Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108692750_108692764delinsACGGCTGGCAGCTGC | CA2450720832 | COL4A5 | c.4531_4545delinsACGGCTGGCAGCTGC (p.Thr1511=) c.4513_4527delinsACGGCTGGCAGCTGC (p.Thr1505=) n.1025_1039delinsACGGCTGGCAGCTGC c.325-3547_325-3533delinsACGGCTGGCAGCTGC c.4522_4536delinsACGGCTGGCAGCTGC (p.Thr1508=) c.4207_4221delinsACGGCTGGCAGCTGC (p.Thr1403=) c.2104_2118delinsACGGCTGGCAGCTGC (p.Thr702=) c.4546_4560delinsACGGCTGGCAGCTGC (p.Thr1516=) c.4537_4551delinsACGGCTGGCAGCTGC (p.Thr1513=) c.4528_4542delinsACGGCTGGCAGCTGC (p.Thr1510=) c.2866_2880delinsACGGCTGGCAGCTGC (p.Thr956=) | |
X | g.108692751_108692764delinsTTTCAT | CA891843691 | COL4A5 | c.4532_4545delinsTTTCAT (p.Thr1511IlefsTer7) c.4514_4527delinsTTTCAT (p.Thr1505IlefsTer7) n.1026_1039delinsTTTCAT c.325-3546_325-3533delinsTTTCAT c.4523_4536delinsTTTCAT (p.Thr1508IlefsTer7) c.4208_4221delinsTTTCAT (p.Thr1403IlefsTer7) c.2105_2118delinsTTTCAT (p.Thr702IlefsTer7) c.4547_4560delinsTTTCAT (p.Thr1516IlefsTer7) c.4538_4551delinsTTTCAT (p.Thr1513IlefsTer7) c.4529_4542delinsTTTCAT (p.Thr1510IlefsTer7) c.2867_2880delinsTTTCAT (p.Thr956IlefsTer7) | |
X | g.108692763G>A | CA413855261 | COL4A5 | c.4544G>A (p.Cys1515Tyr) c.4526G>A (p.Cys1509Tyr) n.1038G>A c.325-3534G>A c.4535G>A (p.Cys1512Tyr) c.4220G>A (p.Cys1407Tyr) c.2117G>A (p.Cys706Tyr) c.4559G>A (p.Cys1520Tyr) c.4550G>A (p.Cys1517Tyr) c.4541G>A (p.Cys1514Tyr) c.2879G>A (p.Cys960Tyr) | ClinVar dbSNP |
X | g.108692763G>C | CA413855263 | COL4A5 | c.4544G>C (p.Cys1515Ser) c.4526G>C (p.Cys1509Ser) n.1038G>C c.325-3534G>C c.4535G>C (p.Cys1512Ser) c.4220G>C (p.Cys1407Ser) c.2117G>C (p.Cys706Ser) c.4559G>C (p.Cys1520Ser) c.4550G>C (p.Cys1517Ser) c.4541G>C (p.Cys1514Ser) c.2879G>C (p.Cys960Ser) | |
X | g.108692763G= | CA2450720838 | COL4A5 | c.4544G= (p.Cys1515=) c.4526G= (p.Cys1509=) n.1038G= c.325-3534G= c.4535G= (p.Cys1512=) c.4220G= (p.Cys1407=) c.2117G= (p.Cys706=) c.4559G= (p.Cys1520=) c.4550G= (p.Cys1517=) c.4541G= (p.Cys1514=) c.2879G= (p.Cys960=) | |
X | g.108692763G>T | CA413855265 | COL4A5 | c.4544G>T (p.Cys1515Phe) c.4526G>T (p.Cys1509Phe) n.1038G>T c.325-3534G>T c.4535G>T (p.Cys1512Phe) c.4220G>T (p.Cys1407Phe) c.2117G>T (p.Cys706Phe) c.4559G>T (p.Cys1520Phe) c.4550G>T (p.Cys1517Phe) c.4541G>T (p.Cys1514Phe) c.2879G>T (p.Cys960Phe) | |
X | g.108692763_108692764delinsTTAGTA | CA2695235242 | COL4A5 | c.4544_4545delinsTTAGTA (p.Cys1515PhefsTer7) c.4526_4527delinsTTAGTA (p.Cys1509PhefsTer7) n.1038_1039delinsTTAGTA c.325-3534_325-3533delinsTTAGTA c.4535_4536delinsTTAGTA (p.Cys1512PhefsTer7) c.4220_4221delinsTTAGTA (p.Cys1407PhefsTer7) c.2117_2118delinsTTAGTA (p.Cys706PhefsTer7) c.4559_4560delinsTTAGTA (p.Cys1520PhefsTer7) c.4550_4551delinsTTAGTA (p.Cys1517PhefsTer7) c.4541_4542delinsTTAGTA (p.Cys1514PhefsTer7) c.2879_2880delinsTTAGTA (p.Cys960PhefsTer7) | |
X | g.108692764C>A | CA413855266 | COL4A5 | c.4545C>A (p.Cys1515Ter) c.4527C>A (p.Cys1509Ter) n.1039C>A c.325-3533C>A c.4536C>A (p.Cys1512Ter) c.4221C>A (p.Cys1407Ter) c.2118C>A (p.Cys706Ter) c.4560C>A (p.Cys1520Ter) c.4551C>A (p.Cys1517Ter) c.4542C>A (p.Cys1514Ter) c.2880C>A (p.Cys960Ter) | |
X | g.108692764C>G | CA413855268 | COL4A5 | c.4545C>G (p.Cys1515Trp) c.4527C>G (p.Cys1509Trp) n.1039C>G c.325-3533C>G c.4536C>G (p.Cys1512Trp) c.4221C>G (p.Cys1407Trp) c.2118C>G (p.Cys706Trp) c.4560C>G (p.Cys1520Trp) c.4551C>G (p.Cys1517Trp) c.4542C>G (p.Cys1514Trp) c.2880C>G (p.Cys960Trp) | |
X | g.108692764C>T | CA517925061 | COL4A5 | c.4545C>T (p.Cys1515=) c.4527C>T (p.Cys1509=) n.1039C>T c.325-3533C>T c.4536C>T (p.Cys1512=) c.4221C>T (p.Cys1407=) c.2118C>T (p.Cys706=) c.4560C>T (p.Cys1520=) c.4551C>T (p.Cys1517=) c.4542C>T (p.Cys1514=) c.2880C>T (p.Cys960=) | |
X | g.108692765C>A | CA413855270 | COL4A5 | c.4546C>A (p.Leu1516Ile) c.4528C>A (p.Leu1510Ile) n.1040C>A c.325-3532C>A c.4537C>A (p.Leu1513Ile) c.4222C>A (p.Leu1408Ile) c.2119C>A (p.Leu707Ile) c.4561C>A (p.Leu1521Ile) c.4552C>A (p.Leu1518Ile) c.4543C>A (p.Leu1515Ile) c.2881C>A (p.Leu961Ile) | |
X | g.108692765C>G | CA413855272 | COL4A5 | c.4546C>G (p.Leu1516Val) c.4528C>G (p.Leu1510Val) n.1040C>G c.325-3532C>G c.4537C>G (p.Leu1513Val) c.4222C>G (p.Leu1408Val) c.2119C>G (p.Leu707Val) c.4561C>G (p.Leu1521Val) c.4552C>G (p.Leu1518Val) c.4543C>G (p.Leu1515Val) c.2881C>G (p.Leu961Val) | |
X | g.108692765C>T | CA413855274 | COL4A5 | c.4546C>T (p.Leu1516Phe) c.4528C>T (p.Leu1510Phe) n.1040C>T c.325-3532C>T c.4537C>T (p.Leu1513Phe) c.4222C>T (p.Leu1408Phe) c.2119C>T (p.Leu707Phe) c.4561C>T (p.Leu1521Phe) c.4552C>T (p.Leu1518Phe) c.4543C>T (p.Leu1515Phe) c.2881C>T (p.Leu961Phe) | |
X | g.108692766T>A | CA413855276 | COL4A5 | c.4547T>A (p.Leu1516His) c.4529T>A (p.Leu1510His) n.1041T>A c.325-3531T>A c.4538T>A (p.Leu1513His) c.4223T>A (p.Leu1408His) c.2120T>A (p.Leu707His) c.4562T>A (p.Leu1521His) c.4553T>A (p.Leu1518His) c.4544T>A (p.Leu1515His) c.2882T>A (p.Leu961His) | |
X | g.108692766T>C | CA413855278 | COL4A5 | c.4547T>C (p.Leu1516Pro) c.4529T>C (p.Leu1510Pro) n.1041T>C c.325-3531T>C c.4538T>C (p.Leu1513Pro) c.4223T>C (p.Leu1408Pro) c.2120T>C (p.Leu707Pro) c.4562T>C (p.Leu1521Pro) c.4553T>C (p.Leu1518Pro) c.4544T>C (p.Leu1515Pro) c.2882T>C (p.Leu961Pro) | gnomAD v4 |
X | g.108692766T>G | CA413855280 | COL4A5 | c.4547T>G (p.Leu1516Arg) c.4529T>G (p.Leu1510Arg) n.1041T>G c.325-3531T>G c.4538T>G (p.Leu1513Arg) c.4223T>G (p.Leu1408Arg) c.2120T>G (p.Leu707Arg) c.4562T>G (p.Leu1521Arg) c.4553T>G (p.Leu1518Arg) c.4544T>G (p.Leu1515Arg) c.2882T>G (p.Leu961Arg) | |
X | g.108692767T>A | CA517925064 | COL4A5 | c.4548T>A (p.Leu1516=) c.4530T>A (p.Leu1510=) n.1042T>A c.325-3530T>A c.4539T>A (p.Leu1513=) c.4224T>A (p.Leu1408=) c.2121T>A (p.Leu707=) c.4563T>A (p.Leu1521=) c.4554T>A (p.Leu1518=) c.4545T>A (p.Leu1515=) c.2883T>A (p.Leu961=) | |
X | g.108692767T>C | CA517925065 | COL4A5 | c.4548T>C (p.Leu1516=) c.4530T>C (p.Leu1510=) n.1042T>C c.325-3530T>C c.4539T>C (p.Leu1513=) c.4224T>C (p.Leu1408=) c.2121T>C (p.Leu707=) c.4563T>C (p.Leu1521=) c.4554T>C (p.Leu1518=) c.4545T>C (p.Leu1515=) c.2883T>C (p.Leu961=) | |
X | g.108692767T>G | CA517925068 | COL4A5 | c.4548T>G (p.Leu1516=) c.4530T>G (p.Leu1510=) n.1042T>G c.325-3530T>G c.4539T>G (p.Leu1513=) c.4224T>G (p.Leu1408=) c.2121T>G (p.Leu707=) c.4563T>G (p.Leu1521=) c.4554T>G (p.Leu1518=) c.4545T>G (p.Leu1515=) c.2883T>G (p.Leu961=) | |
X | g.108692767_108692768delinsTC | CA2450720839 | COL4A5 | c.4548_4549delinsTC (p.Leu1516=) c.4530_4531delinsTC (p.Leu1510=) n.1042_1043delinsTC c.325-3530_325-3529delinsTC c.4539_4540delinsTC (p.Leu1513=) c.4224_4225delinsTC (p.Leu1408=) c.2121_2122delinsTC (p.Leu707=) c.4563_4564delinsTC (p.Leu1521=) c.4554_4555delinsTC (p.Leu1518=) c.4545_4546delinsTC (p.Leu1515=) c.2883_2884delinsTC (p.Leu961=) | |
X | g.108692768del | CA10581302 | COL4A5 | c.4549del (p.Arg1517ValfsTer?) c.4531del (p.Arg1511ValfsTer?) n.1043del c.325-3529del c.4540del (p.Arg1514ValfsTer?) c.4225del (p.Arg1409ValfsTer?) c.2122del (p.Arg708ValfsTer?) c.4564del (p.Arg1522ValfsTer?) c.4555del (p.Arg1519ValfsTer?) c.4546del (p.Arg1516ValfsTer?) c.2884del (p.Arg962ValfsTer?) | ClinVar dbSNP |
X | g.108692768C>A | CA413855286 | COL4A5 | c.4549C>A (p.Arg1517Ser) c.4531C>A (p.Arg1511Ser) n.1043C>A c.325-3529C>A c.4540C>A (p.Arg1514Ser) c.4225C>A (p.Arg1409Ser) c.2122C>A (p.Arg708Ser) c.4564C>A (p.Arg1522Ser) c.4555C>A (p.Arg1519Ser) c.4546C>A (p.Arg1516Ser) c.2884C>A (p.Arg962Ser) | dbSNP |
X | g.108692768C= | CA2450720840 | COL4A5 | c.4549C= (p.Arg1517=) c.4531C= (p.Arg1511=) n.1043C= c.325-3529C= c.4540C= (p.Arg1514=) c.4225C= (p.Arg1409=) c.2122C= (p.Arg708=) c.4564C= (p.Arg1522=) c.4555C= (p.Arg1519=) c.4546C= (p.Arg1516=) c.2884C= (p.Arg962=) | |
X | g.108692768C>G | CA413855283 | COL4A5 | c.4549C>G (p.Arg1517Gly) c.4531C>G (p.Arg1511Gly) n.1043C>G c.325-3529C>G c.4540C>G (p.Arg1514Gly) c.4225C>G (p.Arg1409Gly) c.2122C>G (p.Arg708Gly) c.4564C>G (p.Arg1522Gly) c.4555C>G (p.Arg1519Gly) c.4546C>G (p.Arg1516Gly) c.2884C>G (p.Arg962Gly) | |
X | g.108692768C>T | CA334061559 | COL4A5 | c.4549C>T (p.Arg1517Cys) c.4531C>T (p.Arg1511Cys) n.1043C>T c.325-3529C>T c.4540C>T (p.Arg1514Cys) c.4225C>T (p.Arg1409Cys) c.2122C>T (p.Arg708Cys) c.4564C>T (p.Arg1522Cys) c.4555C>T (p.Arg1519Cys) c.4546C>T (p.Arg1516Cys) c.2884C>T (p.Arg962Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.108692769G>A | CA259063 | COL4A5 | c.4550G>A (p.Arg1517His) c.4532G>A (p.Arg1511His) n.1044G>A c.325-3528G>A c.4541G>A (p.Arg1514His) c.4226G>A (p.Arg1409His) c.2123G>A (p.Arg708His) c.4565G>A (p.Arg1522His) c.4556G>A (p.Arg1519His) c.4547G>A (p.Arg1516His) c.2885G>A (p.Arg962His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108692769G>C | CA413855289 | COL4A5 | c.4550G>C (p.Arg1517Pro) c.4532G>C (p.Arg1511Pro) n.1044G>C c.325-3528G>C c.4541G>C (p.Arg1514Pro) c.4226G>C (p.Arg1409Pro) c.2123G>C (p.Arg708Pro) c.4565G>C (p.Arg1522Pro) c.4556G>C (p.Arg1519Pro) c.4547G>C (p.Arg1516Pro) c.2885G>C (p.Arg962Pro) | |
X | g.108692769G= | CA2450720841 | COL4A5 | c.4550G= (p.Arg1517=) c.4532G= (p.Arg1511=) n.1044G= c.325-3528G= c.4541G= (p.Arg1514=) c.4226G= (p.Arg1409=) c.2123G= (p.Arg708=) c.4565G= (p.Arg1522=) c.4556G= (p.Arg1519=) c.4547G= (p.Arg1516=) c.2885G= (p.Arg962=) | |
X | g.108692769G>T | CA413855291 | COL4A5 | c.4550G>T (p.Arg1517Leu) c.4532G>T (p.Arg1511Leu) n.1044G>T c.325-3528G>T c.4541G>T (p.Arg1514Leu) c.4226G>T (p.Arg1409Leu) c.2123G>T (p.Arg708Leu) c.4565G>T (p.Arg1522Leu) c.4556G>T (p.Arg1519Leu) c.4547G>T (p.Arg1516Leu) c.2885G>T (p.Arg962Leu) | |
X | g.108692770T>A | CA517925082 | COL4A5 | c.4551T>A (p.Arg1517=) c.4533T>A (p.Arg1511=) n.1045T>A c.325-3527T>A c.4542T>A (p.Arg1514=) c.4227T>A (p.Arg1409=) c.2124T>A (p.Arg708=) c.4566T>A (p.Arg1522=) c.4557T>A (p.Arg1519=) c.4548T>A (p.Arg1516=) c.2886T>A (p.Arg962=) | |
X | g.108692770T>C | CA517925078 | COL4A5 | c.4551T>C (p.Arg1517=) c.4533T>C (p.Arg1511=) n.1045T>C c.325-3527T>C c.4542T>C (p.Arg1514=) c.4227T>C (p.Arg1409=) c.2124T>C (p.Arg708=) c.4566T>C (p.Arg1522=) c.4557T>C (p.Arg1519=) c.4548T>C (p.Arg1516=) c.2886T>C (p.Arg962=) | |
X | g.108692770T>G | CA517925080 | COL4A5 | c.4551T>G (p.Arg1517=) c.4533T>G (p.Arg1511=) n.1045T>G c.325-3527T>G c.4542T>G (p.Arg1514=) c.4227T>G (p.Arg1409=) c.2124T>G (p.Arg708=) c.4566T>G (p.Arg1522=) c.4557T>G (p.Arg1519=) c.4548T>G (p.Arg1516=) c.2886T>G (p.Arg962=) | |
X | g.108692771C>A | CA413855293 | COL4A5 | c.4552C>A (p.Arg1518Ser) c.4534C>A (p.Arg1512Ser) n.1046C>A c.325-3526C>A c.4543C>A (p.Arg1515Ser) c.4228C>A (p.Arg1410Ser) c.2125C>A (p.Arg709Ser) c.4567C>A (p.Arg1523Ser) c.4558C>A (p.Arg1520Ser) c.4549C>A (p.Arg1517Ser) c.2887C>A (p.Arg963Ser) | |
X | g.108692771C= | CA2450720842 | COL4A5 | c.4552C= (p.Arg1518=) c.4534C= (p.Arg1512=) n.1046C= c.325-3526C= c.4543C= (p.Arg1515=) c.4228C= (p.Arg1410=) c.2125C= (p.Arg709=) c.4567C= (p.Arg1523=) c.4558C= (p.Arg1520=) c.4549C= (p.Arg1517=) c.2887C= (p.Arg963=) | |
X | g.108692771C>G | CA413855295 | COL4A5 | c.4552C>G (p.Arg1518Gly) c.4534C>G (p.Arg1512Gly) n.1046C>G c.325-3526C>G c.4543C>G (p.Arg1515Gly) c.4228C>G (p.Arg1410Gly) c.2125C>G (p.Arg709Gly) c.4567C>G (p.Arg1523Gly) c.4558C>G (p.Arg1520Gly) c.4549C>G (p.Arg1517Gly) c.2887C>G (p.Arg963Gly) | dbSNP |
X | g.108692771C>T | CA334061562 | COL4A5 | c.4552C>T (p.Arg1518Cys) c.4534C>T (p.Arg1512Cys) n.1046C>T c.325-3526C>T c.4543C>T (p.Arg1515Cys) c.4228C>T (p.Arg1410Cys) c.2125C>T (p.Arg709Cys) c.4567C>T (p.Arg1523Cys) c.4558C>T (p.Arg1520Cys) c.4549C>T (p.Arg1517Cys) c.2887C>T (p.Arg963Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.108692772G>A | CA413855298 | COL4A5 | c.4553G>A (p.Arg1518His) c.4535G>A (p.Arg1512His) n.1047G>A c.325-3525G>A c.4544G>A (p.Arg1515His) c.4229G>A (p.Arg1410His) c.2126G>A (p.Arg709His) c.4568G>A (p.Arg1523His) c.4559G>A (p.Arg1520His) c.4550G>A (p.Arg1517His) c.2888G>A (p.Arg963His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.108692772G>C | CA413855300 | COL4A5 | c.4553G>C (p.Arg1518Pro) c.4535G>C (p.Arg1512Pro) n.1047G>C c.325-3525G>C c.4544G>C (p.Arg1515Pro) c.4229G>C (p.Arg1410Pro) c.2126G>C (p.Arg709Pro) c.4568G>C (p.Arg1523Pro) c.4559G>C (p.Arg1520Pro) c.4550G>C (p.Arg1517Pro) c.2888G>C (p.Arg963Pro) | |
X | g.108692772G= | CA2450720843 | COL4A5 | c.4553G= (p.Arg1518=) c.4535G= (p.Arg1512=) n.1047G= c.325-3525G= c.4544G= (p.Arg1515=) c.4229G= (p.Arg1410=) c.2126G= (p.Arg709=) c.4568G= (p.Arg1523=) c.4559G= (p.Arg1520=) c.4550G= (p.Arg1517=) c.2888G= (p.Arg963=) | |
X | g.108692772G>T | CA413855302 | COL4A5 | c.4553G>T (p.Arg1518Leu) c.4535G>T (p.Arg1512Leu) n.1047G>T c.325-3525G>T c.4544G>T (p.Arg1515Leu) c.4229G>T (p.Arg1410Leu) c.2126G>T (p.Arg709Leu) c.4568G>T (p.Arg1523Leu) c.4559G>T (p.Arg1520Leu) c.4550G>T (p.Arg1517Leu) c.2888G>T (p.Arg963Leu) | |
X | g.108692773C>A | CA517925087 | COL4A5 | c.4554C>A (p.Arg1518=) c.4536C>A (p.Arg1512=) n.1048C>A c.325-3524C>A c.4545C>A (p.Arg1515=) c.4230C>A (p.Arg1410=) c.2127C>A (p.Arg709=) c.4569C>A (p.Arg1523=) c.4560C>A (p.Arg1520=) c.4551C>A (p.Arg1517=) c.2889C>A (p.Arg963=) | |
X | g.108692773C>G | CA517925088 | COL4A5 | c.4554C>G (p.Arg1518=) c.4536C>G (p.Arg1512=) n.1048C>G c.325-3524C>G c.4545C>G (p.Arg1515=) c.4230C>G (p.Arg1410=) c.2127C>G (p.Arg709=) c.4569C>G (p.Arg1523=) c.4560C>G (p.Arg1520=) c.4551C>G (p.Arg1517=) c.2889C>G (p.Arg963=) | |
X | g.108692773C>T | CA517925090 | COL4A5 | c.4554C>T (p.Arg1518=) c.4536C>T (p.Arg1512=) n.1048C>T c.325-3524C>T c.4545C>T (p.Arg1515=) c.4230C>T (p.Arg1410=) c.2127C>T (p.Arg709=) c.4569C>T (p.Arg1523=) c.4560C>T (p.Arg1520=) c.4551C>T (p.Arg1517=) c.2889C>T (p.Arg963=) | |
X | g.108692774T>A | CA413855305 | COL4A5 | c.4555T>A (p.Phe1519Ile) c.4537T>A (p.Phe1513Ile) n.1049T>A c.325-3523T>A c.4546T>A (p.Phe1516Ile) c.4231T>A (p.Phe1411Ile) c.2128T>A (p.Phe710Ile) c.4570T>A (p.Phe1524Ile) c.4561T>A (p.Phe1521Ile) c.4552T>A (p.Phe1518Ile) c.2890T>A (p.Phe964Ile) | |
X | g.108692774T>C | CA413855306 | COL4A5 | c.4555T>C (p.Phe1519Leu) c.4537T>C (p.Phe1513Leu) n.1049T>C c.325-3523T>C c.4546T>C (p.Phe1516Leu) c.4231T>C (p.Phe1411Leu) c.2128T>C (p.Phe710Leu) c.4570T>C (p.Phe1524Leu) c.4561T>C (p.Phe1521Leu) c.4552T>C (p.Phe1518Leu) c.2890T>C (p.Phe964Leu) | |
X | g.108692774T>G | CA413855304 | COL4A5 | c.4555T>G (p.Phe1519Val) c.4537T>G (p.Phe1513Val) n.1049T>G c.325-3523T>G c.4546T>G (p.Phe1516Val) c.4231T>G (p.Phe1411Val) c.2128T>G (p.Phe710Val) c.4570T>G (p.Phe1524Val) c.4561T>G (p.Phe1521Val) c.4552T>G (p.Phe1518Val) c.2890T>G (p.Phe964Val) | |
X | g.108692775T>A | CA413855309 | COL4A5 | c.4556T>A (p.Phe1519Tyr) c.4538T>A (p.Phe1513Tyr) n.1050T>A c.325-3522T>A c.4547T>A (p.Phe1516Tyr) c.4232T>A (p.Phe1411Tyr) c.2129T>A (p.Phe710Tyr) c.4571T>A (p.Phe1524Tyr) c.4562T>A (p.Phe1521Tyr) c.4553T>A (p.Phe1518Tyr) c.2891T>A (p.Phe964Tyr) | |
X | g.108692775T>C | CA413855310 | COL4A5 | c.4556T>C (p.Phe1519Ser) c.4538T>C (p.Phe1513Ser) n.1050T>C c.325-3522T>C c.4547T>C (p.Phe1516Ser) c.4232T>C (p.Phe1411Ser) c.2129T>C (p.Phe710Ser) c.4571T>C (p.Phe1524Ser) c.4562T>C (p.Phe1521Ser) c.4553T>C (p.Phe1518Ser) c.2891T>C (p.Phe964Ser) | |
X | g.108692775T>G | CA413855312 | COL4A5 | c.4556T>G (p.Phe1519Cys) c.4538T>G (p.Phe1513Cys) n.1050T>G c.325-3522T>G c.4547T>G (p.Phe1516Cys) c.4232T>G (p.Phe1411Cys) c.2129T>G (p.Phe710Cys) c.4571T>G (p.Phe1524Cys) c.4562T>G (p.Phe1521Cys) c.4553T>G (p.Phe1518Cys) c.2891T>G (p.Phe964Cys) | |
X | g.108692776T>A | CA413855314 | COL4A5 | c.4557T>A (p.Phe1519Leu) c.4539T>A (p.Phe1513Leu) n.1051T>A c.325-3521T>A c.4548T>A (p.Phe1516Leu) c.4233T>A (p.Phe1411Leu) c.2130T>A (p.Phe710Leu) c.4572T>A (p.Phe1524Leu) c.4563T>A (p.Phe1521Leu) c.4554T>A (p.Phe1518Leu) c.2892T>A (p.Phe964Leu) | |
X | g.108692776T>C | CA517925097 | COL4A5 | c.4557T>C (p.Phe1519=) c.4539T>C (p.Phe1513=) n.1051T>C c.325-3521T>C c.4548T>C (p.Phe1516=) c.4233T>C (p.Phe1411=) c.2130T>C (p.Phe710=) c.4572T>C (p.Phe1524=) c.4563T>C (p.Phe1521=) c.4554T>C (p.Phe1518=) c.2892T>C (p.Phe964=) | |
X | g.108692776T>G | CA413855316 | COL4A5 | c.4557T>G (p.Phe1519Leu) c.4539T>G (p.Phe1513Leu) n.1051T>G c.325-3521T>G c.4548T>G (p.Phe1516Leu) c.4233T>G (p.Phe1411Leu) c.2130T>G (p.Phe710Leu) c.4572T>G (p.Phe1524Leu) c.4563T>G (p.Phe1521Leu) c.4554T>G (p.Phe1518Leu) c.2892T>G (p.Phe964Leu) | |
X | g.108692777A= | CA2450720844 | COL4A5 | c.4558A= (p.Ser1520=) c.4540A= (p.Ser1514=) n.1052A= c.325-3520A= c.4549A= (p.Ser1517=) c.4234A= (p.Ser1412=) c.2131A= (p.Ser711=) c.4573A= (p.Ser1525=) c.4564A= (p.Ser1522=) c.4555A= (p.Ser1519=) c.2893A= (p.Ser965=) | |
X | g.108692777A>C | CA413855318 | COL4A5 | c.4558A>C (p.Ser1520Arg) c.4540A>C (p.Ser1514Arg) n.1052A>C c.325-3520A>C c.4549A>C (p.Ser1517Arg) c.4234A>C (p.Ser1412Arg) c.2131A>C (p.Ser711Arg) c.4573A>C (p.Ser1525Arg) c.4564A>C (p.Ser1522Arg) c.4555A>C (p.Ser1519Arg) c.2893A>C (p.Ser965Arg) | |
X | g.108692777A>G | CA10489382 | COL4A5 | c.4558A>G (p.Ser1520Gly) c.4540A>G (p.Ser1514Gly) n.1052A>G c.325-3520A>G c.4549A>G (p.Ser1517Gly) c.4234A>G (p.Ser1412Gly) c.2131A>G (p.Ser711Gly) c.4573A>G (p.Ser1525Gly) c.4564A>G (p.Ser1522Gly) c.4555A>G (p.Ser1519Gly) c.2893A>G (p.Ser965Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108692777A>T | CA413855321 | COL4A5 | c.4558A>T (p.Ser1520Cys) c.4540A>T (p.Ser1514Cys) n.1052A>T c.325-3520A>T c.4549A>T (p.Ser1517Cys) c.4234A>T (p.Ser1412Cys) c.2131A>T (p.Ser711Cys) c.4573A>T (p.Ser1525Cys) c.4564A>T (p.Ser1522Cys) c.4555A>T (p.Ser1519Cys) c.2893A>T (p.Ser965Cys) | |
X | g.108692778G>A | CA413855323 | COL4A5 | c.4559G>A (p.Ser1520Asn) c.4541G>A (p.Ser1514Asn) n.1053G>A c.325-3519G>A c.4550G>A (p.Ser1517Asn) c.4235G>A (p.Ser1412Asn) c.2132G>A (p.Ser711Asn) c.4574G>A (p.Ser1525Asn) c.4565G>A (p.Ser1522Asn) c.4556G>A (p.Ser1519Asn) c.2894G>A (p.Ser965Asn) | gnomAD v4 |
X | g.108692778G>C | CA413855325 | COL4A5 | c.4559G>C (p.Ser1520Thr) c.4541G>C (p.Ser1514Thr) n.1053G>C c.325-3519G>C c.4550G>C (p.Ser1517Thr) c.4235G>C (p.Ser1412Thr) c.2132G>C (p.Ser711Thr) c.4574G>C (p.Ser1525Thr) c.4565G>C (p.Ser1522Thr) c.4556G>C (p.Ser1519Thr) c.2894G>C (p.Ser965Thr) | |
X | g.108692778G>T | CA413855327 | COL4A5 | c.4559G>T (p.Ser1520Ile) c.4541G>T (p.Ser1514Ile) n.1053G>T c.325-3519G>T c.4550G>T (p.Ser1517Ile) c.4235G>T (p.Ser1412Ile) c.2132G>T (p.Ser711Ile) c.4574G>T (p.Ser1525Ile) c.4565G>T (p.Ser1522Ile) c.4556G>T (p.Ser1519Ile) c.2894G>T (p.Ser965Ile) | gnomAD v4 |
X | g.108692779T>A | CA413855329 | COL4A5 | c.4560T>A (p.Ser1520Arg) c.4542T>A (p.Ser1514Arg) n.1054T>A c.325-3518T>A c.4551T>A (p.Ser1517Arg) c.4236T>A (p.Ser1412Arg) c.2133T>A (p.Ser711Arg) c.4575T>A (p.Ser1525Arg) c.4566T>A (p.Ser1522Arg) c.4557T>A (p.Ser1519Arg) c.2895T>A (p.Ser965Arg) | |
X | g.108692779T>C | CA517925108 | COL4A5 | c.4560T>C (p.Ser1520=) c.4542T>C (p.Ser1514=) n.1054T>C c.325-3518T>C c.4551T>C (p.Ser1517=) c.4236T>C (p.Ser1412=) c.2133T>C (p.Ser711=) c.4575T>C (p.Ser1525=) c.4566T>C (p.Ser1522=) c.4557T>C (p.Ser1519=) c.2895T>C (p.Ser965=) | |
X | g.108692779T>G | CA413855331 | COL4A5 | c.4560T>G (p.Ser1520Arg) c.4542T>G (p.Ser1514Arg) n.1054T>G c.325-3518T>G c.4551T>G (p.Ser1517Arg) c.4236T>G (p.Ser1412Arg) c.2133T>G (p.Ser711Arg) c.4575T>G (p.Ser1525Arg) c.4566T>G (p.Ser1522Arg) c.4557T>G (p.Ser1519Arg) c.2895T>G (p.Ser965Arg) | |
X | g.108692780A= | CA2450720845 | COL4A5 | c.4561A= (p.Thr1521=) c.4543A= (p.Thr1515=) n.1055A= c.325-3517A= c.4552A= (p.Thr1518=) c.4237A= (p.Thr1413=) c.2134A= (p.Thr712=) c.4576A= (p.Thr1526=) c.4567A= (p.Thr1523=) c.4558A= (p.Thr1520=) c.2896A= (p.Thr966=) | |
X | g.108692780A>C | CA413855336 | COL4A5 | c.4561A>C (p.Thr1521Pro) c.4543A>C (p.Thr1515Pro) n.1055A>C c.325-3517A>C c.4552A>C (p.Thr1518Pro) c.4237A>C (p.Thr1413Pro) c.2134A>C (p.Thr712Pro) c.4576A>C (p.Thr1526Pro) c.4567A>C (p.Thr1523Pro) c.4558A>C (p.Thr1520Pro) c.2896A>C (p.Thr966Pro) | |
X | g.108692780A>G | CA334061571 | COL4A5 | c.4561A>G (p.Thr1521Ala) c.4543A>G (p.Thr1515Ala) n.1055A>G c.325-3517A>G c.4552A>G (p.Thr1518Ala) c.4237A>G (p.Thr1413Ala) c.2134A>G (p.Thr712Ala) c.4576A>G (p.Thr1526Ala) c.4567A>G (p.Thr1523Ala) c.4558A>G (p.Thr1520Ala) c.2896A>G (p.Thr966Ala) | dbSNP |
X | g.108692780A>T | CA413855333 | COL4A5 | c.4561A>T (p.Thr1521Ser) c.4543A>T (p.Thr1515Ser) n.1055A>T c.325-3517A>T c.4552A>T (p.Thr1518Ser) c.4237A>T (p.Thr1413Ser) c.2134A>T (p.Thr712Ser) c.4576A>T (p.Thr1526Ser) c.4567A>T (p.Thr1523Ser) c.4558A>T (p.Thr1520Ser) c.2896A>T (p.Thr966Ser) | |
X | g.108692781C>A | CA413855338 | COL4A5 | c.4562C>A (p.Thr1521Asn) c.4544C>A (p.Thr1515Asn) n.1056C>A c.325-3516C>A c.4553C>A (p.Thr1518Asn) c.4238C>A (p.Thr1413Asn) c.2135C>A (p.Thr712Asn) c.4577C>A (p.Thr1526Asn) c.4568C>A (p.Thr1523Asn) c.4559C>A (p.Thr1520Asn) c.2897C>A (p.Thr966Asn) | |
X | g.108692781C>G | CA413855340 | COL4A5 | c.4562C>G (p.Thr1521Ser) c.4544C>G (p.Thr1515Ser) n.1056C>G c.325-3516C>G c.4553C>G (p.Thr1518Ser) c.4238C>G (p.Thr1413Ser) c.2135C>G (p.Thr712Ser) c.4577C>G (p.Thr1526Ser) c.4568C>G (p.Thr1523Ser) c.4559C>G (p.Thr1520Ser) c.2897C>G (p.Thr966Ser) | |
X | g.108692781C>T | CA413855342 | COL4A5 | c.4562C>T (p.Thr1521Ile) c.4544C>T (p.Thr1515Ile) n.1056C>T c.325-3516C>T c.4553C>T (p.Thr1518Ile) c.4238C>T (p.Thr1413Ile) c.2135C>T (p.Thr712Ile) c.4577C>T (p.Thr1526Ile) c.4568C>T (p.Thr1523Ile) c.4559C>T (p.Thr1520Ile) c.2897C>T (p.Thr966Ile) | COSMIC COSMIC |
X | g.108692782C>A | CA517925111 | COL4A5 | c.4563C>A (p.Thr1521=) c.4545C>A (p.Thr1515=) n.1057C>A c.325-3515C>A c.4554C>A (p.Thr1518=) c.4239C>A (p.Thr1413=) c.2136C>A (p.Thr712=) c.4578C>A (p.Thr1526=) c.4569C>A (p.Thr1523=) c.4560C>A (p.Thr1520=) c.2898C>A (p.Thr966=) | |
X | g.108692782C>G | CA517925113 | COL4A5 | c.4563C>G (p.Thr1521=) c.4545C>G (p.Thr1515=) n.1057C>G c.325-3515C>G c.4554C>G (p.Thr1518=) c.4239C>G (p.Thr1413=) c.2136C>G (p.Thr712=) c.4578C>G (p.Thr1526=) c.4569C>G (p.Thr1523=) c.4560C>G (p.Thr1520=) c.2898C>G (p.Thr966=) | |
X | g.108692782C>T | CA517925114 | COL4A5 | c.4563C>T (p.Thr1521=) c.4545C>T (p.Thr1515=) n.1057C>T c.325-3515C>T c.4554C>T (p.Thr1518=) c.4239C>T (p.Thr1413=) c.2136C>T (p.Thr712=) c.4578C>T (p.Thr1526=) c.4569C>T (p.Thr1523=) c.4560C>T (p.Thr1520=) c.2898C>T (p.Thr966=) | |
X | g.108692783A>C | CA413855344 | COL4A5 | c.4564A>C (p.Met1522Leu) c.4546A>C (p.Met1516Leu) n.1058A>C c.325-3514A>C c.4555A>C (p.Met1519Leu) c.4240A>C (p.Met1414Leu) c.2137A>C (p.Met713Leu) c.4579A>C (p.Met1527Leu) c.4570A>C (p.Met1524Leu) c.4561A>C (p.Met1521Leu) c.2899A>C (p.Met967Leu) | |
X | g.108692783A>G | CA413855345 | COL4A5 | c.4564A>G (p.Met1522Val) c.4546A>G (p.Met1516Val) n.1058A>G c.325-3514A>G c.4555A>G (p.Met1519Val) c.4240A>G (p.Met1414Val) c.2137A>G (p.Met713Val) c.4579A>G (p.Met1527Val) c.4570A>G (p.Met1524Val) c.4561A>G (p.Met1521Val) c.2899A>G (p.Met967Val) | |
X | g.108692783A>T | CA413855347 | COL4A5 | c.4564A>T (p.Met1522Leu) c.4546A>T (p.Met1516Leu) n.1058A>T c.325-3514A>T c.4555A>T (p.Met1519Leu) c.4240A>T (p.Met1414Leu) c.2137A>T (p.Met713Leu) c.4579A>T (p.Met1527Leu) c.4570A>T (p.Met1524Leu) c.4561A>T (p.Met1521Leu) c.2899A>T (p.Met967Leu) | |
X | g.108692784T>A | CA413855349 | COL4A5 | c.4565T>A (p.Met1522Lys) c.4547T>A (p.Met1516Lys) n.1059T>A c.325-3513T>A c.4556T>A (p.Met1519Lys) c.4241T>A (p.Met1414Lys) c.2138T>A (p.Met713Lys) c.4580T>A (p.Met1527Lys) c.4571T>A (p.Met1524Lys) c.4562T>A (p.Met1521Lys) c.2900T>A (p.Met967Lys) | |
X | g.108692784T>C | CA413855351 | COL4A5 | c.4565T>C (p.Met1522Thr) c.4547T>C (p.Met1516Thr) n.1059T>C c.325-3513T>C c.4556T>C (p.Met1519Thr) c.4241T>C (p.Met1414Thr) c.2138T>C (p.Met713Thr) c.4580T>C (p.Met1527Thr) c.4571T>C (p.Met1524Thr) c.4562T>C (p.Met1521Thr) c.2900T>C (p.Met967Thr) | |
X | g.108692784T>G | CA413855352 | COL4A5 | c.4565T>G (p.Met1522Arg) c.4547T>G (p.Met1516Arg) n.1059T>G c.325-3513T>G c.4556T>G (p.Met1519Arg) c.4241T>G (p.Met1414Arg) c.2138T>G (p.Met713Arg) c.4580T>G (p.Met1527Arg) c.4571T>G (p.Met1524Arg) c.4562T>G (p.Met1521Arg) c.2900T>G (p.Met967Arg) | |
X | g.108692784dup | CA2695235243 | COL4A5 | c.4565dup (p.Met1522IlefsTer10) c.4547dup (p.Met1516IlefsTer10) n.1059dup c.325-3513dup c.4556dup (p.Met1519IlefsTer10) c.4241dup (p.Met1414IlefsTer10) c.2138dup (p.Met713IlefsTer10) c.4580dup (p.Met1527IlefsTer10) c.4571dup (p.Met1524IlefsTer10) c.4562dup (p.Met1521IlefsTer10) c.2900dup (p.Met967IlefsTer10) | |
X | g.108692785G>A | CA413855354 | COL4A5 | c.4566G>A (p.Met1522Ile) c.4548G>A (p.Met1516Ile) n.1060G>A c.325-3512G>A c.4557G>A (p.Met1519Ile) c.4242G>A (p.Met1414Ile) c.2139G>A (p.Met713Ile) c.4581G>A (p.Met1527Ile) c.4572G>A (p.Met1524Ile) c.4563G>A (p.Met1521Ile) c.2901G>A (p.Met967Ile) | |
X | g.108692785G>C | CA413855356 | COL4A5 | c.4566G>C (p.Met1522Ile) c.4548G>C (p.Met1516Ile) n.1060G>C c.325-3512G>C c.4557G>C (p.Met1519Ile) c.4242G>C (p.Met1414Ile) c.2139G>C (p.Met713Ile) c.4581G>C (p.Met1527Ile) c.4572G>C (p.Met1524Ile) c.4563G>C (p.Met1521Ile) c.2901G>C (p.Met967Ile) | COSMIC |
X | g.108692785G>T | CA413855358 | COL4A5 | c.4566G>T (p.Met1522Ile) c.4548G>T (p.Met1516Ile) n.1060G>T c.325-3512G>T c.4557G>T (p.Met1519Ile) c.4242G>T (p.Met1414Ile) c.2139G>T (p.Met713Ile) c.4581G>T (p.Met1527Ile) c.4572G>T (p.Met1524Ile) c.4563G>T (p.Met1521Ile) c.2901G>T (p.Met967Ile) | |
X | g.108692786C>A | CA259065 | COL4A5 | c.4567C>A (p.Pro1523Thr) c.4549C>A (p.Pro1517Thr) n.1061C>A c.325-3511C>A c.4558C>A (p.Pro1520Thr) c.4243C>A (p.Pro1415Thr) c.2140C>A (p.Pro714Thr) c.4582C>A (p.Pro1528Thr) c.4573C>A (p.Pro1525Thr) c.4564C>A (p.Pro1522Thr) c.2902C>A (p.Pro968Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108692786C= | CA2450720846 | COL4A5 | c.4567C= (p.Pro1523=) c.4549C= (p.Pro1517=) n.1061C= c.325-3511C= c.4558C= (p.Pro1520=) c.4243C= (p.Pro1415=) c.2140C= (p.Pro714=) c.4582C= (p.Pro1528=) c.4573C= (p.Pro1525=) c.4564C= (p.Pro1522=) c.2902C= (p.Pro968=) | |
X | g.108692786C>G | CA413855362 | COL4A5 | c.4567C>G (p.Pro1523Ala) c.4549C>G (p.Pro1517Ala) n.1061C>G c.325-3511C>G c.4558C>G (p.Pro1520Ala) c.4243C>G (p.Pro1415Ala) c.2140C>G (p.Pro714Ala) c.4582C>G (p.Pro1528Ala) c.4573C>G (p.Pro1525Ala) c.4564C>G (p.Pro1522Ala) c.2902C>G (p.Pro968Ala) | dbSNP |
X | g.108692786C>T | CA413855360 | COL4A5 | c.4567C>T (p.Pro1523Ser) c.4549C>T (p.Pro1517Ser) n.1061C>T c.325-3511C>T c.4558C>T (p.Pro1520Ser) c.4243C>T (p.Pro1415Ser) c.2140C>T (p.Pro714Ser) c.4582C>T (p.Pro1528Ser) c.4573C>T (p.Pro1525Ser) c.4564C>T (p.Pro1522Ser) c.2902C>T (p.Pro968Ser) | |
X | g.108692787C>A | CA413855365 | COL4A5 | c.4568C>A (p.Pro1523His) c.4550C>A (p.Pro1517His) n.1062C>A c.325-3510C>A c.4559C>A (p.Pro1520His) c.4244C>A (p.Pro1415His) c.2141C>A (p.Pro714His) c.4583C>A (p.Pro1528His) c.4574C>A (p.Pro1525His) c.4565C>A (p.Pro1522His) c.2903C>A (p.Pro968His) | |
X | g.108692787C= | CA2450720847 | COL4A5 | c.4568C= (p.Pro1523=) c.4550C= (p.Pro1517=) n.1062C= c.325-3510C= c.4559C= (p.Pro1520=) c.4244C= (p.Pro1415=) c.2141C= (p.Pro714=) c.4583C= (p.Pro1528=) c.4574C= (p.Pro1525=) c.4565C= (p.Pro1522=) c.2903C= (p.Pro968=) | |
X | g.108692787C>G | CA413855368 | COL4A5 | c.4568C>G (p.Pro1523Arg) c.4550C>G (p.Pro1517Arg) n.1062C>G c.325-3510C>G c.4559C>G (p.Pro1520Arg) c.4244C>G (p.Pro1415Arg) c.2141C>G (p.Pro714Arg) c.4583C>G (p.Pro1528Arg) c.4574C>G (p.Pro1525Arg) c.4565C>G (p.Pro1522Arg) c.2903C>G (p.Pro968Arg) | ClinVar dbSNP gnomAD v4 |
X | g.108692787C>T | CA413855367 | COL4A5 | c.4568C>T (p.Pro1523Leu) c.4550C>T (p.Pro1517Leu) n.1062C>T c.325-3510C>T c.4559C>T (p.Pro1520Leu) c.4244C>T (p.Pro1415Leu) c.2141C>T (p.Pro714Leu) c.4583C>T (p.Pro1528Leu) c.4574C>T (p.Pro1525Leu) c.4565C>T (p.Pro1522Leu) c.2903C>T (p.Pro968Leu) | gnomAD v4 |
X | g.108692788T>A | CA517925125 | COL4A5 | c.4569T>A (p.Pro1523=) c.4551T>A (p.Pro1517=) n.1063T>A c.325-3509T>A c.4560T>A (p.Pro1520=) c.4245T>A (p.Pro1415=) c.2142T>A (p.Pro714=) c.4584T>A (p.Pro1528=) c.4575T>A (p.Pro1525=) c.4566T>A (p.Pro1522=) c.2904T>A (p.Pro968=) | gnomAD v4 COSMIC COSMIC |
X | g.108692788T>C | CA517925128 | COL4A5 | c.4569T>C (p.Pro1523=) c.4551T>C (p.Pro1517=) n.1063T>C c.325-3509T>C c.4560T>C (p.Pro1520=) c.4245T>C (p.Pro1415=) c.2142T>C (p.Pro714=) c.4584T>C (p.Pro1528=) c.4575T>C (p.Pro1525=) c.4566T>C (p.Pro1522=) c.2904T>C (p.Pro968=) | gnomAD v4 |
X | g.108692788T>G | CA517925129 | COL4A5 | c.4569T>G (p.Pro1523=) c.4551T>G (p.Pro1517=) n.1063T>G c.325-3509T>G c.4560T>G (p.Pro1520=) c.4245T>G (p.Pro1415=) c.2142T>G (p.Pro714=) c.4584T>G (p.Pro1528=) c.4575T>G (p.Pro1525=) c.4566T>G (p.Pro1522=) c.2904T>G (p.Pro968=) | |
X | g.108692789T>A | CA413855372 | COL4A5 | c.4570T>A (p.Phe1524Ile) c.4552T>A (p.Phe1518Ile) n.1064T>A c.325-3508T>A c.4561T>A (p.Phe1521Ile) c.4246T>A (p.Phe1416Ile) c.2143T>A (p.Phe715Ile) c.4585T>A (p.Phe1529Ile) c.4576T>A (p.Phe1526Ile) c.4567T>A (p.Phe1523Ile) c.2905T>A (p.Phe969Ile) | |
X | g.108692789T>C | CA413855373 | COL4A5 | c.4570T>C (p.Phe1524Leu) c.4552T>C (p.Phe1518Leu) n.1064T>C c.325-3508T>C c.4561T>C (p.Phe1521Leu) c.4246T>C (p.Phe1416Leu) c.2143T>C (p.Phe715Leu) c.4585T>C (p.Phe1529Leu) c.4576T>C (p.Phe1526Leu) c.4567T>C (p.Phe1523Leu) c.2905T>C (p.Phe969Leu) | |
X | g.108692789T>G | CA413855374 | COL4A5 | c.4570T>G (p.Phe1524Val) c.4552T>G (p.Phe1518Val) n.1064T>G c.325-3508T>G c.4561T>G (p.Phe1521Val) c.4246T>G (p.Phe1416Val) c.2143T>G (p.Phe715Val) c.4585T>G (p.Phe1529Val) c.4576T>G (p.Phe1526Val) c.4567T>G (p.Phe1523Val) c.2905T>G (p.Phe969Val) | ClinVar dbSNP |
X | g.108692790T>A | CA413855376 | COL4A5 | c.4571T>A (p.Phe1524Tyr) c.4553T>A (p.Phe1518Tyr) n.1065T>A c.325-3507T>A c.4562T>A (p.Phe1521Tyr) c.4247T>A (p.Phe1416Tyr) c.2144T>A (p.Phe715Tyr) c.4586T>A (p.Phe1529Tyr) c.4577T>A (p.Phe1526Tyr) c.4568T>A (p.Phe1523Tyr) c.2906T>A (p.Phe969Tyr) | |
X | g.108692790T>C | CA413855378 | COL4A5 | c.4571T>C (p.Phe1524Ser) c.4553T>C (p.Phe1518Ser) n.1065T>C c.325-3507T>C c.4562T>C (p.Phe1521Ser) c.4247T>C (p.Phe1416Ser) c.2144T>C (p.Phe715Ser) c.4586T>C (p.Phe1529Ser) c.4577T>C (p.Phe1526Ser) c.4568T>C (p.Phe1523Ser) c.2906T>C (p.Phe969Ser) | |
X | g.108692790T>G | CA413855379 | COL4A5 | c.4571T>G (p.Phe1524Cys) c.4553T>G (p.Phe1518Cys) n.1065T>G c.325-3507T>G c.4562T>G (p.Phe1521Cys) c.4247T>G (p.Phe1416Cys) c.2144T>G (p.Phe715Cys) c.4586T>G (p.Phe1529Cys) c.4577T>G (p.Phe1526Cys) c.4568T>G (p.Phe1523Cys) c.2906T>G (p.Phe969Cys) | |
X | g.108692791C>A | CA413855381 | COL4A5 | c.4572C>A (p.Phe1524Leu) c.4554C>A (p.Phe1518Leu) n.1066C>A c.325-3506C>A c.4563C>A (p.Phe1521Leu) c.4248C>A (p.Phe1416Leu) c.2145C>A (p.Phe715Leu) c.4587C>A (p.Phe1529Leu) c.4578C>A (p.Phe1526Leu) c.4569C>A (p.Phe1523Leu) c.2907C>A (p.Phe969Leu) | |
X | g.108692791C>G | CA413855383 | COL4A5 | c.4572C>G (p.Phe1524Leu) c.4554C>G (p.Phe1518Leu) n.1066C>G c.325-3506C>G c.4563C>G (p.Phe1521Leu) c.4248C>G (p.Phe1416Leu) c.2145C>G (p.Phe715Leu) c.4587C>G (p.Phe1529Leu) c.4578C>G (p.Phe1526Leu) c.4569C>G (p.Phe1523Leu) c.2907C>G (p.Phe969Leu) | |
X | g.108692791C>T | CA517925139 | COL4A5 | c.4572C>T (p.Phe1524=) c.4554C>T (p.Phe1518=) n.1066C>T c.325-3506C>T c.4563C>T (p.Phe1521=) c.4248C>T (p.Phe1416=) c.2145C>T (p.Phe715=) c.4587C>T (p.Phe1529=) c.4578C>T (p.Phe1526=) c.4569C>T (p.Phe1523=) c.2907C>T (p.Phe969=) | |
X | g.108692792A= | CA2450720848 | COL4A5 | c.4573A= (p.Met1525=) c.4555A= (p.Met1519=) n.1067A= c.325-3505A= c.4564A= (p.Met1522=) c.4249A= (p.Met1417=) c.2146A= (p.Met716=) c.4588A= (p.Met1530=) c.4579A= (p.Met1527=) c.4570A= (p.Met1524=) c.2908A= (p.Met970=) | |
X | g.108692792A>C | CA413855385 | COL4A5 | c.4573A>C (p.Met1525Leu) c.4555A>C (p.Met1519Leu) n.1067A>C c.325-3505A>C c.4564A>C (p.Met1522Leu) c.4249A>C (p.Met1417Leu) c.2146A>C (p.Met716Leu) c.4588A>C (p.Met1530Leu) c.4579A>C (p.Met1527Leu) c.4570A>C (p.Met1524Leu) c.2908A>C (p.Met970Leu) | |
X | g.108692792A>G | CA10489383 | COL4A5 | c.4573A>G (p.Met1525Val) c.4555A>G (p.Met1519Val) n.1067A>G c.325-3505A>G c.4564A>G (p.Met1522Val) c.4249A>G (p.Met1417Val) c.2146A>G (p.Met716Val) c.4588A>G (p.Met1530Val) c.4579A>G (p.Met1527Val) c.4570A>G (p.Met1524Val) c.2908A>G (p.Met970Val) | dbSNP ExAC gnomAD v2 |
X | g.108692792A>T | CA413855388 | COL4A5 | c.4573A>T (p.Met1525Leu) c.4555A>T (p.Met1519Leu) n.1067A>T c.325-3505A>T c.4564A>T (p.Met1522Leu) c.4249A>T (p.Met1417Leu) c.2146A>T (p.Met716Leu) c.4588A>T (p.Met1530Leu) c.4579A>T (p.Met1527Leu) c.4570A>T (p.Met1524Leu) c.2908A>T (p.Met970Leu) | |
X | g.108692793T>A | CA413855394 | COL4A5 | c.4574T>A (p.Met1525Lys) c.4556T>A (p.Met1519Lys) n.1068T>A c.325-3504T>A c.4565T>A (p.Met1522Lys) c.4250T>A (p.Met1417Lys) c.2147T>A (p.Met716Lys) c.4589T>A (p.Met1530Lys) c.4580T>A (p.Met1527Lys) c.4571T>A (p.Met1524Lys) c.2909T>A (p.Met970Lys) | |
X | g.108692793T>C | CA413855392 | COL4A5 | c.4574T>C (p.Met1525Thr) c.4556T>C (p.Met1519Thr) n.1068T>C c.325-3504T>C c.4565T>C (p.Met1522Thr) c.4250T>C (p.Met1417Thr) c.2147T>C (p.Met716Thr) c.4589T>C (p.Met1530Thr) c.4580T>C (p.Met1527Thr) c.4571T>C (p.Met1524Thr) c.2909T>C (p.Met970Thr) | gnomAD v4 |
X | g.108692793T>G | CA413855390 | COL4A5 | c.4574T>G (p.Met1525Arg) c.4556T>G (p.Met1519Arg) n.1068T>G c.325-3504T>G c.4565T>G (p.Met1522Arg) c.4250T>G (p.Met1417Arg) c.2147T>G (p.Met716Arg) c.4589T>G (p.Met1530Arg) c.4580T>G (p.Met1527Arg) c.4571T>G (p.Met1524Arg) c.2909T>G (p.Met970Arg) | |
X | g.108692793dup | CA2573159119 | COL4A5 | c.4574dup (p.Met1525IlefsTer7) c.4556dup (p.Met1519IlefsTer7) n.1068dup c.325-3504dup c.4565dup (p.Met1522IlefsTer7) c.4250dup (p.Met1417IlefsTer7) c.2147dup (p.Met716IlefsTer7) c.4589dup (p.Met1530IlefsTer7) c.4580dup (p.Met1527IlefsTer7) c.4571dup (p.Met1524IlefsTer7) c.2909dup (p.Met970IlefsTer7) | ClinVar dbSNP |
X | g.108692794G>A | CA413855396 | COL4A5 | c.4575G>A (p.Met1525Ile) c.4557G>A (p.Met1519Ile) n.1069G>A c.325-3503G>A c.4566G>A (p.Met1522Ile) c.4251G>A (p.Met1417Ile) c.2148G>A (p.Met716Ile) c.4590G>A (p.Met1530Ile) c.4581G>A (p.Met1527Ile) c.4572G>A (p.Met1524Ile) c.2910G>A (p.Met970Ile) | |
X | g.108692794G>C | CA413855398 | COL4A5 | c.4575G>C (p.Met1525Ile) c.4557G>C (p.Met1519Ile) n.1069G>C c.325-3503G>C c.4566G>C (p.Met1522Ile) c.4251G>C (p.Met1417Ile) c.2148G>C (p.Met716Ile) c.4590G>C (p.Met1530Ile) c.4581G>C (p.Met1527Ile) c.4572G>C (p.Met1524Ile) c.2910G>C (p.Met970Ile) | ClinVar dbSNP |
X | g.108692794G>T | CA413855400 | COL4A5 | c.4575G>T (p.Met1525Ile) c.4557G>T (p.Met1519Ile) n.1069G>T c.325-3503G>T c.4566G>T (p.Met1522Ile) c.4251G>T (p.Met1417Ile) c.2148G>T (p.Met716Ile) c.4590G>T (p.Met1530Ile) c.4581G>T (p.Met1527Ile) c.4572G>T (p.Met1524Ile) c.2910G>T (p.Met970Ile) | |
X | g.108692795T>A | CA413855402 | COL4A5 | c.4576T>A (p.Phe1526Ile) c.4558T>A (p.Phe1520Ile) n.1070T>A c.325-3502T>A c.4567T>A (p.Phe1523Ile) c.4252T>A (p.Phe1418Ile) c.2149T>A (p.Phe717Ile) c.4591T>A (p.Phe1531Ile) c.4582T>A (p.Phe1528Ile) c.4573T>A (p.Phe1525Ile) c.2911T>A (p.Phe971Ile) | |
X | g.108692795T>C | CA413855404 | COL4A5 | c.4576T>C (p.Phe1526Leu) c.4558T>C (p.Phe1520Leu) n.1070T>C c.325-3502T>C c.4567T>C (p.Phe1523Leu) c.4252T>C (p.Phe1418Leu) c.2149T>C (p.Phe717Leu) c.4591T>C (p.Phe1531Leu) c.4582T>C (p.Phe1528Leu) c.4573T>C (p.Phe1525Leu) c.2911T>C (p.Phe971Leu) | |
X | g.108692795T>G | CA413855406 | COL4A5 | c.4576T>G (p.Phe1526Val) c.4558T>G (p.Phe1520Val) n.1070T>G c.325-3502T>G c.4567T>G (p.Phe1523Val) c.4252T>G (p.Phe1418Val) c.2149T>G (p.Phe717Val) c.4591T>G (p.Phe1531Val) c.4582T>G (p.Phe1528Val) c.4573T>G (p.Phe1525Val) c.2911T>G (p.Phe971Val) | |
X | g.108692796T>A | CA413855408 | COL4A5 | c.4577T>A (p.Phe1526Tyr) c.4559T>A (p.Phe1520Tyr) n.1071T>A c.325-3501T>A c.4568T>A (p.Phe1523Tyr) c.4253T>A (p.Phe1418Tyr) c.2150T>A (p.Phe717Tyr) c.4592T>A (p.Phe1531Tyr) c.4583T>A (p.Phe1528Tyr) c.4574T>A (p.Phe1525Tyr) c.2912T>A (p.Phe971Tyr) | |
X | g.108692796T>C | CA413855410 | COL4A5 | c.4577T>C (p.Phe1526Ser) c.4559T>C (p.Phe1520Ser) n.1071T>C c.325-3501T>C c.4568T>C (p.Phe1523Ser) c.4253T>C (p.Phe1418Ser) c.2150T>C (p.Phe717Ser) c.4592T>C (p.Phe1531Ser) c.4583T>C (p.Phe1528Ser) c.4574T>C (p.Phe1525Ser) c.2912T>C (p.Phe971Ser) | |
X | g.108692796T>G | CA413855411 | COL4A5 | c.4577T>G (p.Phe1526Cys) c.4559T>G (p.Phe1520Cys) n.1071T>G c.325-3501T>G c.4568T>G (p.Phe1523Cys) c.4253T>G (p.Phe1418Cys) c.2150T>G (p.Phe717Cys) c.4592T>G (p.Phe1531Cys) c.4583T>G (p.Phe1528Cys) c.4574T>G (p.Phe1525Cys) c.2912T>G (p.Phe971Cys) | |
X | g.108692797C>A | CA413855413 | COL4A5 | c.4578C>A (p.Phe1526Leu) c.4560C>A (p.Phe1520Leu) n.1072C>A c.325-3500C>A c.4569C>A (p.Phe1523Leu) c.4254C>A (p.Phe1418Leu) c.2151C>A (p.Phe717Leu) c.4593C>A (p.Phe1531Leu) c.4584C>A (p.Phe1528Leu) c.4575C>A (p.Phe1525Leu) c.2913C>A (p.Phe971Leu) | |
X | g.108692797C= | CA2450720849 | COL4A5 | c.4578C= (p.Phe1526=) c.4560C= (p.Phe1520=) n.1072C= c.325-3500C= c.4569C= (p.Phe1523=) c.4254C= (p.Phe1418=) c.2151C= (p.Phe717=) c.4593C= (p.Phe1531=) c.4584C= (p.Phe1528=) c.4575C= (p.Phe1525=) c.2913C= (p.Phe971=) | |
X | g.108692797C>G | CA413855415 | COL4A5 | c.4578C>G (p.Phe1526Leu) c.4560C>G (p.Phe1520Leu) n.1072C>G c.325-3500C>G c.4569C>G (p.Phe1523Leu) c.4254C>G (p.Phe1418Leu) c.2151C>G (p.Phe717Leu) c.4593C>G (p.Phe1531Leu) c.4584C>G (p.Phe1528Leu) c.4575C>G (p.Phe1525Leu) c.2913C>G (p.Phe971Leu) | |
X | g.108692797C>T | CA517925150 | COL4A5 | c.4578C>T (p.Phe1526=) c.4560C>T (p.Phe1520=) n.1072C>T c.325-3500C>T c.4569C>T (p.Phe1523=) c.4254C>T (p.Phe1418=) c.2151C>T (p.Phe717=) c.4593C>T (p.Phe1531=) c.4584C>T (p.Phe1528=) c.4575C>T (p.Phe1525=) c.2913C>T (p.Phe971=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108692798T>A | CA10489384 | COL4A5 | c.4579T>A (p.Cys1527Ser) c.4561T>A (p.Cys1521Ser) n.1073T>A c.325-3499T>A c.4570T>A (p.Cys1524Ser) c.4255T>A (p.Cys1419Ser) c.2152T>A (p.Cys718Ser) c.4594T>A (p.Cys1532Ser) c.4585T>A (p.Cys1529Ser) c.4576T>A (p.Cys1526Ser) c.2914T>A (p.Cys972Ser) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.108692798T>C | CA413855419 | COL4A5 | c.4579T>C (p.Cys1527Arg) c.4561T>C (p.Cys1521Arg) n.1073T>C c.325-3499T>C c.4570T>C (p.Cys1524Arg) c.4255T>C (p.Cys1419Arg) c.2152T>C (p.Cys718Arg) c.4594T>C (p.Cys1532Arg) c.4585T>C (p.Cys1529Arg) c.4576T>C (p.Cys1526Arg) c.2914T>C (p.Cys972Arg) | |
X | g.108692798T>G | CA413855417 | COL4A5 | c.4579T>G (p.Cys1527Gly) c.4561T>G (p.Cys1521Gly) n.1073T>G c.325-3499T>G c.4570T>G (p.Cys1524Gly) c.4255T>G (p.Cys1419Gly) c.2152T>G (p.Cys718Gly) c.4594T>G (p.Cys1532Gly) c.4585T>G (p.Cys1529Gly) c.4576T>G (p.Cys1526Gly) c.2914T>G (p.Cys972Gly) | |
X | g.108692798T= | CA2450720850 | COL4A5 | c.4579T= (p.Cys1527=) c.4561T= (p.Cys1521=) n.1073T= c.325-3499T= c.4570T= (p.Cys1524=) c.4255T= (p.Cys1419=) c.2152T= (p.Cys718=) c.4594T= (p.Cys1532=) c.4585T= (p.Cys1529=) c.4576T= (p.Cys1526=) c.2914T= (p.Cys972=) | |
X | g.108692799G>A | CA413855422 | COL4A5 | c.4580G>A (p.Cys1527Tyr) c.4562G>A (p.Cys1521Tyr) n.1074G>A c.325-3498G>A c.4571G>A (p.Cys1524Tyr) c.4256G>A (p.Cys1419Tyr) c.2153G>A (p.Cys718Tyr) c.4595G>A (p.Cys1532Tyr) c.4586G>A (p.Cys1529Tyr) c.4577G>A (p.Cys1526Tyr) c.2915G>A (p.Cys972Tyr) | COSMIC COSMIC |
X | g.108692799G>C | CA413855423 | COL4A5 | c.4580G>C (p.Cys1527Ser) c.4562G>C (p.Cys1521Ser) n.1074G>C c.325-3498G>C c.4571G>C (p.Cys1524Ser) c.4256G>C (p.Cys1419Ser) c.2153G>C (p.Cys718Ser) c.4595G>C (p.Cys1532Ser) c.4586G>C (p.Cys1529Ser) c.4577G>C (p.Cys1526Ser) c.2915G>C (p.Cys972Ser) | |
X | g.108692799G>T | CA413855424 | COL4A5 | c.4580G>T (p.Cys1527Phe) c.4562G>T (p.Cys1521Phe) n.1074G>T c.325-3498G>T c.4571G>T (p.Cys1524Phe) c.4256G>T (p.Cys1419Phe) c.2153G>T (p.Cys718Phe) c.4595G>T (p.Cys1532Phe) c.4586G>T (p.Cys1529Phe) c.4577G>T (p.Cys1526Phe) c.2915G>T (p.Cys972Phe) | |
X | g.108692800C>A | CA259068 | COL4A5 | c.4581C>A (p.Cys1527Ter) c.4563C>A (p.Cys1521Ter) n.1075C>A c.325-3497C>A c.4572C>A (p.Cys1524Ter) c.4257C>A (p.Cys1419Ter) c.2154C>A (p.Cys718Ter) c.4596C>A (p.Cys1532Ter) c.4587C>A (p.Cys1529Ter) c.4578C>A (p.Cys1526Ter) c.2916C>A (p.Cys972Ter) | dbSNP |
X | g.108692800C= | CA2450720851 | COL4A5 | c.4581C= (p.Cys1527=) c.4563C= (p.Cys1521=) n.1075C= c.325-3497C= c.4572C= (p.Cys1524=) c.4257C= (p.Cys1419=) c.2154C= (p.Cys718=) c.4596C= (p.Cys1532=) c.4587C= (p.Cys1529=) c.4578C= (p.Cys1526=) c.2916C= (p.Cys972=) | |
X | g.108692800C>G | CA413855427 | COL4A5 | c.4581C>G (p.Cys1527Trp) c.4563C>G (p.Cys1521Trp) n.1075C>G c.325-3497C>G c.4572C>G (p.Cys1524Trp) c.4257C>G (p.Cys1419Trp) c.2154C>G (p.Cys718Trp) c.4596C>G (p.Cys1532Trp) c.4587C>G (p.Cys1529Trp) c.4578C>G (p.Cys1526Trp) c.2916C>G (p.Cys972Trp) | |
X | g.108692800C>T | CA517925160 | COL4A5 | c.4581C>T (p.Cys1527=) c.4563C>T (p.Cys1521=) n.1075C>T c.325-3497C>T c.4572C>T (p.Cys1524=) c.4257C>T (p.Cys1419=) c.2154C>T (p.Cys718=) c.4596C>T (p.Cys1532=) c.4587C>T (p.Cys1529=) c.4578C>T (p.Cys1526=) c.2916C>T (p.Cys972=) | |
X | g.108692800_108692801delinsCA | CA2450720852 | COL4A5 | c.4581_4582delinsCA (p.Cys1527=) c.4563_4564delinsCA (p.Cys1521=) n.1075_1076delinsCA c.325-3497_325-3496delinsCA c.4572_4573delinsCA (p.Cys1524=) c.4257_4258delinsCA (p.Cys1419=) c.2154_2155delinsCA (p.Cys718=) c.4596_4597delinsCA (p.Cys1532=) c.4587_4588delinsCA (p.Cys1529=) c.4578_4579delinsCA (p.Cys1526=) c.2916_2917delinsCA (p.Cys972=) | |
X | g.108692801A= | CA2450720853 | COL4A5 | c.4582A= (p.Asn1528=) c.4564A= (p.Asn1522=) n.1076A= c.325-3496A= c.4573A= (p.Asn1525=) c.4258A= (p.Asn1420=) c.2155A= (p.Asn719=) c.4597A= (p.Asn1533=) c.4588A= (p.Asn1530=) c.4579A= (p.Asn1527=) c.2917A= (p.Asn973=) | |
X | g.108692801A>C | CA413855429 | COL4A5 | c.4582A>C (p.Asn1528His) c.4564A>C (p.Asn1522His) n.1076A>C c.325-3496A>C c.4573A>C (p.Asn1525His) c.4258A>C (p.Asn1420His) c.2155A>C (p.Asn719His) c.4597A>C (p.Asn1533His) c.4588A>C (p.Asn1530His) c.4579A>C (p.Asn1527His) c.2917A>C (p.Asn973His) | |
X | g.108692801A>G | CA413855431 | COL4A5 | c.4582A>G (p.Asn1528Asp) c.4564A>G (p.Asn1522Asp) n.1076A>G c.325-3496A>G c.4573A>G (p.Asn1525Asp) c.4258A>G (p.Asn1420Asp) c.2155A>G (p.Asn719Asp) c.4597A>G (p.Asn1533Asp) c.4588A>G (p.Asn1530Asp) c.4579A>G (p.Asn1527Asp) c.2917A>G (p.Asn973Asp) | dbSNP |
X | g.108692801A>T | CA413855433 | COL4A5 | c.4582A>T (p.Asn1528Tyr) c.4564A>T (p.Asn1522Tyr) n.1076A>T c.325-3496A>T c.4573A>T (p.Asn1525Tyr) c.4258A>T (p.Asn1420Tyr) c.2155A>T (p.Asn719Tyr) c.4597A>T (p.Asn1533Tyr) c.4588A>T (p.Asn1530Tyr) c.4579A>T (p.Asn1527Tyr) c.2917A>T (p.Asn973Tyr) | |
X | g.108692802del | CA891843692 | COL4A5 | c.4583del (p.Asn1528ThrfsTer26) c.4565del (p.Asn1522ThrfsTer26) n.1077del c.325-3495del c.4574del (p.Asn1525ThrfsTer26) c.4259del (p.Asn1420ThrfsTer26) c.2156del (p.Asn719ThrfsTer26) c.4598del (p.Asn1533ThrfsTer26) c.4589del (p.Asn1530ThrfsTer26) c.4580del (p.Asn1527ThrfsTer26) c.2918del (p.Asn973ThrfsTer26) | |
X | g.108692802A= | CA2450720854 | COL4A5 | c.4583A= (p.Asn1528=) c.4565A= (p.Asn1522=) n.1077A= c.325-3495A= c.4574A= (p.Asn1525=) c.4259A= (p.Asn1420=) c.2156A= (p.Asn719=) c.4598A= (p.Asn1533=) c.4589A= (p.Asn1530=) c.4580A= (p.Asn1527=) c.2918A= (p.Asn973=) | |
X | g.108692802A>C | CA413855435 | COL4A5 | c.4583A>C (p.Asn1528Thr) c.4565A>C (p.Asn1522Thr) n.1077A>C c.325-3495A>C c.4574A>C (p.Asn1525Thr) c.4259A>C (p.Asn1420Thr) c.2156A>C (p.Asn719Thr) c.4598A>C (p.Asn1533Thr) c.4589A>C (p.Asn1530Thr) c.4580A>C (p.Asn1527Thr) c.2918A>C (p.Asn973Thr) | |
X | g.108692802A>G | CA413855437 | COL4A5 | c.4583A>G (p.Asn1528Ser) c.4565A>G (p.Asn1522Ser) n.1077A>G c.325-3495A>G c.4574A>G (p.Asn1525Ser) c.4259A>G (p.Asn1420Ser) c.2156A>G (p.Asn719Ser) c.4598A>G (p.Asn1533Ser) c.4589A>G (p.Asn1530Ser) c.4580A>G (p.Asn1527Ser) c.2918A>G (p.Asn973Ser) | dbSNP gnomAD v4 |
X | g.108692802A>T | CA413855439 | COL4A5 | c.4583A>T (p.Asn1528Ile) c.4565A>T (p.Asn1522Ile) n.1077A>T c.325-3495A>T c.4574A>T (p.Asn1525Ile) c.4259A>T (p.Asn1420Ile) c.2156A>T (p.Asn719Ile) c.4598A>T (p.Asn1533Ile) c.4589A>T (p.Asn1530Ile) c.4580A>T (p.Asn1527Ile) c.2918A>T (p.Asn973Ile) | |
X | g.108692802_108692803delinsAC | CA2450720855 | COL4A5 | c.4583_4584delinsAC (p.Asn1528=) c.4565_4566delinsAC (p.Asn1522=) n.1077_1078delinsAC c.325-3495_325-3494delinsAC c.4574_4575delinsAC (p.Asn1525=) c.4259_4260delinsAC (p.Asn1420=) c.2156_2157delinsAC (p.Asn719=) c.4598_4599delinsAC (p.Asn1533=) c.4589_4590delinsAC (p.Asn1530=) c.4580_4581delinsAC (p.Asn1527=) c.2918_2919delinsAC (p.Asn973=) | |
X | g.108692803del | CA2450720856 | COL4A5 | c.4584del (p.Asn1528LysfsTer26) c.4566del (p.Asn1522LysfsTer26) n.1078del c.325-3494del c.4575del (p.Asn1525LysfsTer26) c.4260del (p.Asn1420LysfsTer26) c.2157del (p.Asn719LysfsTer26) c.4599del (p.Asn1533LysfsTer26) c.4590del (p.Asn1530LysfsTer26) c.4581del (p.Asn1527LysfsTer26) c.2919del (p.Asn973LysfsTer26) | dbSNP |
X | g.108692803C>A | CA413855440 | COL4A5 | c.4584C>A (p.Asn1528Lys) c.4566C>A (p.Asn1522Lys) n.1078C>A c.325-3494C>A c.4575C>A (p.Asn1525Lys) c.4260C>A (p.Asn1420Lys) c.2157C>A (p.Asn719Lys) c.4599C>A (p.Asn1533Lys) c.4590C>A (p.Asn1530Lys) c.4581C>A (p.Asn1527Lys) c.2919C>A (p.Asn973Lys) | |
X | g.108692803C>G | CA413855441 | COL4A5 | c.4584C>G (p.Asn1528Lys) c.4566C>G (p.Asn1522Lys) n.1078C>G c.325-3494C>G c.4575C>G (p.Asn1525Lys) c.4260C>G (p.Asn1420Lys) c.2157C>G (p.Asn719Lys) c.4599C>G (p.Asn1533Lys) c.4590C>G (p.Asn1530Lys) c.4581C>G (p.Asn1527Lys) c.2919C>G (p.Asn973Lys) | |
X | g.108692803C>T | CA517925171 | COL4A5 | c.4584C>T (p.Asn1528=) c.4566C>T (p.Asn1522=) n.1078C>T c.325-3494C>T c.4575C>T (p.Asn1525=) c.4260C>T (p.Asn1420=) c.2157C>T (p.Asn719=) c.4599C>T (p.Asn1533=) c.4590C>T (p.Asn1530=) c.4581C>T (p.Asn1527=) c.2919C>T (p.Asn973=) | |
X | g.108692804A= | CA2450720857 | COL4A5 | c.4585A= (p.Ile1529=) c.4567A= (p.Ile1523=) n.1079A= c.325-3493A= c.4576A= (p.Ile1526=) c.4261A= (p.Ile1421=) c.2158A= (p.Ile720=) c.4600A= (p.Ile1534=) c.4591A= (p.Ile1531=) c.4582A= (p.Ile1528=) c.2920A= (p.Ile974=) | |
X | g.108692804A>C | CA10489385 | COL4A5 | c.4585A>C (p.Ile1529Leu) c.4567A>C (p.Ile1523Leu) n.1079A>C c.325-3493A>C c.4576A>C (p.Ile1526Leu) c.4261A>C (p.Ile1421Leu) c.2158A>C (p.Ile720Leu) c.4600A>C (p.Ile1534Leu) c.4591A>C (p.Ile1531Leu) c.4582A>C (p.Ile1528Leu) c.2920A>C (p.Ile974Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108692804A>G | CA413855443 | COL4A5 | c.4585A>G (p.Ile1529Val) c.4567A>G (p.Ile1523Val) n.1079A>G c.325-3493A>G c.4576A>G (p.Ile1526Val) c.4261A>G (p.Ile1421Val) c.2158A>G (p.Ile720Val) c.4600A>G (p.Ile1534Val) c.4591A>G (p.Ile1531Val) c.4582A>G (p.Ile1528Val) c.2920A>G (p.Ile974Val) | gnomAD v4 |
X | g.108692804A>T | CA413855445 | COL4A5 | c.4585A>T (p.Ile1529Phe) c.4567A>T (p.Ile1523Phe) n.1079A>T c.325-3493A>T c.4576A>T (p.Ile1526Phe) c.4261A>T (p.Ile1421Phe) c.2158A>T (p.Ile720Phe) c.4600A>T (p.Ile1534Phe) c.4591A>T (p.Ile1531Phe) c.4582A>T (p.Ile1528Phe) c.2920A>T (p.Ile974Phe) | |
X | g.108692805T>A | CA413855448 | COL4A5 | c.4586T>A (p.Ile1529Asn) c.4568T>A (p.Ile1523Asn) n.1080T>A c.325-3492T>A c.4577T>A (p.Ile1526Asn) c.4262T>A (p.Ile1421Asn) c.2159T>A (p.Ile720Asn) c.4601T>A (p.Ile1534Asn) c.4592T>A (p.Ile1531Asn) c.4583T>A (p.Ile1528Asn) c.2921T>A (p.Ile974Asn) | |
X | g.108692805T>C | CA10489386 | COL4A5 | c.4586T>C (p.Ile1529Thr) c.4568T>C (p.Ile1523Thr) n.1080T>C c.325-3492T>C c.4577T>C (p.Ile1526Thr) c.4262T>C (p.Ile1421Thr) c.2159T>C (p.Ile720Thr) c.4601T>C (p.Ile1534Thr) c.4592T>C (p.Ile1531Thr) c.4583T>C (p.Ile1528Thr) c.2921T>C (p.Ile974Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108692805T>G | CA413855450 | COL4A5 | c.4586T>G (p.Ile1529Ser) c.4568T>G (p.Ile1523Ser) n.1080T>G c.325-3492T>G c.4577T>G (p.Ile1526Ser) c.4262T>G (p.Ile1421Ser) c.2159T>G (p.Ile720Ser) c.4601T>G (p.Ile1534Ser) c.4592T>G (p.Ile1531Ser) c.4583T>G (p.Ile1528Ser) c.2921T>G (p.Ile974Ser) | |
X | g.108692805T= | CA2450720858 | COL4A5 | c.4586T= (p.Ile1529=) c.4568T= (p.Ile1523=) n.1080T= c.325-3492T= c.4577T= (p.Ile1526=) c.4262T= (p.Ile1421=) c.2159T= (p.Ile720=) c.4601T= (p.Ile1534=) c.4592T= (p.Ile1531=) c.4583T= (p.Ile1528=) c.2921T= (p.Ile974=) | |
X | g.108692806del | CA2579677263 | COL4A5 | c.4587del (p.Asn1530IlefsTer24) c.4569del (p.Asn1524IlefsTer24) n.1081del c.325-3491del c.4578del (p.Asn1527IlefsTer24) c.4263del (p.Asn1422IlefsTer24) c.2160del (p.Asn721IlefsTer24) c.4602del (p.Asn1535IlefsTer24) c.4593del (p.Asn1532IlefsTer24) c.4584del (p.Asn1529IlefsTer24) c.2922del (p.Asn975IlefsTer24) | |
X | g.108692806C>A | CA517925176 | COL4A5 | c.4587C>A (p.Ile1529=) c.4569C>A (p.Ile1523=) n.1081C>A c.325-3491C>A c.4578C>A (p.Ile1526=) c.4263C>A (p.Ile1421=) c.2160C>A (p.Ile720=) c.4602C>A (p.Ile1534=) c.4593C>A (p.Ile1531=) c.4584C>A (p.Ile1528=) c.2922C>A (p.Ile974=) | |
X | g.108692806C= | CA2450720859 | COL4A5 | c.4587C= (p.Ile1529=) c.4569C= (p.Ile1523=) n.1081C= c.325-3491C= c.4578C= (p.Ile1526=) c.4263C= (p.Ile1421=) c.2160C= (p.Ile720=) c.4602C= (p.Ile1534=) c.4593C= (p.Ile1531=) c.4584C= (p.Ile1528=) c.2922C= (p.Ile974=) | |
X | g.108692806C>G | CA413855453 | COL4A5 | c.4587C>G (p.Ile1529Met) c.4569C>G (p.Ile1523Met) n.1081C>G c.325-3491C>G c.4578C>G (p.Ile1526Met) c.4263C>G (p.Ile1421Met) c.2160C>G (p.Ile720Met) c.4602C>G (p.Ile1534Met) c.4593C>G (p.Ile1531Met) c.4584C>G (p.Ile1528Met) c.2922C>G (p.Ile974Met) | |
X | g.108692806C>T | CA517925177 | COL4A5 | c.4587C>T (p.Ile1529=) c.4569C>T (p.Ile1523=) n.1081C>T c.325-3491C>T c.4578C>T (p.Ile1526=) c.4263C>T (p.Ile1421=) c.2160C>T (p.Ile720=) c.4602C>T (p.Ile1534=) c.4593C>T (p.Ile1531=) c.4584C>T (p.Ile1528=) c.2922C>T (p.Ile974=) | ClinVar dbSNP |
X | g.108692807A>C | CA413855455 | COL4A5 | c.4588A>C (p.Asn1530His) c.4570A>C (p.Asn1524His) n.1082A>C c.325-3490A>C c.4579A>C (p.Asn1527His) c.4264A>C (p.Asn1422His) c.2161A>C (p.Asn721His) c.4603A>C (p.Asn1535His) c.4594A>C (p.Asn1532His) c.4585A>C (p.Asn1529His) c.2923A>C (p.Asn975His) | |
X | g.108692807A>G | CA413855457 | COL4A5 | c.4588A>G (p.Asn1530Asp) c.4570A>G (p.Asn1524Asp) n.1082A>G c.325-3490A>G c.4579A>G (p.Asn1527Asp) c.4264A>G (p.Asn1422Asp) c.2161A>G (p.Asn721Asp) c.4603A>G (p.Asn1535Asp) c.4594A>G (p.Asn1532Asp) c.4585A>G (p.Asn1529Asp) c.2923A>G (p.Asn975Asp) | |
X | g.108692807A>T | CA413855459 | COL4A5 | c.4588A>T (p.Asn1530Tyr) c.4570A>T (p.Asn1524Tyr) n.1082A>T c.325-3490A>T c.4579A>T (p.Asn1527Tyr) c.4264A>T (p.Asn1422Tyr) c.2161A>T (p.Asn721Tyr) c.4603A>T (p.Asn1535Tyr) c.4594A>T (p.Asn1532Tyr) c.4585A>T (p.Asn1529Tyr) c.2923A>T (p.Asn975Tyr) | |
X | g.108692808A>C | CA413855461 | COL4A5 | c.4589A>C (p.Asn1530Thr) c.4571A>C (p.Asn1524Thr) n.1083A>C c.325-3489A>C c.4580A>C (p.Asn1527Thr) c.4265A>C (p.Asn1422Thr) c.2162A>C (p.Asn721Thr) c.4604A>C (p.Asn1535Thr) c.4595A>C (p.Asn1532Thr) c.4586A>C (p.Asn1529Thr) c.2924A>C (p.Asn975Thr) | |
X | g.108692808A>G | CA413855463 | COL4A5 | c.4589A>G (p.Asn1530Ser) c.4571A>G (p.Asn1524Ser) n.1083A>G c.325-3489A>G c.4580A>G (p.Asn1527Ser) c.4265A>G (p.Asn1422Ser) c.2162A>G (p.Asn721Ser) c.4604A>G (p.Asn1535Ser) c.4595A>G (p.Asn1532Ser) c.4586A>G (p.Asn1529Ser) c.2924A>G (p.Asn975Ser) | gnomAD v4 |
X | g.108692808A>T | CA413855465 | COL4A5 | c.4589A>T (p.Asn1530Ile) c.4571A>T (p.Asn1524Ile) n.1083A>T c.325-3489A>T c.4580A>T (p.Asn1527Ile) c.4265A>T (p.Asn1422Ile) c.2162A>T (p.Asn721Ile) c.4604A>T (p.Asn1535Ile) c.4595A>T (p.Asn1532Ile) c.4586A>T (p.Asn1529Ile) c.2924A>T (p.Asn975Ile) | |
X | g.108692809T>A | CA413855467 | COL4A5 | c.4590T>A (p.Asn1530Lys) c.4572T>A (p.Asn1524Lys) n.1084T>A c.325-3488T>A c.4581T>A (p.Asn1527Lys) c.4266T>A (p.Asn1422Lys) c.2163T>A (p.Asn721Lys) c.4605T>A (p.Asn1535Lys) c.4596T>A (p.Asn1532Lys) c.4587T>A (p.Asn1529Lys) c.2925T>A (p.Asn975Lys) | |
X | g.108692809T>C | CA517925182 | COL4A5 | c.4590T>C (p.Asn1530=) c.4572T>C (p.Asn1524=) n.1084T>C c.325-3488T>C c.4581T>C (p.Asn1527=) c.4266T>C (p.Asn1422=) c.2163T>C (p.Asn721=) c.4605T>C (p.Asn1535=) c.4596T>C (p.Asn1532=) c.4587T>C (p.Asn1529=) c.2925T>C (p.Asn975=) | |
X | g.108692809T>G | CA413855469 | COL4A5 | c.4590T>G (p.Asn1530Lys) c.4572T>G (p.Asn1524Lys) n.1084T>G c.325-3488T>G c.4581T>G (p.Asn1527Lys) c.4266T>G (p.Asn1422Lys) c.2163T>G (p.Asn721Lys) c.4605T>G (p.Asn1535Lys) c.4596T>G (p.Asn1532Lys) c.4587T>G (p.Asn1529Lys) c.2925T>G (p.Asn975Lys) | |
X | g.108692810A>C | CA413855473 | COL4A5 | c.4591A>C (p.Asn1531His) c.4573A>C (p.Asn1525His) n.1085A>C c.325-3487A>C c.4582A>C (p.Asn1528His) c.4267A>C (p.Asn1423His) c.2164A>C (p.Asn722His) c.4606A>C (p.Asn1536His) c.4597A>C (p.Asn1533His) c.4588A>C (p.Asn1530His) c.2926A>C (p.Asn976His) | |
X | g.108692810A>G | CA413855475 | COL4A5 | c.4591A>G (p.Asn1531Asp) c.4573A>G (p.Asn1525Asp) n.1085A>G c.325-3487A>G c.4582A>G (p.Asn1528Asp) c.4267A>G (p.Asn1423Asp) c.2164A>G (p.Asn722Asp) c.4606A>G (p.Asn1536Asp) c.4597A>G (p.Asn1533Asp) c.4588A>G (p.Asn1530Asp) c.2926A>G (p.Asn976Asp) | gnomAD v4 |
X | g.108692810A>T | CA413855471 | COL4A5 | c.4591A>T (p.Asn1531Tyr) c.4573A>T (p.Asn1525Tyr) n.1085A>T c.325-3487A>T c.4582A>T (p.Asn1528Tyr) c.4267A>T (p.Asn1423Tyr) c.2164A>T (p.Asn722Tyr) c.4606A>T (p.Asn1536Tyr) c.4597A>T (p.Asn1533Tyr) c.4588A>T (p.Asn1530Tyr) c.2926A>T (p.Asn976Tyr) | |
X | g.108692811A= | CA2450720860 | COL4A5 | c.4592A= (p.Asn1531=) c.4574A= (p.Asn1525=) n.1086A= c.325-3486A= c.4583A= (p.Asn1528=) c.4268A= (p.Asn1423=) c.2165A= (p.Asn722=) c.4607A= (p.Asn1536=) c.4598A= (p.Asn1533=) c.4589A= (p.Asn1530=) c.2927A= (p.Asn976=) | |
X | g.108692811A>C | CA413855479 | COL4A5 | c.4592A>C (p.Asn1531Thr) c.4574A>C (p.Asn1525Thr) n.1086A>C c.325-3486A>C c.4583A>C (p.Asn1528Thr) c.4268A>C (p.Asn1423Thr) c.2165A>C (p.Asn722Thr) c.4607A>C (p.Asn1536Thr) c.4598A>C (p.Asn1533Thr) c.4589A>C (p.Asn1530Thr) c.2927A>C (p.Asn976Thr) | |
X | g.108692811A>G | CA413855477 | COL4A5 | c.4592A>G (p.Asn1531Ser) c.4574A>G (p.Asn1525Ser) n.1086A>G c.325-3486A>G c.4583A>G (p.Asn1528Ser) c.4268A>G (p.Asn1423Ser) c.2165A>G (p.Asn722Ser) c.4607A>G (p.Asn1536Ser) c.4598A>G (p.Asn1533Ser) c.4589A>G (p.Asn1530Ser) c.2927A>G (p.Asn976Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108692811A>T | CA413855480 | COL4A5 | c.4592A>T (p.Asn1531Ile) c.4574A>T (p.Asn1525Ile) n.1086A>T c.325-3486A>T c.4583A>T (p.Asn1528Ile) c.4268A>T (p.Asn1423Ile) c.2165A>T (p.Asn722Ile) c.4607A>T (p.Asn1536Ile) c.4598A>T (p.Asn1533Ile) c.4589A>T (p.Asn1530Ile) c.2927A>T (p.Asn976Ile) | |
X | g.108692812T>A | CA413855482 | COL4A5 | c.4593T>A (p.Asn1531Lys) c.4575T>A (p.Asn1525Lys) n.1087T>A c.325-3485T>A c.4584T>A (p.Asn1528Lys) c.4269T>A (p.Asn1423Lys) c.2166T>A (p.Asn722Lys) c.4608T>A (p.Asn1536Lys) c.4599T>A (p.Asn1533Lys) c.4590T>A (p.Asn1530Lys) c.2928T>A (p.Asn976Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108692812T>C | CA517925188 | COL4A5 | c.4593T>C (p.Asn1531=) c.4575T>C (p.Asn1525=) n.1087T>C c.325-3485T>C c.4584T>C (p.Asn1528=) c.4269T>C (p.Asn1423=) c.2166T>C (p.Asn722=) c.4608T>C (p.Asn1536=) c.4599T>C (p.Asn1533=) c.4590T>C (p.Asn1530=) c.2928T>C (p.Asn976=) | ClinVar |
X | g.108692812T>G | CA413855484 | COL4A5 | c.4593T>G (p.Asn1531Lys) c.4575T>G (p.Asn1525Lys) n.1087T>G c.325-3485T>G c.4584T>G (p.Asn1528Lys) c.4269T>G (p.Asn1423Lys) c.2166T>G (p.Asn722Lys) c.4608T>G (p.Asn1536Lys) c.4599T>G (p.Asn1533Lys) c.4590T>G (p.Asn1530Lys) c.2928T>G (p.Asn976Lys) | |
X | g.108692812T= | CA2450720861 | COL4A5 | c.4593T= (p.Asn1531=) c.4575T= (p.Asn1525=) n.1087T= c.325-3485T= c.4584T= (p.Asn1528=) c.4269T= (p.Asn1423=) c.2166T= (p.Asn722=) c.4608T= (p.Asn1536=) c.4599T= (p.Asn1533=) c.4590T= (p.Asn1530=) c.2928T= (p.Asn976=) | |
X | g.108692813G>A | CA413855485 | COL4A5 | c.4594G>A (p.Val1532Ile) c.4576G>A (p.Val1526Ile) n.1088G>A c.325-3484G>A c.4585G>A (p.Val1529Ile) c.4270G>A (p.Val1424Ile) c.2167G>A (p.Val723Ile) c.4609G>A (p.Val1537Ile) c.4600G>A (p.Val1534Ile) c.4591G>A (p.Val1531Ile) c.2929G>A (p.Val977Ile) | |
X | g.108692813G>C | CA413855487 | COL4A5 | c.4594G>C (p.Val1532Leu) c.4576G>C (p.Val1526Leu) n.1088G>C c.325-3484G>C c.4585G>C (p.Val1529Leu) c.4270G>C (p.Val1424Leu) c.2167G>C (p.Val723Leu) c.4609G>C (p.Val1537Leu) c.4600G>C (p.Val1534Leu) c.4591G>C (p.Val1531Leu) c.2929G>C (p.Val977Leu) | |
X | g.108692813G>T | CA413855489 | COL4A5 | c.4594G>T (p.Val1532Phe) c.4576G>T (p.Val1526Phe) n.1088G>T c.325-3484G>T c.4585G>T (p.Val1529Phe) c.4270G>T (p.Val1424Phe) c.2167G>T (p.Val723Phe) c.4609G>T (p.Val1537Phe) c.4600G>T (p.Val1534Phe) c.4591G>T (p.Val1531Phe) c.2929G>T (p.Val977Phe) | |
X | g.108692814T>A | CA413855490 | COL4A5 | c.4595T>A (p.Val1532Asp) c.4577T>A (p.Val1526Asp) n.1089T>A c.325-3483T>A c.4586T>A (p.Val1529Asp) c.4271T>A (p.Val1424Asp) c.2168T>A (p.Val723Asp) c.4610T>A (p.Val1537Asp) c.4601T>A (p.Val1534Asp) c.4592T>A (p.Val1531Asp) c.2930T>A (p.Val977Asp) | |
X | g.108692814T>C | CA413855492 | COL4A5 | c.4595T>C (p.Val1532Ala) c.4577T>C (p.Val1526Ala) n.1089T>C c.325-3483T>C c.4586T>C (p.Val1529Ala) c.4271T>C (p.Val1424Ala) c.2168T>C (p.Val723Ala) c.4610T>C (p.Val1537Ala) c.4601T>C (p.Val1534Ala) c.4592T>C (p.Val1531Ala) c.2930T>C (p.Val977Ala) | |
X | g.108692814T>G | CA413855494 | COL4A5 | c.4595T>G (p.Val1532Gly) c.4577T>G (p.Val1526Gly) n.1089T>G c.325-3483T>G c.4586T>G (p.Val1529Gly) c.4271T>G (p.Val1424Gly) c.2168T>G (p.Val723Gly) c.4610T>G (p.Val1537Gly) c.4601T>G (p.Val1534Gly) c.4592T>G (p.Val1531Gly) c.2930T>G (p.Val977Gly) | |
X | g.108692815T>A | CA517925192 | COL4A5 | c.4596T>A (p.Val1532=) c.4578T>A (p.Val1526=) n.1090T>A c.325-3482T>A c.4587T>A (p.Val1529=) c.4272T>A (p.Val1424=) c.2169T>A (p.Val723=) c.4611T>A (p.Val1537=) c.4602T>A (p.Val1534=) c.4593T>A (p.Val1531=) c.2931T>A (p.Val977=) | |
X | g.108692815T>C | CA517925191 | COL4A5 | c.4596T>C (p.Val1532=) c.4578T>C (p.Val1526=) n.1090T>C c.325-3482T>C c.4587T>C (p.Val1529=) c.4272T>C (p.Val1424=) c.2169T>C (p.Val723=) c.4611T>C (p.Val1537=) c.4602T>C (p.Val1534=) c.4593T>C (p.Val1531=) c.2931T>C (p.Val977=) | |
X | g.108692815T>G | CA517925190 | COL4A5 | c.4596T>G (p.Val1532=) c.4578T>G (p.Val1526=) n.1090T>G c.325-3482T>G c.4587T>G (p.Val1529=) c.4272T>G (p.Val1424=) c.2169T>G (p.Val723=) c.4611T>G (p.Val1537=) c.4602T>G (p.Val1534=) c.4593T>G (p.Val1531=) c.2931T>G (p.Val977=) | |
X | g.108692816T>A | CA413855496 | COL4A5 | c.4597T>A (p.Cys1533Ser) c.4579T>A (p.Cys1527Ser) n.1091T>A c.325-3481T>A c.4588T>A (p.Cys1530Ser) c.4273T>A (p.Cys1425Ser) c.2170T>A (p.Cys724Ser) c.4612T>A (p.Cys1538Ser) c.4603T>A (p.Cys1535Ser) c.4594T>A (p.Cys1532Ser) c.2932T>A (p.Cys978Ser) | |
X | g.108692816T>C | CA413855498 | COL4A5 | c.4597T>C (p.Cys1533Arg) c.4579T>C (p.Cys1527Arg) n.1091T>C c.325-3481T>C c.4588T>C (p.Cys1530Arg) c.4273T>C (p.Cys1425Arg) c.2170T>C (p.Cys724Arg) c.4612T>C (p.Cys1538Arg) c.4603T>C (p.Cys1535Arg) c.4594T>C (p.Cys1532Arg) c.2932T>C (p.Cys978Arg) | |
X | g.108692816T>G | CA413855500 | COL4A5 | c.4597T>G (p.Cys1533Gly) c.4579T>G (p.Cys1527Gly) n.1091T>G c.325-3481T>G c.4588T>G (p.Cys1530Gly) c.4273T>G (p.Cys1425Gly) c.2170T>G (p.Cys724Gly) c.4612T>G (p.Cys1538Gly) c.4603T>G (p.Cys1535Gly) c.4594T>G (p.Cys1532Gly) c.2932T>G (p.Cys978Gly) | |
X | g.108692817G>A | CA413855502 | COL4A5 | c.4598G>A (p.Cys1533Tyr) c.4580G>A (p.Cys1527Tyr) n.1092G>A c.325-3480G>A c.4589G>A (p.Cys1530Tyr) c.4274G>A (p.Cys1425Tyr) c.2171G>A (p.Cys724Tyr) c.4613G>A (p.Cys1538Tyr) c.4604G>A (p.Cys1535Tyr) c.4595G>A (p.Cys1532Tyr) c.2933G>A (p.Cys978Tyr) | |
X | g.108692817G>C | CA413855504 | COL4A5 | c.4598G>C (p.Cys1533Ser) c.4580G>C (p.Cys1527Ser) n.1092G>C c.325-3480G>C c.4589G>C (p.Cys1530Ser) c.4274G>C (p.Cys1425Ser) c.2171G>C (p.Cys724Ser) c.4613G>C (p.Cys1538Ser) c.4604G>C (p.Cys1535Ser) c.4595G>C (p.Cys1532Ser) c.2933G>C (p.Cys978Ser) | |
X | g.108692817G>T | CA413855506 | COL4A5 | c.4598G>T (p.Cys1533Phe) c.4580G>T (p.Cys1527Phe) n.1092G>T c.325-3480G>T c.4589G>T (p.Cys1530Phe) c.4274G>T (p.Cys1425Phe) c.2171G>T (p.Cys724Phe) c.4613G>T (p.Cys1538Phe) c.4604G>T (p.Cys1535Phe) c.4595G>T (p.Cys1532Phe) c.2933G>T (p.Cys978Phe) | ClinVar |
X | g.108692818C>A | CA413855509 | COL4A5 | c.4599C>A (p.Cys1533Ter) c.4581C>A (p.Cys1527Ter) n.1093C>A c.325-3479C>A c.4590C>A (p.Cys1530Ter) c.4275C>A (p.Cys1425Ter) c.2172C>A (p.Cys724Ter) c.4614C>A (p.Cys1538Ter) c.4605C>A (p.Cys1535Ter) c.4596C>A (p.Cys1532Ter) c.2934C>A (p.Cys978Ter) | |
X | g.108692818C= | CA2450720862 | COL4A5 | c.4599C= (p.Cys1533=) c.4581C= (p.Cys1527=) n.1093C= c.325-3479C= c.4590C= (p.Cys1530=) c.4275C= (p.Cys1425=) c.2172C= (p.Cys724=) c.4614C= (p.Cys1538=) c.4605C= (p.Cys1535=) c.4596C= (p.Cys1532=) c.2934C= (p.Cys978=) | |
X | g.108692818C>G | CA413855507 | COL4A5 | c.4599C>G (p.Cys1533Trp) c.4581C>G (p.Cys1527Trp) n.1093C>G c.325-3479C>G c.4590C>G (p.Cys1530Trp) c.4275C>G (p.Cys1425Trp) c.2172C>G (p.Cys724Trp) c.4614C>G (p.Cys1538Trp) c.4605C>G (p.Cys1535Trp) c.4596C>G (p.Cys1532Trp) c.2934C>G (p.Cys978Trp) | |
X | g.108692818C>T | CA517925194 | COL4A5 | c.4599C>T (p.Cys1533=) c.4581C>T (p.Cys1527=) n.1093C>T c.325-3479C>T c.4590C>T (p.Cys1530=) c.4275C>T (p.Cys1425=) c.2172C>T (p.Cys724=) c.4614C>T (p.Cys1538=) c.4605C>T (p.Cys1535=) c.4596C>T (p.Cys1532=) c.2934C>T (p.Cys978=) | ClinVar dbSNP gnomAD v4 |
X | g.108692819A= | CA2450720863 | COL4A5 | c.4600A= (p.Asn1534=) c.4582A= (p.Asn1528=) n.1094A= c.325-3478A= c.4591A= (p.Asn1531=) c.4276A= (p.Asn1426=) c.2173A= (p.Asn725=) c.4615A= (p.Asn1539=) c.4606A= (p.Asn1536=) c.4597A= (p.Asn1533=) c.2935A= (p.Asn979=) | |
X | g.108692819A>C | CA413855510 | COL4A5 | c.4600A>C (p.Asn1534His) c.4582A>C (p.Asn1528His) n.1094A>C c.325-3478A>C c.4591A>C (p.Asn1531His) c.4276A>C (p.Asn1426His) c.2173A>C (p.Asn725His) c.4615A>C (p.Asn1539His) c.4606A>C (p.Asn1536His) c.4597A>C (p.Asn1533His) c.2935A>C (p.Asn979His) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108692819A>G | CA413855512 | COL4A5 | c.4600A>G (p.Asn1534Asp) c.4582A>G (p.Asn1528Asp) n.1094A>G c.325-3478A>G c.4591A>G (p.Asn1531Asp) c.4276A>G (p.Asn1426Asp) c.2173A>G (p.Asn725Asp) c.4615A>G (p.Asn1539Asp) c.4606A>G (p.Asn1536Asp) c.4597A>G (p.Asn1533Asp) c.2935A>G (p.Asn979Asp) | |
X | g.108692819A>T | CA413855514 | COL4A5 | c.4600A>T (p.Asn1534Tyr) c.4582A>T (p.Asn1528Tyr) n.1094A>T c.325-3478A>T c.4591A>T (p.Asn1531Tyr) c.4276A>T (p.Asn1426Tyr) c.2173A>T (p.Asn725Tyr) c.4615A>T (p.Asn1539Tyr) c.4606A>T (p.Asn1536Tyr) c.4597A>T (p.Asn1533Tyr) c.2935A>T (p.Asn979Tyr) | |
X | g.108692820A>C | CA413855516 | COL4A5 | c.4601A>C (p.Asn1534Thr) c.4583A>C (p.Asn1528Thr) n.1095A>C c.325-3477A>C c.4592A>C (p.Asn1531Thr) c.4277A>C (p.Asn1426Thr) c.2174A>C (p.Asn725Thr) c.4616A>C (p.Asn1539Thr) c.4607A>C (p.Asn1536Thr) c.4598A>C (p.Asn1533Thr) c.2936A>C (p.Asn979Thr) | |
X | g.108692820A>G | CA413855518 | COL4A5 | c.4601A>G (p.Asn1534Ser) c.4583A>G (p.Asn1528Ser) n.1095A>G c.325-3477A>G c.4592A>G (p.Asn1531Ser) c.4277A>G (p.Asn1426Ser) c.2174A>G (p.Asn725Ser) c.4616A>G (p.Asn1539Ser) c.4607A>G (p.Asn1536Ser) c.4598A>G (p.Asn1533Ser) c.2936A>G (p.Asn979Ser) | |
X | g.108692820A>T | CA413855520 | COL4A5 | c.4601A>T (p.Asn1534Ile) c.4583A>T (p.Asn1528Ile) n.1095A>T c.325-3477A>T c.4592A>T (p.Asn1531Ile) c.4277A>T (p.Asn1426Ile) c.2174A>T (p.Asn725Ile) c.4616A>T (p.Asn1539Ile) c.4607A>T (p.Asn1536Ile) c.4598A>T (p.Asn1533Ile) c.2936A>T (p.Asn979Ile) | |
X | g.108692821C>A | CA413855522 | COL4A5 | c.4602C>A (p.Asn1534Lys) c.4584C>A (p.Asn1528Lys) n.1096C>A c.325-3476C>A c.4593C>A (p.Asn1531Lys) c.4278C>A (p.Asn1426Lys) c.2175C>A (p.Asn725Lys) c.4617C>A (p.Asn1539Lys) c.4608C>A (p.Asn1536Lys) c.4599C>A (p.Asn1533Lys) c.2937C>A (p.Asn979Lys) | |
X | g.108692821C= | CA2450720864 | COL4A5 | c.4602C= (p.Asn1534=) c.4584C= (p.Asn1528=) n.1096C= c.325-3476C= c.4593C= (p.Asn1531=) c.4278C= (p.Asn1426=) c.2175C= (p.Asn725=) c.4617C= (p.Asn1539=) c.4608C= (p.Asn1536=) c.4599C= (p.Asn1533=) c.2937C= (p.Asn979=) | |
X | g.108692821C>G | CA413855524 | COL4A5 | c.4602C>G (p.Asn1534Lys) c.4584C>G (p.Asn1528Lys) n.1096C>G c.325-3476C>G c.4593C>G (p.Asn1531Lys) c.4278C>G (p.Asn1426Lys) c.2175C>G (p.Asn725Lys) c.4617C>G (p.Asn1539Lys) c.4608C>G (p.Asn1536Lys) c.4599C>G (p.Asn1533Lys) c.2937C>G (p.Asn979Lys) | |
X | g.108692821C>T | CA10489387 | COL4A5 | c.4602C>T (p.Asn1534=) c.4584C>T (p.Asn1528=) n.1096C>T c.325-3476C>T c.4593C>T (p.Asn1531=) c.4278C>T (p.Asn1426=) c.2175C>T (p.Asn725=) c.4617C>T (p.Asn1539=) c.4608C>T (p.Asn1536=) c.4599C>T (p.Asn1533=) c.2937C>T (p.Asn979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108692822T>A | CA413855527 | COL4A5 | c.4603T>A (p.Phe1535Ile) c.4585T>A (p.Phe1529Ile) n.1097T>A c.1T>A (p.Phe1Ile) c.325-3475T>A c.4594T>A (p.Phe1532Ile) c.4279T>A (p.Phe1427Ile) c.2176T>A (p.Phe726Ile) c.4618T>A (p.Phe1540Ile) c.4609T>A (p.Phe1537Ile) c.4600T>A (p.Phe1534Ile) c.2938T>A (p.Phe980Ile) | |
X | g.108692822T>C | CA413855529 | COL4A5 | c.4603T>C (p.Phe1535Leu) c.4585T>C (p.Phe1529Leu) n.1097T>C c.1T>C (p.Phe1Leu) c.325-3475T>C c.4594T>C (p.Phe1532Leu) c.4279T>C (p.Phe1427Leu) c.2176T>C (p.Phe726Leu) c.4618T>C (p.Phe1540Leu) c.4609T>C (p.Phe1537Leu) c.4600T>C (p.Phe1534Leu) c.2938T>C (p.Phe980Leu) | |
X | g.108692822T>G | CA413855531 | COL4A5 | c.4603T>G (p.Phe1535Val) c.4585T>G (p.Phe1529Val) n.1097T>G c.1T>G (p.Phe1Val) c.325-3475T>G c.4594T>G (p.Phe1532Val) c.4279T>G (p.Phe1427Val) c.2176T>G (p.Phe726Val) c.4618T>G (p.Phe1540Val) c.4609T>G (p.Phe1537Val) c.4600T>G (p.Phe1534Val) c.2938T>G (p.Phe980Val) | |
X | g.108692823T>A | CA413855535 | COL4A5 | c.4604T>A (p.Phe1535Tyr) c.4586T>A (p.Phe1529Tyr) n.1098T>A c.2T>A (p.Phe1Tyr) c.325-3474T>A c.4595T>A (p.Phe1532Tyr) c.4280T>A (p.Phe1427Tyr) c.2177T>A (p.Phe726Tyr) c.4619T>A (p.Phe1540Tyr) c.4610T>A (p.Phe1537Tyr) c.4601T>A (p.Phe1534Tyr) c.2939T>A (p.Phe980Tyr) | |
X | g.108692823T>C | CA413855537 | COL4A5 | c.4604T>C (p.Phe1535Ser) c.4586T>C (p.Phe1529Ser) n.1098T>C c.2T>C (p.Phe1Ser) c.325-3474T>C c.4595T>C (p.Phe1532Ser) c.4280T>C (p.Phe1427Ser) c.2177T>C (p.Phe726Ser) c.4619T>C (p.Phe1540Ser) c.4610T>C (p.Phe1537Ser) c.4601T>C (p.Phe1534Ser) c.2939T>C (p.Phe980Ser) | |
X | g.108692823T>G | CA413855533 | COL4A5 | c.4604T>G (p.Phe1535Cys) c.4586T>G (p.Phe1529Cys) n.1098T>G c.2T>G (p.Phe1Cys) c.325-3474T>G c.4595T>G (p.Phe1532Cys) c.4280T>G (p.Phe1427Cys) c.2177T>G (p.Phe726Cys) c.4619T>G (p.Phe1540Cys) c.4610T>G (p.Phe1537Cys) c.4601T>G (p.Phe1534Cys) c.2939T>G (p.Phe980Cys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108692823T= | CA2450720865 | COL4A5 | c.4604T= (p.Phe1535=) c.4586T= (p.Phe1529=) n.1098T= c.2T= (p.Phe1=) c.325-3474T= c.4595T= (p.Phe1532=) c.4280T= (p.Phe1427=) c.2177T= (p.Phe726=) c.4619T= (p.Phe1540=) c.4610T= (p.Phe1537=) c.4601T= (p.Phe1534=) c.2939T= (p.Phe980=) | |
X | g.108692824T>A | CA413855539 | COL4A5 | c.4605T>A (p.Phe1535Leu) c.4587T>A (p.Phe1529Leu) n.1099T>A c.3T>A (p.Phe1Leu) c.325-3473T>A c.4596T>A (p.Phe1532Leu) c.4281T>A (p.Phe1427Leu) c.2178T>A (p.Phe726Leu) c.4620T>A (p.Phe1540Leu) c.4611T>A (p.Phe1537Leu) c.4602T>A (p.Phe1534Leu) c.2940T>A (p.Phe980Leu) | |
X | g.108692824T>C | CA10489388 | COL4A5 | c.4605T>C (p.Phe1535=) c.4587T>C (p.Phe1529=) n.1099T>C c.3T>C (p.Phe1=) c.325-3473T>C c.4596T>C (p.Phe1532=) c.4281T>C (p.Phe1427=) c.2178T>C (p.Phe726=) c.4620T>C (p.Phe1540=) c.4611T>C (p.Phe1537=) c.4602T>C (p.Phe1534=) c.2940T>C (p.Phe980=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108692824T>G | CA413855542 | COL4A5 | c.4605T>G (p.Phe1535Leu) c.4587T>G (p.Phe1529Leu) n.1099T>G c.3T>G (p.Phe1Leu) c.325-3473T>G c.4596T>G (p.Phe1532Leu) c.4281T>G (p.Phe1427Leu) c.2178T>G (p.Phe726Leu) c.4620T>G (p.Phe1540Leu) c.4611T>G (p.Phe1537Leu) c.4602T>G (p.Phe1534Leu) c.2940T>G (p.Phe980Leu) | |
X | g.108692824T= | CA2450720866 | COL4A5 | c.4605T= (p.Phe1535=) c.4587T= (p.Phe1529=) n.1099T= c.3T= (p.Phe1=) c.325-3473T= c.4596T= (p.Phe1532=) c.4281T= (p.Phe1427=) c.2178T= (p.Phe726=) c.4620T= (p.Phe1540=) c.4611T= (p.Phe1537=) c.4602T= (p.Phe1534=) c.2940T= (p.Phe980=) | |
X | g.108692825G>A | CA413855543 | COL4A5 | c.4606G>A (p.Ala1536Thr) c.4588G>A (p.Ala1530Thr) n.1100G>A c.4G>A (p.Ala2Thr) c.325-3472G>A c.4597G>A (p.Ala1533Thr) c.4282G>A (p.Ala1428Thr) c.2179G>A (p.Ala727Thr) c.4621G>A (p.Ala1541Thr) c.4612G>A (p.Ala1538Thr) c.4603G>A (p.Ala1535Thr) c.2941G>A (p.Ala981Thr) | |
X | g.108692825G>C | CA413855544 | COL4A5 | c.4606G>C (p.Ala1536Pro) c.4588G>C (p.Ala1530Pro) n.1100G>C c.4G>C (p.Ala2Pro) c.325-3472G>C c.4597G>C (p.Ala1533Pro) c.4282G>C (p.Ala1428Pro) c.2179G>C (p.Ala727Pro) c.4621G>C (p.Ala1541Pro) c.4612G>C (p.Ala1538Pro) c.4603G>C (p.Ala1535Pro) c.2941G>C (p.Ala981Pro) | |
X | g.108692825G>T | CA413855546 | COL4A5 | c.4606G>T (p.Ala1536Ser) c.4588G>T (p.Ala1530Ser) n.1100G>T c.4G>T (p.Ala2Ser) c.325-3472G>T c.4597G>T (p.Ala1533Ser) c.4282G>T (p.Ala1428Ser) c.2179G>T (p.Ala727Ser) c.4621G>T (p.Ala1541Ser) c.4612G>T (p.Ala1538Ser) c.4603G>T (p.Ala1535Ser) c.2941G>T (p.Ala981Ser) | dbSNP |
X | g.108692826C>A | CA413855548 | COL4A5 | c.4607C>A (p.Ala1536Asp) c.4589C>A (p.Ala1530Asp) n.1101C>A c.5C>A (p.Ala2Asp) c.325-3471C>A c.4598C>A (p.Ala1533Asp) c.4283C>A (p.Ala1428Asp) c.2180C>A (p.Ala727Asp) c.4622C>A (p.Ala1541Asp) c.4613C>A (p.Ala1538Asp) c.4604C>A (p.Ala1535Asp) c.2942C>A (p.Ala981Asp) | |
X | g.108692826C>G | CA413855550 | COL4A5 | c.4607C>G (p.Ala1536Gly) c.4589C>G (p.Ala1530Gly) n.1101C>G c.5C>G (p.Ala2Gly) c.325-3471C>G c.4598C>G (p.Ala1533Gly) c.4283C>G (p.Ala1428Gly) c.2180C>G (p.Ala727Gly) c.4622C>G (p.Ala1541Gly) c.4613C>G (p.Ala1538Gly) c.4604C>G (p.Ala1535Gly) c.2942C>G (p.Ala981Gly) | |
X | g.108692826C>T | CA413855551 | COL4A5 | c.4607C>T (p.Ala1536Val) c.4589C>T (p.Ala1530Val) n.1101C>T c.5C>T (p.Ala2Val) c.325-3471C>T c.4598C>T (p.Ala1533Val) c.4283C>T (p.Ala1428Val) c.2180C>T (p.Ala727Val) c.4622C>T (p.Ala1541Val) c.4613C>T (p.Ala1538Val) c.4604C>T (p.Ala1535Val) c.2942C>T (p.Ala981Val) | |
X | g.108692827T>A | CA517925204 | COL4A5 | c.4608T>A (p.Ala1536=) c.4590T>A (p.Ala1530=) n.1102T>A c.6T>A (p.Ala2=) c.325-3470T>A c.4599T>A (p.Ala1533=) c.4284T>A (p.Ala1428=) c.2181T>A (p.Ala727=) c.4623T>A (p.Ala1541=) c.4614T>A (p.Ala1538=) c.4605T>A (p.Ala1535=) c.2943T>A (p.Ala981=) | |
X | g.108692827T>C | CA517925206 | COL4A5 | c.4608T>C (p.Ala1536=) c.4590T>C (p.Ala1530=) n.1102T>C c.6T>C (p.Ala2=) c.325-3470T>C c.4599T>C (p.Ala1533=) c.4284T>C (p.Ala1428=) c.2181T>C (p.Ala727=) c.4623T>C (p.Ala1541=) c.4614T>C (p.Ala1538=) c.4605T>C (p.Ala1535=) c.2943T>C (p.Ala981=) | |
X | g.108692827T>G | CA517925207 | COL4A5 | c.4608T>G (p.Ala1536=) c.4590T>G (p.Ala1530=) n.1102T>G c.6T>G (p.Ala2=) c.325-3470T>G c.4599T>G (p.Ala1533=) c.4284T>G (p.Ala1428=) c.2181T>G (p.Ala727=) c.4623T>G (p.Ala1541=) c.4614T>G (p.Ala1538=) c.4605T>G (p.Ala1535=) c.2943T>G (p.Ala981=) | |
X | g.108692828T>A | CA413855553 | COL4A5 | c.4609T>A (p.Ser1537Thr) c.4591T>A (p.Ser1531Thr) n.1103T>A c.7T>A (p.Ser3Thr) c.325-3469T>A c.4600T>A (p.Ser1534Thr) c.4285T>A (p.Ser1429Thr) c.2182T>A (p.Ser728Thr) c.4624T>A (p.Ser1542Thr) c.4615T>A (p.Ser1539Thr) c.4606T>A (p.Ser1536Thr) c.2944T>A (p.Ser982Thr) | |
X | g.108692828T>C | CA413855555 | COL4A5 | c.4609T>C (p.Ser1537Pro) c.4591T>C (p.Ser1531Pro) n.1103T>C c.7T>C (p.Ser3Pro) c.325-3469T>C c.4600T>C (p.Ser1534Pro) c.4285T>C (p.Ser1429Pro) c.2182T>C (p.Ser728Pro) c.4624T>C (p.Ser1542Pro) c.4615T>C (p.Ser1539Pro) c.4606T>C (p.Ser1536Pro) c.2944T>C (p.Ser982Pro) | |
X | g.108692828T>G | CA413855557 | COL4A5 | c.4609T>G (p.Ser1537Ala) c.4591T>G (p.Ser1531Ala) n.1103T>G c.7T>G (p.Ser3Ala) c.325-3469T>G c.4600T>G (p.Ser1534Ala) c.4285T>G (p.Ser1429Ala) c.2182T>G (p.Ser728Ala) c.4624T>G (p.Ser1542Ala) c.4615T>G (p.Ser1539Ala) c.4606T>G (p.Ser1536Ala) c.2944T>G (p.Ser982Ala) | |
X | g.108692828_108692829del | CA2580100182 | COL4A5 | c.4609_4610del (p.Ser1537LysfsTer3) c.4591_4592del (p.Ser1531LysfsTer3) n.1103_1104del c.7_8del (p.Ser3LysfsTer3) c.325-3469_325-3468del c.4600_4601del (p.Ser1534LysfsTer3) c.4285_4286del (p.Ser1429LysfsTer3) c.2182_2183del (p.Ser728LysfsTer3) c.4624_4625del (p.Ser1542LysfsTer3) c.4615_4616del (p.Ser1539LysfsTer3) c.4606_4607del (p.Ser1536LysfsTer3) c.2944_2945del (p.Ser982LysfsTer3) | ClinVar |
X | g.108692829C>A | CA413855560 | COL4A5 | c.4610C>A (p.Ser1537Ter) c.4592C>A (p.Ser1531Ter) n.1104C>A c.8C>A (p.Ser3Ter) c.325-3468C>A c.4601C>A (p.Ser1534Ter) c.4286C>A (p.Ser1429Ter) c.2183C>A (p.Ser728Ter) c.4625C>A (p.Ser1542Ter) c.4616C>A (p.Ser1539Ter) c.4607C>A (p.Ser1536Ter) c.2945C>A (p.Ser982Ter) | |
X | g.108692829C>G | CA413855562 | COL4A5 | c.4610C>G (p.Ser1537Ter) c.4592C>G (p.Ser1531Ter) n.1104C>G c.8C>G (p.Ser3Ter) c.325-3468C>G c.4601C>G (p.Ser1534Ter) c.4286C>G (p.Ser1429Ter) c.2183C>G (p.Ser728Ter) c.4625C>G (p.Ser1542Ter) c.4616C>G (p.Ser1539Ter) c.4607C>G (p.Ser1536Ter) c.2945C>G (p.Ser982Ter) | |
X | g.108692829C>T | CA413855558 | COL4A5 | c.4610C>T (p.Ser1537Leu) c.4592C>T (p.Ser1531Leu) n.1104C>T c.8C>T (p.Ser3Leu) c.325-3468C>T c.4601C>T (p.Ser1534Leu) c.4286C>T (p.Ser1429Leu) c.2183C>T (p.Ser728Leu) c.4625C>T (p.Ser1542Leu) c.4616C>T (p.Ser1539Leu) c.4607C>T (p.Ser1536Leu) c.2945C>T (p.Ser982Leu) | |
X | g.108692830A>C | CA517925214 | COL4A5 | c.4611A>C (p.Ser1537=) c.4593A>C (p.Ser1531=) n.1105A>C c.9A>C (p.Ser3=) c.325-3467A>C c.4602A>C (p.Ser1534=) c.4287A>C (p.Ser1429=) c.2184A>C (p.Ser728=) c.4626A>C (p.Ser1542=) c.4617A>C (p.Ser1539=) c.4608A>C (p.Ser1536=) c.2946A>C (p.Ser982=) | |
X | g.108692830A>G | CA517925215 | COL4A5 | c.4611A>G (p.Ser1537=) c.4593A>G (p.Ser1531=) n.1105A>G c.9A>G (p.Ser3=) c.325-3467A>G c.4602A>G (p.Ser1534=) c.4287A>G (p.Ser1429=) c.2184A>G (p.Ser728=) c.4626A>G (p.Ser1542=) c.4617A>G (p.Ser1539=) c.4608A>G (p.Ser1536=) c.2946A>G (p.Ser982=) | |
X | g.108692830A>T | CA517925216 | COL4A5 | c.4611A>T (p.Ser1537=) c.4593A>T (p.Ser1531=) n.1105A>T c.9A>T (p.Ser3=) c.325-3467A>T c.4602A>T (p.Ser1534=) c.4287A>T (p.Ser1429=) c.2184A>T (p.Ser728=) c.4626A>T (p.Ser1542=) c.4617A>T (p.Ser1539=) c.4608A>T (p.Ser1536=) c.2946A>T (p.Ser982=) | |
X | g.108692831A= | CA2450720867 | COL4A5 | c.4612A= (p.Arg1538=) c.4594A= (p.Arg1532=) n.1106A= c.10A= (p.Arg4=) c.325-3466A= c.4603A= (p.Arg1535=) c.4288A= (p.Arg1430=) c.2185A= (p.Arg729=) c.4627A= (p.Arg1543=) c.4618A= (p.Arg1540=) c.4609A= (p.Arg1537=) c.2947A= (p.Arg983=) | |
X | g.108692831A>C | CA10489389 | COL4A5 | c.4612A>C (p.Arg1538=) c.4594A>C (p.Arg1532=) n.1106A>C c.10A>C (p.Arg4=) c.325-3466A>C c.4603A>C (p.Arg1535=) c.4288A>C (p.Arg1430=) c.2185A>C (p.Arg729=) c.4627A>C (p.Arg1543=) c.4618A>C (p.Arg1540=) c.4609A>C (p.Arg1537=) c.2947A>C (p.Arg983=) | dbSNP ExAC |
X | g.108692831A>G | CA413855565 | COL4A5 | c.4612A>G (p.Arg1538Gly) c.4594A>G (p.Arg1532Gly) n.1106A>G c.10A>G (p.Arg4Gly) c.325-3466A>G c.4603A>G (p.Arg1535Gly) c.4288A>G (p.Arg1430Gly) c.2185A>G (p.Arg729Gly) c.4627A>G (p.Arg1543Gly) c.4618A>G (p.Arg1540Gly) c.4609A>G (p.Arg1537Gly) c.2947A>G (p.Arg983Gly) | dbSNP COSMIC COSMIC |
X | g.108692831A>T | CA413855567 | COL4A5 | c.4612A>T (p.Arg1538Ter) c.4594A>T (p.Arg1532Ter) n.1106A>T c.10A>T (p.Arg4Ter) c.325-3466A>T c.4603A>T (p.Arg1535Ter) c.4288A>T (p.Arg1430Ter) c.2185A>T (p.Arg729Ter) c.4627A>T (p.Arg1543Ter) c.4618A>T (p.Arg1540Ter) c.4609A>T (p.Arg1537Ter) c.2947A>T (p.Arg983Ter) | |
X | g.108692832G>A | CA413855569 | COL4A5 | c.4613G>A (p.Arg1538Lys) c.4595G>A (p.Arg1532Lys) n.1107G>A c.11G>A (p.Arg4Lys) c.325-3465G>A c.4604G>A (p.Arg1535Lys) c.4289G>A (p.Arg1430Lys) c.2186G>A (p.Arg729Lys) c.4628G>A (p.Arg1543Lys) c.4619G>A (p.Arg1540Lys) c.4610G>A (p.Arg1537Lys) c.2948G>A (p.Arg983Lys) | gnomAD v4 |
X | g.108692832G>C | CA413855571 | COL4A5 | c.4613G>C (p.Arg1538Thr) c.4595G>C (p.Arg1532Thr) n.1107G>C c.11G>C (p.Arg4Thr) c.325-3465G>C c.4604G>C (p.Arg1535Thr) c.4289G>C (p.Arg1430Thr) c.2186G>C (p.Arg729Thr) c.4628G>C (p.Arg1543Thr) c.4619G>C (p.Arg1540Thr) c.4610G>C (p.Arg1537Thr) c.2948G>C (p.Arg983Thr) | |
X | g.108692832G>T | CA413855573 | COL4A5 | c.4613G>T (p.Arg1538Ile) c.4595G>T (p.Arg1532Ile) n.1107G>T c.11G>T (p.Arg4Ile) c.325-3465G>T c.4604G>T (p.Arg1535Ile) c.4289G>T (p.Arg1430Ile) c.2186G>T (p.Arg729Ile) c.4628G>T (p.Arg1543Ile) c.4619G>T (p.Arg1540Ile) c.4610G>T (p.Arg1537Ile) c.2948G>T (p.Arg983Ile) | COSMIC |
X | g.108692833A>C | CA413855575 | COL4A5 | c.4614A>C (p.Arg1538Ser) c.4596A>C (p.Arg1532Ser) n.1108A>C c.12A>C (p.Arg4Ser) c.325-3464A>C c.4605A>C (p.Arg1535Ser) c.4290A>C (p.Arg1430Ser) c.2187A>C (p.Arg729Ser) c.4629A>C (p.Arg1543Ser) c.4620A>C (p.Arg1540Ser) c.4611A>C (p.Arg1537Ser) c.2949A>C (p.Arg983Ser) | |
X | g.108692833A>G | CA517925221 | COL4A5 | c.4614A>G (p.Arg1538=) c.4596A>G (p.Arg1532=) n.1108A>G c.12A>G (p.Arg4=) c.325-3464A>G c.4605A>G (p.Arg1535=) c.4290A>G (p.Arg1430=) c.2187A>G (p.Arg729=) c.4629A>G (p.Arg1543=) c.4620A>G (p.Arg1540=) c.4611A>G (p.Arg1537=) c.2949A>G (p.Arg983=) | |
X | g.108692833A>T | CA413855577 | COL4A5 | c.4614A>T (p.Arg1538Ser) c.4596A>T (p.Arg1532Ser) n.1108A>T c.12A>T (p.Arg4Ser) c.325-3464A>T c.4605A>T (p.Arg1535Ser) c.4290A>T (p.Arg1430Ser) c.2187A>T (p.Arg729Ser) c.4629A>T (p.Arg1543Ser) c.4620A>T (p.Arg1540Ser) c.4611A>T (p.Arg1537Ser) c.2949A>T (p.Arg983Ser) | |
X | g.108692834A>C | CA413855578 | COL4A5 | c.4615A>C (p.Asn1539His) c.4597A>C (p.Asn1533His) n.1109A>C c.13A>C (p.Asn5His) c.325-3463A>C c.4606A>C (p.Asn1536His) c.4291A>C (p.Asn1431His) c.2188A>C (p.Asn730His) c.4630A>C (p.Asn1544His) c.4621A>C (p.Asn1541His) c.4612A>C (p.Asn1538His) c.2950A>C (p.Asn984His) | |
X | g.108692834A>G | CA413855580 | COL4A5 | c.4615A>G (p.Asn1539Asp) c.4597A>G (p.Asn1533Asp) n.1109A>G c.13A>G (p.Asn5Asp) c.325-3463A>G c.4606A>G (p.Asn1536Asp) c.4291A>G (p.Asn1431Asp) c.2188A>G (p.Asn730Asp) c.4630A>G (p.Asn1544Asp) c.4621A>G (p.Asn1541Asp) c.4612A>G (p.Asn1538Asp) c.2950A>G (p.Asn984Asp) | |
X | g.108692834A>T | CA413855582 | COL4A5 | c.4615A>T (p.Asn1539Tyr) c.4597A>T (p.Asn1533Tyr) n.1109A>T c.13A>T (p.Asn5Tyr) c.325-3463A>T c.4606A>T (p.Asn1536Tyr) c.4291A>T (p.Asn1431Tyr) c.2188A>T (p.Asn730Tyr) c.4630A>T (p.Asn1544Tyr) c.4621A>T (p.Asn1541Tyr) c.4612A>T (p.Asn1538Tyr) c.2950A>T (p.Asn984Tyr) | |
X | g.108692835A>C | CA413855584 | COL4A5 | c.4616A>C (p.Asn1539Thr) c.4598A>C (p.Asn1533Thr) n.1110A>C c.14A>C (p.Asn5Thr) c.325-3462A>C c.4607A>C (p.Asn1536Thr) c.4292A>C (p.Asn1431Thr) c.2189A>C (p.Asn730Thr) c.4631A>C (p.Asn1544Thr) c.4622A>C (p.Asn1541Thr) c.4613A>C (p.Asn1538Thr) c.2951A>C (p.Asn984Thr) | |
X | g.108692835A>G | CA413855585 | COL4A5 | c.4616A>G (p.Asn1539Ser) c.4598A>G (p.Asn1533Ser) n.1110A>G c.14A>G (p.Asn5Ser) c.325-3462A>G c.4607A>G (p.Asn1536Ser) c.4292A>G (p.Asn1431Ser) c.2189A>G (p.Asn730Ser) c.4631A>G (p.Asn1544Ser) c.4622A>G (p.Asn1541Ser) c.4613A>G (p.Asn1538Ser) c.2951A>G (p.Asn984Ser) | gnomAD v4 |
X | g.108692835A>T | CA413855587 | COL4A5 | c.4616A>T (p.Asn1539Ile) c.4598A>T (p.Asn1533Ile) n.1110A>T c.14A>T (p.Asn5Ile) c.325-3462A>T c.4607A>T (p.Asn1536Ile) c.4292A>T (p.Asn1431Ile) c.2189A>T (p.Asn730Ile) c.4631A>T (p.Asn1544Ile) c.4622A>T (p.Asn1541Ile) c.4613A>T (p.Asn1538Ile) c.2951A>T (p.Asn984Ile) | |
X | g.108692836T>A | CA413855589 | COL4A5 | c.4617T>A (p.Asn1539Lys) c.4599T>A (p.Asn1533Lys) n.1111T>A c.15T>A (p.Asn5Lys) c.325-3461T>A c.4608T>A (p.Asn1536Lys) c.4293T>A (p.Asn1431Lys) c.2190T>A (p.Asn730Lys) c.4632T>A (p.Asn1544Lys) c.4623T>A (p.Asn1541Lys) c.4614T>A (p.Asn1538Lys) c.2952T>A (p.Asn984Lys) | |
X | g.108692836T>C | CA517925223 | COL4A5 | c.4617T>C (p.Asn1539=) c.4599T>C (p.Asn1533=) n.1111T>C c.15T>C (p.Asn5=) c.325-3461T>C c.4608T>C (p.Asn1536=) c.4293T>C (p.Asn1431=) c.2190T>C (p.Asn730=) c.4632T>C (p.Asn1544=) c.4623T>C (p.Asn1541=) c.4614T>C (p.Asn1538=) c.2952T>C (p.Asn984=) | ClinVar dbSNP |
X | g.108692836T>G | CA413855590 | COL4A5 | c.4617T>G (p.Asn1539Lys) c.4599T>G (p.Asn1533Lys) n.1111T>G c.15T>G (p.Asn5Lys) c.325-3461T>G c.4608T>G (p.Asn1536Lys) c.4293T>G (p.Asn1431Lys) c.2190T>G (p.Asn730Lys) c.4632T>G (p.Asn1544Lys) c.4623T>G (p.Asn1541Lys) c.4614T>G (p.Asn1538Lys) c.2952T>G (p.Asn984Lys) | |
X | g.108692836_108692837delinsTG | CA2450720868 | COL4A5 | c.4617_4618delinsTG (p.Asn1539=) c.4599_4600delinsTG (p.Asn1533=) n.1111_1112delinsTG c.15_16delinsTG (p.Asn5=) c.325-3461_325-3460delinsTG c.4608_4609delinsTG (p.Asn1536=) c.4293_4294delinsTG (p.Asn1431=) c.2190_2191delinsTG (p.Asn730=) c.4632_4633delinsTG (p.Asn1544=) c.4623_4624delinsTG (p.Asn1541=) c.4614_4615delinsTG (p.Asn1538=) c.2952_2953delinsTG (p.Asn984=) | |
X | g.108692837del | CA915951314 | COL4A5 | c.4618del (p.Asp1540ThrfsTer14) c.4600del (p.Asp1534ThrfsTer14) n.1112del c.16del (p.Asp6ThrfsTer14) c.325-3460del c.4609del (p.Asp1537ThrfsTer14) c.4294del (p.Asp1432ThrfsTer14) c.2191del (p.Asp731ThrfsTer14) c.4633del (p.Asp1545ThrfsTer14) c.4624del (p.Asp1542ThrfsTer14) c.4615del (p.Asp1539ThrfsTer14) c.2953del (p.Asp985ThrfsTer14) | ClinVar dbSNP |
X | g.108692837G>A | CA413855592 | COL4A5 | c.4618G>A (p.Asp1540Asn) c.4600G>A (p.Asp1534Asn) n.1112G>A c.16G>A (p.Asp6Asn) c.325-3460G>A c.4609G>A (p.Asp1537Asn) c.4294G>A (p.Asp1432Asn) c.2191G>A (p.Asp731Asn) c.4633G>A (p.Asp1545Asn) c.4624G>A (p.Asp1542Asn) c.4615G>A (p.Asp1539Asn) c.2953G>A (p.Asp985Asn) | |
X | g.108692837G>C | CA413855596 | COL4A5 | c.4618G>C (p.Asp1540His) c.4600G>C (p.Asp1534His) n.1112G>C c.16G>C (p.Asp6His) c.325-3460G>C c.4609G>C (p.Asp1537His) c.4294G>C (p.Asp1432His) c.2191G>C (p.Asp731His) c.4633G>C (p.Asp1545His) c.4624G>C (p.Asp1542His) c.4615G>C (p.Asp1539His) c.2953G>C (p.Asp985His) | |
X | g.108692837G= | CA2450720869 | COL4A5 | c.4618G= (p.Asp1540=) c.4600G= (p.Asp1534=) n.1112G= c.16G= (p.Asp6=) c.325-3460G= c.4609G= (p.Asp1537=) c.4294G= (p.Asp1432=) c.2191G= (p.Asp731=) c.4633G= (p.Asp1545=) c.4624G= (p.Asp1542=) c.4615G= (p.Asp1539=) c.2953G= (p.Asp985=) | |
X | g.108692837G>T | CA334061616 | COL4A5 | c.4618G>T (p.Asp1540Tyr) c.4600G>T (p.Asp1534Tyr) n.1112G>T c.16G>T (p.Asp6Tyr) c.325-3460G>T c.4609G>T (p.Asp1537Tyr) c.4294G>T (p.Asp1432Tyr) c.2191G>T (p.Asp731Tyr) c.4633G>T (p.Asp1545Tyr) c.4624G>T (p.Asp1542Tyr) c.4615G>T (p.Asp1539Tyr) c.2953G>T (p.Asp985Tyr) | dbSNP |
X | g.108692838A>C | CA413855598 | COL4A5 | c.4619A>C (p.Asp1540Ala) c.4601A>C (p.Asp1534Ala) n.1113A>C c.17A>C (p.Asp6Ala) c.325-3459A>C c.4610A>C (p.Asp1537Ala) c.4295A>C (p.Asp1432Ala) c.2192A>C (p.Asp731Ala) c.4634A>C (p.Asp1545Ala) c.4625A>C (p.Asp1542Ala) c.4616A>C (p.Asp1539Ala) c.2954A>C (p.Asp985Ala) | |
X | g.108692838A>G | CA413855600 | COL4A5 | c.4619A>G (p.Asp1540Gly) c.4601A>G (p.Asp1534Gly) n.1113A>G c.17A>G (p.Asp6Gly) c.325-3459A>G c.4610A>G (p.Asp1537Gly) c.4295A>G (p.Asp1432Gly) c.2192A>G (p.Asp731Gly) c.4634A>G (p.Asp1545Gly) c.4625A>G (p.Asp1542Gly) c.4616A>G (p.Asp1539Gly) c.2954A>G (p.Asp985Gly) | |
X | g.108692838A>T | CA413855602 | COL4A5 | c.4619A>T (p.Asp1540Val) c.4601A>T (p.Asp1534Val) n.1113A>T c.17A>T (p.Asp6Val) c.325-3459A>T c.4610A>T (p.Asp1537Val) c.4295A>T (p.Asp1432Val) c.2192A>T (p.Asp731Val) c.4634A>T (p.Asp1545Val) c.4625A>T (p.Asp1542Val) c.4616A>T (p.Asp1539Val) c.2954A>T (p.Asp985Val) | |
X | g.108692839del | CA2695235244 | COL4A5 | c.4620del (p.Tyr1541IlefsTer13) c.4602del (p.Tyr1535IlefsTer13) n.1114del c.18del (p.Tyr7IlefsTer13) c.325-3458del c.4611del (p.Tyr1538IlefsTer13) c.4296del (p.Tyr1433IlefsTer13) c.2193del (p.Tyr732IlefsTer13) c.4635del (p.Tyr1546IlefsTer13) c.4626del (p.Tyr1543IlefsTer13) c.4617del (p.Tyr1540IlefsTer13) c.2955del (p.Tyr986IlefsTer13) | |
X | g.108692839C>A | CA334061620 | COL4A5 | c.4620C>A (p.Asp1540Glu) c.4602C>A (p.Asp1534Glu) n.1114C>A c.18C>A (p.Asp6Glu) c.325-3458C>A c.4611C>A (p.Asp1537Glu) c.4296C>A (p.Asp1432Glu) c.2193C>A (p.Asp731Glu) c.4635C>A (p.Asp1545Glu) c.4626C>A (p.Asp1542Glu) c.4617C>A (p.Asp1539Glu) c.2955C>A (p.Asp985Glu) | dbSNP |
X | g.108692839C= | CA2450720870 | COL4A5 | c.4620C= (p.Asp1540=) c.4602C= (p.Asp1534=) n.1114C= c.18C= (p.Asp6=) c.325-3458C= c.4611C= (p.Asp1537=) c.4296C= (p.Asp1432=) c.2193C= (p.Asp731=) c.4635C= (p.Asp1545=) c.4626C= (p.Asp1542=) c.4617C= (p.Asp1539=) c.2955C= (p.Asp985=) | |
X | g.108692839C>G | CA413855606 | COL4A5 | c.4620C>G (p.Asp1540Glu) c.4602C>G (p.Asp1534Glu) n.1114C>G c.18C>G (p.Asp6Glu) c.325-3458C>G c.4611C>G (p.Asp1537Glu) c.4296C>G (p.Asp1432Glu) c.2193C>G (p.Asp731Glu) c.4635C>G (p.Asp1545Glu) c.4626C>G (p.Asp1542Glu) c.4617C>G (p.Asp1539Glu) c.2955C>G (p.Asp985Glu) | |
X | g.108692839C>T | CA517925228 | COL4A5 | c.4620C>T (p.Asp1540=) c.4602C>T (p.Asp1534=) n.1114C>T c.18C>T (p.Asp6=) c.325-3458C>T c.4611C>T (p.Asp1537=) c.4296C>T (p.Asp1432=) c.2193C>T (p.Asp731=) c.4635C>T (p.Asp1545=) c.4626C>T (p.Asp1542=) c.4617C>T (p.Asp1539=) c.2955C>T (p.Asp985=) | gnomAD v4 |
X | g.108692840T>A | CA413855608 | COL4A5 | c.4621T>A (p.Tyr1541Asn) c.4603T>A (p.Tyr1535Asn) n.1115T>A c.19T>A (p.Tyr7Asn) c.325-3457T>A c.4612T>A (p.Tyr1538Asn) c.4297T>A (p.Tyr1433Asn) c.2194T>A (p.Tyr732Asn) c.4636T>A (p.Tyr1546Asn) c.4627T>A (p.Tyr1543Asn) c.4618T>A (p.Tyr1540Asn) c.2956T>A (p.Tyr986Asn) | gnomAD v4 |
X | g.108692840T>C | CA413855610 | COL4A5 | c.4621T>C (p.Tyr1541His) c.4603T>C (p.Tyr1535His) n.1115T>C c.19T>C (p.Tyr7His) c.325-3457T>C c.4612T>C (p.Tyr1538His) c.4297T>C (p.Tyr1433His) c.2194T>C (p.Tyr732His) c.4636T>C (p.Tyr1546His) c.4627T>C (p.Tyr1543His) c.4618T>C (p.Tyr1540His) c.2956T>C (p.Tyr986His) | dbSNP gnomAD v4 |
X | g.108692840T>G | CA413855612 | COL4A5 | c.4621T>G (p.Tyr1541Asp) c.4603T>G (p.Tyr1535Asp) n.1115T>G c.19T>G (p.Tyr7Asp) c.325-3457T>G c.4612T>G (p.Tyr1538Asp) c.4297T>G (p.Tyr1433Asp) c.2194T>G (p.Tyr732Asp) c.4636T>G (p.Tyr1546Asp) c.4627T>G (p.Tyr1543Asp) c.4618T>G (p.Tyr1540Asp) c.2956T>G (p.Tyr986Asp) | |
X | g.108692840T= | CA2450720871 | COL4A5 | c.4621T= (p.Tyr1541=) c.4603T= (p.Tyr1535=) n.1115T= c.19T= (p.Tyr7=) c.325-3457T= c.4612T= (p.Tyr1538=) c.4297T= (p.Tyr1433=) c.2194T= (p.Tyr732=) c.4636T= (p.Tyr1546=) c.4627T= (p.Tyr1543=) c.4618T= (p.Tyr1540=) c.2956T= (p.Tyr986=) | |
X | g.108692841A>C | CA413855613 | COL4A5 | c.4622A>C (p.Tyr1541Ser) c.4604A>C (p.Tyr1535Ser) n.1116A>C c.20A>C (p.Tyr7Ser) c.325-3456A>C c.4613A>C (p.Tyr1538Ser) c.4298A>C (p.Tyr1433Ser) c.2195A>C (p.Tyr732Ser) c.4637A>C (p.Tyr1546Ser) c.4628A>C (p.Tyr1543Ser) c.4619A>C (p.Tyr1540Ser) c.2957A>C (p.Tyr986Ser) | |
X | g.108692841A>G | CA413855614 | COL4A5 | c.4622A>G (p.Tyr1541Cys) c.4604A>G (p.Tyr1535Cys) n.1116A>G c.20A>G (p.Tyr7Cys) c.325-3456A>G c.4613A>G (p.Tyr1538Cys) c.4298A>G (p.Tyr1433Cys) c.2195A>G (p.Tyr732Cys) c.4637A>G (p.Tyr1546Cys) c.4628A>G (p.Tyr1543Cys) c.4619A>G (p.Tyr1540Cys) c.2957A>G (p.Tyr986Cys) | dbSNP gnomAD v4 |
X | g.108692841A>T | CA413855615 | COL4A5 | c.4622A>T (p.Tyr1541Phe) c.4604A>T (p.Tyr1535Phe) n.1116A>T c.20A>T (p.Tyr7Phe) c.325-3456A>T c.4613A>T (p.Tyr1538Phe) c.4298A>T (p.Tyr1433Phe) c.2195A>T (p.Tyr732Phe) c.4637A>T (p.Tyr1546Phe) c.4628A>T (p.Tyr1543Phe) c.4619A>T (p.Tyr1540Phe) c.2957A>T (p.Tyr986Phe) | |
X | g.108692842T>A | CA413855617 | COL4A5 | c.4623T>A (p.Tyr1541Ter) c.4605T>A (p.Tyr1535Ter) n.1117T>A c.21T>A (p.Tyr7Ter) c.325-3455T>A c.4614T>A (p.Tyr1538Ter) c.4299T>A (p.Tyr1433Ter) c.2196T>A (p.Tyr732Ter) c.4638T>A (p.Tyr1546Ter) c.4629T>A (p.Tyr1543Ter) c.4620T>A (p.Tyr1540Ter) c.2958T>A (p.Tyr986Ter) | |
X | g.108692842T>C | CA517925231 | COL4A5 | c.4623T>C (p.Tyr1541=) c.4605T>C (p.Tyr1535=) n.1117T>C c.21T>C (p.Tyr7=) c.325-3455T>C c.4614T>C (p.Tyr1538=) c.4299T>C (p.Tyr1433=) c.2196T>C (p.Tyr732=) c.4638T>C (p.Tyr1546=) c.4629T>C (p.Tyr1543=) c.4620T>C (p.Tyr1540=) c.2958T>C (p.Tyr986=) | |
X | g.108692842T>G | CA413855616 | COL4A5 | c.4623T>G (p.Tyr1541Ter) c.4605T>G (p.Tyr1535Ter) n.1117T>G c.21T>G (p.Tyr7Ter) c.325-3455T>G c.4614T>G (p.Tyr1538Ter) c.4299T>G (p.Tyr1433Ter) c.2196T>G (p.Tyr732Ter) c.4638T>G (p.Tyr1546Ter) c.4629T>G (p.Tyr1543Ter) c.4620T>G (p.Tyr1540Ter) c.2958T>G (p.Tyr986Ter) | ClinVar |
X | g.108692842_108692843insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT | CA2822895054 | COL4A5 | c.4623_4624insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1542ArgfsTer53) c.4605_4606insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1536ArgfsTer53) n.1117_1118insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT c.21_22insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser8ArgfsTer53) c.325-3455_325-3454insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT c.4614_4615insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1539ArgfsTer53) c.4299_4300insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1434ArgfsTer53) c.2196_2197insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser733ArgfsTer53) c.4638_4639insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1547ArgfsTer53) c.4629_4630insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1544ArgfsTer53) c.4620_4621insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1541ArgfsTer53) c.2958_2959insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser987ArgfsTer53) | |
X | g.108692843T>A | CA413855618 | COL4A5 | c.4624T>A (p.Ser1542Thr) c.4606T>A (p.Ser1536Thr) n.1118T>A c.22T>A (p.Ser8Thr) c.325-3454T>A c.4615T>A (p.Ser1539Thr) c.4300T>A (p.Ser1434Thr) c.2197T>A (p.Ser733Thr) c.4639T>A (p.Ser1547Thr) c.4630T>A (p.Ser1544Thr) c.4621T>A (p.Ser1541Thr) c.2959T>A (p.Ser987Thr) | |
X | g.108692843T>C | CA413855619 | COL4A5 | c.4624T>C (p.Ser1542Pro) c.4606T>C (p.Ser1536Pro) n.1118T>C c.22T>C (p.Ser8Pro) c.325-3454T>C c.4615T>C (p.Ser1539Pro) c.4300T>C (p.Ser1434Pro) c.2197T>C (p.Ser733Pro) c.4639T>C (p.Ser1547Pro) c.4630T>C (p.Ser1544Pro) c.4621T>C (p.Ser1541Pro) c.2959T>C (p.Ser987Pro) | |
X | g.108692843T>G | CA413855620 | COL4A5 | c.4624T>G (p.Ser1542Ala) c.4606T>G (p.Ser1536Ala) n.1118T>G c.22T>G (p.Ser8Ala) c.325-3454T>G c.4615T>G (p.Ser1539Ala) c.4300T>G (p.Ser1434Ala) c.2197T>G (p.Ser733Ala) c.4639T>G (p.Ser1547Ala) c.4630T>G (p.Ser1544Ala) c.4621T>G (p.Ser1541Ala) c.2959T>G (p.Ser987Ala) | |
X | g.108692844C>A | CA413855621 | COL4A5 | c.4625C>A (p.Ser1542Tyr) c.4607C>A (p.Ser1536Tyr) n.1119C>A c.23C>A (p.Ser8Tyr) c.325-3453C>A c.4616C>A (p.Ser1539Tyr) c.4301C>A (p.Ser1434Tyr) c.2198C>A (p.Ser733Tyr) c.4640C>A (p.Ser1547Tyr) c.4631C>A (p.Ser1544Tyr) c.4622C>A (p.Ser1541Tyr) c.2960C>A (p.Ser987Tyr) | |
X | g.108692844C>G | CA413855622 | COL4A5 | c.4625C>G (p.Ser1542Cys) c.4607C>G (p.Ser1536Cys) n.1119C>G c.23C>G (p.Ser8Cys) c.325-3453C>G c.4616C>G (p.Ser1539Cys) c.4301C>G (p.Ser1434Cys) c.2198C>G (p.Ser733Cys) c.4640C>G (p.Ser1547Cys) c.4631C>G (p.Ser1544Cys) c.4622C>G (p.Ser1541Cys) c.2960C>G (p.Ser987Cys) | |
X | g.108692844C>T | CA413855623 | COL4A5 | c.4625C>T (p.Ser1542Phe) c.4607C>T (p.Ser1536Phe) n.1119C>T c.23C>T (p.Ser8Phe) c.325-3453C>T c.4616C>T (p.Ser1539Phe) c.4301C>T (p.Ser1434Phe) c.2198C>T (p.Ser733Phe) c.4640C>T (p.Ser1547Phe) c.4631C>T (p.Ser1544Phe) c.4622C>T (p.Ser1541Phe) c.2960C>T (p.Ser987Phe) | |
X | g.108692845T>A | CA517925237 | COL4A5 | c.4626T>A (p.Ser1542=) c.4608T>A (p.Ser1536=) n.1120T>A c.24T>A (p.Ser8=) c.325-3452T>A c.4617T>A (p.Ser1539=) c.4302T>A (p.Ser1434=) c.2199T>A (p.Ser733=) c.4641T>A (p.Ser1547=) c.4632T>A (p.Ser1544=) c.4623T>A (p.Ser1541=) c.2961T>A (p.Ser987=) | |
X | g.108692845T>C | CA517925240 | COL4A5 | c.4626T>C (p.Ser1542=) c.4608T>C (p.Ser1536=) n.1120T>C c.24T>C (p.Ser8=) c.325-3452T>C c.4617T>C (p.Ser1539=) c.4302T>C (p.Ser1434=) c.2199T>C (p.Ser733=) c.4641T>C (p.Ser1547=) c.4632T>C (p.Ser1544=) c.4623T>C (p.Ser1541=) c.2961T>C (p.Ser987=) | |
X | g.108692845T>G | CA517925242 | COL4A5 | c.4626T>G (p.Ser1542=) c.4608T>G (p.Ser1536=) n.1120T>G c.24T>G (p.Ser8=) c.325-3452T>G c.4617T>G (p.Ser1539=) c.4302T>G (p.Ser1434=) c.2199T>G (p.Ser733=) c.4641T>G (p.Ser1547=) c.4632T>G (p.Ser1544=) c.4623T>G (p.Ser1541=) c.2961T>G (p.Ser987=) | |
X | g.108692846T>A | CA413855624 | COL4A5 | c.4627T>A (p.Tyr1543Asn) c.4609T>A (p.Tyr1537Asn) n.1121T>A c.25T>A (p.Tyr9Asn) c.325-3451T>A c.4618T>A (p.Tyr1540Asn) c.4303T>A (p.Tyr1435Asn) c.2200T>A (p.Tyr734Asn) c.4642T>A (p.Tyr1548Asn) c.4633T>A (p.Tyr1545Asn) c.4624T>A (p.Tyr1542Asn) c.2962T>A (p.Tyr988Asn) | |
X | g.108692846T>C | CA334061629 | COL4A5 | c.4627T>C (p.Tyr1543His) c.4609T>C (p.Tyr1537His) n.1121T>C c.25T>C (p.Tyr9His) c.325-3451T>C c.4618T>C (p.Tyr1540His) c.4303T>C (p.Tyr1435His) c.2200T>C (p.Tyr734His) c.4642T>C (p.Tyr1548His) c.4633T>C (p.Tyr1545His) c.4624T>C (p.Tyr1542His) c.2962T>C (p.Tyr988His) | dbSNP |
X | g.108692846T>G | CA413855625 | COL4A5 | c.4627T>G (p.Tyr1543Asp) c.4609T>G (p.Tyr1537Asp) n.1121T>G c.25T>G (p.Tyr9Asp) c.325-3451T>G c.4618T>G (p.Tyr1540Asp) c.4303T>G (p.Tyr1435Asp) c.2200T>G (p.Tyr734Asp) c.4642T>G (p.Tyr1548Asp) c.4633T>G (p.Tyr1545Asp) c.4624T>G (p.Tyr1542Asp) c.2962T>G (p.Tyr988Asp) | |
X | g.108692846T= | CA2450720872 | COL4A5 | c.4627T= (p.Tyr1543=) c.4609T= (p.Tyr1537=) n.1121T= c.25T= (p.Tyr9=) c.325-3451T= c.4618T= (p.Tyr1540=) c.4303T= (p.Tyr1435=) c.2200T= (p.Tyr734=) c.4642T= (p.Tyr1548=) c.4633T= (p.Tyr1545=) c.4624T= (p.Tyr1542=) c.2962T= (p.Tyr988=) | |
X | g.108692847A>C | CA413855626 | COL4A5 | c.4628A>C (p.Tyr1543Ser) c.4610A>C (p.Tyr1537Ser) n.1122A>C c.26A>C (p.Tyr9Ser) c.325-3450A>C c.4619A>C (p.Tyr1540Ser) c.4304A>C (p.Tyr1435Ser) c.2201A>C (p.Tyr734Ser) c.4643A>C (p.Tyr1548Ser) c.4634A>C (p.Tyr1545Ser) c.4625A>C (p.Tyr1542Ser) c.2963A>C (p.Tyr988Ser) | |
X | g.108692847A>G | CA413855627 | COL4A5 | c.4628A>G (p.Tyr1543Cys) c.4610A>G (p.Tyr1537Cys) n.1122A>G c.26A>G (p.Tyr9Cys) c.325-3450A>G c.4619A>G (p.Tyr1540Cys) c.4304A>G (p.Tyr1435Cys) c.2201A>G (p.Tyr734Cys) c.4643A>G (p.Tyr1548Cys) c.4634A>G (p.Tyr1545Cys) c.4625A>G (p.Tyr1542Cys) c.2963A>G (p.Tyr988Cys) | |
X | g.108692847A>T | CA413855628 | COL4A5 | c.4628A>T (p.Tyr1543Phe) c.4610A>T (p.Tyr1537Phe) n.1122A>T c.26A>T (p.Tyr9Phe) c.325-3450A>T c.4619A>T (p.Tyr1540Phe) c.4304A>T (p.Tyr1435Phe) c.2201A>T (p.Tyr734Phe) c.4643A>T (p.Tyr1548Phe) c.4634A>T (p.Tyr1545Phe) c.4625A>T (p.Tyr1542Phe) c.2963A>T (p.Tyr988Phe) | |
X | g.108692847dup | CA2499226312 | COL4A5 | c.4628dup (p.Tyr1543Ter) c.4610dup (p.Tyr1537Ter) n.1122dup c.26dup (p.Tyr9Ter) c.325-3450dup c.4619dup (p.Tyr1540Ter) c.4304dup (p.Tyr1435Ter) c.2201dup (p.Tyr734Ter) c.4643dup (p.Tyr1548Ter) c.4634dup (p.Tyr1545Ter) c.4625dup (p.Tyr1542Ter) c.2963dup (p.Tyr988Ter) | ClinVar dbSNP |
X | g.108692848C>A | CA413855629 | COL4A5 | c.4629C>A (p.Tyr1543Ter) c.4611C>A (p.Tyr1537Ter) n.1123C>A c.27C>A (p.Tyr9Ter) c.325-3449C>A c.4620C>A (p.Tyr1540Ter) c.4305C>A (p.Tyr1435Ter) c.2202C>A (p.Tyr734Ter) c.4644C>A (p.Tyr1548Ter) c.4635C>A (p.Tyr1545Ter) c.4626C>A (p.Tyr1542Ter) c.2964C>A (p.Tyr988Ter) | |
X | g.108692848C= | CA2450720873 | COL4A5 | c.4629C= (p.Tyr1543=) c.4611C= (p.Tyr1537=) n.1123C= c.27C= (p.Tyr9=) c.325-3449C= c.4620C= (p.Tyr1540=) c.4305C= (p.Tyr1435=) c.2202C= (p.Tyr734=) c.4644C= (p.Tyr1548=) c.4635C= (p.Tyr1545=) c.4626C= (p.Tyr1542=) c.2964C= (p.Tyr988=) | |
X | g.108692848C>G | CA413855630 | COL4A5 | c.4629C>G (p.Tyr1543Ter) c.4611C>G (p.Tyr1537Ter) n.1123C>G c.27C>G (p.Tyr9Ter) c.325-3449C>G c.4620C>G (p.Tyr1540Ter) c.4305C>G (p.Tyr1435Ter) c.2202C>G (p.Tyr734Ter) c.4644C>G (p.Tyr1548Ter) c.4635C>G (p.Tyr1545Ter) c.4626C>G (p.Tyr1542Ter) c.2964C>G (p.Tyr988Ter) | |
X | g.108692848C>T | CA10489390 | COL4A5 | c.4629C>T (p.Tyr1543=) c.4611C>T (p.Tyr1537=) n.1123C>T c.27C>T (p.Tyr9=) c.325-3449C>T c.4620C>T (p.Tyr1540=) c.4305C>T (p.Tyr1435=) c.2202C>T (p.Tyr734=) c.4644C>T (p.Tyr1548=) c.4635C>T (p.Tyr1545=) c.4626C>T (p.Tyr1542=) c.2964C>T (p.Tyr988=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108692849T>A | CA413855631 | COL4A5 | c.4630T>A (p.Trp1544Arg) c.4612T>A (p.Trp1538Arg) n.1124T>A c.28T>A (p.Trp10Arg) c.325-3448T>A c.4621T>A (p.Trp1541Arg) c.4306T>A (p.Trp1436Arg) c.2203T>A (p.Trp735Arg) c.4645T>A (p.Trp1549Arg) c.4636T>A (p.Trp1546Arg) c.4627T>A (p.Trp1543Arg) c.2965T>A (p.Trp989Arg) | |
X | g.108692849T>C | CA413855632 | COL4A5 | c.4630T>C (p.Trp1544Arg) c.4612T>C (p.Trp1538Arg) n.1124T>C c.28T>C (p.Trp10Arg) c.325-3448T>C c.4621T>C (p.Trp1541Arg) c.4306T>C (p.Trp1436Arg) c.2203T>C (p.Trp735Arg) c.4645T>C (p.Trp1549Arg) c.4636T>C (p.Trp1546Arg) c.4627T>C (p.Trp1543Arg) c.2965T>C (p.Trp989Arg) | |
X | g.108692849T>G | CA413855633 | COL4A5 | c.4630T>G (p.Trp1544Gly) c.4612T>G (p.Trp1538Gly) n.1124T>G c.28T>G (p.Trp10Gly) c.325-3448T>G c.4621T>G (p.Trp1541Gly) c.4306T>G (p.Trp1436Gly) c.2203T>G (p.Trp735Gly) c.4645T>G (p.Trp1549Gly) c.4636T>G (p.Trp1546Gly) c.4627T>G (p.Trp1543Gly) c.2965T>G (p.Trp989Gly) | |
X | g.108692850G>A | CA334061644 | COL4A5 | c.4631G>A (p.Trp1544Ter) c.4613G>A (p.Trp1538Ter) n.1125G>A c.29G>A (p.Trp10Ter) c.325-3447G>A c.4622G>A (p.Trp1541Ter) c.4307G>A (p.Trp1436Ter) c.2204G>A (p.Trp735Ter) c.4646G>A (p.Trp1549Ter) c.4637G>A (p.Trp1546Ter) c.4628G>A (p.Trp1543Ter) c.2966G>A (p.Trp989Ter) | ClinVar dbSNP |
X | g.108692850G>C | CA259071 | COL4A5 | c.4631G>C (p.Trp1544Ser) c.4613G>C (p.Trp1538Ser) n.1125G>C c.29G>C (p.Trp10Ser) c.325-3447G>C c.4622G>C (p.Trp1541Ser) c.4307G>C (p.Trp1436Ser) c.2204G>C (p.Trp735Ser) c.4646G>C (p.Trp1549Ser) c.4637G>C (p.Trp1546Ser) c.4628G>C (p.Trp1543Ser) c.2966G>C (p.Trp989Ser) | ClinVar dbSNP |
X | g.108692850G= | CA2450720874 | COL4A5 | c.4631G= (p.Trp1544=) c.4613G= (p.Trp1538=) n.1125G= c.29G= (p.Trp10=) c.325-3447G= c.4622G= (p.Trp1541=) c.4307G= (p.Trp1436=) c.2204G= (p.Trp735=) c.4646G= (p.Trp1549=) c.4637G= (p.Trp1546=) c.4628G= (p.Trp1543=) c.2966G= (p.Trp989=) | |
X | g.108692850G>T | CA413855634 | COL4A5 | c.4631G>T (p.Trp1544Leu) c.4613G>T (p.Trp1538Leu) n.1125G>T c.29G>T (p.Trp10Leu) c.325-3447G>T c.4622G>T (p.Trp1541Leu) c.4307G>T (p.Trp1436Leu) c.2204G>T (p.Trp735Leu) c.4646G>T (p.Trp1549Leu) c.4637G>T (p.Trp1546Leu) c.4628G>T (p.Trp1543Leu) c.2966G>T (p.Trp989Leu) | |
X | g.108692851G>A | CA259074 | COL4A5 | c.4632G>A (p.Trp1544Ter) c.4614G>A (p.Trp1538Ter) n.1126G>A c.30G>A (p.Trp10Ter) c.325-3446G>A c.4623G>A (p.Trp1541Ter) c.4308G>A (p.Trp1436Ter) c.2205G>A (p.Trp735Ter) c.4647G>A (p.Trp1549Ter) c.4638G>A (p.Trp1546Ter) c.4629G>A (p.Trp1543Ter) c.2967G>A (p.Trp989Ter) | dbSNP |
X | g.108692851G>C | CA413855635 | COL4A5 | c.4632G>C (p.Trp1544Cys) c.4614G>C (p.Trp1538Cys) n.1126G>C c.30G>C (p.Trp10Cys) c.325-3446G>C c.4623G>C (p.Trp1541Cys) c.4308G>C (p.Trp1436Cys) c.2205G>C (p.Trp735Cys) c.4647G>C (p.Trp1549Cys) c.4638G>C (p.Trp1546Cys) c.4629G>C (p.Trp1543Cys) c.2967G>C (p.Trp989Cys) | ClinVar dbSNP |
X | g.108692851G= | CA2450720875 | COL4A5 | c.4632G= (p.Trp1544=) c.4614G= (p.Trp1538=) n.1126G= c.30G= (p.Trp10=) c.325-3446G= c.4623G= (p.Trp1541=) c.4308G= (p.Trp1436=) c.2205G= (p.Trp735=) c.4647G= (p.Trp1549=) c.4638G= (p.Trp1546=) c.4629G= (p.Trp1543=) c.2967G= (p.Trp989=) | |
X | g.108692851G>T | CA413855636 | COL4A5 | c.4632G>T (p.Trp1544Cys) c.4614G>T (p.Trp1538Cys) n.1126G>T c.30G>T (p.Trp10Cys) c.325-3446G>T c.4623G>T (p.Trp1541Cys) c.4308G>T (p.Trp1436Cys) c.2205G>T (p.Trp735Cys) c.4647G>T (p.Trp1549Cys) c.4638G>T (p.Trp1546Cys) c.4629G>T (p.Trp1543Cys) c.2967G>T (p.Trp989Cys) | ClinVar COSMIC COSMIC |
X | g.108692852C>A | CA413855637 | COL4A5 | c.4633C>A (p.Leu1545Ile) c.4615C>A (p.Leu1539Ile) n.1127C>A c.31C>A (p.Leu11Ile) c.325-3445C>A c.4624C>A (p.Leu1542Ile) c.4309C>A (p.Leu1437Ile) c.2206C>A (p.Leu736Ile) c.4648C>A (p.Leu1550Ile) c.4639C>A (p.Leu1547Ile) c.4630C>A (p.Leu1544Ile) c.2968C>A (p.Leu990Ile) | |
X | g.108692852C>G | CA413855638 | COL4A5 | c.4633C>G (p.Leu1545Val) c.4615C>G (p.Leu1539Val) n.1127C>G c.31C>G (p.Leu11Val) c.325-3445C>G c.4624C>G (p.Leu1542Val) c.4309C>G (p.Leu1437Val) c.2206C>G (p.Leu736Val) c.4648C>G (p.Leu1550Val) c.4639C>G (p.Leu1547Val) c.4630C>G (p.Leu1544Val) c.2968C>G (p.Leu990Val) | |
X | g.108692852C>T | CA413855639 | COL4A5 | c.4633C>T (p.Leu1545Phe) c.4615C>T (p.Leu1539Phe) n.1127C>T c.31C>T (p.Leu11Phe) c.325-3445C>T c.4624C>T (p.Leu1542Phe) c.4309C>T (p.Leu1437Phe) c.2206C>T (p.Leu736Phe) c.4648C>T (p.Leu1550Phe) c.4639C>T (p.Leu1547Phe) c.4630C>T (p.Leu1544Phe) c.2968C>T (p.Leu990Phe) | gnomAD v4 |
X | g.108692853T>A | CA413855641 | COL4A5 | c.4634T>A (p.Leu1545His) c.4616T>A (p.Leu1539His) n.1128T>A c.32T>A (p.Leu11His) c.325-3444T>A c.4625T>A (p.Leu1542His) c.4310T>A (p.Leu1437His) c.2207T>A (p.Leu736His) c.4649T>A (p.Leu1550His) c.4640T>A (p.Leu1547His) c.4631T>A (p.Leu1544His) c.2969T>A (p.Leu990His) | |
X | g.108692853T>C | CA413855642 | COL4A5 | c.4634T>C (p.Leu1545Pro) c.4616T>C (p.Leu1539Pro) n.1128T>C c.32T>C (p.Leu11Pro) c.325-3444T>C c.4625T>C (p.Leu1542Pro) c.4310T>C (p.Leu1437Pro) c.2207T>C (p.Leu736Pro) c.4649T>C (p.Leu1550Pro) c.4640T>C (p.Leu1547Pro) c.4631T>C (p.Leu1544Pro) c.2969T>C (p.Leu990Pro) | |
X | g.108692853T>G | CA413855640 | COL4A5 | c.4634T>G (p.Leu1545Arg) c.4616T>G (p.Leu1539Arg) n.1128T>G c.32T>G (p.Leu11Arg) c.325-3444T>G c.4625T>G (p.Leu1542Arg) c.4310T>G (p.Leu1437Arg) c.2207T>G (p.Leu736Arg) c.4649T>G (p.Leu1550Arg) c.4640T>G (p.Leu1547Arg) c.4631T>G (p.Leu1544Arg) c.2969T>G (p.Leu990Arg) | |
X | g.108692854C>A | CA517925251 | COL4A5 | c.4635C>A (p.Leu1545=) c.4617C>A (p.Leu1539=) n.1129C>A c.33C>A (p.Leu11=) c.325-3443C>A c.4626C>A (p.Leu1542=) c.4311C>A (p.Leu1437=) c.2208C>A (p.Leu736=) c.4650C>A (p.Leu1550=) c.4641C>A (p.Leu1547=) c.4632C>A (p.Leu1544=) c.2970C>A (p.Leu990=) | |
X | g.108692854C= | CA2450720876 | COL4A5 | c.4635C= (p.Leu1545=) c.4617C= (p.Leu1539=) n.1129C= c.33C= (p.Leu11=) c.325-3443C= c.4626C= (p.Leu1542=) c.4311C= (p.Leu1437=) c.2208C= (p.Leu736=) c.4650C= (p.Leu1550=) c.4641C= (p.Leu1547=) c.4632C= (p.Leu1544=) c.2970C= (p.Leu990=) | |
X | g.108692854C>G | CA10489391 | COL4A5 | c.4635C>G (p.Leu1545=) c.4617C>G (p.Leu1539=) n.1129C>G c.33C>G (p.Leu11=) c.325-3443C>G c.4626C>G (p.Leu1542=) c.4311C>G (p.Leu1437=) c.2208C>G (p.Leu736=) c.4650C>G (p.Leu1550=) c.4641C>G (p.Leu1547=) c.4632C>G (p.Leu1544=) c.2970C>G (p.Leu990=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108692854C>T | CA517925250 | COL4A5 | c.4635C>T (p.Leu1545=) c.4617C>T (p.Leu1539=) n.1129C>T c.33C>T (p.Leu11=) c.325-3443C>T c.4626C>T (p.Leu1542=) c.4311C>T (p.Leu1437=) c.2208C>T (p.Leu736=) c.4650C>T (p.Leu1550=) c.4641C>T (p.Leu1547=) c.4632C>T (p.Leu1544=) c.2970C>T (p.Leu990=) | gnomAD v4 |
X | g.108692855T>A | CA413855643 | COL4A5 | c.4636T>A (p.Ser1546Thr) c.4618T>A (p.Ser1540Thr) n.1130T>A c.34T>A (p.Ser12Thr) c.325-3442T>A c.4627T>A (p.Ser1543Thr) c.4312T>A (p.Ser1438Thr) c.2209T>A (p.Ser737Thr) c.4651T>A (p.Ser1551Thr) c.4642T>A (p.Ser1548Thr) c.4633T>A (p.Ser1545Thr) c.2971T>A (p.Ser991Thr) | |
X | g.108692855T>C | CA413855644 | COL4A5 | c.4636T>C (p.Ser1546Pro) c.4618T>C (p.Ser1540Pro) n.1130T>C c.34T>C (p.Ser12Pro) c.325-3442T>C c.4627T>C (p.Ser1543Pro) c.4312T>C (p.Ser1438Pro) c.2209T>C (p.Ser737Pro) c.4651T>C (p.Ser1551Pro) c.4642T>C (p.Ser1548Pro) c.4633T>C (p.Ser1545Pro) c.2971T>C (p.Ser991Pro) | |
X | g.108692855T>G | CA413855645 | COL4A5 | c.4636T>G (p.Ser1546Ala) c.4618T>G (p.Ser1540Ala) n.1130T>G c.34T>G (p.Ser12Ala) c.325-3442T>G c.4627T>G (p.Ser1543Ala) c.4312T>G (p.Ser1438Ala) c.2209T>G (p.Ser737Ala) c.4651T>G (p.Ser1551Ala) c.4642T>G (p.Ser1548Ala) c.4633T>G (p.Ser1545Ala) c.2971T>G (p.Ser991Ala) | |
X | g.108692856C>A | CA334061650 | COL4A5 | c.4637C>A (p.Ser1546Tyr) c.4619C>A (p.Ser1540Tyr) n.1131C>A c.35C>A (p.Ser12Tyr) c.325-3441C>A c.4628C>A (p.Ser1543Tyr) c.4313C>A (p.Ser1438Tyr) c.2210C>A (p.Ser737Tyr) c.4652C>A (p.Ser1551Tyr) c.4643C>A (p.Ser1548Tyr) c.4634C>A (p.Ser1545Tyr) c.2972C>A (p.Ser991Tyr) | dbSNP |
X | g.108692856C= | CA2450720877 | COL4A5 | c.4637C= (p.Ser1546=) c.4619C= (p.Ser1540=) n.1131C= c.35C= (p.Ser12=) c.325-3441C= c.4628C= (p.Ser1543=) c.4313C= (p.Ser1438=) c.2210C= (p.Ser737=) c.4652C= (p.Ser1551=) c.4643C= (p.Ser1548=) c.4634C= (p.Ser1545=) c.2972C= (p.Ser991=) | |
X | g.108692856C>G | CA413855646 | COL4A5 | c.4637C>G (p.Ser1546Cys) c.4619C>G (p.Ser1540Cys) n.1131C>G c.35C>G (p.Ser12Cys) c.325-3441C>G c.4628C>G (p.Ser1543Cys) c.4313C>G (p.Ser1438Cys) c.2210C>G (p.Ser737Cys) c.4652C>G (p.Ser1551Cys) c.4643C>G (p.Ser1548Cys) c.4634C>G (p.Ser1545Cys) c.2972C>G (p.Ser991Cys) | |
X | g.108692856C>T | CA413855647 | COL4A5 | c.4637C>T (p.Ser1546Phe) c.4619C>T (p.Ser1540Phe) n.1131C>T c.35C>T (p.Ser12Phe) c.325-3441C>T c.4628C>T (p.Ser1543Phe) c.4313C>T (p.Ser1438Phe) c.2210C>T (p.Ser737Phe) c.4652C>T (p.Ser1551Phe) c.4643C>T (p.Ser1548Phe) c.4634C>T (p.Ser1545Phe) c.2972C>T (p.Ser991Phe) | |
X | g.108692857T>A | CA517925257 | COL4A5 | c.4638T>A (p.Ser1546=) c.4620T>A (p.Ser1540=) n.1132T>A c.36T>A (p.Ser12=) c.325-3440T>A c.4629T>A (p.Ser1543=) c.4314T>A (p.Ser1438=) c.2211T>A (p.Ser737=) c.4653T>A (p.Ser1551=) c.4644T>A (p.Ser1548=) c.4635T>A (p.Ser1545=) c.2973T>A (p.Ser991=) | |
X | g.108692857T>C | CA517925253 | COL4A5 | c.4638T>C (p.Ser1546=) c.4620T>C (p.Ser1540=) n.1132T>C c.36T>C (p.Ser12=) c.325-3440T>C c.4629T>C (p.Ser1543=) c.4314T>C (p.Ser1438=) c.2211T>C (p.Ser737=) c.4653T>C (p.Ser1551=) c.4644T>C (p.Ser1548=) c.4635T>C (p.Ser1545=) c.2973T>C (p.Ser991=) | |
X | g.108692857T>G | CA517925255 | COL4A5 | c.4638T>G (p.Ser1546=) c.4620T>G (p.Ser1540=) n.1132T>G c.36T>G (p.Ser12=) c.325-3440T>G c.4629T>G (p.Ser1543=) c.4314T>G (p.Ser1438=) c.2211T>G (p.Ser737=) c.4653T>G (p.Ser1551=) c.4644T>G (p.Ser1548=) c.4635T>G (p.Ser1545=) c.2973T>G (p.Ser991=) | |
X | g.108692858A>C | CA413855648 | COL4A5 | c.4639A>C (p.Thr1547Pro) c.4621A>C (p.Thr1541Pro) n.1133A>C c.37A>C (p.Thr13Pro) c.325-3439A>C c.4630A>C (p.Thr1544Pro) c.4315A>C (p.Thr1439Pro) c.2212A>C (p.Thr738Pro) c.4654A>C (p.Thr1552Pro) c.4645A>C (p.Thr1549Pro) c.4636A>C (p.Thr1546Pro) c.2974A>C (p.Thr992Pro) | |
X | g.108692858A>G | CA413855650 | COL4A5 | c.4639A>G (p.Thr1547Ala) c.4621A>G (p.Thr1541Ala) n.1133A>G c.37A>G (p.Thr13Ala) c.325-3439A>G c.4630A>G (p.Thr1544Ala) c.4315A>G (p.Thr1439Ala) c.2212A>G (p.Thr738Ala) c.4654A>G (p.Thr1552Ala) c.4645A>G (p.Thr1549Ala) c.4636A>G (p.Thr1546Ala) c.2974A>G (p.Thr992Ala) | |
X | g.108692858A>T | CA413855649 | COL4A5 | c.4639A>T (p.Thr1547Ser) c.4621A>T (p.Thr1541Ser) n.1133A>T c.37A>T (p.Thr13Ser) c.325-3439A>T c.4630A>T (p.Thr1544Ser) c.4315A>T (p.Thr1439Ser) c.2212A>T (p.Thr738Ser) c.4654A>T (p.Thr1552Ser) c.4645A>T (p.Thr1549Ser) c.4636A>T (p.Thr1546Ser) c.2974A>T (p.Thr992Ser) | |
X | g.108692859C>A | CA413855651 | COL4A5 | c.4640C>A (p.Thr1547Asn) c.4622C>A (p.Thr1541Asn) n.1134C>A c.38C>A (p.Thr13Asn) c.325-3438C>A c.4631C>A (p.Thr1544Asn) c.4316C>A (p.Thr1439Asn) c.2213C>A (p.Thr738Asn) c.4655C>A (p.Thr1552Asn) c.4646C>A (p.Thr1549Asn) c.4637C>A (p.Thr1546Asn) c.2975C>A (p.Thr992Asn) | |
X | g.108692859C>G | CA413855652 | COL4A5 | c.4640C>G (p.Thr1547Ser) c.4622C>G (p.Thr1541Ser) n.1134C>G c.38C>G (p.Thr13Ser) c.325-3438C>G c.4631C>G (p.Thr1544Ser) c.4316C>G (p.Thr1439Ser) c.2213C>G (p.Thr738Ser) c.4655C>G (p.Thr1552Ser) c.4646C>G (p.Thr1549Ser) c.4637C>G (p.Thr1546Ser) c.2975C>G (p.Thr992Ser) | |
X | g.108692859C>T | CA413855653 | COL4A5 | c.4640C>T (p.Thr1547Ile) c.4622C>T (p.Thr1541Ile) n.1134C>T c.38C>T (p.Thr13Ile) c.325-3438C>T c.4631C>T (p.Thr1544Ile) c.4316C>T (p.Thr1439Ile) c.2213C>T (p.Thr738Ile) c.4655C>T (p.Thr1552Ile) c.4646C>T (p.Thr1549Ile) c.4637C>T (p.Thr1546Ile) c.2975C>T (p.Thr992Ile) | |
X | g.108692862del | CA2579677264 | COL4A5 | c.4643del (p.Pro1548GlnfsTer6) c.4625del (p.Pro1542GlnfsTer6) n.1137del c.41del (p.Pro14GlnfsTer6) c.325-3435del c.4634del (p.Pro1545GlnfsTer6) c.4319del (p.Pro1440GlnfsTer6) c.2216del (p.Pro739GlnfsTer6) c.4658del (p.Pro1553GlnfsTer6) c.4649del (p.Pro1550GlnfsTer6) c.4640del (p.Pro1547GlnfsTer6) c.2978del (p.Pro993GlnfsTer6) | |
X | g.108692860C>A | CA10489392 | COL4A5 | c.4641C>A (p.Thr1547=) c.4623C>A (p.Thr1541=) n.1135C>A c.39C>A (p.Thr13=) c.325-3437C>A c.4632C>A (p.Thr1544=) c.4317C>A (p.Thr1439=) c.2214C>A (p.Thr738=) c.4656C>A (p.Thr1552=) c.4647C>A (p.Thr1549=) c.4638C>A (p.Thr1546=) c.2976C>A (p.Thr992=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108692860C= | CA2450720878 | COL4A5 | c.4641C= (p.Thr1547=) c.4623C= (p.Thr1541=) n.1135C= c.39C= (p.Thr13=) c.325-3437C= c.4632C= (p.Thr1544=) c.4317C= (p.Thr1439=) c.2214C= (p.Thr738=) c.4656C= (p.Thr1552=) c.4647C= (p.Thr1549=) c.4638C= (p.Thr1546=) c.2976C= (p.Thr992=) | |
X | g.108692860C>G | CA517925260 | COL4A5 | c.4641C>G (p.Thr1547=) c.4623C>G (p.Thr1541=) n.1135C>G c.39C>G (p.Thr13=) c.325-3437C>G c.4632C>G (p.Thr1544=) c.4317C>G (p.Thr1439=) c.2214C>G (p.Thr738=) c.4656C>G (p.Thr1552=) c.4647C>G (p.Thr1549=) c.4638C>G (p.Thr1546=) c.2976C>G (p.Thr992=) | |
X | g.108692860C>T | CA517925259 | COL4A5 | c.4641C>T (p.Thr1547=) c.4623C>T (p.Thr1541=) n.1135C>T c.39C>T (p.Thr13=) c.325-3437C>T c.4632C>T (p.Thr1544=) c.4317C>T (p.Thr1439=) c.2214C>T (p.Thr738=) c.4656C>T (p.Thr1552=) c.4647C>T (p.Thr1549=) c.4638C>T (p.Thr1546=) c.2976C>T (p.Thr992=) | gnomAD v4 COSMIC COSMIC |
X | g.108692861C>A | CA413855656 | COL4A5 | c.4642C>A (p.Pro1548Thr) c.4624C>A (p.Pro1542Thr) n.1136C>A c.40C>A (p.Pro14Thr) c.325-3436C>A c.4633C>A (p.Pro1545Thr) c.4318C>A (p.Pro1440Thr) c.2215C>A (p.Pro739Thr) c.4657C>A (p.Pro1553Thr) c.4648C>A (p.Pro1550Thr) c.4639C>A (p.Pro1547Thr) c.2977C>A (p.Pro993Thr) | COSMIC COSMIC |
X | g.108692861C>G | CA413855655 | COL4A5 | c.4642C>G (p.Pro1548Ala) c.4624C>G (p.Pro1542Ala) n.1136C>G c.40C>G (p.Pro14Ala) c.325-3436C>G c.4633C>G (p.Pro1545Ala) c.4318C>G (p.Pro1440Ala) c.2215C>G (p.Pro739Ala) c.4657C>G (p.Pro1553Ala) c.4648C>G (p.Pro1550Ala) c.4639C>G (p.Pro1547Ala) c.2977C>G (p.Pro993Ala) | |
X | g.108692861C>T | CA413855654 | COL4A5 | c.4642C>T (p.Pro1548Ser) c.4624C>T (p.Pro1542Ser) n.1136C>T c.40C>T (p.Pro14Ser) c.325-3436C>T c.4633C>T (p.Pro1545Ser) c.4318C>T (p.Pro1440Ser) c.2215C>T (p.Pro739Ser) c.4657C>T (p.Pro1553Ser) c.4648C>T (p.Pro1550Ser) c.4639C>T (p.Pro1547Ser) c.2977C>T (p.Pro993Ser) | |
X | g.108692862C>A | CA413855657 | COL4A5 | c.4643C>A (p.Pro1548Gln) c.4625C>A (p.Pro1542Gln) n.1137C>A c.41C>A (p.Pro14Gln) c.325-3435C>A c.4634C>A (p.Pro1545Gln) c.4319C>A (p.Pro1440Gln) c.2216C>A (p.Pro739Gln) c.4658C>A (p.Pro1553Gln) c.4649C>A (p.Pro1550Gln) c.4640C>A (p.Pro1547Gln) c.2978C>A (p.Pro993Gln) | |
X | g.108692862C= | CA2450720879 | COL4A5 | c.4643C= (p.Pro1548=) c.4625C= (p.Pro1542=) n.1137C= c.41C= (p.Pro14=) c.325-3435C= c.4634C= (p.Pro1545=) c.4319C= (p.Pro1440=) c.2216C= (p.Pro739=) c.4658C= (p.Pro1553=) c.4649C= (p.Pro1550=) c.4640C= (p.Pro1547=) c.2978C= (p.Pro993=) | |
X | g.108692862C>G | CA413855658 | COL4A5 | c.4643C>G (p.Pro1548Arg) c.4625C>G (p.Pro1542Arg) n.1137C>G c.41C>G (p.Pro14Arg) c.325-3435C>G c.4634C>G (p.Pro1545Arg) c.4319C>G (p.Pro1440Arg) c.2216C>G (p.Pro739Arg) c.4658C>G (p.Pro1553Arg) c.4649C>G (p.Pro1550Arg) c.4640C>G (p.Pro1547Arg) c.2978C>G (p.Pro993Arg) | |
X | g.108692862C>T | CA10489393 | COL4A5 | c.4643C>T (p.Pro1548Leu) c.4625C>T (p.Pro1542Leu) n.1137C>T c.41C>T (p.Pro14Leu) c.325-3435C>T c.4634C>T (p.Pro1545Leu) c.4319C>T (p.Pro1440Leu) c.2216C>T (p.Pro739Leu) c.4658C>T (p.Pro1553Leu) c.4649C>T (p.Pro1550Leu) c.4640C>T (p.Pro1547Leu) c.2978C>T (p.Pro993Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108692863A>C | CA517925264 | COL4A5 | c.4644A>C (p.Pro1548=) c.4626A>C (p.Pro1542=) n.1138A>C c.42A>C (p.Pro14=) c.325-3434A>C c.4635A>C (p.Pro1545=) c.4320A>C (p.Pro1440=) c.2217A>C (p.Pro739=) c.4659A>C (p.Pro1553=) c.4650A>C (p.Pro1550=) c.4641A>C (p.Pro1547=) c.2979A>C (p.Pro993=) | |
X | g.108692863A>G | CA517925265 | COL4A5 | c.4644A>G (p.Pro1548=) c.4626A>G (p.Pro1542=) n.1138A>G c.42A>G (p.Pro14=) c.325-3434A>G c.4635A>G (p.Pro1545=) c.4320A>G (p.Pro1440=) c.2217A>G (p.Pro739=) c.4659A>G (p.Pro1553=) c.4650A>G (p.Pro1550=) c.4641A>G (p.Pro1547=) c.2979A>G (p.Pro993=) | gnomAD v4 |
X | g.108692863A>T | CA517925266 | COL4A5 | c.4644A>T (p.Pro1548=) c.4626A>T (p.Pro1542=) n.1138A>T c.42A>T (p.Pro14=) c.325-3434A>T c.4635A>T (p.Pro1545=) c.4320A>T (p.Pro1440=) c.2217A>T (p.Pro739=) c.4659A>T (p.Pro1553=) c.4650A>T (p.Pro1550=) c.4641A>T (p.Pro1547=) c.2979A>T (p.Pro993=) |