| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108687510_108687545dup | CA259023 | COL4A5 | c.4344_4379dup (p.Gly1460_Thr1461insProAspGlyLeuGlnGlyProProGlyProProGly) c.4326_4361dup (p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyProProGly) n.838_873dup c.140_175dup c.4335_4370dup (p.Gly1457_Thr1458insProAspGlyLeuGlnGlyProProGlyProProGly) c.4020_4055dup (p.Gly1352_Thr1353insProAspGlyLeuGlnGlyProProGlyProProGly) c.1917_1952dup (p.Gly651_Thr652insProAspGlyLeuGlnGlyProProGlyProProGly) c.4359_4394dup (p.Gly1465_Thr1466insProAspGlyLeuGlnGlyProProGlyProProGly) c.4350_4385dup (p.Gly1462_Thr1463insProAspGlyLeuGlnGlyProProGlyProProGly) c.4341_4376dup (p.Gly1459_Thr1460insProAspGlyLeuGlnGlyProProGlyProProGly) c.2679_2714dup (p.Gly905_Thr906insProAspGlyLeuGlnGlyProProGlyProProGly) | dbSNP |
| X | g.108687507_108687534delinsTGGTCCAGATGGATTGCAAGGTCCCCCA | CA2450719217 | COL4A5 | c.4341_4368delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1447=) c.4323_4350delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1441=) n.835_862delinsTGGTCCAGATGGATTGCAAGGTCCCCCA c.137_164delinsTGGTCCAGATGGATTGCAAGGTCCCCCA c.4332_4359delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1444=) c.4017_4044delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1339=) c.1914_1941delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro638=) c.4356_4383delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1452=) c.4347_4374delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1449=) c.4338_4365delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1446=) c.2676_2703delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro892=) | |
| X | g.108687513_108687539del | CA259030 | COL4A5 | c.4347_4373del (p.Asp1450_Pro1458del) c.4329_4355del (p.Asp1444_Pro1452del) n.841_867del c.143_169del c.4338_4364del (p.Asp1447_Pro1455del) c.4023_4049del (p.Asp1342_Pro1350del) c.1920_1946del (p.Asp641_Pro649del) c.4362_4388del (p.Asp1455_Pro1463del) c.4353_4379del (p.Asp1452_Pro1460del) c.4344_4370del (p.Asp1449_Pro1457del) c.2682_2708del (p.Asp895_Pro903del) | dbSNP |
| X | g.108687526G>A | CA259040 | COL4A5 | c.4360G>A (p.Gly1454Ser) c.4342G>A (p.Gly1448Ser) n.854G>A c.156G>A c.4351G>A (p.Gly1451Ser) c.4036G>A (p.Gly1346Ser) c.1933G>A (p.Gly645Ser) c.4375G>A (p.Gly1459Ser) c.4366G>A (p.Gly1456Ser) c.4357G>A (p.Gly1453Ser) c.2695G>A (p.Gly899Ser) | ClinVar dbSNP |
| X | g.108687526G>C | CA413854059 | COL4A5 | c.4360G>C (p.Gly1454Arg) c.4342G>C (p.Gly1448Arg) n.854G>C c.156G>C c.4351G>C (p.Gly1451Arg) c.4036G>C (p.Gly1346Arg) c.1933G>C (p.Gly645Arg) c.4375G>C (p.Gly1459Arg) c.4366G>C (p.Gly1456Arg) c.4357G>C (p.Gly1453Arg) c.2695G>C (p.Gly899Arg) | gnomAD v4 |
| X | g.108687526G= | CA2450719238 | COL4A5 | c.4360G= (p.Gly1454=) c.4342G= (p.Gly1448=) n.854G= c.156G= c.4351G= (p.Gly1451=) c.4036G= (p.Gly1346=) c.1933G= (p.Gly645=) c.4375G= (p.Gly1459=) c.4366G= (p.Gly1456=) c.4357G= (p.Gly1453=) c.2695G= (p.Gly899=) | |
| X | g.108687526G>T | CA413854062 | COL4A5 | c.4360G>T (p.Gly1454Cys) c.4342G>T (p.Gly1448Cys) n.854G>T c.156G>T c.4351G>T (p.Gly1451Cys) c.4036G>T (p.Gly1346Cys) c.1933G>T (p.Gly645Cys) c.4375G>T (p.Gly1459Cys) c.4366G>T (p.Gly1456Cys) c.4357G>T (p.Gly1453Cys) c.2695G>T (p.Gly899Cys) | |
| X | g.108687526_108687527delinsAA | CA645617759 | COL4A5 | c.4360_4361delinsAA (p.Gly1454Asn) c.4342_4343delinsAA (p.Gly1448Asn) n.854_855delinsAA c.156_157delinsAA c.4351_4352delinsAA (p.Gly1451Asn) c.4036_4037delinsAA (p.Gly1346Asn) c.1933_1934delinsAA (p.Gly645Asn) c.4375_4376delinsAA (p.Gly1459Asn) c.4366_4367delinsAA (p.Gly1456Asn) c.4357_4358delinsAA (p.Gly1453Asn) c.2695_2696delinsAA (p.Gly899Asn) | COSMIC COSMIC |
| X | g.108687527G>A | CA413854063 | COL4A5 | c.4361G>A (p.Gly1454Asp) c.4343G>A (p.Gly1448Asp) n.855G>A c.157G>A c.4352G>A (p.Gly1451Asp) c.4037G>A (p.Gly1346Asp) c.1934G>A (p.Gly645Asp) c.4376G>A (p.Gly1459Asp) c.4367G>A (p.Gly1456Asp) c.4358G>A (p.Gly1453Asp) c.2696G>A (p.Gly899Asp) | |
| X | g.108687527G>C | CA413854065 | COL4A5 | c.4361G>C (p.Gly1454Ala) c.4343G>C (p.Gly1448Ala) n.855G>C c.157G>C c.4352G>C (p.Gly1451Ala) c.4037G>C (p.Gly1346Ala) c.1934G>C (p.Gly645Ala) c.4376G>C (p.Gly1459Ala) c.4367G>C (p.Gly1456Ala) c.4358G>C (p.Gly1453Ala) c.2696G>C (p.Gly899Ala) | |
| X | g.108687527G= | CA2450719241 | COL4A5 | c.4361G= (p.Gly1454=) c.4343G= (p.Gly1448=) n.855G= c.157G= c.4352G= (p.Gly1451=) c.4037G= (p.Gly1346=) c.1934G= (p.Gly645=) c.4376G= (p.Gly1459=) c.4367G= (p.Gly1456=) c.4358G= (p.Gly1453=) c.2696G= (p.Gly899=) | |
| X | g.108687527G>T | CA413854067 | COL4A5 | c.4361G>T (p.Gly1454Val) c.4343G>T (p.Gly1448Val) n.855G>T c.157G>T c.4352G>T (p.Gly1451Val) c.4037G>T (p.Gly1346Val) c.1934G>T (p.Gly645Val) c.4376G>T (p.Gly1459Val) c.4367G>T (p.Gly1456Val) c.4358G>T (p.Gly1453Val) c.2696G>T (p.Gly899Val) | |
| X | g.108687528T>A | CA517924470 | COL4A5 | c.4362T>A (p.Gly1454=) c.4344T>A (p.Gly1448=) n.856T>A c.158T>A c.4353T>A (p.Gly1451=) c.4038T>A (p.Gly1346=) c.1935T>A (p.Gly645=) c.4377T>A (p.Gly1459=) c.4368T>A (p.Gly1456=) c.4359T>A (p.Gly1453=) c.2697T>A (p.Gly899=) | |
| X | g.108687528T>C | CA517924472 | COL4A5 | c.4362T>C (p.Gly1454=) c.4344T>C (p.Gly1448=) n.856T>C c.158T>C c.4353T>C (p.Gly1451=) c.4038T>C (p.Gly1346=) c.1935T>C (p.Gly645=) c.4377T>C (p.Gly1459=) c.4368T>C (p.Gly1456=) c.4359T>C (p.Gly1453=) c.2697T>C (p.Gly899=) | |
| X | g.108687528T>G | CA517924471 | COL4A5 | c.4362T>G (p.Gly1454=) c.4344T>G (p.Gly1448=) n.856T>G c.158T>G c.4353T>G (p.Gly1451=) c.4038T>G (p.Gly1346=) c.1935T>G (p.Gly645=) c.4377T>G (p.Gly1459=) c.4368T>G (p.Gly1456=) c.4359T>G (p.Gly1453=) c.2697T>G (p.Gly899=) | |
| X | g.108687528dup | CA259044 | COL4A5 | c.4362dup (p.Pro1455SerfsTer?) c.4344dup (p.Pro1449SerfsTer?) n.856dup c.158dup c.4353dup (p.Pro1452SerfsTer?) c.4038dup (p.Pro1347SerfsTer?) c.1935dup (p.Pro646SerfsTer?) c.4377dup (p.Pro1460SerfsTer?) c.4368dup (p.Pro1457SerfsTer?) c.4359dup (p.Pro1454SerfsTer?) c.2697dup (p.Pro900SerfsTer?) | dbSNP |
| X | g.108687528_108687529delinsTC | CA2450719242 | COL4A5 | c.4362_4363delinsTC (p.Gly1454=) c.4344_4345delinsTC (p.Gly1448=) n.856_857delinsTC c.158_159delinsTC c.4353_4354delinsTC (p.Gly1451=) c.4038_4039delinsTC (p.Gly1346=) c.1935_1936delinsTC (p.Gly645=) c.4377_4378delinsTC (p.Gly1459=) c.4368_4369delinsTC (p.Gly1456=) c.4359_4360delinsTC (p.Gly1453=) c.2697_2698delinsTC (p.Gly899=) | |
| X | g.108687529C>A | CA413854074 | COL4A5 | c.4363C>A (p.Pro1455Thr) c.4345C>A (p.Pro1449Thr) n.857C>A c.159C>A c.4354C>A (p.Pro1452Thr) c.4039C>A (p.Pro1347Thr) c.1936C>A (p.Pro646Thr) c.4378C>A (p.Pro1460Thr) c.4369C>A (p.Pro1457Thr) c.4360C>A (p.Pro1454Thr) c.2698C>A (p.Pro900Thr) | |
| X | g.108687529C>G | CA413854070 | COL4A5 | c.4363C>G (p.Pro1455Ala) c.4345C>G (p.Pro1449Ala) n.857C>G c.159C>G c.4354C>G (p.Pro1452Ala) c.4039C>G (p.Pro1347Ala) c.1936C>G (p.Pro646Ala) c.4378C>G (p.Pro1460Ala) c.4369C>G (p.Pro1457Ala) c.4360C>G (p.Pro1454Ala) c.2698C>G (p.Pro900Ala) | |
| X | g.108687529C>T | CA413854072 | COL4A5 | c.4363C>T (p.Pro1455Ser) c.4345C>T (p.Pro1449Ser) n.857C>T c.159C>T c.4354C>T (p.Pro1452Ser) c.4039C>T (p.Pro1347Ser) c.1936C>T (p.Pro646Ser) c.4378C>T (p.Pro1460Ser) c.4369C>T (p.Pro1457Ser) c.4360C>T (p.Pro1454Ser) c.2698C>T (p.Pro900Ser) | gnomAD v4 |
| X | g.108687533del | CA259045 | COL4A5 | c.4367del (p.Pro1456GlnfsTer?) c.4349del (p.Pro1450GlnfsTer?) n.861del c.163del c.4358del (p.Pro1453GlnfsTer?) c.4043del (p.Pro1348GlnfsTer?) c.1940del (p.Pro647GlnfsTer?) c.4382del (p.Pro1461GlnfsTer?) c.4373del (p.Pro1458GlnfsTer?) c.4364del (p.Pro1455GlnfsTer?) c.2702del (p.Pro901GlnfsTer?) | dbSNP |
| X | g.108687530C>A | CA413854076 | COL4A5 | c.4364C>A (p.Pro1455His) c.4346C>A (p.Pro1449His) n.858C>A c.160C>A c.4355C>A (p.Pro1452His) c.4040C>A (p.Pro1347His) c.1937C>A (p.Pro646His) c.4379C>A (p.Pro1460His) c.4370C>A (p.Pro1457His) c.4361C>A (p.Pro1454His) c.2699C>A (p.Pro900His) | |
| X | g.108687530C= | CA2450719244 | COL4A5 | c.4364C= (p.Pro1455=) c.4346C= (p.Pro1449=) n.858C= c.160C= c.4355C= (p.Pro1452=) c.4040C= (p.Pro1347=) c.1937C= (p.Pro646=) c.4379C= (p.Pro1460=) c.4370C= (p.Pro1457=) c.4361C= (p.Pro1454=) c.2699C= (p.Pro900=) | |
| X | g.108687530C>G | CA413854078 | COL4A5 | c.4364C>G (p.Pro1455Arg) c.4346C>G (p.Pro1449Arg) n.858C>G c.160C>G c.4355C>G (p.Pro1452Arg) c.4040C>G (p.Pro1347Arg) c.1937C>G (p.Pro646Arg) c.4379C>G (p.Pro1460Arg) c.4370C>G (p.Pro1457Arg) c.4361C>G (p.Pro1454Arg) c.2699C>G (p.Pro900Arg) | |
| X | g.108687530C>T | CA413854080 | COL4A5 | c.4364C>T (p.Pro1455Leu) c.4346C>T (p.Pro1449Leu) n.858C>T c.160C>T c.4355C>T (p.Pro1452Leu) c.4040C>T (p.Pro1347Leu) c.1937C>T (p.Pro646Leu) c.4379C>T (p.Pro1460Leu) c.4370C>T (p.Pro1457Leu) c.4361C>T (p.Pro1454Leu) c.2699C>T (p.Pro900Leu) | ClinVar dbSNP gnomAD v2 |
| X | g.108687531C>A | CA517924478 | COL4A5 | c.4365C>A (p.Pro1455=) c.4347C>A (p.Pro1449=) n.859C>A c.161C>A c.4356C>A (p.Pro1452=) c.4041C>A (p.Pro1347=) c.1938C>A (p.Pro646=) c.4380C>A (p.Pro1460=) c.4371C>A (p.Pro1457=) c.4362C>A (p.Pro1454=) c.2700C>A (p.Pro900=) | |
| X | g.108687531C>G | CA517924479 | COL4A5 | c.4365C>G (p.Pro1455=) c.4347C>G (p.Pro1449=) n.859C>G c.161C>G c.4356C>G (p.Pro1452=) c.4041C>G (p.Pro1347=) c.1938C>G (p.Pro646=) c.4380C>G (p.Pro1460=) c.4371C>G (p.Pro1457=) c.4362C>G (p.Pro1454=) c.2700C>G (p.Pro900=) | |
| X | g.108687531C>T | CA517924480 | COL4A5 | c.4365C>T (p.Pro1455=) c.4347C>T (p.Pro1449=) n.859C>T c.161C>T c.4356C>T (p.Pro1452=) c.4041C>T (p.Pro1347=) c.1938C>T (p.Pro646=) c.4380C>T (p.Pro1460=) c.4371C>T (p.Pro1457=) c.4362C>T (p.Pro1454=) c.2700C>T (p.Pro900=) | |
| X | g.108687532C>A | CA413854081 | COL4A5 | c.4366C>A (p.Pro1456Thr) c.4348C>A (p.Pro1450Thr) n.860C>A c.162C>A c.4357C>A (p.Pro1453Thr) c.4042C>A (p.Pro1348Thr) c.1939C>A (p.Pro647Thr) c.4381C>A (p.Pro1461Thr) c.4372C>A (p.Pro1458Thr) c.4363C>A (p.Pro1455Thr) c.2701C>A (p.Pro901Thr) | |
| X | g.108687532C>G | CA413854083 | COL4A5 | c.4366C>G (p.Pro1456Ala) c.4348C>G (p.Pro1450Ala) n.860C>G c.162C>G c.4357C>G (p.Pro1453Ala) c.4042C>G (p.Pro1348Ala) c.1939C>G (p.Pro647Ala) c.4381C>G (p.Pro1461Ala) c.4372C>G (p.Pro1458Ala) c.4363C>G (p.Pro1455Ala) c.2701C>G (p.Pro901Ala) | COSMIC COSMIC |
| X | g.108687532C>T | CA413854085 | COL4A5 | c.4366C>T (p.Pro1456Ser) c.4348C>T (p.Pro1450Ser) n.860C>T c.162C>T c.4357C>T (p.Pro1453Ser) c.4042C>T (p.Pro1348Ser) c.1939C>T (p.Pro647Ser) c.4381C>T (p.Pro1461Ser) c.4372C>T (p.Pro1458Ser) c.4363C>T (p.Pro1455Ser) c.2701C>T (p.Pro901Ser) | |
| X | g.108687533C>A | CA413854090 | COL4A5 | c.4367C>A (p.Pro1456Gln) c.4349C>A (p.Pro1450Gln) n.861C>A c.163C>A c.4358C>A (p.Pro1453Gln) c.4043C>A (p.Pro1348Gln) c.1940C>A (p.Pro647Gln) c.4382C>A (p.Pro1461Gln) c.4373C>A (p.Pro1458Gln) c.4364C>A (p.Pro1455Gln) c.2702C>A (p.Pro901Gln) | |
| X | g.108687533C>G | CA413854089 | COL4A5 | c.4367C>G (p.Pro1456Arg) c.4349C>G (p.Pro1450Arg) n.861C>G c.163C>G c.4358C>G (p.Pro1453Arg) c.4043C>G (p.Pro1348Arg) c.1940C>G (p.Pro647Arg) c.4382C>G (p.Pro1461Arg) c.4373C>G (p.Pro1458Arg) c.4364C>G (p.Pro1455Arg) c.2702C>G (p.Pro901Arg) | gnomAD v4 |
| X | g.108687533C>T | CA413854087 | COL4A5 | c.4367C>T (p.Pro1456Leu) c.4349C>T (p.Pro1450Leu) n.861C>T c.163C>T c.4358C>T (p.Pro1453Leu) c.4043C>T (p.Pro1348Leu) c.1940C>T (p.Pro647Leu) c.4382C>T (p.Pro1461Leu) c.4373C>T (p.Pro1458Leu) c.4364C>T (p.Pro1455Leu) c.2702C>T (p.Pro901Leu) | |
| X | g.108687534A>C | CA517924486 | COL4A5 | c.4368A>C (p.Pro1456=) c.4350A>C (p.Pro1450=) n.862A>C c.164A>C c.4359A>C (p.Pro1453=) c.4044A>C (p.Pro1348=) c.1941A>C (p.Pro647=) c.4383A>C (p.Pro1461=) c.4374A>C (p.Pro1458=) c.4365A>C (p.Pro1455=) c.2703A>C (p.Pro901=) | ClinVar dbSNP |
| X | g.108687534A>G | CA517924487 | COL4A5 | c.4368A>G (p.Pro1456=) c.4350A>G (p.Pro1450=) n.862A>G c.164A>G c.4359A>G (p.Pro1453=) c.4044A>G (p.Pro1348=) c.1941A>G (p.Pro647=) c.4383A>G (p.Pro1461=) c.4374A>G (p.Pro1458=) c.4365A>G (p.Pro1455=) c.2703A>G (p.Pro901=) | |
| X | g.108687534A>T | CA517924488 | COL4A5 | c.4368A>T (p.Pro1456=) c.4350A>T (p.Pro1450=) n.862A>T c.164A>T c.4359A>T (p.Pro1453=) c.4044A>T (p.Pro1348=) c.1941A>T (p.Pro647=) c.4383A>T (p.Pro1461=) c.4374A>T (p.Pro1458=) c.4365A>T (p.Pro1455=) c.2703A>T (p.Pro901=) | gnomAD v4 |
| X | g.108687535G>A | CA259033 | COL4A5 | c.4369G>A (p.Gly1457Ser) c.4351G>A (p.Gly1451Ser) n.863G>A c.165G>A c.4360G>A (p.Gly1454Ser) c.4045G>A (p.Gly1349Ser) c.1942G>A (p.Gly648Ser) c.4384G>A (p.Gly1462Ser) c.4375G>A (p.Gly1459Ser) c.4366G>A (p.Gly1456Ser) c.2704G>A (p.Gly902Ser) | dbSNP |
| X | g.108687535G>C | CA413854092 | COL4A5 | c.4369G>C (p.Gly1457Arg) c.4351G>C (p.Gly1451Arg) n.863G>C c.165G>C c.4360G>C (p.Gly1454Arg) c.4045G>C (p.Gly1349Arg) c.1942G>C (p.Gly648Arg) c.4384G>C (p.Gly1462Arg) c.4375G>C (p.Gly1459Arg) c.4366G>C (p.Gly1456Arg) c.2704G>C (p.Gly902Arg) | |
| X | g.108687535G= | CA2450719245 | COL4A5 | c.4369G= (p.Gly1457=) c.4351G= (p.Gly1451=) n.863G= c.165G= c.4360G= (p.Gly1454=) c.4045G= (p.Gly1349=) c.1942G= (p.Gly648=) c.4384G= (p.Gly1462=) c.4375G= (p.Gly1459=) c.4366G= (p.Gly1456=) c.2704G= (p.Gly902=) | |
| X | g.108687535G>T | CA413854094 | COL4A5 | c.4369G>T (p.Gly1457Cys) c.4351G>T (p.Gly1451Cys) n.863G>T c.165G>T c.4360G>T (p.Gly1454Cys) c.4045G>T (p.Gly1349Cys) c.1942G>T (p.Gly648Cys) c.4384G>T (p.Gly1462Cys) c.4375G>T (p.Gly1459Cys) c.4366G>T (p.Gly1456Cys) c.2704G>T (p.Gly902Cys) | |
| X | g.108687536G>A | CA413854096 | COL4A5 | c.4370G>A (p.Gly1457Asp) c.4352G>A (p.Gly1451Asp) n.864G>A c.166G>A c.4361G>A (p.Gly1454Asp) c.4046G>A (p.Gly1349Asp) c.1943G>A (p.Gly648Asp) c.4385G>A (p.Gly1462Asp) c.4376G>A (p.Gly1459Asp) c.4367G>A (p.Gly1456Asp) c.2705G>A (p.Gly902Asp) | gnomAD v4 |
| X | g.108687536G>C | CA413854097 | COL4A5 | c.4370G>C (p.Gly1457Ala) c.4352G>C (p.Gly1451Ala) n.864G>C c.166G>C c.4361G>C (p.Gly1454Ala) c.4046G>C (p.Gly1349Ala) c.1943G>C (p.Gly648Ala) c.4385G>C (p.Gly1462Ala) c.4376G>C (p.Gly1459Ala) c.4367G>C (p.Gly1456Ala) c.2705G>C (p.Gly902Ala) | |
| X | g.108687536G= | CA2450719248 | COL4A5 | c.4370G= (p.Gly1457=) c.4352G= (p.Gly1451=) n.864G= c.166G= c.4361G= (p.Gly1454=) c.4046G= (p.Gly1349=) c.1943G= (p.Gly648=) c.4385G= (p.Gly1462=) c.4376G= (p.Gly1459=) c.4367G= (p.Gly1456=) c.2705G= (p.Gly902=) | |
| X | g.108687536G>T | CA413854099 | COL4A5 | c.4370G>T (p.Gly1457Val) c.4352G>T (p.Gly1451Val) n.864G>T c.166G>T c.4361G>T (p.Gly1454Val) c.4046G>T (p.Gly1349Val) c.1943G>T (p.Gly648Val) c.4385G>T (p.Gly1462Val) c.4376G>T (p.Gly1459Val) c.4367G>T (p.Gly1456Val) c.2705G>T (p.Gly902Val) | |
| X | g.108687537T>A | CA517924495 | COL4A5 | c.4371T>A (p.Gly1457=) c.4353T>A (p.Gly1451=) n.865T>A c.167T>A c.4362T>A (p.Gly1454=) c.4047T>A (p.Gly1349=) c.1944T>A (p.Gly648=) c.4386T>A (p.Gly1462=) c.4377T>A (p.Gly1459=) c.4368T>A (p.Gly1456=) c.2706T>A (p.Gly902=) | |
| X | g.108687537T>C | CA517924496 | COL4A5 | c.4371T>C (p.Gly1457=) c.4353T>C (p.Gly1451=) n.865T>C c.167T>C c.4362T>C (p.Gly1454=) c.4047T>C (p.Gly1349=) c.1944T>C (p.Gly648=) c.4386T>C (p.Gly1462=) c.4377T>C (p.Gly1459=) c.4368T>C (p.Gly1456=) c.2706T>C (p.Gly902=) | gnomAD v4 |
| X | g.108687537T>G | CA517924497 | COL4A5 | c.4371T>G (p.Gly1457=) c.4353T>G (p.Gly1451=) n.865T>G c.167T>G c.4362T>G (p.Gly1454=) c.4047T>G (p.Gly1349=) c.1944T>G (p.Gly648=) c.4386T>G (p.Gly1462=) c.4377T>G (p.Gly1459=) c.4368T>G (p.Gly1456=) c.2706T>G (p.Gly902=) | gnomAD v4 |
| X | g.108687537T= | CA2450719249 | COL4A5 | c.4371T= (p.Gly1457=) c.4353T= (p.Gly1451=) n.865T= c.167T= c.4362T= (p.Gly1454=) c.4047T= (p.Gly1349=) c.1944T= (p.Gly648=) c.4386T= (p.Gly1462=) c.4377T= (p.Gly1459=) c.4368T= (p.Gly1456=) c.2706T= (p.Gly902=) | |
| X | g.108687538C>A | CA413854101 | COL4A5 | c.4372C>A (p.Pro1458Thr) c.4354C>A (p.Pro1452Thr) n.866C>A c.168C>A c.4363C>A (p.Pro1455Thr) c.4048C>A (p.Pro1350Thr) c.1945C>A (p.Pro649Thr) c.4387C>A (p.Pro1463Thr) c.4378C>A (p.Pro1460Thr) c.4369C>A (p.Pro1457Thr) c.2707C>A (p.Pro903Thr) |