UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108687488_108687515delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA | CA2450719203 | COL4A5 | c.4322_4349delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1441=) c.4304_4331delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1435=) n.816_843delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA c.118_145delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA c.4313_4340delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1438=) c.3998_4025delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1333=) c.1895_1922delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg632=) c.4337_4364delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1446=) c.4328_4355delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1443=) c.4319_4346delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1440=) c.2657_2684delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg886=) | |
| X | g.108687492_108687518del | CA334058980 | COL4A5 | c.4326_4352del (p.Leu1443_Gly1451del) c.4308_4334del (p.Leu1437_Gly1445del) n.820_846del c.122_148del c.4317_4343del (p.Leu1440_Gly1448del) c.4002_4028del (p.Leu1335_Gly1343del) c.1899_1925del (p.Leu634_Gly642del) c.4341_4367del (p.Leu1448_Gly1456del) c.4332_4358del (p.Leu1445_Gly1453del) c.4323_4349del (p.Leu1442_Gly1450del) c.2661_2687del (p.Leu888_Gly896del) | dbSNP |
| 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.108687509dup | CA2695235234 | COL4A5 | c.4343dup (p.Pro1449SerfsTer?) c.4325dup (p.Pro1443SerfsTer?) n.837dup c.139dup c.4334dup (p.Pro1446SerfsTer?) c.4019dup (p.Pro1341SerfsTer?) c.1916dup (p.Pro640SerfsTer?) c.4358dup (p.Pro1454SerfsTer?) c.4349dup (p.Pro1451SerfsTer?) c.4340dup (p.Pro1448SerfsTer?) c.2678dup (p.Pro894SerfsTer?) | |
| X | g.108687509del | CA2579677160 | COL4A5 | c.4343del (p.Gly1448ValfsTer?) c.4325del (p.Gly1442ValfsTer?) n.837del c.139del c.4334del (p.Gly1445ValfsTer?) c.4019del (p.Gly1340ValfsTer?) c.1916del (p.Gly639ValfsTer?) c.4358del (p.Gly1453ValfsTer?) c.4349del (p.Gly1450ValfsTer?) c.4340del (p.Gly1447ValfsTer?) c.2678del (p.Gly893ValfsTer?) | |
| 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.108687509G>A | CA259038 | COL4A5 | c.4343G>A (p.Gly1448Asp) c.4325G>A (p.Gly1442Asp) n.837G>A c.139G>A c.4334G>A (p.Gly1445Asp) c.4019G>A (p.Gly1340Asp) c.1916G>A (p.Gly639Asp) c.4358G>A (p.Gly1453Asp) c.4349G>A (p.Gly1450Asp) c.4340G>A (p.Gly1447Asp) c.2678G>A (p.Gly893Asp) | dbSNP |
| X | g.108687509G>C | CA259035 | COL4A5 | c.4343G>C (p.Gly1448Ala) c.4325G>C (p.Gly1442Ala) n.837G>C c.139G>C c.4334G>C (p.Gly1445Ala) c.4019G>C (p.Gly1340Ala) c.1916G>C (p.Gly639Ala) c.4358G>C (p.Gly1453Ala) c.4349G>C (p.Gly1450Ala) c.4340G>C (p.Gly1447Ala) c.2678G>C (p.Gly893Ala) | dbSNP |
| X | g.108687509G= | CA2450719222 | COL4A5 | c.4343G= (p.Gly1448=) c.4325G= (p.Gly1442=) n.837G= c.139G= c.4334G= (p.Gly1445=) c.4019G= (p.Gly1340=) c.1916G= (p.Gly639=) c.4358G= (p.Gly1453=) c.4349G= (p.Gly1450=) c.4340G= (p.Gly1447=) c.2678G= (p.Gly893=) | |
| X | g.108687509G>T | CA413853987 | COL4A5 | c.4343G>T (p.Gly1448Val) c.4325G>T (p.Gly1442Val) n.837G>T c.139G>T c.4334G>T (p.Gly1445Val) c.4019G>T (p.Gly1340Val) c.1916G>T (p.Gly639Val) c.4358G>T (p.Gly1453Val) c.4349G>T (p.Gly1450Val) c.4340G>T (p.Gly1447Val) c.2678G>T (p.Gly893Val) | |
| X | g.108687510T>A | CA517924437 | COL4A5 | c.4344T>A (p.Gly1448=) c.4326T>A (p.Gly1442=) n.838T>A c.140T>A c.4335T>A (p.Gly1445=) c.4020T>A (p.Gly1340=) c.1917T>A (p.Gly639=) c.4359T>A (p.Gly1453=) c.4350T>A (p.Gly1450=) c.4341T>A (p.Gly1447=) c.2679T>A (p.Gly893=) | |
| X | g.108687510T>C | CA10489347 | COL4A5 | c.4344T>C (p.Gly1448=) c.4326T>C (p.Gly1442=) n.838T>C c.140T>C c.4335T>C (p.Gly1445=) c.4020T>C (p.Gly1340=) c.1917T>C (p.Gly639=) c.4359T>C (p.Gly1453=) c.4350T>C (p.Gly1450=) c.4341T>C (p.Gly1447=) c.2679T>C (p.Gly893=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108687510T>G | CA517924439 | COL4A5 | c.4344T>G (p.Gly1448=) c.4326T>G (p.Gly1442=) n.838T>G c.140T>G c.4335T>G (p.Gly1445=) c.4020T>G (p.Gly1340=) c.1917T>G (p.Gly639=) c.4359T>G (p.Gly1453=) c.4350T>G (p.Gly1450=) c.4341T>G (p.Gly1447=) c.2679T>G (p.Gly893=) | |
| X | g.108687510T= | CA2450719224 | COL4A5 | c.4344T= (p.Gly1448=) c.4326T= (p.Gly1442=) n.838T= c.140T= c.4335T= (p.Gly1445=) c.4020T= (p.Gly1340=) c.1917T= (p.Gly639=) c.4359T= (p.Gly1453=) c.4350T= (p.Gly1450=) c.4341T= (p.Gly1447=) c.2679T= (p.Gly893=) | |
| X | g.108687510dup | CA259043 | COL4A5 | c.4344dup (p.Pro1449SerfsTer?) c.4326dup (p.Pro1443SerfsTer?) n.838dup c.140dup c.4335dup (p.Pro1446SerfsTer?) c.4020dup (p.Pro1341SerfsTer?) c.1917dup (p.Pro640SerfsTer?) c.4359dup (p.Pro1454SerfsTer?) c.4350dup (p.Pro1451SerfsTer?) c.4341dup (p.Pro1448SerfsTer?) c.2679dup (p.Pro894SerfsTer?) | dbSNP |
| X | g.108687511C>A | CA413853991 | COL4A5 | c.4345C>A (p.Pro1449Thr) c.4327C>A (p.Pro1443Thr) n.839C>A c.141C>A c.4336C>A (p.Pro1446Thr) c.4021C>A (p.Pro1341Thr) c.1918C>A (p.Pro640Thr) c.4360C>A (p.Pro1454Thr) c.4351C>A (p.Pro1451Thr) c.4342C>A (p.Pro1448Thr) c.2680C>A (p.Pro894Thr) | gnomAD v4 |
| X | g.108687511C= | CA2450719225 | COL4A5 | c.4345C= (p.Pro1449=) c.4327C= (p.Pro1443=) n.839C= c.141C= c.4336C= (p.Pro1446=) c.4021C= (p.Pro1341=) c.1918C= (p.Pro640=) c.4360C= (p.Pro1454=) c.4351C= (p.Pro1451=) c.4342C= (p.Pro1448=) c.2680C= (p.Pro894=) | |
| X | g.108687511C>G | CA413853992 | COL4A5 | c.4345C>G (p.Pro1449Ala) c.4327C>G (p.Pro1443Ala) n.839C>G c.141C>G c.4336C>G (p.Pro1446Ala) c.4021C>G (p.Pro1341Ala) c.1918C>G (p.Pro640Ala) c.4360C>G (p.Pro1454Ala) c.4351C>G (p.Pro1451Ala) c.4342C>G (p.Pro1448Ala) c.2680C>G (p.Pro894Ala) | |
| X | g.108687511C>T | CA413853993 | COL4A5 | c.4345C>T (p.Pro1449Ser) c.4327C>T (p.Pro1443Ser) n.839C>T c.141C>T c.4336C>T (p.Pro1446Ser) c.4021C>T (p.Pro1341Ser) c.1918C>T (p.Pro640Ser) c.4360C>T (p.Pro1454Ser) c.4351C>T (p.Pro1451Ser) c.4342C>T (p.Pro1448Ser) c.2680C>T (p.Pro894Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108687512C>A | CA413853996 | COL4A5 | c.4346C>A (p.Pro1449Gln) c.4328C>A (p.Pro1443Gln) n.840C>A c.142C>A c.4337C>A (p.Pro1446Gln) c.4022C>A (p.Pro1341Gln) c.1919C>A (p.Pro640Gln) c.4361C>A (p.Pro1454Gln) c.4352C>A (p.Pro1451Gln) c.4343C>A (p.Pro1448Gln) c.2681C>A (p.Pro894Gln) | |
| X | g.108687512C= | CA2450719227 | COL4A5 | c.4346C= (p.Pro1449=) c.4328C= (p.Pro1443=) n.840C= c.142C= c.4337C= (p.Pro1446=) c.4022C= (p.Pro1341=) c.1919C= (p.Pro640=) c.4361C= (p.Pro1454=) c.4352C= (p.Pro1451=) c.4343C= (p.Pro1448=) c.2681C= (p.Pro894=) | |
| X | g.108687512C>G | CA413853998 | COL4A5 | c.4346C>G (p.Pro1449Arg) c.4328C>G (p.Pro1443Arg) n.840C>G c.142C>G c.4337C>G (p.Pro1446Arg) c.4022C>G (p.Pro1341Arg) c.1919C>G (p.Pro640Arg) c.4361C>G (p.Pro1454Arg) c.4352C>G (p.Pro1451Arg) c.4343C>G (p.Pro1448Arg) c.2681C>G (p.Pro894Arg) | gnomAD v4 |
| X | g.108687512C>T | CA334059083 | COL4A5 | c.4346C>T (p.Pro1449Leu) c.4328C>T (p.Pro1443Leu) n.840C>T c.142C>T c.4337C>T (p.Pro1446Leu) c.4022C>T (p.Pro1341Leu) c.1919C>T (p.Pro640Leu) c.4361C>T (p.Pro1454Leu) c.4352C>T (p.Pro1451Leu) c.4343C>T (p.Pro1448Leu) c.2681C>T (p.Pro894Leu) | dbSNP |
| X | g.108687513A>C | CA517924440 | COL4A5 | c.4347A>C (p.Pro1449=) c.4329A>C (p.Pro1443=) n.841A>C c.143A>C c.4338A>C (p.Pro1446=) c.4023A>C (p.Pro1341=) c.1920A>C (p.Pro640=) c.4362A>C (p.Pro1454=) c.4353A>C (p.Pro1451=) c.4344A>C (p.Pro1448=) c.2682A>C (p.Pro894=) | |
| X | g.108687513A>G | CA517924442 | COL4A5 | c.4347A>G (p.Pro1449=) c.4329A>G (p.Pro1443=) n.841A>G c.143A>G c.4338A>G (p.Pro1446=) c.4023A>G (p.Pro1341=) c.1920A>G (p.Pro640=) c.4362A>G (p.Pro1454=) c.4353A>G (p.Pro1451=) c.4344A>G (p.Pro1448=) c.2682A>G (p.Pro894=) | |
| X | g.108687513A>T | CA517924444 | COL4A5 | c.4347A>T (p.Pro1449=) c.4329A>T (p.Pro1443=) n.841A>T c.143A>T c.4338A>T (p.Pro1446=) c.4023A>T (p.Pro1341=) c.1920A>T (p.Pro640=) c.4362A>T (p.Pro1454=) c.4353A>T (p.Pro1451=) c.4344A>T (p.Pro1448=) c.2682A>T (p.Pro894=) | |
| X | g.108687514G>A | CA413854002 | COL4A5 | c.4348G>A (p.Asp1450Asn) c.4330G>A (p.Asp1444Asn) n.842G>A c.144G>A c.4339G>A (p.Asp1447Asn) c.4024G>A (p.Asp1342Asn) c.1921G>A (p.Asp641Asn) c.4363G>A (p.Asp1455Asn) c.4354G>A (p.Asp1452Asn) c.4345G>A (p.Asp1449Asn) c.2683G>A (p.Asp895Asn) | |
| X | g.108687514G>C | CA413854003 | COL4A5 | c.4348G>C (p.Asp1450His) c.4330G>C (p.Asp1444His) n.842G>C c.144G>C c.4339G>C (p.Asp1447His) c.4024G>C (p.Asp1342His) c.1921G>C (p.Asp641His) c.4363G>C (p.Asp1455His) c.4354G>C (p.Asp1452His) c.4345G>C (p.Asp1449His) c.2683G>C (p.Asp895His) | |
| X | g.108687514G>T | CA413854005 | COL4A5 | c.4348G>T (p.Asp1450Tyr) c.4330G>T (p.Asp1444Tyr) n.842G>T c.144G>T c.4339G>T (p.Asp1447Tyr) c.4024G>T (p.Asp1342Tyr) c.1921G>T (p.Asp641Tyr) c.4363G>T (p.Asp1455Tyr) c.4354G>T (p.Asp1452Tyr) c.4345G>T (p.Asp1449Tyr) c.2683G>T (p.Asp895Tyr) | |
| X | g.108687515A>C | CA413854010 | COL4A5 | c.4349A>C (p.Asp1450Ala) c.4331A>C (p.Asp1444Ala) n.843A>C c.145A>C c.4340A>C (p.Asp1447Ala) c.4025A>C (p.Asp1342Ala) c.1922A>C (p.Asp641Ala) c.4364A>C (p.Asp1455Ala) c.4355A>C (p.Asp1452Ala) c.4346A>C (p.Asp1449Ala) c.2684A>C (p.Asp895Ala) | |
| X | g.108687515A>G | CA413854008 | COL4A5 | c.4349A>G (p.Asp1450Gly) c.4331A>G (p.Asp1444Gly) n.843A>G c.145A>G c.4340A>G (p.Asp1447Gly) c.4025A>G (p.Asp1342Gly) c.1922A>G (p.Asp641Gly) c.4364A>G (p.Asp1455Gly) c.4355A>G (p.Asp1452Gly) c.4346A>G (p.Asp1449Gly) c.2684A>G (p.Asp895Gly) | |
| X | g.108687515A>T | CA413854007 | COL4A5 | c.4349A>T (p.Asp1450Val) c.4331A>T (p.Asp1444Val) n.843A>T c.145A>T c.4340A>T (p.Asp1447Val) c.4025A>T (p.Asp1342Val) c.1922A>T (p.Asp641Val) c.4364A>T (p.Asp1455Val) c.4355A>T (p.Asp1452Val) c.4346A>T (p.Asp1449Val) c.2684A>T (p.Asp895Val) | |
| X | g.108687516T>A | CA413854014 | COL4A5 | c.4350T>A (p.Asp1450Glu) c.4332T>A (p.Asp1444Glu) n.844T>A c.146T>A c.4341T>A (p.Asp1447Glu) c.4026T>A (p.Asp1342Glu) c.1923T>A (p.Asp641Glu) c.4365T>A (p.Asp1455Glu) c.4356T>A (p.Asp1452Glu) c.4347T>A (p.Asp1449Glu) c.2685T>A (p.Asp895Glu) | |
| X | g.108687516T>C | CA517924448 | COL4A5 | c.4350T>C (p.Asp1450=) c.4332T>C (p.Asp1444=) n.844T>C c.146T>C c.4341T>C (p.Asp1447=) c.4026T>C (p.Asp1342=) c.1923T>C (p.Asp641=) c.4365T>C (p.Asp1455=) c.4356T>C (p.Asp1452=) c.4347T>C (p.Asp1449=) c.2685T>C (p.Asp895=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108687516T>G | CA413854012 | COL4A5 | c.4350T>G (p.Asp1450Glu) c.4332T>G (p.Asp1444Glu) n.844T>G c.146T>G c.4341T>G (p.Asp1447Glu) c.4026T>G (p.Asp1342Glu) c.1923T>G (p.Asp641Glu) c.4365T>G (p.Asp1455Glu) c.4356T>G (p.Asp1452Glu) c.4347T>G (p.Asp1449Glu) c.2685T>G (p.Asp895Glu) | |
| X | g.108687516T= | CA2450719228 | COL4A5 | c.4350T= (p.Asp1450=) c.4332T= (p.Asp1444=) n.844T= c.146T= c.4341T= (p.Asp1447=) c.4026T= (p.Asp1342=) c.1923T= (p.Asp641=) c.4365T= (p.Asp1455=) c.4356T= (p.Asp1452=) c.4347T= (p.Asp1449=) c.2685T= (p.Asp895=) | |
| X | g.108687517G>A | CA413854017 | COL4A5 | c.4351G>A (p.Gly1451Arg) c.4333G>A (p.Gly1445Arg) n.845G>A c.147G>A c.4342G>A (p.Gly1448Arg) c.4027G>A (p.Gly1343Arg) c.1924G>A (p.Gly642Arg) c.4366G>A (p.Gly1456Arg) c.4357G>A (p.Gly1453Arg) c.4348G>A (p.Gly1450Arg) c.2686G>A (p.Gly896Arg) | |
| X | g.108687517G>C | CA413854019 | COL4A5 | c.4351G>C (p.Gly1451Arg) c.4333G>C (p.Gly1445Arg) n.845G>C c.147G>C c.4342G>C (p.Gly1448Arg) c.4027G>C (p.Gly1343Arg) c.1924G>C (p.Gly642Arg) c.4366G>C (p.Gly1456Arg) c.4357G>C (p.Gly1453Arg) c.4348G>C (p.Gly1450Arg) c.2686G>C (p.Gly896Arg) | |
| X | g.108687517G>T | CA413854020 | COL4A5 | c.4351G>T (p.Gly1451Ter) c.4333G>T (p.Gly1445Ter) n.845G>T c.147G>T c.4342G>T (p.Gly1448Ter) c.4027G>T (p.Gly1343Ter) c.1924G>T (p.Gly642Ter) c.4366G>T (p.Gly1456Ter) c.4357G>T (p.Gly1453Ter) c.4348G>T (p.Gly1450Ter) c.2686G>T (p.Gly896Ter) | |
| X | g.108687518G>A | CA413854022 | COL4A5 | c.4352G>A (p.Gly1451Glu) c.4334G>A (p.Gly1445Glu) n.846G>A c.148G>A c.4343G>A (p.Gly1448Glu) c.4028G>A (p.Gly1343Glu) c.1925G>A (p.Gly642Glu) c.4367G>A (p.Gly1456Glu) c.4358G>A (p.Gly1453Glu) c.4349G>A (p.Gly1450Glu) c.2687G>A (p.Gly896Glu) | ClinVar |
| X | g.108687518G>C | CA413854024 | COL4A5 | c.4352G>C (p.Gly1451Ala) c.4334G>C (p.Gly1445Ala) n.846G>C c.148G>C c.4343G>C (p.Gly1448Ala) c.4028G>C (p.Gly1343Ala) c.1925G>C (p.Gly642Ala) c.4367G>C (p.Gly1456Ala) c.4358G>C (p.Gly1453Ala) c.4349G>C (p.Gly1450Ala) c.2687G>C (p.Gly896Ala) | |
| X | g.108687518G>T | CA413854026 | COL4A5 | c.4352G>T (p.Gly1451Val) c.4334G>T (p.Gly1445Val) n.846G>T c.148G>T c.4343G>T (p.Gly1448Val) c.4028G>T (p.Gly1343Val) c.1925G>T (p.Gly642Val) c.4367G>T (p.Gly1456Val) c.4358G>T (p.Gly1453Val) c.4349G>T (p.Gly1450Val) c.2687G>T (p.Gly896Val) | |
| X | g.108687519A= | CA2450719234 | COL4A5 | c.4353A= (p.Gly1451=) c.4335A= (p.Gly1445=) n.847A= c.149A= c.4344A= (p.Gly1448=) c.4029A= (p.Gly1343=) c.1926A= (p.Gly642=) c.4368A= (p.Gly1456=) c.4359A= (p.Gly1453=) c.4350A= (p.Gly1450=) c.2688A= (p.Gly896=) | |
| X | g.108687519A>C | CA517924453 | COL4A5 | c.4353A>C (p.Gly1451=) c.4335A>C (p.Gly1445=) n.847A>C c.149A>C c.4344A>C (p.Gly1448=) c.4029A>C (p.Gly1343=) c.1926A>C (p.Gly642=) c.4368A>C (p.Gly1456=) c.4359A>C (p.Gly1453=) c.4350A>C (p.Gly1450=) c.2688A>C (p.Gly896=) | |
| X | g.108687519A>G | CA517924455 | COL4A5 | c.4353A>G (p.Gly1451=) c.4335A>G (p.Gly1445=) n.847A>G c.149A>G c.4344A>G (p.Gly1448=) c.4029A>G (p.Gly1343=) c.1926A>G (p.Gly642=) c.4368A>G (p.Gly1456=) c.4359A>G (p.Gly1453=) c.4350A>G (p.Gly1450=) c.2688A>G (p.Gly896=) | ClinVar gnomAD v4 |
| X | g.108687519A>T | CA10489348 | COL4A5 | c.4353A>T (p.Gly1451=) c.4335A>T (p.Gly1445=) n.847A>T c.149A>T c.4344A>T (p.Gly1448=) c.4029A>T (p.Gly1343=) c.1926A>T (p.Gly642=) c.4368A>T (p.Gly1456=) c.4359A>T (p.Gly1453=) c.4350A>T (p.Gly1450=) c.2688A>T (p.Gly896=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108687520T>A | CA413854029 | COL4A5 | c.4354T>A (p.Leu1452Met) c.4336T>A (p.Leu1446Met) n.848T>A c.150T>A c.4345T>A (p.Leu1449Met) c.4030T>A (p.Leu1344Met) c.1927T>A (p.Leu643Met) c.4369T>A (p.Leu1457Met) c.4360T>A (p.Leu1454Met) c.4351T>A (p.Leu1451Met) c.2689T>A (p.Leu897Met) | |
| X | g.108687520T>C | CA517924457 | COL4A5 | c.4354T>C (p.Leu1452=) c.4336T>C (p.Leu1446=) n.848T>C c.150T>C c.4345T>C (p.Leu1449=) c.4030T>C (p.Leu1344=) c.1927T>C (p.Leu643=) c.4369T>C (p.Leu1457=) c.4360T>C (p.Leu1454=) c.4351T>C (p.Leu1451=) c.2689T>C (p.Leu897=) | |
| X | g.108687520T>G | CA413854031 | COL4A5 | c.4354T>G (p.Leu1452Val) c.4336T>G (p.Leu1446Val) n.848T>G c.150T>G c.4345T>G (p.Leu1449Val) c.4030T>G (p.Leu1344Val) c.1927T>G (p.Leu643Val) c.4369T>G (p.Leu1457Val) c.4360T>G (p.Leu1454Val) c.4351T>G (p.Leu1451Val) c.2689T>G (p.Leu897Val) | dbSNP gnomAD v4 |