| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108694875G>A | CA414132525 | COL4A5 | c.4775G>A (p.Cys1592Tyr) c.4757G>A (p.Cys1586Tyr) n.1269G>A n.1261G>A c.173G>A (p.Cys58Tyr) c.325-1422G>A c.4766G>A (p.Cys1589Tyr) c.4451G>A (p.Cys1484Tyr) c.2348G>A (p.Cys783Tyr) c.4790G>A (p.Cys1597Tyr) c.4781G>A (p.Cys1594Tyr) c.4772G>A (p.Cys1591Tyr) c.3110G>A (p.Cys1037Tyr) | |
| X | g.108694875G>C | CA414132526 | COL4A5 | c.4775G>C (p.Cys1592Ser) c.4757G>C (p.Cys1586Ser) n.1269G>C n.1261G>C c.173G>C (p.Cys58Ser) c.325-1422G>C c.4766G>C (p.Cys1589Ser) c.4451G>C (p.Cys1484Ser) c.2348G>C (p.Cys783Ser) c.4790G>C (p.Cys1597Ser) c.4781G>C (p.Cys1594Ser) c.4772G>C (p.Cys1591Ser) c.3110G>C (p.Cys1037Ser) | |
| X | g.108694875G= | CA2450721597 | COL4A5 | c.4775G= (p.Cys1592=) c.4757G= (p.Cys1586=) n.1269G= n.1261G= c.173G= (p.Cys58=) c.325-1422G= c.4766G= (p.Cys1589=) c.4451G= (p.Cys1484=) c.2348G= (p.Cys783=) c.4790G= (p.Cys1597=) c.4781G= (p.Cys1594=) c.4772G= (p.Cys1591=) c.3110G= (p.Cys1037=) | |
| X | g.108694875G>T | CA259106 | COL4A5 | c.4775G>T (p.Cys1592Phe) c.4757G>T (p.Cys1586Phe) n.1269G>T n.1261G>T c.173G>T (p.Cys58Phe) c.325-1422G>T c.4766G>T (p.Cys1589Phe) c.4451G>T (p.Cys1484Phe) c.2348G>T (p.Cys783Phe) c.4790G>T (p.Cys1597Phe) c.4781G>T (p.Cys1594Phe) c.4772G>T (p.Cys1591Phe) c.3110G>T (p.Cys1037Phe) | dbSNP |
| X | g.108694876T>A | CA414132528 | COL4A5 | c.4776T>A (p.Cys1592Ter) c.4758T>A (p.Cys1586Ter) n.1270T>A n.1262T>A c.174T>A (p.Cys58Ter) c.325-1421T>A c.4767T>A (p.Cys1589Ter) c.4452T>A (p.Cys1484Ter) c.2349T>A (p.Cys783Ter) c.4791T>A (p.Cys1597Ter) c.4782T>A (p.Cys1594Ter) c.4773T>A (p.Cys1591Ter) c.3111T>A (p.Cys1037Ter) | |
| X | g.108694876T>C | CA517925822 | COL4A5 | c.4776T>C (p.Cys1592=) c.4758T>C (p.Cys1586=) n.1270T>C n.1262T>C c.174T>C (p.Cys58=) c.325-1421T>C c.4767T>C (p.Cys1589=) c.4452T>C (p.Cys1484=) c.2349T>C (p.Cys783=) c.4791T>C (p.Cys1597=) c.4782T>C (p.Cys1594=) c.4773T>C (p.Cys1591=) c.3111T>C (p.Cys1037=) | |
| X | g.108694876T>G | CA414132527 | COL4A5 | c.4776T>G (p.Cys1592Trp) c.4758T>G (p.Cys1586Trp) n.1270T>G n.1262T>G c.174T>G (p.Cys58Trp) c.325-1421T>G c.4767T>G (p.Cys1589Trp) c.4452T>G (p.Cys1484Trp) c.2349T>G (p.Cys783Trp) c.4791T>G (p.Cys1597Trp) c.4782T>G (p.Cys1594Trp) c.4773T>G (p.Cys1591Trp) c.3111T>G (p.Cys1037Trp) | |
| X | g.108694877C>A | CA414132529 | COL4A5 | c.4777C>A (p.Pro1593Thr) c.4759C>A (p.Pro1587Thr) n.1271C>A n.1263C>A c.175C>A (p.Pro59Thr) c.325-1420C>A c.4768C>A (p.Pro1590Thr) c.4453C>A (p.Pro1485Thr) c.2350C>A (p.Pro784Thr) c.4792C>A (p.Pro1598Thr) c.4783C>A (p.Pro1595Thr) c.4774C>A (p.Pro1592Thr) c.3112C>A (p.Pro1038Thr) | |
| X | g.108694877C>G | CA414132530 | COL4A5 | c.4777C>G (p.Pro1593Ala) c.4759C>G (p.Pro1587Ala) n.1271C>G n.1263C>G c.175C>G (p.Pro59Ala) c.325-1420C>G c.4768C>G (p.Pro1590Ala) c.4453C>G (p.Pro1485Ala) c.2350C>G (p.Pro784Ala) c.4792C>G (p.Pro1598Ala) c.4783C>G (p.Pro1595Ala) c.4774C>G (p.Pro1592Ala) c.3112C>G (p.Pro1038Ala) | |
| X | g.108694877C>T | CA414132531 | COL4A5 | c.4777C>T (p.Pro1593Ser) c.4759C>T (p.Pro1587Ser) n.1271C>T n.1263C>T c.175C>T (p.Pro59Ser) c.325-1420C>T c.4768C>T (p.Pro1590Ser) c.4453C>T (p.Pro1485Ser) c.2350C>T (p.Pro784Ser) c.4792C>T (p.Pro1598Ser) c.4783C>T (p.Pro1595Ser) c.4774C>T (p.Pro1592Ser) c.3112C>T (p.Pro1038Ser) | gnomAD v4 |
| X | g.108694878C>A | CA414132532 | COL4A5 | c.4778C>A (p.Pro1593His) c.4760C>A (p.Pro1587His) n.1272C>A n.1264C>A c.176C>A (p.Pro59His) c.325-1419C>A c.4769C>A (p.Pro1590His) c.4454C>A (p.Pro1485His) c.2351C>A (p.Pro784His) c.4793C>A (p.Pro1598His) c.4784C>A (p.Pro1595His) c.4775C>A (p.Pro1592His) c.3113C>A (p.Pro1038His) | |
| X | g.108694878C>G | CA414132533 | COL4A5 | c.4778C>G (p.Pro1593Arg) c.4760C>G (p.Pro1587Arg) n.1272C>G n.1264C>G c.176C>G (p.Pro59Arg) c.325-1419C>G c.4769C>G (p.Pro1590Arg) c.4454C>G (p.Pro1485Arg) c.2351C>G (p.Pro784Arg) c.4793C>G (p.Pro1598Arg) c.4784C>G (p.Pro1595Arg) c.4775C>G (p.Pro1592Arg) c.3113C>G (p.Pro1038Arg) | |
| X | g.108694878C>T | CA414132534 | COL4A5 | c.4778C>T (p.Pro1593Leu) c.4760C>T (p.Pro1587Leu) n.1272C>T n.1264C>T c.176C>T (p.Pro59Leu) c.325-1419C>T c.4769C>T (p.Pro1590Leu) c.4454C>T (p.Pro1485Leu) c.2351C>T (p.Pro784Leu) c.4793C>T (p.Pro1598Leu) c.4784C>T (p.Pro1595Leu) c.4775C>T (p.Pro1592Leu) c.3113C>T (p.Pro1038Leu) | gnomAD v4 |
| X | g.108694879T>A | CA517925837 | COL4A5 | c.4779T>A (p.Pro1593=) c.4761T>A (p.Pro1587=) n.1273T>A n.1265T>A c.177T>A (p.Pro59=) c.325-1418T>A c.4770T>A (p.Pro1590=) c.4455T>A (p.Pro1485=) c.2352T>A (p.Pro784=) c.4794T>A (p.Pro1598=) c.4785T>A (p.Pro1595=) c.4776T>A (p.Pro1592=) c.3114T>A (p.Pro1038=) | |
| X | g.108694879T>C | CA517925841 | COL4A5 | c.4779T>C (p.Pro1593=) c.4761T>C (p.Pro1587=) n.1273T>C n.1265T>C c.177T>C (p.Pro59=) c.325-1418T>C c.4770T>C (p.Pro1590=) c.4455T>C (p.Pro1485=) c.2352T>C (p.Pro784=) c.4794T>C (p.Pro1598=) c.4785T>C (p.Pro1595=) c.4776T>C (p.Pro1592=) c.3114T>C (p.Pro1038=) | |
| X | g.108694879T>G | CA517925839 | COL4A5 | c.4779T>G (p.Pro1593=) c.4761T>G (p.Pro1587=) n.1273T>G n.1265T>G c.177T>G (p.Pro59=) c.325-1418T>G c.4770T>G (p.Pro1590=) c.4455T>G (p.Pro1485=) c.2352T>G (p.Pro784=) c.4794T>G (p.Pro1598=) c.4785T>G (p.Pro1595=) c.4776T>G (p.Pro1592=) c.3114T>G (p.Pro1038=) | |
| X | g.108694880C>A | CA414132535 | COL4A5 | c.4780C>A (p.Gln1594Lys) c.4762C>A (p.Gln1588Lys) n.1274C>A n.1266C>A c.178C>A (p.Gln60Lys) c.325-1417C>A c.4771C>A (p.Gln1591Lys) c.4456C>A (p.Gln1486Lys) c.2353C>A (p.Gln785Lys) c.4795C>A (p.Gln1599Lys) c.4786C>A (p.Gln1596Lys) c.4777C>A (p.Gln1593Lys) c.3115C>A (p.Gln1039Lys) | |
| X | g.108694880C= | CA2450721598 | COL4A5 | c.4780C= (p.Gln1594=) c.4762C= (p.Gln1588=) n.1274C= n.1266C= c.178C= (p.Gln60=) c.325-1417C= c.4771C= (p.Gln1591=) c.4456C= (p.Gln1486=) c.2353C= (p.Gln785=) c.4795C= (p.Gln1599=) c.4786C= (p.Gln1596=) c.4777C= (p.Gln1593=) c.3115C= (p.Gln1039=) | |
| X | g.108694880C>G | CA414132537 | COL4A5 | c.4780C>G (p.Gln1594Glu) c.4762C>G (p.Gln1588Glu) n.1274C>G n.1266C>G c.178C>G (p.Gln60Glu) c.325-1417C>G c.4771C>G (p.Gln1591Glu) c.4456C>G (p.Gln1486Glu) c.2353C>G (p.Gln785Glu) c.4795C>G (p.Gln1599Glu) c.4786C>G (p.Gln1596Glu) c.4777C>G (p.Gln1593Glu) c.3115C>G (p.Gln1039Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108694880C>T | CA414132536 | COL4A5 | c.4780C>T (p.Gln1594Ter) c.4762C>T (p.Gln1588Ter) n.1274C>T n.1266C>T c.178C>T (p.Gln60Ter) c.325-1417C>T c.4771C>T (p.Gln1591Ter) c.4456C>T (p.Gln1486Ter) c.2353C>T (p.Gln785Ter) c.4795C>T (p.Gln1599Ter) c.4786C>T (p.Gln1596Ter) c.4777C>T (p.Gln1593Ter) c.3115C>T (p.Gln1039Ter) | COSMIC COSMIC |
| X | g.108694881A>C | CA414132538 | COL4A5 | c.4781A>C (p.Gln1594Pro) c.4763A>C (p.Gln1588Pro) n.1275A>C n.1267A>C c.179A>C (p.Gln60Pro) c.325-1416A>C c.4772A>C (p.Gln1591Pro) c.4457A>C (p.Gln1486Pro) c.2354A>C (p.Gln785Pro) c.4796A>C (p.Gln1599Pro) c.4787A>C (p.Gln1596Pro) c.4778A>C (p.Gln1593Pro) c.3116A>C (p.Gln1039Pro) | |
| X | g.108694881A>G | CA414132539 | COL4A5 | c.4781A>G (p.Gln1594Arg) c.4763A>G (p.Gln1588Arg) n.1275A>G n.1267A>G c.179A>G (p.Gln60Arg) c.325-1416A>G c.4772A>G (p.Gln1591Arg) c.4457A>G (p.Gln1486Arg) c.2354A>G (p.Gln785Arg) c.4796A>G (p.Gln1599Arg) c.4787A>G (p.Gln1596Arg) c.4778A>G (p.Gln1593Arg) c.3116A>G (p.Gln1039Arg) | |
| X | g.108694881A>T | CA414132540 | COL4A5 | c.4781A>T (p.Gln1594Leu) c.4763A>T (p.Gln1588Leu) n.1275A>T n.1267A>T c.179A>T (p.Gln60Leu) c.325-1416A>T c.4772A>T (p.Gln1591Leu) c.4457A>T (p.Gln1486Leu) c.2354A>T (p.Gln785Leu) c.4796A>T (p.Gln1599Leu) c.4787A>T (p.Gln1596Leu) c.4778A>T (p.Gln1593Leu) c.3116A>T (p.Gln1039Leu) | |
| X | g.108694882G>A | CA517925851 | COL4A5 | c.4782G>A (p.Gln1594=) c.4764G>A (p.Gln1588=) n.1276G>A n.1268G>A c.180G>A (p.Gln60=) c.325-1415G>A c.4773G>A (p.Gln1591=) c.4458G>A (p.Gln1486=) c.2355G>A (p.Gln785=) c.4797G>A (p.Gln1599=) c.4788G>A (p.Gln1596=) c.4779G>A (p.Gln1593=) c.3117G>A (p.Gln1039=) | |
| X | g.108694882G>C | CA414132541 | COL4A5 | c.4782G>C (p.Gln1594His) c.4764G>C (p.Gln1588His) n.1276G>C n.1268G>C c.180G>C (p.Gln60His) c.325-1415G>C c.4773G>C (p.Gln1591His) c.4458G>C (p.Gln1486His) c.2355G>C (p.Gln785His) c.4797G>C (p.Gln1599His) c.4788G>C (p.Gln1596His) c.4779G>C (p.Gln1593His) c.3117G>C (p.Gln1039His) | |
| X | g.108694882G>T | CA414132542 | COL4A5 | c.4782G>T (p.Gln1594His) c.4764G>T (p.Gln1588His) n.1276G>T n.1268G>T c.180G>T (p.Gln60His) c.325-1415G>T c.4773G>T (p.Gln1591His) c.4458G>T (p.Gln1486His) c.2355G>T (p.Gln785His) c.4797G>T (p.Gln1599His) c.4788G>T (p.Gln1596His) c.4779G>T (p.Gln1593His) c.3117G>T (p.Gln1039His) | |
| X | g.108694883G>A | CA414132543 | COL4A5 | c.4783G>A (p.Gly1595Arg) c.4765G>A (p.Gly1589Arg) n.1277G>A n.1269G>A c.181G>A (p.Gly61Arg) c.325-1414G>A c.4774G>A (p.Gly1592Arg) c.4459G>A (p.Gly1487Arg) c.2356G>A (p.Gly786Arg) c.4798G>A (p.Gly1600Arg) c.4789G>A (p.Gly1597Arg) c.4780G>A (p.Gly1594Arg) c.3118G>A (p.Gly1040Arg) | |
| X | g.108694883G>C | CA414132544 | COL4A5 | c.4783G>C (p.Gly1595Arg) c.4765G>C (p.Gly1589Arg) n.1277G>C n.1269G>C c.181G>C (p.Gly61Arg) c.325-1414G>C c.4774G>C (p.Gly1592Arg) c.4459G>C (p.Gly1487Arg) c.2356G>C (p.Gly786Arg) c.4798G>C (p.Gly1600Arg) c.4789G>C (p.Gly1597Arg) c.4780G>C (p.Gly1594Arg) c.3118G>C (p.Gly1040Arg) | |
| X | g.108694883G>T | CA414132545 | COL4A5 | c.4783G>T (p.Gly1595Ter) c.4765G>T (p.Gly1589Ter) n.1277G>T n.1269G>T c.181G>T (p.Gly61Ter) c.325-1414G>T c.4774G>T (p.Gly1592Ter) c.4459G>T (p.Gly1487Ter) c.2356G>T (p.Gly786Ter) c.4798G>T (p.Gly1600Ter) c.4789G>T (p.Gly1597Ter) c.4780G>T (p.Gly1594Ter) c.3118G>T (p.Gly1040Ter) | ClinVar |
| X | g.108694884G>A | CA414132546 | COL4A5 | c.4784G>A (p.Gly1595Glu) c.4766G>A (p.Gly1589Glu) n.1278G>A n.1270G>A c.182G>A (p.Gly61Glu) c.325-1413G>A c.4775G>A (p.Gly1592Glu) c.4460G>A (p.Gly1487Glu) c.2357G>A (p.Gly786Glu) c.4799G>A (p.Gly1600Glu) c.4790G>A (p.Gly1597Glu) c.4781G>A (p.Gly1594Glu) c.3119G>A (p.Gly1040Glu) | |
| X | g.108694884G>C | CA414132547 | COL4A5 | c.4784G>C (p.Gly1595Ala) c.4766G>C (p.Gly1589Ala) n.1278G>C n.1270G>C c.182G>C (p.Gly61Ala) c.325-1413G>C c.4775G>C (p.Gly1592Ala) c.4460G>C (p.Gly1487Ala) c.2357G>C (p.Gly786Ala) c.4799G>C (p.Gly1600Ala) c.4790G>C (p.Gly1597Ala) c.4781G>C (p.Gly1594Ala) c.3119G>C (p.Gly1040Ala) | |
| X | g.108694884G= | CA2450721599 | COL4A5 | c.4784G= (p.Gly1595=) c.4766G= (p.Gly1589=) n.1278G= n.1270G= c.182G= (p.Gly61=) c.325-1413G= c.4775G= (p.Gly1592=) c.4460G= (p.Gly1487=) c.2357G= (p.Gly786=) c.4799G= (p.Gly1600=) c.4790G= (p.Gly1597=) c.4781G= (p.Gly1594=) c.3119G= (p.Gly1040=) | |
| X | g.108694884G>T | CA259109 | COL4A5 | c.4784G>T (p.Gly1595Val) c.4766G>T (p.Gly1589Val) n.1278G>T n.1270G>T c.182G>T (p.Gly61Val) c.325-1413G>T c.4775G>T (p.Gly1592Val) c.4460G>T (p.Gly1487Val) c.2357G>T (p.Gly786Val) c.4799G>T (p.Gly1600Val) c.4790G>T (p.Gly1597Val) c.4781G>T (p.Gly1594Val) c.3119G>T (p.Gly1040Val) | dbSNP |
| X | g.108694885A>C | CA517925859 | COL4A5 | c.4785A>C (p.Gly1595=) c.4767A>C (p.Gly1589=) n.1279A>C n.1271A>C c.183A>C (p.Gly61=) c.325-1412A>C c.4776A>C (p.Gly1592=) c.4461A>C (p.Gly1487=) c.2358A>C (p.Gly786=) c.4800A>C (p.Gly1600=) c.4791A>C (p.Gly1597=) c.4782A>C (p.Gly1594=) c.3120A>C (p.Gly1040=) | |
| X | g.108694885A>G | CA517925860 | COL4A5 | c.4785A>G (p.Gly1595=) c.4767A>G (p.Gly1589=) n.1279A>G n.1271A>G c.183A>G (p.Gly61=) c.325-1412A>G c.4776A>G (p.Gly1592=) c.4461A>G (p.Gly1487=) c.2358A>G (p.Gly786=) c.4800A>G (p.Gly1600=) c.4791A>G (p.Gly1597=) c.4782A>G (p.Gly1594=) c.3120A>G (p.Gly1040=) | |
| X | g.108694885A>T | CA517925861 | COL4A5 | c.4785A>T (p.Gly1595=) c.4767A>T (p.Gly1589=) n.1279A>T n.1271A>T c.183A>T (p.Gly61=) c.325-1412A>T c.4776A>T (p.Gly1592=) c.4461A>T (p.Gly1487=) c.2358A>T (p.Gly786=) c.4800A>T (p.Gly1600=) c.4791A>T (p.Gly1597=) c.4782A>T (p.Gly1594=) c.3120A>T (p.Gly1040=) | |
| X | g.108694886T>A | CA414132548 | COL4A5 | c.4786T>A (p.Trp1596Arg) c.4768T>A (p.Trp1590Arg) n.1280T>A n.1272T>A c.184T>A (p.Trp62Arg) c.325-1411T>A c.4777T>A (p.Trp1593Arg) c.4462T>A (p.Trp1488Arg) c.2359T>A (p.Trp787Arg) c.4801T>A (p.Trp1601Arg) c.4792T>A (p.Trp1598Arg) c.4783T>A (p.Trp1595Arg) c.3121T>A (p.Trp1041Arg) | |
| X | g.108694886T>C | CA414132549 | COL4A5 | c.4786T>C (p.Trp1596Arg) c.4768T>C (p.Trp1590Arg) n.1280T>C n.1272T>C c.184T>C (p.Trp62Arg) c.325-1411T>C c.4777T>C (p.Trp1593Arg) c.4462T>C (p.Trp1488Arg) c.2359T>C (p.Trp787Arg) c.4801T>C (p.Trp1601Arg) c.4792T>C (p.Trp1598Arg) c.4783T>C (p.Trp1595Arg) c.3121T>C (p.Trp1041Arg) | |
| X | g.108694886T>G | CA259112 | COL4A5 | c.4786T>G (p.Trp1596Gly) c.4768T>G (p.Trp1590Gly) n.1280T>G n.1272T>G c.184T>G (p.Trp62Gly) c.325-1411T>G c.4777T>G (p.Trp1593Gly) c.4462T>G (p.Trp1488Gly) c.2359T>G (p.Trp787Gly) c.4801T>G (p.Trp1601Gly) c.4792T>G (p.Trp1598Gly) c.4783T>G (p.Trp1595Gly) c.3121T>G (p.Trp1041Gly) | dbSNP |
| X | g.108694886T= | CA2450721600 | COL4A5 | c.4786T= (p.Trp1596=) c.4768T= (p.Trp1590=) n.1280T= n.1272T= c.184T= (p.Trp62=) c.325-1411T= c.4777T= (p.Trp1593=) c.4462T= (p.Trp1488=) c.2359T= (p.Trp787=) c.4801T= (p.Trp1601=) c.4792T= (p.Trp1598=) c.4783T= (p.Trp1595=) c.3121T= (p.Trp1041=) | |
| X | g.108694886_108694887delinsTG | CA2450721601 | COL4A5 | c.4786_4787delinsTG (p.Trp1596=) c.4768_4769delinsTG (p.Trp1590=) n.1280_1281delinsTG n.1272_1273delinsTG c.184_185delinsTG (p.Trp62=) c.325-1411_325-1410delinsTG c.4777_4778delinsTG (p.Trp1593=) c.4462_4463delinsTG (p.Trp1488=) c.2359_2360delinsTG (p.Trp787=) c.4801_4802delinsTG (p.Trp1601=) c.4792_4793delinsTG (p.Trp1598=) c.4783_4784delinsTG (p.Trp1595=) c.3121_3122delinsTG (p.Trp1041=) | |
| X | g.108694887G>A | CA414132550 | COL4A5 | c.4787G>A (p.Trp1596Ter) c.4769G>A (p.Trp1590Ter) n.1281G>A n.1273G>A c.185G>A (p.Trp62Ter) c.325-1410G>A c.4778G>A (p.Trp1593Ter) c.4463G>A (p.Trp1488Ter) c.2360G>A (p.Trp787Ter) c.4802G>A (p.Trp1601Ter) c.4793G>A (p.Trp1598Ter) c.4784G>A (p.Trp1595Ter) c.3122G>A (p.Trp1041Ter) | ClinVar dbSNP |
| X | g.108694887G>C | CA414132551 | COL4A5 | c.4787G>C (p.Trp1596Ser) c.4769G>C (p.Trp1590Ser) n.1281G>C n.1273G>C c.185G>C (p.Trp62Ser) c.325-1410G>C c.4778G>C (p.Trp1593Ser) c.4463G>C (p.Trp1488Ser) c.2360G>C (p.Trp787Ser) c.4802G>C (p.Trp1601Ser) c.4793G>C (p.Trp1598Ser) c.4784G>C (p.Trp1595Ser) c.3122G>C (p.Trp1041Ser) | |
| X | g.108694887G>T | CA414132552 | COL4A5 | c.4787G>T (p.Trp1596Leu) c.4769G>T (p.Trp1590Leu) n.1281G>T n.1273G>T c.185G>T (p.Trp62Leu) c.325-1410G>T c.4778G>T (p.Trp1593Leu) c.4463G>T (p.Trp1488Leu) c.2360G>T (p.Trp787Leu) c.4802G>T (p.Trp1601Leu) c.4793G>T (p.Trp1598Leu) c.4784G>T (p.Trp1595Leu) c.3122G>T (p.Trp1041Leu) | |
| X | g.108694889del | CA658824369 | COL4A5 | c.4789del (p.Asp1597IlefsTer10) c.4771del (p.Asp1591IlefsTer10) n.1283del n.1275del c.187del (p.Asp63IlefsTer10) c.325-1408del c.4780del (p.Asp1594IlefsTer10) c.4465del (p.Asp1489IlefsTer10) c.2362del (p.Asp788IlefsTer10) c.4804del (p.Asp1602IlefsTer10) c.4795del (p.Asp1599IlefsTer10) c.4786del (p.Asp1596IlefsTer10) c.3124del (p.Asp1042IlefsTer10) | ClinVar dbSNP |
| X | g.108694888G>A | CA414132553 | COL4A5 | c.4788G>A (p.Trp1596Ter) c.4770G>A (p.Trp1590Ter) n.1282G>A n.1274G>A c.186G>A (p.Trp62Ter) c.325-1409G>A c.4779G>A (p.Trp1593Ter) c.4464G>A (p.Trp1488Ter) c.2361G>A (p.Trp787Ter) c.4803G>A (p.Trp1601Ter) c.4794G>A (p.Trp1598Ter) c.4785G>A (p.Trp1595Ter) c.3123G>A (p.Trp1041Ter) | ClinVar dbSNP |
| X | g.108694888G>C | CA414132554 | COL4A5 | c.4788G>C (p.Trp1596Cys) c.4770G>C (p.Trp1590Cys) n.1282G>C n.1274G>C c.186G>C (p.Trp62Cys) c.325-1409G>C c.4779G>C (p.Trp1593Cys) c.4464G>C (p.Trp1488Cys) c.2361G>C (p.Trp787Cys) c.4803G>C (p.Trp1601Cys) c.4794G>C (p.Trp1598Cys) c.4785G>C (p.Trp1595Cys) c.3123G>C (p.Trp1041Cys) | |
| X | g.108694888G>T | CA414132555 | COL4A5 | c.4788G>T (p.Trp1596Cys) c.4770G>T (p.Trp1590Cys) n.1282G>T n.1274G>T c.186G>T (p.Trp62Cys) c.325-1409G>T c.4779G>T (p.Trp1593Cys) c.4464G>T (p.Trp1488Cys) c.2361G>T (p.Trp787Cys) c.4803G>T (p.Trp1601Cys) c.4794G>T (p.Trp1598Cys) c.4785G>T (p.Trp1595Cys) c.3123G>T (p.Trp1041Cys) | |
| X | g.108694889G>A | CA414132556 | COL4A5 | c.4789G>A (p.Asp1597Asn) c.4771G>A (p.Asp1591Asn) n.1283G>A n.1275G>A c.187G>A (p.Asp63Asn) c.325-1408G>A c.4780G>A (p.Asp1594Asn) c.4465G>A (p.Asp1489Asn) c.2362G>A (p.Asp788Asn) c.4804G>A (p.Asp1602Asn) c.4795G>A (p.Asp1599Asn) c.4786G>A (p.Asp1596Asn) c.3124G>A (p.Asp1042Asn) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108694889G>C | CA414132557 | COL4A5 | c.4789G>C (p.Asp1597His) c.4771G>C (p.Asp1591His) n.1283G>C n.1275G>C c.187G>C (p.Asp63His) c.325-1408G>C c.4780G>C (p.Asp1594His) c.4465G>C (p.Asp1489His) c.2362G>C (p.Asp788His) c.4804G>C (p.Asp1602His) c.4795G>C (p.Asp1599His) c.4786G>C (p.Asp1596His) c.3124G>C (p.Asp1042His) |