1512=)
c.2433A>G (p.Leu811=)
c.4875A>G (p.Leu1625=)
c.4866A>G (p.Leu1622=)
c.4857A>G (p.Leu1619=)
c.3195A>G (p.Leu1065=)
Xg.108695305A>TCA517926082COL4A5c.4860A>T (p.Leu1620=)
c.4842A>T (p.Leu1614=)
n.1354A>T
n.1691A>T
c.219+384A>T (n.219+384A>T)
c.325-992A>T
c.4851A>T (p.Leu1617=)
c.4536A>T (p.Leu1512=)
c.2433A>T (p.Leu811=)
c.4875A>T (p.Leu1625=)
c.4866A>T (p.Leu1622=)
c.4857A>T (p.Leu1619=)
c.3195A>T (p.Leu1065=)
Xg.108695306G>ACA414132719COL4A5c.4861G>A (p.Ala1621Thr)
c.4843G>A (p.Ala1615Thr)
n.1355G>A
n.1692G>A
c.219+385G>A (n.219+385G>A)
c.325-991G>A
c.4852G>A (p.Ala1618Thr)
c.4537G>A (p.Ala1513Thr)
c.2434G>A (p.Ala812Thr)
c.4876G>A (p.Ala1626Thr)
c.4867G>A (p.Ala1623Thr)
c.4858G>A (p.Ala1620Thr)
c.3196G>A (p.Ala1066Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.108695306G>CCA414132720COL4A5c.4861G>C (p.Ala1621Pro)
c.4843G>C (p.Ala1615Pro)
n.1355G>C
n.1692G>C
c.219+385G>C (n.219+385G>C)
c.325-991G>C
c.4852G>C (p.Ala1618Pro)
c.4537G>C (p.Ala1513Pro)
c.2434G>C (p.Ala812Pro)
c.4876G>C (p.Ala1626Pro)
c.4867G>C (p.Ala1623Pro)
c.4858G>C (p.Ala1620Pro)
c.3196G>C (p.Ala1066Pro)
Xg.108695306G=CA2450721735COL4A5c.4861G= (p.Ala1621=)
c.4843G= (p.Ala1615=)
n.1355G=
n.1692G=
c.219+385G= (n.219+385G=)
c.325-991G=
c.4852G= (p.Ala1618=)
c.4537G= (p.Ala1513=)
c.2434G= (p.Ala812=)
c.4876G= (p.Ala1626=)
c.4867G= (p.Ala1623=)
c.4858G= (p.Ala1620=)
c.3196G= (p.Ala1066=)
Xg.108695306G>TCA414132721COL4A5c.4861G>T (p.Ala1621Ser)
c.4843G>T (p.Ala1615Ser)
n.1355G>T
n.1692G>T
c.219+385G>T (n.219+385G>T)
c.325-991G>T
c.4852G>T (p.Ala1618Ser)
c.4537G>T (p.Ala1513Ser)
c.2434G>T (p.Ala812Ser)
c.4876G>T (p.Ala1626Ser)
c.4867G>T (p.Ala1623Ser)
c.4858G>T (p.Ala1620Ser)
c.3196G>T (p.Ala1066Ser)
Xg.108695307C>ACA414132723COL4A5c.4862C>A (p.Ala1621Asp)
c.4844C>A (p.Ala1615Asp)
n.1356C>A
n.1693C>A
c.219+386C>A (n.219+386C>A)
c.325-990C>A
c.4853C>A (p.Ala1618Asp)
c.4538C>A (p.Ala1513Asp)
c.2435C>A (p.Ala812Asp)
c.4877C>A (p.Ala1626Asp)
c.4868C>A (p.Ala1623Asp)
c.4859C>A (p.Ala1620Asp)
c.3197C>A (p.Ala1066Asp)
Xg.108695307C=CA2450721736COL4A5c.4862C= (p.Ala1621=)
c.4844C= (p.Ala1615=)
n.1356C=
n.1693C=
c.219+386C= (n.219+386C=)
c.325-990C=
c.4853C= (p.Ala1618=)
c.4538C= (p.Ala1513=)
c.2435C= (p.Ala812=)
c.4877C= (p.Ala1626=)
c.4868C= (p.Ala1623=)
c.4859C= (p.Ala1620=)
c.3197C= (p.Ala1066=)
Xg.108695307C>GCA414132722COL4A5c.4862C>G (p.Ala1621Gly)
c.4844C>G (p.Ala1615Gly)
n.1356C>G
n.1693C>G
c.219+386C>G (n.219+386C>G)
c.325-990C>G
c.4853C>G (p.Ala1618Gly)
c.4538C>G (p.Ala1513Gly)
c.2435C>G (p.Ala812Gly)
c.4877C>G (p.Ala1626Gly)
c.4868C>G (p.Ala1623Gly)
c.4859C>G (p.Ala1620Gly)
c.3197C>G (p.Ala1066Gly)
Xg.108695307C>TCA10489439COL4A5c.4862C>T (p.Ala1621Val)
c.4844C>T (p.Ala1615Val)
n.1356C>T
n.1693C>T
c.219+386C>T (n.219+386C>T)
c.325-990C>T
c.4853C>T (p.Ala1618Val)
c.4538C>T (p.Ala1513Val)
c.2435C>T (p.Ala812Val)
c.4877C>T (p.Ala1626Val)
c.4868C>T (p.Ala1623Val)
c.4859C>T (p.Ala1620Val)
c.3197C>T (p.Ala1066Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108695308C>ACA517926085COL4A5c.4863C>A (p.Ala1621=)
c.4845C>A (p.Ala1615=)
n.1357C>A
n.1694C>A
c.219+387C>A (n.219+387C>A)
c.325-989C>A
c.4854C>A (p.Ala1618=)
c.4539C>A (p.Ala1513=)
c.2436C>A (p.Ala812=)
c.4878C>A (p.Ala1626=)
c.4869C>A (p.Ala1623=)
c.4860C>A (p.Ala1620=)
c.3198C>A (p.Ala1066=)
Xg.108695308C>GCA517926086COL4A5c.4863C>G (p.Ala1621=)
c.4845C>G (p.Ala1615=)
n.1357C>G
n.1694C>G
c.219+387C>G (n.219+387C>G)
c.325-989C>G
c.4854C>G (p.Ala1618=)
c.4539C>G (p.Ala1513=)
c.2436C>G (p.Ala812=)
c.4878C>G (p.Ala1626=)
c.4869C>G (p.Ala1623=)
c.4860C>G (p.Ala1620=)
c.3198C>G (p.Ala1066=)
Xg.108695308C>TCA517926087COL4A5c.4863C>T (p.Ala1621=)
c.4845C>T (p.Ala1615=)
n.1357C>T
n.1694C>T
c.219+387C>T (n.219+387C>T)
c.325-989C>T
c.4854C>T (p.Ala1618=)
c.4539C>T (p.Ala1513=)
c.2436C>T (p.Ala812=)
c.4878C>T (p.Ala1626=)
c.4869C>T (p.Ala1623=)
c.4860C>T (p.Ala1620=)
c.3198C>T (p.Ala1066=)
Xg.108695309T>ACA414132725COL4A5c.4864T>A (p.Ser1622Thr)
c.4846T>A (p.Ser1616Thr)
n.1358T>A
n.1695T>A
c.219+388T>A (n.219+388T>A)
c.325-988T>A
c.4855T>A (p.Ser1619Thr)
c.4540T>A (p.Ser1514Thr)
c.2437T>A (p.Ser813Thr)
c.4879T>A (p.Ser1627Thr)
c.4870T>A (p.Ser1624Thr)
c.4861T>A (p.Ser1621Thr)
c.3199T>A (p.Ser1067Thr)
Xg.108695309T>CCA414132724COL4A5c.4864T>C (p.Ser1622Pro)
c.4846T>C (p.Ser1616Pro)
n.1358T>C
n.1695T>C
c.219+388T>C (n.219+388T>C)
c.325-988T>C
c.4855T>C (p.Ser1619Pro)
c.4540T>C (p.Ser1514Pro)
c.2437T>C (p.Ser813Pro)
c.4879T>C (p.Ser1627Pro)
c.4870T>C (p.Ser1624Pro)
c.4861T>C (p.Ser1621Pro)
c.3199T>C (p.Ser1067Pro)
Xg.108695309T>GCA414132726COL4A5c.4864T>G (p.Ser1622Ala)
c.4846T>G (p.Ser1616Ala)
n.1358T>G
n.1695T>G
c.219+388T>G (n.219+388T>G)
c.325-988T>G
c.4855T>G (p.Ser1619Ala)
c.4540T>G (p.Ser1514Ala)
c.2437T>G (p.Ser813Ala)
c.4879T>G (p.Ser1627Ala)
c.4870T>G (p.Ser1624Ala)
c.4861T>G (p.Ser1621Ala)
c.3199T>G (p.Ser1067Ala)
Xg.108695310C>ACA414132727COL4A5c.4865C>A (p.Ser1622Tyr)
c.4847C>A (p.Ser1616Tyr)
n.1359C>A
n.1696C>A
c.219+389C>A (n.219+389C>A)
c.325-987C>A
c.4856C>A (p.Ser1619Tyr)
c.4541C>A (p.Ser1514Tyr)
c.2438C>A (p.Ser813Tyr)
c.4880C>A (p.Ser1627Tyr)
c.4871C>A (p.Ser1624Tyr)
c.4862C>A (p.Ser1621Tyr)
c.3200C>A (p.Ser1067Tyr)
Xg.108695310C=CA2450721737COL4A5c.4865C= (p.Ser1622=)
c.4847C= (p.Ser1616=)
n.1359C=
n.1696C=
c.219+389C= (n.219+389C=)
c.325-987C=
c.4856C= (p.Ser1619=)
c.4541C= (p.Ser1514=)
c.2438C= (p.Ser813=)
c.4880C= (p.Ser1627=)
c.4871C= (p.Ser1624=)
c.4862C= (p.Ser1621=)
c.3200C= (p.Ser1067=)
Xg.108695310C>GCA414132728COL4A5c.4865C>G (p.Ser1622Cys)
c.4847C>G (p.Ser1616Cys)
n.1359C>G
n.1696C>G
c.219+389C>G (n.219+389C>G)
c.325-987C>G
c.4856C>G (p.Ser1619Cys)
c.4541C>G (p.Ser1514Cys)
c.2438C>G (p.Ser813Cys)
c.4880C>G (p.Ser1627Cys)
c.4871C>G (p.Ser1624Cys)
c.4862C>G (p.Ser1621Cys)
c.3200C>G (p.Ser1067Cys)
Xg.108695310C>TCA10489440COL4A5c.4865C>T (p.Ser1622Phe)
c.4847C>T (p.Ser1616Phe)
n.1359C>T
n.1696C>T
c.219+389C>T (n.219+389C>T)
c.325-987C>T
c.4856C>T (p.Ser1619Phe)
c.4541C>T (p.Ser1514Phe)
c.2438C>T (p.Ser813Phe)
c.4880C>T (p.Ser1627Phe)
c.4871C>T (p.Ser1624Phe)
c.4862C>T (p.Ser1621Phe)
c.3200C>T (p.Ser1067Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108695311C>ACA517926088COL4A5c.4866C>A (p.Ser1622=)
c.4848C>A (p.Ser1616=)
n.1360C>A
n.1697C>A
c.219+390C>A (n.219+390C>A)
c.325-986C>A
c.4857C>A (p.Ser1619=)
c.4542C>A (p.Ser1514=)
c.2439C>A (p.Ser813=)
c.4881C>A (p.Ser1627=)
c.4872C>A (p.Ser1624=)
c.4863C>A (p.Ser1621=)
c.3201C>A (p.Ser1067=)
Xg.108695311C=CA2450721738COL4A5c.4866C= (p.Ser1622=)
c.4848C= (p.Ser1616=)
n.1360C=
n.1697C=
c.219+390C= (n.219+390C=)
c.325-986C=
c.4857C= (p.Ser1619=)
c.4542C= (p.Ser1514=)
c.2439C= (p.Ser813=)
c.4881C= (p.Ser1627=)
c.4872C= (p.Ser1624=)
c.4863C= (p.Ser1621=)
c.3201C= (p.Ser1067=)
Xg.108695311C>GCA517926089COL4A5c.4866C>G (p.Ser1622=)
c.4848C>G (p.Ser1616=)
n.1360C>G
n.1697C>G
c.219+390C>G (n.219+390C>G)
c.325-986C>G
c.4857C>G (p.Ser1619=)
c.4542C>G (p.Ser1514=)
c.2439C>G (p.Ser813=)
c.4881C>G (p.Ser1627=)
c.4872C>G (p.Ser1624=)
c.4863C>G (p.Ser1621=)
c.3201C>G (p.Ser1067=)
Xg.108695311C>TCA334063292COL4A5c.4866C>T (p.Ser1622=)
c.4848C>T (p.Ser1616=)
n.1360C>T
n.1697C>T
c.219+390C>T (n.219+390C>T)
c.325-986C>T
c.4857C>T (p.Ser1619=)
c.4542C>T (p.Ser1514=)
c.2439C>T (p.Ser813=)
c.4881C>T (p.Ser1627=)
c.4872C>T (p.Ser1624=)
c.4863C>T (p.Ser1621=)
c.3201C>T (p.Ser1067=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108695312C>ACA414132730COL4A5c.4867C>A (p.Pro1623Thr)
c.4849C>A (p.Pro1617Thr)
n.1361C>A
n.1698C>A
c.219+391C>A (n.219+391C>A)
c.325-985C>A
c.4858C>A (p.Pro1620Thr)
c.4543C>A (p.Pro1515Thr)
c.2440C>A (p.Pro814Thr)
c.4882C>A (p.Pro1628Thr)
c.4873C>A (p.Pro1625Thr)
c.4864C>A (p.Pro1622Thr)
c.3202C>A (p.Pro1068Thr)
Xg.108695312C=CA2450721739COL4A5c.4867C= (p.Pro1623=)
c.4849C= (p.Pro1617=)
n.1361C=
n.1698C=
c.219+391C= (n.219+391C=)
c.325-985C=
c.4858C= (p.Pro1620=)
c.4543C= (p.Pro1515=)
c.2440C= (p.Pro814=)
c.4882C= (p.Pro1628=)
c.4873C= (p.Pro1625=)
c.4864C= (p.Pro1622=)
c.3202C= (p.Pro1068=)
Xg.108695312C>GCA414132729COL4A5c.4867C>G (p.Pro1623Ala)
c.4849C>G (p.Pro1617Ala)
n.1361C>G
n.1698C>G
c.219+391C>G (n.219+391C>G)
c.325-985C>G
c.4858C>G (p.Pro1620Ala)
c.4543C>G (p.Pro1515Ala)
c.2440C>G (p.Pro814Ala)
c.4882C>G (p.Pro1628Ala)
c.4873C>G (p.Pro1625Ala)
c.4864C>G (p.Pro1622Ala)
c.3202C>G (p.Pro1068Ala)
Xg.108695312C>TCA10489441COL4A5c.4867C>T (p.Pro1623Ser)
c.4849C>T (p.Pro1617Ser)
n.1361C>T
n.1698C>T
c.219+391C>T (n.219+391C>T)
c.325-985C>T
c.4858C>T (p.Pro1620Ser)
c.4543C>T (p.Pro1515Ser)
c.2440C>T (p.Pro814Ser)
c.4882C>T (p.Pro1628Ser)
c.4873C>T (p.Pro1625Ser)
c.4864C>T (p.Pro1622Ser)
c.3202C>T (p.Pro1068Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108695313C>ACA414132731COL4A5c.4868C>A (p.Pro1623His)
c.4850C>A (p.Pro1617His)
n.1362C>A
n.1699C>A
c.219+392C>A (n.219+392C>A)
c.325-984C>A
c.4859C>A (p.Pro1620His)
c.4544C>A (p.Pro1515His)
c.2441C>A (p.Pro814His)
c.4883C>A (p.Pro1628His)
c.4874C>A (p.Pro1625His)
c.4865C>A (p.Pro1622His)
c.3203C>A (p.Pro1068His)
Xg.108695313C>GCA414132732COL4A5c.4868C>G (p.Pro1623Arg)
c.4850C>G (p.Pro1617Arg)
n.1362C>G
n.1699C>G
c.219+392C>G (n.219+392C>G)
c.325-984C>G
c.4859C>G (p.Pro1620Arg)
c.4544C>G (p.Pro1515Arg)
c.2441C>G (p.Pro814Arg)
c.4883C>G (p.Pro1628Arg)
c.4874C>G (p.Pro1625Arg)
c.4865C>G (p.Pro1622Arg)
c.3203C>G (p.Pro1068Arg)
Xg.108695313C>TCA414132733COL4A5c.4868C>T (p.Pro1623Leu)
c.4850C>T (p.Pro1617Leu)
n.1362C>T
n.1699C>T
c.219+392C>T (n.219+392C>T)
c.325-984C>T
c.4859C>T (p.Pro1620Leu)
c.4544C>T (p.Pro1515Leu)
c.2441C>T (p.Pro814Leu)
c.4883C>T (p.Pro1628Leu)
c.4874C>T (p.Pro1625Leu)
c.4865C>T (p.Pro1622Leu)
c.3203C>T (p.Pro1068Leu)
Xg.108695314T>ACA517926090COL4A5c.4869T>A (p.Pro1623=)
c.4851T>A (p.Pro1617=)
n.1363T>A
n.1700T>A
c.219+393T>A (n.219+393T>A)
c.325-983T>A
c.4860T>A (p.Pro1620=)
c.4545T>A (p.Pro1515=)
c.2442T>A (p.Pro814=)
c.4884T>A (p.Pro1628=)
c.4875T>A (p.Pro1625=)
c.4866T>A (p.Pro1622=)
c.3204T>A (p.Pro1068=)
Xg.108695314T>CCA517926091COL4A5c.4869T>C (p.Pro1623=)
c.4851T>C (p.Pro1617=)
n.1363T>C
n.1700T>C
c.219+393T>C (n.219+393T>C)
c.325-983T>C
c.4860T>C (p.Pro1620=)
c.4545T>C (p.Pro1515=)
c.2442T>C (p.Pro814=)
c.4884T>C (p.Pro1628=)
c.4875T>C (p.Pro1625=)
c.4866T>C (p.Pro1622=)
c.3204T>C (p.Pro1068=)
 dbSNP
Xg.108695314T>GCA517926092COL4A5c.4869T>G (p.Pro1623=)
c.4851T>G (p.Pro1617=)
n.1363T>G
n.1700T>G
c.219+393T>G (n.219+393T>G)
c.325-983T>G
c.4860T>G (p.Pro1620=)
c.4545T>G (p.Pro1515=)
c.2442T>G (p.Pro814=)
c.4884T>G (p.Pro1628=)
c.4875T>G (p.Pro1625=)
c.4866T>G (p.Pro1622=)
c.3204T>G (p.Pro1068=)
Xg.108695314T=CA2450721740COL4A5c.4869T= (p.Pro1623=)
c.4851T= (p.Pro1617=)
n.1363T=
n.1700T=
c.219+393T= (n.219+393T=)
c.325-983T=
c.4860T= (p.Pro1620=)
c.4545T= (p.Pro1515=)
c.2442T= (p.Pro814=)
c.4884T= (p.Pro1628=)
c.4875T= (p.Pro1625=)
c.4866T= (p.Pro1622=)
c.3204T= (p.Pro1068=)
Xg.108695315G>ACA414132734COL4A5c.4870G>A (p.Gly1624Ser)
c.4852G>A (p.Gly1618Ser)
n.1364G>A
n.1701G>A
c.219+394G>A (n.219+394G>A)
c.325-982G>A
c.4861G>A (p.Gly1621Ser)
c.4546G>A (p.Gly1516Ser)
c.2443G>A (p.Gly815Ser)
c.4885G>A (p.Gly1629Ser)
c.4876G>A (p.Gly1626Ser)
c.4867G>A (p.Gly1623Ser)
c.3205G>A (p.Gly1069Ser)
Xg.108695315G>CCA414132735COL4A5c.4870G>C (p.Gly1624Arg)
c.4852G>C (p.Gly1618Arg)
n.1364G>C
n.1701G>C
c.219+394G>C (n.219+394G>C)
c.325-982G>C
c.4861G>C (p.Gly1621Arg)
c.4546G>C (p.Gly1516Arg)
c.2443G>C (p.Gly815Arg)
c.4885G>C (p.Gly1629Arg)
c.4876G>C (p.Gly1626Arg)
c.4867G>C (p.Gly1623Arg)
c.3205G>C (p.Gly1069Arg)
Xg.108695315G>TCA414132736COL4A5c.4870G>T (p.Gly1624Cys)
c.4852G>T (p.Gly1618Cys)
n.1364G>T
n.1701G>T
c.219+394G>T (n.219+394G>T)
c.325-982G>T
c.4861G>T (p.Gly1621Cys)
c.4546G>T (p.Gly1516Cys)
c.2443G>T (p.Gly815Cys)
c.4885G>T (p.Gly1629Cys)
c.4876G>T (p.Gly1626Cys)
c.4867G>T (p.Gly1623Cys)
c.3205G>T (p.Gly1069Cys)
Xg.108695316delCA2580100250COL4A5c.4871del (p.Gly1624ValfsTer?)
c.4853del (p.Gly1618ValfsTer?)
n.1365del
n.1702del
c.219+395del (n.219+395del)
c.325-981del
c.4862del (p.Gly1621ValfsTer?)
c.4547del (p.Gly1516ValfsTer?)
c.2444del (p.Gly815ValfsTer?)
c.4886del (p.Gly1629ValfsTer?)
c.4877del (p.Gly1626ValfsTer?)
c.4868del (p.Gly1623ValfsTer?)
c.3206del (p.Gly1069ValfsTer?)
 ClinVar
Xg.108695316G>ACA414132737COL4A5c.4871G>A (p.Gly1624Asp)
c.4853G>A (p.Gly1618Asp)
n.1365G>A
n.1702G>A
c.219+395G>A (n.219+395G>A)
c.325-981G>A
c.4862G>A (p.Gly1621Asp)
c.4547G>A (p.Gly1516Asp)
c.2444G>A (p.Gly815Asp)
c.4886G>A (p.Gly1629Asp)
c.4877G>A (p.Gly1626Asp)
c.4868G>A (p.Gly1623Asp)
c.3206G>A (p.Gly1069Asp)
Xg.108695316G>CCA414132738COL4A5c.4871G>C (p.Gly1624Ala)
c.4853G>C (p.Gly1618Ala)
n.1365G>C
n.1702G>C
c.219+395G>C (n.219+395G>C)
c.325-981G>C
c.4862G>C (p.Gly1621Ala)
c.4547G>C (p.Gly1516Ala)
c.2444G>C (p.Gly815Ala)
c.4886G>C (p.Gly1629Ala)
c.4877G>C (p.Gly1626Ala)
c.4868G>C (p.Gly1623Ala)
c.3206G>C (p.Gly1069Ala)
 dbSNP gnomAD v4
Xg.108695316G=CA2450721741COL4A5c.4871G= (p.Gly1624=)
c.4853G= (p.Gly1618=)
n.1365G=
n.1702G=
c.219+395G= (n.219+395G=)
c.325-981G=
c.4862G= (p.Gly1621=)
c.4547G= (p.Gly1516=)
c.2444G= (p.Gly815=)
c.4886G= (p.Gly1629=)
c.4877G= (p.Gly1626=)
c.4868G= (p.Gly1623=)
c.3206G= (p.Gly1069=)
Xg.108695316G>TCA414132739COL4A5c.4871G>T (p.Gly1624Val)
c.4853G>T (p.Gly1618Val)
n.1365G>T
n.1702G>T
c.219+395G>T (n.219+395G>T)
c.325-981G>T
c.4862G>T (p.Gly1621Val)
c.4547G>T (p.Gly1516Val)
c.2444G>T (p.Gly815Val)
c.4886G>T (p.Gly1629Val)
c.4877G>T (p.Gly1626Val)
c.4868G>T (p.Gly1623Val)
c.3206G>T (p.Gly1069Val)
 gnomAD v4
Xg.108695317T>ACA517926093COL4A5c.4872T>A (p.Gly1624=)
c.4854T>A (p.Gly1618=)
n.1366T>A
n.1703T>A
c.219+396T>A (n.219+396T>A)
c.325-980T>A
c.4863T>A (p.Gly1621=)
c.4548T>A (p.Gly1516=)
c.2445T>A (p.Gly815=)
c.4887T>A (p.Gly1629=)
c.4878T>A (p.Gly1626=)
c.4869T>A (p.Gly1623=)
c.3207T>A (p.Gly1069=)
Xg.108695317T>CCA517926094COL4A5c.4872T>C (p.Gly1624=)
c.4854T>C (p.Gly1618=)
n.1366T>C
n.1703T>C
c.219+396T>C (n.219+396T>C)
c.325-980T>C
c.4863T>C (p.Gly1621=)
c.4548T>C (p.Gly1516=)
c.2445T>C (p.Gly815=)
c.4887T>C (p.Gly1629=)
c.4878T>C (p.Gly1626=)
c.4869T>C (p.Gly1623=)
c.3207T>C (p.Gly1069=)
Xg.108695317T>GCA517926095COL4A5c.4872T>G (p.Gly1624=)
c.4854T>G (p.Gly1618=)
n.1366T>G
n.1703T>G
c.219+396T>G (n.219+396T>G)
c.325-980T>G
c.4863T>G (p.Gly1621=)
c.4548T>G (p.Gly1516=)
c.2445T>G (p.Gly815=)
c.4887T>G (p.Gly1629=)
c.4878T>G (p.Gly1626=)
c.4869T>G (p.Gly1623=)
c.3207T>G (p.Gly1069=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108695317T=CA2450721742COL4A5c.4872T= (p.Gly1624=)
c.4854T= (p.Gly1618=)
n.1366T=
n.1703T=
c.219+396T= (n.219+396T=)
c.325-980T=
c.4863T= (p.Gly1621=)
c.4548T= (p.Gly1516=)
c.2445T= (p.Gly815=)
c.4887T= (p.Gly1629=)
c.4878T= (p.Gly1626=)
c.4869T= (p.Gly1623=)
c.3207T= (p.Gly1069=)
Xg.108695318T>ACA414132740COL4A5c.4873T>A (p.Ser1625Thr)
c.4855T>A (p.Ser1619Thr)
n.1367T>A
n.1704T>A
c.219+397T>A (n.219+397T>A)
c.325-979T>A
c.4864T>A (p.Ser1622Thr)
c.4549T>A (p.Ser1517Thr)
c.2446T>A (p.Ser816Thr)
c.4888T>A (p.Ser1630Thr)
c.4879T>A (p.Ser1627Thr)
c.4870T>A (p.Ser1624Thr)
c.3208T>A (p.Ser1070Thr)
Xg.108695318T>CCA414132741COL4A5c.4873T>C (p.Ser1625Pro)
c.4855T>C (p.Ser1619Pro)
n.1367T>C
n.1704T>C
c.219+397T>C (n.219+397T>C)
c.325-979T>C
c.4864T>C (p.Ser1622Pro)
c.4549T>C (p.Ser1517Pro)
c.2446T>C (p.Ser816Pro)
c.4888T>C (p.Ser1630Pro)
c.4879T>C (p.Ser1627Pro)
c.4870T>C (p.Ser1624Pro)
c.3208T>C (p.Ser1070Pro)
Xg.108695318T>GCA414132742COL4A5c.4873T>G (p.Ser1625Ala)
c.4855T>G (p.Ser1619Ala)
n.1367T>G
n.1704T>G
c.219+397T>G (n.219+397T>G)
c.325-979T>G
c.4864T>G (p.Ser1622Ala)
c.4549T>G (p.Ser1517Ala)
c.2446T>G (p.Ser816Ala)
c.4888T>G (p.Ser1630Ala)
c.4879T>G (p.Ser1627Ala)
c.4870T>G (p.Ser1624Ala)
c.3208T>G (p.Ser1070Ala)
Xg.108695319C>ACA414132745COL4A5c.4874C>A (p.Ser1625Tyr)
c.4856C>A (p.Ser1619Tyr)
n.1368C>A
n.1705C>A
c.219+398C>A (n.219+398C>A)
c.325-978C>A
c.4865C>A (p.Ser1622Tyr)
c.4550C>A (p.Ser1517Tyr)
c.2447C>A (p.Ser816Tyr)
c.4889C>A (p.Ser1630Tyr)
c.4880C>A (p.Ser1627Tyr)
c.4871C>A (p.Ser1624Tyr)
c.3209C>A (p.Ser1070Tyr)
Xg.108695319C>GCA414132743COL4A5c.4874C>G (p.Ser1625Cys)
c.4856C>G (p.Ser1619Cys)
n.1368C>G
n.1705C>G
c.219+398C>G (n.219+398C>G)
c.325-978C>G
c.4865C>G (p.Ser1622Cys)
c.4550C>G (p.Ser1517Cys)
c.2447C>G (p.Ser816Cys)
c.4889C>G (p.Ser1630Cys)
c.4880C>G (p.Ser1627Cys)
c.4871C>G (p.Ser1624Cys)
c.3209C>G (p.Ser1070Cys)
Xg.108695319C>TCA414132744COL4A5c.4874C>T (p.Ser1625Phe)
c.4856C>T (p.Ser1619Phe)
n.1368C>T
n.1705C>T
c.219+398C>T (n.219+398C>T)
c.325-978C>T
c.4865C>T (p.Ser1622Phe)
c.4550C>T (p.Ser1517Phe)
c.2447C>T (p.Ser816Phe)
c.4889C>T (p.Ser1630Phe)
c.4880C>T (p.Ser1627Phe)
c.4871C>T (p.Ser1624Phe)
c.3209C>T (p.Ser1070Phe)
Xg.108695320C>ACA517926096COL4A5c.4875C>A (p.Ser1625=)
c.4857C>A (p.Ser1619=)
n.1369C>A
n.1706C>A
c.219+399C>A (n.219+399C>A)
c.325-977C>A
c.4866C>A (p.Ser1622=)
c.4551C>A (p.Ser1517=)
c.2448C>A (p.Ser816=)
c.4890C>A (p.Ser1630=)
c.4881C>A (p.Ser1627=)
c.4872C>A (p.Ser1624=)
c.3210C>A (p.Ser1070=)
Xg.108695320C>GCA517926097COL4A5c.4875C>G (p.Ser1625=)
c.4857C>G (p.Ser1619=)
n.1369C>G
n.1706C>G
c.219+399C>G (n.219+399C>G)
c.325-977C>G
c.4866C>G (p.Ser1622=)
c.4551C>G (p.Ser1517=)
c.2448C>G (p.Ser816=)
c.4890C>G (p.Ser1630=)
c.4881C>G (p.Ser1627=)
c.4872C>G (p.Ser1624=)
c.3210C>G (p.Ser1070=)
Xg.108695320C>TCA517926098COL4A5c.4875C>T (p.Ser1625=)
c.4857C>T (p.Ser1619=)
n.1369C>T
n.1706C>T
c.219+399C>T (n.219+399C>T)
c.325-977C>T
c.4866C>T (p.Ser1622=)
c.4551C>T (p.Ser1517=)
c.2448C>T (p.Ser816=)
c.4890C>T (p.Ser1630=)
c.4881C>T (p.Ser1627=)
c.4872C>T (p.Ser1624=)
c.3210C>T (p.Ser1070=)
 ClinVar dbSNP
Xg.108695321T>ACA414132746COL4A5c.4876T>A (p.Cys1626Ser)
c.4858T>A (p.Cys1620Ser)
n.1370T>A
n.1707T>A
c.219+400T>A (n.219+400T>A)
c.325-976T>A
c.4867T>A (p.Cys1623Ser)
c.4552T>A (p.Cys1518Ser)
c.2449T>A (p.Cys817Ser)
c.4891T>A (p.Cys1631Ser)
c.4882T>A (p.Cys1628Ser)
c.4873T>A (p.Cys1625Ser)
c.3211T>A (p.Cys1071Ser)
 ClinVar dbSNP
Xg.108695321T>CCA414132747COL4A5c.4876T>C (p.Cys1626Arg)
c.4858T>C (p.Cys1620Arg)
n.1370T>C
n.1707T>C
c.219+400T>C (n.219+400T>C)
c.325-976T>C
c.4867T>C (p.Cys1623Arg)
c.4552T>C (p.Cys1518Arg)
c.2449T>C (p.Cys817Arg)
c.4891T>C (p.Cys1631Arg)
c.4882T>C (p.Cys1628Arg)
c.4873T>C (p.Cys1625Arg)
c.3211T>C (p.Cys1071Arg)
Xg.108695321T>GCA414132748COL4A5c.4876T>G (p.Cys1626Gly)
c.4858T>G (p.Cys1620Gly)
n.1370T>G
n.1707T>G
c.219+400T>G (n.219+400T>G)
c.325-976T>G
c.4867T>G (p.Cys1623Gly)
c.4552T>G (p.Cys1518Gly)
c.2449T>G (p.Cys817Gly)
c.4891T>G (p.Cys1631Gly)
c.4882T>G (p.Cys1628Gly)
c.4873T>G (p.Cys1625Gly)
c.3211T>G (p.Cys1071Gly)
Xg.108695321T=CA2450721743COL4A5c.4876T= (p.Cys1626=)
c.4858T= (p.Cys1620=)
n.1370T=
n.1707T=
c.219+400T= (n.219+400T=)
c.325-976T=
c.4867T= (p.Cys1623=)
c.4552T= (p.Cys1518=)
c.2449T= (p.Cys817=)
c.4891T= (p.Cys1631=)
c.4882T= (p.Cys1628=)
c.4873T= (p.Cys1625=)
c.3211T= (p.Cys1071=)
Xg.108695322G>ACA414132749COL4A5c.4877G>A (p.Cys1626Tyr)
c.4859G>A (p.Cys1620Tyr)
n.1371G>A
n.1708G>A
c.219+401G>A (n.219+401G>A)
c.325-975G>A
c.4868G>A (p.Cys1623Tyr)
c.4553G>A (p.Cys1518Tyr)
c.2450G>A (p.Cys817Tyr)
c.4892G>A (p.Cys1631Tyr)
c.4883G>A (p.Cys1628Tyr)
c.4874G>A (p.Cys1625Tyr)
c.3212G>A (p.Cys1071Tyr)
 ClinVar
Xg.108695322G>CCA414132750COL4A5c.4877G>C (p.Cys1626Ser)
c.4859G>C (p.Cys1620Ser)
n.1371G>C
n.1708G>C
c.219+401G>C (n.219+401G>C)
c.325-975G>C
c.4868G>C (p.Cys1623Ser)
c.4553G>C (p.Cys1518Ser)
c.2450G>C (p.Cys817Ser)
c.4892G>C (p.Cys1631Ser)
c.4883G>C (p.Cys1628Ser)
c.4874G>C (p.Cys1625Ser)
c.3212G>C (p.Cys1071Ser)
Xg.108695322G>TCA414132751COL4A5c.4877G>T (p.Cys1626Phe)
c.4859G>T (p.Cys1620Phe)
n.1371G>T
n.1708G>T
c.219+401G>T (n.219+401G>T)
c.325-975G>T
c.4868G>T (p.Cys1623Phe)
c.4553G>T (p.Cys1518Phe)
c.2450G>T (p.Cys817Phe)
c.4892G>T (p.Cys1631Phe)
c.4883G>T (p.Cys1628Phe)
c.4874G>T (p.Cys1625Phe)
c.3212G>T (p.Cys1071Phe)
Xg.108695323C>ACA414132752COL4A5c.4878C>A (p.Cys1626Ter)
c.4860C>A (p.Cys1620Ter)
n.1372C>A
n.1709C>A
c.219+402C>A (n.219+402C>A)
c.325-974C>A
c.4869C>A (p.Cys1623Ter)
c.4554C>A (p.Cys1518Ter)
c.2451C>A (p.Cys817Ter)
c.4893C>A (p.Cys1631Ter)
c.4884C>A (p.Cys1628Ter)
c.4875C>A (p.Cys1625Ter)
c.3213C>A (p.Cys1071Ter)
Xg.108695323C>GCA414132753COL4A5c.4878C>G (p.Cys1626Trp)
c.4860C>G (p.Cys1620Trp)
n.1372C>G
n.1709C>G
c.219+402C>G (n.219+402C>G)
c.325-974C>G
c.4869C>G (p.Cys1623Trp)
c.4554C>G (p.Cys1518Trp)
c.2451C>G (p.Cys817Trp)
c.4893C>G (p.Cys1631Trp)
c.4884C>G (p.Cys1628Trp)
c.4875C>G (p.Cys1625Trp)
c.3213C>G (p.Cys1071Trp)
Xg.108695323C>TCA517926099COL4A5c.4878C>T (p.Cys1626=)
c.4860C>T (p.Cys1620=)
n.1372C>T
n.1709C>T
c.219+402C>T (n.219+402C>T)
c.325-974C>T
c.4869C>T (p.Cys1623=)
c.4554C>T (p.Cys1518=)
c.2451C>T (p.Cys817=)
c.4893C>T (p.Cys1631=)
c.4884C>T (p.Cys1628=)
c.4875C>T (p.Cys1625=)
c.3213C>T (p.Cys1071=)
Xg.108695324T>ACA414132754COL4A5c.4879T>A (p.Leu1627Met)
c.4861T>A (p.Leu1621Met)
n.1373T>A
n.1710T>A
c.219+403T>A (n.219+403T>A)
c.325-973T>A
c.4870T>A (p.Leu1624Met)
c.4555T>A (p.Leu1519Met)
c.2452T>A (p.Leu818Met)
c.4894T>A (p.Leu1632Met)
c.4885T>A (p.Leu1629Met)
c.4876T>A (p.Leu1626Met)
c.3214T>A (p.Leu1072Met)
Xg.108695324T>CCA517926100COL4A5c.4879T>C (p.Leu1627=)
c.4861T>C (p.Leu1621=)
n.1373T>C
n.1710T>C
c.219+403T>C (n.219+403T>C)
c.325-973T>C
c.4870T>C (p.Leu1624=)
c.4555T>C (p.Leu1519=)
c.2452T>C (p.Leu818=)
c.4894T>C (p.Leu1632=)
c.4885T>C (p.Leu1629=)
c.4876T>C (p.Leu1626=)
c.3214T>C (p.Leu1072=)
Xg.108695324T>GCA414132755COL4A5c.4879T>G (p.Leu1627Val)
c.4861T>G (p.Leu1621Val)
n.1373T>G
n.1710T>G
c.219+403T>G (n.219+403T>G)
c.325-973T>G
c.4870T>G (p.Leu1624Val)
c.4555T>G (p.Leu1519Val)
c.2452T>G (p.Leu818Val)
c.4894T>G (p.Leu1632Val)
c.4885T>G (p.Leu1629Val)
c.4876T>G (p.Leu1626Val)
c.3214T>G (p.Leu1072Val)
Xg.108695325T>ACA414132758COL4A5c.4880T>A (p.Leu1627Ter)
c.4862T>A (p.Leu1621Ter)
n.1374T>A
n.1711T>A
c.219+404T>A (n.219+404T>A)
c.325-972T>A
c.4871T>A (p.Leu1624Ter)
c.4556T>A (p.Leu1519Ter)
c.2453T>A (p.Leu818Ter)
c.4895T>A (p.Leu1632Ter)
c.4886T>A (p.Leu1629Ter)
c.4877T>A (p.Leu1626Ter)
c.3215T>A (p.Leu1072Ter)
Xg.108695325T>CCA414132757COL4A5c.4880T>C (p.Leu1627Ser)
c.4862T>C (p.Leu1621Ser)
n.1374T>C
n.1711T>C
c.219+404T>C (n.219+404T>C)
c.325-972T>C
c.4871T>C (p.Leu1624Ser)
c.4556T>C (p.Leu1519Ser)
c.2453T>C (p.Leu818Ser)
c.4895T>C (p.Leu1632Ser)
c.4886T>C (p.Leu1629Ser)
c.4877T>C (p.Leu1626Ser)
c.3215T>C (p.Leu1072Ser)
Xg.108695325T>GCA414132756COL4A5c.4880T>G (p.Leu1627Trp)
c.4862T>G (p.Leu1621Trp)
n.1374T>G
n.1711T>G
c.219+404T>G (n.219+404T>G)
c.325-972T>G
c.4871T>G (p.Leu1624Trp)
c.4556T>G (p.Leu1519Trp)
c.2453T>G (p.Leu818Trp)
c.4895T>G (p.Leu1632Trp)
c.4886T>G (p.Leu1629Trp)
c.4877T>G (p.Leu1626Trp)
c.3215T>G (p.Leu1072Trp)
Xg.108695325T=CA2450721744COL4A5c.4880T= (p.Leu1627=)
c.4862T= (p.Leu1621=)
n.1374T=
n.1711T=
c.219+404T= (n.219+404T=)
c.325-972T=
c.4871T= (p.Leu1624=)
c.4556T= (p.Leu1519=)
c.2453T= (p.Leu818=)
c.4895T= (p.Leu1632=)
c.4886T= (p.Leu1629=)
c.4877T= (p.Leu1626=)
c.3215T= (p.Leu1072=)
Xg.108695326G>ACA517926101COL4A5c.4881G>A (p.Leu1627=)
c.4863G>A (p.Leu1621=)
n.1375G>A
n.1712G>A
c.219+405G>A (n.219+405G>A)
c.325-971G>A
c.4872G>A (p.Leu1624=)
c.4557G>A (p.Leu1519=)
c.2454G>A (p.Leu818=)
c.4896G>A (p.Leu1632=)
c.4887G>A (p.Leu1629=)
c.4878G>A (p.Leu1626=)
c.3216G>A (p.Leu1072=)
Xg.108695326G>CCA414132759COL4A5c.4881G>C (p.Leu1627Phe)
c.4863G>C (p.Leu1621Phe)
n.1375G>C
n.1712G>C
c.219+405G>C (n.219+405G>C)
c.325-971G>C
c.4872G>C (p.Leu1624Phe)
c.4557G>C (p.Leu1519Phe)
c.2454G>C (p.Leu818Phe)
c.4896G>C (p.Leu1632Phe)
c.4887G>C (p.Leu1629Phe)
c.4878G>C (p.Leu1626Phe)
c.3216G>C (p.Leu1072Phe)
Xg.108695326G>TCA414132760COL4A5c.4881G>T (p.Leu1627Phe)
c.4863G>T (p.Leu1621Phe)
n.1375G>T
n.1712G>T
c.219+405G>T (n.219+405G>T)
c.325-971G>T
c.4872G>T (p.Leu1624Phe)
c.4557G>T (p.Leu1519Phe)
c.2454G>T (p.Leu818Phe)
c.4896G>T (p.Leu1632Phe)
c.4887G>T (p.Leu1629Phe)
c.4878G>T (p.Leu1626Phe)
c.3216G>T (p.Leu1072Phe)
Xg.108695327G>ACA414132761COL4A5c.4882G>A (p.Glu1628Lys)
c.4864G>A (p.Glu1622Lys)
n.1376G>A
n.1713G>A
c.219+406G>A (n.219+406G>A)
c.325-970G>A
c.4873G>A (p.Glu1625Lys)
c.4558G>A (p.Glu1520Lys)
c.2455G>A (p.Glu819Lys)
c.4897G>A (p.Glu1633Lys)
c.4888G>A (p.Glu1630Lys)
c.4879G>A (p.Glu1627Lys)
c.3217G>A (p.Glu1073Lys)
 COSMIC
Xg.108695327G>CCA414132762COL4A5c.4882G>C (p.Glu1628Gln)
c.4864G>C (p.Glu1622Gln)
n.1376G>C
n.1713G>C
c.219+406G>C (n.219+406G>C)
c.325-970G>C
c.4873G>C (p.Glu1625Gln)
c.4558G>C (p.Glu1520Gln)
c.2455G>C (p.Glu819Gln)
c.4897G>C (p.Glu1633Gln)
c.4888G>C (p.Glu1630Gln)
c.4879G>C (p.Glu1627Gln)
c.3217G>C (p.Glu1073Gln)
Xg.108695327G>TCA414132763COL4A5c.4882G>T (p.Glu1628Ter)
c.4864G>T (p.Glu1622Ter)
n.1376G>T
n.1713G>T
c.219+406G>T (n.219+406G>T)
c.325-970G>T
c.4873G>T (p.Glu1625Ter)
c.4558G>T (p.Glu1520Ter)
c.2455G>T (p.Glu819Ter)
c.4897G>T (p.Glu1633Ter)
c.4888G>T (p.Glu1630Ter)
c.4879G>T (p.Glu1627Ter)
c.3217G>T (p.Glu1073Ter)
Xg.108695328A>CCA414132764COL4A5c.4883A>C (p.Glu1628Ala)
c.4865A>C (p.Glu1622Ala)
n.1377A>C
n.1714A>C
c.219+407A>C (n.219+407A>C)
c.325-969A>C
c.4874A>C (p.Glu1625Ala)
c.4559A>C (p.Glu1520Ala)
c.2456A>C (p.Glu819Ala)
c.4898A>C (p.Glu1633Ala)
c.4889A>C (p.Glu1630Ala)
c.4880A>C (p.Glu1627Ala)
c.3218A>C (p.Glu1073Ala)
Xg.108695328A>GCA414132765COL4A5c.4883A>G (p.Glu1628Gly)
c.4865A>G (p.Glu1622Gly)
n.1377A>G
n.1714A>G
c.219+407A>G (n.219+407A>G)
c.325-969A>G
c.4874A>G (p.Glu1625Gly)
c.4559A>G (p.Glu1520Gly)
c.2456A>G (p.Glu819Gly)
c.4898A>G (p.Glu1633Gly)
c.4889A>G (p.Glu1630Gly)
c.4880A>G (p.Glu1627Gly)
c.3218A>G (p.Glu1073Gly)
Xg.108695328A>TCA414132766COL4A5c.4883A>T (p.Glu1628Val)
c.4865A>T (p.Glu1622Val)
n.1377A>T
n.1714A>T
c.219+407A>T (n.219+407A>T)
c.325-969A>T
c.4874A>T (p.Glu1625Val)
c.4559A>T (p.Glu1520Val)
c.2456A>T (p.Glu819Val)
c.4898A>T (p.Glu1633Val)
c.4889A>T (p.Glu1630Val)
c.4880A>T (p.Glu1627Val)
c.3218A>T (p.Glu1073Val)
Xg.108695329A>CCA414132767COL4A5c.4884A>C (p.Glu1628Asp)
c.4866A>C (p.Glu1622Asp)
n.1378A>C
n.1715A>C
c.219+408A>C (n.219+408A>C)
c.325-968A>C
c.4875A>C (p.Glu1625Asp)
c.4560A>C (p.Glu1520Asp)
c.2457A>C (p.Glu819Asp)
c.4899A>C (p.Glu1633Asp)
c.4890A>C (p.Glu1630Asp)
c.4881A>C (p.Glu1627Asp)
c.3219A>C (p.Glu1073Asp)
Xg.108695329A>GCA517926102COL4A5c.4884A>G (p.Glu1628=)
c.4866A>G (p.Glu1622=)
n.1378A>G
n.1715A>G
c.219+408A>G (n.219+408A>G)
c.325-968A>G
c.4875A>G (p.Glu1625=)
c.4560A>G (p.Glu1520=)
c.2457A>G (p.Glu819=)
c.4899A>G (p.Glu1633=)
c.4890A>G (p.Glu1630=)
c.4881A>G (p.Glu1627=)
c.3219A>G (p.Glu1073=)
Xg.108695329A>TCA414132768COL4A5c.4884A>T (p.Glu1628Asp)
c.4866A>T (p.Glu1622Asp)
n.1378A>T
n.1715A>T
c.219+408A>T (n.219+408A>T)
c.325-968A>T
c.4875A>T (p.Glu1625Asp)
c.4560A>T (p.Glu1520Asp)
c.2457A>T (p.Glu819Asp)
c.4899A>T (p.Glu1633Asp)
c.4890A>T (p.Glu1630Asp)
c.4881A>T (p.Glu1627Asp)
c.3219A>T (p.Glu1073Asp)
Xg.108695330G>ACA414132769COL4A5c.4885G>A (p.Glu1629Lys)
c.4867G>A (p.Glu1623Lys)
n.1379G>A
n.1716G>A
c.219+409G>A (n.219+409G>A)
c.325-967G>A
c.4876G>A (p.Glu1626Lys)
c.4561G>A (p.Glu1521Lys)
c.2458G>A (p.Glu820Lys)
c.4900G>A (p.Glu1634Lys)
c.4891G>A (p.Glu1631Lys)
c.4882G>A (p.Glu1628Lys)
c.3220G>A (p.Glu1074Lys)
 gnomAD v4
Xg.108695330G>CCA414132770COL4A5c.4885G>C (p.Glu1629Gln)
c.4867G>C (p.Glu1623Gln)
n.1379G>C
n.1716G>C
c.219+409G>C (n.219+409G>C)
c.325-967G>C
c.4876G>C (p.Glu1626Gln)
c.4561G>C (p.Glu1521Gln)
c.2458G>C (p.Glu820Gln)
c.4900G>C (p.Glu1634Gln)
c.4891G>C (p.Glu1631Gln)
c.4882G>C (p.Glu1628Gln)
c.3220G>C (p.Glu1074Gln)
Xg.108695330G>TCA414132771COL4A5c.4885G>T (p.Glu1629Ter)
c.4867G>T (p.Glu1623Ter)
n.1379G>T
n.1716G>T
c.219+409G>T (n.219+409G>T)
c.325-967G>T
c.4876G>T (p.Glu1626Ter)
c.4561G>T (p.Glu1521Ter)
c.2458G>T (p.Glu820Ter)
c.4900G>T (p.Glu1634Ter)
c.4891G>T (p.Glu1631Ter)
c.4882G>T (p.Glu1628Ter)
c.3220G>T (p.Glu1074Ter)
Xg.108695330_108695343dupCA2695235251COL4A5c.4885_4898dup (p.Pro1634SerfsTer30)
c.4867_4880dup (p.Pro1628SerfsTer30)
n.1379_1392dup
n.1716_1729dup
c.219+409_219+422dup (n.219+409_219+422dup)
c.325-967_325-954dup
c.4876_4889dup (p.Pro1631SerfsTer30)
c.4561_4574dup (p.Pro1526SerfsTer30)
c.2458_2471dup (p.Pro825SerfsTer30)
c.4900_4913dup (p.Pro1639SerfsTer30)
c.4891_4904dup (p.Pro1636SerfsTer30)
c.4882_4895dup (p.Pro1633SerfsTer30)
c.3220_3233dup (p.Pro1079SerfsTer30)
Xg.108695331A>CCA414132772COL4A5c.4886A>C (p.Glu1629Ala)
c.4868A>C (p.Glu1623Ala)
n.1380A>C
n.1717A>C
c.219+410A>C (n.219+410A>C)
c.325-966A>C
c.4877A>C (p.Glu1626Ala)
c.4562A>C (p.Glu1521Ala)
c.2459A>C (p.Glu820Ala)
c.4901A>C (p.Glu1634Ala)
c.4892A>C (p.Glu1631Ala)
c.4883A>C (p.Glu1628Ala)
c.3221A>C (p.Glu1074Ala)
Xg.108695331A>GCA414132774COL4A5c.4886A>G (p.Glu1629Gly)
c.4868A>G (p.Glu1623Gly)
n.1380A>G
n.1717A>G
c.219+410A>G (n.219+410A>G)
c.325-966A>G
c.4877A>G (p.Glu1626Gly)
c.4562A>G (p.Glu1521Gly)
c.2459A>G (p.Glu820Gly)
c.4901A>G (p.Glu1634Gly)
c.4892A>G (p.Glu1631Gly)
c.4883A>G (p.Glu1628Gly)
c.3221A>G (p.Glu1074Gly)
Xg.108695331A>TCA414132773COL4A5c.4886A>T (p.Glu1629Val)
c.4868A>T (p.Glu1623Val)
n.1380A>T
n.1717A>T
c.219+410A>T (n.219+410A>T)
c.325-966A>T
c.4877A>T (p.Glu1626Val)
c.4562A>T (p.Glu1521Val)
c.2459A>T (p.Glu820Val)
c.4901A>T (p.Glu1634Val)
c.4892A>T (p.Glu1631Val)
c.4883A>T (p.Glu1628Val)
c.3221A>T (p.Glu1074Val)
Xg.108695332G>ACA517926103COL4A5c.4887G>A (p.Glu1629=)
c.4869G>A (p.Glu1623=)
n.1381G>A
n.1718G>A
c.219+411G>A (n.219+411G>A)
c.325-965G>A
c.4878G>A (p.Glu1626=)
c.4563G>A (p.Glu1521=)
c.2460G>A (p.Glu820=)
c.4902G>A (p.Glu1634=)
c.4893G>A (p.Glu1631=)
c.4884G>A (p.Glu1628=)
c.3222G>A (p.Glu1074=)
 ClinVar dbSNP gnomAD v4
Xg.108695332G>CCA414132775COL4A5c.4887G>C (p.Glu1629Asp)
c.4869G>C (p.Glu1623Asp)
n.1381G>C
n.1718G>C
c.219+411G>C (n.219+411G>C)
c.325-965G>C
c.4878G>C (p.Glu1626Asp)
c.4563G>C (p.Glu1521Asp)
c.2460G>C (p.Glu820Asp)
c.4902G>C (p.Glu1634Asp)
c.4893G>C (p.Glu1631Asp)
c.4884G>C (p.Glu1628Asp)
c.3222G>C (p.Glu1074Asp)
Xg.108695332G=CA2450721745COL4A5c.4887G= (p.Glu1629=)
c.4869G= (p.Glu1623=)
n.1381G=
n.1718G=
c.219+411G= (n.219+411G=)
c.325-965G=
c.4878G= (p.Glu1626=)
c.4563G= (p.Glu1521=)
c.2460G= (p.Glu820=)
c.4902G= (p.Glu1634=)
c.4893G= (p.Glu1631=)
c.4884G= (p.Glu1628=)
c.3222G= (p.Glu1074=)
Xg.108695332G>TCA414132776COL4A5c.4887G>T (p.Glu1629Asp)
c.4869G>T (p.Glu1623Asp)
n.1381G>T
n.1718G>T
c.219+411G>T (n.219+411G>T)
c.325-965G>T
c.4878G>T (p.Glu1626Asp)
c.4563G>T (p.Glu1521Asp)
c.2460G>T (p.Glu820Asp)
c.4902G>T (p.Glu1634Asp)
c.4893G>T (p.Glu1631Asp)
c.4884G>T (p.Glu1628Asp)
c.3222G>T (p.Glu1074Asp)
Xg.108695333T>ACA414132777COL4A5c.4888T>A (p.Phe1630Ile)
c.4870T>A (p.Phe1624Ile)
n.1382T>A
n.1719T>A
c.219+412T>A (n.219+412T>A)
c.325-964T>A
c.4879T>A (p.Phe1627Ile)
c.4564T>A (p.Phe1522Ile)
c.2461T>A (p.Phe821Ile)
c.4903T>A (p.Phe1635Ile)
c.4894T>A (p.Phe1632Ile)
c.4885T>A (p.Phe1629Ile)
c.3223T>A (p.Phe1075Ile)
Xg.108695333T>CCA414132778COL4A5c.4888T>C (p.Phe1630Leu)
c.4870T>C (p.Phe1624Leu)
n.1382T>C
n.1719T>C
c.219+412T>C (n.219+412T>C)
c.325-964T>C
c.4879T>C (p.Phe1627Leu)
c.4564T>C (p.Phe1522Leu)
c.2461T>C (p.Phe821Leu)
c.4903T>C (p.Phe1635Leu)
c.4894T>C (p.Phe1632Leu)
c.4885T>C (p.Phe1629Leu)
c.3223T>C (p.Phe1075Leu)
Xg.108695333T>GCA414132779COL4A5c.4888T>G (p.Phe1630Val)
c.4870T>G (p.Phe1624Val)
n.1382T>G
n.1719T>G
c.219+412T>G (n.219+412T>G)
c.325-964T>G
c.4879T>G (p.Phe1627Val)
c.4564T>G (p.Phe1522Val)
c.2461T>G (p.Phe821Val)
c.4903T>G (p.Phe1635Val)
c.4894T>G (p.Phe1632Val)
c.4885T>G (p.Phe1629Val)
c.3223T>G (p.Phe1075Val)
Xg.108695334T>ACA414132780COL4A5c.4889T>A (p.Phe1630Tyr)
c.4871T>A (p.Phe1624Tyr)
n.1383T>A
n.1720T>A
c.219+413T>A (n.219+413T>A)
c.325-963T>A
c.4880T>A (p.Phe1627Tyr)
c.4565T>A (p.Phe1522Tyr)
c.2462T>A (p.Phe821Tyr)
c.4904T>A (p.Phe1635Tyr)
c.4895T>A (p.Phe1632Tyr)
c.4886T>A (p.Phe1629Tyr)
c.3224T>A (p.Phe1075Tyr)
Xg.108695334T>CCA414132781COL4A5c.4889T>C (p.Phe1630Ser)
c.4871T>C (p.Phe1624Ser)
n.1383T>C
n.1720T>C
c.219+413T>C (n.219+413T>C)
c.325-963T>C
c.4880T>C (p.Phe1627Ser)
c.4565T>C (p.Phe1522Ser)
c.2462T>C (p.Phe821Ser)
c.4904T>C (p.Phe1635Ser)
c.4895T>C (p.Phe1632Ser)
c.4886T>C (p.Phe1629Ser)
c.3224T>C (p.Phe1075Ser)
Xg.108695334T>GCA414132782COL4A5c.4889T>G (p.Phe1630Cys)
c.4871T>G (p.Phe1624Cys)
n.1383T>G
n.1720T>G
c.219+413T>G (n.219+413T>G)
c.325-963T>G
c.4880T>G (p.Phe1627Cys)
c.4565T>G (p.Phe1522Cys)
c.2462T>G (p.Phe821Cys)
c.4904T>G (p.Phe1635Cys)
c.4895T>G (p.Phe1632Cys)
c.4886T>G (p.Phe1629Cys)
c.3224T>G (p.Phe1075Cys)
Xg.108695337_108695340delCA2739273724COL4A5c.4892_4895del (p.Arg1631GlnfsTer27)
c.4874_4877del (p.Arg1625GlnfsTer27)
n.1386_1389del
n.1723_1726del
c.219+416_219+419del (n.219+416_219+419del)
c.325-960_325-957del
c.4883_4886del (p.Arg1628GlnfsTer27)
c.4568_4571del (p.Arg1523GlnfsTer27)
c.2465_2468del (p.Arg822GlnfsTer27)
c.4907_4910del (p.Arg1636GlnfsTer27)
c.4898_4901del (p.Arg1633GlnfsTer27)
c.4889_4892del (p.Arg1630GlnfsTer27)
c.3227_3230del (p.Arg1076GlnfsTer27)
 ClinVar
Xg.108695335T>ACA414132783COL4A5c.4890T>A (p.Phe1630Leu)
c.4872T>A (p.Phe1624Leu)
n.1384T>A
n.1721T>A
c.219+414T>A (n.219+414T>A)
c.325-962T>A
c.4881T>A (p.Phe1627Leu)
c.4566T>A (p.Phe1522Leu)
c.2463T>A (p.Phe821Leu)
c.4905T>A (p.Phe1635Leu)
c.4896T>A (p.Phe1632Leu)
c.4887T>A (p.Phe1629Leu)
c.3225T>A (p.Phe1075Leu)
Xg.108695335T>CCA10489442COL4A5c.4890T>C (p.Phe1630=)
c.4872T>C (p.Phe1624=)
n.1384T>C
n.1721T>C
c.219+414T>C (n.219+414T>C)
c.325-962T>C
c.4881T>C (p.Phe1627=)
c.4566T>C (p.Phe1522=)
c.2463T>C (p.Phe821=)
c.4905T>C (p.Phe1635=)
c.4896T>C (p.Phe1632=)
c.4887T>C (p.Phe1629=)
c.3225T>C (p.Phe1075=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108695335T>GCA414132784COL4A5c.4890T>G (p.Phe1630Leu)
c.4872T>G (p.Phe1624Leu)
n.1384T>G
n.1721T>G
c.219+414T>G (n.219+414T>G)
c.325-962T>G
c.4881T>G (p.Phe1627Leu)
c.4566T>G (p.Phe1522Leu)
c.2463T>G (p.Phe821Leu)
c.4905T>G (p.Phe1635Leu)
c.4896T>G (p.Phe1632Leu)
c.4887T>G (p.Phe1629Leu)
c.3225T>G (p.Phe1075Leu)
 gnomAD v4
Xg.108695335T=CA2450721746COL4A5c.4890T= (p.Phe1630=)
c.4872T= (p.Phe1624=)
n.1384T=
n.1721T=
c.219+414T= (n.219+414T=)
c.325-962T=
c.4881T= (p.Phe1627=)
c.4566T= (p.Phe1522=)
c.2463T= (p.Phe821=)
c.4905T= (p.Phe1635=)
c.4896T= (p.Phe1632=)
c.4887T= (p.Phe1629=)
c.3225T= (p.Phe1075=)
Xg.108695336C>ACA414132785COL4A5c.4891C>A (p.Arg1631Ser)
c.4873C>A (p.Arg1625Ser)
n.1385C>A
n.1722C>A
c.219+415C>A (n.219+415C>A)
c.325-961C>A
c.4882C>A (p.Arg1628Ser)
c.4567C>A (p.Arg1523Ser)
c.2464C>A (p.Arg822Ser)
c.4906C>A (p.Arg1636Ser)
c.4897C>A (p.Arg1633Ser)
c.4888C>A (p.Arg1630Ser)
c.3226C>A (p.Arg1076Ser)
Xg.108695336C=CA2450721747COL4A5c.4891C= (p.Arg1631=)
c.4873C= (p.Arg1625=)
n.1385C=
n.1722C=
c.219+415C= (n.219+415C=)
c.325-961C=
c.4882C= (p.Arg1628=)
c.4567C= (p.Arg1523=)
c.2464C= (p.Arg822=)
c.4906C= (p.Arg1636=)
c.4897C= (p.Arg1633=)
c.4888C= (p.Arg1630=)
c.3226C= (p.Arg1076=)
Xg.108695336C>GCA414132786COL4A5c.4891C>G (p.Arg1631Gly)
c.4873C>G (p.Arg1625Gly)
n.1385C>G
n.1722C>G
c.219+415C>G (n.219+415C>G)
c.325-961C>G
c.4882C>G (p.Arg1628Gly)
c.4567C>G (p.Arg1523Gly)
c.2464C>G (p.Arg822Gly)
c.4906C>G (p.Arg1636Gly)
c.4897C>G (p.Arg1633Gly)
c.4888C>G (p.Arg1630Gly)
c.3226C>G (p.Arg1076Gly)
Xg.108695336C>TCA334063315COL4A5c.4891C>T (p.Arg1631Cys)
c.4873C>T (p.Arg1625Cys)
n.1385C>T
n.1722C>T
c.219+415C>T (n.219+415C>T)
c.325-961C>T
c.4882C>T (p.Arg1628Cys)
c.4567C>T (p.Arg1523Cys)
c.2464C>T (p.Arg822Cys)
c.4906C>T (p.Arg1636Cys)
c.4897C>T (p.Arg1633Cys)
c.4888C>T (p.Arg1630Cys)
c.3226C>T (p.Arg1076Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108695337G>ACA10489443COL4A5c.4892G>A (p.Arg1631His)
c.4874G>A (p.Arg1625His)
n.1386G>A
n.1723G>A
c.219+416G>A (n.219+416G>A)
c.325-960G>A
c.4883G>A (p.Arg1628His)
c.4568G>A (p.Arg1523His)
c.2465G>A (p.Arg822His)
c.4907G>A (p.Arg1636His)
c.4898G>A (p.Arg1633His)
c.4889G>A (p.Arg1630His)
c.3227G>A (p.Arg1076His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.108695337G>CCA414132787COL4A5c.4892G>C (p.Arg1631Pro)
c.4874G>C (p.Arg1625Pro)
n.1386G>C
n.1723G>C
c.219+416G>C (n.219+416G>C)
c.325-960G>C
c.4883G>C (p.Arg1628Pro)
c.4568G>C (p.Arg1523Pro)
c.2465G>C (p.Arg822Pro)
c.4907G>C (p.Arg1636Pro)
c.4898G>C (p.Arg1633Pro)
c.4889G>C (p.Arg1630Pro)
c.3227G>C (p.Arg1076Pro)
Xg.108695337G=CA2450721748COL4A5c.4892G= (p.Arg1631=)
c.4874G= (p.Arg1625=)
n.1386G=
n.1723G=
c.219+416G= (n.219+416G=)
c.325-960G=
c.4883G= (p.Arg1628=)
c.4568G= (p.Arg1523=)
c.2465G= (p.Arg822=)
c.4907G= (p.Arg1636=)
c.4898G= (p.Arg1633=)
c.4889G= (p.Arg1630=)
c.3227G= (p.Arg1076=)
Xg.108695337G>TCA414132788COL4A5c.4892G>T (p.Arg1631Leu)
c.4874G>T (p.Arg1625Leu)
n.1386G>T
n.1723G>T
c.219+416G>T (n.219+416G>T)
c.325-960G>T
c.4883G>T (p.Arg1628Leu)
c.4568G>T (p.Arg1523Leu)
c.2465G>T (p.Arg822Leu)
c.4907G>T (p.Arg1636Leu)
c.4898G>T (p.Arg1633Leu)
c.4889G>T (p.Arg1630Leu)
c.3227G>T (p.Arg1076Leu)
 dbSNP
Xg.108695338T>ACA517926104COL4A5c.4893T>A (p.Arg1631=)
c.4875T>A (p.Arg1625=)
n.1387T>A
n.1724T>A
c.219+417T>A (n.219+417T>A)
c.325-959T>A
c.4884T>A (p.Arg1628=)
c.4569T>A (p.Arg1523=)
c.2466T>A (p.Arg822=)
c.4908T>A (p.Arg1636=)
c.4899T>A (p.Arg1633=)
c.4890T>A (p.Arg1630=)
c.3228T>A (p.Arg1076=)
Xg.108695338T>CCA517926106COL4A5c.4893T>C (p.Arg1631=)
c.4875T>C (p.Arg1625=)
n.1387T>C
n.1724T>C
c.219+417T>C (n.219+417T>C)
c.325-959T>C
c.4884T>C (p.Arg1628=)
c.4569T>C (p.Arg1523=)
c.2466T>C (p.Arg822=)
c.4908T>C (p.Arg1636=)
c.4899T>C (p.Arg1633=)
c.4890T>C (p.Arg1630=)
c.3228T>C (p.Arg1076=)
 COSMIC COSMIC
Xg.108695338T>GCA517926105COL4A5c.4893T>G (p.Arg1631=)
c.4875T>G (p.Arg1625=)
n.1387T>G
n.1724T>G
c.219+417T>G (n.219+417T>G)
c.325-959T>G
c.4884T>G (p.Arg1628=)
c.4569T>G (p.Arg1523=)
c.2466T>G (p.Arg822=)
c.4908T>G (p.Arg1636=)
c.4899T>G (p.Arg1633=)
c.4890T>G (p.Arg1630=)
c.3228T>G (p.Arg1076=)
Xg.108695339T>ACA414132789COL4A5c.4894T>A (p.Ser1632Thr)
c.4876T>A (p.Ser1626Thr)
n.1388T>A
n.1725T>A
c.219+418T>A (n.219+418T>A)
c.325-958T>A
c.4885T>A (p.Ser1629Thr)
c.4570T>A (p.Ser1524Thr)
c.2467T>A (p.Ser823Thr)
c.4909T>A (p.Ser1637Thr)
c.4900T>A (p.Ser1634Thr)
c.4891T>A (p.Ser1631Thr)
c.3229T>A (p.Ser1077Thr)
Xg.108695339T>CCA414132790COL4A5c.4894T>C (p.Ser1632Pro)
c.4876T>C (p.Ser1626Pro)
n.1388T>C
n.1725T>C
c.219+418T>C (n.219+418T>C)
c.325-958T>C
c.4885T>C (p.Ser1629Pro)
c.4570T>C (p.Ser1524Pro)
c.2467T>C (p.Ser823Pro)
c.4909T>C (p.Ser1637Pro)
c.4900T>C (p.Ser1634Pro)
c.4891T>C (p.Ser1631Pro)
c.3229T>C (p.Ser1077Pro)
 gnomAD v4
Xg.108695339T>GCA414132791COL4A5c.4894T>G (p.Ser1632Ala)
c.4876T>G (p.Ser1626Ala)
n.1388T>G
n.1725T>G
c.219+418T>G (n.219+418T>G)
c.325-958T>G
c.4885T>G (p.Ser1629Ala)
c.4570T>G (p.Ser1524Ala)
c.2467T>G (p.Ser823Ala)
c.4909T>G (p.Ser1637Ala)
c.4900T>G (p.Ser1634Ala)
c.4891T>G (p.Ser1631Ala)
c.3229T>G (p.Ser1077Ala)
Xg.108695340C>ACA414132792COL4A5c.4895C>A (p.Ser1632Ter)
c.4877C>A (p.Ser1626Ter)
n.1389C>A
n.1726C>A
c.219+419C>A (n.219+419C>A)
c.325-957C>A
c.4886C>A (p.Ser1629Ter)
c.4571C>A (p.Ser1524Ter)
c.2468C>A (p.Ser823Ter)
c.4910C>A (p.Ser1637Ter)
c.4901C>A (p.Ser1634Ter)
c.4892C>A (p.Ser1631Ter)
c.3230C>A (p.Ser1077Ter)
Xg.108695340C=CA2450721749COL4A5c.4895C= (p.Ser1632=)
c.4877C= (p.Ser1626=)
n.1389C=
n.1726C=
c.219+419C= (n.219+419C=)
c.325-957C=
c.4886C= (p.Ser1629=)
c.4571C= (p.Ser1524=)
c.2468C= (p.Ser823=)
c.4910C= (p.Ser1637=)
c.4901C= (p.Ser1634=)
c.4892C= (p.Ser1631=)
c.3230C= (p.Ser1077=)
Xg.108695340C>GCA414132793COL4A5c.4895C>G (p.Ser1632Ter)
c.4877C>G (p.Ser1626Ter)
n.1389C>G
n.1726C>G
c.219+419C>G (n.219+419C>G)
c.325-957C>G
c.4886C>G (p.Ser1629Ter)
c.4571C>G (p.Ser1524Ter)
c.2468C>G (p.Ser823Ter)
c.4910C>G (p.Ser1637Ter)
c.4901C>G (p.Ser1634Ter)
c.4892C>G (p.Ser1631Ter)
c.3230C>G (p.Ser1077Ter)
Xg.108695340C>TCA414132794COL4A5c.4895C>T (p.Ser1632Leu)
c.4877C>T (p.Ser1626Leu)
n.1389C>T
n.1726C>T
c.219+419C>T (n.219+419C>T)
c.325-957C>T
c.4886C>T (p.Ser1629Leu)
c.4571C>T (p.Ser1524Leu)
c.2468C>T (p.Ser823Leu)
c.4910C>T (p.Ser1637Leu)
c.4901C>T (p.Ser1634Leu)
c.4892C>T (p.Ser1631Leu)
c.3230C>T (p.Ser1077Leu)
 ClinVar dbSNP
Xg.108695341A>CCA517926107COL4A5c.4896A>C (p.Ser1632=)
c.4878A>C (p.Ser1626=)
n.1390A>C
n.1727A>C
c.219+420A>C (n.219+420A>C)
c.325-956A>C
c.4887A>C (p.Ser1629=)
c.4572A>C (p.Ser1524=)
c.2469A>C (p.Ser823=)
c.4911A>C (p.Ser1637=)
c.4902A>C (p.Ser1634=)
c.4893A>C (p.Ser1631=)
c.3231A>C (p.Ser1077=)
Xg.108695341A>GCA517926108COL4A5c.4896A>G (p.Ser1632=)
c.4878A>G (p.Ser1626=)
n.1390A>G
n.1727A>G
c.219+420A>G (n.219+420A>G)
c.325-956A>G
c.4887A>G (p.Ser1629=)
c.4572A>G (p.Ser1524=)
c.2469A>G (p.Ser823=)
c.4911A>G (p.Ser1637=)
c.4902A>G (p.Ser1634=)
c.4893A>G (p.Ser1631=)
c.3231A>G (p.Ser1077=)
 ClinVar dbSNP
Xg.108695341A>TCA517926109COL4A5c.4896A>T (p.Ser1632=)
c.4878A>T (p.Ser1626=)
n.1390A>T
n.1727A>T
c.219+420A>T (n.219+420A>T)
c.325-956A>T
c.4887A>T (p.Ser1629=)
c.4572A>T (p.Ser1524=)
c.2469A>T (p.Ser823=)
c.4911A>T (p.Ser1637=)
c.4902A>T (p.Ser1634=)
c.4893A>T (p.Ser1631=)
c.3231A>T (p.Ser1077=)
Xg.108695342G>ACA414132795COL4A5c.4897G>A (p.Ala1633Thr)
c.4879G>A (p.Ala1627Thr)
n.1391G>A
n.1728G>A
c.219+421G>A (n.219+421G>A)
c.325-955G>A
c.4888G>A (p.Ala1630Thr)
c.4573G>A (p.Ala1525Thr)
c.2470G>A (p.Ala824Thr)
c.4912G>A (p.Ala1638Thr)
c.4903G>A (p.Ala1635Thr)
c.4894G>A (p.Ala1632Thr)
c.3232G>A (p.Ala1078Thr)
Xg.108695342G>CCA414132796COL4A5c.4897G>C (p.Ala1633Pro)
c.4879G>C (p.Ala1627Pro)
n.1391G>C
n.1728G>C
c.219+421G>C (n.219+421G>C)
c.325-955G>C
c.4888G>C (p.Ala1630Pro)
c.4573G>C (p.Ala1525Pro)
c.2470G>C (p.Ala824Pro)
c.4912G>C (p.Ala1638Pro)
c.4903G>C (p.Ala1635Pro)
c.4894G>C (p.Ala1632Pro)
c.3232G>C (p.Ala1078Pro)
Xg.108695342G>TCA414132797COL4A5c.4897G>T (p.Ala1633Ser)
c.4879G>T (p.Ala1627Ser)
n.1391G>T
n.1728G>T
c.219+421G>T (n.219+421G>T)
c.325-955G>T
c.4888G>T (p.Ala1630Ser)
c.4573G>T (p.Ala1525Ser)
c.2470G>T (p.Ala824Ser)
c.4912G>T (p.Ala1638Ser)
c.4903G>T (p.Ala1635Ser)
c.4894G>T (p.Ala1632Ser)
c.3232G>T (p.Ala1078Ser)
Xg.108695342_108695346delinsGCTCCCA2450721750COL4A5c.4897_4901delinsGCTCC (p.Ala1633=)
c.4879_4883delinsGCTCC (p.Ala1627=)
n.1391_1395delinsGCTCC
n.1728_1732delinsGCTCC
c.219+421_219+425delinsGCTCC (n.219+421_219+425delinsGCTCC)
c.325-955_325-951delinsGCTCC
c.4888_4892delinsGCTCC (p.Ala1630=)
c.4573_4577delinsGCTCC (p.Ala1525=)
c.2470_2474delinsGCTCC (p.Ala824=)
c.4912_4916delinsGCTCC (p.Ala1638=)
c.4903_4907delinsGCTCC (p.Ala1635=)
c.4894_4898delinsGCTCC (p.Ala1632=)
c.3232_3236delinsGCTCC (p.Ala1078=)
Xg.108695343C>ACA414132799COL4A5c.4898C>A (p.Ala1633Asp)
c.4880C>A (p.Ala1627Asp)
n.1392C>A
n.1729C>A
c.219+422C>A (n.219+422C>A)
c.325-954C>A
c.4889C>A (p.Ala1630Asp)
c.4574C>A (p.Ala1525Asp)
c.2471C>A (p.Ala824Asp)
c.4913C>A (p.Ala1638Asp)
c.4904C>A (p.Ala1635Asp)
c.4895C>A (p.Ala1632Asp)
c.3233C>A (p.Ala1078Asp)
Xg.108695343C=CA2450721751COL4A5c.4898C= (p.Ala1633=)
c.4880C= (p.Ala1627=)
n.1392C=
n.1729C=
c.219+422C= (n.219+422C=)
c.325-954C=
c.4889C= (p.Ala1630=)
c.4574C= (p.Ala1525=)
c.2471C= (p.Ala824=)
c.4913C= (p.Ala1638=)
c.4904C= (p.Ala1635=)
c.4895C= (p.Ala1632=)
c.3233C= (p.Ala1078=)
Xg.108695343C>GCA414132798COL4A5c.4898C>G (p.Ala1633Gly)
c.4880C>G (p.Ala1627Gly)
n.1392C>G
n.1729C>G
c.219+422C>G (n.219+422C>G)
c.325-954C>G
c.4889C>G (p.Ala1630Gly)
c.4574C>G (p.Ala1525Gly)
c.2471C>G (p.Ala824Gly)
c.4913C>G (p.Ala1638Gly)
c.4904C>G (p.Ala1635Gly)
c.4895C>G (p.Ala1632Gly)
c.3233C>G (p.Ala1078Gly)
Xg.108695343C>TCA334063356COL4A5c.4898C>T (p.Ala1633Val)
c.4880C>T (p.Ala1627Val)
n.1392C>T
n.1729C>T
c.219+422C>T (n.219+422C>T)
c.325-954C>T
c.4889C>T (p.Ala1630Val)
c.4574C>T (p.Ala1525Val)
c.2471C>T (p.Ala824Val)
c.4913C>T (p.Ala1638Val)
c.4904C>T (p.Ala1635Val)
c.4895C>T (p.Ala1632Val)
c.3233C>T (p.Ala1078Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108695345_108695348delCA10588942COL4A5c.4900_4903del (p.Pro1634SerfsTer24)
c.4882_4885del (p.Pro1628SerfsTer24)
n.1394_1397del
n.1731_1734del
c.219+424_219+427del (n.219+424_219+427del)
c.325-952_325-949del
c.4891_4894del (p.Pro1631SerfsTer24)
c.4576_4579del (p.Pro1526SerfsTer24)
c.2473_2476del (p.Pro825SerfsTer24)
c.4915_4918del (p.Pro1639SerfsTer24)
c.4906_4909del (p.Pro1636SerfsTer24)
c.4897_4900del (p.Pro1633SerfsTer24)
c.3235_3238del (p.Pro1079SerfsTer24)
 ClinVar dbSNP
Xg.108695344T>ACA517926110COL4A5c.4899T>A (p.Ala1633=)
c.4881T>A (p.Ala1627=)
n.1393T>A
n.1730T>A
c.219+423T>A (n.219+423T>A)
c.325-953T>A
c.4890T>A (p.Ala1630=)
c.4575T>A (p.Ala1525=)
c.2472T>A (p.Ala824=)
c.4914T>A (p.Ala1638=)
c.4905T>A (p.Ala1635=)
c.4896T>A (p.Ala1632=)
c.3234T>A (p.Ala1078=)
Xg.108695344T>CCA517926111COL4A5c.4899T>C (p.Ala1633=)
c.4881T>C (p.Ala1627=)
n.1393T>C
n.1730T>C
c.219+423T>C (n.219+423T>C)
c.325-953T>C
c.4890T>C (p.Ala1630=)
c.4575T>C (p.Ala1525=)
c.2472T>C (p.Ala824=)
c.4914T>C (p.Ala1638=)
c.4905T>C (p.Ala1635=)
c.4896T>C (p.Ala1632=)
c.3234T>C (p.Ala1078=)
Xg.108695344T>GCA517926112COL4A5c.4899T>G (p.Ala1633=)
c.4881T>G (p.Ala1627=)
n.1393T>G
n.1730T>G
c.219+423T>G (n.219+423T>G)
c.325-953T>G
c.4890T>G (p.Ala1630=)
c.4575T>G (p.Ala1525=)
c.2472T>G (p.Ala824=)
c.4914T>G (p.Ala1638=)
c.4905T>G (p.Ala1635=)
c.4896T>G (p.Ala1632=)
c.3234T>G (p.Ala1078=)
Xg.108695345C>ACA414132800COL4A5c.4900C>A (p.Pro1634Thr)
c.4882C>A (p.Pro1628Thr)
n.1394C>A
n.1731C>A
c.219+424C>A (n.219+424C>A)
c.325-952C>A
c.4891C>A (p.Pro1631Thr)
c.4576C>A (p.Pro1526Thr)
c.2473C>A (p.Pro825Thr)
c.4915C>A (p.Pro1639Thr)
c.4906C>A (p.Pro1636Thr)
c.4897C>A (p.Pro1633Thr)
c.3235C>A (p.Pro1079Thr)
Xg.108695345C>GCA414132801COL4A5c.4900C>G (p.Pro1634Ala)
c.4882C>G (p.Pro1628Ala)
n.1394C>G
n.1731C>G
c.219+424C>G (n.219+424C>G)
c.325-952C>G
c.4891C>G (p.Pro1631Ala)
c.4576C>G (p.Pro1526Ala)
c.2473C>G (p.Pro825Ala)
c.4915C>G (p.Pro1639Ala)
c.4906C>G (p.Pro1636Ala)
c.4897C>G (p.Pro1633Ala)
c.3235C>G (p.Pro1079Ala)
Xg.108695345C>TCA414132802COL4A5c.4900C>T (p.Pro1634Ser)
c.4882C>T (p.Pro1628Ser)
n.1394C>T
n.1731C>T
c.219+424C>T (n.219+424C>T)
c.325-952C>T
c.4891C>T (p.Pro1631Ser)
c.4576C>T (p.Pro1526Ser)
c.2473C>T (p.Pro825Ser)
c.4915C>T (p.Pro1639Ser)
c.4906C>T (p.Pro1636Ser)
c.4897C>T (p.Pro1633Ser)
c.3235C>T (p.Pro1079Ser)
 COSMIC COSMIC
Xg.108695346C>ACA414132803COL4A5c.4901C>A (p.Pro1634His)
c.4883C>A (p.Pro1628His)
n.1395C>A
n.1732C>A
c.219+425C>A (n.219+425C>A)
c.325-951C>A
c.4892C>A (p.Pro1631His)
c.4577C>A (p.Pro1526His)
c.2474C>A (p.Pro825His)
c.4916C>A (p.Pro1639His)
c.4907C>A (p.Pro1636His)
c.4898C>A (p.Pro1633His)
c.3236C>A (p.Pro1079His)
Xg.108695346C>GCA414132804COL4A5c.4901C>G (p.Pro1634Arg)
c.4883C>G (p.Pro1628Arg)
n.1395C>G
n.1732C>G
c.219+425C>G (n.219+425C>G)
c.325-951C>G
c.4892C>G (p.Pro1631Arg)
c.4577C>G (p.Pro1526Arg)
c.2474C>G (p.Pro825Arg)
c.4916C>G (p.Pro1639Arg)
c.4907C>G (p.Pro1636Arg)
c.4898C>G (p.Pro1633Arg)
c.3236C>G (p.Pro1079Arg)
Xg.108695346C>TCA414132805COL4A5c.4901C>T (p.Pro1634Leu)
c.4883C>T (p.Pro1628Leu)
n.1395C>T
n.1732C>T
c.219+425C>T (n.219+425C>T)
c.325-951C>T
c.4892C>T (p.Pro1631Leu)
c.4577C>T (p.Pro1526Leu)
c.2474C>T (p.Pro825Leu)
c.4916C>T (p.Pro1639Leu)
c.4907C>T (p.Pro1636Leu)
c.4898C>T (p.Pro1633Leu)
c.3236C>T (p.Pro1079Leu)
 COSMIC COSMIC
Xg.108695347C>ACA517926115COL4A5c.4902C>A (p.Pro1634=)
c.4884C>A (p.Pro1628=)
n.1396C>A
n.1733C>A
c.219+426C>A (n.219+426C>A)
c.325-950C>A
c.4893C>A (p.Pro1631=)
c.4578C>A (p.Pro1526=)
c.2475C>A (p.Pro825=)
c.4917C>A (p.Pro1639=)
c.4908C>A (p.Pro1636=)
c.4899C>A (p.Pro1633=)
c.3237C>A (p.Pro1079=)
Xg.108695347C=CA2450721752COL4A5c.4902C= (p.Pro1634=)
c.4884C= (p.Pro1628=)
n.1396C=
n.1733C=
c.219+426C= (n.219+426C=)
c.325-950C=
c.4893C= (p.Pro1631=)
c.4578C= (p.Pro1526=)
c.2475C= (p.Pro825=)
c.4917C= (p.Pro1639=)
c.4908C= (p.Pro1636=)
c.4899C= (p.Pro1633=)
c.3237C= (p.Pro1079=)
Xg.108695347C>GCA517926114COL4A5c.4902C>G (p.Pro1634=)
c.4884C>G (p.Pro1628=)
n.1396C>G
n.1733C>G
c.219+426C>G (n.219+426C>G)
c.325-950C>G
c.4893C>G (p.Pro1631=)
c.4578C>G (p.Pro1526=)
c.2475C>G (p.Pro825=)
c.4917C>G (p.Pro1639=)
c.4908C>G (p.Pro1636=)
c.4899C>G (p.Pro1633=)
c.3237C>G (p.Pro1079=)
Xg.108695347C>TCA517926113COL4A5c.4902C>T (p.Pro1634=)
c.4884C>T (p.Pro1628=)
n.1396C>T
n.1733C>T
c.219+426C>T (n.219+426C>T)
c.325-950C>T
c.4893C>T (p.Pro1631=)
c.4578C>T (p.Pro1526=)
c.2475C>T (p.Pro825=)
c.4917C>T (p.Pro1639=)
c.4908C>T (p.Pro1636=)
c.4899C>T (p.Pro1633=)
c.3237C>T (p.Pro1079=)
 ClinVar dbSNP gnomAD v4
Xg.108695348T>ACA414132806COL4A5c.4903T>A (p.Phe1635Ile)
c.4885T>A (p.Phe1629Ile)
n.1397T>A
n.1734T>A
c.219+427T>A (n.219+427T>A)
c.325-949T>A
c.4894T>A (p.Phe1632Ile)
c.4579T>A (p.Phe1527Ile)
c.2476T>A (p.Phe826Ile)
c.4918T>A (p.Phe1640Ile)
c.4909T>A (p.Phe1637Ile)
c.4900T>A (p.Phe1634Ile)
c.3238T>A (p.Phe1080Ile)
Xg.108695348T>CCA414132807COL4A5c.4903T>C (p.Phe1635Leu)
c.4885T>C (p.Phe1629Leu)
n.1397T>C
n.1734T>C
c.219+427T>C (n.219+427T>C)
c.325-949T>C
c.4894T>C (p.Phe1632Leu)
c.4579T>C (p.Phe1527Leu)
c.2476T>C (p.Phe826Leu)
c.4918T>C (p.Phe1640Leu)
c.4909T>C (p.Phe1637Leu)
c.4900T>C (p.Phe1634Leu)
c.3238T>C (p.Phe1080Leu)
Xg.108695348T>GCA414132808COL4A5c.4903T>G (p.Phe1635Val)
c.4885T>G (p.Phe1629Val)
n.1397T>G
n.1734T>G
c.219+427T>G (n.219+427T>G)
c.325-949T>G
c.4894T>G (p.Phe1632Val)
c.4579T>G (p.Phe1527Val)
c.2476T>G (p.Phe826Val)
c.4918T>G (p.Phe1640Val)
c.4909T>G (p.Phe1637Val)
c.4900T>G (p.Phe1634Val)
c.3238T>G (p.Phe1080Val)
Xg.108695349T>ACA414132809COL4A5c.4904T>A (p.Phe1635Tyr)
c.4886T>A (p.Phe1629Tyr)
n.1398T>A
n.1735T>A
c.219+428T>A (n.219+428T>A)
c.325-948T>A
c.4895T>A (p.Phe1632Tyr)
c.4580T>A (p.Phe1527Tyr)
c.2477T>A (p.Phe826Tyr)
c.4919T>A (p.Phe1640Tyr)
c.4910T>A (p.Phe1637Tyr)
c.4901T>A (p.Phe1634Tyr)
c.3239T>A (p.Phe1080Tyr)
Xg.108695349T>CCA414132810COL4A5c.4904T>C (p.Phe1635Ser)
c.4886T>C (p.Phe1629Ser)
n.1398T>C
n.1735T>C
c.219+428T>C (n.219+428T>C)
c.325-948T>C
c.4895T>C (p.Phe1632Ser)
c.4580T>C (p.Phe1527Ser)
c.2477T>C (p.Phe826Ser)
c.4919T>C (p.Phe1640Ser)
c.4910T>C (p.Phe1637Ser)
c.4901T>C (p.Phe1634Ser)
c.3239T>C (p.Phe1080Ser)
Xg.108695349T>GCA414132811COL4A5c.4904T>G (p.Phe1635Cys)
c.4886T>G (p.Phe1629Cys)
n.1398T>G
n.1735T>G
c.219+428T>G (n.219+428T>G)
c.325-948T>G
c.4895T>G (p.Phe1632Cys)
c.4580T>G (p.Phe1527Cys)
c.2477T>G (p.Phe826Cys)
c.4919T>G (p.Phe1640Cys)
c.4910T>G (p.Phe1637Cys)
c.4901T>G (p.Phe1634Cys)
c.3239T>G (p.Phe1080Cys)
Xg.108695350C>ACA414132813COL4A5c.4905C>A (p.Phe1635Leu)
c.4887C>A (p.Phe1629Leu)
n.1399C>A
n.1736C>A
c.219+429C>A (n.219+429C>A)
c.325-947C>A
c.4896C>A (p.Phe1632Leu)
c.4581C>A (p.Phe1527Leu)
c.2478C>A (p.Phe826Leu)
c.4920C>A (p.Phe1640Leu)
c.4911C>A (p.Phe1637Leu)
c.4902C>A (p.Phe1634Leu)
c.3240C>A (p.Phe1080Leu)
Xg.108695350C=CA2450721753COL4A5c.4905C= (p.Phe1635=)
c.4887C= (p.Phe1629=)
n.1399C=
n.1736C=
c.219+429C= (n.219+429C=)
c.325-947C=
c.4896C= (p.Phe1632=)
c.4581C= (p.Phe1527=)
c.2478C= (p.Phe826=)
c.4920C= (p.Phe1640=)
c.4911C= (p.Phe1637=)
c.4902C= (p.Phe1634=)
c.3240C= (p.Phe1080=)
Xg.108695350C>GCA414132812COL4A5c.4905C>G (p.Phe1635Leu)
c.4887C>G (p.Phe1629Leu)
n.1399C>G
n.1736C>G
c.219+429C>G (n.219+429C>G)
c.325-947C>G
c.4896C>G (p.Phe1632Leu)
c.4581C>G (p.Phe1527Leu)
c.2478C>G (p.Phe826Leu)
c.4920C>G (p.Phe1640Leu)
c.4911C>G (p.Phe1637Leu)
c.4902C>G (p.Phe1634Leu)
c.3240C>G (p.Phe1080Leu)
Xg.108695350C>TCA517926116COL4A5c.4905C>T (p.Phe1635=)
c.4887C>T (p.Phe1629=)
n.1399C>T
n.1736C>T
c.219+429C>T (n.219+429C>T)
c.325-947C>T
c.4896C>T (p.Phe1632=)
c.4581C>T (p.Phe1527=)
c.2478C>T (p.Phe826=)
c.4920C>T (p.Phe1640=)
c.4911C>T (p.Phe1637=)
c.4902C>T (p.Phe1634=)
c.3240C>T (p.Phe1080=)
Xg.108695352_108695413delCA2695235252COL4A5c.4907_4968del (p.Ile1636AsnfsTer10)
c.4889_4950del (p.Ile1630AsnfsTer10)
n.1401_1462del
n.1738_1799del
c.219+431_219+492del (n.219+431_219+492del)
c.325-945_325-884del
c.4898_4959del (p.Ile1633AsnfsTer10)
c.4583_4644del (p.Ile1528AsnfsTer10)
c.2480_2541del (p.Ile827AsnfsTer10)
c.4922_4983del (p.Ile1641AsnfsTer10)
c.4913_4974del (p.Ile1638AsnfsTer10)
c.4904_4965del (p.Ile1635AsnfsTer10)
c.3242_3303del (p.Ile1081AsnfsTer10)
Xg.108695351A>CCA414132814COL4A5c.4906A>C (p.Ile1636Leu)
c.4888A>C (p.Ile1630Leu)
n.1400A>C
n.1737A>C
c.219+430A>C (n.219+430A>C)
c.325-946A>C
c.4897A>C (p.Ile1633Leu)
c.4582A>C (p.Ile1528Leu)
c.2479A>C (p.Ile827Leu)
c.4921A>C (p.Ile1641Leu)
c.4912A>C (p.Ile1638Leu)
c.4903A>C (p.Ile1635Leu)
c.3241A>C (p.Ile1081Leu)
Xg.108695351A>GCA414132815COL4A5c.4906A>G (p.Ile1636Val)
c.4888A>G (p.Ile1630Val)
n.1400A>G
n.1737A>G
c.219+430A>G (n.219+430A>G)
c.325-946A>G
c.4897A>G (p.Ile1633Val)
c.4582A>G (p.Ile1528Val)
c.2479A>G (p.Ile827Val)
c.4921A>G (p.Ile1641Val)
c.4912A>G (p.Ile1638Val)
c.4903A>G (p.Ile1635Val)
c.3241A>G (p.Ile1081Val)
Xg.108695351A>TCA414132816COL4A5c.4906A>T (p.Ile1636Phe)
c.4888A>T (p.Ile1630Phe)
n.1400A>T
n.1737A>T
c.219+430A>T (n.219+430A>T)
c.325-946A>T
c.4897A>T (p.Ile1633Phe)
c.4582A>T (p.Ile1528Phe)
c.2479A>T (p.Ile827Phe)
c.4921A>T (p.Ile1641Phe)
c.4912A>T (p.Ile1638Phe)
c.4903A>T (p.Ile1635Phe)
c.3241A>T (p.Ile1081Phe)
Xg.108695351dupCA658799837COL4A5c.4906dup (p.Ile1636AsnfsTer10)
c.4888dup (p.Ile1630AsnfsTer10)
n.1400dup
n.1737dup
c.219+430dup (n.219+430dup)
c.325-946dup
c.4897dup (p.Ile1633AsnfsTer10)
c.4582dup (p.Ile1528AsnfsTer10)
c.2479dup (p.Ile827AsnfsTer10)
c.4921dup (p.Ile1641AsnfsTer10)
c.4912dup (p.Ile1638AsnfsTer10)
c.4903dup (p.Ile1635AsnfsTer10)
c.3241dup (p.Ile1081AsnfsTer10)
 ClinVar dbSNP
Xg.108695352T>ACA414132817COL4A5c.4907T>A (p.Ile1636Asn)
c.4889T>A (p.Ile1630Asn)
n.1401T>A
n.1738T>A
c.219+431T>A (n.219+431T>A)
c.325-945T>A
c.4898T>A (p.Ile1633Asn)
c.4583T>A (p.Ile1528Asn)
c.2480T>A (p.Ile827Asn)
c.4922T>A (p.Ile1641Asn)
c.4913T>A (p.Ile1638Asn)
c.4904T>A (p.Ile1635Asn)
c.3242T>A (p.Ile1081Asn)
Xg.108695352T>CCA414132818COL4A5c.4907T>C (p.Ile1636Thr)
c.4889T>C (p.Ile1630Thr)
n.1401T>C
n.1738T>C
c.219+431T>C (n.219+431T>C)
c.325-945T>C
c.4898T>C (p.Ile1633Thr)
c.4583T>C (p.Ile1528Thr)
c.2480T>C (p.Ile827Thr)
c.4922T>C (p.Ile1641Thr)
c.4913T>C (p.Ile1638Thr)
c.4904T>C (p.Ile1635Thr)
c.3242T>C (p.Ile1081Thr)
Xg.108695352T>GCA414132819COL4A5c.4907T>G (p.Ile1636Ser)
c.4889T>G (p.Ile1630Ser)
n.1401T>G
n.1738T>G
c.219+431T>G (n.219+431T>G)
c.325-945T>G
c.4898T>G (p.Ile1633Ser)
c.4583T>G (p.Ile1528Ser)
c.2480T>G (p.Ile827Ser)
c.4922T>G (p.Ile1641Ser)
c.4913T>G (p.Ile1638Ser)
c.4904T>G (p.Ile1635Ser)
c.3242T>G (p.Ile1081Ser)
Xg.108695353C>ACA517926117COL4A5c.4908C>A (p.Ile1636=)
c.4890C>A (p.Ile1630=)
n.1402C>A
n.1739C>A
c.219+432C>A (n.219+432C>A)
c.325-944C>A
c.4899C>A (p.Ile1633=)
c.4584C>A (p.Ile1528=)
c.2481C>A (p.Ile827=)
c.4923C>A (p.Ile1641=)
c.4914C>A (p.Ile1638=)
c.4905C>A (p.Ile1635=)
c.3243C>A (p.Ile1081=)
Xg.108695353C=CA2450721754COL4A5c.4908C= (p.Ile1636=)
c.4890C= (p.Ile1630=)
n.1402C=
n.1739C=
c.219+432C= (n.219+432C=)
c.325-944C=
c.4899C= (p.Ile1633=)
c.4584C= (p.Ile1528=)
c.2481C= (p.Ile827=)
c.4923C= (p.Ile1641=)
c.4914C= (p.Ile1638=)
c.4905C= (p.Ile1635=)
c.3243C= (p.Ile1081=)
Xg.108695353C>GCA414132820COL4A5c.4908C>G (p.Ile1636Met)
c.4890C>G (p.Ile1630Met)
n.1402C>G
n.1739C>G
c.219+432C>G (n.219+432C>G)
c.325-944C>G
c.4899C>G (p.Ile1633Met)
c.4584C>G (p.Ile1528Met)
c.2481C>G (p.Ile827Met)
c.4923C>G (p.Ile1641Met)
c.4914C>G (p.Ile1638Met)
c.4905C>G (p.Ile1635Met)
c.3243C>G (p.Ile1081Met)
Xg.108695353C>TCA10489444COL4A5c.4908C>T (p.Ile1636=)
c.4890C>T (p.Ile1630=)
n.1402C>T
n.1739C>T
c.219+432C>T (n.219+432C>T)
c.325-944C>T
c.4899C>T (p.Ile1633=)
c.4584C>T (p.Ile1528=)
c.2481C>T (p.Ile827=)
c.4923C>T (p.Ile1641=)
c.4914C>T (p.Ile1638=)
c.4905C>T (p.Ile1635=)
c.3243C>T (p.Ile1081=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108695354G>ACA414132821COL4A5c.4909G>A (p.Glu1637Lys)
c.4891G>A (p.Glu1631Lys)
n.1403G>A
n.1740G>A
c.219+433G>A (n.219+433G>A)
c.325-943G>A
c.4900G>A (p.Glu1634Lys)
c.4585G>A (p.Glu1529Lys)
c.2482G>A (p.Glu828Lys)
c.4924G>A (p.Glu1642Lys)
c.4915G>A (p.Glu1639Lys)
c.4906G>A (p.Glu1636Lys)
c.3244G>A (p.Glu1082Lys)
 gnomAD v4 COSMIC
Xg.108695354G>CCA414132822COL4A5c.4909G>C (p.Glu1637Gln)
c.4891G>C (p.Glu1631Gln)
n.1403G>C
n.1740G>C
c.219+433G>C (n.219+433G>C)
c.325-943G>C
c.4900G>C (p.Glu1634Gln)
c.4585G>C (p.Glu1529Gln)
c.2482G>C (p.Glu828Gln)
c.4924G>C (p.Glu1642Gln)
c.4915G>C (p.Glu1639Gln)
c.4906G>C (p.Glu1636Gln)
c.3244G>C (p.Glu1082Gln)
Xg.108695354G>TCA414132823COL4A5c.4909G>T (p.Glu1637Ter)
c.4891G>T (p.Glu1631Ter)
n.1403G>T
n.1740G>T
c.219+433G>T (n.219+433G>T)
c.325-943G>T
c.4900G>T (p.Glu1634Ter)
c.4585G>T (p.Glu1529Ter)
c.2482G>T (p.Glu828Ter)
c.4924G>T (p.Glu1642Ter)
c.4915G>T (p.Glu1639Ter)
c.4906G>T (p.Glu1636Ter)
c.3244G>T (p.Glu1082Ter)
Xg.108695355A>CCA414132824COL4A5c.4910A>C (p.Glu1637Ala)
c.4892A>C (p.Glu1631Ala)
n.1404A>C
n.1741A>C
c.219+434A>C (n.219+434A>C)
c.325-942A>C
c.4901A>C (p.Glu1634Ala)
c.4586A>C (p.Glu1529Ala)
c.2483A>C (p.Glu828Ala)
c.4925A>C (p.Glu1642Ala)
c.4916A>C (p.Glu1639Ala)
c.4907A>C (p.Glu1636Ala)
c.3245A>C (p.Glu1082Ala)
Xg.108695355A>GCA414132825COL4A5c.4910A>G (p.Glu1637Gly)
c.4892A>G (p.Glu1631Gly)
n.1404A>G
n.1741A>G
c.219+434A>G (n.219+434A>G)
c.325-942A>G
c.4901A>G (p.Glu1634Gly)
c.4586A>G (p.Glu1529Gly)
c.2483A>G (p.Glu828Gly)
c.4925A>G (p.Glu1642Gly)
c.4916A>G (p.Glu1639Gly)
c.4907A>G (p.Glu1636Gly)
c.3245A>G (p.Glu1082Gly)
 gnomAD v4
Xg.108695355A>TCA414132826COL4A5c.4910A>T (p.Glu1637Val)
c.4892A>T (p.Glu1631Val)
n.1404A>T
n.1741A>T
c.219+434A>T (n.219+434A>T)
c.325-942A>T
c.4901A>T (p.Glu1634Val)
c.4586A>T (p.Glu1529Val)
c.2483A>T (p.Glu828Val)
c.4925A>T (p.Glu1642Val)
c.4916A>T (p.Glu1639Val)
c.4907A>T (p.Glu1636Val)
c.3245A>T (p.Glu1082Val)
Xg.108695356A>CCA414132828COL4A5c.4911A>C (p.Glu1637Asp)
c.4893A>C (p.Glu1631Asp)
n.1405A>C
n.1742A>C
c.219+435A>C (n.219+435A>C)
c.325-941A>C
c.4902A>C (p.Glu1634Asp)
c.4587A>C (p.Glu1529Asp)
c.2484A>C (p.Glu828Asp)
c.4926A>C (p.Glu1642Asp)
c.4917A>C (p.Glu1639Asp)
c.4908A>C (p.Glu1636Asp)
c.3246A>C (p.Glu1082Asp)
Xg.108695356A>GCA517926118COL4A5c.4911A>G (p.Glu1637=)
c.4893A>G (p.Glu1631=)
n.1405A>G
n.1742A>G
c.219+435A>G (n.219+435A>G)
c.325-941A>G
c.4902A>G (p.Glu1634=)
c.4587A>G (p.Glu1529=)
c.2484A>G (p.Glu828=)
c.4926A>G (p.Glu1642=)
c.4917A>G (p.Glu1639=)
c.4908A>G (p.Glu1636=)
c.3246A>G (p.Glu1082=)
 ClinVar
Xg.108695356A>TCA414132827COL4A5c.4911A>T (p.Glu1637Asp)
c.4893A>T (p.Glu1631Asp)
n.1405A>T
n.1742A>T
c.219+435A>T (n.219+435A>T)
c.325-941A>T
c.4902A>T (p.Glu1634Asp)
c.4587A>T (p.Glu1529Asp)
c.2484A>T (p.Glu828Asp)
c.4926A>T (p.Glu1642Asp)
c.4917A>T (p.Glu1639Asp)
c.4908A>T (p.Glu1636Asp)
c.3246A>T (p.Glu1082Asp)
Xg.108695357T>ACA414132829COL4A5c.4912T>A (p.Cys1638Ser)
c.4894T>A (p.Cys1632Ser)
n.1406T>A
n.1743T>A
c.219+436T>A (n.219+436T>A)
c.325-940T>A
c.4903T>A (p.Cys1635Ser)
c.4588T>A (p.Cys1530Ser)
c.2485T>A (p.Cys829Ser)
c.4927T>A (p.Cys1643Ser)
c.4918T>A (p.Cys1640Ser)
c.4909T>A (p.Cys1637Ser)
c.3247T>A (p.Cys1083Ser)
 gnomAD v4
Xg.108695357T>CCA414132830COL4A5c.4912T>C (p.Cys1638Arg)
c.4894T>C (p.Cys1632Arg)
n.1406T>C
n.1743T>C
c.219+436T>C (n.219+436T>C)
c.325-940T>C
c.4903T>C (p.Cys1635Arg)
c.4588T>C (p.Cys1530Arg)
c.2485T>C (p.Cys829Arg)
c.4927T>C (p.Cys1643Arg)
c.4918T>C (p.Cys1640Arg)
c.4909T>C (p.Cys1637Arg)
c.3247T>C (p.Cys1083Arg)
 ClinVar
Xg.108695357T>GCA259130COL4A5c.4912T>G (p.Cys1638Gly)
c.4894T>G (p.Cys1632Gly)
n.1406T>G
n.1743T>G
c.219+436T>G (n.219+436T>G)
c.325-940T>G
c.4903T>G (p.Cys1635Gly)
c.4588T>G (p.Cys1530Gly)
c.2485T>G (p.Cys829Gly)
c.4927T>G (p.Cys1643Gly)
c.4918T>G (p.Cys1640Gly)
c.4909T>G (p.Cys1637Gly)
c.3247T>G (p.Cys1083Gly)
 dbSNP
Xg.108695357T=CA2450721755COL4A5c.4912T= (p.Cys1638=)
c.4894T= (p.Cys1632=)
n.1406T=
n.1743T=
c.219+436T= (n.219+436T=)
c.325-940T=
c.4903T= (p.Cys1635=)
c.4588T= (p.Cys1530=)
c.2485T= (p.Cys829=)
c.4927T= (p.Cys1643=)
c.4918T= (p.Cys1640=)
c.4909T= (p.Cys1637=)
c.3247T= (p.Cys1083=)
Xg.108695358G>ACA414132831COL4A5c.4913G>A (p.Cys1638Tyr)
c.4895G>A (p.Cys1632Tyr)
n.1407G>A
n.1744G>A
c.219+437G>A (n.219+437G>A)
c.325-939G>A
c.4904G>A (p.Cys1635Tyr)
c.4589G>A (p.Cys1530Tyr)
c.2486G>A (p.Cys829Tyr)
c.4928G>A (p.Cys1643Tyr)
c.4919G>A (p.Cys1640Tyr)
c.4910G>A (p.Cys1637Tyr)
c.3248G>A (p.Cys1083Tyr)
 ClinVar dbSNP
Xg.108695358G>CCA414132832COL4A5c.4913G>C (p.Cys1638Ser)
c.4895G>C (p.Cys1632Ser)
n.1407G>C
n.1744G>C
c.219+437G>C (n.219+437G>C)
c.325-939G>C
c.4904G>C (p.Cys1635Ser)
c.4589G>C (p.Cys1530Ser)
c.2486G>C (p.Cys829Ser)
c.4928G>C (p.Cys1643Ser)
c.4919G>C (p.Cys1640Ser)
c.4910G>C (p.Cys1637Ser)
c.3248G>C (p.Cys1083Ser)
Xg.108695358G=CA2450721756COL4A5c.4913G= (p.Cys1638=)
c.4895G= (p.Cys1632=)
n.1407G=
n.1744G=
c.219+437G= (n.219+437G=)
c.325-939G=
c.4904G= (p.Cys1635=)
c.4589G= (p.Cys1530=)
c.2486G= (p.Cys829=)
c.4928G= (p.Cys1643=)
c.4919G= (p.Cys1640=)
c.4910G= (p.Cys1637=)
c.3248G= (p.Cys1083=)
Xg.108695358G>TCA414132833COL4A5c.4913G>T (p.Cys1638Phe)
c.4895G>T (p.Cys1632Phe)
n.1407G>T
n.1744G>T
c.219+437G>T (n.219+437G>T)
c.325-939G>T
c.4904G>T (p.Cys1635Phe)
c.4589G>T (p.Cys1530Phe)
c.2486G>T (p.Cys829Phe)
c.4928G>T (p.Cys1643Phe)
c.4919G>T (p.Cys1640Phe)
c.4910G>T (p.Cys1637Phe)
c.3248G>T (p.Cys1083Phe)
Xg.108695359T>ACA414132834COL4A5c.4914T>A (p.Cys1638Ter)
c.4896T>A (p.Cys1632Ter)
n.1408T>A
n.1745T>A
c.219+438T>A (n.219+438T>A)
c.325-938T>A
c.4905T>A (p.Cys1635Ter)
c.4590T>A (p.Cys1530Ter)
c.2487T>A (p.Cys829Ter)
c.4929T>A (p.Cys1643Ter)
c.4920T>A (p.Cys1640Ter)
c.4911T>A (p.Cys1637Ter)
c.3249T>A (p.Cys1083Ter)
Xg.108695359T>CCA517926119COL4A5c.4914T>C (p.Cys1638=)
c.4896T>C (p.Cys1632=)
n.1408T>C
n.1745T>C
c.219+438T>C (n.219+438T>C)
c.325-938T>C
c.4905T>C (p.Cys1635=)
c.4590T>C (p.Cys1530=)
c.2487T>C (p.Cys829=)
c.4929T>C (p.Cys1643=)
c.4920T>C (p.Cys1640=)
c.4911T>C (p.Cys1637=)
c.3249T>C (p.Cys1083=)
Xg.108695359T>GCA414132835COL4A5c.4914T>G (p.Cys1638Trp)
c.4896T>G (p.Cys1632Trp)
n.1408T>G
n.1745T>G
c.219+438T>G (n.219+438T>G)
c.325-938T>G
c.4905T>G (p.Cys1635Trp)
c.4590T>G (p.Cys1530Trp)
c.2487T>G (p.Cys829Trp)
c.4929T>G (p.Cys1643Trp)
c.4920T>G (p.Cys1640Trp)
c.4911T>G (p.Cys1637Trp)
c.3249T>G (p.Cys1083Trp)
Xg.108695359T=CA2450721757COL4A5c.4914T= (p.Cys1638=)
c.4896T= (p.Cys1632=)
n.1408T=
n.1745T=
c.219+438T= (n.219+438T=)
c.325-938T=
c.4905T= (p.Cys1635=)
c.4590T= (p.Cys1530=)
c.2487T= (p.Cys829=)
c.4929T= (p.Cys1643=)
c.4920T= (p.Cys1640=)
c.4911T= (p.Cys1637=)
c.3249T= (p.Cys1083=)
Xg.108695360C>ACA414132836COL4A5c.4915C>A (p.His1639Asn)
c.4897C>A (p.His1633Asn)
n.1409C>A
n.1746C>A
c.219+439C>A (n.219+439C>A)
c.325-937C>A
c.4906C>A (p.His1636Asn)
c.4591C>A (p.His1531Asn)
c.2488C>A (p.His830Asn)
c.4930C>A (p.His1644Asn)
c.4921C>A (p.His1641Asn)
c.4912C>A (p.His1638Asn)
c.3250C>A (p.His1084Asn)
Xg.108695360C=CA2450721758COL4A5c.4915C= (p.His1639=)
c.4897C= (p.His1633=)
n.1409C=
n.1746C=
c.219+439C= (n.219+439C=)
c.325-937C=
c.4906C= (p.His1636=)
c.4591C= (p.His1531=)
c.2488C= (p.His830=)
c.4930C= (p.His1644=)
c.4921C= (p.His1641=)
c.4912C= (p.His1638=)
c.3250C= (p.His1084=)
Xg.108695360C>GCA414132837COL4A5c.4915C>G (p.His1639Asp)
c.4897C>G (p.His1633Asp)
n.1409C>G
n.1746C>G
c.219+439C>G (n.219+439C>G)
c.325-937C>G
c.4906C>G (p.His1636Asp)
c.4591C>G (p.His1531Asp)
c.2488C>G (p.His830Asp)
c.4930C>G (p.His1644Asp)
c.4921C>G (p.His1641Asp)
c.4912C>G (p.His1638Asp)
c.3250C>G (p.His1084Asp)
Xg.108695360C>TCA414132838COL4A5c.4915C>T (p.His1639Tyr)
c.4897C>T (p.His1633Tyr)
n.1409C>T
n.1746C>T
c.219+439C>T (n.219+439C>T)
c.325-937C>T
c.4906C>T (p.His1636Tyr)
c.4591C>T (p.His1531Tyr)
c.2488C>T (p.His830Tyr)
c.4930C>T (p.His1644Tyr)
c.4921C>T (p.His1641Tyr)
c.4912C>T (p.His1638Tyr)
c.3250C>T (p.His1084Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108695361A=CA2450721759COL4A5c.4916A= (p.His1639=)
c.4898A= (p.His1633=)
n.1410A=
n.1747A=
c.219+440A= (n.219+440A=)
c.325-936A=
c.4907A= (p.His1636=)
c.4592A= (p.His1531=)
c.2489A= (p.His830=)
c.4931A= (p.His1644=)
c.4922A= (p.His1641=)
c.4913A= (p.His1638=)
c.3251A= (p.His1084=)
Xg.108695361A>CCA414132839COL4A5c.4916A>C (p.His1639Pro)
c.4898A>C (p.His1633Pro)
n.1410A>C
n.1747A>C
c.219+440A>C (n.219+440A>C)
c.325-936A>C
c.4907A>C (p.His1636Pro)
c.4592A>C (p.His1531Pro)
c.2489A>C (p.His830Pro)
c.4931A>C (p.His1644Pro)
c.4922A>C (p.His1641Pro)
c.4913A>C (p.His1638Pro)
c.3251A>C (p.His1084Pro)
 gnomAD v4
Xg.108695361A>GCA334063385COL4A5c.4916A>G (p.His1639Arg)
c.4898A>G (p.His1633Arg)
n.1410A>G
n.1747A>G
c.219+440A>G (n.219+440A>G)
c.325-936A>G
c.4907A>G (p.His1636Arg)
c.4592A>G (p.His1531Arg)
c.2489A>G (p.His830Arg)
c.4931A>G (p.His1644Arg)
c.4922A>G (p.His1641Arg)
c.4913A>G (p.His1638Arg)
c.3251A>G (p.His1084Arg)
 dbSNP gnomAD v4
Xg.108695361A>TCA414132840COL4A5c.4916A>T (p.His1639Leu)
c.4898A>T (p.His1633Leu)
n.1410A>T
n.1747A>T
c.219+440A>T (n.219+440A>T)
c.325-936A>T
c.4907A>T (p.His1636Leu)
c.4592A>T (p.His1531Leu)
c.2489A>T (p.His830Leu)
c.4931A>T (p.His1644Leu)
c.4922A>T (p.His1641Leu)
c.4913A>T (p.His1638Leu)
c.3251A>T (p.His1084Leu)
Xg.108695362T>ACA414132842COL4A5c.4917T>A (p.His1639Gln)
c.4899T>A (p.His1633Gln)
n.1411T>A
n.1748T>A
c.219+441T>A (n.219+441T>A)
c.325-935T>A
c.4908T>A (p.His1636Gln)
c.4593T>A (p.His1531Gln)
c.2490T>A (p.His830Gln)
c.4932T>A (p.His1644Gln)
c.4923T>A (p.His1641Gln)
c.4914T>A (p.His1638Gln)
c.3252T>A (p.His1084Gln)
Xg.108695362T>CCA517926120COL4A5c.4917T>C (p.His1639=)
c.4899T>C (p.His1633=)
n.1411T>C
n.1748T>C
c.219+441T>C (n.219+441T>C)
c.325-935T>C
c.4908T>C (p.His1636=)
c.4593T>C (p.His1531=)
c.2490T>C (p.His830=)
c.4932T>C (p.His1644=)
c.4923T>C (p.His1641=)
c.4914T>C (p.His1638=)
c.3252T>C (p.His1084=)
Xg.108695362T>GCA414132841COL4A5c.4917T>G (p.His1639Gln)
c.4899T>G (p.His1633Gln)
n.1411T>G
n.1748T>G
c.219+441T>G (n.219+441T>G)
c.325-935T>G
c.4908T>G (p.His1636Gln)
c.4593T>G (p.His1531Gln)
c.2490T>G (p.His830Gln)
c.4932T>G (p.His1644Gln)
c.4923T>G (p.His1641Gln)
c.4914T>G (p.His1638Gln)
c.3252T>G (p.His1084Gln)
Xg.108695362dupCA2695235253COL4A5c.4917dup (p.Gly1640TrpfsTer6)
c.4899dup (p.Gly1634TrpfsTer6)
n.1411dup
n.1748dup
c.219+441dup (n.219+441dup)
c.325-935dup
c.4908dup (p.Gly1637TrpfsTer6)
c.4593dup (p.Gly1532TrpfsTer6)
c.2490dup (p.Gly831TrpfsTer6)
c.4932dup (p.Gly1645TrpfsTer6)
c.4923dup (p.Gly1642TrpfsTer6)
c.4914dup (p.Gly1639TrpfsTer6)
c.3252dup (p.Gly1085TrpfsTer6)
Xg.108695363G>ACA414132843COL4A5c.4918G>A (p.Gly1640Arg)
c.4900G>A (p.Gly1634Arg)
n.1412G>A
n.1749G>A
c.219+442G>A (n.219+442G>A)
c.325-934G>A
c.4909G>A (p.Gly1637Arg)
c.4594G>A (p.Gly1532Arg)
c.2491G>A (p.Gly831Arg)
c.4933G>A (p.Gly1645Arg)
c.4924G>A (p.Gly1642Arg)
c.4915G>A (p.Gly1639Arg)
c.3253G>A (p.Gly1085Arg)
 ClinVar
Xg.108695363G>CCA414132845COL4A5c.4918G>C (p.Gly1640Arg)
c.4900G>C (p.Gly1634Arg)
n.1412G>C
n.1749G>C
c.219+442G>C (n.219+442G>C)
c.325-934G>C
c.4909G>C (p.Gly1637Arg)
c.4594G>C (p.Gly1532Arg)
c.2491G>C (p.Gly831Arg)
c.4933G>C (p.Gly1645Arg)
c.4924G>C (p.Gly1642Arg)
c.4915G>C (p.Gly1639Arg)
c.3253G>C (p.Gly1085Arg)
Xg.108695363G>TCA414132844COL4A5c.4918G>T (p.Gly1640Trp)
c.4900G>T (p.Gly1634Trp)
n.1412G>T
n.1749G>T
c.219+442G>T (n.219+442G>T)
c.325-934G>T
c.4909G>T (p.Gly1637Trp)
c.4594G>T (p.Gly1532Trp)
c.2491G>T (p.Gly831Trp)
c.4933G>T (p.Gly1645Trp)
c.4924G>T (p.Gly1642Trp)
c.4915G>T (p.Gly1639Trp)
c.3253G>T (p.Gly1085Trp)
 gnomAD v4
Xg.108695364G>ACA414132846COL4A5c.4919G>A (p.Gly1640Glu)
c.4901G>A (p.Gly1634Glu)
n.1413G>A
n.1750G>A
c.219+443G>A (n.219+443G>A)
c.325-933G>A
c.4910G>A (p.Gly1637Glu)
c.4595G>A (p.Gly1532Glu)
c.2492G>A (p.Gly831Glu)
c.4934G>A (p.Gly1645Glu)
c.4925G>A (p.Gly1642Glu)
c.4916G>A (p.Gly1639Glu)
c.3254G>A (p.Gly1085Glu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108695364G>CCA414132848COL4A5c.4919G>C (p.Gly1640Ala)
c.4901G>C (p.Gly1634Ala)
n.1413G>C
n.1750G>C
c.219+443G>C (n.219+443G>C)
c.325-933G>C
c.4910G>C (p.Gly1637Ala)
c.4595G>C (p.Gly1532Ala)
c.2492G>C (p.Gly831Ala)
c.4934G>C (p.Gly1645Ala)
c.4925G>C (p.Gly1642Ala)
c.4916G>C (p.Gly1639Ala)
c.3254G>C (p.Gly1085Ala)
Xg.108695364G=CA2450721760COL4A5c.4919G= (p.Gly1640=)
c.4901G= (p.Gly1634=)
n.1413G=
n.1750G=
c.219+443G= (n.219+443G=)
c.325-933G=
c.4910G= (p.Gly1637=)
c.4595G= (p.Gly1532=)
c.2492G= (p.Gly831=)
c.4934G= (p.Gly1645=)
c.4925G= (p.Gly1642=)
c.4916G= (p.Gly1639=)
c.3254G= (p.Gly1085=)
Xg.108695364G>TCA414132847COL4A5c.4919G>T (p.Gly1640Val)
c.4901G>T (p.Gly1634Val)
n.1413G>T
n.1750G>T
c.219+443G>T (n.219+443G>T)
c.325-933G>T
c.4910G>T (p.Gly1637Val)
c.4595G>T (p.Gly1532Val)
c.2492G>T (p.Gly831Val)
c.4934G>T (p.Gly1645Val)
c.4925G>T (p.Gly1642Val)
c.4916G>T (p.Gly1639Val)
c.3254G>T (p.Gly1085Val)
Xg.108695365G>ACA517926121COL4A5c.4920G>A (p.Gly1640=)
c.4902G>A (p.Gly1634=)
n.1414G>A
n.1751G>A
c.219+444G>A (n.219+444G>A)
c.325-932G>A
c.4911G>A (p.Gly1637=)
c.4596G>A (p.Gly1532=)
c.2493G>A (p.Gly831=)
c.4935G>A (p.Gly1645=)
c.4926G>A (p.Gly1642=)
c.4917G>A (p.Gly1639=)
c.3255G>A (p.Gly1085=)
Xg.108695365G>CCA517926122COL4A5c.4920G>C (p.Gly1640=)
c.4902G>C (p.Gly1634=)
n.1414G>C
n.1751G>C
c.219+444G>C (n.219+444G>C)
c.325-932G>C
c.4911G>C (p.Gly1637=)
c.4596G>C (p.Gly1532=)
c.2493G>C (p.Gly831=)
c.4935G>C (p.Gly1645=)
c.4926G>C (p.Gly1642=)
c.4917G>C (p.Gly1639=)
c.3255G>C (p.Gly1085=)
Xg.108695365G>TCA517926123COL4A5c.4920G>T (p.Gly1640=)
c.4902G>T (p.Gly1634=)
n.1414G>T
n.1751G>T
c.219+444G>T (n.219+444G>T)
c.325-932G>T
c.4911G>T (p.Gly1637=)
c.4596G>T (p.Gly1532=)
c.2493G>T (p.Gly831=)
c.4935G>T (p.Gly1645=)
c.4926G>T (p.Gly1642=)
c.4917G>T (p.Gly1639=)
c.3255G>T (p.Gly1085=)
Xg.108695366A>CCA517926124COL4A5c.4921A>C (p.Arg1641=)
c.4903A>C (p.Arg1635=)
n.1415A>C
n.1752A>C
c.219+445A>C (n.219+445A>C)
c.325-931A>C
c.4912A>C (p.Arg1638=)
c.4597A>C (p.Arg1533=)
c.2494A>C (p.Arg832=)
c.4936A>C (p.Arg1646=)
c.4927A>C (p.Arg1643=)
c.4918A>C (p.Arg1640=)
c.3256A>C (p.Arg1086=)
Xg.108695366A>GCA414132849COL4A5c.4921A>G (p.Arg1641Gly)
c.4903A>G (p.Arg1635Gly)
n.1415A>G
n.1752A>G
c.219+445A>G (n.219+445A>G)
c.325-931A>G
c.4912A>G (p.Arg1638Gly)
c.4597A>G (p.Arg1533Gly)
c.2494A>G (p.Arg832Gly)
c.4936A>G (p.Arg1646Gly)
c.4927A>G (p.Arg1643Gly)
c.4918A>G (p.Arg1640Gly)
c.3256A>G (p.Arg1086Gly)
Xg.108695366A>TCA414132850COL4A5c.4921A>T (p.Arg1641Trp)
c.4903A>T (p.Arg1635Trp)
n.1415A>T
n.1752A>T
c.219+445A>T (n.219+445A>T)
c.325-931A>T
c.4912A>T (p.Arg1638Trp)
c.4597A>T (p.Arg1533Trp)
c.2494A>T (p.Arg832Trp)
c.4936A>T (p.Arg1646Trp)
c.4927A>T (p.Arg1643Trp)
c.4918A>T (p.Arg1640Trp)
c.3256A>T (p.Arg1086Trp)
Xg.108695367G>ACA414132851COL4A5c.4922G>A (p.Arg1641Lys)
c.4904G>A (p.Arg1635Lys)
n.1416G>A
n.1753G>A
c.219+446G>A (n.219+446G>A)
c.325-930G>A
c.4913G>A (p.Arg1638Lys)
c.4598G>A (p.Arg1533Lys)
c.2495G>A (p.Arg832Lys)
c.4937G>A (p.Arg1646Lys)
c.4928G>A (p.Arg1643Lys)
c.4919G>A (p.Arg1640Lys)
c.3257G>A (p.Arg1086Lys)
 ClinVar gnomAD v4
Xg.108695367G>CCA414132852COL4A5c.4922G>C (p.Arg1641Thr)
c.4904G>C (p.Arg1635Thr)
n.1416G>C
n.1753G>C
c.219+446G>C (n.219+446G>C)
c.325-930G>C
c.4913G>C (p.Arg1638Thr)
c.4598G>C (p.Arg1533Thr)
c.2495G>C (p.Arg832Thr)
c.4937G>C (p.Arg1646Thr)
c.4928G>C (p.Arg1643Thr)
c.4919G>C (p.Arg1640Thr)
c.3257G>C (p.Arg1086Thr)
Xg.108695367G>TCA414132853COL4A5c.4922G>T (p.Arg1641Met)
c.4904G>T (p.Arg1635Met)
n.1416G>T
n.1753G>T
c.219+446G>T (n.219+446G>T)
c.325-930G>T
c.4913G>T (p.Arg1638Met)
c.4598G>T (p.Arg1533Met)
c.2495G>T (p.Arg832Met)
c.4937G>T (p.Arg1646Met)
c.4928G>T (p.Arg1643Met)
c.4919G>T (p.Arg1640Met)
c.3257G>T (p.Arg1086Met)
Xg.108695368G>ACA517926125COL4A5c.4923G>A (p.Arg1641=)
c.4905G>A (p.Arg1635=)
n.1417G>A
n.1754G>A
c.219+447G>A (n.219+447G>A)
c.325-929G>A
c.4914G>A (p.Arg1638=)
c.4599G>A (p.Arg1533=)
c.2496G>A (p.Arg832=)
c.4938G>A (p.Arg1646=)
c.4929G>A (p.Arg1643=)
c.4920G>A (p.Arg1640=)
c.3258G>A (p.Arg1086=)
 gnomAD v4
Xg.108695368G>CCA414132854COL4A5c.4923G>C (p.Arg1641Ser)
c.4905G>C (p.Arg1635Ser)
n.1417G>C
n.1754G>C
c.219+447G>C (n.219+447G>C)
c.325-929G>C
c.4914G>C (p.Arg1638Ser)
c.4599G>C (p.Arg1533Ser)
c.2496G>C (p.Arg832Ser)
c.4938G>C (p.Arg1646Ser)
c.4929G>C (p.Arg1643Ser)
c.4920G>C (p.Arg1640Ser)
c.3258G>C (p.Arg1086Ser)
Xg.108695368G>TCA414132855COL4A5c.4923G>T (p.Arg1641Ser)
c.4905G>T (p.Arg1635Ser)
n.1417G>T
n.1754G>T
c.219+447G>T (n.219+447G>T)
c.325-929G>T
c.4914G>T (p.Arg1638Ser)
c.4599G>T (p.Arg1533Ser)
c.2496G>T (p.Arg832Ser)
c.4938G>T (p.Arg1646Ser)
c.4929G>T (p.Arg1643Ser)
c.4920G>T (p.Arg1640Ser)
c.3258G>T (p.Arg1086Ser)
Xg.108695369G>ACA414132856COL4A5c.4924G>A (p.Gly1642Ser)
c.4906G>A (p.Gly1636Ser)
n.1418G>A
n.1755G>A
c.219+448G>A (n.219+448G>A)
c.325-928G>A
c.4915G>A (p.Gly1639Ser)
c.4600G>A (p.Gly1534Ser)
c.2497G>A (p.Gly833Ser)
c.4939G>A (p.Gly1647Ser)
c.4930G>A (p.Gly1644Ser)
c.4921G>A (p.Gly1641Ser)
c.3259G>A (p.Gly1087Ser)
Xg.108695369G>CCA414132857COL4A5c.4924G>C (p.Gly1642Arg)
c.4906G>C (p.Gly1636Arg)
n.1418G>C
n.1755G>C
c.219+448G>C (n.219+448G>C)
c.325-928G>C
c.4915G>C (p.Gly1639Arg)
c.4600G>C (p.Gly1534Arg)
c.2497G>C (p.Gly833Arg)
c.4939G>C (p.Gly1647Arg)
c.4930G>C (p.Gly1644Arg)
c.4921G>C (p.Gly1641Arg)
c.3259G>C (p.Gly1087Arg)
Xg.108695369G>TCA414132858COL4A5c.4924G>T (p.Gly1642Cys)
c.4906G>T (p.Gly1636Cys)
n.1418G>T
n.1755G>T
c.219+448G>T (n.219+448G>T)
c.325-928G>T
c.4915G>T (p.Gly1639Cys)
c.4600G>T (p.Gly1534Cys)
c.2497G>T (p.Gly833Cys)
c.4939G>T (p.Gly1647Cys)
c.4930G>T (p.Gly1644Cys)
c.4921G>T (p.Gly1641Cys)
c.3259G>T (p.Gly1087Cys)
 gnomAD v4
Xg.108695369_108695431delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGACCA2450721761COL4A5c.4924_4986delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1642=)
c.4906_4968delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1636=)
n.1418_1480delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC
n.1755_1817delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC
c.219+448_219+510delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (n.219+448_219+510delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC)
c.325-928_325-866delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC
c.4915_4977delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1639=)
c.4600_4662delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1534=)
c.2497_2559delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly833=)
c.4939_5001delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1647=)
c.4930_4992delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1644=)
c.4921_4983delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1641=)
c.3259_3321delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1087=)
Xg.108695370G>ACA414132861COL4A5c.4925G>A (p.Gly1642Asp)
c.4907G>A (p.Gly1636Asp)
n.1419G>A
n.1756G>A
c.219+449G>A (n.219+449G>A)
c.325-927G>A
c.4916G>A (p.Gly1639Asp)
c.4601G>A (p.Gly1534Asp)
c.2498G>A (p.Gly833Asp)
c.4940G>A (p.Gly1647Asp)
c.4931G>A (p.Gly1644Asp)
c.4922G>A (p.Gly1641Asp)
c.3260G>A (p.Gly1087Asp)
 dbSNP
Xg.108695370G>CCA414132860COL4A5c.4925G>C (p.Gly1642Ala)
c.4907G>C (p.Gly1636Ala)
n.1419G>C
n.1756G>C
c.219+449G>C (n.219+449G>C)
c.325-927G>C
c.4916G>C (p.Gly1639Ala)
c.4601G>C (p.Gly1534Ala)
c.2498G>C (p.Gly833Ala)
c.4940G>C (p.Gly1647Ala)
c.4931G>C (p.Gly1644Ala)
c.4922G>C (p.Gly1641Ala)
c.3260G>C (p.Gly1087Ala)
Xg.108695370G>TCA414132859COL4A5c.4925G>T (p.Gly1642Val)
c.4907G>T (p.Gly1636Val)
n.1419G>T
n.1756G>T
c.219+449G>T (n.219+449G>T)
c.325-927G>T
c.4916G>T (p.Gly1639Val)
c.4601G>T (p.Gly1534Val)
c.2498G>T (p.Gly833Val)
c.4940G>T (p.Gly1647Val)
c.4931G>T (p.Gly1644Val)
c.4922G>T (p.Gly1641Val)
c.3260G>T (p.Gly1087Val)
Xg.108695370_108695431delCA1139667751COL4A5c.4925_4986del (p.Gly1642AspfsTer4)
c.4907_4968del (p.Gly1636AspfsTer4)
n.1419_1480del
n.1756_1817del
c.219+449_219+510del (n.219+449_219+510del)
c.325-927_325-866del
c.4916_4977del (p.Gly1639AspfsTer4)
c.4601_4662del (p.Gly1534AspfsTer4)
c.2498_2559del (p.Gly833AspfsTer4)
c.4940_5001del (p.Gly1647AspfsTer4)
c.4931_4992del (p.Gly1644AspfsTer4)
c.4922_4983del (p.Gly1641AspfsTer4)
c.3260_3321del (p.Gly1087AspfsTer4)
 ClinVar dbSNP
Xg.108695371T>ACA517926126COL4A5c.4926T>A (p.Gly1642=)
c.4908T>A (p.Gly1636=)
n.1420T>A
n.1757T>A
c.219+450T>A (n.219+450T>A)
c.325-926T>A
c.4917T>A (p.Gly1639=)
c.4602T>A (p.Gly1534=)
c.2499T>A (p.Gly833=)
c.4941T>A (p.Gly1647=)
c.4932T>A (p.Gly1644=)
c.4923T>A (p.Gly1641=)
c.3261T>A (p.Gly1087=)
Xg.108695371T>CCA517926127COL4A5c.4926T>C (p.Gly1642=)
c.4908T>C (p.Gly1636=)
n.1420T>C
n.1757T>C
c.219+450T>C (n.219+450T>C)
c.325-926T>C
c.4917T>C (p.Gly1639=)
c.4602T>C (p.Gly1534=)
c.2499T>C (p.Gly833=)
c.4941T>C (p.Gly1647=)
c.4932T>C (p.Gly1644=)
c.4923T>C (p.Gly1641=)
c.3261T>C (p.Gly1087=)
Xg.108695371T>GCA517926128COL4A5c.4926T>G (p.Gly1642=)
c.4908T>G (p.Gly1636=)
n.1420T>G
n.1757T>G
c.219+450T>G (n.219+450T>G)
c.325-926T>G
c.4917T>G (p.Gly1639=)
c.4602T>G (p.Gly1534=)
c.2499T>G (p.Gly833=)
c.4941T>G (p.Gly1647=)
c.4932T>G (p.Gly1644=)
c.4923T>G (p.Gly1641=)
c.3261T>G (p.Gly1087=)
Xg.108695372A>CCA414132862COL4A5c.4927A>C (p.Thr1643Pro)
c.4909A>C (p.Thr1637Pro)
n.1421A>C
n.1758A>C
c.219+451A>C (n.219+451A>C)
c.325-925A>C
c.4918A>C (p.Thr1640Pro)
c.4603A>C (p.Thr1535Pro)
c.2500A>C (p.Thr834Pro)
c.4942A>C (p.Thr1648Pro)
c.4933A>C (p.Thr1645Pro)
c.4924A>C (p.Thr1642Pro)
c.3262A>C (p.Thr1088Pro)
Xg.108695372A>GCA414132863COL4A5c.4927A>G (p.Thr1643Ala)
c.4909A>G (p.Thr1637Ala)
n.1421A>G
n.1758A>G
c.219+451A>G (n.219+451A>G)
c.325-925A>G
c.4918A>G (p.Thr1640Ala)
c.4603A>G (p.Thr1535Ala)
c.2500A>G (p.Thr834Ala)
c.4942A>G (p.Thr1648Ala)
c.4933A>G (p.Thr1645Ala)
c.4924A>G (p.Thr1642Ala)
c.3262A>G (p.Thr1088Ala)
Xg.108695372A>TCA414132864COL4A5c.4927A>T (p.Thr1643Ser)
c.4909A>T (p.Thr1637Ser)
n.1421A>T
n.1758A>T
c.219+451A>T (n.219+451A>T)
c.325-925A>T
c.4918A>T (p.Thr1640Ser)
c.4603A>T (p.Thr1535Ser)
c.2500A>T (p.Thr834Ser)
c.4942A>T (p.Thr1648Ser)
c.4933A>T (p.Thr1645Ser)
c.4924A>T (p.Thr1642Ser)
c.3262A>T (p.Thr1088Ser)
Xg.108695373C>ACA414132865COL4A5c.4928C>A (p.Thr1643Asn)
c.4910C>A (p.Thr1637Asn)
n.1422C>A
n.1759C>A
c.219+452C>A (n.219+452C>A)
c.325-924C>A
c.4919C>A (p.Thr1640Asn)
c.4604C>A (p.Thr1535Asn)
c.2501C>A (p.Thr834Asn)
c.4943C>A (p.Thr1648Asn)
c.4934C>A (p.Thr1645Asn)
c.4925C>A (p.Thr1642Asn)
c.3263C>A (p.Thr1088Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108695373C=CA2450721762COL4A5c.4928C= (p.Thr1643=)
c.4910C= (p.Thr1637=)
n.1422C=
n.1759C=
c.219+452C= (n.219+452C=)
c.325-924C=
c.4919C= (p.Thr1640=)
c.4604C= (p.Thr1535=)
c.2501C= (p.Thr834=)
c.4943C= (p.Thr1648=)
c.4934C= (p.Thr1645=)
c.4925C= (p.Thr1642=)
c.3263C= (p.Thr1088=)
Xg.108695373C>GCA414132866COL4A5c.4928C>G (p.Thr1643Ser)
c.4910C>G (p.Thr1637Ser)
n.1422C>G
n.1759C>G
c.219+452C>G (n.219+452C>G)
c.325-924C>G
c.4919C>G (p.Thr1640Ser)
c.4604C>G (p.Thr1535Ser)
c.2501C>G (p.Thr834Ser)
c.4943C>G (p.Thr1648Ser)
c.4934C>G (p.Thr1645Ser)
c.4925C>G (p.Thr1642Ser)
c.3263C>G (p.Thr1088Ser)
Xg.108695373C>TCA414132867COL4A5c.4928C>T (p.Thr1643Ile)
c.4910C>T (p.Thr1637Ile)
n.1422C>T
n.1759C>T
c.219+452C>T (n.219+452C>T)
c.325-924C>T
c.4919C>T (p.Thr1640Ile)
c.4604C>T (p.Thr1535Ile)
c.2501C>T (p.Thr834Ile)
c.4943C>T (p.Thr1648Ile)
c.4934C>T (p.Thr1645Ile)
c.4925C>T (p.Thr1642Ile)
c.3263C>T (p.Thr1088Ile)
 dbSNP
Xg.108695374C>ACA517926129COL4A5c.4929C>A (p.Thr1643=)
c.4911C>A (p.Thr1637=)
n.1423C>A
n.1760C>A
c.219+453C>A (n.219+453C>A)
c.325-923C>A
c.4920C>A (p.Thr1640=)
c.4605C>A (p.Thr1535=)
c.2502C>A (p.Thr834=)
c.4944C>A (p.Thr1648=)
c.4935C>A (p.Thr1645=)
c.4926C>A (p.Thr1642=)
c.3264C>A (p.Thr1088=)
Xg.108695374C>GCA517926130COL4A5c.4929C>G (p.Thr1643=)
c.4911C>G (p.Thr1637=)
n.1423C>G
n.1760C>G
c.219+453C>G (n.219+453C>G)
c.325-923C>G
c.4920C>G (p.Thr1640=)
c.4605C>G (p.Thr1535=)
c.2502C>G (p.Thr834=)
c.4944C>G (p.Thr1648=)
c.4935C>G (p.Thr1645=)
c.4926C>G (p.Thr1642=)
c.3264C>G (p.Thr1088=)
Xg.108695374C>TCA517926131COL4A5c.4929C>T (p.Thr1643=)
c.4911C>T (p.Thr1637=)
n.1423C>T
n.1760C>T
c.219+453C>T (n.219+453C>T)
c.325-923C>T
c.4920C>T (p.Thr1640=)
c.4605C>T (p.Thr1535=)
c.2502C>T (p.Thr834=)
c.4944C>T (p.Thr1648=)
c.4935C>T (p.Thr1645=)
c.4926C>T (p.Thr1642=)
c.3264C>T (p.Thr1088=)
Xg.108695375T>ACA414132868COL4A5c.4930T>A (p.Cys1644Ser)
c.4912T>A (p.Cys1638Ser)
n.1424T>A
n.1761T>A
c.219+454T>A (n.219+454T>A)
c.325-922T>A
c.4921T>A (p.Cys1641Ser)
c.4606T>A (p.Cys1536Ser)
c.2503T>A (p.Cys835Ser)
c.4945T>A (p.Cys1649Ser)
c.4936T>A (p.Cys1646Ser)
c.4927T>A (p.Cys1643Ser)
c.3265T>A (p.Cys1089Ser)
Xg.108695375T>CCA334063387COL4A5c.4930T>C (p.Cys1644Arg)
c.4912T>C (p.Cys1638Arg)
n.1424T>C
n.1761T>C
c.219+454T>C (n.219+454T>C)
c.325-922T>C
c.4921T>C (p.Cys1641Arg)
c.4606T>C (p.Cys1536Arg)
c.2503T>C (p.Cys835Arg)
c.4945T>C (p.Cys1649Arg)
c.4936T>C (p.Cys1646Arg)
c.4927T>C (p.Cys1643Arg)
c.3265T>C (p.Cys1089Arg)
 ClinVar dbSNP
Xg.108695375T>GCA414132869COL4A5c.4930T>G (p.Cys1644Gly)
c.4912T>G (p.Cys1638Gly)
n.1424T>G
n.1761T>G
c.219+454T>G (n.219+454T>G)
c.325-922T>G
c.4921T>G (p.Cys1641Gly)
c.4606T>G (p.Cys1536Gly)
c.2503T>G (p.Cys835Gly)
c.4945T>G (p.Cys1649Gly)
c.4936T>G (p.Cys1646Gly)
c.4927T>G (p.Cys1643Gly)
c.3265T>G (p.Cys1089Gly)
Xg.108695375T=CA2450721763COL4A5c.4930T= (p.Cys1644=)
c.4912T= (p.Cys1638=)
n.1424T=
n.1761T=
c.219+454T= (n.219+454T=)
c.325-922T=
c.4921T= (p.Cys1641=)
c.4606T= (p.Cys1536=)
c.2503T= (p.Cys835=)
c.4945T= (p.Cys1649=)
c.4936T= (p.Cys1646=)
c.4927T= (p.Cys1643=)
c.3265T= (p.Cys1089=)
Xg.108695376G>ACA259134COL4A5c.4931G>A (p.Cys1644Tyr)
c.4913G>A (p.Cys1638Tyr)
n.1425G>A
n.1762G>A
c.219+455G>A (n.219+455G>A)
c.325-921G>A
c.4922G>A (p.Cys1641Tyr)
c.4607G>A (p.Cys1536Tyr)
c.2504G>A (p.Cys835Tyr)
c.4946G>A (p.Cys1649Tyr)
c.4937G>A (p.Cys1646Tyr)
c.4928G>A (p.Cys1643Tyr)
c.3266G>A (p.Cys1089Tyr)
 ClinVar dbSNP
Xg.108695376G>CCA414132870COL4A5c.4931G>C (p.Cys1644Ser)
c.4913G>C (p.Cys1638Ser)
n.1425G>C
n.1762G>C
c.219+455G>C (n.219+455G>C)
c.325-921G>C
c.4922G>C (p.Cys1641Ser)
c.4607G>C (p.Cys1536Ser)
c.2504G>C (p.Cys835Ser)
c.4946G>C (p.Cys1649Ser)
c.4937G>C (p.Cys1646Ser)
c.4928G>C (p.Cys1643Ser)
c.3266G>C (p.Cys1089Ser)
Xg.108695376G=CA2450721764COL4A5c.4931G= (p.Cys1644=)
c.4913G= (p.Cys1638=)
n.1425G=
n.1762G=
c.219+455G= (n.219+455G=)
c.325-921G=
c.4922G= (p.Cys1641=)
c.4607G= (p.Cys1536=)
c.2504G= (p.Cys835=)
c.4946G= (p.Cys1649=)
c.4937G= (p.Cys1646=)
c.4928G= (p.Cys1643=)
c.3266G= (p.Cys1089=)
Xg.108695376G>TCA414132871COL4A5c.4931G>T (p.Cys1644Phe)
c.4913G>T (p.Cys1638Phe)
n.1425G>T
n.1762G>T
c.219+455G>T (n.219+455G>T)
c.325-921G>T
c.4922G>T (p.Cys1641Phe)
c.4607G>T (p.Cys1536Phe)
c.2504G>T (p.Cys835Phe)
c.4946G>T (p.Cys1649Phe)
c.4937G>T (p.Cys1646Phe)
c.4928G>T (p.Cys1643Phe)
c.3266G>T (p.Cys1089Phe)
Xg.108695377T>ACA414132872COL4A5c.4932T>A (p.Cys1644Ter)
c.4914T>A (p.Cys1638Ter)
n.1426T>A
n.1763T>A
c.219+456T>A (n.219+456T>A)
c.325-920T>A
c.4923T>A (p.Cys1641Ter)
c.4608T>A (p.Cys1536Ter)
c.2505T>A (p.Cys835Ter)
c.4947T>A (p.Cys1649Ter)
c.4938T>A (p.Cys1646Ter)
c.4929T>A (p.Cys1643Ter)
c.3267T>A (p.Cys1089Ter)
Xg.108695377T>CCA517926132COL4A5c.4932T>C (p.Cys1644=)
c.4914T>C (p.Cys1638=)
n.1426T>C
n.1763T>C
c.219+456T>C (n.219+456T>C)
c.325-920T>C
c.4923T>C (p.Cys1641=)
c.4608T>C (p.Cys1536=)
c.2505T>C (p.Cys835=)
c.4947T>C (p.Cys1649=)
c.4938T>C (p.Cys1646=)
c.4929T>C (p.Cys1643=)
c.3267T>C (p.Cys1089=)
Xg.108695377T>GCA414132873COL4A5c.4932T>G (p.Cys1644Trp)
c.4914T>G (p.Cys1638Trp)
n.1426T>G
n.1763T>G
c.219+456T>G (n.219+456T>G)
c.325-920T>G
c.4923T>G (p.Cys1641Trp)
c.4608T>G (p.Cys1536Trp)
c.2505T>G (p.Cys835Trp)
c.4947T>G (p.Cys1649Trp)
c.4938T>G (p.Cys1646Trp)
c.4929T>G (p.Cys1643Trp)
c.3267T>G (p.Cys1089Trp)
Xg.108695378A=CA2450721765COL4A5c.4933A= (p.Asn1645=)
c.4915A= (p.Asn1639=)
n.1427A=
n.1764A=
c.219+457A= (n.219+457A=)
c.325-919A=
c.4924A= (p.Asn1642=)
c.4609A= (p.Asn1537=)
c.2506A= (p.Asn836=)
c.4948A= (p.Asn1650=)
c.4939A= (p.Asn1647=)
c.4930A= (p.Asn1644=)
c.3268A= (p.Asn1090=)
Xg.108695378A>CCA414132874COL4A5c.4933A>C (p.Asn1645His)
c.4915A>C (p.Asn1639His)
n.1427A>C
n.1764A>C
c.219+457A>C (n.219+457A>C)
c.325-919A>C
c.4924A>C (p.Asn1642His)
c.4609A>C (p.Asn1537His)
c.2506A>C (p.Asn836His)
c.4948A>C (p.Asn1650His)
c.4939A>C (p.Asn1647His)
c.4930A>C (p.Asn1644His)
c.3268A>C (p.Asn1090His)
Xg.108695378A>GCA414132875COL4A5c.4933A>G (p.Asn1645Asp)
c.4915A>G (p.Asn1639Asp)
n.1427A>G
n.1764A>G
c.219+457A>G (n.219+457A>G)
c.325-919A>G
c.4924A>G (p.Asn1642Asp)
c.4609A>G (p.Asn1537Asp)
c.2506A>G (p.Asn836Asp)
c.4948A>G (p.Asn1650Asp)
c.4939A>G (p.Asn1647Asp)
c.4930A>G (p.Asn1644Asp)
c.3268A>G (p.Asn1090Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.108695378A>TCA414132876COL4A5c.4933A>T (p.Asn1645Tyr)
c.4915A>T (p.Asn1639Tyr)
n.1427A>T
n.1764A>T
c.219+457A>T (n.219+457A>T)
c.325-919A>T
c.4924A>T (p.Asn1642Tyr)
c.4609A>T (p.Asn1537Tyr)
c.2506A>T (p.Asn836Tyr)
c.4948A>T (p.Asn1650Tyr)
c.4939A>T (p.Asn1647Tyr)
c.4930A>T (p.Asn1644Tyr)
c.3268A>T (p.Asn1090Tyr)
Xg.108695379A>CCA414132877COL4A5c.4934A>C (p.Asn1645Thr)
c.4916A>C (p.Asn1639Thr)
n.1428A>C
n.1765A>C
c.219+458A>C (n.219+458A>C)
c.325-918A>C
c.4925A>C (p.Asn1642Thr)
c.4610A>C (p.Asn1537Thr)
c.2507A>C (p.Asn836Thr)
c.4949A>C (p.Asn1650Thr)
c.4940A>C (p.Asn1647Thr)
c.4931A>C (p.Asn1644Thr)
c.3269A>C (p.Asn1090Thr)
Xg.108695379A>GCA414132878COL4A5c.4934A>G (p.Asn1645Ser)
c.4916A>G (p.Asn1639Ser)
n.1428A>G
n.1765A>G
c.219+458A>G (n.219+458A>G)
c.325-918A>G
c.4925A>G (p.Asn1642Ser)
c.4610A>G (p.Asn1537Ser)
c.2507A>G (p.Asn836Ser)
c.4949A>G (p.Asn1650Ser)
c.4940A>G (p.Asn1647Ser)
c.4931A>G (p.Asn1644Ser)
c.3269A>G (p.Asn1090Ser)
Xg.108695379A>TCA414132879COL4A5c.4934A>T (p.Asn1645Ile)
c.4916A>T (p.Asn1639Ile)
n.1428A>T
n.1765A>T
c.219+458A>T (n.219+458A>T)
c.325-918A>T
c.4925A>T (p.Asn1642Ile)
c.4610A>T (p.Asn1537Ile)
c.2507A>T (p.Asn836Ile)
c.4949A>T (p.Asn1650Ile)
c.4940A>T (p.Asn1647Ile)
c.4931A>T (p.Asn1644Ile)
c.3269A>T (p.Asn1090Ile)

Number of alleles fetched