Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108695273A= | CA2450721723 | COL4A5 | c.4828A= (p.Ser1610=) c.4810A= (p.Ser1604=) n.1322A= n.1659A= c.219+352A= (n.219+352A=) c.325-1024A= c.4819A= (p.Ser1607=) c.4504A= (p.Ser1502=) c.2401A= (p.Ser801=) c.4843A= (p.Ser1615=) c.4834A= (p.Ser1612=) c.4825A= (p.Ser1609=) c.3163A= (p.Ser1055=) | |
X | g.108695273A>C | CA414132651 | COL4A5 | c.4828A>C (p.Ser1610Arg) c.4810A>C (p.Ser1604Arg) n.1322A>C n.1659A>C c.219+352A>C (n.219+352A>C) c.325-1024A>C c.4819A>C (p.Ser1607Arg) c.4504A>C (p.Ser1502Arg) c.2401A>C (p.Ser801Arg) c.4843A>C (p.Ser1615Arg) c.4834A>C (p.Ser1612Arg) c.4825A>C (p.Ser1609Arg) c.3163A>C (p.Ser1055Arg) | gnomAD v4 |
X | g.108695273A>G | CA10489437 | COL4A5 | c.4828A>G (p.Ser1610Gly) c.4810A>G (p.Ser1604Gly) n.1322A>G n.1659A>G c.219+352A>G (n.219+352A>G) c.325-1024A>G c.4819A>G (p.Ser1607Gly) c.4504A>G (p.Ser1502Gly) c.2401A>G (p.Ser801Gly) c.4843A>G (p.Ser1615Gly) c.4834A>G (p.Ser1612Gly) c.4825A>G (p.Ser1609Gly) c.3163A>G (p.Ser1055Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.108695273A>T | CA414132652 | COL4A5 | c.4828A>T (p.Ser1610Cys) c.4810A>T (p.Ser1604Cys) n.1322A>T n.1659A>T c.219+352A>T (n.219+352A>T) c.325-1024A>T c.4819A>T (p.Ser1607Cys) c.4504A>T (p.Ser1502Cys) c.2401A>T (p.Ser801Cys) c.4843A>T (p.Ser1615Cys) c.4834A>T (p.Ser1612Cys) c.4825A>T (p.Ser1609Cys) c.3163A>T (p.Ser1055Cys) | |
X | g.108695274G>A | CA414132653 | COL4A5 | c.4829G>A (p.Ser1610Asn) c.4811G>A (p.Ser1604Asn) n.1323G>A n.1660G>A c.219+353G>A (n.219+353G>A) c.325-1023G>A c.4820G>A (p.Ser1607Asn) c.4505G>A (p.Ser1502Asn) c.2402G>A (p.Ser801Asn) c.4844G>A (p.Ser1615Asn) c.4835G>A (p.Ser1612Asn) c.4826G>A (p.Ser1609Asn) c.3164G>A (p.Ser1055Asn) | dbSNP |
X | g.108695274G>C | CA414132654 | COL4A5 | c.4829G>C (p.Ser1610Thr) c.4811G>C (p.Ser1604Thr) n.1323G>C n.1660G>C c.219+353G>C (n.219+353G>C) c.325-1023G>C c.4820G>C (p.Ser1607Thr) c.4505G>C (p.Ser1502Thr) c.2402G>C (p.Ser801Thr) c.4844G>C (p.Ser1615Thr) c.4835G>C (p.Ser1612Thr) c.4826G>C (p.Ser1609Thr) c.3164G>C (p.Ser1055Thr) | dbSNP |
X | g.108695274G= | CA2450721724 | COL4A5 | c.4829G= (p.Ser1610=) c.4811G= (p.Ser1604=) n.1323G= n.1660G= c.219+353G= (n.219+353G=) c.325-1023G= c.4820G= (p.Ser1607=) c.4505G= (p.Ser1502=) c.2402G= (p.Ser801=) c.4844G= (p.Ser1615=) c.4835G= (p.Ser1612=) c.4826G= (p.Ser1609=) c.3164G= (p.Ser1055=) | |
X | g.108695274G>T | CA414132655 | COL4A5 | c.4829G>T (p.Ser1610Ile) c.4811G>T (p.Ser1604Ile) n.1323G>T n.1660G>T c.219+353G>T (n.219+353G>T) c.325-1023G>T c.4820G>T (p.Ser1607Ile) c.4505G>T (p.Ser1502Ile) c.2402G>T (p.Ser801Ile) c.4844G>T (p.Ser1615Ile) c.4835G>T (p.Ser1612Ile) c.4826G>T (p.Ser1609Ile) c.3164G>T (p.Ser1055Ile) | |
X | g.108695275T>A | CA414132656 | COL4A5 | c.4830T>A (p.Ser1610Arg) c.4812T>A (p.Ser1604Arg) n.1324T>A n.1661T>A c.219+354T>A (n.219+354T>A) c.325-1022T>A c.4821T>A (p.Ser1607Arg) c.4506T>A (p.Ser1502Arg) c.2403T>A (p.Ser801Arg) c.4845T>A (p.Ser1615Arg) c.4836T>A (p.Ser1612Arg) c.4827T>A (p.Ser1609Arg) c.3165T>A (p.Ser1055Arg) | |
X | g.108695275T>C | CA517926057 | COL4A5 | c.4830T>C (p.Ser1610=) c.4812T>C (p.Ser1604=) n.1324T>C n.1661T>C c.219+354T>C (n.219+354T>C) c.325-1022T>C c.4821T>C (p.Ser1607=) c.4506T>C (p.Ser1502=) c.2403T>C (p.Ser801=) c.4845T>C (p.Ser1615=) c.4836T>C (p.Ser1612=) c.4827T>C (p.Ser1609=) c.3165T>C (p.Ser1055=) | |
X | g.108695275T>G | CA414132657 | COL4A5 | c.4830T>G (p.Ser1610Arg) c.4812T>G (p.Ser1604Arg) n.1324T>G n.1661T>G c.219+354T>G (n.219+354T>G) c.325-1022T>G c.4821T>G (p.Ser1607Arg) c.4506T>G (p.Ser1502Arg) c.2403T>G (p.Ser801Arg) c.4845T>G (p.Ser1615Arg) c.4836T>G (p.Ser1612Arg) c.4827T>G (p.Ser1609Arg) c.3165T>G (p.Ser1055Arg) | |
X | g.108695276G>A | CA414132658 | COL4A5 | c.4831G>A (p.Ala1611Thr) c.4813G>A (p.Ala1605Thr) n.1325G>A n.1662G>A c.219+355G>A (n.219+355G>A) c.325-1021G>A c.4822G>A (p.Ala1608Thr) c.4507G>A (p.Ala1503Thr) c.2404G>A (p.Ala802Thr) c.4846G>A (p.Ala1616Thr) c.4837G>A (p.Ala1613Thr) c.4828G>A (p.Ala1610Thr) c.3166G>A (p.Ala1056Thr) | ClinVar dbSNP |
X | g.108695276G>C | CA414132659 | COL4A5 | c.4831G>C (p.Ala1611Pro) c.4813G>C (p.Ala1605Pro) n.1325G>C n.1662G>C c.219+355G>C (n.219+355G>C) c.325-1021G>C c.4822G>C (p.Ala1608Pro) c.4507G>C (p.Ala1503Pro) c.2404G>C (p.Ala802Pro) c.4846G>C (p.Ala1616Pro) c.4837G>C (p.Ala1613Pro) c.4828G>C (p.Ala1610Pro) c.3166G>C (p.Ala1056Pro) | |
X | g.108695276G= | CA2450721725 | COL4A5 | c.4831G= (p.Ala1611=) c.4813G= (p.Ala1605=) n.1325G= n.1662G= c.219+355G= (n.219+355G=) c.325-1021G= c.4822G= (p.Ala1608=) c.4507G= (p.Ala1503=) c.2404G= (p.Ala802=) c.4846G= (p.Ala1616=) c.4837G= (p.Ala1613=) c.4828G= (p.Ala1610=) c.3166G= (p.Ala1056=) | |
X | g.108695276G>T | CA414132660 | COL4A5 | c.4831G>T (p.Ala1611Ser) c.4813G>T (p.Ala1605Ser) n.1325G>T n.1662G>T c.219+355G>T (n.219+355G>T) c.325-1021G>T c.4822G>T (p.Ala1608Ser) c.4507G>T (p.Ala1503Ser) c.2404G>T (p.Ala802Ser) c.4846G>T (p.Ala1616Ser) c.4837G>T (p.Ala1613Ser) c.4828G>T (p.Ala1610Ser) c.3166G>T (p.Ala1056Ser) | |
X | g.108695277C>A | CA414132663 | COL4A5 | c.4832C>A (p.Ala1611Glu) c.4814C>A (p.Ala1605Glu) n.1326C>A n.1663C>A c.219+356C>A (n.219+356C>A) c.325-1020C>A c.4823C>A (p.Ala1608Glu) c.4508C>A (p.Ala1503Glu) c.2405C>A (p.Ala802Glu) c.4847C>A (p.Ala1616Glu) c.4838C>A (p.Ala1613Glu) c.4829C>A (p.Ala1610Glu) c.3167C>A (p.Ala1056Glu) | |
X | g.108695277C>G | CA414132662 | COL4A5 | c.4832C>G (p.Ala1611Gly) c.4814C>G (p.Ala1605Gly) n.1326C>G n.1663C>G c.219+356C>G (n.219+356C>G) c.325-1020C>G c.4823C>G (p.Ala1608Gly) c.4508C>G (p.Ala1503Gly) c.2405C>G (p.Ala802Gly) c.4847C>G (p.Ala1616Gly) c.4838C>G (p.Ala1613Gly) c.4829C>G (p.Ala1610Gly) c.3167C>G (p.Ala1056Gly) | gnomAD v4 |
X | g.108695277C>T | CA414132661 | COL4A5 | c.4832C>T (p.Ala1611Val) c.4814C>T (p.Ala1605Val) n.1326C>T n.1663C>T c.219+356C>T (n.219+356C>T) c.325-1020C>T c.4823C>T (p.Ala1608Val) c.4508C>T (p.Ala1503Val) c.2405C>T (p.Ala802Val) c.4847C>T (p.Ala1616Val) c.4838C>T (p.Ala1613Val) c.4829C>T (p.Ala1610Val) c.3167C>T (p.Ala1056Val) | |
X | g.108695278A= | CA2450721726 | COL4A5 | c.4833A= (p.Ala1611=) c.4815A= (p.Ala1605=) n.1327A= n.1664A= c.219+357A= (n.219+357A=) c.325-1019A= c.4824A= (p.Ala1608=) c.4509A= (p.Ala1503=) c.2406A= (p.Ala802=) c.4848A= (p.Ala1616=) c.4839A= (p.Ala1613=) c.4830A= (p.Ala1610=) c.3168A= (p.Ala1056=) | |
X | g.108695278A>C | CA517926058 | COL4A5 | c.4833A>C (p.Ala1611=) c.4815A>C (p.Ala1605=) n.1327A>C n.1664A>C c.219+357A>C (n.219+357A>C) c.325-1019A>C c.4824A>C (p.Ala1608=) c.4509A>C (p.Ala1503=) c.2406A>C (p.Ala802=) c.4848A>C (p.Ala1616=) c.4839A>C (p.Ala1613=) c.4830A>C (p.Ala1610=) c.3168A>C (p.Ala1056=) | |
X | g.108695278A>G | CA517926059 | COL4A5 | c.4833A>G (p.Ala1611=) c.4815A>G (p.Ala1605=) n.1327A>G n.1664A>G c.219+357A>G (n.219+357A>G) c.325-1019A>G c.4824A>G (p.Ala1608=) c.4509A>G (p.Ala1503=) c.2406A>G (p.Ala802=) c.4848A>G (p.Ala1616=) c.4839A>G (p.Ala1613=) c.4830A>G (p.Ala1610=) c.3168A>G (p.Ala1056=) | |
X | g.108695278A>T | CA517926060 | COL4A5 | c.4833A>T (p.Ala1611=) c.4815A>T (p.Ala1605=) n.1327A>T n.1664A>T c.219+357A>T (n.219+357A>T) c.325-1019A>T c.4824A>T (p.Ala1608=) c.4509A>T (p.Ala1503=) c.2406A>T (p.Ala802=) c.4848A>T (p.Ala1616=) c.4839A>T (p.Ala1613=) c.4830A>T (p.Ala1610=) c.3168A>T (p.Ala1056=) | COSMIC COSMIC |
X | g.108695279G>A | CA414132664 | COL4A5 | c.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 |
X | g.108695279G>C | CA414132666 | COL4A5 | c.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) | |
X | g.108695279G= | CA2450721727 | COL4A5 | c.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=) | |
X | g.108695279G>T | CA414132665 | COL4A5 | c.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) | |
X | g.108695282dup | CA891843704 | COL4A5 | c.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?) | |
X | g.108695282del | CA2543447048 | COL4A5 | c.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) | |
X | g.108695280G>A | CA414132667 | COL4A5 | c.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) | |
X | g.108695280G>C | CA414132668 | COL4A5 | c.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 |
X | g.108695280G>T | CA414132669 | COL4A5 | c.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) | |
X | g.108695281G>A | CA517926061 | COL4A5 | c.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 |
X | g.108695281G>C | CA517926062 | COL4A5 | c.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=) | |
X | g.108695281G>T | CA517926063 | COL4A5 | c.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=) | |
X | g.108695282G>A | CA414132670 | COL4A5 | c.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 |
X | g.108695282G>C | CA414132671 | COL4A5 | c.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) | |
X | g.108695282G>T | CA414132672 | COL4A5 | c.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) | |
X | g.108695283C>A | CA414132673 | COL4A5 | c.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 |
X | g.108695283C>G | CA414132674 | COL4A5 | c.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) | |
X | g.108695283C>T | CA414132675 | COL4A5 | c.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) | |
X | g.108695284A= | CA2450721728 | COL4A5 | c.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=) | |
X | g.108695284A>C | CA517926064 | COL4A5 | c.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=) | |
X | g.108695284A>G | CA517926065 | COL4A5 | c.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 |
X | g.108695284A>T | CA517926066 | COL4A5 | c.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=) | |
X | g.108695285G>A | CA414132676 | COL4A5 | c.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) | |
X | g.108695285G>C | CA414132677 | COL4A5 | c.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) | |
X | g.108695285G>T | CA414132678 | COL4A5 | c.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) | |
X | g.108695286A>C | CA414132681 | COL4A5 | c.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) | |
X | g.108695286A>G | CA414132679 | COL4A5 | c.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) | |
X | g.108695286A>T | CA414132680 | COL4A5 | c.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) | |
X | g.108695287A>C | CA414132682 | COL4A5 | c.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 |
X | g.108695287A>G | CA517926067 | COL4A5 | c.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=) | |
X | g.108695287A>T | CA414132683 | COL4A5 | c.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) | |
X | g.108695288G>A | CA414132684 | COL4A5 | c.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) | |
X | g.108695288G>C | CA414132685 | COL4A5 | c.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) | |
X | g.108695288G>T | CA414132686 | COL4A5 | c.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) | |
X | g.108695289G>A | CA414132687 | COL4A5 | c.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) | |
X | g.108695289G>C | CA414132688 | COL4A5 | c.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) | |
X | g.108695289G>T | CA414132689 | COL4A5 | c.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) | |
X | g.108695290C>A | CA517926070 | COL4A5 | c.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=) | |
X | g.108695290C= | CA2450721729 | COL4A5 | c.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=) | |
X | g.108695290C>G | CA517926069 | COL4A5 | c.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=) | |
X | g.108695290C>T | CA517926068 | COL4A5 | c.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 |
X | g.108695291T>A | CA414132690 | COL4A5 | c.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) | |
X | g.108695291T>C | CA334063250 | COL4A5 | c.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 |
X | g.108695291T>G | CA414132691 | COL4A5 | c.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) | |
X | g.108695291T= | CA2450721730 | COL4A5 | c.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=) | |
X | g.108695292del | CA2579677323 | COL4A5 | c.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) | |
X | g.108695292C>A | CA414132693 | COL4A5 | c.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 |
X | g.108695292C= | CA2450721731 | COL4A5 | c.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=) | |
X | g.108695292C>G | CA414132692 | COL4A5 | c.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 |
X | g.108695292C>T | CA10489438 | COL4A5 | c.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 |
X | g.108695293A= | CA2450721733 | COL4A5 | c.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=) | |
X | g.108695293A>C | CA517926071 | COL4A5 | c.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=) | |
X | g.108695293A>G | CA517926072 | COL4A5 | c.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 |
X | g.108695293A>T | CA517926073 | COL4A5 | c.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=) | |
X | g.108695293_108695294delinsAG | CA2450721732 | COL4A5 | c.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=) | |
X | g.108695294G>A | CA414132694 | COL4A5 | c.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) | |
X | g.108695294G>C | CA414132695 | COL4A5 | c.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) | |
X | g.108695294G>T | CA414132696 | COL4A5 | c.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) | |
X | g.108695295del | CA259129 | COL4A5 | c.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 |
X | g.108695295G>A | CA414132697 | COL4A5 | c.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 |
X | g.108695295G>C | CA414132698 | COL4A5 | c.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) | |
X | g.108695295G= | CA2450721734 | COL4A5 | c.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=) | |
X | g.108695295G>T | CA414132699 | COL4A5 | c.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) | |
X | g.108695296T>A | CA517926074 | COL4A5 | c.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=) | |
X | g.108695296T>C | CA517926076 | COL4A5 | c.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=) | |
X | g.108695296T>G | CA517926075 | COL4A5 | c.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=) | |
X | g.108695297C>A | CA414132700 | COL4A5 | c.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 |
X | g.108695297C>G | CA414132701 | COL4A5 | c.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) | |
X | g.108695297C>T | CA414132702 | COL4A5 | c.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) | |
X | g.108695298A>C | CA414132703 | COL4A5 | c.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) | |
X | g.108695298A>G | CA414132704 | COL4A5 | c.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) | |
X | g.108695298A>T | CA414132705 | COL4A5 | c.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) | |
X | g.108695299A>C | CA414132707 | COL4A5 | c.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) | |
X | g.108695299A>G | CA517926077 | COL4A5 | c.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=) | |
X | g.108695299A>T | CA414132706 | COL4A5 | c.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) | |
X | g.108695300G>A | CA414132708 | COL4A5 | c.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) | |
X | g.108695300G>C | CA414132709 | COL4A5 | c.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) | |
X | g.108695300G>T | CA414132710 | COL4A5 | c.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 |
X | g.108695301C>A | CA414132711 | COL4A5 | c.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) | |
X | g.108695301C>G | CA414132712 | COL4A5 | c.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) | |
X | g.108695301C>T | CA414132713 | COL4A5 | c.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 |
X | g.108695302C>A | CA517926078 | COL4A5 | c.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=) | |
X | g.108695302C>G | CA517926079 | COL4A5 | c.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=) | |
X | g.108695302C>T | CA517926080 | COL4A5 | c.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 |
X | g.108695303C>A | CA414132714 | COL4A5 | c.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) | |
X | g.108695303C>G | CA414132715 | COL4A5 | c.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) | |
X | g.108695303C>T | CA517926081 | COL4A5 | c.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=) | |
X | g.108695304T>A | CA414132716 | COL4A5 | c.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) | |
X | g.108695304T>C | CA414132717 | COL4A5 | c.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) | |
X | g.108695304T>G | CA414132718 | COL4A5 | c.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) | |
X | g.108695305A>C | CA517926084 | COL4A5 | c.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=) | |
X | g.108695305A>G | CA517926083 | COL4A5 | c.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=) | |
X | g.108695305A>T | CA517926082 | COL4A5 | c.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=) | |
X | g.108695306G>A | CA414132719 | COL4A5 | c.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 |
X | g.108695306G>C | CA414132720 | COL4A5 | c.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) | |
X | g.108695306G= | CA2450721735 | COL4A5 | c.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=) | |
X | g.108695306G>T | CA414132721 | COL4A5 | c.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) | |
X | g.108695307C>A | CA414132723 | COL4A5 | c.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) | |
X | g.108695307C= | CA2450721736 | COL4A5 | c.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=) | |
X | g.108695307C>G | CA414132722 | COL4A5 | c.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) | |
X | g.108695307C>T | CA10489439 | COL4A5 | c.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 |
X | g.108695308C>A | CA517926085 | COL4A5 | c.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=) | |
X | g.108695308C>G | CA517926086 | COL4A5 | c.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=) | |
X | g.108695308C>T | CA517926087 | COL4A5 | c.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=) | |
X | g.108695309T>A | CA414132725 | COL4A5 | c.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) | |
X | g.108695309T>C | CA414132724 | COL4A5 | c.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) | |
X | g.108695309T>G | CA414132726 | COL4A5 | c.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) | |
X | g.108695310C>A | CA414132727 | COL4A5 | c.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) | |
X | g.108695310C= | CA2450721737 | COL4A5 | c.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=) | |
X | g.108695310C>G | CA414132728 | COL4A5 | c.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) | |
X | g.108695310C>T | CA10489440 | COL4A5 | c.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 |
X | g.108695311C>A | CA517926088 | COL4A5 | c.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=) | |
X | g.108695311C= | CA2450721738 | COL4A5 | c.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=) | |
X | g.108695311C>G | CA517926089 | COL4A5 | c.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=) | |
X | g.108695311C>T | CA334063292 | COL4A5 | c.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 |
X | g.108695312C>A | CA414132730 | COL4A5 | c.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) | |
X | g.108695312C= | CA2450721739 | COL4A5 | c.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=) | |
X | g.108695312C>G | CA414132729 | COL4A5 | c.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) | |
X | g.108695312C>T | CA10489441 | COL4A5 | c.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 |
X | g.108695313C>A | CA414132731 | COL4A5 | c.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) | |
X | g.108695313C>G | CA414132732 | COL4A5 | c.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) | |
X | g.108695313C>T | CA414132733 | COL4A5 | c.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) | |
X | g.108695314T>A | CA517926090 | COL4A5 | c.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=) | |
X | g.108695314T>C | CA517926091 | COL4A5 | c.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 |
X | g.108695314T>G | CA517926092 | COL4A5 | c.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=) | |
X | g.108695314T= | CA2450721740 | COL4A5 | c.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=) | |
X | g.108695315G>A | CA414132734 | COL4A5 | c.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) | |
X | g.108695315G>C | CA414132735 | COL4A5 | c.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) | |
X | g.108695315G>T | CA414132736 | COL4A5 | c.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) | |
X | g.108695316del | CA2580100250 | COL4A5 | c.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 |
X | g.108695316G>A | CA414132737 | COL4A5 | c.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) | |
X | g.108695316G>C | CA414132738 | COL4A5 | c.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 |
X | g.108695316G= | CA2450721741 | COL4A5 | c.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=) | |
X | g.108695316G>T | CA414132739 | COL4A5 | c.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 |
X | g.108695317T>A | CA517926093 | COL4A5 | c.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=) | |
X | g.108695317T>C | CA517926094 | COL4A5 | c.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=) | |
X | g.108695317T>G | CA517926095 | COL4A5 | c.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 |
X | g.108695317T= | CA2450721742 | COL4A5 | c.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=) | |
X | g.108695318T>A | CA414132740 | COL4A5 | c.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) | |
X | g.108695318T>C | CA414132741 | COL4A5 | c.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) | |
X | g.108695318T>G | CA414132742 | COL4A5 | c.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) | |
X | g.108695319C>A | CA414132745 | COL4A5 | c.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) | |
X | g.108695319C>G | CA414132743 | COL4A5 | c.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) | |
X | g.108695319C>T | CA414132744 | COL4A5 | c.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) | |
X | g.108695320C>A | CA517926096 | COL4A5 | c.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=) | |
X | g.108695320C>G | CA517926097 | COL4A5 | c.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=) | |
X | g.108695320C>T | CA517926098 | COL4A5 | c.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 |
X | g.108695321T>A | CA414132746 | COL4A5 | c.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 |
X | g.108695321T>C | CA414132747 | COL4A5 | c.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) | |
X | g.108695321T>G | CA414132748 | COL4A5 | c.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) | |
X | g.108695321T= | CA2450721743 | COL4A5 | c.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=) | |
X | g.108695322G>A | CA414132749 | COL4A5 | c.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 |
X | g.108695322G>C | CA414132750 | COL4A5 | c.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) | |
X | g.108695322G>T | CA414132751 | COL4A5 | c.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) | |
X | g.108695323C>A | CA414132752 | COL4A5 | c.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) | |
X | g.108695323C>G | CA414132753 | COL4A5 | c.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) | |
X | g.108695323C>T | CA517926099 | COL4A5 | c.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=) | |
X | g.108695324T>A | CA414132754 | COL4A5 | c.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) | |
X | g.108695324T>C | CA517926100 | COL4A5 | c.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=) | |
X | g.108695324T>G | CA414132755 | COL4A5 | c.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) | |
X | g.108695325T>A | CA414132758 | COL4A5 | c.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) | |
X | g.108695325T>C | CA414132757 | COL4A5 | c.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) | |
X | g.108695325T>G | CA414132756 | COL4A5 | c.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) | |
X | g.108695325T= | CA2450721744 | COL4A5 | c.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=) | |
X | g.108695326G>A | CA517926101 | COL4A5 | c.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=) | |
X | g.108695326G>C | CA414132759 | COL4A5 | c.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) | |
X | g.108695326G>T | CA414132760 | COL4A5 | c.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) | |
X | g.108695327G>A | CA414132761 | COL4A5 | c.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 |
X | g.108695327G>C | CA414132762 | COL4A5 | c.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) | |
X | g.108695327G>T | CA414132763 | COL4A5 | c.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) | |
X | g.108695328A>C | CA414132764 | COL4A5 | c.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) | |
X | g.108695328A>G | CA414132765 | COL4A5 | c.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) | |
X | g.108695328A>T | CA414132766 | COL4A5 | c.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) | |
X | g.108695329A>C | CA414132767 | COL4A5 | c.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) | |
X | g.108695329A>G | CA517926102 | COL4A5 | c.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=) | |
X | g.108695329A>T | CA414132768 | COL4A5 | c.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) | |
X | g.108695330G>A | CA414132769 | COL4A5 | c.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 |
X | g.108695330G>C | CA414132770 | COL4A5 | c.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) | |
X | g.108695330G>T | CA414132771 | COL4A5 | c.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) | |
X | g.108695330_108695343dup | CA2695235251 | COL4A5 | c.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) | |
X | g.108695331A>C | CA414132772 | COL4A5 | c.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) | |
X | g.108695331A>G | CA414132774 | COL4A5 | c.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) | |
X | g.108695331A>T | CA414132773 | COL4A5 | c.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) | |
X | g.108695332G>A | CA517926103 | COL4A5 | c.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 |
X | g.108695332G>C | CA414132775 | COL4A5 | c.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) | |
X | g.108695332G= | CA2450721745 | COL4A5 | c.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=) | |
X | g.108695332G>T | CA414132776 | COL4A5 | c.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) | |
X | g.108695333T>A | CA414132777 | COL4A5 | c.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) | |
X | g.108695333T>C | CA414132778 | COL4A5 | c.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) | |
X | g.108695333T>G | CA414132779 | COL4A5 | c.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) | |
X | g.108695334T>A | CA414132780 | COL4A5 | c.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) | |
X | g.108695334T>C | CA414132781 | COL4A5 | c.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) | |
X | g.108695334T>G | CA414132782 | COL4A5 | c.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) | |
X | g.108695337_108695340del | CA2739273724 | COL4A5 | c.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 |
X | g.108695335T>A | CA414132783 | COL4A5 | c.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) | |
X | g.108695335T>C | CA10489442 | COL4A5 | c.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 |
X | g.108695335T>G | CA414132784 | COL4A5 | c.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 |
X | g.108695335T= | CA2450721746 | COL4A5 | c.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=) | |
X | g.108695336C>A | CA414132785 | COL4A5 | c.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) | |
X | g.108695336C= | CA2450721747 | COL4A5 | c.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=) | |
X | g.108695336C>G | CA414132786 | COL4A5 | c.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) | |
X | g.108695336C>T | CA334063315 | COL4A5 | c.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 |
X | g.108695337G>A | CA10489443 | COL4A5 | c.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 |
X | g.108695337G>C | CA414132787 | COL4A5 | c.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) | |
X | g.108695337G= | CA2450721748 | COL4A5 | c.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=) | |
X | g.108695337G>T | CA414132788 | COL4A5 | c.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 |
X | g.108695338T>A | CA517926104 | COL4A5 | c.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=) | |
X | g.108695338T>C | CA517926106 | COL4A5 | c.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 |
X | g.108695338T>G | CA517926105 | COL4A5 | c.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=) | |
X | g.108695339T>A | CA414132789 | COL4A5 | c.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) | |
X | g.108695339T>C | CA414132790 | COL4A5 | c.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 |
X | g.108695339T>G | CA414132791 | COL4A5 | c.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) | |
X | g.108695340C>A | CA414132792 | COL4A5 | c.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) | |
X | g.108695340C= | CA2450721749 | COL4A5 | c.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=) | |
X | g.108695340C>G | CA414132793 | COL4A5 | c.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) | |
X | g.108695340C>T | CA414132794 | COL4A5 | c.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 |
X | g.108695341A>C | CA517926107 | COL4A5 | c.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=) | |
X | g.108695341A>G | CA517926108 | COL4A5 | c.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 |
X | g.108695341A>T | CA517926109 | COL4A5 | c.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=) | |
X | g.108695342G>A | CA414132795 | COL4A5 | c.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) | |
X | g.108695342G>C | CA414132796 | COL4A5 | c.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) | |
X | g.108695342G>T | CA414132797 | COL4A5 | c.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) | |
X | g.108695342_108695346delinsGCTCC | CA2450721750 | COL4A5 | c.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=) | |
X | g.108695343C>A | CA414132799 | COL4A5 | c.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) | |
X | g.108695343C= | CA2450721751 | COL4A5 | c.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=) | |
X | g.108695343C>G | CA414132798 | COL4A5 | c.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) | |
X | g.108695343C>T | CA334063356 | COL4A5 | c.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 |
X | g.108695345_108695348del | CA10588942 | COL4A5 | c.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 |
X | g.108695344T>A | CA517926110 | COL4A5 | c.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=) | |
X | g.108695344T>C | CA517926111 | COL4A5 | c.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=) | |
X | g.108695344T>G | CA517926112 | COL4A5 | c.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=) | |
X | g.108695345C>A | CA414132800 | COL4A5 | c.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) | |
X | g.108695345C>G | CA414132801 | COL4A5 | c.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) | |
X | g.108695345C>T | CA414132802 | COL4A5 | c.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 |
X | g.108695346C>A | CA414132803 | COL4A5 | c.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) | |
X | g.108695346C>G | CA414132804 | COL4A5 | c.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) | |
X | g.108695346C>T | CA414132805 | COL4A5 | c.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 |
X | g.108695347C>A | CA517926115 | COL4A5 | c.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=) | |
X | g.108695347C= | CA2450721752 | COL4A5 | c.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=) | |
X | g.108695347C>G | CA517926114 | COL4A5 | c.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=) | |
X | g.108695347C>T | CA517926113 | COL4A5 | c.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 |
X | g.108695348T>A | CA414132806 | COL4A5 | c.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) | |
X | g.108695348T>C | CA414132807 | COL4A5 | c.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) | |
X | g.108695348T>G | CA414132808 | COL4A5 | c.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) | |
X | g.108695349T>A | CA414132809 | COL4A5 | c.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) | |
X | g.108695349T>C | CA414132810 | COL4A5 | c.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) | |
X | g.108695349T>G | CA414132811 | COL4A5 | c.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) | |
X | g.108695350C>A | CA414132813 | COL4A5 | c.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) | |
X | g.108695350C= | CA2450721753 | COL4A5 | c.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=) | |
X | g.108695350C>G | CA414132812 | COL4A5 | c.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) | |
X | g.108695350C>T | CA517926116 | COL4A5 | c.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=) | |
X | g.108695352_108695413del | CA2695235252 | COL4A5 | c.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) | |
X | g.108695351A>C | CA414132814 | COL4A5 | c.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) | |
X | g.108695351A>G | CA414132815 | COL4A5 | c.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) | |
X | g.108695351A>T | CA414132816 | COL4A5 | c.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) | |
X | g.108695351dup | CA658799837 | COL4A5 | c.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 |
X | g.108695352T>A | CA414132817 | COL4A5 | c.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) | |
X | g.108695352T>C | CA414132818 | COL4A5 | c.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) | |
X | g.108695352T>G | CA414132819 | COL4A5 | c.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) | |
X | g.108695353C>A | CA517926117 | COL4A5 | c.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=) | |
X | g.108695353C= | CA2450721754 | COL4A5 | c.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=) | |
X | g.108695353C>G | CA414132820 | COL4A5 | c.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) | |
X | g.108695353C>T | CA10489444 | COL4A5 | c.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 |
X | g.108695354G>A | CA414132821 | COL4A5 | c.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 |
X | g.108695354G>C | CA414132822 | COL4A5 | c.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) | |
X | g.108695354G>T | CA414132823 | COL4A5 | c.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) | |
X | g.108695355A>C | CA414132824 | COL4A5 | c.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) | |
X | g.108695355A>G | CA414132825 | COL4A5 | c.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 |
X | g.108695355A>T | CA414132826 | COL4A5 | c.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) | |
X | g.108695356A>C | CA414132828 | COL4A5 | c.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) | |
X | g.108695356A>G | CA517926118 | COL4A5 | c.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 |
X | g.108695356A>T | CA414132827 | COL4A5 | c.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) | |
X | g.108695357T>A | CA414132829 | COL4A5 | c.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 |
X | g.108695357T>C | CA414132830 | COL4A5 | c.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 |
X | g.108695357T>G | CA259130 | COL4A5 | c.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 |
X | g.108695357T= | CA2450721755 | COL4A5 | c.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=) | |
X | g.108695358G>A | CA414132831 | COL4A5 | c.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 |
X | g.108695358G>C | CA414132832 | COL4A5 | c.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) | |
X | g.108695358G= | CA2450721756 | COL4A5 | c.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=) | |
X | g.108695358G>T | CA414132833 | COL4A5 | c.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) | |
X | g.108695359T>A | CA414132834 | COL4A5 | c.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) | |
X | g.108695359T>C | CA517926119 | COL4A5 | c.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=) | |
X | g.108695359T>G | CA414132835 | COL4A5 | c.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) | |
X | g.108695359T= | CA2450721757 | COL4A5 | c.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=) | |
X | g.108695360C>A | CA414132836 | COL4A5 | c.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) | |
X | g.108695360C= | CA2450721758 | COL4A5 | c.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=) | |
X | g.108695360C>G | CA414132837 | COL4A5 | c.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) | |
X | g.108695360C>T | CA414132838 | COL4A5 | c.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 |
X | g.108695361A= | CA2450721759 | COL4A5 | c.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=) | |
X | g.108695361A>C | CA414132839 | COL4A5 | c.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 |
X | g.108695361A>G | CA334063385 | COL4A5 | c.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 |
X | g.108695361A>T | CA414132840 | COL4A5 | c.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) | |
X | g.108695362T>A | CA414132842 | COL4A5 | c.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) | |
X | g.108695362T>C | CA517926120 | COL4A5 | c.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=) | |
X | g.108695362T>G | CA414132841 | COL4A5 | c.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) | |
X | g.108695362dup | CA2695235253 | COL4A5 | c.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) | |
X | g.108695363G>A | CA414132843 | COL4A5 | c.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 |
X | g.108695363G>C | CA414132845 | COL4A5 | c.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) | |
X | g.108695363G>T | CA414132844 | COL4A5 | c.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 |
X | g.108695364G>A | CA414132846 | COL4A5 | c.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 |
X | g.108695364G>C | CA414132848 | COL4A5 | c.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) | |
X | g.108695364G= | CA2450721760 | COL4A5 | c.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=) | |
X | g.108695364G>T | CA414132847 | COL4A5 | c.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) | |
X | g.108695365G>A | CA517926121 | COL4A5 | c.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=) | |
X | g.108695365G>C | CA517926122 | COL4A5 | c.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=) | |
X | g.108695365G>T | CA517926123 | COL4A5 | c.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=) | |
X | g.108695366A>C | CA517926124 | COL4A5 | c.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=) | |
X | g.108695366A>G | CA414132849 | COL4A5 | c.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) | |
X | g.108695366A>T | CA414132850 | COL4A5 | c.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) | |
X | g.108695367G>A | CA414132851 | COL4A5 | c.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 |
X | g.108695367G>C | CA414132852 | COL4A5 | c.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) | |
X | g.108695367G>T | CA414132853 | COL4A5 | c.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) | |
X | g.108695368G>A | CA517926125 | COL4A5 | c.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 |
X | g.108695368G>C | CA414132854 | COL4A5 | c.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) | |
X | g.108695368G>T | CA414132855 | COL4A5 | c.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) | |
X | g.108695369G>A | CA414132856 | COL4A5 | c.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) | |
X | g.108695369G>C | CA414132857 | COL4A5 | c.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) | |
X | g.108695369G>T | CA414132858 | COL4A5 | c.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 |
X | g.108695369_108695431delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC | CA2450721761 | COL4A5 | c.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=) | |
X | g.108695370G>A | CA414132861 | COL4A5 | c.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 |
X | g.108695370G>C | CA414132860 | COL4A5 | c.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) | |
X | g.108695370G>T | CA414132859 | COL4A5 | c.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) | |
X | g.108695370_108695431del | CA1139667751 | COL4A5 | c.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 |
X | g.108695371T>A | CA517926126 | COL4A5 | c.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=) | |
X | g.108695371T>C | CA517926127 | COL4A5 | c.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=) | |
X | g.108695371T>G | CA517926128 | COL4A5 | c.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=) | |
X | g.108695372A>C | CA414132862 | COL4A5 | c.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) | |
X | g.108695372A>G | CA414132863 | COL4A5 | c.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) | |
X | g.108695372A>T | CA414132864 | COL4A5 | c.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) | |
X | g.108695373C>A | CA414132865 | COL4A5 | c.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 |
X | g.108695373C= | CA2450721762 | COL4A5 | c.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=) | |
X | g.108695373C>G | CA414132866 | COL4A5 | c.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) | |
X | g.108695373C>T | CA414132867 | COL4A5 | c.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 |