Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.227008174_227008176del | CA2663402693 | COL4A4 | c.256_258del (p.Met86del) c.4654_4656del (p.Met1552del) c.4099_4101del (p.Met1367del) c.4465_4467del (p.Met1489del) c.4216+13875_4216+13877del (n.4216+13875_4216+13877del) c.4573_4575del (p.Met1525del) c.4546_4548del (p.Met1516del) c.4400_4402del (p.Asp1467del) c.4283_4285del (p.Asp1428del) c.2980_2982del (p.Met994del) n.4964_4966del n.4526+13875_4526+13877del c.4537_4539del (p.Met1513del) n.4980_4982del n.4726_4728del n.4542+13875_4542+13877del | gnomAD v4 |
2 | g.227008173T>A | CA351140759 | COL4A4 | c.256A>T (p.Met86Leu) c.4654A>T (p.Met1552Leu) c.4099A>T (p.Met1367Leu) c.4465A>T (p.Met1489Leu) c.4216+13875A>T (n.4216+13875A>T) c.4573A>T (p.Met1525Leu) c.4546A>T (p.Met1516Leu) c.4400A>T (p.Asp1467Val) c.4283A>T (p.Asp1428Val) c.2980A>T (p.Met994Leu) n.4964A>T n.4526+13875A>T c.4537A>T (p.Met1513Leu) n.4980A>T n.4726A>T n.4542+13875A>T | |
2 | g.227008173T>C | CA351140760 | COL4A4 | c.256A>G (p.Met86Val) c.4654A>G (p.Met1552Val) c.4099A>G (p.Met1367Val) c.4465A>G (p.Met1489Val) c.4216+13875A>G (n.4216+13875A>G) c.4573A>G (p.Met1525Val) c.4546A>G (p.Met1516Val) c.4400A>G (p.Asp1467Gly) c.4283A>G (p.Asp1428Gly) c.2980A>G (p.Met994Val) n.4964A>G n.4526+13875A>G c.4537A>G (p.Met1513Val) n.4980A>G n.4726A>G n.4542+13875A>G | |
2 | g.227008173T>G | CA351140758 | COL4A4 | c.256A>C (p.Met86Leu) c.4654A>C (p.Met1552Leu) c.4099A>C (p.Met1367Leu) c.4465A>C (p.Met1489Leu) c.4216+13875A>C (n.4216+13875A>C) c.4573A>C (p.Met1525Leu) c.4546A>C (p.Met1516Leu) c.4400A>C (p.Asp1467Ala) c.4283A>C (p.Asp1428Ala) c.2980A>C (p.Met994Leu) n.4964A>C n.4526+13875A>C c.4537A>C (p.Met1513Leu) n.4980A>C n.4726A>C n.4542+13875A>C | |
2 | g.227008173T= | CA1332723943 | COL4A4 | c.256A= (p.Met86=) c.4654A= (p.Met1552=) c.4099A= (p.Met1367=) c.4465A= (p.Met1489=) c.4216+13875A= (n.4216+13875A=) c.4573A= (p.Met1525=) c.4546A= (p.Met1516=) c.4400A= (p.Asp1467=) c.4283A= (p.Asp1428=) c.2980A= (p.Met994=) n.4964A= n.4526+13875A= c.4537A= (p.Met1513=) n.4980A= n.4726A= n.4542+13875A= | |
2 | g.227008173_227008174insGG | CA2144105 | COL4A4 | c.255_256insCC (p.Met86ProfsTer?) c.4653_4654insCC (p.Met1552ProfsTer?) c.4098_4099insCC (p.Met1367ProfsTer?) c.4464_4465insCC (p.Met1489ProfsTer?) c.4216+13874_4216+13875insCC (n.4216+13874_4216+13875insCC) c.4572_4573insCC (p.Met1525ProfsTer?) c.4545_4546insCC (p.Met1516ProfsTer?) c.4399_4400insCC (p.Asp1467AlafsTer?) c.4282_4283insCC (p.Asp1428AlafsTer?) c.2979_2980insCC (p.Met994ProfsTer?) n.4963_4964insCC n.4526+13874_4526+13875insCC c.4536_4537insCC (p.Met1513ProfsTer?) n.4979_4980insCC n.4725_4726insCC n.4542+13874_4542+13875insCC | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227008174C>A | CA351140761 | COL4A4 | c.255G>T (p.Met85Ile) c.4653G>T (p.Met1551Ile) c.4098G>T (p.Met1366Ile) c.4464G>T (p.Met1488Ile) c.4216+13874G>T (n.4216+13874G>T) c.4572G>T (p.Met1524Ile) c.4545G>T (p.Met1515Ile) c.4399G>T (p.Asp1467Tyr) c.4282G>T (p.Asp1428Tyr) c.2979G>T (p.Met993Ile) n.4963G>T n.4526+13874G>T c.4536G>T (p.Met1512Ile) n.4979G>T n.4725G>T n.4542+13874G>T | |
2 | g.227008174C>G | CA351140762 | COL4A4 | c.255G>C (p.Met85Ile) c.4653G>C (p.Met1551Ile) c.4098G>C (p.Met1366Ile) c.4464G>C (p.Met1488Ile) c.4216+13874G>C (n.4216+13874G>C) c.4572G>C (p.Met1524Ile) c.4545G>C (p.Met1515Ile) c.4399G>C (p.Asp1467His) c.4282G>C (p.Asp1428His) c.2979G>C (p.Met993Ile) n.4963G>C n.4526+13874G>C c.4536G>C (p.Met1512Ile) n.4979G>C n.4725G>C n.4542+13874G>C | |
2 | g.227008174C>T | CA351140763 | COL4A4 | c.255G>A (p.Met85Ile) c.4653G>A (p.Met1551Ile) c.4098G>A (p.Met1366Ile) c.4464G>A (p.Met1488Ile) c.4216+13874G>A (n.4216+13874G>A) c.4572G>A (p.Met1524Ile) c.4545G>A (p.Met1515Ile) c.4399G>A (p.Asp1467Asn) c.4282G>A (p.Asp1428Asn) c.2979G>A (p.Met993Ile) n.4963G>A n.4526+13874G>A c.4536G>A (p.Met1512Ile) n.4979G>A n.4725G>A n.4542+13874G>A | |
2 | g.227008175A= | CA1332723944 | COL4A4 | c.254T= (p.Met85=) c.4652T= (p.Met1551=) c.4097T= (p.Met1366=) c.4463T= (p.Met1488=) c.4216+13873T= (n.4216+13873T=) c.4571T= (p.Met1524=) c.4544T= (p.Met1515=) c.4398T= (p.His1466=) c.4281T= (p.His1427=) c.2978T= (p.Met993=) n.4962T= n.4526+13873T= c.4535T= (p.Met1512=) n.4978T= n.4724T= n.4542+13873T= | |
2 | g.227008175A>C | CA351140764 | COL4A4 | c.254T>G (p.Met85Arg) c.4652T>G (p.Met1551Arg) c.4097T>G (p.Met1366Arg) c.4463T>G (p.Met1488Arg) c.4216+13873T>G (n.4216+13873T>G) c.4571T>G (p.Met1524Arg) c.4544T>G (p.Met1515Arg) c.4398T>G (p.His1466Gln) c.4281T>G (p.His1427Gln) c.2978T>G (p.Met993Arg) n.4962T>G n.4526+13873T>G c.4535T>G (p.Met1512Arg) n.4978T>G n.4724T>G n.4542+13873T>G | |
2 | g.227008175A>G | CA351140765 | COL4A4 | c.254T>C (p.Met85Thr) c.4652T>C (p.Met1551Thr) c.4097T>C (p.Met1366Thr) c.4463T>C (p.Met1488Thr) c.4216+13873T>C (n.4216+13873T>C) c.4571T>C (p.Met1524Thr) c.4544T>C (p.Met1515Thr) c.4398T>C (p.His1466=) c.4281T>C (p.His1427=) c.2978T>C (p.Met993Thr) n.4962T>C n.4526+13873T>C c.4535T>C (p.Met1512Thr) n.4978T>C n.4724T>C n.4542+13873T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008175A>T | CA351140766 | COL4A4 | c.254T>A (p.Met85Lys) c.4652T>A (p.Met1551Lys) c.4097T>A (p.Met1366Lys) c.4463T>A (p.Met1488Lys) c.4216+13873T>A (n.4216+13873T>A) c.4571T>A (p.Met1524Lys) c.4544T>A (p.Met1515Lys) c.4398T>A (p.His1466Gln) c.4281T>A (p.His1427Gln) c.2978T>A (p.Met993Lys) n.4962T>A n.4526+13873T>A c.4535T>A (p.Met1512Lys) n.4978T>A n.4724T>A n.4542+13873T>A | dbSNP |
2 | g.227008176T>A | CA351140767 | COL4A4 | c.253A>T (p.Met85Leu) c.4651A>T (p.Met1551Leu) c.4096A>T (p.Met1366Leu) c.4462A>T (p.Met1488Leu) c.4216+13872A>T (n.4216+13872A>T) c.4570A>T (p.Met1524Leu) c.4543A>T (p.Met1515Leu) c.4397A>T (p.His1466Leu) c.4280A>T (p.His1427Leu) c.2977A>T (p.Met993Leu) n.4961A>T n.4526+13872A>T c.4534A>T (p.Met1512Leu) n.4977A>T n.4723A>T n.4542+13872A>T | |
2 | g.227008176T>C | CA351140768 | COL4A4 | c.253A>G (p.Met85Val) c.4651A>G (p.Met1551Val) c.4096A>G (p.Met1366Val) c.4462A>G (p.Met1488Val) c.4216+13872A>G (n.4216+13872A>G) c.4570A>G (p.Met1524Val) c.4543A>G (p.Met1515Val) c.4397A>G (p.His1466Arg) c.4280A>G (p.His1427Arg) c.2977A>G (p.Met993Val) n.4961A>G n.4526+13872A>G c.4534A>G (p.Met1512Val) n.4977A>G n.4723A>G n.4542+13872A>G | dbSNP gnomAD v4 |
2 | g.227008176T>G | CA351140769 | COL4A4 | c.253A>C (p.Met85Leu) c.4651A>C (p.Met1551Leu) c.4096A>C (p.Met1366Leu) c.4462A>C (p.Met1488Leu) c.4216+13872A>C (n.4216+13872A>C) c.4570A>C (p.Met1524Leu) c.4543A>C (p.Met1515Leu) c.4397A>C (p.His1466Pro) c.4280A>C (p.His1427Pro) c.2977A>C (p.Met993Leu) n.4961A>C n.4526+13872A>C c.4534A>C (p.Met1512Leu) n.4977A>C n.4723A>C n.4542+13872A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008176T= | CA1332723945 | COL4A4 | c.253A= (p.Met85=) c.4651A= (p.Met1551=) c.4096A= (p.Met1366=) c.4462A= (p.Met1488=) c.4216+13872A= (n.4216+13872A=) c.4570A= (p.Met1524=) c.4543A= (p.Met1515=) c.4397A= (p.His1466=) c.4280A= (p.His1427=) c.2977A= (p.Met993=) n.4961A= n.4526+13872A= c.4534A= (p.Met1512=) n.4977A= n.4723A= n.4542+13872A= | |
2 | g.227008177G>A | CA431671924 | COL4A4 | c.252C>T (p.Pro84=) c.4650C>T (p.Pro1550=) c.4095C>T (p.Pro1365=) c.4461C>T (p.Pro1487=) c.4216+13871C>T (n.4216+13871C>T) c.4569C>T (p.Pro1523=) c.4542C>T (p.Pro1514=) c.4396C>T (p.His1466Tyr) c.4279C>T (p.His1427Tyr) c.2976C>T (p.Pro992=) n.4960C>T n.4526+13871C>T c.4533C>T (p.Pro1511=) n.4976C>T n.4722C>T n.4542+13871C>T | |
2 | g.227008177G>C | CA431671925 | COL4A4 | c.252C>G (p.Pro84=) c.4650C>G (p.Pro1550=) c.4095C>G (p.Pro1365=) c.4461C>G (p.Pro1487=) c.4216+13871C>G (n.4216+13871C>G) c.4569C>G (p.Pro1523=) c.4542C>G (p.Pro1514=) c.4396C>G (p.His1466Asp) c.4279C>G (p.His1427Asp) c.2976C>G (p.Pro992=) n.4960C>G n.4526+13871C>G c.4533C>G (p.Pro1511=) n.4976C>G n.4722C>G n.4542+13871C>G | |
2 | g.227008177G= | CA1332723946 | COL4A4 | c.252C= (p.Pro84=) c.4650C= (p.Pro1550=) c.4095C= (p.Pro1365=) c.4461C= (p.Pro1487=) c.4216+13871C= (n.4216+13871C=) c.4569C= (p.Pro1523=) c.4542C= (p.Pro1514=) c.4396C= (p.His1466=) c.4279C= (p.His1427=) c.2976C= (p.Pro992=) n.4960C= n.4526+13871C= c.4533C= (p.Pro1511=) n.4976C= n.4722C= n.4542+13871C= | |
2 | g.227008177G>T | CA2144106 | COL4A4 | c.252C>A (p.Pro84=) c.4650C>A (p.Pro1550=) c.4095C>A (p.Pro1365=) c.4461C>A (p.Pro1487=) c.4216+13871C>A (n.4216+13871C>A) c.4569C>A (p.Pro1523=) c.4542C>A (p.Pro1514=) c.4396C>A (p.His1466Asn) c.4279C>A (p.His1427Asn) c.2976C>A (p.Pro992=) n.4960C>A n.4526+13871C>A c.4533C>A (p.Pro1511=) n.4976C>A n.4722C>A n.4542+13871C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008180del | CA2740098046 | COL4A4 | c.252del (p.Met85Ter) c.4650del (p.Met1551Ter) c.4095del (p.Met1366Ter) c.4461del (p.Met1488Ter) c.4216+13871del (n.4216+13871del) c.4569del (p.Met1524Ter) c.4542del (p.Met1515Ter) c.4396del (p.His1466MetfsTer?) c.4279del (p.His1427MetfsTer?) c.2976del (p.Met993Ter) n.4960del n.4526+13871del c.4533del (p.Met1512Ter) n.4976del n.4722del n.4542+13871del | ClinVar |
2 | g.227008178G>A | CA351140770 | COL4A4 | c.251C>T (p.Pro84Leu) c.4649C>T (p.Pro1550Leu) c.4094C>T (p.Pro1365Leu) c.4460C>T (p.Pro1487Leu) c.4216+13870C>T (n.4216+13870C>T) c.4568C>T (p.Pro1523Leu) c.4541C>T (p.Pro1514Leu) c.4395C>T (p.Pro1465=) c.4278C>T (p.Pro1426=) c.2975C>T (p.Pro992Leu) n.4959C>T n.4526+13870C>T c.4532C>T (p.Pro1511Leu) n.4975C>T n.4721C>T n.4542+13870C>T | |
2 | g.227008178G>C | CA351140771 | COL4A4 | c.251C>G (p.Pro84Arg) c.4649C>G (p.Pro1550Arg) c.4094C>G (p.Pro1365Arg) c.4460C>G (p.Pro1487Arg) c.4216+13870C>G (n.4216+13870C>G) c.4568C>G (p.Pro1523Arg) c.4541C>G (p.Pro1514Arg) c.4395C>G (p.Pro1465=) c.4278C>G (p.Pro1426=) c.2975C>G (p.Pro992Arg) n.4959C>G n.4526+13870C>G c.4532C>G (p.Pro1511Arg) n.4975C>G n.4721C>G n.4542+13870C>G | |
2 | g.227008178G>T | CA351140772 | COL4A4 | c.251C>A (p.Pro84His) c.4649C>A (p.Pro1550His) c.4094C>A (p.Pro1365His) c.4460C>A (p.Pro1487His) c.4216+13870C>A (n.4216+13870C>A) c.4568C>A (p.Pro1523His) c.4541C>A (p.Pro1514His) c.4395C>A (p.Pro1465=) c.4278C>A (p.Pro1426=) c.2975C>A (p.Pro992His) n.4959C>A n.4526+13870C>A c.4532C>A (p.Pro1511His) n.4975C>A n.4721C>A n.4542+13870C>A | |
2 | g.227008179G>A | CA351140775 | COL4A4 | c.250C>T (p.Pro84Ser) c.4648C>T (p.Pro1550Ser) c.4093C>T (p.Pro1365Ser) c.4459C>T (p.Pro1487Ser) c.4216+13869C>T (n.4216+13869C>T) c.4567C>T (p.Pro1523Ser) c.4540C>T (p.Pro1514Ser) c.4394C>T (p.Pro1465Leu) c.4277C>T (p.Pro1426Leu) c.2974C>T (p.Pro992Ser) n.4958C>T n.4526+13869C>T c.4531C>T (p.Pro1511Ser) n.4974C>T n.4720C>T n.4542+13869C>T | |
2 | g.227008179G>C | CA351140774 | COL4A4 | c.250C>G (p.Pro84Ala) c.4648C>G (p.Pro1550Ala) c.4093C>G (p.Pro1365Ala) c.4459C>G (p.Pro1487Ala) c.4216+13869C>G (n.4216+13869C>G) c.4567C>G (p.Pro1523Ala) c.4540C>G (p.Pro1514Ala) c.4394C>G (p.Pro1465Arg) c.4277C>G (p.Pro1426Arg) c.2974C>G (p.Pro992Ala) n.4958C>G n.4526+13869C>G c.4531C>G (p.Pro1511Ala) n.4974C>G n.4720C>G n.4542+13869C>G | |
2 | g.227008179G>T | CA351140773 | COL4A4 | c.250C>A (p.Pro84Thr) c.4648C>A (p.Pro1550Thr) c.4093C>A (p.Pro1365Thr) c.4459C>A (p.Pro1487Thr) c.4216+13869C>A (n.4216+13869C>A) c.4567C>A (p.Pro1523Thr) c.4540C>A (p.Pro1514Thr) c.4394C>A (p.Pro1465His) c.4277C>A (p.Pro1426His) c.2974C>A (p.Pro992Thr) n.4958C>A n.4526+13869C>A c.4531C>A (p.Pro1511Thr) n.4974C>A n.4720C>A n.4542+13869C>A | |
2 | g.227008180G>A | CA431671928 | COL4A4 | c.249C>T (p.Leu83=) c.4647C>T (p.Leu1549=) c.4092C>T (p.Leu1364=) c.4458C>T (p.Leu1486=) c.4216+13868C>T (n.4216+13868C>T) c.4566C>T (p.Leu1522=) c.4539C>T (p.Leu1513=) c.4393C>T (p.Pro1465Ser) c.4276C>T (p.Pro1426Ser) c.2973C>T (p.Leu991=) n.4957C>T n.4526+13868C>T c.4530C>T (p.Leu1510=) n.4973C>T n.4719C>T n.4542+13868C>T | |
2 | g.227008180G>C | CA431671926 | COL4A4 | c.249C>G (p.Leu83=) c.4647C>G (p.Leu1549=) c.4092C>G (p.Leu1364=) c.4458C>G (p.Leu1486=) c.4216+13868C>G (n.4216+13868C>G) c.4566C>G (p.Leu1522=) c.4539C>G (p.Leu1513=) c.4393C>G (p.Pro1465Ala) c.4276C>G (p.Pro1426Ala) c.2973C>G (p.Leu991=) n.4957C>G n.4526+13868C>G c.4530C>G (p.Leu1510=) n.4973C>G n.4719C>G n.4542+13868C>G | |
2 | g.227008180G>T | CA431671927 | COL4A4 | c.249C>A (p.Leu83=) c.4647C>A (p.Leu1549=) c.4092C>A (p.Leu1364=) c.4458C>A (p.Leu1486=) c.4216+13868C>A (n.4216+13868C>A) c.4566C>A (p.Leu1522=) c.4539C>A (p.Leu1513=) c.4393C>A (p.Pro1465Thr) c.4276C>A (p.Pro1426Thr) c.2973C>A (p.Leu991=) n.4957C>A n.4526+13868C>A c.4530C>A (p.Leu1510=) n.4973C>A n.4719C>A n.4542+13868C>A | |
2 | g.227008181del | CA2586965584 | COL4A4 | c.248del (p.Leu83ProfsTer3) c.4646del (p.Leu1549ProfsTer3) c.4091del (p.Leu1364ProfsTer3) c.4457del (p.Leu1486ProfsTer3) c.4216+13867del (n.4216+13867del) c.4565del (p.Leu1522ProfsTer3) c.4538del (p.Leu1513ProfsTer3) c.4392del (p.His1466MetfsTer?) c.4275del (p.His1427MetfsTer?) c.2972del (p.Leu991ProfsTer3) n.4956del n.4526+13867del c.4529del (p.Leu1510ProfsTer3) n.4972del n.4718del n.4542+13867del | gnomAD v4 |
2 | g.227008181A= | CA1332723947 | COL4A4 | c.248T= (p.Leu83=) c.4646T= (p.Leu1549=) c.4091T= (p.Leu1364=) c.4457T= (p.Leu1486=) c.4216+13867T= (n.4216+13867T=) c.4565T= (p.Leu1522=) c.4538T= (p.Leu1513=) c.4392T= (p.Pro1464=) c.4275T= (p.Pro1425=) c.2972T= (p.Leu991=) n.4956T= n.4526+13867T= c.4529T= (p.Leu1510=) n.4972T= n.4718T= n.4542+13867T= | |
2 | g.227008181A>C | CA351140776 | COL4A4 | c.248T>G (p.Leu83Arg) c.4646T>G (p.Leu1549Arg) c.4091T>G (p.Leu1364Arg) c.4457T>G (p.Leu1486Arg) c.4216+13867T>G (n.4216+13867T>G) c.4565T>G (p.Leu1522Arg) c.4538T>G (p.Leu1513Arg) c.4392T>G (p.Pro1464=) c.4275T>G (p.Pro1425=) c.2972T>G (p.Leu991Arg) n.4956T>G n.4526+13867T>G c.4529T>G (p.Leu1510Arg) n.4972T>G n.4718T>G n.4542+13867T>G | |
2 | g.227008181A>G | CA351140777 | COL4A4 | c.248T>C (p.Leu83Pro) c.4646T>C (p.Leu1549Pro) c.4091T>C (p.Leu1364Pro) c.4457T>C (p.Leu1486Pro) c.4216+13867T>C (n.4216+13867T>C) c.4565T>C (p.Leu1522Pro) c.4538T>C (p.Leu1513Pro) c.4392T>C (p.Pro1464=) c.4275T>C (p.Pro1425=) c.2972T>C (p.Leu991Pro) n.4956T>C n.4526+13867T>C c.4529T>C (p.Leu1510Pro) n.4972T>C n.4718T>C n.4542+13867T>C | dbSNP gnomAD v2 |
2 | g.227008181A>T | CA351140778 | COL4A4 | c.248T>A (p.Leu83His) c.4646T>A (p.Leu1549His) c.4091T>A (p.Leu1364His) c.4457T>A (p.Leu1486His) c.4216+13867T>A (n.4216+13867T>A) c.4565T>A (p.Leu1522His) c.4538T>A (p.Leu1513His) c.4392T>A (p.Pro1464=) c.4275T>A (p.Pro1425=) c.2972T>A (p.Leu991His) n.4956T>A n.4526+13867T>A c.4529T>A (p.Leu1510His) n.4972T>A n.4718T>A n.4542+13867T>A | |
2 | g.227008181dup | CA2573135353 | COL4A4 | c.248dup (p.Met85HisfsTer6) c.4646dup (p.Met1551HisfsTer6) c.4091dup (p.Met1366HisfsTer6) c.4457dup (p.Met1488HisfsTer6) c.4216+13867dup (n.4216+13867dup) c.4565dup (p.Met1524HisfsTer6) c.4538dup (p.Met1515HisfsTer6) c.4392dup (p.Pro1465SerfsTer3) c.4275dup (p.Pro1426SerfsTer3) c.2972dup (p.Met993HisfsTer6) n.4956dup n.4526+13867dup c.4529dup (p.Met1512HisfsTer6) n.4972dup n.4718dup n.4542+13867dup | ClinVar dbSNP |
2 | g.227008182G>A | CA2144107 | COL4A4 | c.247C>T (p.Leu83Phe) c.4645C>T (p.Leu1549Phe) c.4090C>T (p.Leu1364Phe) c.4456C>T (p.Leu1486Phe) c.4216+13866C>T (n.4216+13866C>T) c.4564C>T (p.Leu1522Phe) c.4537C>T (p.Leu1513Phe) c.4391C>T (p.Pro1464Leu) c.4274C>T (p.Pro1425Leu) c.2971C>T (p.Leu991Phe) n.4955C>T n.4526+13866C>T c.4528C>T (p.Leu1510Phe) n.4971C>T n.4717C>T n.4542+13866C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227008182G>C | CA351140779 | COL4A4 | c.247C>G (p.Leu83Val) c.4645C>G (p.Leu1549Val) c.4090C>G (p.Leu1364Val) c.4456C>G (p.Leu1486Val) c.4216+13866C>G (n.4216+13866C>G) c.4564C>G (p.Leu1522Val) c.4537C>G (p.Leu1513Val) c.4391C>G (p.Pro1464Arg) c.4274C>G (p.Pro1425Arg) c.2971C>G (p.Leu991Val) n.4955C>G n.4526+13866C>G c.4528C>G (p.Leu1510Val) n.4971C>G n.4717C>G n.4542+13866C>G | gnomAD v4 |
2 | g.227008182G= | CA1332723948 | COL4A4 | c.247C= (p.Leu83=) c.4645C= (p.Leu1549=) c.4090C= (p.Leu1364=) c.4456C= (p.Leu1486=) c.4216+13866C= (n.4216+13866C=) c.4564C= (p.Leu1522=) c.4537C= (p.Leu1513=) c.4391C= (p.Pro1464=) c.4274C= (p.Pro1425=) c.2971C= (p.Leu991=) n.4955C= n.4526+13866C= c.4528C= (p.Leu1510=) n.4971C= n.4717C= n.4542+13866C= | |
2 | g.227008182G>T | CA351140780 | COL4A4 | c.247C>A (p.Leu83Ile) c.4645C>A (p.Leu1549Ile) c.4090C>A (p.Leu1364Ile) c.4456C>A (p.Leu1486Ile) c.4216+13866C>A (n.4216+13866C>A) c.4564C>A (p.Leu1522Ile) c.4537C>A (p.Leu1513Ile) c.4391C>A (p.Pro1464His) c.4274C>A (p.Pro1425His) c.2971C>A (p.Leu991Ile) n.4955C>A n.4526+13866C>A c.4528C>A (p.Leu1510Ile) n.4971C>A n.4717C>A n.4542+13866C>A | |
2 | g.227008185del | CA2580065936 | COL4A4 | c.247del (p.Leu83SerfsTer3) c.4645del (p.Leu1549SerfsTer3) c.4090del (p.Leu1364SerfsTer3) c.4456del (p.Leu1486SerfsTer3) c.4216+13866del (n.4216+13866del) c.4564del (p.Leu1522SerfsTer3) c.4537del (p.Leu1513SerfsTer3) c.4391del (p.Pro1464LeufsTer?) c.4274del (p.Pro1425LeufsTer?) c.2971del (p.Leu991SerfsTer3) n.4955del n.4526+13866del c.4528del (p.Leu1510SerfsTer3) n.4971del n.4717del n.4542+13866del | ClinVar |
2 | g.227008183G>A | CA2144108 | COL4A4 | c.246C>T (p.Pro82=) c.4644C>T (p.Pro1548=) c.4089C>T (p.Pro1363=) c.4455C>T (p.Pro1485=) c.4216+13865C>T (n.4216+13865C>T) c.4563C>T (p.Pro1521=) c.4536C>T (p.Pro1512=) c.4390C>T (p.Pro1464Ser) c.4273C>T (p.Pro1425Ser) c.2970C>T (p.Pro990=) n.4954C>T n.4526+13865C>T c.4527C>T (p.Pro1509=) n.4970C>T n.4716C>T n.4542+13865C>T | dbSNP ExAC gnomAD v2 COSMIC |
2 | g.227008183G>C | CA431671932 | COL4A4 | c.246C>G (p.Pro82=) c.4644C>G (p.Pro1548=) c.4089C>G (p.Pro1363=) c.4455C>G (p.Pro1485=) c.4216+13865C>G (n.4216+13865C>G) c.4563C>G (p.Pro1521=) c.4536C>G (p.Pro1512=) c.4390C>G (p.Pro1464Ala) c.4273C>G (p.Pro1425Ala) c.2970C>G (p.Pro990=) n.4954C>G n.4526+13865C>G c.4527C>G (p.Pro1509=) n.4970C>G n.4716C>G n.4542+13865C>G | |
2 | g.227008183G= | CA1332723949 | COL4A4 | c.246C= (p.Pro82=) c.4644C= (p.Pro1548=) c.4089C= (p.Pro1363=) c.4455C= (p.Pro1485=) c.4216+13865C= (n.4216+13865C=) c.4563C= (p.Pro1521=) c.4536C= (p.Pro1512=) c.4390C= (p.Pro1464=) c.4273C= (p.Pro1425=) c.2970C= (p.Pro990=) n.4954C= n.4526+13865C= c.4527C= (p.Pro1509=) n.4970C= n.4716C= n.4542+13865C= | |
2 | g.227008183G>T | CA431671933 | COL4A4 | c.246C>A (p.Pro82=) c.4644C>A (p.Pro1548=) c.4089C>A (p.Pro1363=) c.4455C>A (p.Pro1485=) c.4216+13865C>A (n.4216+13865C>A) c.4563C>A (p.Pro1521=) c.4536C>A (p.Pro1512=) c.4390C>A (p.Pro1464Thr) c.4273C>A (p.Pro1425Thr) c.2970C>A (p.Pro990=) n.4954C>A n.4526+13865C>A c.4527C>A (p.Pro1509=) n.4970C>A n.4716C>A n.4542+13865C>A | |
2 | g.227008184G>A | CA2144109 | COL4A4 | c.245C>T (p.Pro82Leu) c.4643C>T (p.Pro1548Leu) c.4088C>T (p.Pro1363Leu) c.4454C>T (p.Pro1485Leu) c.4216+13864C>T (n.4216+13864C>T) c.4562C>T (p.Pro1521Leu) c.4535C>T (p.Pro1512Leu) c.4389C>T (p.Ala1463=) c.4272C>T (p.Ala1424=) c.2969C>T (p.Pro990Leu) n.4953C>T n.4526+13864C>T c.4526C>T (p.Pro1509Leu) n.4969C>T n.4715C>T n.4542+13864C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227008184G>C | CA351140781 | COL4A4 | c.245C>G (p.Pro82Arg) c.4643C>G (p.Pro1548Arg) c.4088C>G (p.Pro1363Arg) c.4454C>G (p.Pro1485Arg) c.4216+13864C>G (n.4216+13864C>G) c.4562C>G (p.Pro1521Arg) c.4535C>G (p.Pro1512Arg) c.4389C>G (p.Ala1463=) c.4272C>G (p.Ala1424=) c.2969C>G (p.Pro990Arg) n.4953C>G n.4526+13864C>G c.4526C>G (p.Pro1509Arg) n.4969C>G n.4715C>G n.4542+13864C>G | gnomAD v4 |
2 | g.227008184G= | CA1332723950 | COL4A4 | c.245C= (p.Pro82=) c.4643C= (p.Pro1548=) c.4088C= (p.Pro1363=) c.4454C= (p.Pro1485=) c.4216+13864C= (n.4216+13864C=) c.4562C= (p.Pro1521=) c.4535C= (p.Pro1512=) c.4389C= (p.Ala1463=) c.4272C= (p.Ala1424=) c.2969C= (p.Pro990=) n.4953C= n.4526+13864C= c.4526C= (p.Pro1509=) n.4969C= n.4715C= n.4542+13864C= | |
2 | g.227008184G>T | CA351140782 | COL4A4 | c.245C>A (p.Pro82His) c.4643C>A (p.Pro1548His) c.4088C>A (p.Pro1363His) c.4454C>A (p.Pro1485His) c.4216+13864C>A (n.4216+13864C>A) c.4562C>A (p.Pro1521His) c.4535C>A (p.Pro1512His) c.4389C>A (p.Ala1463=) c.4272C>A (p.Ala1424=) c.2969C>A (p.Pro990His) n.4953C>A n.4526+13864C>A c.4526C>A (p.Pro1509His) n.4969C>A n.4715C>A n.4542+13864C>A | |
2 | g.227008185G>A | CA351140783 | COL4A4 | c.244C>T (p.Pro82Ser) c.4642C>T (p.Pro1548Ser) c.4087C>T (p.Pro1363Ser) c.4453C>T (p.Pro1485Ser) c.4216+13863C>T (n.4216+13863C>T) c.4561C>T (p.Pro1521Ser) c.4534C>T (p.Pro1512Ser) c.4388C>T (p.Ala1463Val) c.4271C>T (p.Ala1424Val) c.2968C>T (p.Pro990Ser) n.4952C>T n.4526+13863C>T c.4525C>T (p.Pro1509Ser) n.4968C>T n.4714C>T n.4542+13863C>T | ClinVar |
2 | g.227008185G>C | CA351140784 | COL4A4 | c.244C>G (p.Pro82Ala) c.4642C>G (p.Pro1548Ala) c.4087C>G (p.Pro1363Ala) c.4453C>G (p.Pro1485Ala) c.4216+13863C>G (n.4216+13863C>G) c.4561C>G (p.Pro1521Ala) c.4534C>G (p.Pro1512Ala) c.4388C>G (p.Ala1463Gly) c.4271C>G (p.Ala1424Gly) c.2968C>G (p.Pro990Ala) n.4952C>G n.4526+13863C>G c.4525C>G (p.Pro1509Ala) n.4968C>G n.4714C>G n.4542+13863C>G | |
2 | g.227008185G>T | CA351140785 | COL4A4 | c.244C>A (p.Pro82Thr) c.4642C>A (p.Pro1548Thr) c.4087C>A (p.Pro1363Thr) c.4453C>A (p.Pro1485Thr) c.4216+13863C>A (n.4216+13863C>A) c.4561C>A (p.Pro1521Thr) c.4534C>A (p.Pro1512Thr) c.4388C>A (p.Ala1463Asp) c.4271C>A (p.Ala1424Asp) c.2968C>A (p.Pro990Thr) n.4952C>A n.4526+13863C>A c.4525C>A (p.Pro1509Thr) n.4968C>A n.4714C>A n.4542+13863C>A | |
2 | g.227008186C>A | CA431671936 | COL4A4 | c.243G>T (p.Ala81=) c.4641G>T (p.Ala1547=) c.4086G>T (p.Ala1362=) c.4452G>T (p.Ala1484=) c.4216+13862G>T (n.4216+13862G>T) c.4560G>T (p.Ala1520=) c.4533G>T (p.Ala1511=) c.4387G>T (p.Ala1463Ser) c.4270G>T (p.Ala1424Ser) c.2967G>T (p.Ala989=) n.4951G>T n.4526+13862G>T c.4524G>T (p.Ala1508=) n.4967G>T n.4713G>T n.4542+13862G>T | |
2 | g.227008186C= | CA1332723951 | COL4A4 | c.243G= (p.Ala81=) c.4641G= (p.Ala1547=) c.4086G= (p.Ala1362=) c.4452G= (p.Ala1484=) c.4216+13862G= (n.4216+13862G=) c.4560G= (p.Ala1520=) c.4533G= (p.Ala1511=) c.4387G= (p.Ala1463=) c.4270G= (p.Ala1424=) c.2967G= (p.Ala989=) n.4951G= n.4526+13862G= c.4524G= (p.Ala1508=) n.4967G= n.4713G= n.4542+13862G= | |
2 | g.227008186C>G | CA431671937 | COL4A4 | c.243G>C (p.Ala81=) c.4641G>C (p.Ala1547=) c.4086G>C (p.Ala1362=) c.4452G>C (p.Ala1484=) c.4216+13862G>C (n.4216+13862G>C) c.4560G>C (p.Ala1520=) c.4533G>C (p.Ala1511=) c.4387G>C (p.Ala1463Pro) c.4270G>C (p.Ala1424Pro) c.2967G>C (p.Ala989=) n.4951G>C n.4526+13862G>C c.4524G>C (p.Ala1508=) n.4967G>C n.4713G>C n.4542+13862G>C | |
2 | g.227008186C>T | CA2144110 | COL4A4 | c.243G>A (p.Ala81=) c.4641G>A (p.Ala1547=) c.4086G>A (p.Ala1362=) c.4452G>A (p.Ala1484=) c.4216+13862G>A (n.4216+13862G>A) c.4560G>A (p.Ala1520=) c.4533G>A (p.Ala1511=) c.4387G>A (p.Ala1463Thr) c.4270G>A (p.Ala1424Thr) c.2967G>A (p.Ala989=) n.4951G>A n.4526+13862G>A c.4524G>A (p.Ala1508=) n.4967G>A n.4713G>A n.4542+13862G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.227008187G>A | CA2144111 | COL4A4 | c.242C>T (p.Ala81Val) c.4640C>T (p.Ala1547Val) c.4085C>T (p.Ala1362Val) c.4451C>T (p.Ala1484Val) c.4216+13861C>T (n.4216+13861C>T) c.4559C>T (p.Ala1520Val) c.4532C>T (p.Ala1511Val) c.4386C>T (p.Cys1462=) c.4269C>T (p.Cys1423=) c.2966C>T (p.Ala989Val) n.4950C>T n.4526+13861C>T c.4523C>T (p.Ala1508Val) n.4966C>T n.4712C>T n.4542+13861C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008187G>C | CA351140787 | COL4A4 | c.242C>G (p.Ala81Gly) c.4640C>G (p.Ala1547Gly) c.4085C>G (p.Ala1362Gly) c.4451C>G (p.Ala1484Gly) c.4216+13861C>G (n.4216+13861C>G) c.4559C>G (p.Ala1520Gly) c.4532C>G (p.Ala1511Gly) c.4386C>G (p.Cys1462Trp) c.4269C>G (p.Cys1423Trp) c.2966C>G (p.Ala989Gly) n.4950C>G n.4526+13861C>G c.4523C>G (p.Ala1508Gly) n.4966C>G n.4712C>G n.4542+13861C>G | |
2 | g.227008187G= | CA1332723952 | COL4A4 | c.242C= (p.Ala81=) c.4640C= (p.Ala1547=) c.4085C= (p.Ala1362=) c.4451C= (p.Ala1484=) c.4216+13861C= (n.4216+13861C=) c.4559C= (p.Ala1520=) c.4532C= (p.Ala1511=) c.4386C= (p.Cys1462=) c.4269C= (p.Cys1423=) c.2966C= (p.Ala989=) n.4950C= n.4526+13861C= c.4523C= (p.Ala1508=) n.4966C= n.4712C= n.4542+13861C= | |
2 | g.227008187G>T | CA351140786 | COL4A4 | c.242C>A (p.Ala81Glu) c.4640C>A (p.Ala1547Glu) c.4085C>A (p.Ala1362Glu) c.4451C>A (p.Ala1484Glu) c.4216+13861C>A (n.4216+13861C>A) c.4559C>A (p.Ala1520Glu) c.4532C>A (p.Ala1511Glu) c.4386C>A (p.Cys1462Ter) c.4269C>A (p.Cys1423Ter) c.2966C>A (p.Ala989Glu) n.4950C>A n.4526+13861C>A c.4523C>A (p.Ala1508Glu) n.4966C>A n.4712C>A n.4542+13861C>A | |
2 | g.227008188C>A | CA351140788 | COL4A4 | c.241G>T (p.Ala81Ser) c.4639G>T (p.Ala1547Ser) c.4084G>T (p.Ala1362Ser) c.4450G>T (p.Ala1484Ser) c.4216+13860G>T (n.4216+13860G>T) c.4558G>T (p.Ala1520Ser) c.4531G>T (p.Ala1511Ser) c.4385G>T (p.Cys1462Phe) c.4268G>T (p.Cys1423Phe) c.2965G>T (p.Ala989Ser) n.4949G>T n.4526+13860G>T c.4522G>T (p.Ala1508Ser) n.4965G>T n.4711G>T n.4542+13860G>T | COSMIC |
2 | g.227008188C>G | CA351140789 | COL4A4 | c.241G>C (p.Ala81Pro) c.4639G>C (p.Ala1547Pro) c.4084G>C (p.Ala1362Pro) c.4450G>C (p.Ala1484Pro) c.4216+13860G>C (n.4216+13860G>C) c.4558G>C (p.Ala1520Pro) c.4531G>C (p.Ala1511Pro) c.4385G>C (p.Cys1462Ser) c.4268G>C (p.Cys1423Ser) c.2965G>C (p.Ala989Pro) n.4949G>C n.4526+13860G>C c.4522G>C (p.Ala1508Pro) n.4965G>C n.4711G>C n.4542+13860G>C | gnomAD v4 |
2 | g.227008188C>T | CA351140790 | COL4A4 | c.241G>A (p.Ala81Thr) c.4639G>A (p.Ala1547Thr) c.4084G>A (p.Ala1362Thr) c.4450G>A (p.Ala1484Thr) c.4216+13860G>A (n.4216+13860G>A) c.4558G>A (p.Ala1520Thr) c.4531G>A (p.Ala1511Thr) c.4385G>A (p.Cys1462Tyr) c.4268G>A (p.Cys1423Tyr) c.2965G>A (p.Ala989Thr) n.4949G>A n.4526+13860G>A c.4522G>A (p.Ala1508Thr) n.4965G>A n.4711G>A n.4542+13860G>A | |
2 | g.227008189A>C | CA431671938 | COL4A4 | c.240T>G (p.Ala80=) c.4638T>G (p.Ala1546=) c.4083T>G (p.Ala1361=) c.4449T>G (p.Ala1483=) c.4216+13859T>G (n.4216+13859T>G) c.4557T>G (p.Ala1519=) c.4530T>G (p.Ala1510=) c.4384T>G (p.Cys1462Gly) c.4267T>G (p.Cys1423Gly) c.2964T>G (p.Ala988=) n.4948T>G n.4526+13859T>G c.4521T>G (p.Ala1507=) n.4964T>G n.4710T>G n.4542+13859T>G | gnomAD v4 |
2 | g.227008189A>G | CA431671939 | COL4A4 | c.240T>C (p.Ala80=) c.4638T>C (p.Ala1546=) c.4083T>C (p.Ala1361=) c.4449T>C (p.Ala1483=) c.4216+13859T>C (n.4216+13859T>C) c.4557T>C (p.Ala1519=) c.4530T>C (p.Ala1510=) c.4384T>C (p.Cys1462Arg) c.4267T>C (p.Cys1423Arg) c.2964T>C (p.Ala988=) n.4948T>C n.4526+13859T>C c.4521T>C (p.Ala1507=) n.4964T>C n.4710T>C n.4542+13859T>C | gnomAD v4 |
2 | g.227008189A>T | CA431671940 | COL4A4 | c.240T>A (p.Ala80=) c.4638T>A (p.Ala1546=) c.4083T>A (p.Ala1361=) c.4449T>A (p.Ala1483=) c.4216+13859T>A (n.4216+13859T>A) c.4557T>A (p.Ala1519=) c.4530T>A (p.Ala1510=) c.4384T>A (p.Cys1462Ser) c.4267T>A (p.Cys1423Ser) c.2964T>A (p.Ala988=) n.4948T>A n.4526+13859T>A c.4521T>A (p.Ala1507=) n.4964T>A n.4710T>A n.4542+13859T>A | |
2 | g.227008190G>A | CA351140791 | COL4A4 | c.239C>T (p.Ala80Val) c.4637C>T (p.Ala1546Val) c.4082C>T (p.Ala1361Val) c.4448C>T (p.Ala1483Val) c.4216+13858C>T (n.4216+13858C>T) c.4556C>T (p.Ala1519Val) c.4529C>T (p.Ala1510Val) c.4383C>T (p.Arg1461=) c.4266C>T (p.Arg1422=) c.2963C>T (p.Ala988Val) n.4947C>T n.4526+13858C>T c.4520C>T (p.Ala1507Val) n.4963C>T n.4709C>T n.4542+13858C>T | |
2 | g.227008190G>C | CA351140792 | COL4A4 | c.239C>G (p.Ala80Gly) c.4637C>G (p.Ala1546Gly) c.4082C>G (p.Ala1361Gly) c.4448C>G (p.Ala1483Gly) c.4216+13858C>G (n.4216+13858C>G) c.4556C>G (p.Ala1519Gly) c.4529C>G (p.Ala1510Gly) c.4383C>G (p.Arg1461=) c.4266C>G (p.Arg1422=) c.2963C>G (p.Ala988Gly) n.4947C>G n.4526+13858C>G c.4520C>G (p.Ala1507Gly) n.4963C>G n.4709C>G n.4542+13858C>G | gnomAD v4 |
2 | g.227008190G>T | CA351140793 | COL4A4 | c.239C>A (p.Ala80Asp) c.4637C>A (p.Ala1546Asp) c.4082C>A (p.Ala1361Asp) c.4448C>A (p.Ala1483Asp) c.4216+13858C>A (n.4216+13858C>A) c.4556C>A (p.Ala1519Asp) c.4529C>A (p.Ala1510Asp) c.4383C>A (p.Arg1461=) c.4266C>A (p.Arg1422=) c.2963C>A (p.Ala988Asp) n.4947C>A n.4526+13858C>A c.4520C>A (p.Ala1507Asp) n.4963C>A n.4709C>A n.4542+13858C>A | |
2 | g.227008192_227008193dup | CA2663402742 | COL4A4 | c.238_239dup (p.Ala81LeufsTer6) c.4636_4637dup (p.Ala1547LeufsTer6) c.4081_4082dup (p.Ala1362LeufsTer6) c.4447_4448dup (p.Ala1484LeufsTer6) c.4216+13857_4216+13858dup (n.4216+13857_4216+13858dup) c.4555_4556dup (p.Ala1520LeufsTer6) c.4528_4529dup (p.Ala1511LeufsTer6) c.4382_4383dup (p.Cys1462AlafsTer?) c.4265_4266dup (p.Cys1423AlafsTer?) c.2962_2963dup (p.Ala989LeufsTer6) n.4946_4947dup n.4526+13857_4526+13858dup c.4519_4520dup (p.Ala1508LeufsTer6) n.4962_4963dup n.4708_4709dup n.4542+13857_4542+13858dup | gnomAD v4 |
2 | g.227008191C>A | CA351140794 | COL4A4 | c.238G>T (p.Ala80Ser) c.4636G>T (p.Ala1546Ser) c.4081G>T (p.Ala1361Ser) c.4447G>T (p.Ala1483Ser) c.4216+13857G>T (n.4216+13857G>T) c.4555G>T (p.Ala1519Ser) c.4528G>T (p.Ala1510Ser) c.4382G>T (p.Arg1461Leu) c.4265G>T (p.Arg1422Leu) c.2962G>T (p.Ala988Ser) n.4946G>T n.4526+13857G>T c.4519G>T (p.Ala1507Ser) n.4962G>T n.4708G>T n.4542+13857G>T | gnomAD v4 |
2 | g.227008191C= | CA1332723953 | COL4A4 | c.238G= (p.Ala80=) c.4636G= (p.Ala1546=) c.4081G= (p.Ala1361=) c.4447G= (p.Ala1483=) c.4216+13857G= (n.4216+13857G=) c.4555G= (p.Ala1519=) c.4528G= (p.Ala1510=) c.4382G= (p.Arg1461=) c.4265G= (p.Arg1422=) c.2962G= (p.Ala988=) n.4946G= n.4526+13857G= c.4519G= (p.Ala1507=) n.4962G= n.4708G= n.4542+13857G= | |
2 | g.227008191C>G | CA351140795 | COL4A4 | c.238G>C (p.Ala80Pro) c.4636G>C (p.Ala1546Pro) c.4081G>C (p.Ala1361Pro) c.4447G>C (p.Ala1483Pro) c.4216+13857G>C (n.4216+13857G>C) c.4555G>C (p.Ala1519Pro) c.4528G>C (p.Ala1510Pro) c.4382G>C (p.Arg1461Pro) c.4265G>C (p.Arg1422Pro) c.2962G>C (p.Ala988Pro) n.4946G>C n.4526+13857G>C c.4519G>C (p.Ala1507Pro) n.4962G>C n.4708G>C n.4542+13857G>C | |
2 | g.227008191C>T | CA2144112 | COL4A4 | c.238G>A (p.Ala80Thr) c.4636G>A (p.Ala1546Thr) c.4081G>A (p.Ala1361Thr) c.4447G>A (p.Ala1483Thr) c.4216+13857G>A (n.4216+13857G>A) c.4555G>A (p.Ala1519Thr) c.4528G>A (p.Ala1510Thr) c.4382G>A (p.Arg1461His) c.4265G>A (p.Arg1422His) c.2962G>A (p.Ala988Thr) n.4946G>A n.4526+13857G>A c.4519G>A (p.Ala1507Thr) n.4962G>A n.4708G>A n.4542+13857G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008192G>A | CA2144113 | COL4A4 | c.237C>T (p.Ser79=) c.4635C>T (p.Ser1545=) c.4080C>T (p.Ser1360=) c.4446C>T (p.Ser1482=) c.4216+13856C>T (n.4216+13856C>T) c.4554C>T (p.Ser1518=) c.4527C>T (p.Ser1509=) c.4381C>T (p.Arg1461Cys) c.4264C>T (p.Arg1422Cys) c.2961C>T (p.Ser987=) n.4945C>T n.4526+13856C>T c.4518C>T (p.Ser1506=) n.4961C>T n.4707C>T n.4542+13856C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008192G>C | CA351140796 | COL4A4 | c.237C>G (p.Ser79Arg) c.4635C>G (p.Ser1545Arg) c.4080C>G (p.Ser1360Arg) c.4446C>G (p.Ser1482Arg) c.4216+13856C>G (n.4216+13856C>G) c.4554C>G (p.Ser1518Arg) c.4527C>G (p.Ser1509Arg) c.4381C>G (p.Arg1461Gly) c.4264C>G (p.Arg1422Gly) c.2961C>G (p.Ser987Arg) n.4945C>G n.4526+13856C>G c.4518C>G (p.Ser1506Arg) n.4961C>G n.4707C>G n.4542+13856C>G | |
2 | g.227008192G= | CA1332723954 | COL4A4 | c.237C= (p.Ser79=) c.4635C= (p.Ser1545=) c.4080C= (p.Ser1360=) c.4446C= (p.Ser1482=) c.4216+13856C= (n.4216+13856C=) c.4554C= (p.Ser1518=) c.4527C= (p.Ser1509=) c.4381C= (p.Arg1461=) c.4264C= (p.Arg1422=) c.2961C= (p.Ser987=) n.4945C= n.4526+13856C= c.4518C= (p.Ser1506=) n.4961C= n.4707C= n.4542+13856C= | |
2 | g.227008192G>T | CA351140797 | COL4A4 | c.237C>A (p.Ser79Arg) c.4635C>A (p.Ser1545Arg) c.4080C>A (p.Ser1360Arg) c.4446C>A (p.Ser1482Arg) c.4216+13856C>A (n.4216+13856C>A) c.4554C>A (p.Ser1518Arg) c.4527C>A (p.Ser1509Arg) c.4381C>A (p.Arg1461Ser) c.4264C>A (p.Arg1422Ser) c.2961C>A (p.Ser987Arg) n.4945C>A n.4526+13856C>A c.4518C>A (p.Ser1506Arg) n.4961C>A n.4707C>A n.4542+13856C>A | gnomAD v4 |
2 | g.227008193C>A | CA351140800 | COL4A4 | c.236G>T (p.Ser79Ile) c.4634G>T (p.Ser1545Ile) c.4079G>T (p.Ser1360Ile) c.4445G>T (p.Ser1482Ile) c.4216+13855G>T (n.4216+13855G>T) c.4553G>T (p.Ser1518Ile) c.4526G>T (p.Ser1509Ile) c.4380G>T (p.Gln1460His) c.4263G>T (p.Gln1421His) c.2960G>T (p.Ser987Ile) n.4944G>T n.4526+13855G>T c.4517G>T (p.Ser1506Ile) n.4960G>T n.4706G>T n.4542+13855G>T | |
2 | g.227008193C>G | CA351140798 | COL4A4 | c.236G>C (p.Ser79Thr) c.4634G>C (p.Ser1545Thr) c.4079G>C (p.Ser1360Thr) c.4445G>C (p.Ser1482Thr) c.4216+13855G>C (n.4216+13855G>C) c.4553G>C (p.Ser1518Thr) c.4526G>C (p.Ser1509Thr) c.4380G>C (p.Gln1460His) c.4263G>C (p.Gln1421His) c.2960G>C (p.Ser987Thr) n.4944G>C n.4526+13855G>C c.4517G>C (p.Ser1506Thr) n.4960G>C n.4706G>C n.4542+13855G>C | |
2 | g.227008193C>T | CA351140799 | COL4A4 | c.236G>A (p.Ser79Asn) c.4634G>A (p.Ser1545Asn) c.4079G>A (p.Ser1360Asn) c.4445G>A (p.Ser1482Asn) c.4216+13855G>A (n.4216+13855G>A) c.4553G>A (p.Ser1518Asn) c.4526G>A (p.Ser1509Asn) c.4380G>A (p.Gln1460=) c.4263G>A (p.Gln1421=) c.2960G>A (p.Ser987Asn) n.4944G>A n.4526+13855G>A c.4517G>A (p.Ser1506Asn) n.4960G>A n.4706G>A n.4542+13855G>A | |
2 | g.227008194T>A | CA67238299 | COL4A4 | c.235A>T (p.Ser79Cys) c.4633A>T (p.Ser1545Cys) c.4078A>T (p.Ser1360Cys) c.4444A>T (p.Ser1482Cys) c.4216+13854A>T (n.4216+13854A>T) c.4552A>T (p.Ser1518Cys) c.4525A>T (p.Ser1509Cys) c.4379A>T (p.Gln1460Leu) c.4262A>T (p.Gln1421Leu) c.2959A>T (p.Ser987Cys) n.4943A>T n.4526+13854A>T c.4516A>T (p.Ser1506Cys) n.4959A>T n.4705A>T n.4542+13854A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008194T>C | CA351140801 | COL4A4 | c.235A>G (p.Ser79Gly) c.4633A>G (p.Ser1545Gly) c.4078A>G (p.Ser1360Gly) c.4444A>G (p.Ser1482Gly) c.4216+13854A>G (n.4216+13854A>G) c.4552A>G (p.Ser1518Gly) c.4525A>G (p.Ser1509Gly) c.4379A>G (p.Gln1460Arg) c.4262A>G (p.Gln1421Arg) c.2959A>G (p.Ser987Gly) n.4943A>G n.4526+13854A>G c.4516A>G (p.Ser1506Gly) n.4959A>G n.4705A>G n.4542+13854A>G | |
2 | g.227008194T>G | CA351140802 | COL4A4 | c.235A>C (p.Ser79Arg) c.4633A>C (p.Ser1545Arg) c.4078A>C (p.Ser1360Arg) c.4444A>C (p.Ser1482Arg) c.4216+13854A>C (n.4216+13854A>C) c.4552A>C (p.Ser1518Arg) c.4525A>C (p.Ser1509Arg) c.4379A>C (p.Gln1460Pro) c.4262A>C (p.Gln1421Pro) c.2959A>C (p.Ser987Arg) n.4943A>C n.4526+13854A>C c.4516A>C (p.Ser1506Arg) n.4959A>C n.4705A>C n.4542+13854A>C | |
2 | g.227008194T= | CA1332723955 | COL4A4 | c.235A= (p.Ser79=) c.4633A= (p.Ser1545=) c.4078A= (p.Ser1360=) c.4444A= (p.Ser1482=) c.4216+13854A= (n.4216+13854A=) c.4552A= (p.Ser1518=) c.4525A= (p.Ser1509=) c.4379A= (p.Gln1460=) c.4262A= (p.Gln1421=) c.2959A= (p.Ser987=) n.4943A= n.4526+13854A= c.4516A= (p.Ser1506=) n.4959A= n.4705A= n.4542+13854A= | |
2 | g.227008195G>A | CA431671947 | COL4A4 | c.234C>T (p.Ala78=) c.4632C>T (p.Ala1544=) c.4077C>T (p.Ala1359=) c.4443C>T (p.Ala1481=) c.4216+13853C>T (n.4216+13853C>T) c.4551C>T (p.Ala1517=) c.4524C>T (p.Ala1508=) c.4378C>T (p.Gln1460Ter) c.4261C>T (p.Gln1421Ter) c.2958C>T (p.Ala986=) n.4942C>T n.4526+13853C>T c.4515C>T (p.Ala1505=) n.4958C>T n.4704C>T n.4542+13853C>T | |
2 | g.227008195G>C | CA431671948 | COL4A4 | c.234C>G (p.Ala78=) c.4632C>G (p.Ala1544=) c.4077C>G (p.Ala1359=) c.4443C>G (p.Ala1481=) c.4216+13853C>G (n.4216+13853C>G) c.4551C>G (p.Ala1517=) c.4524C>G (p.Ala1508=) c.4378C>G (p.Gln1460Glu) c.4261C>G (p.Gln1421Glu) c.2958C>G (p.Ala986=) n.4942C>G n.4526+13853C>G c.4515C>G (p.Ala1505=) n.4958C>G n.4704C>G n.4542+13853C>G | |
2 | g.227008195G>T | CA431671949 | COL4A4 | c.234C>A (p.Ala78=) c.4632C>A (p.Ala1544=) c.4077C>A (p.Ala1359=) c.4443C>A (p.Ala1481=) c.4216+13853C>A (n.4216+13853C>A) c.4551C>A (p.Ala1517=) c.4524C>A (p.Ala1508=) c.4378C>A (p.Gln1460Lys) c.4261C>A (p.Gln1421Lys) c.2958C>A (p.Ala986=) n.4942C>A n.4526+13853C>A c.4515C>A (p.Ala1505=) n.4958C>A n.4704C>A n.4542+13853C>A | |
2 | g.227008195_227008199delinsGGCCA | CA1332723956 | COL4A4 | c.230_234delinsTGGCC (p.Leu77=) c.4628_4632delinsTGGCC (p.Leu1543=) c.4073_4077delinsTGGCC (p.Leu1358=) c.4439_4443delinsTGGCC (p.Leu1480=) c.4216+13849_4216+13853delinsTGGCC (n.4216+13849_4216+13853delinsTGGCC) c.4547_4551delinsTGGCC (p.Leu1516=) c.4520_4524delinsTGGCC (p.Leu1507=) c.4374_4378delinsTGGCC (p.Ala1458=) c.4257_4261delinsTGGCC (p.Ala1419=) c.2954_2958delinsTGGCC (p.Leu985=) n.4938_4942delinsTGGCC n.4526+13849_4526+13853delinsTGGCC c.4511_4515delinsTGGCC (p.Leu1504=) n.4954_4958delinsTGGCC n.4700_4704delinsTGGCC n.4542+13849_4542+13853delinsTGGCC | |
2 | g.227008196G>A | CA351140803 | COL4A4 | c.233C>T (p.Ala78Val) c.4631C>T (p.Ala1544Val) c.4076C>T (p.Ala1359Val) c.4442C>T (p.Ala1481Val) c.4216+13852C>T (n.4216+13852C>T) c.4550C>T (p.Ala1517Val) c.4523C>T (p.Ala1508Val) c.4377C>T (p.Gly1459=) c.4260C>T (p.Gly1420=) c.2957C>T (p.Ala986Val) n.4941C>T n.4526+13852C>T c.4514C>T (p.Ala1505Val) n.4957C>T n.4703C>T n.4542+13852C>T | |
2 | g.227008196G>C | CA351140804 | COL4A4 | c.233C>G (p.Ala78Gly) c.4631C>G (p.Ala1544Gly) c.4076C>G (p.Ala1359Gly) c.4442C>G (p.Ala1481Gly) c.4216+13852C>G (n.4216+13852C>G) c.4550C>G (p.Ala1517Gly) c.4523C>G (p.Ala1508Gly) c.4377C>G (p.Gly1459=) c.4260C>G (p.Gly1420=) c.2957C>G (p.Ala986Gly) n.4941C>G n.4526+13852C>G c.4514C>G (p.Ala1505Gly) n.4957C>G n.4703C>G n.4542+13852C>G | dbSNP |
2 | g.227008196G= | CA1332723957 | COL4A4 | c.233C= (p.Ala78=) c.4631C= (p.Ala1544=) c.4076C= (p.Ala1359=) c.4442C= (p.Ala1481=) c.4216+13852C= (n.4216+13852C=) c.4550C= (p.Ala1517=) c.4523C= (p.Ala1508=) c.4377C= (p.Gly1459=) c.4260C= (p.Gly1420=) c.2957C= (p.Ala986=) n.4941C= n.4526+13852C= c.4514C= (p.Ala1505=) n.4957C= n.4703C= n.4542+13852C= | |
2 | g.227008196G>T | CA351140805 | COL4A4 | c.233C>A (p.Ala78Asp) c.4631C>A (p.Ala1544Asp) c.4076C>A (p.Ala1359Asp) c.4442C>A (p.Ala1481Asp) c.4216+13852C>A (n.4216+13852C>A) c.4550C>A (p.Ala1517Asp) c.4523C>A (p.Ala1508Asp) c.4377C>A (p.Gly1459=) c.4260C>A (p.Gly1420=) c.2957C>A (p.Ala986Asp) n.4941C>A n.4526+13852C>A c.4514C>A (p.Ala1505Asp) n.4957C>A n.4703C>A n.4542+13852C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008201_227008204del | CA915941765 | COL4A4 | c.230_233del (p.Leu77ProfsTer8) c.4628_4631del (p.Leu1543ProfsTer8) c.4073_4076del (p.Leu1358ProfsTer8) c.4439_4442del (p.Leu1480ProfsTer8) c.4216+13849_4216+13852del (n.4216+13849_4216+13852del) c.4547_4550del (p.Leu1516ProfsTer8) c.4520_4523del (p.Leu1507ProfsTer8) c.4374_4377del (p.Gly1459SerfsTer?) c.4257_4260del (p.Gly1420SerfsTer?) c.2954_2957del (p.Leu985ProfsTer8) n.4938_4941del n.4526+13849_4526+13852del c.4511_4514del (p.Leu1504ProfsTer8) n.4954_4957del n.4700_4703del n.4542+13849_4542+13852del | ClinVar dbSNP |
2 | g.227008197C>A | CA351140806 | COL4A4 | c.232G>T (p.Ala78Ser) c.4630G>T (p.Ala1544Ser) c.4075G>T (p.Ala1359Ser) c.4441G>T (p.Ala1481Ser) c.4216+13851G>T (n.4216+13851G>T) c.4549G>T (p.Ala1517Ser) c.4522G>T (p.Ala1508Ser) c.4376G>T (p.Gly1459Val) c.4259G>T (p.Gly1420Val) c.2956G>T (p.Ala986Ser) n.4940G>T n.4526+13851G>T c.4513G>T (p.Ala1505Ser) n.4956G>T n.4702G>T n.4542+13851G>T | |
2 | g.227008197C= | CA1332723958 | COL4A4 | c.232G= (p.Ala78=) c.4630G= (p.Ala1544=) c.4075G= (p.Ala1359=) c.4441G= (p.Ala1481=) c.4216+13851G= (n.4216+13851G=) c.4549G= (p.Ala1517=) c.4522G= (p.Ala1508=) c.4376G= (p.Gly1459=) c.4259G= (p.Gly1420=) c.2956G= (p.Ala986=) n.4940G= n.4526+13851G= c.4513G= (p.Ala1505=) n.4956G= n.4702G= n.4542+13851G= | |
2 | g.227008197C>G | CA351140807 | COL4A4 | c.232G>C (p.Ala78Pro) c.4630G>C (p.Ala1544Pro) c.4075G>C (p.Ala1359Pro) c.4441G>C (p.Ala1481Pro) c.4216+13851G>C (n.4216+13851G>C) c.4549G>C (p.Ala1517Pro) c.4522G>C (p.Ala1508Pro) c.4376G>C (p.Gly1459Ala) c.4259G>C (p.Gly1420Ala) c.2956G>C (p.Ala986Pro) n.4940G>C n.4526+13851G>C c.4513G>C (p.Ala1505Pro) n.4956G>C n.4702G>C n.4542+13851G>C | gnomAD v4 |
2 | g.227008197C>T | CA2144114 | COL4A4 | c.232G>A (p.Ala78Thr) c.4630G>A (p.Ala1544Thr) c.4075G>A (p.Ala1359Thr) c.4441G>A (p.Ala1481Thr) c.4216+13851G>A (n.4216+13851G>A) c.4549G>A (p.Ala1517Thr) c.4522G>A (p.Ala1508Thr) c.4376G>A (p.Gly1459Asp) c.4259G>A (p.Gly1420Asp) c.2956G>A (p.Ala986Thr) n.4940G>A n.4526+13851G>A c.4513G>A (p.Ala1505Thr) n.4956G>A n.4702G>A n.4542+13851G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227008198C>A | CA431671953 | COL4A4 | c.231G>T (p.Leu77=) c.4629G>T (p.Leu1543=) c.4074G>T (p.Leu1358=) c.4440G>T (p.Leu1480=) c.4216+13850G>T (n.4216+13850G>T) c.4548G>T (p.Leu1516=) c.4521G>T (p.Leu1507=) c.4375G>T (p.Gly1459Cys) c.4258G>T (p.Gly1420Cys) c.2955G>T (p.Leu985=) n.4939G>T n.4526+13850G>T c.4512G>T (p.Leu1504=) n.4955G>T n.4701G>T n.4542+13850G>T | |
2 | g.227008198C>G | CA431671954 | COL4A4 | c.231G>C (p.Leu77=) c.4629G>C (p.Leu1543=) c.4074G>C (p.Leu1358=) c.4440G>C (p.Leu1480=) c.4216+13850G>C (n.4216+13850G>C) c.4548G>C (p.Leu1516=) c.4521G>C (p.Leu1507=) c.4375G>C (p.Gly1459Arg) c.4258G>C (p.Gly1420Arg) c.2955G>C (p.Leu985=) n.4939G>C n.4526+13850G>C c.4512G>C (p.Leu1504=) n.4955G>C n.4701G>C n.4542+13850G>C | |
2 | g.227008198C>T | CA431671955 | COL4A4 | c.231G>A (p.Leu77=) c.4629G>A (p.Leu1543=) c.4074G>A (p.Leu1358=) c.4440G>A (p.Leu1480=) c.4216+13850G>A (n.4216+13850G>A) c.4548G>A (p.Leu1516=) c.4521G>A (p.Leu1507=) c.4375G>A (p.Gly1459Ser) c.4258G>A (p.Gly1420Ser) c.2955G>A (p.Leu985=) n.4939G>A n.4526+13850G>A c.4512G>A (p.Leu1504=) n.4955G>A n.4701G>A n.4542+13850G>A | |
2 | g.227008199A>C | CA351140808 | COL4A4 | c.230T>G (p.Leu77Arg) c.4628T>G (p.Leu1543Arg) c.4073T>G (p.Leu1358Arg) c.4439T>G (p.Leu1480Arg) c.4216+13849T>G (n.4216+13849T>G) c.4547T>G (p.Leu1516Arg) c.4520T>G (p.Leu1507Arg) c.4374T>G (p.Ala1458=) c.4257T>G (p.Ala1419=) c.2954T>G (p.Leu985Arg) n.4938T>G n.4526+13849T>G c.4511T>G (p.Leu1504Arg) n.4954T>G n.4700T>G n.4542+13849T>G | |
2 | g.227008199A>G | CA351140809 | COL4A4 | c.230T>C (p.Leu77Pro) c.4628T>C (p.Leu1543Pro) c.4073T>C (p.Leu1358Pro) c.4439T>C (p.Leu1480Pro) c.4216+13849T>C (n.4216+13849T>C) c.4547T>C (p.Leu1516Pro) c.4520T>C (p.Leu1507Pro) c.4374T>C (p.Ala1458=) c.4257T>C (p.Ala1419=) c.2954T>C (p.Leu985Pro) n.4938T>C n.4526+13849T>C c.4511T>C (p.Leu1504Pro) n.4954T>C n.4700T>C n.4542+13849T>C | |
2 | g.227008199A>T | CA351140810 | COL4A4 | c.230T>A (p.Leu77Gln) c.4628T>A (p.Leu1543Gln) c.4073T>A (p.Leu1358Gln) c.4439T>A (p.Leu1480Gln) c.4216+13849T>A (n.4216+13849T>A) c.4547T>A (p.Leu1516Gln) c.4520T>A (p.Leu1507Gln) c.4374T>A (p.Ala1458=) c.4257T>A (p.Ala1419=) c.2954T>A (p.Leu985Gln) n.4938T>A n.4526+13849T>A c.4511T>A (p.Leu1504Gln) n.4954T>A n.4700T>A n.4542+13849T>A | gnomAD v4 |
2 | g.227008200G>A | CA431671956 | COL4A4 | c.229C>T (p.Leu77=) c.4627C>T (p.Leu1543=) c.4072C>T (p.Leu1358=) c.4438C>T (p.Leu1480=) c.4216+13848C>T (n.4216+13848C>T) c.4546C>T (p.Leu1516=) c.4519C>T (p.Leu1507=) c.4373C>T (p.Ala1458Val) c.4256C>T (p.Ala1419Val) c.2953C>T (p.Leu985=) n.4937C>T n.4526+13848C>T c.4510C>T (p.Leu1504=) n.4953C>T n.4699C>T n.4542+13848C>T | |
2 | g.227008200G>C | CA351140811 | COL4A4 | c.229C>G (p.Leu77Val) c.4627C>G (p.Leu1543Val) c.4072C>G (p.Leu1358Val) c.4438C>G (p.Leu1480Val) c.4216+13848C>G (n.4216+13848C>G) c.4546C>G (p.Leu1516Val) c.4519C>G (p.Leu1507Val) c.4373C>G (p.Ala1458Gly) c.4256C>G (p.Ala1419Gly) c.2953C>G (p.Leu985Val) n.4937C>G n.4526+13848C>G c.4510C>G (p.Leu1504Val) n.4953C>G n.4699C>G n.4542+13848C>G | |
2 | g.227008200G>T | CA351140812 | COL4A4 | c.229C>A (p.Leu77Met) c.4627C>A (p.Leu1543Met) c.4072C>A (p.Leu1358Met) c.4438C>A (p.Leu1480Met) c.4216+13848C>A (n.4216+13848C>A) c.4546C>A (p.Leu1516Met) c.4519C>A (p.Leu1507Met) c.4373C>A (p.Ala1458Asp) c.4256C>A (p.Ala1419Asp) c.2953C>A (p.Leu985Met) n.4937C>A n.4526+13848C>A c.4510C>A (p.Leu1504Met) n.4953C>A n.4699C>A n.4542+13848C>A | |
2 | g.227008201C>A | CA351140813 | COL4A4 | c.228G>T (p.Trp76Cys) c.4626G>T (p.Trp1542Cys) c.4071G>T (p.Trp1357Cys) c.4437G>T (p.Trp1479Cys) c.4216+13847G>T (n.4216+13847G>T) c.4545G>T (p.Trp1515Cys) c.4518G>T (p.Trp1506Cys) c.4372G>T (p.Ala1458Ser) c.4255G>T (p.Ala1419Ser) c.2952G>T (p.Trp984Cys) n.4936G>T n.4526+13847G>T c.4509G>T (p.Trp1503Cys) n.4952G>T n.4698G>T n.4542+13847G>T | |
2 | g.227008201C>G | CA351140815 | COL4A4 | c.228G>C (p.Trp76Cys) c.4626G>C (p.Trp1542Cys) c.4071G>C (p.Trp1357Cys) c.4437G>C (p.Trp1479Cys) c.4216+13847G>C (n.4216+13847G>C) c.4545G>C (p.Trp1515Cys) c.4518G>C (p.Trp1506Cys) c.4372G>C (p.Ala1458Pro) c.4255G>C (p.Ala1419Pro) c.2952G>C (p.Trp984Cys) n.4936G>C n.4526+13847G>C c.4509G>C (p.Trp1503Cys) n.4952G>C n.4698G>C n.4542+13847G>C | |
2 | g.227008201C>T | CA351140814 | COL4A4 | c.228G>A (p.Trp76Ter) c.4626G>A (p.Trp1542Ter) c.4071G>A (p.Trp1357Ter) c.4437G>A (p.Trp1479Ter) c.4216+13847G>A (n.4216+13847G>A) c.4545G>A (p.Trp1515Ter) c.4518G>A (p.Trp1506Ter) c.4372G>A (p.Ala1458Thr) c.4255G>A (p.Ala1419Thr) c.2952G>A (p.Trp984Ter) n.4936G>A n.4526+13847G>A c.4509G>A (p.Trp1503Ter) n.4952G>A n.4698G>A n.4542+13847G>A | |
2 | g.227008202C>A | CA351140816 | COL4A4 | c.227G>T (p.Trp76Leu) c.4625G>T (p.Trp1542Leu) c.4070G>T (p.Trp1357Leu) c.4436G>T (p.Trp1479Leu) c.4216+13846G>T (n.4216+13846G>T) c.4544G>T (p.Trp1515Leu) c.4517G>T (p.Trp1506Leu) c.4371G>T (p.Leu1457=) c.4254G>T (p.Leu1418=) c.2951G>T (p.Trp984Leu) n.4935G>T n.4526+13846G>T c.4508G>T (p.Trp1503Leu) n.4951G>T n.4697G>T n.4542+13846G>T | |
2 | g.227008202C= | CA1332723959 | COL4A4 | c.227G= (p.Trp76=) c.4625G= (p.Trp1542=) c.4070G= (p.Trp1357=) c.4436G= (p.Trp1479=) c.4216+13846G= (n.4216+13846G=) c.4544G= (p.Trp1515=) c.4517G= (p.Trp1506=) c.4371G= (p.Leu1457=) c.4254G= (p.Leu1418=) c.2951G= (p.Trp984=) n.4935G= n.4526+13846G= c.4508G= (p.Trp1503=) n.4951G= n.4697G= n.4542+13846G= | |
2 | g.227008202C>G | CA351140817 | COL4A4 | c.227G>C (p.Trp76Ser) c.4625G>C (p.Trp1542Ser) c.4070G>C (p.Trp1357Ser) c.4436G>C (p.Trp1479Ser) c.4216+13846G>C (n.4216+13846G>C) c.4544G>C (p.Trp1515Ser) c.4517G>C (p.Trp1506Ser) c.4371G>C (p.Leu1457=) c.4254G>C (p.Leu1418=) c.2951G>C (p.Trp984Ser) n.4935G>C n.4526+13846G>C c.4508G>C (p.Trp1503Ser) n.4951G>C n.4697G>C n.4542+13846G>C | |
2 | g.227008202C>T | CA351140818 | COL4A4 | c.227G>A (p.Trp76Ter) c.4625G>A (p.Trp1542Ter) c.4070G>A (p.Trp1357Ter) c.4436G>A (p.Trp1479Ter) c.4216+13846G>A (n.4216+13846G>A) c.4544G>A (p.Trp1515Ter) c.4517G>A (p.Trp1506Ter) c.4371G>A (p.Leu1457=) c.4254G>A (p.Leu1418=) c.2951G>A (p.Trp984Ter) n.4935G>A n.4526+13846G>A c.4508G>A (p.Trp1503Ter) n.4951G>A n.4697G>A n.4542+13846G>A | ClinVar |
2 | g.227008203A= | CA1332723960 | COL4A4 | c.226T= (p.Trp76=) c.4624T= (p.Trp1542=) c.4069T= (p.Trp1357=) c.4435T= (p.Trp1479=) c.4216+13845T= (n.4216+13845T=) c.4543T= (p.Trp1515=) c.4516T= (p.Trp1506=) c.4370T= (p.Leu1457=) c.4253T= (p.Leu1418=) c.2950T= (p.Trp984=) n.4934T= n.4526+13845T= c.4507T= (p.Trp1503=) n.4950T= n.4696T= n.4542+13845T= | |
2 | g.227008203A>C | CA351140819 | COL4A4 | c.226T>G (p.Trp76Gly) c.4624T>G (p.Trp1542Gly) c.4069T>G (p.Trp1357Gly) c.4435T>G (p.Trp1479Gly) c.4216+13845T>G (n.4216+13845T>G) c.4543T>G (p.Trp1515Gly) c.4516T>G (p.Trp1506Gly) c.4370T>G (p.Leu1457Arg) c.4253T>G (p.Leu1418Arg) c.2950T>G (p.Trp984Gly) n.4934T>G n.4526+13845T>G c.4507T>G (p.Trp1503Gly) n.4950T>G n.4696T>G n.4542+13845T>G | |
2 | g.227008203A>G | CA351140820 | COL4A4 | c.226T>C (p.Trp76Arg) c.4624T>C (p.Trp1542Arg) c.4069T>C (p.Trp1357Arg) c.4435T>C (p.Trp1479Arg) c.4216+13845T>C (n.4216+13845T>C) c.4543T>C (p.Trp1515Arg) c.4516T>C (p.Trp1506Arg) c.4370T>C (p.Leu1457Pro) c.4253T>C (p.Leu1418Pro) c.2950T>C (p.Trp984Arg) n.4934T>C n.4526+13845T>C c.4507T>C (p.Trp1503Arg) n.4950T>C n.4696T>C n.4542+13845T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008203A>T | CA351140821 | COL4A4 | c.226T>A (p.Trp76Arg) c.4624T>A (p.Trp1542Arg) c.4069T>A (p.Trp1357Arg) c.4435T>A (p.Trp1479Arg) c.4216+13845T>A (n.4216+13845T>A) c.4543T>A (p.Trp1515Arg) c.4516T>A (p.Trp1506Arg) c.4370T>A (p.Leu1457Gln) c.4253T>A (p.Leu1418Gln) c.2950T>A (p.Trp984Arg) n.4934T>A n.4526+13845T>A c.4507T>A (p.Trp1503Arg) n.4950T>A n.4696T>A n.4542+13845T>A | |
2 | g.227008203_227008206dup | CA658821839 | COL4A4 | c.223_226dup (p.Trp76LeufsTer16) c.4621_4624dup (p.Trp1542LeufsTer16) c.4066_4069dup (p.Trp1357LeufsTer16) c.4432_4435dup (p.Trp1479LeufsTer16) c.4216+13842_4216+13845dup (n.4216+13842_4216+13845dup) c.4540_4543dup (p.Trp1515LeufsTer16) c.4513_4516dup (p.Trp1506LeufsTer16) c.4367_4370dup (p.Ala1458ThrfsTer11) c.4250_4253dup (p.Ala1419ThrfsTer11) c.2947_2950dup (p.Trp984LeufsTer16) n.4931_4934dup n.4526+13842_4526+13845dup c.4504_4507dup (p.Trp1503LeufsTer16) n.4947_4950dup n.4693_4696dup n.4542+13842_4542+13845dup | ClinVar dbSNP gnomAD v4 |
2 | g.227008204G>A | CA431671959 | COL4A4 | c.225C>T (p.Tyr75=) c.4623C>T (p.Tyr1541=) c.4068C>T (p.Tyr1356=) c.4434C>T (p.Tyr1478=) c.4216+13844C>T (n.4216+13844C>T) c.4542C>T (p.Tyr1514=) c.4515C>T (p.Tyr1505=) c.4369C>T (p.Leu1457=) c.4252C>T (p.Leu1418=) c.2949C>T (p.Tyr983=) n.4933C>T n.4526+13844C>T c.4506C>T (p.Tyr1502=) n.4949C>T n.4695C>T n.4542+13844C>T | |
2 | g.227008204G>C | CA67238300 | COL4A4 | c.225C>G (p.Tyr75Ter) c.4623C>G (p.Tyr1541Ter) c.4068C>G (p.Tyr1356Ter) c.4434C>G (p.Tyr1478Ter) c.4216+13844C>G (n.4216+13844C>G) c.4542C>G (p.Tyr1514Ter) c.4515C>G (p.Tyr1505Ter) c.4369C>G (p.Leu1457Val) c.4252C>G (p.Leu1418Val) c.2949C>G (p.Tyr983Ter) n.4933C>G n.4526+13844C>G c.4506C>G (p.Tyr1502Ter) n.4949C>G n.4695C>G n.4542+13844C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008204G= | CA1332723961 | COL4A4 | c.225C= (p.Tyr75=) c.4623C= (p.Tyr1541=) c.4068C= (p.Tyr1356=) c.4434C= (p.Tyr1478=) c.4216+13844C= (n.4216+13844C=) c.4542C= (p.Tyr1514=) c.4515C= (p.Tyr1505=) c.4369C= (p.Leu1457=) c.4252C= (p.Leu1418=) c.2949C= (p.Tyr983=) n.4933C= n.4526+13844C= c.4506C= (p.Tyr1502=) n.4949C= n.4695C= n.4542+13844C= | |
2 | g.227008204G>T | CA351140822 | COL4A4 | c.225C>A (p.Tyr75Ter) c.4623C>A (p.Tyr1541Ter) c.4068C>A (p.Tyr1356Ter) c.4434C>A (p.Tyr1478Ter) c.4216+13844C>A (n.4216+13844C>A) c.4542C>A (p.Tyr1514Ter) c.4515C>A (p.Tyr1505Ter) c.4369C>A (p.Leu1457Met) c.4252C>A (p.Leu1418Met) c.2949C>A (p.Tyr983Ter) n.4933C>A n.4526+13844C>A c.4506C>A (p.Tyr1502Ter) n.4949C>A n.4695C>A n.4542+13844C>A | |
2 | g.227008205T>A | CA351140823 | COL4A4 | c.224A>T (p.Tyr75Phe) c.4622A>T (p.Tyr1541Phe) c.4067A>T (p.Tyr1356Phe) c.4433A>T (p.Tyr1478Phe) c.4216+13843A>T (n.4216+13843A>T) c.4541A>T (p.Tyr1514Phe) c.4514A>T (p.Tyr1505Phe) c.4368A>T (p.Leu1456=) c.4251A>T (p.Leu1417=) c.2948A>T (p.Tyr983Phe) n.4932A>T n.4526+13843A>T c.4505A>T (p.Tyr1502Phe) n.4948A>T n.4694A>T n.4542+13843A>T | |
2 | g.227008205T>C | CA351140824 | COL4A4 | c.224A>G (p.Tyr75Cys) c.4622A>G (p.Tyr1541Cys) c.4067A>G (p.Tyr1356Cys) c.4433A>G (p.Tyr1478Cys) c.4216+13843A>G (n.4216+13843A>G) c.4541A>G (p.Tyr1514Cys) c.4514A>G (p.Tyr1505Cys) c.4368A>G (p.Leu1456=) c.4251A>G (p.Leu1417=) c.2948A>G (p.Tyr983Cys) n.4932A>G n.4526+13843A>G c.4505A>G (p.Tyr1502Cys) n.4948A>G n.4694A>G n.4542+13843A>G | |
2 | g.227008205T>G | CA351140825 | COL4A4 | c.224A>C (p.Tyr75Ser) c.4622A>C (p.Tyr1541Ser) c.4067A>C (p.Tyr1356Ser) c.4433A>C (p.Tyr1478Ser) c.4216+13843A>C (n.4216+13843A>C) c.4541A>C (p.Tyr1514Ser) c.4514A>C (p.Tyr1505Ser) c.4368A>C (p.Leu1456=) c.4251A>C (p.Leu1417=) c.2948A>C (p.Tyr983Ser) n.4932A>C n.4526+13843A>C c.4505A>C (p.Tyr1502Ser) n.4948A>C n.4694A>C n.4542+13843A>C | |
2 | g.227008206A>C | CA351140828 | COL4A4 | c.223T>G (p.Tyr75Asp) c.4621T>G (p.Tyr1541Asp) c.4066T>G (p.Tyr1356Asp) c.4432T>G (p.Tyr1478Asp) c.4216+13842T>G (n.4216+13842T>G) c.4540T>G (p.Tyr1514Asp) c.4513T>G (p.Tyr1505Asp) c.4367T>G (p.Leu1456Arg) c.4250T>G (p.Leu1417Arg) c.2947T>G (p.Tyr983Asp) n.4931T>G n.4526+13842T>G c.4504T>G (p.Tyr1502Asp) n.4947T>G n.4693T>G n.4542+13842T>G | |
2 | g.227008206A>G | CA351140827 | COL4A4 | c.223T>C (p.Tyr75His) c.4621T>C (p.Tyr1541His) c.4066T>C (p.Tyr1356His) c.4432T>C (p.Tyr1478His) c.4216+13842T>C (n.4216+13842T>C) c.4540T>C (p.Tyr1514His) c.4513T>C (p.Tyr1505His) c.4367T>C (p.Leu1456Pro) c.4250T>C (p.Leu1417Pro) c.2947T>C (p.Tyr983His) n.4931T>C n.4526+13842T>C c.4504T>C (p.Tyr1502His) n.4947T>C n.4693T>C n.4542+13842T>C | |
2 | g.227008206A>T | CA351140826 | COL4A4 | c.223T>A (p.Tyr75Asn) c.4621T>A (p.Tyr1541Asn) c.4066T>A (p.Tyr1356Asn) c.4432T>A (p.Tyr1478Asn) c.4216+13842T>A (n.4216+13842T>A) c.4540T>A (p.Tyr1514Asn) c.4513T>A (p.Tyr1505Asn) c.4367T>A (p.Leu1456Gln) c.4250T>A (p.Leu1417Gln) c.2947T>A (p.Tyr983Asn) n.4931T>A n.4526+13842T>A c.4504T>A (p.Tyr1502Asn) n.4947T>A n.4693T>A n.4542+13842T>A | |
2 | g.227008207G>A | CA431671963 | COL4A4 | c.222C>T (p.Ser74=) c.4620C>T (p.Ser1540=) c.4065C>T (p.Ser1355=) c.4431C>T (p.Ser1477=) c.4216+13841C>T (n.4216+13841C>T) c.4539C>T (p.Ser1513=) c.4512C>T (p.Ser1504=) c.4366C>T (p.Leu1456=) c.4249C>T (p.Leu1417=) c.2946C>T (p.Ser982=) n.4930C>T n.4526+13841C>T c.4503C>T (p.Ser1501=) n.4946C>T n.4692C>T n.4542+13841C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008207G>C | CA431671964 | COL4A4 | c.222C>G (p.Ser74=) c.4620C>G (p.Ser1540=) c.4065C>G (p.Ser1355=) c.4431C>G (p.Ser1477=) c.4216+13841C>G (n.4216+13841C>G) c.4539C>G (p.Ser1513=) c.4512C>G (p.Ser1504=) c.4366C>G (p.Leu1456Val) c.4249C>G (p.Leu1417Val) c.2946C>G (p.Ser982=) n.4930C>G n.4526+13841C>G c.4503C>G (p.Ser1501=) n.4946C>G n.4692C>G n.4542+13841C>G | |
2 | g.227008207G= | CA1332723962 | COL4A4 | c.222C= (p.Ser74=) c.4620C= (p.Ser1540=) c.4065C= (p.Ser1355=) c.4431C= (p.Ser1477=) c.4216+13841C= (n.4216+13841C=) c.4539C= (p.Ser1513=) c.4512C= (p.Ser1504=) c.4366C= (p.Leu1456=) c.4249C= (p.Leu1417=) c.2946C= (p.Ser982=) n.4930C= n.4526+13841C= c.4503C= (p.Ser1501=) n.4946C= n.4692C= n.4542+13841C= | |
2 | g.227008207G>T | CA431671965 | COL4A4 | c.222C>A (p.Ser74=) c.4620C>A (p.Ser1540=) c.4065C>A (p.Ser1355=) c.4431C>A (p.Ser1477=) c.4216+13841C>A (n.4216+13841C>A) c.4539C>A (p.Ser1513=) c.4512C>A (p.Ser1504=) c.4366C>A (p.Leu1456Ile) c.4249C>A (p.Leu1417Ile) c.2946C>A (p.Ser982=) n.4930C>A n.4526+13841C>A c.4503C>A (p.Ser1501=) n.4946C>A n.4692C>A n.4542+13841C>A | |
2 | g.227008208G>A | CA351140829 | COL4A4 | c.221C>T (p.Ser74Phe) c.4619C>T (p.Ser1540Phe) c.4064C>T (p.Ser1355Phe) c.4430C>T (p.Ser1477Phe) c.4216+13840C>T (n.4216+13840C>T) c.4538C>T (p.Ser1513Phe) c.4511C>T (p.Ser1504Phe) c.4365C>T (p.Ile1455=) c.4248C>T (p.Ile1416=) c.2945C>T (p.Ser982Phe) n.4929C>T n.4526+13840C>T c.4502C>T (p.Ser1501Phe) n.4945C>T n.4691C>T n.4542+13840C>T | |
2 | g.227008208G>C | CA351140830 | COL4A4 | c.221C>G (p.Ser74Cys) c.4619C>G (p.Ser1540Cys) c.4064C>G (p.Ser1355Cys) c.4430C>G (p.Ser1477Cys) c.4216+13840C>G (n.4216+13840C>G) c.4538C>G (p.Ser1513Cys) c.4511C>G (p.Ser1504Cys) c.4365C>G (p.Ile1455Met) c.4248C>G (p.Ile1416Met) c.2945C>G (p.Ser982Cys) n.4929C>G n.4526+13840C>G c.4502C>G (p.Ser1501Cys) n.4945C>G n.4691C>G n.4542+13840C>G | |
2 | g.227008208G>T | CA351140831 | COL4A4 | c.221C>A (p.Ser74Tyr) c.4619C>A (p.Ser1540Tyr) c.4064C>A (p.Ser1355Tyr) c.4430C>A (p.Ser1477Tyr) c.4216+13840C>A (n.4216+13840C>A) c.4538C>A (p.Ser1513Tyr) c.4511C>A (p.Ser1504Tyr) c.4365C>A (p.Ile1455=) c.4248C>A (p.Ile1416=) c.2945C>A (p.Ser982Tyr) n.4929C>A n.4526+13840C>A c.4502C>A (p.Ser1501Tyr) n.4945C>A n.4691C>A n.4542+13840C>A | |
2 | g.227008209A>C | CA351140832 | COL4A4 | c.220T>G (p.Ser74Ala) c.4618T>G (p.Ser1540Ala) c.4063T>G (p.Ser1355Ala) c.4429T>G (p.Ser1477Ala) c.4216+13839T>G (n.4216+13839T>G) c.4537T>G (p.Ser1513Ala) c.4510T>G (p.Ser1504Ala) c.4364T>G (p.Ile1455Ser) c.4247T>G (p.Ile1416Ser) c.2944T>G (p.Ser982Ala) n.4928T>G n.4526+13839T>G c.4501T>G (p.Ser1501Ala) n.4944T>G n.4690T>G n.4542+13839T>G | |
2 | g.227008209A>G | CA351140833 | COL4A4 | c.220T>C (p.Ser74Pro) c.4618T>C (p.Ser1540Pro) c.4063T>C (p.Ser1355Pro) c.4429T>C (p.Ser1477Pro) c.4216+13839T>C (n.4216+13839T>C) c.4537T>C (p.Ser1513Pro) c.4510T>C (p.Ser1504Pro) c.4364T>C (p.Ile1455Thr) c.4247T>C (p.Ile1416Thr) c.2944T>C (p.Ser982Pro) n.4928T>C n.4526+13839T>C c.4501T>C (p.Ser1501Pro) n.4944T>C n.4690T>C n.4542+13839T>C | |
2 | g.227008209A>T | CA351140834 | COL4A4 | c.220T>A (p.Ser74Thr) c.4618T>A (p.Ser1540Thr) c.4063T>A (p.Ser1355Thr) c.4429T>A (p.Ser1477Thr) c.4216+13839T>A (n.4216+13839T>A) c.4537T>A (p.Ser1513Thr) c.4510T>A (p.Ser1504Thr) c.4364T>A (p.Ile1455Asn) c.4247T>A (p.Ile1416Asn) c.2944T>A (p.Ser982Thr) n.4928T>A n.4526+13839T>A c.4501T>A (p.Ser1501Thr) n.4944T>A n.4690T>A n.4542+13839T>A | |
2 | g.227008210T>A | CA351140835 | COL4A4 | c.219A>T (p.Arg73Ser) c.4617A>T (p.Arg1539Ser) c.4062A>T (p.Arg1354Ser) c.4428A>T (p.Arg1476Ser) c.4216+13838A>T (n.4216+13838A>T) c.4536A>T (p.Arg1512Ser) c.4509A>T (p.Arg1503Ser) c.4363A>T (p.Ile1455Phe) c.4246A>T (p.Ile1416Phe) c.2943A>T (p.Arg981Ser) n.4927A>T n.4526+13838A>T c.4500A>T (p.Arg1500Ser) n.4943A>T n.4689A>T n.4542+13838A>T | |
2 | g.227008210T>C | CA431671969 | COL4A4 | c.219A>G (p.Arg73=) c.4617A>G (p.Arg1539=) c.4062A>G (p.Arg1354=) c.4428A>G (p.Arg1476=) c.4216+13838A>G (n.4216+13838A>G) c.4536A>G (p.Arg1512=) c.4509A>G (p.Arg1503=) c.4363A>G (p.Ile1455Val) c.4246A>G (p.Ile1416Val) c.2943A>G (p.Arg981=) n.4927A>G n.4526+13838A>G c.4500A>G (p.Arg1500=) n.4943A>G n.4689A>G n.4542+13838A>G | COSMIC |
2 | g.227008210T>G | CA351140836 | COL4A4 | c.219A>C (p.Arg73Ser) c.4617A>C (p.Arg1539Ser) c.4062A>C (p.Arg1354Ser) c.4428A>C (p.Arg1476Ser) c.4216+13838A>C (n.4216+13838A>C) c.4536A>C (p.Arg1512Ser) c.4509A>C (p.Arg1503Ser) c.4363A>C (p.Ile1455Leu) c.4246A>C (p.Ile1416Leu) c.2943A>C (p.Arg981Ser) n.4927A>C n.4526+13838A>C c.4500A>C (p.Arg1500Ser) n.4943A>C n.4689A>C n.4542+13838A>C | |
2 | g.227008211C>A | CA351140837 | COL4A4 | c.218G>T (p.Arg73Ile) c.4616G>T (p.Arg1539Ile) c.4061G>T (p.Arg1354Ile) c.4427G>T (p.Arg1476Ile) c.4216+13837G>T (n.4216+13837G>T) c.4535G>T (p.Arg1512Ile) c.4508G>T (p.Arg1503Ile) c.4362G>T (p.Gln1454His) c.4245G>T (p.Gln1415His) c.2942G>T (p.Arg981Ile) n.4926G>T n.4526+13837G>T c.4499G>T (p.Arg1500Ile) n.4942G>T n.4688G>T n.4542+13837G>T | gnomAD v4 |
2 | g.227008211C= | CA1332723963 | COL4A4 | c.218G= (p.Arg73=) c.4616G= (p.Arg1539=) c.4061G= (p.Arg1354=) c.4427G= (p.Arg1476=) c.4216+13837G= (n.4216+13837G=) c.4535G= (p.Arg1512=) c.4508G= (p.Arg1503=) c.4362G= (p.Gln1454=) c.4245G= (p.Gln1415=) c.2942G= (p.Arg981=) n.4926G= n.4526+13837G= c.4499G= (p.Arg1500=) n.4942G= n.4688G= n.4542+13837G= | |
2 | g.227008211C>G | CA351140838 | COL4A4 | c.218G>C (p.Arg73Thr) c.4616G>C (p.Arg1539Thr) c.4061G>C (p.Arg1354Thr) c.4427G>C (p.Arg1476Thr) c.4216+13837G>C (n.4216+13837G>C) c.4535G>C (p.Arg1512Thr) c.4508G>C (p.Arg1503Thr) c.4362G>C (p.Gln1454His) c.4245G>C (p.Gln1415His) c.2942G>C (p.Arg981Thr) n.4926G>C n.4526+13837G>C c.4499G>C (p.Arg1500Thr) n.4942G>C n.4688G>C n.4542+13837G>C | |
2 | g.227008211C>T | CA351140839 | COL4A4 | c.218G>A (p.Arg73Lys) c.4616G>A (p.Arg1539Lys) c.4061G>A (p.Arg1354Lys) c.4427G>A (p.Arg1476Lys) c.4216+13837G>A (n.4216+13837G>A) c.4535G>A (p.Arg1512Lys) c.4508G>A (p.Arg1503Lys) c.4362G>A (p.Gln1454=) c.4245G>A (p.Gln1415=) c.2942G>A (p.Arg981Lys) n.4926G>A n.4526+13837G>A c.4499G>A (p.Arg1500Lys) n.4942G>A n.4688G>A n.4542+13837G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008212T>A | CA351140840 | COL4A4 | c.217A>T (p.Arg73Ter) c.4615A>T (p.Arg1539Ter) c.4060A>T (p.Arg1354Ter) c.4426A>T (p.Arg1476Ter) c.4216+13836A>T (n.4216+13836A>T) c.4534A>T (p.Arg1512Ter) c.4507A>T (p.Arg1503Ter) c.4361A>T (p.Gln1454Leu) c.4244A>T (p.Gln1415Leu) c.2941A>T (p.Arg981Ter) n.4925A>T n.4526+13836A>T c.4498A>T (p.Arg1500Ter) n.4941A>T n.4687A>T n.4542+13836A>T | |
2 | g.227008212T>C | CA351140841 | COL4A4 | c.217A>G (p.Arg73Gly) c.4615A>G (p.Arg1539Gly) c.4060A>G (p.Arg1354Gly) c.4426A>G (p.Arg1476Gly) c.4216+13836A>G (n.4216+13836A>G) c.4534A>G (p.Arg1512Gly) c.4507A>G (p.Arg1503Gly) c.4361A>G (p.Gln1454Arg) c.4244A>G (p.Gln1415Arg) c.2941A>G (p.Arg981Gly) n.4925A>G n.4526+13836A>G c.4498A>G (p.Arg1500Gly) n.4941A>G n.4687A>G n.4542+13836A>G | |
2 | g.227008212T>G | CA431671973 | COL4A4 | c.217A>C (p.Arg73=) c.4615A>C (p.Arg1539=) c.4060A>C (p.Arg1354=) c.4426A>C (p.Arg1476=) c.4216+13836A>C (n.4216+13836A>C) c.4534A>C (p.Arg1512=) c.4507A>C (p.Arg1503=) c.4361A>C (p.Gln1454Pro) c.4244A>C (p.Gln1415Pro) c.2941A>C (p.Arg981=) n.4925A>C n.4526+13836A>C c.4498A>C (p.Arg1500=) n.4941A>C n.4687A>C n.4542+13836A>C | |
2 | g.227008213G>A | CA431671974 | COL4A4 | c.216C>T (p.Asp72=) c.4614C>T (p.Asp1538=) c.4059C>T (p.Asp1353=) c.4425C>T (p.Asp1475=) c.4216+13835C>T (n.4216+13835C>T) c.4533C>T (p.Asp1511=) c.4506C>T (p.Asp1502=) c.4360C>T (p.Gln1454Ter) c.4243C>T (p.Gln1415Ter) c.2940C>T (p.Asp980=) n.4924C>T n.4526+13835C>T c.4497C>T (p.Asp1499=) n.4940C>T n.4686C>T n.4542+13835C>T | |
2 | g.227008213G>C | CA351140842 | COL4A4 | c.216C>G (p.Asp72Glu) c.4614C>G (p.Asp1538Glu) c.4059C>G (p.Asp1353Glu) c.4425C>G (p.Asp1475Glu) c.4216+13835C>G (n.4216+13835C>G) c.4533C>G (p.Asp1511Glu) c.4506C>G (p.Asp1502Glu) c.4360C>G (p.Gln1454Glu) c.4243C>G (p.Gln1415Glu) c.2940C>G (p.Asp980Glu) n.4924C>G n.4526+13835C>G c.4497C>G (p.Asp1499Glu) n.4940C>G n.4686C>G n.4542+13835C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008213G= | CA1332723964 | COL4A4 | c.216C= (p.Asp72=) c.4614C= (p.Asp1538=) c.4059C= (p.Asp1353=) c.4425C= (p.Asp1475=) c.4216+13835C= (n.4216+13835C=) c.4533C= (p.Asp1511=) c.4506C= (p.Asp1502=) c.4360C= (p.Gln1454=) c.4243C= (p.Gln1415=) c.2940C= (p.Asp980=) n.4924C= n.4526+13835C= c.4497C= (p.Asp1499=) n.4940C= n.4686C= n.4542+13835C= | |
2 | g.227008213G>T | CA351140843 | COL4A4 | c.216C>A (p.Asp72Glu) c.4614C>A (p.Asp1538Glu) c.4059C>A (p.Asp1353Glu) c.4425C>A (p.Asp1475Glu) c.4216+13835C>A (n.4216+13835C>A) c.4533C>A (p.Asp1511Glu) c.4506C>A (p.Asp1502Glu) c.4360C>A (p.Gln1454Lys) c.4243C>A (p.Gln1415Lys) c.2940C>A (p.Asp980Glu) n.4924C>A n.4526+13835C>A c.4497C>A (p.Asp1499Glu) n.4940C>A n.4686C>A n.4542+13835C>A | |
2 | g.227008214T>A | CA351140844 | COL4A4 | c.215A>T (p.Asp72Val) c.4613A>T (p.Asp1538Val) c.4058A>T (p.Asp1353Val) c.4424A>T (p.Asp1475Val) c.4216+13834A>T (n.4216+13834A>T) c.4532A>T (p.Asp1511Val) c.4505A>T (p.Asp1502Val) c.4359A>T (p.Arg1453=) c.4242A>T (p.Arg1414=) c.2939A>T (p.Asp980Val) n.4923A>T n.4526+13834A>T c.4496A>T (p.Asp1499Val) n.4939A>T n.4685A>T n.4542+13834A>T | |
2 | g.227008214T>C | CA351140845 | COL4A4 | c.215A>G (p.Asp72Gly) c.4613A>G (p.Asp1538Gly) c.4058A>G (p.Asp1353Gly) c.4424A>G (p.Asp1475Gly) c.4216+13834A>G (n.4216+13834A>G) c.4532A>G (p.Asp1511Gly) c.4505A>G (p.Asp1502Gly) c.4359A>G (p.Arg1453=) c.4242A>G (p.Arg1414=) c.2939A>G (p.Asp980Gly) n.4923A>G n.4526+13834A>G c.4496A>G (p.Asp1499Gly) n.4939A>G n.4685A>G n.4542+13834A>G | |
2 | g.227008214T>G | CA351140846 | COL4A4 | c.215A>C (p.Asp72Ala) c.4613A>C (p.Asp1538Ala) c.4058A>C (p.Asp1353Ala) c.4424A>C (p.Asp1475Ala) c.4216+13834A>C (n.4216+13834A>C) c.4532A>C (p.Asp1511Ala) c.4505A>C (p.Asp1502Ala) c.4359A>C (p.Arg1453=) c.4242A>C (p.Arg1414=) c.2939A>C (p.Asp980Ala) n.4923A>C n.4526+13834A>C c.4496A>C (p.Asp1499Ala) n.4939A>C n.4685A>C n.4542+13834A>C | |
2 | g.227008215C>A | CA351140847 | COL4A4 | c.214G>T (p.Asp72Tyr) c.4612G>T (p.Asp1538Tyr) c.4057G>T (p.Asp1353Tyr) c.4423G>T (p.Asp1475Tyr) c.4216+13833G>T (n.4216+13833G>T) c.4531G>T (p.Asp1511Tyr) c.4504G>T (p.Asp1502Tyr) c.4358G>T (p.Arg1453Leu) c.4241G>T (p.Arg1414Leu) c.2938G>T (p.Asp980Tyr) n.4922G>T n.4526+13833G>T c.4495G>T (p.Asp1499Tyr) n.4938G>T n.4684G>T n.4542+13833G>T | |
2 | g.227008215C= | CA1332723965 | COL4A4 | c.214G= (p.Asp72=) c.4612G= (p.Asp1538=) c.4057G= (p.Asp1353=) c.4423G= (p.Asp1475=) c.4216+13833G= (n.4216+13833G=) c.4531G= (p.Asp1511=) c.4504G= (p.Asp1502=) c.4358G= (p.Arg1453=) c.4241G= (p.Arg1414=) c.2938G= (p.Asp980=) n.4922G= n.4526+13833G= c.4495G= (p.Asp1499=) n.4938G= n.4684G= n.4542+13833G= | |
2 | g.227008215C>G | CA351140848 | COL4A4 | c.214G>C (p.Asp72His) c.4612G>C (p.Asp1538His) c.4057G>C (p.Asp1353His) c.4423G>C (p.Asp1475His) c.4216+13833G>C (n.4216+13833G>C) c.4531G>C (p.Asp1511His) c.4504G>C (p.Asp1502His) c.4358G>C (p.Arg1453Pro) c.4241G>C (p.Arg1414Pro) c.2938G>C (p.Asp980His) n.4922G>C n.4526+13833G>C c.4495G>C (p.Asp1499His) n.4938G>C n.4684G>C n.4542+13833G>C | |
2 | g.227008215C>T | CA2144115 | COL4A4 | c.214G>A (p.Asp72Asn) c.4612G>A (p.Asp1538Asn) c.4057G>A (p.Asp1353Asn) c.4423G>A (p.Asp1475Asn) c.4216+13833G>A (n.4216+13833G>A) c.4531G>A (p.Asp1511Asn) c.4504G>A (p.Asp1502Asn) c.4358G>A (p.Arg1453Gln) c.4241G>A (p.Arg1414Gln) c.2938G>A (p.Asp980Asn) n.4922G>A n.4526+13833G>A c.4495G>A (p.Asp1499Asn) n.4938G>A n.4684G>A n.4542+13833G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008216G>A | CA431671978 | COL4A4 | c.213C>T (p.Asn71=) c.4611C>T (p.Asn1537=) c.4056C>T (p.Asn1352=) c.4422C>T (p.Asn1474=) c.4216+13832C>T (n.4216+13832C>T) c.4530C>T (p.Asn1510=) c.4503C>T (p.Asn1501=) c.4357C>T (p.Arg1453Ter) c.4240C>T (p.Arg1414Ter) c.2937C>T (p.Asn979=) n.4921C>T n.4526+13832C>T c.4494C>T (p.Asn1498=) n.4937C>T n.4683C>T n.4542+13832C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008216G>C | CA351140849 | COL4A4 | c.213C>G (p.Asn71Lys) c.4611C>G (p.Asn1537Lys) c.4056C>G (p.Asn1352Lys) c.4422C>G (p.Asn1474Lys) c.4216+13832C>G (n.4216+13832C>G) c.4530C>G (p.Asn1510Lys) c.4503C>G (p.Asn1501Lys) c.4357C>G (p.Arg1453Gly) c.4240C>G (p.Arg1414Gly) c.2937C>G (p.Asn979Lys) n.4921C>G n.4526+13832C>G c.4494C>G (p.Asn1498Lys) n.4937C>G n.4683C>G n.4542+13832C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008216G= | CA1332723966 | COL4A4 | c.213C= (p.Asn71=) c.4611C= (p.Asn1537=) c.4056C= (p.Asn1352=) c.4422C= (p.Asn1474=) c.4216+13832C= (n.4216+13832C=) c.4530C= (p.Asn1510=) c.4503C= (p.Asn1501=) c.4357C= (p.Arg1453=) c.4240C= (p.Arg1414=) c.2937C= (p.Asn979=) n.4921C= n.4526+13832C= c.4494C= (p.Asn1498=) n.4937C= n.4683C= n.4542+13832C= | |
2 | g.227008216G>T | CA351140850 | COL4A4 | c.213C>A (p.Asn71Lys) c.4611C>A (p.Asn1537Lys) c.4056C>A (p.Asn1352Lys) c.4422C>A (p.Asn1474Lys) c.4216+13832C>A (n.4216+13832C>A) c.4530C>A (p.Asn1510Lys) c.4503C>A (p.Asn1501Lys) c.4357C>A (p.Arg1453=) c.4240C>A (p.Arg1414=) c.2937C>A (p.Asn979Lys) n.4921C>A n.4526+13832C>A c.4494C>A (p.Asn1498Lys) n.4937C>A n.4683C>A n.4542+13832C>A | |
2 | g.227008217T>A | CA351140851 | COL4A4 | c.212A>T (p.Asn71Ile) c.4610A>T (p.Asn1537Ile) c.4055A>T (p.Asn1352Ile) c.4421A>T (p.Asn1474Ile) c.4216+13831A>T (n.4216+13831A>T) c.4529A>T (p.Asn1510Ile) c.4502A>T (p.Asn1501Ile) c.4356A>T (p.Lys1452Asn) c.4239A>T (p.Lys1413Asn) c.2936A>T (p.Asn979Ile) n.4920A>T n.4526+13831A>T c.4493A>T (p.Asn1498Ile) n.4936A>T n.4682A>T n.4542+13831A>T | |
2 | g.227008217T>C | CA351140852 | COL4A4 | c.212A>G (p.Asn71Ser) c.4610A>G (p.Asn1537Ser) c.4055A>G (p.Asn1352Ser) c.4421A>G (p.Asn1474Ser) c.4216+13831A>G (n.4216+13831A>G) c.4529A>G (p.Asn1510Ser) c.4502A>G (p.Asn1501Ser) c.4356A>G (p.Lys1452=) c.4239A>G (p.Lys1413=) c.2936A>G (p.Asn979Ser) n.4920A>G n.4526+13831A>G c.4493A>G (p.Asn1498Ser) n.4936A>G n.4682A>G n.4542+13831A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008217T>G | CA351140853 | COL4A4 | c.212A>C (p.Asn71Thr) c.4610A>C (p.Asn1537Thr) c.4055A>C (p.Asn1352Thr) c.4421A>C (p.Asn1474Thr) c.4216+13831A>C (n.4216+13831A>C) c.4529A>C (p.Asn1510Thr) c.4502A>C (p.Asn1501Thr) c.4356A>C (p.Lys1452Asn) c.4239A>C (p.Lys1413Asn) c.2936A>C (p.Asn979Thr) n.4920A>C n.4526+13831A>C c.4493A>C (p.Asn1498Thr) n.4936A>C n.4682A>C n.4542+13831A>C | |
2 | g.227008217T= | CA1332723967 | COL4A4 | c.212A= (p.Asn71=) c.4610A= (p.Asn1537=) c.4055A= (p.Asn1352=) c.4421A= (p.Asn1474=) c.4216+13831A= (n.4216+13831A=) c.4529A= (p.Asn1510=) c.4502A= (p.Asn1501=) c.4356A= (p.Lys1452=) c.4239A= (p.Lys1413=) c.2936A= (p.Asn979=) n.4920A= n.4526+13831A= c.4493A= (p.Asn1498=) n.4936A= n.4682A= n.4542+13831A= | |
2 | g.227008219dup | CA916790153 | COL4A4 | c.212dup (p.Asn71LysfsTer20) c.4610dup (p.Asn1537LysfsTer20) c.4055dup (p.Asn1352LysfsTer20) c.4421dup (p.Asn1474LysfsTer20) c.4216+13831dup (n.4216+13831dup) c.4529dup (p.Asn1510LysfsTer20) c.4502dup (p.Asn1501LysfsTer20) c.4356dup (p.Arg1453ThrfsTer15) c.4239dup (p.Arg1414ThrfsTer15) c.2936dup (p.Asn979LysfsTer20) n.4920dup n.4526+13831dup c.4493dup (p.Asn1498LysfsTer20) n.4936dup n.4682dup n.4542+13831dup | dbSNP |
2 | g.227008218T>A | CA351140854 | COL4A4 | c.211A>T (p.Asn71Tyr) c.4609A>T (p.Asn1537Tyr) c.4054A>T (p.Asn1352Tyr) c.4420A>T (p.Asn1474Tyr) c.4216+13830A>T (n.4216+13830A>T) c.4528A>T (p.Asn1510Tyr) c.4501A>T (p.Asn1501Tyr) c.4355A>T (p.Lys1452Ile) c.4238A>T (p.Lys1413Ile) c.2935A>T (p.Asn979Tyr) n.4919A>T n.4526+13830A>T c.4492A>T (p.Asn1498Tyr) n.4935A>T n.4681A>T n.4542+13830A>T | |
2 | g.227008218T>C | CA351140855 | COL4A4 | c.211A>G (p.Asn71Asp) c.4609A>G (p.Asn1537Asp) c.4054A>G (p.Asn1352Asp) c.4420A>G (p.Asn1474Asp) c.4216+13830A>G (n.4216+13830A>G) c.4528A>G (p.Asn1510Asp) c.4501A>G (p.Asn1501Asp) c.4355A>G (p.Lys1452Arg) c.4238A>G (p.Lys1413Arg) c.2935A>G (p.Asn979Asp) n.4919A>G n.4526+13830A>G c.4492A>G (p.Asn1498Asp) n.4935A>G n.4681A>G n.4542+13830A>G | |
2 | g.227008218T>G | CA351140856 | COL4A4 | c.211A>C (p.Asn71His) c.4609A>C (p.Asn1537His) c.4054A>C (p.Asn1352His) c.4420A>C (p.Asn1474His) c.4216+13830A>C (n.4216+13830A>C) c.4528A>C (p.Asn1510His) c.4501A>C (p.Asn1501His) c.4355A>C (p.Lys1452Thr) c.4238A>C (p.Lys1413Thr) c.2935A>C (p.Asn979His) n.4919A>C n.4526+13830A>C c.4492A>C (p.Asn1498His) n.4935A>C n.4681A>C n.4542+13830A>C | |
2 | g.227008219T>A | CA351140857 | COL4A4 | c.210A>T (p.Arg70Ser) c.4608A>T (p.Arg1536Ser) c.4053A>T (p.Arg1351Ser) c.4419A>T (p.Arg1473Ser) c.4216+13829A>T (n.4216+13829A>T) c.4527A>T (p.Arg1509Ser) c.4500A>T (p.Arg1500Ser) c.4354A>T (p.Lys1452Ter) c.4237A>T (p.Lys1413Ter) c.2934A>T (p.Arg978Ser) n.4918A>T n.4526+13829A>T c.4491A>T (p.Arg1497Ser) n.4934A>T n.4680A>T n.4542+13829A>T | |
2 | g.227008219T>C | CA431671980 | COL4A4 | c.210A>G (p.Arg70=) c.4608A>G (p.Arg1536=) c.4053A>G (p.Arg1351=) c.4419A>G (p.Arg1473=) c.4216+13829A>G (n.4216+13829A>G) c.4527A>G (p.Arg1509=) c.4500A>G (p.Arg1500=) c.4354A>G (p.Lys1452Glu) c.4237A>G (p.Lys1413Glu) c.2934A>G (p.Arg978=) n.4918A>G n.4526+13829A>G c.4491A>G (p.Arg1497=) n.4934A>G n.4680A>G n.4542+13829A>G | ClinVar dbSNP gnomAD v2 |
2 | g.227008219T>G | CA351140858 | COL4A4 | c.210A>C (p.Arg70Ser) c.4608A>C (p.Arg1536Ser) c.4053A>C (p.Arg1351Ser) c.4419A>C (p.Arg1473Ser) c.4216+13829A>C (n.4216+13829A>C) c.4527A>C (p.Arg1509Ser) c.4500A>C (p.Arg1500Ser) c.4354A>C (p.Lys1452Gln) c.4237A>C (p.Lys1413Gln) c.2934A>C (p.Arg978Ser) n.4918A>C n.4526+13829A>C c.4491A>C (p.Arg1497Ser) n.4934A>C n.4680A>C n.4542+13829A>C | |
2 | g.227008219T= | CA1332723968 | COL4A4 | c.210A= (p.Arg70=) c.4608A= (p.Arg1536=) c.4053A= (p.Arg1351=) c.4419A= (p.Arg1473=) c.4216+13829A= (n.4216+13829A=) c.4527A= (p.Arg1509=) c.4500A= (p.Arg1500=) c.4354A= (p.Lys1452=) c.4237A= (p.Lys1413=) c.2934A= (p.Arg978=) n.4918A= n.4526+13829A= c.4491A= (p.Arg1497=) n.4934A= n.4680A= n.4542+13829A= | |
2 | g.227008220C>A | CA67238301 | COL4A4 | c.209G>T (p.Arg70Ile) c.4607G>T (p.Arg1536Ile) c.4052G>T (p.Arg1351Ile) c.4418G>T (p.Arg1473Ile) c.4216+13828G>T (n.4216+13828G>T) c.4526G>T (p.Arg1509Ile) c.4499G>T (p.Arg1500Ile) c.4353G>T (p.Glu1451Asp) c.4236G>T (p.Glu1412Asp) c.2933G>T (p.Arg978Ile) n.4917G>T n.4526+13828G>T c.4490G>T (p.Arg1497Ile) n.4933G>T n.4679G>T n.4542+13828G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008220C= | CA1332723969 | COL4A4 | c.209G= (p.Arg70=) c.4607G= (p.Arg1536=) c.4052G= (p.Arg1351=) c.4418G= (p.Arg1473=) c.4216+13828G= (n.4216+13828G=) c.4526G= (p.Arg1509=) c.4499G= (p.Arg1500=) c.4353G= (p.Glu1451=) c.4236G= (p.Glu1412=) c.2933G= (p.Arg978=) n.4917G= n.4526+13828G= c.4490G= (p.Arg1497=) n.4933G= n.4679G= n.4542+13828G= | |
2 | g.227008220C>G | CA351140859 | COL4A4 | c.209G>C (p.Arg70Thr) c.4607G>C (p.Arg1536Thr) c.4052G>C (p.Arg1351Thr) c.4418G>C (p.Arg1473Thr) c.4216+13828G>C (n.4216+13828G>C) c.4526G>C (p.Arg1509Thr) c.4499G>C (p.Arg1500Thr) c.4353G>C (p.Glu1451Asp) c.4236G>C (p.Glu1412Asp) c.2933G>C (p.Arg978Thr) n.4917G>C n.4526+13828G>C c.4490G>C (p.Arg1497Thr) n.4933G>C n.4679G>C n.4542+13828G>C | |
2 | g.227008220C>T | CA351140860 | COL4A4 | c.209G>A (p.Arg70Lys) c.4607G>A (p.Arg1536Lys) c.4052G>A (p.Arg1351Lys) c.4418G>A (p.Arg1473Lys) c.4216+13828G>A (n.4216+13828G>A) c.4526G>A (p.Arg1509Lys) c.4499G>A (p.Arg1500Lys) c.4353G>A (p.Glu1451=) c.4236G>A (p.Glu1412=) c.2933G>A (p.Arg978Lys) n.4917G>A n.4526+13828G>A c.4490G>A (p.Arg1497Lys) n.4933G>A n.4679G>A n.4542+13828G>A | |
2 | g.227008221T>A | CA351140861 | COL4A4 | c.208A>T (p.Arg70Ter) c.4606A>T (p.Arg1536Ter) c.4051A>T (p.Arg1351Ter) c.4417A>T (p.Arg1473Ter) c.4216+13827A>T (n.4216+13827A>T) c.4525A>T (p.Arg1509Ter) c.4498A>T (p.Arg1500Ter) c.4352A>T (p.Glu1451Val) c.4235A>T (p.Glu1412Val) c.2932A>T (p.Arg978Ter) n.4916A>T n.4526+13827A>T c.4489A>T (p.Arg1497Ter) n.4932A>T n.4678A>T n.4542+13827A>T | |
2 | g.227008221T>C | CA351140862 | COL4A4 | c.208A>G (p.Arg70Gly) c.4606A>G (p.Arg1536Gly) c.4051A>G (p.Arg1351Gly) c.4417A>G (p.Arg1473Gly) c.4216+13827A>G (n.4216+13827A>G) c.4525A>G (p.Arg1509Gly) c.4498A>G (p.Arg1500Gly) c.4352A>G (p.Glu1451Gly) c.4235A>G (p.Glu1412Gly) c.2932A>G (p.Arg978Gly) n.4916A>G n.4526+13827A>G c.4489A>G (p.Arg1497Gly) n.4932A>G n.4678A>G n.4542+13827A>G | |
2 | g.227008221T>G | CA431671981 | COL4A4 | c.208A>C (p.Arg70=) c.4606A>C (p.Arg1536=) c.4051A>C (p.Arg1351=) c.4417A>C (p.Arg1473=) c.4216+13827A>C (n.4216+13827A>C) c.4525A>C (p.Arg1509=) c.4498A>C (p.Arg1500=) c.4352A>C (p.Glu1451Ala) c.4235A>C (p.Glu1412Ala) c.2932A>C (p.Arg978=) n.4916A>C n.4526+13827A>C c.4489A>C (p.Arg1497=) n.4932A>C n.4678A>C n.4542+13827A>C | |
2 | g.227008222C>A | CA351140863 | COL4A4 | c.207G>T (p.Gln69His) c.4605G>T (p.Gln1535His) c.4050G>T (p.Gln1350His) c.4416G>T (p.Gln1472His) c.4216+13826G>T (n.4216+13826G>T) c.4524G>T (p.Gln1508His) c.4497G>T (p.Gln1499His) c.4351G>T (p.Glu1451Ter) c.4234G>T (p.Glu1412Ter) c.2931G>T (p.Gln977His) n.4915G>T n.4526+13826G>T c.4488G>T (p.Gln1496His) n.4931G>T n.4677G>T n.4542+13826G>T | |
2 | g.227008222C>G | CA351140864 | COL4A4 | c.207G>C (p.Gln69His) c.4605G>C (p.Gln1535His) c.4050G>C (p.Gln1350His) c.4416G>C (p.Gln1472His) c.4216+13826G>C (n.4216+13826G>C) c.4524G>C (p.Gln1508His) c.4497G>C (p.Gln1499His) c.4351G>C (p.Glu1451Gln) c.4234G>C (p.Glu1412Gln) c.2931G>C (p.Gln977His) n.4915G>C n.4526+13826G>C c.4488G>C (p.Gln1496His) n.4931G>C n.4677G>C n.4542+13826G>C | |
2 | g.227008222C>T | CA431671982 | COL4A4 | c.207G>A (p.Gln69=) c.4605G>A (p.Gln1535=) c.4050G>A (p.Gln1350=) c.4416G>A (p.Gln1472=) c.4216+13826G>A (n.4216+13826G>A) c.4524G>A (p.Gln1508=) c.4497G>A (p.Gln1499=) c.4351G>A (p.Glu1451Lys) c.4234G>A (p.Glu1412Lys) c.2931G>A (p.Gln977=) n.4915G>A n.4526+13826G>A c.4488G>A (p.Gln1496=) n.4931G>A n.4677G>A n.4542+13826G>A | |
2 | g.227008222_227008224delinsCTG | CA1332723970 | COL4A4 | c.205_207delinsCAG (p.Gln69=) c.4603_4605delinsCAG (p.Gln1535=) c.4048_4050delinsCAG (p.Gln1350=) c.4414_4416delinsCAG (p.Gln1472=) c.4216+13824_4216+13826delinsCAG (n.4216+13824_4216+13826delinsCAG) c.4522_4524delinsCAG (p.Gln1508=) c.4495_4497delinsCAG (p.Gln1499=) c.4349_4351delinsCAG (p.Pro1450=) c.4232_4234delinsCAG (p.Pro1411=) c.2929_2931delinsCAG (p.Gln977=) n.4913_4915delinsCAG n.4526+13824_4526+13826delinsCAG c.4486_4488delinsCAG (p.Gln1496=) n.4929_4931delinsCAG n.4675_4677delinsCAG n.4542+13824_4542+13826delinsCAG | |
2 | g.227008223T>A | CA351140865 | COL4A4 | c.206A>T (p.Gln69Leu) c.4604A>T (p.Gln1535Leu) c.4049A>T (p.Gln1350Leu) c.4415A>T (p.Gln1472Leu) c.4216+13825A>T (n.4216+13825A>T) c.4523A>T (p.Gln1508Leu) c.4496A>T (p.Gln1499Leu) c.4350A>T (p.Pro1450=) c.4233A>T (p.Pro1411=) c.2930A>T (p.Gln977Leu) n.4914A>T n.4526+13825A>T c.4487A>T (p.Gln1496Leu) n.4930A>T n.4676A>T n.4542+13825A>T | |
2 | g.227008223T>C | CA351140866 | COL4A4 | c.206A>G (p.Gln69Arg) c.4604A>G (p.Gln1535Arg) c.4049A>G (p.Gln1350Arg) c.4415A>G (p.Gln1472Arg) c.4216+13825A>G (n.4216+13825A>G) c.4523A>G (p.Gln1508Arg) c.4496A>G (p.Gln1499Arg) c.4350A>G (p.Pro1450=) c.4233A>G (p.Pro1411=) c.2930A>G (p.Gln977Arg) n.4914A>G n.4526+13825A>G c.4487A>G (p.Gln1496Arg) n.4930A>G n.4676A>G n.4542+13825A>G | |
2 | g.227008223T>G | CA351140867 | COL4A4 | c.206A>C (p.Gln69Pro) c.4604A>C (p.Gln1535Pro) c.4049A>C (p.Gln1350Pro) c.4415A>C (p.Gln1472Pro) c.4216+13825A>C (n.4216+13825A>C) c.4523A>C (p.Gln1508Pro) c.4496A>C (p.Gln1499Pro) c.4350A>C (p.Pro1450=) c.4233A>C (p.Pro1411=) c.2930A>C (p.Gln977Pro) n.4914A>C n.4526+13825A>C c.4487A>C (p.Gln1496Pro) n.4930A>C n.4676A>C n.4542+13825A>C | |
2 | g.227008223_227008224del | CA1139657738 | COL4A4 | c.205_206del (p.Gln69GlufsTer21) c.4603_4604del (p.Gln1535GlufsTer21) c.4048_4049del (p.Gln1350GlufsTer21) c.4414_4415del (p.Gln1472GlufsTer21) c.4216+13824_4216+13825del (n.4216+13824_4216+13825del) c.4522_4523del (p.Gln1508GlufsTer21) c.4495_4496del (p.Gln1499GlufsTer21) c.4349_4350del (p.Pro1450ArgfsTer17) c.4232_4233del (p.Pro1411ArgfsTer17) c.2929_2930del (p.Gln977GlufsTer21) n.4913_4914del n.4526+13824_4526+13825del c.4486_4487del (p.Gln1496GlufsTer21) n.4929_4930del n.4675_4676del n.4542+13824_4542+13825del | ClinVar dbSNP gnomAD v4 |
2 | g.227008224G>A | CA351140868 | COL4A4 | c.205C>T (p.Gln69Ter) c.4603C>T (p.Gln1535Ter) c.4048C>T (p.Gln1350Ter) c.4414C>T (p.Gln1472Ter) c.4216+13824C>T (n.4216+13824C>T) c.4522C>T (p.Gln1508Ter) c.4495C>T (p.Gln1499Ter) c.4349C>T (p.Pro1450Leu) c.4232C>T (p.Pro1411Leu) c.2929C>T (p.Gln977Ter) n.4913C>T n.4526+13824C>T c.4486C>T (p.Gln1496Ter) n.4929C>T n.4675C>T n.4542+13824C>T | ClinVar |
2 | g.227008224G>C | CA351140869 | COL4A4 | c.205C>G (p.Gln69Glu) c.4603C>G (p.Gln1535Glu) c.4048C>G (p.Gln1350Glu) c.4414C>G (p.Gln1472Glu) c.4216+13824C>G (n.4216+13824C>G) c.4522C>G (p.Gln1508Glu) c.4495C>G (p.Gln1499Glu) c.4349C>G (p.Pro1450Arg) c.4232C>G (p.Pro1411Arg) c.2929C>G (p.Gln977Glu) n.4913C>G n.4526+13824C>G c.4486C>G (p.Gln1496Glu) n.4929C>G n.4675C>G n.4542+13824C>G | |
2 | g.227008224G>T | CA351140870 | COL4A4 | c.205C>A (p.Gln69Lys) c.4603C>A (p.Gln1535Lys) c.4048C>A (p.Gln1350Lys) c.4414C>A (p.Gln1472Lys) c.4216+13824C>A (n.4216+13824C>A) c.4522C>A (p.Gln1508Lys) c.4495C>A (p.Gln1499Lys) c.4349C>A (p.Pro1450Gln) c.4232C>A (p.Pro1411Gln) c.2929C>A (p.Gln977Lys) n.4913C>A n.4526+13824C>A c.4486C>A (p.Gln1496Lys) n.4929C>A n.4675C>A n.4542+13824C>A | |
2 | g.227008226del | CA2577263045 | COL4A4 | c.205del (p.Gln69ArgfsTer17) c.4603del (p.Gln1535ArgfsTer17) c.4048del (p.Gln1350ArgfsTer17) c.4414del (p.Gln1472ArgfsTer17) c.4216+13824del (n.4216+13824del) c.4522del (p.Gln1508ArgfsTer17) c.4495del (p.Gln1499ArgfsTer17) c.4349del (p.Pro1450GlnfsTer?) c.4232del (p.Pro1411GlnfsTer?) c.2929del (p.Gln977ArgfsTer17) n.4913del n.4526+13824del c.4486del (p.Gln1496ArgfsTer17) n.4929del n.4675del n.4542+13824del | |
2 | g.227008225G>A | CA431671983 | COL4A4 | c.204C>T (p.Ala68=) c.4602C>T (p.Ala1534=) c.4047C>T (p.Ala1349=) c.4413C>T (p.Ala1471=) c.4216+13823C>T (n.4216+13823C>T) c.4521C>T (p.Ala1507=) c.4494C>T (p.Ala1498=) c.4348C>T (p.Pro1450Ser) c.4231C>T (p.Pro1411Ser) c.2928C>T (p.Ala976=) n.4912C>T n.4526+13823C>T c.4485C>T (p.Ala1495=) n.4928C>T n.4674C>T n.4542+13823C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008225G>C | CA431671984 | COL4A4 | c.204C>G (p.Ala68=) c.4602C>G (p.Ala1534=) c.4047C>G (p.Ala1349=) c.4413C>G (p.Ala1471=) c.4216+13823C>G (n.4216+13823C>G) c.4521C>G (p.Ala1507=) c.4494C>G (p.Ala1498=) c.4348C>G (p.Pro1450Ala) c.4231C>G (p.Pro1411Ala) c.2928C>G (p.Ala976=) n.4912C>G n.4526+13823C>G c.4485C>G (p.Ala1495=) n.4928C>G n.4674C>G n.4542+13823C>G | |
2 | g.227008225G= | CA1332723971 | COL4A4 | c.204C= (p.Ala68=) c.4602C= (p.Ala1534=) c.4047C= (p.Ala1349=) c.4413C= (p.Ala1471=) c.4216+13823C= (n.4216+13823C=) c.4521C= (p.Ala1507=) c.4494C= (p.Ala1498=) c.4348C= (p.Pro1450=) c.4231C= (p.Pro1411=) c.2928C= (p.Ala976=) n.4912C= n.4526+13823C= c.4485C= (p.Ala1495=) n.4928C= n.4674C= n.4542+13823C= | |
2 | g.227008225G>T | CA431671985 | COL4A4 | c.204C>A (p.Ala68=) c.4602C>A (p.Ala1534=) c.4047C>A (p.Ala1349=) c.4413C>A (p.Ala1471=) c.4216+13823C>A (n.4216+13823C>A) c.4521C>A (p.Ala1507=) c.4494C>A (p.Ala1498=) c.4348C>A (p.Pro1450Thr) c.4231C>A (p.Pro1411Thr) c.2928C>A (p.Ala976=) n.4912C>A n.4526+13823C>A c.4485C>A (p.Ala1495=) n.4928C>A n.4674C>A n.4542+13823C>A | |
2 | g.227008226G>A | CA351140872 | COL4A4 | c.203C>T (p.Ala68Val) c.4601C>T (p.Ala1534Val) c.4046C>T (p.Ala1349Val) c.4412C>T (p.Ala1471Val) c.4216+13822C>T (n.4216+13822C>T) c.4520C>T (p.Ala1507Val) c.4493C>T (p.Ala1498Val) c.4347C>T (p.Cys1449=) c.4230C>T (p.Cys1410=) c.2927C>T (p.Ala976Val) n.4911C>T n.4526+13822C>T c.4484C>T (p.Ala1495Val) n.4927C>T n.4673C>T n.4542+13822C>T | |
2 | g.227008226G>C | CA351140873 | COL4A4 | c.203C>G (p.Ala68Gly) c.4601C>G (p.Ala1534Gly) c.4046C>G (p.Ala1349Gly) c.4412C>G (p.Ala1471Gly) c.4216+13822C>G (n.4216+13822C>G) c.4520C>G (p.Ala1507Gly) c.4493C>G (p.Ala1498Gly) c.4347C>G (p.Cys1449Trp) c.4230C>G (p.Cys1410Trp) c.2927C>G (p.Ala976Gly) n.4911C>G n.4526+13822C>G c.4484C>G (p.Ala1495Gly) n.4927C>G n.4673C>G n.4542+13822C>G | |
2 | g.227008226G>T | CA351140871 | COL4A4 | c.203C>A (p.Ala68Asp) c.4601C>A (p.Ala1534Asp) c.4046C>A (p.Ala1349Asp) c.4412C>A (p.Ala1471Asp) c.4216+13822C>A (n.4216+13822C>A) c.4520C>A (p.Ala1507Asp) c.4493C>A (p.Ala1498Asp) c.4347C>A (p.Cys1449Ter) c.4230C>A (p.Cys1410Ter) c.2927C>A (p.Ala976Asp) n.4911C>A n.4526+13822C>A c.4484C>A (p.Ala1495Asp) n.4927C>A n.4673C>A n.4542+13822C>A | |
2 | g.227008227C>A | CA351140876 | COL4A4 | c.202G>T (p.Ala68Ser) c.4600G>T (p.Ala1534Ser) c.4045G>T (p.Ala1349Ser) c.4411G>T (p.Ala1471Ser) c.4216+13821G>T (n.4216+13821G>T) c.4519G>T (p.Ala1507Ser) c.4492G>T (p.Ala1498Ser) c.4346G>T (p.Cys1449Phe) c.4229G>T (p.Cys1410Phe) c.2926G>T (p.Ala976Ser) n.4910G>T n.4526+13821G>T c.4483G>T (p.Ala1495Ser) n.4926G>T n.4672G>T n.4542+13821G>T | |
2 | g.227008227C>G | CA351140874 | COL4A4 | c.202G>C (p.Ala68Pro) c.4600G>C (p.Ala1534Pro) c.4045G>C (p.Ala1349Pro) c.4411G>C (p.Ala1471Pro) c.4216+13821G>C (n.4216+13821G>C) c.4519G>C (p.Ala1507Pro) c.4492G>C (p.Ala1498Pro) c.4346G>C (p.Cys1449Ser) c.4229G>C (p.Cys1410Ser) c.2926G>C (p.Ala976Pro) n.4910G>C n.4526+13821G>C c.4483G>C (p.Ala1495Pro) n.4926G>C n.4672G>C n.4542+13821G>C | |
2 | g.227008227C>T | CA351140875 | COL4A4 | c.202G>A (p.Ala68Thr) c.4600G>A (p.Ala1534Thr) c.4045G>A (p.Ala1349Thr) c.4411G>A (p.Ala1471Thr) c.4216+13821G>A (n.4216+13821G>A) c.4519G>A (p.Ala1507Thr) c.4492G>A (p.Ala1498Thr) c.4346G>A (p.Cys1449Tyr) c.4229G>A (p.Cys1410Tyr) c.2926G>A (p.Ala976Thr) n.4910G>A n.4526+13821G>A c.4483G>A (p.Ala1495Thr) n.4926G>A n.4672G>A n.4542+13821G>A | |
2 | g.227008228A= | CA1332723972 | COL4A4 | c.201T= (p.Tyr67=) c.4599T= (p.Tyr1533=) c.4044T= (p.Tyr1348=) c.4410T= (p.Tyr1470=) c.4216+13820T= (n.4216+13820T=) c.4518T= (p.Tyr1506=) c.4491T= (p.Tyr1497=) c.4345T= (p.Cys1449=) c.4228T= (p.Cys1410=) c.2925T= (p.Tyr975=) n.4909T= n.4526+13820T= c.4482T= (p.Tyr1494=) n.4925T= n.4671T= n.4542+13820T= | |
2 | g.227008228A>C | CA351140877 | COL4A4 | c.201T>G (p.Tyr67Ter) c.4599T>G (p.Tyr1533Ter) c.4044T>G (p.Tyr1348Ter) c.4410T>G (p.Tyr1470Ter) c.4216+13820T>G (n.4216+13820T>G) c.4518T>G (p.Tyr1506Ter) c.4491T>G (p.Tyr1497Ter) c.4345T>G (p.Cys1449Gly) c.4228T>G (p.Cys1410Gly) c.2925T>G (p.Tyr975Ter) n.4909T>G n.4526+13820T>G c.4482T>G (p.Tyr1494Ter) n.4925T>G n.4671T>G n.4542+13820T>G | ClinVar dbSNP |
2 | g.227008228A>G | CA2144116 | COL4A4 | c.201T>C (p.Tyr67=) c.4599T>C (p.Tyr1533=) c.4044T>C (p.Tyr1348=) c.4410T>C (p.Tyr1470=) c.4216+13820T>C (n.4216+13820T>C) c.4518T>C (p.Tyr1506=) c.4491T>C (p.Tyr1497=) c.4345T>C (p.Cys1449Arg) c.4228T>C (p.Cys1410Arg) c.2925T>C (p.Tyr975=) n.4909T>C n.4526+13820T>C c.4482T>C (p.Tyr1494=) n.4925T>C n.4671T>C n.4542+13820T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008228A>T | CA351140878 | COL4A4 | c.201T>A (p.Tyr67Ter) c.4599T>A (p.Tyr1533Ter) c.4044T>A (p.Tyr1348Ter) c.4410T>A (p.Tyr1470Ter) c.4216+13820T>A (n.4216+13820T>A) c.4518T>A (p.Tyr1506Ter) c.4491T>A (p.Tyr1497Ter) c.4345T>A (p.Cys1449Ser) c.4228T>A (p.Cys1410Ser) c.2925T>A (p.Tyr975Ter) n.4909T>A n.4526+13820T>A c.4482T>A (p.Tyr1494Ter) n.4925T>A n.4671T>A n.4542+13820T>A | |
2 | g.227008229T>A | CA351140879 | COL4A4 | c.200A>T (p.Tyr67Phe) c.4598A>T (p.Tyr1533Phe) c.4043A>T (p.Tyr1348Phe) c.4409A>T (p.Tyr1470Phe) c.4216+13819A>T (n.4216+13819A>T) c.4517A>T (p.Tyr1506Phe) c.4490A>T (p.Tyr1497Phe) c.4344A>T (p.Leu1448=) c.4227A>T (p.Leu1409=) c.2924A>T (p.Tyr975Phe) n.4908A>T n.4526+13819A>T c.4481A>T (p.Tyr1494Phe) n.4924A>T n.4670A>T n.4542+13819A>T | |
2 | g.227008229T>C | CA351140880 | COL4A4 | c.200A>G (p.Tyr67Cys) c.4598A>G (p.Tyr1533Cys) c.4043A>G (p.Tyr1348Cys) c.4409A>G (p.Tyr1470Cys) c.4216+13819A>G (n.4216+13819A>G) c.4517A>G (p.Tyr1506Cys) c.4490A>G (p.Tyr1497Cys) c.4344A>G (p.Leu1448=) c.4227A>G (p.Leu1409=) c.2924A>G (p.Tyr975Cys) n.4908A>G n.4526+13819A>G c.4481A>G (p.Tyr1494Cys) n.4924A>G n.4670A>G n.4542+13819A>G | |
2 | g.227008229T>G | CA351140881 | COL4A4 | c.200A>C (p.Tyr67Ser) c.4598A>C (p.Tyr1533Ser) c.4043A>C (p.Tyr1348Ser) c.4409A>C (p.Tyr1470Ser) c.4216+13819A>C (n.4216+13819A>C) c.4517A>C (p.Tyr1506Ser) c.4490A>C (p.Tyr1497Ser) c.4344A>C (p.Leu1448=) c.4227A>C (p.Leu1409=) c.2924A>C (p.Tyr975Ser) n.4908A>C n.4526+13819A>C c.4481A>C (p.Tyr1494Ser) n.4924A>C n.4670A>C n.4542+13819A>C | |
2 | g.227008230A>C | CA351140882 | COL4A4 | c.199T>G (p.Tyr67Asp) c.4597T>G (p.Tyr1533Asp) c.4042T>G (p.Tyr1348Asp) c.4408T>G (p.Tyr1470Asp) c.4216+13818T>G (n.4216+13818T>G) c.4516T>G (p.Tyr1506Asp) c.4489T>G (p.Tyr1497Asp) c.4343T>G (p.Leu1448Arg) c.4226T>G (p.Leu1409Arg) c.2923T>G (p.Tyr975Asp) n.4907T>G n.4526+13818T>G c.4480T>G (p.Tyr1494Asp) n.4923T>G n.4669T>G n.4542+13818T>G | |
2 | g.227008230A>G | CA351140883 | COL4A4 | c.199T>C (p.Tyr67His) c.4597T>C (p.Tyr1533His) c.4042T>C (p.Tyr1348His) c.4408T>C (p.Tyr1470His) c.4216+13818T>C (n.4216+13818T>C) c.4516T>C (p.Tyr1506His) c.4489T>C (p.Tyr1497His) c.4343T>C (p.Leu1448Pro) c.4226T>C (p.Leu1409Pro) c.2923T>C (p.Tyr975His) n.4907T>C n.4526+13818T>C c.4480T>C (p.Tyr1494His) n.4923T>C n.4669T>C n.4542+13818T>C | |
2 | g.227008230A>T | CA351140884 | COL4A4 | c.199T>A (p.Tyr67Asn) c.4597T>A (p.Tyr1533Asn) c.4042T>A (p.Tyr1348Asn) c.4408T>A (p.Tyr1470Asn) c.4216+13818T>A (n.4216+13818T>A) c.4516T>A (p.Tyr1506Asn) c.4489T>A (p.Tyr1497Asn) c.4343T>A (p.Leu1448Gln) c.4226T>A (p.Leu1409Gln) c.2923T>A (p.Tyr975Asn) n.4907T>A n.4526+13818T>A c.4480T>A (p.Tyr1494Asn) n.4923T>A n.4669T>A n.4542+13818T>A | |
2 | g.227008231G>A | CA431671987 | COL4A4 | c.198C>T (p.His66=) c.4596C>T (p.His1532=) c.4041C>T (p.His1347=) c.4407C>T (p.His1469=) c.4216+13817C>T (n.4216+13817C>T) c.4515C>T (p.His1505=) c.4488C>T (p.His1496=) c.4342C>T (p.Leu1448=) c.4225C>T (p.Leu1409=) c.2922C>T (p.His974=) n.4906C>T n.4526+13817C>T c.4479C>T (p.His1493=) n.4922C>T n.4668C>T n.4542+13817C>T | |
2 | g.227008231G>C | CA351140885 | COL4A4 | c.198C>G (p.His66Gln) c.4596C>G (p.His1532Gln) c.4041C>G (p.His1347Gln) c.4407C>G (p.His1469Gln) c.4216+13817C>G (n.4216+13817C>G) c.4515C>G (p.His1505Gln) c.4488C>G (p.His1496Gln) c.4342C>G (p.Leu1448Val) c.4225C>G (p.Leu1409Val) c.2922C>G (p.His974Gln) n.4906C>G n.4526+13817C>G c.4479C>G (p.His1493Gln) n.4922C>G n.4668C>G n.4542+13817C>G | |
2 | g.227008231G>T | CA351140886 | COL4A4 | c.198C>A (p.His66Gln) c.4596C>A (p.His1532Gln) c.4041C>A (p.His1347Gln) c.4407C>A (p.His1469Gln) c.4216+13817C>A (n.4216+13817C>A) c.4515C>A (p.His1505Gln) c.4488C>A (p.His1496Gln) c.4342C>A (p.Leu1448Ile) c.4225C>A (p.Leu1409Ile) c.2922C>A (p.His974Gln) n.4906C>A n.4526+13817C>A c.4479C>A (p.His1493Gln) n.4922C>A n.4668C>A n.4542+13817C>A | |
2 | g.227008232T>A | CA351140888 | COL4A4 | c.197A>T (p.His66Leu) c.4595A>T (p.His1532Leu) c.4040A>T (p.His1347Leu) c.4406A>T (p.His1469Leu) c.4216+13816A>T (n.4216+13816A>T) c.4514A>T (p.His1505Leu) c.4487A>T (p.His1496Leu) c.4341A>T (p.Pro1447=) c.4224A>T (p.Pro1408=) c.2921A>T (p.His974Leu) n.4905A>T n.4526+13816A>T c.4478A>T (p.His1493Leu) n.4921A>T n.4667A>T n.4542+13816A>T | |
2 | g.227008232T>C | CA2144117 | COL4A4 | c.197A>G (p.His66Arg) c.4595A>G (p.His1532Arg) c.4040A>G (p.His1347Arg) c.4406A>G (p.His1469Arg) c.4216+13816A>G (n.4216+13816A>G) c.4514A>G (p.His1505Arg) c.4487A>G (p.His1496Arg) c.4341A>G (p.Pro1447=) c.4224A>G (p.Pro1408=) c.2921A>G (p.His974Arg) n.4905A>G n.4526+13816A>G c.4478A>G (p.His1493Arg) n.4921A>G n.4667A>G n.4542+13816A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227008232T>G | CA351140887 | COL4A4 | c.197A>C (p.His66Pro) c.4595A>C (p.His1532Pro) c.4040A>C (p.His1347Pro) c.4406A>C (p.His1469Pro) c.4216+13816A>C (n.4216+13816A>C) c.4514A>C (p.His1505Pro) c.4487A>C (p.His1496Pro) c.4341A>C (p.Pro1447=) c.4224A>C (p.Pro1408=) c.2921A>C (p.His974Pro) n.4905A>C n.4526+13816A>C c.4478A>C (p.His1493Pro) n.4921A>C n.4667A>C n.4542+13816A>C | |
2 | g.227008232T= | CA1332723973 | COL4A4 | c.197A= (p.His66=) c.4595A= (p.His1532=) c.4040A= (p.His1347=) c.4406A= (p.His1469=) c.4216+13816A= (n.4216+13816A=) c.4514A= (p.His1505=) c.4487A= (p.His1496=) c.4341A= (p.Pro1447=) c.4224A= (p.Pro1408=) c.2921A= (p.His974=) n.4905A= n.4526+13816A= c.4478A= (p.His1493=) n.4921A= n.4667A= n.4542+13816A= | |
2 | g.227008233G>A | CA351140889 | COL4A4 | c.196C>T (p.His66Tyr) c.4594C>T (p.His1532Tyr) c.4039C>T (p.His1347Tyr) c.4405C>T (p.His1469Tyr) c.4216+13815C>T (n.4216+13815C>T) c.4513C>T (p.His1505Tyr) c.4486C>T (p.His1496Tyr) c.4340C>T (p.Pro1447Leu) c.4223C>T (p.Pro1408Leu) c.2920C>T (p.His974Tyr) n.4904C>T n.4526+13815C>T c.4477C>T (p.His1493Tyr) n.4920C>T n.4666C>T n.4542+13815C>T | |
2 | g.227008233G>C | CA351140890 | COL4A4 | c.196C>G (p.His66Asp) c.4594C>G (p.His1532Asp) c.4039C>G (p.His1347Asp) c.4405C>G (p.His1469Asp) c.4216+13815C>G (n.4216+13815C>G) c.4513C>G (p.His1505Asp) c.4486C>G (p.His1496Asp) c.4340C>G (p.Pro1447Arg) c.4223C>G (p.Pro1408Arg) c.2920C>G (p.His974Asp) n.4904C>G n.4526+13815C>G c.4477C>G (p.His1493Asp) n.4920C>G n.4666C>G n.4542+13815C>G | |
2 | g.227008233G= | CA1332723974 | COL4A4 | c.196C= (p.His66=) c.4594C= (p.His1532=) c.4039C= (p.His1347=) c.4405C= (p.His1469=) c.4216+13815C= (n.4216+13815C=) c.4513C= (p.His1505=) c.4486C= (p.His1496=) c.4340C= (p.Pro1447=) c.4223C= (p.Pro1408=) c.2920C= (p.His974=) n.4904C= n.4526+13815C= c.4477C= (p.His1493=) n.4920C= n.4666C= n.4542+13815C= | |
2 | g.227008233G>T | CA351140891 | COL4A4 | c.196C>A (p.His66Asn) c.4594C>A (p.His1532Asn) c.4039C>A (p.His1347Asn) c.4405C>A (p.His1469Asn) c.4216+13815C>A (n.4216+13815C>A) c.4513C>A (p.His1505Asn) c.4486C>A (p.His1496Asn) c.4340C>A (p.Pro1447Gln) c.4223C>A (p.Pro1408Gln) c.2920C>A (p.His974Asn) n.4904C>A n.4526+13815C>A c.4477C>A (p.His1493Asn) n.4920C>A n.4666C>A n.4542+13815C>A | ClinVar dbSNP gnomAD v4 |
2 | g.227008234G>A | CA431671988 | COL4A4 | c.195C>T (p.Cys65=) c.4593C>T (p.Cys1531=) c.4038C>T (p.Cys1346=) c.4404C>T (p.Cys1468=) c.4216+13814C>T (n.4216+13814C>T) c.4512C>T (p.Cys1504=) c.4485C>T (p.Cys1495=) c.4339C>T (p.Pro1447Ser) c.4222C>T (p.Pro1408Ser) c.2919C>T (p.Cys973=) n.4903C>T n.4526+13814C>T c.4476C>T (p.Cys1492=) n.4919C>T n.4665C>T n.4542+13814C>T | gnomAD v4 |
2 | g.227008234G>C | CA351140892 | COL4A4 | c.195C>G (p.Cys65Trp) c.4593C>G (p.Cys1531Trp) c.4038C>G (p.Cys1346Trp) c.4404C>G (p.Cys1468Trp) c.4216+13814C>G (n.4216+13814C>G) c.4512C>G (p.Cys1504Trp) c.4485C>G (p.Cys1495Trp) c.4339C>G (p.Pro1447Ala) c.4222C>G (p.Pro1408Ala) c.2919C>G (p.Cys973Trp) n.4903C>G n.4526+13814C>G c.4476C>G (p.Cys1492Trp) n.4919C>G n.4665C>G n.4542+13814C>G | |
2 | g.227008234G>T | CA351140893 | COL4A4 | c.195C>A (p.Cys65Ter) c.4593C>A (p.Cys1531Ter) c.4038C>A (p.Cys1346Ter) c.4404C>A (p.Cys1468Ter) c.4216+13814C>A (n.4216+13814C>A) c.4512C>A (p.Cys1504Ter) c.4485C>A (p.Cys1495Ter) c.4339C>A (p.Pro1447Thr) c.4222C>A (p.Pro1408Thr) c.2919C>A (p.Cys973Ter) n.4903C>A n.4526+13814C>A c.4476C>A (p.Cys1492Ter) n.4919C>A n.4665C>A n.4542+13814C>A | |
2 | g.227008235C>A | CA351140894 | COL4A4 | c.194G>T (p.Cys65Phe) c.4592G>T (p.Cys1531Phe) c.4037G>T (p.Cys1346Phe) c.4403G>T (p.Cys1468Phe) c.4216+13813G>T (n.4216+13813G>T) c.4511G>T (p.Cys1504Phe) c.4484G>T (p.Cys1495Phe) c.4338G>T (p.Val1446=) c.4221G>T (p.Val1407=) c.2918G>T (p.Cys973Phe) n.4902G>T n.4526+13813G>T c.4475G>T (p.Cys1492Phe) n.4918G>T n.4664G>T n.4542+13813G>T | dbSNP gnomAD v4 |
2 | g.227008235C= | CA1332723975 | COL4A4 | c.194G= (p.Cys65=) c.4592G= (p.Cys1531=) c.4037G= (p.Cys1346=) c.4403G= (p.Cys1468=) c.4216+13813G= (n.4216+13813G=) c.4511G= (p.Cys1504=) c.4484G= (p.Cys1495=) c.4338G= (p.Val1446=) c.4221G= (p.Val1407=) c.2918G= (p.Cys973=) n.4902G= n.4526+13813G= c.4475G= (p.Cys1492=) n.4918G= n.4664G= n.4542+13813G= | |
2 | g.227008235C>G | CA351140895 | COL4A4 | c.194G>C (p.Cys65Ser) c.4592G>C (p.Cys1531Ser) c.4037G>C (p.Cys1346Ser) c.4403G>C (p.Cys1468Ser) c.4216+13813G>C (n.4216+13813G>C) c.4511G>C (p.Cys1504Ser) c.4484G>C (p.Cys1495Ser) c.4338G>C (p.Val1446=) c.4221G>C (p.Val1407=) c.2918G>C (p.Cys973Ser) n.4902G>C n.4526+13813G>C c.4475G>C (p.Cys1492Ser) n.4918G>C n.4664G>C n.4542+13813G>C | |
2 | g.227008235C>T | CA351140896 | COL4A4 | c.194G>A (p.Cys65Tyr) c.4592G>A (p.Cys1531Tyr) c.4037G>A (p.Cys1346Tyr) c.4403G>A (p.Cys1468Tyr) c.4216+13813G>A (n.4216+13813G>A) c.4511G>A (p.Cys1504Tyr) c.4484G>A (p.Cys1495Tyr) c.4338G>A (p.Val1446=) c.4221G>A (p.Val1407=) c.2918G>A (p.Cys973Tyr) n.4902G>A n.4526+13813G>A c.4475G>A (p.Cys1492Tyr) n.4918G>A n.4664G>A n.4542+13813G>A | gnomAD v4 |
2 | g.227008236A>C | CA351140897 | COL4A4 | c.193T>G (p.Cys65Gly) c.4591T>G (p.Cys1531Gly) c.4036T>G (p.Cys1346Gly) c.4402T>G (p.Cys1468Gly) c.4216+13812T>G (n.4216+13812T>G) c.4510T>G (p.Cys1504Gly) c.4483T>G (p.Cys1495Gly) c.4337T>G (p.Val1446Gly) c.4220T>G (p.Val1407Gly) c.2917T>G (p.Cys973Gly) n.4901T>G n.4526+13812T>G c.4474T>G (p.Cys1492Gly) n.4917T>G n.4663T>G n.4542+13812T>G | |
2 | g.227008236A>G | CA351140898 | COL4A4 | c.193T>C (p.Cys65Arg) c.4591T>C (p.Cys1531Arg) c.4036T>C (p.Cys1346Arg) c.4402T>C (p.Cys1468Arg) c.4216+13812T>C (n.4216+13812T>C) c.4510T>C (p.Cys1504Arg) c.4483T>C (p.Cys1495Arg) c.4337T>C (p.Val1446Ala) c.4220T>C (p.Val1407Ala) c.2917T>C (p.Cys973Arg) n.4901T>C n.4526+13812T>C c.4474T>C (p.Cys1492Arg) n.4917T>C n.4663T>C n.4542+13812T>C | |
2 | g.227008236A>T | CA351140899 | COL4A4 | c.193T>A (p.Cys65Ser) c.4591T>A (p.Cys1531Ser) c.4036T>A (p.Cys1346Ser) c.4402T>A (p.Cys1468Ser) c.4216+13812T>A (n.4216+13812T>A) c.4510T>A (p.Cys1504Ser) c.4483T>A (p.Cys1495Ser) c.4337T>A (p.Val1446Glu) c.4220T>A (p.Val1407Glu) c.2917T>A (p.Cys973Ser) n.4901T>A n.4526+13812T>A c.4474T>A (p.Cys1492Ser) n.4917T>A n.4663T>A n.4542+13812T>A | |
2 | g.227008237C>A | CA431671989 | COL4A4 | c.192G>T (p.Val64=) c.4590G>T (p.Val1530=) c.4035G>T (p.Val1345=) c.4401G>T (p.Val1467=) c.4216+13811G>T (n.4216+13811G>T) c.4509G>T (p.Val1503=) c.4482G>T (p.Val1494=) c.4336G>T (p.Val1446Leu) c.4219G>T (p.Val1407Leu) c.2916G>T (p.Val972=) n.4900G>T n.4526+13811G>T c.4473G>T (p.Val1491=) n.4916G>T n.4662G>T n.4542+13811G>T | |
2 | g.227008237C= | CA1332723976 | COL4A4 | c.192G= (p.Val64=) c.4590G= (p.Val1530=) c.4035G= (p.Val1345=) c.4401G= (p.Val1467=) c.4216+13811G= (n.4216+13811G=) c.4509G= (p.Val1503=) c.4482G= (p.Val1494=) c.4336G= (p.Val1446=) c.4219G= (p.Val1407=) c.2916G= (p.Val972=) n.4900G= n.4526+13811G= c.4473G= (p.Val1491=) n.4916G= n.4662G= n.4542+13811G= | |
2 | g.227008237C>G | CA431671990 | COL4A4 | c.192G>C (p.Val64=) c.4590G>C (p.Val1530=) c.4035G>C (p.Val1345=) c.4401G>C (p.Val1467=) c.4216+13811G>C (n.4216+13811G>C) c.4509G>C (p.Val1503=) c.4482G>C (p.Val1494=) c.4336G>C (p.Val1446Leu) c.4219G>C (p.Val1407Leu) c.2916G>C (p.Val972=) n.4900G>C n.4526+13811G>C c.4473G>C (p.Val1491=) n.4916G>C n.4662G>C n.4542+13811G>C | |
2 | g.227008237C>T | CA2144118 | COL4A4 | c.192G>A (p.Val64=) c.4590G>A (p.Val1530=) c.4035G>A (p.Val1345=) c.4401G>A (p.Val1467=) c.4216+13811G>A (n.4216+13811G>A) c.4509G>A (p.Val1503=) c.4482G>A (p.Val1494=) c.4336G>A (p.Val1446Met) c.4219G>A (p.Val1407Met) c.2916G>A (p.Val972=) n.4900G>A n.4526+13811G>A c.4473G>A (p.Val1491=) n.4916G>A n.4662G>A n.4542+13811G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008238A>C | CA351140902 | COL4A4 | c.191T>G (p.Val64Gly) c.4589T>G (p.Val1530Gly) c.4034T>G (p.Val1345Gly) c.4400T>G (p.Val1467Gly) c.4216+13810T>G (n.4216+13810T>G) c.4508T>G (p.Val1503Gly) c.4481T>G (p.Val1494Gly) c.4335T>G (p.Gly1445=) c.4218T>G (p.Gly1406=) c.2915T>G (p.Val972Gly) n.4899T>G n.4526+13810T>G c.4472T>G (p.Val1491Gly) n.4915T>G n.4661T>G n.4542+13810T>G | |
2 | g.227008238A>G | CA351140901 | COL4A4 | c.191T>C (p.Val64Ala) c.4589T>C (p.Val1530Ala) c.4034T>C (p.Val1345Ala) c.4400T>C (p.Val1467Ala) c.4216+13810T>C (n.4216+13810T>C) c.4508T>C (p.Val1503Ala) c.4481T>C (p.Val1494Ala) c.4335T>C (p.Gly1445=) c.4218T>C (p.Gly1406=) c.2915T>C (p.Val972Ala) n.4899T>C n.4526+13810T>C c.4472T>C (p.Val1491Ala) n.4915T>C n.4661T>C n.4542+13810T>C | |
2 | g.227008238A>T | CA351140900 | COL4A4 | c.191T>A (p.Val64Glu) c.4589T>A (p.Val1530Glu) c.4034T>A (p.Val1345Glu) c.4400T>A (p.Val1467Glu) c.4216+13810T>A (n.4216+13810T>A) c.4508T>A (p.Val1503Glu) c.4481T>A (p.Val1494Glu) c.4335T>A (p.Gly1445=) c.4218T>A (p.Gly1406=) c.2915T>A (p.Val972Glu) n.4899T>A n.4526+13810T>A c.4472T>A (p.Val1491Glu) n.4915T>A n.4661T>A n.4542+13810T>A | |
2 | g.227008239C>A | CA351140905 | COL4A4 | c.190G>T (p.Val64Leu) c.4588G>T (p.Val1530Leu) c.4033G>T (p.Val1345Leu) c.4399G>T (p.Val1467Leu) c.4216+13809G>T (n.4216+13809G>T) c.4507G>T (p.Val1503Leu) c.4480G>T (p.Val1494Leu) c.4334G>T (p.Gly1445Val) c.4217G>T (p.Gly1406Val) c.2914G>T (p.Val972Leu) n.4898G>T n.4526+13809G>T c.4471G>T (p.Val1491Leu) n.4914G>T n.4660G>T n.4542+13809G>T | |
2 | g.227008239C>G | CA351140903 | COL4A4 | c.190G>C (p.Val64Leu) c.4588G>C (p.Val1530Leu) c.4033G>C (p.Val1345Leu) c.4399G>C (p.Val1467Leu) c.4216+13809G>C (n.4216+13809G>C) c.4507G>C (p.Val1503Leu) c.4480G>C (p.Val1494Leu) c.4334G>C (p.Gly1445Ala) c.4217G>C (p.Gly1406Ala) c.2914G>C (p.Val972Leu) n.4898G>C n.4526+13809G>C c.4471G>C (p.Val1491Leu) n.4914G>C n.4660G>C n.4542+13809G>C | gnomAD v4 |
2 | g.227008239C>T | CA351140904 | COL4A4 | c.190G>A (p.Val64Met) c.4588G>A (p.Val1530Met) c.4033G>A (p.Val1345Met) c.4399G>A (p.Val1467Met) c.4216+13809G>A (n.4216+13809G>A) c.4507G>A (p.Val1503Met) c.4480G>A (p.Val1494Met) c.4334G>A (p.Gly1445Asp) c.4217G>A (p.Gly1406Asp) c.2914G>A (p.Val972Met) n.4898G>A n.4526+13809G>A c.4471G>A (p.Val1491Met) n.4914G>A n.4660G>A n.4542+13809G>A | gnomAD v4 |
2 | g.227008240C>A | CA351140906 | COL4A4 | c.190-1G>T (n.190-1G>T) c.4587G>T (p.Gln1529His) c.4032G>T (p.Gln1344His) c.4398G>T (p.Gln1466His) c.4216+13808G>T (n.4216+13808G>T) c.4506G>T (p.Gln1502His) c.4479G>T (p.Gln1493His) c.4334-1G>T (n.4334-1G>T) c.4217-1G>T (n.4217-1G>T) c.2913G>T (p.Gln971His) n.4897G>T n.4526+13808G>T c.4470G>T (p.Gln1490His) n.4913G>T n.4660-1G>T n.4542+13808G>T | |
2 | g.227008240C= | CA1332723977 | COL4A4 | c.190-1G= (n.190-1G=) c.4587G= (p.Gln1529=) c.4032G= (p.Gln1344=) c.4398G= (p.Gln1466=) c.4216+13808G= (n.4216+13808G=) c.4506G= (p.Gln1502=) c.4479G= (p.Gln1493=) c.4334-1G= (n.4334-1G=) c.4217-1G= (n.4217-1G=) c.2913G= (p.Gln971=) n.4897G= n.4526+13808G= c.4470G= (p.Gln1490=) n.4913G= n.4660-1G= n.4542+13808G= | |
2 | g.227008240C>G | CA351140907 | COL4A4 | c.190-1G>C (n.190-1G>C) c.4587G>C (p.Gln1529His) c.4032G>C (p.Gln1344His) c.4398G>C (p.Gln1466His) c.4216+13808G>C (n.4216+13808G>C) c.4506G>C (p.Gln1502His) c.4479G>C (p.Gln1493His) c.4334-1G>C (n.4334-1G>C) c.4217-1G>C (n.4217-1G>C) c.2913G>C (p.Gln971His) n.4897G>C n.4526+13808G>C c.4470G>C (p.Gln1490His) n.4913G>C n.4660-1G>C n.4542+13808G>C | |
2 | g.227008240C>T | CA431671991 | COL4A4 | c.190-1G>A (n.190-1G>A) c.4587G>A (p.Gln1529=) c.4032G>A (p.Gln1344=) c.4398G>A (p.Gln1466=) c.4216+13808G>A (n.4216+13808G>A) c.4506G>A (p.Gln1502=) c.4479G>A (p.Gln1493=) c.4334-1G>A (n.4334-1G>A) c.4217-1G>A (n.4217-1G>A) c.2913G>A (p.Gln971=) n.4897G>A n.4526+13808G>A c.4470G>A (p.Gln1490=) n.4913G>A n.4660-1G>A n.4542+13808G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008241T>A | CA351140908 | COL4A4 | c.190-2A>T (n.190-2A>T) c.4586A>T (p.Gln1529Leu) c.4031A>T (p.Gln1344Leu) c.4397A>T (p.Gln1466Leu) c.4216+13807A>T (n.4216+13807A>T) c.4505A>T (p.Gln1502Leu) c.4478A>T (p.Gln1493Leu) c.4334-2A>T (n.4334-2A>T) c.4217-2A>T (n.4217-2A>T) c.2912A>T (p.Gln971Leu) n.4896A>T n.4526+13807A>T c.4469A>T (p.Gln1490Leu) n.4912A>T n.4660-2A>T n.4542+13807A>T | |
2 | g.227008241T>C | CA351140909 | COL4A4 | c.190-2A>G (n.190-2A>G) c.4586A>G (p.Gln1529Arg) c.4031A>G (p.Gln1344Arg) c.4397A>G (p.Gln1466Arg) c.4216+13807A>G (n.4216+13807A>G) c.4505A>G (p.Gln1502Arg) c.4478A>G (p.Gln1493Arg) c.4334-2A>G (n.4334-2A>G) c.4217-2A>G (n.4217-2A>G) c.2912A>G (p.Gln971Arg) n.4896A>G n.4526+13807A>G c.4469A>G (p.Gln1490Arg) n.4912A>G n.4660-2A>G n.4542+13807A>G | |
2 | g.227008241T>G | CA351140910 | COL4A4 | c.190-2A>C (n.190-2A>C) c.4586A>C (p.Gln1529Pro) c.4031A>C (p.Gln1344Pro) c.4397A>C (p.Gln1466Pro) c.4216+13807A>C (n.4216+13807A>C) c.4505A>C (p.Gln1502Pro) c.4478A>C (p.Gln1493Pro) c.4334-2A>C (n.4334-2A>C) c.4217-2A>C (n.4217-2A>C) c.2912A>C (p.Gln971Pro) n.4896A>C n.4526+13807A>C c.4469A>C (p.Gln1490Pro) n.4912A>C n.4660-2A>C n.4542+13807A>C | |
2 | g.227008242G>A | CA351140911 | COL4A4 | c.190-3C>T (n.190-3C>T) c.4585C>T (p.Gln1529Ter) c.4030C>T (p.Gln1344Ter) c.4396C>T (p.Gln1466Ter) c.4216+13806C>T (n.4216+13806C>T) c.4504C>T (p.Gln1502Ter) c.4477C>T (p.Gln1493Ter) c.4334-3C>T (n.4334-3C>T) c.4217-3C>T (n.4217-3C>T) c.2911C>T (p.Gln971Ter) n.4895C>T n.4526+13806C>T c.4468C>T (p.Gln1490Ter) n.4911C>T n.4660-3C>T n.4542+13806C>T | gnomAD v4 |
2 | g.227008242G>C | CA351140912 | COL4A4 | c.190-3C>G (n.190-3C>G) c.4585C>G (p.Gln1529Glu) c.4030C>G (p.Gln1344Glu) c.4396C>G (p.Gln1466Glu) c.4216+13806C>G (n.4216+13806C>G) c.4504C>G (p.Gln1502Glu) c.4477C>G (p.Gln1493Glu) c.4334-3C>G (n.4334-3C>G) c.4217-3C>G (n.4217-3C>G) c.2911C>G (p.Gln971Glu) n.4895C>G n.4526+13806C>G c.4468C>G (p.Gln1490Glu) n.4911C>G n.4660-3C>G n.4542+13806C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008242G= | CA1332723978 | COL4A4 | c.190-3C= (n.190-3C=) c.4585C= (p.Gln1529=) c.4030C= (p.Gln1344=) c.4396C= (p.Gln1466=) c.4216+13806C= (n.4216+13806C=) c.4504C= (p.Gln1502=) c.4477C= (p.Gln1493=) c.4334-3C= (n.4334-3C=) c.4217-3C= (n.4217-3C=) c.2911C= (p.Gln971=) n.4895C= n.4526+13806C= c.4468C= (p.Gln1490=) n.4911C= n.4660-3C= n.4542+13806C= | |
2 | g.227008242G>T | CA351140913 | COL4A4 | c.190-3C>A (n.190-3C>A) c.4585C>A (p.Gln1529Lys) c.4030C>A (p.Gln1344Lys) c.4396C>A (p.Gln1466Lys) c.4216+13806C>A (n.4216+13806C>A) c.4504C>A (p.Gln1502Lys) c.4477C>A (p.Gln1493Lys) c.4334-3C>A (n.4334-3C>A) c.4217-3C>A (n.4217-3C>A) c.2911C>A (p.Gln971Lys) n.4895C>A n.4526+13806C>A c.4468C>A (p.Gln1490Lys) n.4911C>A n.4660-3C>A n.4542+13806C>A | |
2 | g.227008243G>A | CA67238302 | COL4A4 | c.190-4C>T (n.190-4C>T) c.4584C>T (p.His1528=) c.4029C>T (p.His1343=) c.4395C>T (p.His1465=) c.4216+13805C>T (n.4216+13805C>T) c.4503C>T (p.His1501=) c.4476C>T (p.His1492=) c.4334-4C>T (n.4334-4C>T) c.4217-4C>T (n.4217-4C>T) c.2910C>T (p.His970=) n.4894C>T n.4526+13805C>T c.4467C>T (p.His1489=) n.4910C>T n.4660-4C>T n.4542+13805C>T | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.227008243G>C | CA351140914 | COL4A4 | c.190-4C>G (n.190-4C>G) c.4584C>G (p.His1528Gln) c.4029C>G (p.His1343Gln) c.4395C>G (p.His1465Gln) c.4216+13805C>G (n.4216+13805C>G) c.4503C>G (p.His1501Gln) c.4476C>G (p.His1492Gln) c.4334-4C>G (n.4334-4C>G) c.4217-4C>G (n.4217-4C>G) c.2910C>G (p.His970Gln) n.4894C>G n.4526+13805C>G c.4467C>G (p.His1489Gln) n.4910C>G n.4660-4C>G n.4542+13805C>G | |
2 | g.227008243G= | CA1332723979 | COL4A4 | c.190-4C= (n.190-4C=) c.4584C= (p.His1528=) c.4029C= (p.His1343=) c.4395C= (p.His1465=) c.4216+13805C= (n.4216+13805C=) c.4503C= (p.His1501=) c.4476C= (p.His1492=) c.4334-4C= (n.4334-4C=) c.4217-4C= (n.4217-4C=) c.2910C= (p.His970=) n.4894C= n.4526+13805C= c.4467C= (p.His1489=) n.4910C= n.4660-4C= n.4542+13805C= | |
2 | g.227008243G>T | CA351140915 | COL4A4 | c.190-4C>A (n.190-4C>A) c.4584C>A (p.His1528Gln) c.4029C>A (p.His1343Gln) c.4395C>A (p.His1465Gln) c.4216+13805C>A (n.4216+13805C>A) c.4503C>A (p.His1501Gln) c.4476C>A (p.His1492Gln) c.4334-4C>A (n.4334-4C>A) c.4217-4C>A (n.4217-4C>A) c.2910C>A (p.His970Gln) n.4894C>A n.4526+13805C>A c.4467C>A (p.His1489Gln) n.4910C>A n.4660-4C>A n.4542+13805C>A | |
2 | g.227008244T>A | CA351140918 | COL4A4 | c.190-5A>T (n.190-5A>T) c.4583A>T (p.His1528Leu) c.4028A>T (p.His1343Leu) c.4394A>T (p.His1465Leu) c.4216+13804A>T (n.4216+13804A>T) c.4502A>T (p.His1501Leu) c.4475A>T (p.His1492Leu) c.4334-5A>T (n.4334-5A>T) c.4217-5A>T (n.4217-5A>T) c.2909A>T (p.His970Leu) n.4893A>T n.4526+13804A>T c.4466A>T (p.His1489Leu) n.4909A>T n.4660-5A>T n.4542+13804A>T | |
2 | g.227008244T>C | CA351140916 | COL4A4 | c.190-5A>G (n.190-5A>G) c.4583A>G (p.His1528Arg) c.4028A>G (p.His1343Arg) c.4394A>G (p.His1465Arg) c.4216+13804A>G (n.4216+13804A>G) c.4502A>G (p.His1501Arg) c.4475A>G (p.His1492Arg) c.4334-5A>G (n.4334-5A>G) c.4217-5A>G (n.4217-5A>G) c.2909A>G (p.His970Arg) n.4893A>G n.4526+13804A>G c.4466A>G (p.His1489Arg) n.4909A>G n.4660-5A>G n.4542+13804A>G | dbSNP |
2 | g.227008244T>G | CA351140917 | COL4A4 | c.190-5A>C (n.190-5A>C) c.4583A>C (p.His1528Pro) c.4028A>C (p.His1343Pro) c.4394A>C (p.His1465Pro) c.4216+13804A>C (n.4216+13804A>C) c.4502A>C (p.His1501Pro) c.4475A>C (p.His1492Pro) c.4334-5A>C (n.4334-5A>C) c.4217-5A>C (n.4217-5A>C) c.2909A>C (p.His970Pro) n.4893A>C n.4526+13804A>C c.4466A>C (p.His1489Pro) n.4909A>C n.4660-5A>C n.4542+13804A>C | |
2 | g.227008244T= | CA1332723980 | COL4A4 | c.190-5A= (n.190-5A=) c.4583A= (p.His1528=) c.4028A= (p.His1343=) c.4394A= (p.His1465=) c.4216+13804A= (n.4216+13804A=) c.4502A= (p.His1501=) c.4475A= (p.His1492=) c.4334-5A= (n.4334-5A=) c.4217-5A= (n.4217-5A=) c.2909A= (p.His970=) n.4893A= n.4526+13804A= c.4466A= (p.His1489=) n.4909A= n.4660-5A= n.4542+13804A= | |
2 | g.227008245G>A | CA351140919 | COL4A4 | c.190-6C>T (n.190-6C>T) c.4582C>T (p.His1528Tyr) c.4027C>T (p.His1343Tyr) c.4393C>T (p.His1465Tyr) c.4216+13803C>T (n.4216+13803C>T) c.4501C>T (p.His1501Tyr) c.4474C>T (p.His1492Tyr) c.4334-6C>T (n.4334-6C>T) c.4217-6C>T (n.4217-6C>T) c.2908C>T (p.His970Tyr) n.4892C>T n.4526+13803C>T c.4465C>T (p.His1489Tyr) n.4908C>T n.4660-6C>T n.4542+13803C>T | |
2 | g.227008245G>C | CA351140920 | COL4A4 | c.190-6C>G (n.190-6C>G) c.4582C>G (p.His1528Asp) c.4027C>G (p.His1343Asp) c.4393C>G (p.His1465Asp) c.4216+13803C>G (n.4216+13803C>G) c.4501C>G (p.His1501Asp) c.4474C>G (p.His1492Asp) c.4334-6C>G (n.4334-6C>G) c.4217-6C>G (n.4217-6C>G) c.2908C>G (p.His970Asp) n.4892C>G n.4526+13803C>G c.4465C>G (p.His1489Asp) n.4908C>G n.4660-6C>G n.4542+13803C>G | |
2 | g.227008245G>T | CA351140921 | COL4A4 | c.190-6C>A (n.190-6C>A) c.4582C>A (p.His1528Asn) c.4027C>A (p.His1343Asn) c.4393C>A (p.His1465Asn) c.4216+13803C>A (n.4216+13803C>A) c.4501C>A (p.His1501Asn) c.4474C>A (p.His1492Asn) c.4334-6C>A (n.4334-6C>A) c.4217-6C>A (n.4217-6C>A) c.2908C>A (p.His970Asn) n.4892C>A n.4526+13803C>A c.4465C>A (p.His1489Asn) n.4908C>A n.4660-6C>A n.4542+13803C>A | |
2 | g.227008246G>A | CA431671992 | COL4A4 | c.190-7C>T (n.190-7C>T) c.4581C>T (p.Ile1527=) c.4026C>T (p.Ile1342=) c.4392C>T (p.Ile1464=) c.4216+13802C>T (n.4216+13802C>T) c.4500C>T (p.Ile1500=) c.4473C>T (p.Ile1491=) c.4334-7C>T (n.4334-7C>T) c.4217-7C>T (n.4217-7C>T) c.2907C>T (p.Ile969=) n.4891C>T n.4526+13802C>T c.4464C>T (p.Ile1488=) n.4907C>T n.4660-7C>T n.4542+13802C>T | |
2 | g.227008246G>C | CA351140922 | COL4A4 | c.190-7C>G (n.190-7C>G) c.4581C>G (p.Ile1527Met) c.4026C>G (p.Ile1342Met) c.4392C>G (p.Ile1464Met) c.4216+13802C>G (n.4216+13802C>G) c.4500C>G (p.Ile1500Met) c.4473C>G (p.Ile1491Met) c.4334-7C>G (n.4334-7C>G) c.4217-7C>G (n.4217-7C>G) c.2907C>G (p.Ile969Met) n.4891C>G n.4526+13802C>G c.4464C>G (p.Ile1488Met) n.4907C>G n.4660-7C>G n.4542+13802C>G | |
2 | g.227008246G>T | CA431671993 | COL4A4 | c.190-7C>A (n.190-7C>A) c.4581C>A (p.Ile1527=) c.4026C>A (p.Ile1342=) c.4392C>A (p.Ile1464=) c.4216+13802C>A (n.4216+13802C>A) c.4500C>A (p.Ile1500=) c.4473C>A (p.Ile1491=) c.4334-7C>A (n.4334-7C>A) c.4217-7C>A (n.4217-7C>A) c.2907C>A (p.Ile969=) n.4891C>A n.4526+13802C>A c.4464C>A (p.Ile1488=) n.4907C>A n.4660-7C>A n.4542+13802C>A | gnomAD v4 |
2 | g.227008247A>C | CA351140923 | COL4A4 | c.190-8T>G (n.190-8T>G) c.4580T>G (p.Ile1527Ser) c.4025T>G (p.Ile1342Ser) c.4391T>G (p.Ile1464Ser) c.4216+13801T>G (n.4216+13801T>G) c.4499T>G (p.Ile1500Ser) c.4472T>G (p.Ile1491Ser) c.4334-8T>G (n.4334-8T>G) c.4217-8T>G (n.4217-8T>G) c.2906T>G (p.Ile969Ser) n.4890T>G n.4526+13801T>G c.4463T>G (p.Ile1488Ser) n.4906T>G n.4660-8T>G n.4542+13801T>G | |
2 | g.227008247A>G | CA351140924 | COL4A4 | c.190-8T>C (n.190-8T>C) c.4580T>C (p.Ile1527Thr) c.4025T>C (p.Ile1342Thr) c.4391T>C (p.Ile1464Thr) c.4216+13801T>C (n.4216+13801T>C) c.4499T>C (p.Ile1500Thr) c.4472T>C (p.Ile1491Thr) c.4334-8T>C (n.4334-8T>C) c.4217-8T>C (n.4217-8T>C) c.2906T>C (p.Ile969Thr) n.4890T>C n.4526+13801T>C c.4463T>C (p.Ile1488Thr) n.4906T>C n.4660-8T>C n.4542+13801T>C | gnomAD v4 |
2 | g.227008247A>T | CA351140925 | COL4A4 | c.190-8T>A (n.190-8T>A) c.4580T>A (p.Ile1527Asn) c.4025T>A (p.Ile1342Asn) c.4391T>A (p.Ile1464Asn) c.4216+13801T>A (n.4216+13801T>A) c.4499T>A (p.Ile1500Asn) c.4472T>A (p.Ile1491Asn) c.4334-8T>A (n.4334-8T>A) c.4217-8T>A (n.4217-8T>A) c.2906T>A (p.Ile969Asn) n.4890T>A n.4526+13801T>A c.4463T>A (p.Ile1488Asn) n.4906T>A n.4660-8T>A n.4542+13801T>A | |
2 | g.227008248T>A | CA351140926 | COL4A4 | c.190-9A>T (n.190-9A>T) c.4579A>T (p.Ile1527Phe) c.4024A>T (p.Ile1342Phe) c.4390A>T (p.Ile1464Phe) c.4216+13800A>T (n.4216+13800A>T) c.4498A>T (p.Ile1500Phe) c.4471A>T (p.Ile1491Phe) c.4334-9A>T (n.4334-9A>T) c.4217-9A>T (n.4217-9A>T) c.2905A>T (p.Ile969Phe) n.4889A>T n.4526+13800A>T c.4462A>T (p.Ile1488Phe) n.4905A>T n.4660-9A>T n.4542+13800A>T | |
2 | g.227008248T>C | CA351140927 | COL4A4 | c.190-9A>G (n.190-9A>G) c.4579A>G (p.Ile1527Val) c.4024A>G (p.Ile1342Val) c.4390A>G (p.Ile1464Val) c.4216+13800A>G (n.4216+13800A>G) c.4498A>G (p.Ile1500Val) c.4471A>G (p.Ile1491Val) c.4334-9A>G (n.4334-9A>G) c.4217-9A>G (n.4217-9A>G) c.2905A>G (p.Ile969Val) n.4889A>G n.4526+13800A>G c.4462A>G (p.Ile1488Val) n.4905A>G n.4660-9A>G n.4542+13800A>G | |
2 | g.227008248T>G | CA351140928 | COL4A4 | c.190-9A>C (n.190-9A>C) c.4579A>C (p.Ile1527Leu) c.4024A>C (p.Ile1342Leu) c.4390A>C (p.Ile1464Leu) c.4216+13800A>C (n.4216+13800A>C) c.4498A>C (p.Ile1500Leu) c.4471A>C (p.Ile1491Leu) c.4334-9A>C (n.4334-9A>C) c.4217-9A>C (n.4217-9A>C) c.2905A>C (p.Ile969Leu) n.4889A>C n.4526+13800A>C c.4462A>C (p.Ile1488Leu) n.4905A>C n.4660-9A>C n.4542+13800A>C | |
2 | g.227008249G>A | CA2144119 | COL4A4 | c.190-10C>T (n.190-10C>T) c.4578C>T (p.Asn1526=) c.4023C>T (p.Asn1341=) c.4389C>T (p.Asn1463=) c.4216+13799C>T (n.4216+13799C>T) c.4497C>T (p.Asn1499=) c.4470C>T (p.Asn1490=) c.4334-10C>T (n.4334-10C>T) c.4217-10C>T (n.4217-10C>T) c.2904C>T (p.Asn968=) n.4888C>T n.4526+13799C>T c.4461C>T (p.Asn1487=) n.4904C>T n.4660-10C>T n.4542+13799C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008249G>C | CA351140929 | COL4A4 | c.190-10C>G (n.190-10C>G) c.4578C>G (p.Asn1526Lys) c.4023C>G (p.Asn1341Lys) c.4389C>G (p.Asn1463Lys) c.4216+13799C>G (n.4216+13799C>G) c.4497C>G (p.Asn1499Lys) c.4470C>G (p.Asn1490Lys) c.4334-10C>G (n.4334-10C>G) c.4217-10C>G (n.4217-10C>G) c.2904C>G (p.Asn968Lys) n.4888C>G n.4526+13799C>G c.4461C>G (p.Asn1487Lys) n.4904C>G n.4660-10C>G n.4542+13799C>G | |
2 | g.227008249G= | CA1332723981 | COL4A4 | c.190-10C= (n.190-10C=) c.4578C= (p.Asn1526=) c.4023C= (p.Asn1341=) c.4389C= (p.Asn1463=) c.4216+13799C= (n.4216+13799C=) c.4497C= (p.Asn1499=) c.4470C= (p.Asn1490=) c.4334-10C= (n.4334-10C=) c.4217-10C= (n.4217-10C=) c.2904C= (p.Asn968=) n.4888C= n.4526+13799C= c.4461C= (p.Asn1487=) n.4904C= n.4660-10C= n.4542+13799C= | |
2 | g.227008249G>T | CA351140930 | COL4A4 | c.190-10C>A (n.190-10C>A) c.4578C>A (p.Asn1526Lys) c.4023C>A (p.Asn1341Lys) c.4389C>A (p.Asn1463Lys) c.4216+13799C>A (n.4216+13799C>A) c.4497C>A (p.Asn1499Lys) c.4470C>A (p.Asn1490Lys) c.4334-10C>A (n.4334-10C>A) c.4217-10C>A (n.4217-10C>A) c.2904C>A (p.Asn968Lys) n.4888C>A n.4526+13799C>A c.4461C>A (p.Asn1487Lys) n.4904C>A n.4660-10C>A n.4542+13799C>A | |
2 | g.227008250T>A | CA351140933 | COL4A4 | c.190-11A>T (n.190-11A>T) c.4577A>T (p.Asn1526Ile) c.4022A>T (p.Asn1341Ile) c.4388A>T (p.Asn1463Ile) c.4216+13798A>T (n.4216+13798A>T) c.4496A>T (p.Asn1499Ile) c.4469A>T (p.Asn1490Ile) c.4334-11A>T (n.4334-11A>T) c.4217-11A>T (n.4217-11A>T) c.2903A>T (p.Asn968Ile) n.4887A>T n.4526+13798A>T c.4460A>T (p.Asn1487Ile) n.4903A>T n.4660-11A>T n.4542+13798A>T | |
2 | g.227008250T>C | CA351140932 | COL4A4 | c.190-11A>G (n.190-11A>G) c.4577A>G (p.Asn1526Ser) c.4022A>G (p.Asn1341Ser) c.4388A>G (p.Asn1463Ser) c.4216+13798A>G (n.4216+13798A>G) c.4496A>G (p.Asn1499Ser) c.4469A>G (p.Asn1490Ser) c.4334-11A>G (n.4334-11A>G) c.4217-11A>G (n.4217-11A>G) c.2903A>G (p.Asn968Ser) n.4887A>G n.4526+13798A>G c.4460A>G (p.Asn1487Ser) n.4903A>G n.4660-11A>G n.4542+13798A>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.227008250T>G | CA351140931 | COL4A4 | c.190-11A>C (n.190-11A>C) c.4577A>C (p.Asn1526Thr) c.4022A>C (p.Asn1341Thr) c.4388A>C (p.Asn1463Thr) c.4216+13798A>C (n.4216+13798A>C) c.4496A>C (p.Asn1499Thr) c.4469A>C (p.Asn1490Thr) c.4334-11A>C (n.4334-11A>C) c.4217-11A>C (n.4217-11A>C) c.2903A>C (p.Asn968Thr) n.4887A>C n.4526+13798A>C c.4460A>C (p.Asn1487Thr) n.4903A>C n.4660-11A>C n.4542+13798A>C | dbSNP |
2 | g.227008250T= | CA1332723982 | COL4A4 | c.190-11A= (n.190-11A=) c.4577A= (p.Asn1526=) c.4022A= (p.Asn1341=) c.4388A= (p.Asn1463=) c.4216+13798A= (n.4216+13798A=) c.4496A= (p.Asn1499=) c.4469A= (p.Asn1490=) c.4334-11A= (n.4334-11A=) c.4217-11A= (n.4217-11A=) c.2903A= (p.Asn968=) n.4887A= n.4526+13798A= c.4460A= (p.Asn1487=) n.4903A= n.4660-11A= n.4542+13798A= | |
2 | g.227008251T>A | CA351140934 | COL4A4 | c.190-12A>T (n.190-12A>T) c.4576A>T (p.Asn1526Tyr) c.4021A>T (p.Asn1341Tyr) c.4387A>T (p.Asn1463Tyr) c.4216+13797A>T (n.4216+13797A>T) c.4495A>T (p.Asn1499Tyr) c.4468A>T (p.Asn1490Tyr) c.4334-12A>T (n.4334-12A>T) c.4217-12A>T (n.4217-12A>T) c.2902A>T (p.Asn968Tyr) n.4886A>T n.4526+13797A>T c.4459A>T (p.Asn1487Tyr) n.4902A>T n.4660-12A>T n.4542+13797A>T | |
2 | g.227008251T>C | CA351140935 | COL4A4 | c.190-12A>G (n.190-12A>G) c.4576A>G (p.Asn1526Asp) c.4021A>G (p.Asn1341Asp) c.4387A>G (p.Asn1463Asp) c.4216+13797A>G (n.4216+13797A>G) c.4495A>G (p.Asn1499Asp) c.4468A>G (p.Asn1490Asp) c.4334-12A>G (n.4334-12A>G) c.4217-12A>G (n.4217-12A>G) c.2902A>G (p.Asn968Asp) n.4886A>G n.4526+13797A>G c.4459A>G (p.Asn1487Asp) n.4902A>G n.4660-12A>G n.4542+13797A>G | gnomAD v4 |
2 | g.227008251T>G | CA351140936 | COL4A4 | c.190-12A>C (n.190-12A>C) c.4576A>C (p.Asn1526His) c.4021A>C (p.Asn1341His) c.4387A>C (p.Asn1463His) c.4216+13797A>C (n.4216+13797A>C) c.4495A>C (p.Asn1499His) c.4468A>C (p.Asn1490His) c.4334-12A>C (n.4334-12A>C) c.4217-12A>C (n.4217-12A>C) c.2902A>C (p.Asn968His) n.4886A>C n.4526+13797A>C c.4459A>C (p.Asn1487His) n.4902A>C n.4660-12A>C n.4542+13797A>C | gnomAD v4 |
2 | g.227008252G>A | CA431671994 | COL4A4 | c.190-13C>T (n.190-13C>T) c.4575C>T (p.Cys1525=) c.4020C>T (p.Cys1340=) c.4386C>T (p.Cys1462=) c.4216+13796C>T (n.4216+13796C>T) c.4494C>T (p.Cys1498=) c.4467C>T (p.Cys1489=) c.4334-13C>T (n.4334-13C>T) c.4217-13C>T (n.4217-13C>T) c.2901C>T (p.Cys967=) n.4885C>T n.4526+13796C>T c.4458C>T (p.Cys1486=) n.4901C>T n.4660-13C>T n.4542+13796C>T | |
2 | g.227008252G>C | CA351140937 | COL4A4 | c.190-13C>G (n.190-13C>G) c.4575C>G (p.Cys1525Trp) c.4020C>G (p.Cys1340Trp) c.4386C>G (p.Cys1462Trp) c.4216+13796C>G (n.4216+13796C>G) c.4494C>G (p.Cys1498Trp) c.4467C>G (p.Cys1489Trp) c.4334-13C>G (n.4334-13C>G) c.4217-13C>G (n.4217-13C>G) c.2901C>G (p.Cys967Trp) n.4885C>G n.4526+13796C>G c.4458C>G (p.Cys1486Trp) n.4901C>G n.4660-13C>G n.4542+13796C>G | |
2 | g.227008252G>T | CA351140938 | COL4A4 | c.190-13C>A (n.190-13C>A) c.4575C>A (p.Cys1525Ter) c.4020C>A (p.Cys1340Ter) c.4386C>A (p.Cys1462Ter) c.4216+13796C>A (n.4216+13796C>A) c.4494C>A (p.Cys1498Ter) c.4467C>A (p.Cys1489Ter) c.4334-13C>A (n.4334-13C>A) c.4217-13C>A (n.4217-13C>A) c.2901C>A (p.Cys967Ter) n.4885C>A n.4526+13796C>A c.4458C>A (p.Cys1486Ter) n.4901C>A n.4660-13C>A n.4542+13796C>A | |
2 | g.227008253C>A | CA351140939 | COL4A4 | c.190-14G>T (n.190-14G>T) c.4574G>T (p.Cys1525Phe) c.4019G>T (p.Cys1340Phe) c.4385G>T (p.Cys1462Phe) c.4216+13795G>T (n.4216+13795G>T) c.4493G>T (p.Cys1498Phe) c.4466G>T (p.Cys1489Phe) c.4334-14G>T (n.4334-14G>T) c.4217-14G>T (n.4217-14G>T) c.2900G>T (p.Cys967Phe) n.4884G>T n.4526+13795G>T c.4457G>T (p.Cys1486Phe) n.4900G>T n.4660-14G>T n.4542+13795G>T | |
2 | g.227008253C>G | CA351140940 | COL4A4 | c.190-14G>C (n.190-14G>C) c.4574G>C (p.Cys1525Ser) c.4019G>C (p.Cys1340Ser) c.4385G>C (p.Cys1462Ser) c.4216+13795G>C (n.4216+13795G>C) c.4493G>C (p.Cys1498Ser) c.4466G>C (p.Cys1489Ser) c.4334-14G>C (n.4334-14G>C) c.4217-14G>C (n.4217-14G>C) c.2900G>C (p.Cys967Ser) n.4884G>C n.4526+13795G>C c.4457G>C (p.Cys1486Ser) n.4900G>C n.4660-14G>C n.4542+13795G>C | gnomAD v4 |
2 | g.227008253C>T | CA351140941 | COL4A4 | c.190-14G>A (n.190-14G>A) c.4574G>A (p.Cys1525Tyr) c.4019G>A (p.Cys1340Tyr) c.4385G>A (p.Cys1462Tyr) c.4216+13795G>A (n.4216+13795G>A) c.4493G>A (p.Cys1498Tyr) c.4466G>A (p.Cys1489Tyr) c.4334-14G>A (n.4334-14G>A) c.4217-14G>A (n.4217-14G>A) c.2900G>A (p.Cys967Tyr) n.4884G>A n.4526+13795G>A c.4457G>A (p.Cys1486Tyr) n.4900G>A n.4660-14G>A n.4542+13795G>A | |
2 | g.227008254A>C | CA351140942 | COL4A4 | c.190-15T>G (n.190-15T>G) c.4573T>G (p.Cys1525Gly) c.4018T>G (p.Cys1340Gly) c.4384T>G (p.Cys1462Gly) c.4216+13794T>G (n.4216+13794T>G) c.4492T>G (p.Cys1498Gly) c.4465T>G (p.Cys1489Gly) c.4334-15T>G (n.4334-15T>G) c.4217-15T>G (n.4217-15T>G) c.2899T>G (p.Cys967Gly) n.4883T>G n.4526+13794T>G c.4456T>G (p.Cys1486Gly) n.4899T>G n.4660-15T>G n.4542+13794T>G | |
2 | g.227008254A>G | CA351140943 | COL4A4 | c.190-15T>C (n.190-15T>C) c.4573T>C (p.Cys1525Arg) c.4018T>C (p.Cys1340Arg) c.4384T>C (p.Cys1462Arg) c.4216+13794T>C (n.4216+13794T>C) c.4492T>C (p.Cys1498Arg) c.4465T>C (p.Cys1489Arg) c.4334-15T>C (n.4334-15T>C) c.4217-15T>C (n.4217-15T>C) c.2899T>C (p.Cys967Arg) n.4883T>C n.4526+13794T>C c.4456T>C (p.Cys1486Arg) n.4899T>C n.4660-15T>C n.4542+13794T>C | |
2 | g.227008254A>T | CA351140944 | COL4A4 | c.190-15T>A (n.190-15T>A) c.4573T>A (p.Cys1525Ser) c.4018T>A (p.Cys1340Ser) c.4384T>A (p.Cys1462Ser) c.4216+13794T>A (n.4216+13794T>A) c.4492T>A (p.Cys1498Ser) c.4465T>A (p.Cys1489Ser) c.4334-15T>A (n.4334-15T>A) c.4217-15T>A (n.4217-15T>A) c.2899T>A (p.Cys967Ser) n.4883T>A n.4526+13794T>A c.4456T>A (p.Cys1486Ser) n.4899T>A n.4660-15T>A n.4542+13794T>A | |
2 | g.227008255G>A | CA431671995 | COL4A4 | c.190-16C>T (n.190-16C>T) c.4572C>T (p.Tyr1524=) c.4017C>T (p.Tyr1339=) c.4383C>T (p.Tyr1461=) c.4216+13793C>T (n.4216+13793C>T) c.4491C>T (p.Tyr1497=) c.4464C>T (p.Tyr1488=) c.4334-16C>T (n.4334-16C>T) c.4217-16C>T (n.4217-16C>T) c.2898C>T (p.Tyr966=) n.4882C>T n.4526+13793C>T c.4455C>T (p.Tyr1485=) n.4898C>T n.4660-16C>T n.4542+13793C>T | ClinVar |
2 | g.227008255G>C | CA351140945 | COL4A4 | c.190-16C>G (n.190-16C>G) c.4572C>G (p.Tyr1524Ter) c.4017C>G (p.Tyr1339Ter) c.4383C>G (p.Tyr1461Ter) c.4216+13793C>G (n.4216+13793C>G) c.4491C>G (p.Tyr1497Ter) c.4464C>G (p.Tyr1488Ter) c.4334-16C>G (n.4334-16C>G) c.4217-16C>G (n.4217-16C>G) c.2898C>G (p.Tyr966Ter) n.4882C>G n.4526+13793C>G c.4455C>G (p.Tyr1485Ter) n.4898C>G n.4660-16C>G n.4542+13793C>G | |
2 | g.227008255G>T | CA351140946 | COL4A4 | c.190-16C>A (n.190-16C>A) c.4572C>A (p.Tyr1524Ter) c.4017C>A (p.Tyr1339Ter) c.4383C>A (p.Tyr1461Ter) c.4216+13793C>A (n.4216+13793C>A) c.4491C>A (p.Tyr1497Ter) c.4464C>A (p.Tyr1488Ter) c.4334-16C>A (n.4334-16C>A) c.4217-16C>A (n.4217-16C>A) c.2898C>A (p.Tyr966Ter) n.4882C>A n.4526+13793C>A c.4455C>A (p.Tyr1485Ter) n.4898C>A n.4660-16C>A n.4542+13793C>A | gnomAD v4 |
2 | g.227008256T>A | CA351140949 | COL4A4 | c.190-17A>T (n.190-17A>T) c.4571A>T (p.Tyr1524Phe) c.4016A>T (p.Tyr1339Phe) c.4382A>T (p.Tyr1461Phe) c.4216+13792A>T (n.4216+13792A>T) c.4490A>T (p.Tyr1497Phe) c.4463A>T (p.Tyr1488Phe) c.4334-17A>T (n.4334-17A>T) c.4217-17A>T (n.4217-17A>T) c.2897A>T (p.Tyr966Phe) n.4881A>T n.4526+13792A>T c.4454A>T (p.Tyr1485Phe) n.4897A>T n.4660-17A>T n.4542+13792A>T | |
2 | g.227008256T>C | CA351140948 | COL4A4 | c.190-17A>G (n.190-17A>G) c.4571A>G (p.Tyr1524Cys) c.4016A>G (p.Tyr1339Cys) c.4382A>G (p.Tyr1461Cys) c.4216+13792A>G (n.4216+13792A>G) c.4490A>G (p.Tyr1497Cys) c.4463A>G (p.Tyr1488Cys) c.4334-17A>G (n.4334-17A>G) c.4217-17A>G (n.4217-17A>G) c.2897A>G (p.Tyr966Cys) n.4881A>G n.4526+13792A>G c.4454A>G (p.Tyr1485Cys) n.4897A>G n.4660-17A>G n.4542+13792A>G | |
2 | g.227008256T>G | CA351140947 | COL4A4 | c.190-17A>C (n.190-17A>C) c.4571A>C (p.Tyr1524Ser) c.4016A>C (p.Tyr1339Ser) c.4382A>C (p.Tyr1461Ser) c.4216+13792A>C (n.4216+13792A>C) c.4490A>C (p.Tyr1497Ser) c.4463A>C (p.Tyr1488Ser) c.4334-17A>C (n.4334-17A>C) c.4217-17A>C (n.4217-17A>C) c.2897A>C (p.Tyr966Ser) n.4881A>C n.4526+13792A>C c.4454A>C (p.Tyr1485Ser) n.4897A>C n.4660-17A>C n.4542+13792A>C | |
2 | g.227008257A>C | CA351140950 | COL4A4 | c.190-18T>G (n.190-18T>G) c.4570T>G (p.Tyr1524Asp) c.4015T>G (p.Tyr1339Asp) c.4381T>G (p.Tyr1461Asp) c.4216+13791T>G (n.4216+13791T>G) c.4489T>G (p.Tyr1497Asp) c.4462T>G (p.Tyr1488Asp) c.4334-18T>G (n.4334-18T>G) c.4217-18T>G (n.4217-18T>G) c.2896T>G (p.Tyr966Asp) n.4880T>G n.4526+13791T>G c.4453T>G (p.Tyr1485Asp) n.4896T>G n.4660-18T>G n.4542+13791T>G | |
2 | g.227008257A>G | CA351140951 | COL4A4 | c.190-18T>C (n.190-18T>C) c.4570T>C (p.Tyr1524His) c.4015T>C (p.Tyr1339His) c.4381T>C (p.Tyr1461His) c.4216+13791T>C (n.4216+13791T>C) c.4489T>C (p.Tyr1497His) c.4462T>C (p.Tyr1488His) c.4334-18T>C (n.4334-18T>C) c.4217-18T>C (n.4217-18T>C) c.2896T>C (p.Tyr966His) n.4880T>C n.4526+13791T>C c.4453T>C (p.Tyr1485His) n.4896T>C n.4660-18T>C n.4542+13791T>C | |
2 | g.227008257A>T | CA351140952 | COL4A4 | c.190-18T>A (n.190-18T>A) c.4570T>A (p.Tyr1524Asn) c.4015T>A (p.Tyr1339Asn) c.4381T>A (p.Tyr1461Asn) c.4216+13791T>A (n.4216+13791T>A) c.4489T>A (p.Tyr1497Asn) c.4462T>A (p.Tyr1488Asn) c.4334-18T>A (n.4334-18T>A) c.4217-18T>A (n.4217-18T>A) c.2896T>A (p.Tyr966Asn) n.4880T>A n.4526+13791T>A c.4453T>A (p.Tyr1485Asn) n.4896T>A n.4660-18T>A n.4542+13791T>A | gnomAD v4 |
2 | g.227008258G>A | CA431671996 | COL4A4 | c.190-19C>T (n.190-19C>T) c.4569C>T (p.Ala1523=) c.4014C>T (p.Ala1338=) c.4380C>T (p.Ala1460=) c.4216+13790C>T (n.4216+13790C>T) c.4488C>T (p.Ala1496=) c.4461C>T (p.Ala1487=) c.4334-19C>T (n.4334-19C>T) c.4217-19C>T (n.4217-19C>T) c.2895C>T (p.Ala965=) n.4879C>T n.4526+13790C>T c.4452C>T (p.Ala1484=) n.4895C>T n.4660-19C>T n.4542+13790C>T | gnomAD v4 |
2 | g.227008258G>C | CA431671997 | COL4A4 | c.190-19C>G (n.190-19C>G) c.4569C>G (p.Ala1523=) c.4014C>G (p.Ala1338=) c.4380C>G (p.Ala1460=) c.4216+13790C>G (n.4216+13790C>G) c.4488C>G (p.Ala1496=) c.4461C>G (p.Ala1487=) c.4334-19C>G (n.4334-19C>G) c.4217-19C>G (n.4217-19C>G) c.2895C>G (p.Ala965=) n.4879C>G n.4526+13790C>G c.4452C>G (p.Ala1484=) n.4895C>G n.4660-19C>G n.4542+13790C>G | |
2 | g.227008258G>T | CA431671998 | COL4A4 | c.190-19C>A (n.190-19C>A) c.4569C>A (p.Ala1523=) c.4014C>A (p.Ala1338=) c.4380C>A (p.Ala1460=) c.4216+13790C>A (n.4216+13790C>A) c.4488C>A (p.Ala1496=) c.4461C>A (p.Ala1487=) c.4334-19C>A (n.4334-19C>A) c.4217-19C>A (n.4217-19C>A) c.2895C>A (p.Ala965=) n.4879C>A n.4526+13790C>A c.4452C>A (p.Ala1484=) n.4895C>A n.4660-19C>A n.4542+13790C>A | |
2 | g.227008259G>A | CA351140953 | COL4A4 | c.190-20C>T (n.190-20C>T) c.4568C>T (p.Ala1523Val) c.4013C>T (p.Ala1338Val) c.4379C>T (p.Ala1460Val) c.4216+13789C>T (n.4216+13789C>T) c.4487C>T (p.Ala1496Val) c.4460C>T (p.Ala1487Val) c.4334-20C>T (n.4334-20C>T) c.4217-20C>T (n.4217-20C>T) c.2894C>T (p.Ala965Val) n.4878C>T n.4526+13789C>T c.4451C>T (p.Ala1484Val) n.4894C>T n.4660-20C>T n.4542+13789C>T | |
2 | g.227008259G>C | CA351140954 | COL4A4 | c.190-20C>G (n.190-20C>G) c.4568C>G (p.Ala1523Gly) c.4013C>G (p.Ala1338Gly) c.4379C>G (p.Ala1460Gly) c.4216+13789C>G (n.4216+13789C>G) c.4487C>G (p.Ala1496Gly) c.4460C>G (p.Ala1487Gly) c.4334-20C>G (n.4334-20C>G) c.4217-20C>G (n.4217-20C>G) c.2894C>G (p.Ala965Gly) n.4878C>G n.4526+13789C>G c.4451C>G (p.Ala1484Gly) n.4894C>G n.4660-20C>G n.4542+13789C>G | |
2 | g.227008259G>T | CA351140955 | COL4A4 | c.190-20C>A (n.190-20C>A) c.4568C>A (p.Ala1523Asp) c.4013C>A (p.Ala1338Asp) c.4379C>A (p.Ala1460Asp) c.4216+13789C>A (n.4216+13789C>A) c.4487C>A (p.Ala1496Asp) c.4460C>A (p.Ala1487Asp) c.4334-20C>A (n.4334-20C>A) c.4217-20C>A (n.4217-20C>A) c.2894C>A (p.Ala965Asp) n.4878C>A n.4526+13789C>A c.4451C>A (p.Ala1484Asp) n.4894C>A n.4660-20C>A n.4542+13789C>A | |
2 | g.227008260C>A | CA351140956 | COL4A4 | c.190-21G>T (n.190-21G>T) c.4567G>T (p.Ala1523Ser) c.4012G>T (p.Ala1338Ser) c.4378G>T (p.Ala1460Ser) c.4216+13788G>T (n.4216+13788G>T) c.4486G>T (p.Ala1496Ser) c.4459G>T (p.Ala1487Ser) c.4334-21G>T (n.4334-21G>T) c.4217-21G>T (n.4217-21G>T) c.2893G>T (p.Ala965Ser) n.4877G>T n.4526+13788G>T c.4450G>T (p.Ala1484Ser) n.4893G>T n.4660-21G>T n.4542+13788G>T | |
2 | g.227008260C= | CA1332723983 | COL4A4 | c.190-21G= (n.190-21G=) c.4567G= (p.Ala1523=) c.4012G= (p.Ala1338=) c.4378G= (p.Ala1460=) c.4216+13788G= (n.4216+13788G=) c.4486G= (p.Ala1496=) c.4459G= (p.Ala1487=) c.4334-21G= (n.4334-21G=) c.4217-21G= (n.4217-21G=) c.2893G= (p.Ala965=) n.4877G= n.4526+13788G= c.4450G= (p.Ala1484=) n.4893G= n.4660-21G= n.4542+13788G= | |
2 | g.227008260C>G | CA351140957 | COL4A4 | c.190-21G>C (n.190-21G>C) c.4567G>C (p.Ala1523Pro) c.4012G>C (p.Ala1338Pro) c.4378G>C (p.Ala1460Pro) c.4216+13788G>C (n.4216+13788G>C) c.4486G>C (p.Ala1496Pro) c.4459G>C (p.Ala1487Pro) c.4334-21G>C (n.4334-21G>C) c.4217-21G>C (n.4217-21G>C) c.2893G>C (p.Ala965Pro) n.4877G>C n.4526+13788G>C c.4450G>C (p.Ala1484Pro) n.4893G>C n.4660-21G>C n.4542+13788G>C | |
2 | g.227008260C>T | CA351140958 | COL4A4 | c.190-21G>A (n.190-21G>A) c.4567G>A (p.Ala1523Thr) c.4012G>A (p.Ala1338Thr) c.4378G>A (p.Ala1460Thr) c.4216+13788G>A (n.4216+13788G>A) c.4486G>A (p.Ala1496Thr) c.4459G>A (p.Ala1487Thr) c.4334-21G>A (n.4334-21G>A) c.4217-21G>A (n.4217-21G>A) c.2893G>A (p.Ala965Thr) n.4877G>A n.4526+13788G>A c.4450G>A (p.Ala1484Thr) n.4893G>A n.4660-21G>A n.4542+13788G>A | dbSNP gnomAD v4 |
2 | g.227008261A= | CA1332723984 | COL4A4 | c.190-22T= (n.190-22T=) c.4566T= (p.Phe1522=) c.4011T= (p.Phe1337=) c.4377T= (p.Phe1459=) c.4216+13787T= (n.4216+13787T=) c.4485T= (p.Phe1495=) c.4458T= (p.Phe1486=) c.4334-22T= (n.4334-22T=) c.4217-22T= (n.4217-22T=) c.2892T= (p.Phe964=) n.4876T= n.4526+13787T= c.4449T= (p.Phe1483=) n.4892T= n.4660-22T= n.4542+13787T= | |
2 | g.227008261A>C | CA351140959 | COL4A4 | c.190-22T>G (n.190-22T>G) c.4566T>G (p.Phe1522Leu) c.4011T>G (p.Phe1337Leu) c.4377T>G (p.Phe1459Leu) c.4216+13787T>G (n.4216+13787T>G) c.4485T>G (p.Phe1495Leu) c.4458T>G (p.Phe1486Leu) c.4334-22T>G (n.4334-22T>G) c.4217-22T>G (n.4217-22T>G) c.2892T>G (p.Phe964Leu) n.4876T>G n.4526+13787T>G c.4449T>G (p.Phe1483Leu) n.4892T>G n.4660-22T>G n.4542+13787T>G | |
2 | g.227008261A>G | CA431671999 | COL4A4 | c.190-22T>C (n.190-22T>C) c.4566T>C (p.Phe1522=) c.4011T>C (p.Phe1337=) c.4377T>C (p.Phe1459=) c.4216+13787T>C (n.4216+13787T>C) c.4485T>C (p.Phe1495=) c.4458T>C (p.Phe1486=) c.4334-22T>C (n.4334-22T>C) c.4217-22T>C (n.4217-22T>C) c.2892T>C (p.Phe964=) n.4876T>C n.4526+13787T>C c.4449T>C (p.Phe1483=) n.4892T>C n.4660-22T>C n.4542+13787T>C | dbSNP |
2 | g.227008261A>T | CA351140960 | COL4A4 | c.190-22T>A (n.190-22T>A) c.4566T>A (p.Phe1522Leu) c.4011T>A (p.Phe1337Leu) c.4377T>A (p.Phe1459Leu) c.4216+13787T>A (n.4216+13787T>A) c.4485T>A (p.Phe1495Leu) c.4458T>A (p.Phe1486Leu) c.4334-22T>A (n.4334-22T>A) c.4217-22T>A (n.4217-22T>A) c.2892T>A (p.Phe964Leu) n.4876T>A n.4526+13787T>A c.4449T>A (p.Phe1483Leu) n.4892T>A n.4660-22T>A n.4542+13787T>A | |
2 | g.227008262A= | CA1332723985 | COL4A4 | c.190-23T= (n.190-23T=) c.4565T= (p.Phe1522=) c.4010T= (p.Phe1337=) c.4376T= (p.Phe1459=) c.4216+13786T= (n.4216+13786T=) c.4484T= (p.Phe1495=) c.4457T= (p.Phe1486=) c.4334-23T= (n.4334-23T=) c.4217-23T= (n.4217-23T=) c.2891T= (p.Phe964=) n.4875T= n.4526+13786T= c.4448T= (p.Phe1483=) n.4891T= n.4660-23T= n.4542+13786T= | |
2 | g.227008262A>C | CA351140961 | COL4A4 | c.190-23T>G (n.190-23T>G) c.4565T>G (p.Phe1522Cys) c.4010T>G (p.Phe1337Cys) c.4376T>G (p.Phe1459Cys) c.4216+13786T>G (n.4216+13786T>G) c.4484T>G (p.Phe1495Cys) c.4457T>G (p.Phe1486Cys) c.4334-23T>G (n.4334-23T>G) c.4217-23T>G (n.4217-23T>G) c.2891T>G (p.Phe964Cys) n.4875T>G n.4526+13786T>G c.4448T>G (p.Phe1483Cys) n.4891T>G n.4660-23T>G n.4542+13786T>G | |
2 | g.227008262A>G | CA351140962 | COL4A4 | c.190-23T>C (n.190-23T>C) c.4565T>C (p.Phe1522Ser) c.4010T>C (p.Phe1337Ser) c.4376T>C (p.Phe1459Ser) c.4216+13786T>C (n.4216+13786T>C) c.4484T>C (p.Phe1495Ser) c.4457T>C (p.Phe1486Ser) c.4334-23T>C (n.4334-23T>C) c.4217-23T>C (n.4217-23T>C) c.2891T>C (p.Phe964Ser) n.4875T>C n.4526+13786T>C c.4448T>C (p.Phe1483Ser) n.4891T>C n.4660-23T>C n.4542+13786T>C | dbSNP gnomAD v4 |
2 | g.227008262A>T | CA351140963 | COL4A4 | c.190-23T>A (n.190-23T>A) c.4565T>A (p.Phe1522Tyr) c.4010T>A (p.Phe1337Tyr) c.4376T>A (p.Phe1459Tyr) c.4216+13786T>A (n.4216+13786T>A) c.4484T>A (p.Phe1495Tyr) c.4457T>A (p.Phe1486Tyr) c.4334-23T>A (n.4334-23T>A) c.4217-23T>A (n.4217-23T>A) c.2891T>A (p.Phe964Tyr) n.4875T>A n.4526+13786T>A c.4448T>A (p.Phe1483Tyr) n.4891T>A n.4660-23T>A n.4542+13786T>A | |
2 | g.227008263A= | CA1332723986 | COL4A4 | c.190-24T= (n.190-24T=) c.4564T= (p.Phe1522=) c.4009T= (p.Phe1337=) c.4375T= (p.Phe1459=) c.4216+13785T= (n.4216+13785T=) c.4483T= (p.Phe1495=) c.4456T= (p.Phe1486=) c.4334-24T= (n.4334-24T=) c.4217-24T= (n.4217-24T=) c.2890T= (p.Phe964=) n.4874T= n.4526+13785T= c.4447T= (p.Phe1483=) n.4890T= n.4660-24T= n.4542+13785T= | |
2 | g.227008263A>C | CA351140966 | COL4A4 | c.190-24T>G (n.190-24T>G) c.4564T>G (p.Phe1522Val) c.4009T>G (p.Phe1337Val) c.4375T>G (p.Phe1459Val) c.4216+13785T>G (n.4216+13785T>G) c.4483T>G (p.Phe1495Val) c.4456T>G (p.Phe1486Val) c.4334-24T>G (n.4334-24T>G) c.4217-24T>G (n.4217-24T>G) c.2890T>G (p.Phe964Val) n.4874T>G n.4526+13785T>G c.4447T>G (p.Phe1483Val) n.4890T>G n.4660-24T>G n.4542+13785T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008263A>G | CA351140965 | COL4A4 | c.190-24T>C (n.190-24T>C) c.4564T>C (p.Phe1522Leu) c.4009T>C (p.Phe1337Leu) c.4375T>C (p.Phe1459Leu) c.4216+13785T>C (n.4216+13785T>C) c.4483T>C (p.Phe1495Leu) c.4456T>C (p.Phe1486Leu) c.4334-24T>C (n.4334-24T>C) c.4217-24T>C (n.4217-24T>C) c.2890T>C (p.Phe964Leu) n.4874T>C n.4526+13785T>C c.4447T>C (p.Phe1483Leu) n.4890T>C n.4660-24T>C n.4542+13785T>C | |
2 | g.227008263A>T | CA351140964 | COL4A4 | c.190-24T>A (n.190-24T>A) c.4564T>A (p.Phe1522Ile) c.4009T>A (p.Phe1337Ile) c.4375T>A (p.Phe1459Ile) c.4216+13785T>A (n.4216+13785T>A) c.4483T>A (p.Phe1495Ile) c.4456T>A (p.Phe1486Ile) c.4334-24T>A (n.4334-24T>A) c.4217-24T>A (n.4217-24T>A) c.2890T>A (p.Phe964Ile) n.4874T>A n.4526+13785T>A c.4447T>A (p.Phe1483Ile) n.4890T>A n.4660-24T>A n.4542+13785T>A | |
2 | g.227008264G>A | CA431672000 | COL4A4 | c.190-25C>T (n.190-25C>T) c.4563C>T (p.Pro1521=) c.4008C>T (p.Pro1336=) c.4374C>T (p.Pro1458=) c.4216+13784C>T (n.4216+13784C>T) c.4482C>T (p.Pro1494=) c.4455C>T (p.Pro1485=) c.4334-25C>T (n.4334-25C>T) c.4217-25C>T (n.4217-25C>T) c.2889C>T (p.Pro963=) n.4873C>T n.4526+13784C>T c.4446C>T (p.Pro1482=) n.4889C>T n.4660-25C>T n.4542+13784C>T | ClinVar dbSNP |
2 | g.227008264G>C | CA431672001 | COL4A4 | c.190-25C>G (n.190-25C>G) c.4563C>G (p.Pro1521=) c.4008C>G (p.Pro1336=) c.4374C>G (p.Pro1458=) c.4216+13784C>G (n.4216+13784C>G) c.4482C>G (p.Pro1494=) c.4455C>G (p.Pro1485=) c.4334-25C>G (n.4334-25C>G) c.4217-25C>G (n.4217-25C>G) c.2889C>G (p.Pro963=) n.4873C>G n.4526+13784C>G c.4446C>G (p.Pro1482=) n.4889C>G n.4660-25C>G n.4542+13784C>G | gnomAD v4 |
2 | g.227008264G>T | CA431672002 | COL4A4 | c.190-25C>A (n.190-25C>A) c.4563C>A (p.Pro1521=) c.4008C>A (p.Pro1336=) c.4374C>A (p.Pro1458=) c.4216+13784C>A (n.4216+13784C>A) c.4482C>A (p.Pro1494=) c.4455C>A (p.Pro1485=) c.4334-25C>A (n.4334-25C>A) c.4217-25C>A (n.4217-25C>A) c.2889C>A (p.Pro963=) n.4873C>A n.4526+13784C>A c.4446C>A (p.Pro1482=) n.4889C>A n.4660-25C>A n.4542+13784C>A | |
2 | g.227008265G>A | CA351140967 | COL4A4 | c.190-26C>T (n.190-26C>T) c.4562C>T (p.Pro1521Leu) c.4007C>T (p.Pro1336Leu) c.4373C>T (p.Pro1458Leu) c.4216+13783C>T (n.4216+13783C>T) c.4481C>T (p.Pro1494Leu) c.4454C>T (p.Pro1485Leu) c.4334-26C>T (n.4334-26C>T) c.4217-26C>T (n.4217-26C>T) c.2888C>T (p.Pro963Leu) n.4872C>T n.4526+13783C>T c.4445C>T (p.Pro1482Leu) n.4888C>T n.4660-26C>T n.4542+13783C>T | dbSNP gnomAD v2 |
2 | g.227008265G>C | CA351140968 | COL4A4 | c.190-26C>G (n.190-26C>G) c.4562C>G (p.Pro1521Arg) c.4007C>G (p.Pro1336Arg) c.4373C>G (p.Pro1458Arg) c.4216+13783C>G (n.4216+13783C>G) c.4481C>G (p.Pro1494Arg) c.4454C>G (p.Pro1485Arg) c.4334-26C>G (n.4334-26C>G) c.4217-26C>G (n.4217-26C>G) c.2888C>G (p.Pro963Arg) n.4872C>G n.4526+13783C>G c.4445C>G (p.Pro1482Arg) n.4888C>G n.4660-26C>G n.4542+13783C>G | ClinVar dbSNP |
2 | g.227008265G= | CA1332723987 | COL4A4 | c.190-26C= (n.190-26C=) c.4562C= (p.Pro1521=) c.4007C= (p.Pro1336=) c.4373C= (p.Pro1458=) c.4216+13783C= (n.4216+13783C=) c.4481C= (p.Pro1494=) c.4454C= (p.Pro1485=) c.4334-26C= (n.4334-26C=) c.4217-26C= (n.4217-26C=) c.2888C= (p.Pro963=) n.4872C= n.4526+13783C= c.4445C= (p.Pro1482=) n.4888C= n.4660-26C= n.4542+13783C= | |
2 | g.227008265G>T | CA351140969 | COL4A4 | c.190-26C>A (n.190-26C>A) c.4562C>A (p.Pro1521His) c.4007C>A (p.Pro1336His) c.4373C>A (p.Pro1458His) c.4216+13783C>A (n.4216+13783C>A) c.4481C>A (p.Pro1494His) c.4454C>A (p.Pro1485His) c.4334-26C>A (n.4334-26C>A) c.4217-26C>A (n.4217-26C>A) c.2888C>A (p.Pro963His) n.4872C>A n.4526+13783C>A c.4445C>A (p.Pro1482His) n.4888C>A n.4660-26C>A n.4542+13783C>A | |
2 | g.227008266G>A | CA351140970 | COL4A4 | c.190-27C>T (n.190-27C>T) c.4561C>T (p.Pro1521Ser) c.4006C>T (p.Pro1336Ser) c.4372C>T (p.Pro1458Ser) c.4216+13782C>T (n.4216+13782C>T) c.4480C>T (p.Pro1494Ser) c.4453C>T (p.Pro1485Ser) c.4334-27C>T (n.4334-27C>T) c.4217-27C>T (n.4217-27C>T) c.2887C>T (p.Pro963Ser) n.4871C>T n.4526+13782C>T c.4444C>T (p.Pro1482Ser) n.4887C>T n.4660-27C>T n.4542+13782C>T | gnomAD v4 COSMIC |
2 | g.227008266G>C | CA351140971 | COL4A4 | c.190-27C>G (n.190-27C>G) c.4561C>G (p.Pro1521Ala) c.4006C>G (p.Pro1336Ala) c.4372C>G (p.Pro1458Ala) c.4216+13782C>G (n.4216+13782C>G) c.4480C>G (p.Pro1494Ala) c.4453C>G (p.Pro1485Ala) c.4334-27C>G (n.4334-27C>G) c.4217-27C>G (n.4217-27C>G) c.2887C>G (p.Pro963Ala) n.4871C>G n.4526+13782C>G c.4444C>G (p.Pro1482Ala) n.4887C>G n.4660-27C>G n.4542+13782C>G | |
2 | g.227008266G>T | CA351140972 | COL4A4 | c.190-27C>A (n.190-27C>A) c.4561C>A (p.Pro1521Thr) c.4006C>A (p.Pro1336Thr) c.4372C>A (p.Pro1458Thr) c.4216+13782C>A (n.4216+13782C>A) c.4480C>A (p.Pro1494Thr) c.4453C>A (p.Pro1485Thr) c.4334-27C>A (n.4334-27C>A) c.4217-27C>A (n.4217-27C>A) c.2887C>A (p.Pro963Thr) n.4871C>A n.4526+13782C>A c.4444C>A (p.Pro1482Thr) n.4887C>A n.4660-27C>A n.4542+13782C>A | |
2 | g.227008267C>A | CA431672003 | COL4A4 | c.190-28G>T (n.190-28G>T) c.4560G>T (p.Leu1520=) c.4005G>T (p.Leu1335=) c.4371G>T (p.Leu1457=) c.4216+13781G>T (n.4216+13781G>T) c.4479G>T (p.Leu1493=) c.4452G>T (p.Leu1484=) c.4334-28G>T (n.4334-28G>T) c.4217-28G>T (n.4217-28G>T) c.2886G>T (p.Leu962=) n.4870G>T n.4526+13781G>T c.4443G>T (p.Leu1481=) n.4886G>T n.4660-28G>T n.4542+13781G>T | |
2 | g.227008267C>G | CA431672004 | COL4A4 | c.190-28G>C (n.190-28G>C) c.4560G>C (p.Leu1520=) c.4005G>C (p.Leu1335=) c.4371G>C (p.Leu1457=) c.4216+13781G>C (n.4216+13781G>C) c.4479G>C (p.Leu1493=) c.4452G>C (p.Leu1484=) c.4334-28G>C (n.4334-28G>C) c.4217-28G>C (n.4217-28G>C) c.2886G>C (p.Leu962=) n.4870G>C n.4526+13781G>C c.4443G>C (p.Leu1481=) n.4886G>C n.4660-28G>C n.4542+13781G>C | |
2 | g.227008267C>T | CA431672005 | COL4A4 | c.190-28G>A (n.190-28G>A) c.4560G>A (p.Leu1520=) c.4005G>A (p.Leu1335=) c.4371G>A (p.Leu1457=) c.4216+13781G>A (n.4216+13781G>A) c.4479G>A (p.Leu1493=) c.4452G>A (p.Leu1484=) c.4334-28G>A (n.4334-28G>A) c.4217-28G>A (n.4217-28G>A) c.2886G>A (p.Leu962=) n.4870G>A n.4526+13781G>A c.4443G>A (p.Leu1481=) n.4886G>A n.4660-28G>A n.4542+13781G>A | ClinVar |
2 | g.227008267_227008268delinsCA | CA1332723988 | COL4A4 | c.190-29_190-28delinsTG (n.190-29_190-28delinsTG) c.4559_4560delinsTG (p.Leu1520=) c.4004_4005delinsTG (p.Leu1335=) c.4370_4371delinsTG (p.Leu1457=) c.4216+13780_4216+13781delinsTG (n.4216+13780_4216+13781delinsTG) c.4478_4479delinsTG (p.Leu1493=) c.4451_4452delinsTG (p.Leu1484=) c.4334-29_4334-28delinsTG (n.4334-29_4334-28delinsTG) c.4217-29_4217-28delinsTG (n.4217-29_4217-28delinsTG) c.2885_2886delinsTG (p.Leu962=) n.4869_4870delinsTG n.4526+13780_4526+13781delinsTG c.4442_4443delinsTG (p.Leu1481=) n.4885_4886delinsTG n.4660-29_4660-28delinsTG n.4542+13780_4542+13781delinsTG | |
2 | g.227008268del | CA765638894 | COL4A4 | c.190-29del (n.190-29del) c.4559del (p.Leu1520ArgfsTer?) c.4004del (p.Leu1335ArgfsTer?) c.4370del (p.Leu1457ArgfsTer?) c.4216+13780del (n.4216+13780del) c.4478del (p.Leu1493ArgfsTer?) c.4451del (p.Leu1484ArgfsTer?) c.4334-29del (n.4334-29del) c.4217-29del (n.4217-29del) c.2885del (p.Leu962ArgfsTer?) n.4869del n.4526+13780del c.4442del (p.Leu1481ArgfsTer?) n.4885del n.4660-29del n.4542+13780del | dbSNP |
2 | g.227008268A>C | CA351140973 | COL4A4 | c.190-29T>G (n.190-29T>G) c.4559T>G (p.Leu1520Arg) c.4004T>G (p.Leu1335Arg) c.4370T>G (p.Leu1457Arg) c.4216+13780T>G (n.4216+13780T>G) c.4478T>G (p.Leu1493Arg) c.4451T>G (p.Leu1484Arg) c.4334-29T>G (n.4334-29T>G) c.4217-29T>G (n.4217-29T>G) c.2885T>G (p.Leu962Arg) n.4869T>G n.4526+13780T>G c.4442T>G (p.Leu1481Arg) n.4885T>G n.4660-29T>G n.4542+13780T>G | |
2 | g.227008268A>G | CA351140974 | COL4A4 | c.190-29T>C (n.190-29T>C) c.4559T>C (p.Leu1520Pro) c.4004T>C (p.Leu1335Pro) c.4370T>C (p.Leu1457Pro) c.4216+13780T>C (n.4216+13780T>C) c.4478T>C (p.Leu1493Pro) c.4451T>C (p.Leu1484Pro) c.4334-29T>C (n.4334-29T>C) c.4217-29T>C (n.4217-29T>C) c.2885T>C (p.Leu962Pro) n.4869T>C n.4526+13780T>C c.4442T>C (p.Leu1481Pro) n.4885T>C n.4660-29T>C n.4542+13780T>C | |
2 | g.227008268A>T | CA351140975 | COL4A4 | c.190-29T>A (n.190-29T>A) c.4559T>A (p.Leu1520Gln) c.4004T>A (p.Leu1335Gln) c.4370T>A (p.Leu1457Gln) c.4216+13780T>A (n.4216+13780T>A) c.4478T>A (p.Leu1493Gln) c.4451T>A (p.Leu1484Gln) c.4334-29T>A (n.4334-29T>A) c.4217-29T>A (n.4217-29T>A) c.2885T>A (p.Leu962Gln) n.4869T>A n.4526+13780T>A c.4442T>A (p.Leu1481Gln) n.4885T>A n.4660-29T>A n.4542+13780T>A | |
2 | g.227008269G>A | CA431672006 | COL4A4 | c.190-30C>T (n.190-30C>T) c.4558C>T (p.Leu1520=) c.4003C>T (p.Leu1335=) c.4369C>T (p.Leu1457=) c.4216+13779C>T (n.4216+13779C>T) c.4477C>T (p.Leu1493=) c.4450C>T (p.Leu1484=) c.4334-30C>T (n.4334-30C>T) c.4217-30C>T (n.4217-30C>T) c.2884C>T (p.Leu962=) n.4868C>T n.4526+13779C>T c.4441C>T (p.Leu1481=) n.4884C>T n.4660-30C>T n.4542+13779C>T | |
2 | g.227008269G>C | CA351140976 | COL4A4 | c.190-30C>G (n.190-30C>G) c.4558C>G (p.Leu1520Val) c.4003C>G (p.Leu1335Val) c.4369C>G (p.Leu1457Val) c.4216+13779C>G (n.4216+13779C>G) c.4477C>G (p.Leu1493Val) c.4450C>G (p.Leu1484Val) c.4334-30C>G (n.4334-30C>G) c.4217-30C>G (n.4217-30C>G) c.2884C>G (p.Leu962Val) n.4868C>G n.4526+13779C>G c.4441C>G (p.Leu1481Val) n.4884C>G n.4660-30C>G n.4542+13779C>G | |
2 | g.227008269G>T | CA351140977 | COL4A4 | c.190-30C>A (n.190-30C>A) c.4558C>A (p.Leu1520Met) c.4003C>A (p.Leu1335Met) c.4369C>A (p.Leu1457Met) c.4216+13779C>A (n.4216+13779C>A) c.4477C>A (p.Leu1493Met) c.4450C>A (p.Leu1484Met) c.4334-30C>A (n.4334-30C>A) c.4217-30C>A (n.4217-30C>A) c.2884C>A (p.Leu962Met) n.4868C>A n.4526+13779C>A c.4441C>A (p.Leu1481Met) n.4884C>A n.4660-30C>A n.4542+13779C>A | |
2 | g.227008270C>A | CA431672007 | COL4A4 | c.190-31G>T (n.190-31G>T) c.4557G>T (p.Thr1519=) c.4002G>T (p.Thr1334=) c.4368G>T (p.Thr1456=) c.4216+13778G>T (n.4216+13778G>T) c.4476G>T (p.Thr1492=) c.4449G>T (p.Thr1483=) c.4334-31G>T (n.4334-31G>T) c.4217-31G>T (n.4217-31G>T) c.2883G>T (p.Thr961=) n.4867G>T n.4526+13778G>T c.4440G>T (p.Thr1480=) n.4883G>T n.4660-31G>T n.4542+13778G>T | dbSNP gnomAD v4 |
2 | g.227008270C= | CA1332723989 | COL4A4 | c.190-31G= (n.190-31G=) c.4557G= (p.Thr1519=) c.4002G= (p.Thr1334=) c.4368G= (p.Thr1456=) c.4216+13778G= (n.4216+13778G=) c.4476G= (p.Thr1492=) c.4449G= (p.Thr1483=) c.4334-31G= (n.4334-31G=) c.4217-31G= (n.4217-31G=) c.2883G= (p.Thr961=) n.4867G= n.4526+13778G= c.4440G= (p.Thr1480=) n.4883G= n.4660-31G= n.4542+13778G= | |
2 | g.227008270C>G | CA431672008 | COL4A4 | c.190-31G>C (n.190-31G>C) c.4557G>C (p.Thr1519=) c.4002G>C (p.Thr1334=) c.4368G>C (p.Thr1456=) c.4216+13778G>C (n.4216+13778G>C) c.4476G>C (p.Thr1492=) c.4449G>C (p.Thr1483=) c.4334-31G>C (n.4334-31G>C) c.4217-31G>C (n.4217-31G>C) c.2883G>C (p.Thr961=) n.4867G>C n.4526+13778G>C c.4440G>C (p.Thr1480=) n.4883G>C n.4660-31G>C n.4542+13778G>C | |
2 | g.227008270C>T | CA2144120 | COL4A4 | c.190-31G>A (n.190-31G>A) c.4557G>A (p.Thr1519=) c.4002G>A (p.Thr1334=) c.4368G>A (p.Thr1456=) c.4216+13778G>A (n.4216+13778G>A) c.4476G>A (p.Thr1492=) c.4449G>A (p.Thr1483=) c.4334-31G>A (n.4334-31G>A) c.4217-31G>A (n.4217-31G>A) c.2883G>A (p.Thr961=) n.4867G>A n.4526+13778G>A c.4440G>A (p.Thr1480=) n.4883G>A n.4660-31G>A n.4542+13778G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008271G>A | CA2144121 | COL4A4 | c.190-32C>T (n.190-32C>T) c.4556C>T (p.Thr1519Met) c.4001C>T (p.Thr1334Met) c.4367C>T (p.Thr1456Met) c.4216+13777C>T (n.4216+13777C>T) c.4475C>T (p.Thr1492Met) c.4448C>T (p.Thr1483Met) c.4334-32C>T (n.4334-32C>T) c.4217-32C>T (n.4217-32C>T) c.2882C>T (p.Thr961Met) n.4866C>T n.4526+13777C>T c.4439C>T (p.Thr1480Met) n.4882C>T n.4660-32C>T n.4542+13777C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008271G>C | CA351140979 | COL4A4 | c.190-32C>G (n.190-32C>G) c.4556C>G (p.Thr1519Arg) c.4001C>G (p.Thr1334Arg) c.4367C>G (p.Thr1456Arg) c.4216+13777C>G (n.4216+13777C>G) c.4475C>G (p.Thr1492Arg) c.4448C>G (p.Thr1483Arg) c.4334-32C>G (n.4334-32C>G) c.4217-32C>G (n.4217-32C>G) c.2882C>G (p.Thr961Arg) n.4866C>G n.4526+13777C>G c.4439C>G (p.Thr1480Arg) n.4882C>G n.4660-32C>G n.4542+13777C>G | |
2 | g.227008271G= | CA1332723990 | COL4A4 | c.190-32C= (n.190-32C=) c.4556C= (p.Thr1519=) c.4001C= (p.Thr1334=) c.4367C= (p.Thr1456=) c.4216+13777C= (n.4216+13777C=) c.4475C= (p.Thr1492=) c.4448C= (p.Thr1483=) c.4334-32C= (n.4334-32C=) c.4217-32C= (n.4217-32C=) c.2882C= (p.Thr961=) n.4866C= n.4526+13777C= c.4439C= (p.Thr1480=) n.4882C= n.4660-32C= n.4542+13777C= | |
2 | g.227008271G>T | CA351140978 | COL4A4 | c.190-32C>A (n.190-32C>A) c.4556C>A (p.Thr1519Lys) c.4001C>A (p.Thr1334Lys) c.4367C>A (p.Thr1456Lys) c.4216+13777C>A (n.4216+13777C>A) c.4475C>A (p.Thr1492Lys) c.4448C>A (p.Thr1483Lys) c.4334-32C>A (n.4334-32C>A) c.4217-32C>A (n.4217-32C>A) c.2882C>A (p.Thr961Lys) n.4866C>A n.4526+13777C>A c.4439C>A (p.Thr1480Lys) n.4882C>A n.4660-32C>A n.4542+13777C>A | dbSNP |
2 | g.227008272_227008284del | CA2499215693 | COL4A4 | c.190-44_190-32del (n.190-44_190-32del) c.4544_4556del (p.Pro1515ArgfsTer?) c.3989_4001del (p.Pro1330ArgfsTer?) c.4355_4367del (p.Pro1452ArgfsTer?) c.4216+13765_4216+13777del (n.4216+13765_4216+13777del) c.4463_4475del (p.Pro1488ArgfsTer?) c.4436_4448del (p.Pro1479ArgfsTer?) c.4334-44_4334-32del (n.4334-44_4334-32del) c.4217-44_4217-32del (n.4217-44_4217-32del) c.2870_2882del (p.Pro957ArgfsTer?) n.4854_4866del n.4526+13765_4526+13777del c.4427_4439del (p.Pro1476ArgfsTer?) n.4870_4882del n.4660-44_4660-32del n.4542+13765_4542+13777del | ClinVar dbSNP |
2 | g.227008272T>A | CA351140980 | COL4A4 | c.190-33A>T (n.190-33A>T) c.4555A>T (p.Thr1519Ser) c.4000A>T (p.Thr1334Ser) c.4366A>T (p.Thr1456Ser) c.4216+13776A>T (n.4216+13776A>T) c.4474A>T (p.Thr1492Ser) c.4447A>T (p.Thr1483Ser) c.4334-33A>T (n.4334-33A>T) c.4217-33A>T (n.4217-33A>T) c.2881A>T (p.Thr961Ser) n.4865A>T n.4526+13776A>T c.4438A>T (p.Thr1480Ser) n.4881A>T n.4660-33A>T n.4542+13776A>T | |
2 | g.227008272T>C | CA351140981 | COL4A4 | c.190-33A>G (n.190-33A>G) c.4555A>G (p.Thr1519Ala) c.4000A>G (p.Thr1334Ala) c.4366A>G (p.Thr1456Ala) c.4216+13776A>G (n.4216+13776A>G) c.4474A>G (p.Thr1492Ala) c.4447A>G (p.Thr1483Ala) c.4334-33A>G (n.4334-33A>G) c.4217-33A>G (n.4217-33A>G) c.2881A>G (p.Thr961Ala) n.4865A>G n.4526+13776A>G c.4438A>G (p.Thr1480Ala) n.4881A>G n.4660-33A>G n.4542+13776A>G | |
2 | g.227008272T>G | CA67238303 | COL4A4 | c.190-33A>C (n.190-33A>C) c.4555A>C (p.Thr1519Pro) c.4000A>C (p.Thr1334Pro) c.4366A>C (p.Thr1456Pro) c.4216+13776A>C (n.4216+13776A>C) c.4474A>C (p.Thr1492Pro) c.4447A>C (p.Thr1483Pro) c.4334-33A>C (n.4334-33A>C) c.4217-33A>C (n.4217-33A>C) c.2881A>C (p.Thr961Pro) n.4865A>C n.4526+13776A>C c.4438A>C (p.Thr1480Pro) n.4881A>C n.4660-33A>C n.4542+13776A>C | ClinVar dbSNP |
2 | g.227008272T= | CA1332723991 | COL4A4 | c.190-33A= (n.190-33A=) c.4555A= (p.Thr1519=) c.4000A= (p.Thr1334=) c.4366A= (p.Thr1456=) c.4216+13776A= (n.4216+13776A=) c.4474A= (p.Thr1492=) c.4447A= (p.Thr1483=) c.4334-33A= (n.4334-33A=) c.4217-33A= (n.4217-33A=) c.2881A= (p.Thr961=) n.4865A= n.4526+13776A= c.4438A= (p.Thr1480=) n.4881A= n.4660-33A= n.4542+13776A= | |
2 | g.227008273G>A | CA431672009 | COL4A4 | c.190-34C>T (n.190-34C>T) c.4554C>T (p.Ser1518=) c.3999C>T (p.Ser1333=) c.4365C>T (p.Ser1455=) c.4216+13775C>T (n.4216+13775C>T) c.4473C>T (p.Ser1491=) c.4446C>T (p.Ser1482=) c.4334-34C>T (n.4334-34C>T) c.4217-34C>T (n.4217-34C>T) c.2880C>T (p.Ser960=) n.4864C>T n.4526+13775C>T c.4437C>T (p.Ser1479=) n.4880C>T n.4660-34C>T n.4542+13775C>T | |
2 | g.227008273G>C | CA351140982 | COL4A4 | c.190-34C>G (n.190-34C>G) c.4554C>G (p.Ser1518Arg) c.3999C>G (p.Ser1333Arg) c.4365C>G (p.Ser1455Arg) c.4216+13775C>G (n.4216+13775C>G) c.4473C>G (p.Ser1491Arg) c.4446C>G (p.Ser1482Arg) c.4334-34C>G (n.4334-34C>G) c.4217-34C>G (n.4217-34C>G) c.2880C>G (p.Ser960Arg) n.4864C>G n.4526+13775C>G c.4437C>G (p.Ser1479Arg) n.4880C>G n.4660-34C>G n.4542+13775C>G | dbSNP |
2 | g.227008273G= | CA1332723992 | COL4A4 | c.190-34C= (n.190-34C=) c.4554C= (p.Ser1518=) c.3999C= (p.Ser1333=) c.4365C= (p.Ser1455=) c.4216+13775C= (n.4216+13775C=) c.4473C= (p.Ser1491=) c.4446C= (p.Ser1482=) c.4334-34C= (n.4334-34C=) c.4217-34C= (n.4217-34C=) c.2880C= (p.Ser960=) n.4864C= n.4526+13775C= c.4437C= (p.Ser1479=) n.4880C= n.4660-34C= n.4542+13775C= | |
2 | g.227008273G>T | CA351140983 | COL4A4 | c.190-34C>A (n.190-34C>A) c.4554C>A (p.Ser1518Arg) c.3999C>A (p.Ser1333Arg) c.4365C>A (p.Ser1455Arg) c.4216+13775C>A (n.4216+13775C>A) c.4473C>A (p.Ser1491Arg) c.4446C>A (p.Ser1482Arg) c.4334-34C>A (n.4334-34C>A) c.4217-34C>A (n.4217-34C>A) c.2880C>A (p.Ser960Arg) n.4864C>A n.4526+13775C>A c.4437C>A (p.Ser1479Arg) n.4880C>A n.4660-34C>A n.4542+13775C>A |