UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108695269T>A | CA414132644 | COL4A5 | c.4824T>A (p.His1608Gln) c.4806T>A (p.His1602Gln) n.1318T>A n.1655T>A c.219+348T>A (n.219+348T>A) c.325-1028T>A c.4815T>A (p.His1605Gln) c.4500T>A (p.His1500Gln) c.2397T>A (p.His799Gln) c.4839T>A (p.His1613Gln) c.4830T>A (p.His1610Gln) c.4821T>A (p.His1607Gln) c.3159T>A (p.His1053Gln) | |
| X | g.108695269T>C | CA517926053 | COL4A5 | c.4824T>C (p.His1608=) c.4806T>C (p.His1602=) n.1318T>C n.1655T>C c.219+348T>C (n.219+348T>C) c.325-1028T>C c.4815T>C (p.His1605=) c.4500T>C (p.His1500=) c.2397T>C (p.His799=) c.4839T>C (p.His1613=) c.4830T>C (p.His1610=) c.4821T>C (p.His1607=) c.3159T>C (p.His1053=) | |
| X | g.108695269T>G | CA414132645 | COL4A5 | c.4824T>G (p.His1608Gln) c.4806T>G (p.His1602Gln) n.1318T>G n.1655T>G c.219+348T>G (n.219+348T>G) c.325-1028T>G c.4815T>G (p.His1605Gln) c.4500T>G (p.His1500Gln) c.2397T>G (p.His799Gln) c.4839T>G (p.His1613Gln) c.4830T>G (p.His1610Gln) c.4821T>G (p.His1607Gln) c.3159T>G (p.His1053Gln) | |
| X | g.108695270A= | CA2450721722 | COL4A5 | c.4825A= (p.Thr1609=) c.4807A= (p.Thr1603=) n.1319A= n.1656A= c.219+349A= (n.219+349A=) c.325-1027A= c.4816A= (p.Thr1606=) c.4501A= (p.Thr1501=) c.2398A= (p.Thr800=) c.4840A= (p.Thr1614=) c.4831A= (p.Thr1611=) c.4822A= (p.Thr1608=) c.3160A= (p.Thr1054=) | |
| X | g.108695270A>C | CA414132646 | COL4A5 | c.4825A>C (p.Thr1609Pro) c.4807A>C (p.Thr1603Pro) n.1319A>C n.1656A>C c.219+349A>C (n.219+349A>C) c.325-1027A>C c.4816A>C (p.Thr1606Pro) c.4501A>C (p.Thr1501Pro) c.2398A>C (p.Thr800Pro) c.4840A>C (p.Thr1614Pro) c.4831A>C (p.Thr1611Pro) c.4822A>C (p.Thr1608Pro) c.3160A>C (p.Thr1054Pro) | |
| X | g.108695270A>G | CA10489436 | COL4A5 | c.4825A>G (p.Thr1609Ala) c.4807A>G (p.Thr1603Ala) n.1319A>G n.1656A>G c.219+349A>G (n.219+349A>G) c.325-1027A>G c.4816A>G (p.Thr1606Ala) c.4501A>G (p.Thr1501Ala) c.2398A>G (p.Thr800Ala) c.4840A>G (p.Thr1614Ala) c.4831A>G (p.Thr1611Ala) c.4822A>G (p.Thr1608Ala) c.3160A>G (p.Thr1054Ala) | dbSNP ExAC gnomAD v4 |
| X | g.108695270A>T | CA414132647 | COL4A5 | c.4825A>T (p.Thr1609Ser) c.4807A>T (p.Thr1603Ser) n.1319A>T n.1656A>T c.219+349A>T (n.219+349A>T) c.325-1027A>T c.4816A>T (p.Thr1606Ser) c.4501A>T (p.Thr1501Ser) c.2398A>T (p.Thr800Ser) c.4840A>T (p.Thr1614Ser) c.4831A>T (p.Thr1611Ser) c.4822A>T (p.Thr1608Ser) c.3160A>T (p.Thr1054Ser) | COSMIC COSMIC |
| X | g.108695271C>A | CA414132648 | COL4A5 | c.4826C>A (p.Thr1609Lys) c.4808C>A (p.Thr1603Lys) n.1320C>A n.1657C>A c.219+350C>A (n.219+350C>A) c.325-1026C>A c.4817C>A (p.Thr1606Lys) c.4502C>A (p.Thr1501Lys) c.2399C>A (p.Thr800Lys) c.4841C>A (p.Thr1614Lys) c.4832C>A (p.Thr1611Lys) c.4823C>A (p.Thr1608Lys) c.3161C>A (p.Thr1054Lys) | |
| X | g.108695271C>G | CA414132650 | COL4A5 | c.4826C>G (p.Thr1609Arg) c.4808C>G (p.Thr1603Arg) n.1320C>G n.1657C>G c.219+350C>G (n.219+350C>G) c.325-1026C>G c.4817C>G (p.Thr1606Arg) c.4502C>G (p.Thr1501Arg) c.2399C>G (p.Thr800Arg) c.4841C>G (p.Thr1614Arg) c.4832C>G (p.Thr1611Arg) c.4823C>G (p.Thr1608Arg) c.3161C>G (p.Thr1054Arg) | |
| X | g.108695271C>T | CA414132649 | COL4A5 | c.4826C>T (p.Thr1609Ile) c.4808C>T (p.Thr1603Ile) n.1320C>T n.1657C>T c.219+350C>T (n.219+350C>T) c.325-1026C>T c.4817C>T (p.Thr1606Ile) c.4502C>T (p.Thr1501Ile) c.2399C>T (p.Thr800Ile) c.4841C>T (p.Thr1614Ile) c.4832C>T (p.Thr1611Ile) c.4823C>T (p.Thr1608Ile) c.3161C>T (p.Thr1054Ile) | |
| X | g.108695272A>C | CA517926054 | COL4A5 | c.4827A>C (p.Thr1609=) c.4809A>C (p.Thr1603=) n.1321A>C n.1658A>C c.219+351A>C (n.219+351A>C) c.325-1025A>C c.4818A>C (p.Thr1606=) c.4503A>C (p.Thr1501=) c.2400A>C (p.Thr800=) c.4842A>C (p.Thr1614=) c.4833A>C (p.Thr1611=) c.4824A>C (p.Thr1608=) c.3162A>C (p.Thr1054=) | |
| X | g.108695272A>G | CA517926055 | COL4A5 | c.4827A>G (p.Thr1609=) c.4809A>G (p.Thr1603=) n.1321A>G n.1658A>G c.219+351A>G (n.219+351A>G) c.325-1025A>G c.4818A>G (p.Thr1606=) c.4503A>G (p.Thr1501=) c.2400A>G (p.Thr800=) c.4842A>G (p.Thr1614=) c.4833A>G (p.Thr1611=) c.4824A>G (p.Thr1608=) c.3162A>G (p.Thr1054=) | |
| X | g.108695272A>T | CA517926056 | COL4A5 | c.4827A>T (p.Thr1609=) c.4809A>T (p.Thr1603=) n.1321A>T n.1658A>T c.219+351A>T (n.219+351A>T) c.325-1025A>T c.4818A>T (p.Thr1606=) c.4503A>T (p.Thr1501=) c.2400A>T (p.Thr800=) c.4842A>T (p.Thr1614=) c.4833A>T (p.Thr1611=) c.4824A>T (p.Thr1608=) c.3162A>T (p.Thr1054=) | |
| 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) |