Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108686024C>A | CA2694414716 | COL4A5 | c.4217-7C>A (n.4217-7C>A) c.4199-7C>A (n.4199-7C>A) n.711-7C>A n.620-7C>A c.13-7C>A c.4208-7C>A (n.4208-7C>A) c.3893-7C>A (n.3893-7C>A) c.1790-7C>A (n.1790-7C>A) c.4232-7C>A (n.4232-7C>A) c.4223-7C>A (n.4223-7C>A) c.4214-7C>A (n.4214-7C>A) c.2552-7C>A (n.2552-7C>A) | gnomAD v4 |
X | g.108686024C= | CA2450718751 | COL4A5 | c.4217-7C= (n.4217-7C=) c.4199-7C= (n.4199-7C=) n.711-7C= n.620-7C= c.13-7C= c.4208-7C= (n.4208-7C=) c.3893-7C= (n.3893-7C=) c.1790-7C= (n.1790-7C=) c.4232-7C= (n.4232-7C=) c.4223-7C= (n.4223-7C=) c.4214-7C= (n.4214-7C=) c.2552-7C= (n.2552-7C=) | |
X | g.108686024C>T | CA643637127 | COL4A5 | c.4217-7C>T (n.4217-7C>T) c.4199-7C>T (n.4199-7C>T) n.711-7C>T n.620-7C>T c.13-7C>T c.4208-7C>T (n.4208-7C>T) c.3893-7C>T (n.3893-7C>T) c.1790-7C>T (n.1790-7C>T) c.4232-7C>T (n.4232-7C>T) c.4223-7C>T (n.4223-7C>T) c.4214-7C>T (n.4214-7C>T) c.2552-7C>T (n.2552-7C>T) | dbSNP gnomAD v2 |
X | g.108686025C= | CA2450718752 | COL4A5 | c.4217-6C= (n.4217-6C=) c.4199-6C= (n.4199-6C=) n.711-6C= n.620-6C= c.13-6C= c.4208-6C= (n.4208-6C=) c.3893-6C= (n.3893-6C=) c.1790-6C= (n.1790-6C=) c.4232-6C= (n.4232-6C=) c.4223-6C= (n.4223-6C=) c.4214-6C= (n.4214-6C=) c.2552-6C= (n.2552-6C=) | |
X | g.108686025C>G | CA2697544696 | COL4A5 | c.4217-6C>G (n.4217-6C>G) c.4199-6C>G (n.4199-6C>G) n.711-6C>G n.620-6C>G c.13-6C>G c.4208-6C>G (n.4208-6C>G) c.3893-6C>G (n.3893-6C>G) c.1790-6C>G (n.1790-6C>G) c.4232-6C>G (n.4232-6C>G) c.4223-6C>G (n.4223-6C>G) c.4214-6C>G (n.4214-6C>G) c.2552-6C>G (n.2552-6C>G) | ClinVar |
X | g.108686025C>T | CA10489323 | COL4A5 | c.4217-6C>T (n.4217-6C>T) c.4199-6C>T (n.4199-6C>T) n.711-6C>T n.620-6C>T c.13-6C>T c.4208-6C>T (n.4208-6C>T) c.3893-6C>T (n.3893-6C>T) c.1790-6C>T (n.1790-6C>T) c.4232-6C>T (n.4232-6C>T) c.4223-6C>T (n.4223-6C>T) c.4214-6C>T (n.4214-6C>T) c.2552-6C>T (n.2552-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108686026T>A | CA2555989946 | COL4A5 | c.4217-5T>A (n.4217-5T>A) c.4199-5T>A (n.4199-5T>A) n.711-5T>A n.620-5T>A c.13-5T>A c.4208-5T>A (n.4208-5T>A) c.3893-5T>A (n.3893-5T>A) c.1790-5T>A (n.1790-5T>A) c.4232-5T>A (n.4232-5T>A) c.4223-5T>A (n.4223-5T>A) c.4214-5T>A (n.4214-5T>A) c.2552-5T>A (n.2552-5T>A) | |
X | g.108686026T>C | CA2694414717 | COL4A5 | c.4217-5T>C (n.4217-5T>C) c.4199-5T>C (n.4199-5T>C) n.711-5T>C n.620-5T>C c.13-5T>C c.4208-5T>C (n.4208-5T>C) c.3893-5T>C (n.3893-5T>C) c.1790-5T>C (n.1790-5T>C) c.4232-5T>C (n.4232-5T>C) c.4223-5T>C (n.4223-5T>C) c.4214-5T>C (n.4214-5T>C) c.2552-5T>C (n.2552-5T>C) | gnomAD v4 |
X | g.108686029A>C | CA413853323 | COL4A5 | c.4217-2A>C (n.4217-2A>C) c.4199-2A>C (n.4199-2A>C) n.711-2A>C n.620-2A>C c.13-2A>C c.4208-2A>C (n.4208-2A>C) c.3893-2A>C (n.3893-2A>C) c.1790-2A>C (n.1790-2A>C) c.4232-2A>C (n.4232-2A>C) c.4223-2A>C (n.4223-2A>C) c.4214-2A>C (n.4214-2A>C) c.2552-2A>C (n.2552-2A>C) | |
X | g.108686029A>G | CA413853320 | COL4A5 | c.4217-2A>G (n.4217-2A>G) c.4199-2A>G (n.4199-2A>G) n.711-2A>G n.620-2A>G c.13-2A>G c.4208-2A>G (n.4208-2A>G) c.3893-2A>G (n.3893-2A>G) c.1790-2A>G (n.1790-2A>G) c.4232-2A>G (n.4232-2A>G) c.4223-2A>G (n.4223-2A>G) c.4214-2A>G (n.4214-2A>G) c.2552-2A>G (n.2552-2A>G) | gnomAD v4 |
X | g.108686029A>T | CA413853321 | COL4A5 | c.4217-2A>T (n.4217-2A>T) c.4199-2A>T (n.4199-2A>T) n.711-2A>T n.620-2A>T c.13-2A>T c.4208-2A>T (n.4208-2A>T) c.3893-2A>T (n.3893-2A>T) c.1790-2A>T (n.1790-2A>T) c.4232-2A>T (n.4232-2A>T) c.4223-2A>T (n.4223-2A>T) c.4214-2A>T (n.4214-2A>T) c.2552-2A>T (n.2552-2A>T) | |
X | g.108686029_108686030del | CA2579677123 | COL4A5 | c.4217-2_4217-1del (n.4217-2_4217-1del) c.4199-2_4199-1del (n.4199-2_4199-1del) n.711-2_711-1del n.620-2_620-1del c.13-2_13-1del c.4208-2_4208-1del (n.4208-2_4208-1del) c.3893-2_3893-1del (n.3893-2_3893-1del) c.1790-2_1790-1del (n.1790-2_1790-1del) c.4232-2_4232-1del (n.4232-2_4232-1del) c.4223-2_4223-1del (n.4223-2_4223-1del) c.4214-2_4214-1del (n.4214-2_4214-1del) c.2552-2_2552-1del (n.2552-2_2552-1del) | |
X | g.108686029_108686037del | CA2573017371 | COL4A5 | c.4217-2_4223del c.4199-2_4205del n.711-2_717del n.620-2_626del c.13-2_19del c.4208-2_4214del c.3893-2_3899del c.1790-2_1796del c.4232-2_4238del c.4223-2_4229del c.4214-2_4220del c.2552-2_2558del | |
X | g.108686030G>A | CA259003 | COL4A5 | c.4217-1G>A (n.4217-1G>A) c.4199-1G>A (n.4199-1G>A) n.711-1G>A n.620-1G>A c.13-1G>A c.4208-1G>A (n.4208-1G>A) c.3893-1G>A (n.3893-1G>A) c.1790-1G>A (n.1790-1G>A) c.4232-1G>A (n.4232-1G>A) c.4223-1G>A (n.4223-1G>A) c.4214-1G>A (n.4214-1G>A) c.2552-1G>A (n.2552-1G>A) | ClinVar dbSNP |
X | g.108686030G>C | CA413853326 | COL4A5 | c.4217-1G>C (n.4217-1G>C) c.4199-1G>C (n.4199-1G>C) n.711-1G>C n.620-1G>C c.13-1G>C c.4208-1G>C (n.4208-1G>C) c.3893-1G>C (n.3893-1G>C) c.1790-1G>C (n.1790-1G>C) c.4232-1G>C (n.4232-1G>C) c.4223-1G>C (n.4223-1G>C) c.4214-1G>C (n.4214-1G>C) c.2552-1G>C (n.2552-1G>C) | |
X | g.108686030G= | CA2450718753 | COL4A5 | c.4217-1G= (n.4217-1G=) c.4199-1G= (n.4199-1G=) n.711-1G= n.620-1G= c.13-1G= c.4208-1G= (n.4208-1G=) c.3893-1G= (n.3893-1G=) c.1790-1G= (n.1790-1G=) c.4232-1G= (n.4232-1G=) c.4223-1G= (n.4223-1G=) c.4214-1G= (n.4214-1G=) c.2552-1G= (n.2552-1G=) | |
X | g.108686030G>T | CA413853328 | COL4A5 | c.4217-1G>T (n.4217-1G>T) c.4199-1G>T (n.4199-1G>T) n.711-1G>T n.620-1G>T c.13-1G>T c.4208-1G>T (n.4208-1G>T) c.3893-1G>T (n.3893-1G>T) c.1790-1G>T (n.1790-1G>T) c.4232-1G>T (n.4232-1G>T) c.4223-1G>T (n.4223-1G>T) c.4214-1G>T (n.4214-1G>T) c.2552-1G>T (n.2552-1G>T) | |
X | g.108686031del | CA2579677124 | COL4A5 | c.4217del c.4199del n.711del n.620del c.13del c.4208del c.3893del c.1790del c.4232del c.4223del c.4214del c.2552del | |
X | g.108686031G>A | CA413853329 | COL4A5 | c.4217G>A (p.Gly1406Asp) c.4199G>A (p.Gly1400Asp) n.711G>A n.620G>A c.13G>A c.4208G>A (p.Gly1403Asp) c.3893G>A (p.Gly1298Asp) c.1790G>A (p.Gly597Asp) c.4232G>A (p.Gly1411Asp) c.4223G>A (p.Gly1408Asp) c.4214G>A (p.Gly1405Asp) c.2552G>A (p.Gly851Asp) | |
X | g.108686031G>C | CA413853340 | COL4A5 | c.4217G>C (p.Gly1406Ala) c.4199G>C (p.Gly1400Ala) n.711G>C n.620G>C c.13G>C c.4208G>C (p.Gly1403Ala) c.3893G>C (p.Gly1298Ala) c.1790G>C (p.Gly597Ala) c.4232G>C (p.Gly1411Ala) c.4223G>C (p.Gly1408Ala) c.4214G>C (p.Gly1405Ala) c.2552G>C (p.Gly851Ala) | |
X | g.108686031G>T | CA413853342 | COL4A5 | c.4217G>T (p.Gly1406Val) c.4199G>T (p.Gly1400Val) n.711G>T n.620G>T c.13G>T c.4208G>T (p.Gly1403Val) c.3893G>T (p.Gly1298Val) c.1790G>T (p.Gly597Val) c.4232G>T (p.Gly1411Val) c.4223G>T (p.Gly1408Val) c.4214G>T (p.Gly1405Val) c.2552G>T (p.Gly851Val) | |
X | g.108686032T>A | CA517924008 | COL4A5 | c.4218T>A (p.Gly1406=) c.4200T>A (p.Gly1400=) n.712T>A n.621T>A c.14T>A c.4209T>A (p.Gly1403=) c.3894T>A (p.Gly1298=) c.1791T>A (p.Gly597=) c.4233T>A (p.Gly1411=) c.4224T>A (p.Gly1408=) c.4215T>A (p.Gly1405=) c.2553T>A (p.Gly851=) | |
X | g.108686032T>C | CA517924010 | COL4A5 | c.4218T>C (p.Gly1406=) c.4200T>C (p.Gly1400=) n.712T>C n.621T>C c.14T>C c.4209T>C (p.Gly1403=) c.3894T>C (p.Gly1298=) c.1791T>C (p.Gly597=) c.4233T>C (p.Gly1411=) c.4224T>C (p.Gly1408=) c.4215T>C (p.Gly1405=) c.2553T>C (p.Gly851=) | |
X | g.108686032T>G | CA517924012 | COL4A5 | c.4218T>G (p.Gly1406=) c.4200T>G (p.Gly1400=) n.712T>G n.621T>G c.14T>G c.4209T>G (p.Gly1403=) c.3894T>G (p.Gly1298=) c.1791T>G (p.Gly597=) c.4233T>G (p.Gly1411=) c.4224T>G (p.Gly1408=) c.4215T>G (p.Gly1405=) c.2553T>G (p.Gly851=) | |
X | g.108686033C>A | CA413853345 | COL4A5 | c.4219C>A (p.Pro1407Thr) c.4201C>A (p.Pro1401Thr) n.713C>A n.622C>A c.15C>A c.4210C>A (p.Pro1404Thr) c.3895C>A (p.Pro1299Thr) c.1792C>A (p.Pro598Thr) c.4234C>A (p.Pro1412Thr) c.4225C>A (p.Pro1409Thr) c.4216C>A (p.Pro1406Thr) c.2554C>A (p.Pro852Thr) | |
X | g.108686033C>G | CA413853346 | COL4A5 | c.4219C>G (p.Pro1407Ala) c.4201C>G (p.Pro1401Ala) n.713C>G n.622C>G c.15C>G c.4210C>G (p.Pro1404Ala) c.3895C>G (p.Pro1299Ala) c.1792C>G (p.Pro598Ala) c.4234C>G (p.Pro1412Ala) c.4225C>G (p.Pro1409Ala) c.4216C>G (p.Pro1406Ala) c.2554C>G (p.Pro852Ala) | |
X | g.108686033C>T | CA413853349 | COL4A5 | c.4219C>T (p.Pro1407Ser) c.4201C>T (p.Pro1401Ser) n.713C>T n.622C>T c.15C>T c.4210C>T (p.Pro1404Ser) c.3895C>T (p.Pro1299Ser) c.1792C>T (p.Pro598Ser) c.4234C>T (p.Pro1412Ser) c.4225C>T (p.Pro1409Ser) c.4216C>T (p.Pro1406Ser) c.2554C>T (p.Pro852Ser) | |
X | g.108686034del | CA2580612456 | COL4A5 | c.4220del (p.Pro1407GlnfsTer?) c.4202del (p.Pro1401GlnfsTer?) n.714del n.623del c.16del c.4211del (p.Pro1404GlnfsTer?) c.3896del (p.Pro1299GlnfsTer?) c.1793del (p.Pro598GlnfsTer?) c.4235del (p.Pro1412GlnfsTer?) c.4226del (p.Pro1409GlnfsTer?) c.4217del (p.Pro1406GlnfsTer?) c.2555del (p.Pro852GlnfsTer?) | ClinVar |
X | g.108686034C>A | CA413853356 | COL4A5 | c.4220C>A (p.Pro1407Gln) c.4202C>A (p.Pro1401Gln) n.714C>A n.623C>A c.16C>A c.4211C>A (p.Pro1404Gln) c.3896C>A (p.Pro1299Gln) c.1793C>A (p.Pro598Gln) c.4235C>A (p.Pro1412Gln) c.4226C>A (p.Pro1409Gln) c.4217C>A (p.Pro1406Gln) c.2555C>A (p.Pro852Gln) | |
X | g.108686034C>G | CA413853354 | COL4A5 | c.4220C>G (p.Pro1407Arg) c.4202C>G (p.Pro1401Arg) n.714C>G n.623C>G c.16C>G c.4211C>G (p.Pro1404Arg) c.3896C>G (p.Pro1299Arg) c.1793C>G (p.Pro598Arg) c.4235C>G (p.Pro1412Arg) c.4226C>G (p.Pro1409Arg) c.4217C>G (p.Pro1406Arg) c.2555C>G (p.Pro852Arg) | |
X | g.108686034C>T | CA413853352 | COL4A5 | c.4220C>T (p.Pro1407Leu) c.4202C>T (p.Pro1401Leu) n.714C>T n.623C>T c.16C>T c.4211C>T (p.Pro1404Leu) c.3896C>T (p.Pro1299Leu) c.1793C>T (p.Pro598Leu) c.4235C>T (p.Pro1412Leu) c.4226C>T (p.Pro1409Leu) c.4217C>T (p.Pro1406Leu) c.2555C>T (p.Pro852Leu) | |
X | g.108686034_108686035delinsCA | CA2450718754 | COL4A5 | c.4220_4221delinsCA (p.Pro1407=) c.4202_4203delinsCA (p.Pro1401=) n.714_715delinsCA n.623_624delinsCA c.16_17delinsCA c.4211_4212delinsCA (p.Pro1404=) c.3896_3897delinsCA (p.Pro1299=) c.1793_1794delinsCA (p.Pro598=) c.4235_4236delinsCA (p.Pro1412=) c.4226_4227delinsCA (p.Pro1409=) c.4217_4218delinsCA (p.Pro1406=) c.2555_2556delinsCA (p.Pro852=) | |
X | g.108686035A>C | CA517924016 | COL4A5 | c.4221A>C (p.Pro1407=) c.4203A>C (p.Pro1401=) n.715A>C n.624A>C c.17A>C c.4212A>C (p.Pro1404=) c.3897A>C (p.Pro1299=) c.1794A>C (p.Pro598=) c.4236A>C (p.Pro1412=) c.4227A>C (p.Pro1409=) c.4218A>C (p.Pro1406=) c.2556A>C (p.Pro852=) | |
X | g.108686035A>G | CA517924014 | COL4A5 | c.4221A>G (p.Pro1407=) c.4203A>G (p.Pro1401=) n.715A>G n.624A>G c.17A>G c.4212A>G (p.Pro1404=) c.3897A>G (p.Pro1299=) c.1794A>G (p.Pro598=) c.4236A>G (p.Pro1412=) c.4227A>G (p.Pro1409=) c.4218A>G (p.Pro1406=) c.2556A>G (p.Pro852=) | |
X | g.108686035A>T | CA517924018 | COL4A5 | c.4221A>T (p.Pro1407=) c.4203A>T (p.Pro1401=) n.715A>T n.624A>T c.17A>T c.4212A>T (p.Pro1404=) c.3897A>T (p.Pro1299=) c.1794A>T (p.Pro598=) c.4236A>T (p.Pro1412=) c.4227A>T (p.Pro1409=) c.4218A>T (p.Pro1406=) c.2556A>T (p.Pro852=) | |
X | g.108686036del | CA916083993 | COL4A5 | c.4222del (p.Thr1408LeufsTer?) c.4204del (p.Thr1402LeufsTer?) n.716del n.625del c.18del c.4213del (p.Thr1405LeufsTer?) c.3898del (p.Thr1300LeufsTer?) c.1795del (p.Thr599LeufsTer?) c.4237del (p.Thr1413LeufsTer?) c.4228del (p.Thr1410LeufsTer?) c.4219del (p.Thr1407LeufsTer?) c.2557del (p.Thr853LeufsTer?) | ClinVar dbSNP |
X | g.108686036A>C | CA413853359 | COL4A5 | c.4222A>C (p.Thr1408Pro) c.4204A>C (p.Thr1402Pro) n.716A>C n.625A>C c.18A>C c.4213A>C (p.Thr1405Pro) c.3898A>C (p.Thr1300Pro) c.1795A>C (p.Thr599Pro) c.4237A>C (p.Thr1413Pro) c.4228A>C (p.Thr1410Pro) c.4219A>C (p.Thr1407Pro) c.2557A>C (p.Thr853Pro) | |
X | g.108686036A>G | CA413853362 | COL4A5 | c.4222A>G (p.Thr1408Ala) c.4204A>G (p.Thr1402Ala) n.716A>G n.625A>G c.18A>G c.4213A>G (p.Thr1405Ala) c.3898A>G (p.Thr1300Ala) c.1795A>G (p.Thr599Ala) c.4237A>G (p.Thr1413Ala) c.4228A>G (p.Thr1410Ala) c.4219A>G (p.Thr1407Ala) c.2557A>G (p.Thr853Ala) | gnomAD v4 |
X | g.108686036A>T | CA413853364 | COL4A5 | c.4222A>T (p.Thr1408Ser) c.4204A>T (p.Thr1402Ser) n.716A>T n.625A>T c.18A>T c.4213A>T (p.Thr1405Ser) c.3898A>T (p.Thr1300Ser) c.1795A>T (p.Thr599Ser) c.4237A>T (p.Thr1413Ser) c.4228A>T (p.Thr1410Ser) c.4219A>T (p.Thr1407Ser) c.2557A>T (p.Thr853Ser) | |
X | g.108686037C>A | CA413853365 | COL4A5 | c.4223C>A (p.Thr1408Asn) c.4205C>A (p.Thr1402Asn) n.717C>A n.626C>A c.19C>A c.4214C>A (p.Thr1405Asn) c.3899C>A (p.Thr1300Asn) c.1796C>A (p.Thr599Asn) c.4238C>A (p.Thr1413Asn) c.4229C>A (p.Thr1410Asn) c.4220C>A (p.Thr1407Asn) c.2558C>A (p.Thr853Asn) | |
X | g.108686037C= | CA2450718755 | COL4A5 | c.4223C= (p.Thr1408=) c.4205C= (p.Thr1402=) n.717C= n.626C= c.19C= c.4214C= (p.Thr1405=) c.3899C= (p.Thr1300=) c.1796C= (p.Thr599=) c.4238C= (p.Thr1413=) c.4229C= (p.Thr1410=) c.4220C= (p.Thr1407=) c.2558C= (p.Thr853=) | |
X | g.108686037C>G | CA10489324 | COL4A5 | c.4223C>G (p.Thr1408Ser) c.4205C>G (p.Thr1402Ser) n.717C>G n.626C>G c.19C>G c.4214C>G (p.Thr1405Ser) c.3899C>G (p.Thr1300Ser) c.1796C>G (p.Thr599Ser) c.4238C>G (p.Thr1413Ser) c.4229C>G (p.Thr1410Ser) c.4220C>G (p.Thr1407Ser) c.2558C>G (p.Thr853Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686037C>T | CA413853366 | COL4A5 | c.4223C>T (p.Thr1408Ile) c.4205C>T (p.Thr1402Ile) n.717C>T n.626C>T c.19C>T c.4214C>T (p.Thr1405Ile) c.3899C>T (p.Thr1300Ile) c.1796C>T (p.Thr599Ile) c.4238C>T (p.Thr1413Ile) c.4229C>T (p.Thr1410Ile) c.4220C>T (p.Thr1407Ile) c.2558C>T (p.Thr853Ile) | |
X | g.108686038T>A | CA517924022 | COL4A5 | c.4224T>A (p.Thr1408=) c.4206T>A (p.Thr1402=) n.718T>A n.627T>A c.20T>A c.4215T>A (p.Thr1405=) c.3900T>A (p.Thr1300=) c.1797T>A (p.Thr599=) c.4239T>A (p.Thr1413=) c.4230T>A (p.Thr1410=) c.4221T>A (p.Thr1407=) c.2559T>A (p.Thr853=) | |
X | g.108686038T>C | CA517924024 | COL4A5 | c.4224T>C (p.Thr1408=) c.4206T>C (p.Thr1402=) n.718T>C n.627T>C c.20T>C c.4215T>C (p.Thr1405=) c.3900T>C (p.Thr1300=) c.1797T>C (p.Thr599=) c.4239T>C (p.Thr1413=) c.4230T>C (p.Thr1410=) c.4221T>C (p.Thr1407=) c.2559T>C (p.Thr853=) | gnomAD v4 |
X | g.108686038T>G | CA517924023 | COL4A5 | c.4224T>G (p.Thr1408=) c.4206T>G (p.Thr1402=) n.718T>G n.627T>G c.20T>G c.4215T>G (p.Thr1405=) c.3900T>G (p.Thr1300=) c.1797T>G (p.Thr599=) c.4239T>G (p.Thr1413=) c.4230T>G (p.Thr1410=) c.4221T>G (p.Thr1407=) c.2559T>G (p.Thr853=) | |
X | g.108686039G>A | CA413853367 | COL4A5 | c.4225G>A (p.Gly1409Ser) c.4207G>A (p.Gly1403Ser) n.719G>A n.628G>A c.21G>A c.4216G>A (p.Gly1406Ser) c.3901G>A (p.Gly1301Ser) c.1798G>A (p.Gly600Ser) c.4240G>A (p.Gly1414Ser) c.4231G>A (p.Gly1411Ser) c.4222G>A (p.Gly1408Ser) c.2560G>A (p.Gly854Ser) | |
X | g.108686039G>C | CA413853368 | COL4A5 | c.4225G>C (p.Gly1409Arg) c.4207G>C (p.Gly1403Arg) n.719G>C n.628G>C c.21G>C c.4216G>C (p.Gly1406Arg) c.3901G>C (p.Gly1301Arg) c.1798G>C (p.Gly600Arg) c.4240G>C (p.Gly1414Arg) c.4231G>C (p.Gly1411Arg) c.4222G>C (p.Gly1408Arg) c.2560G>C (p.Gly854Arg) | |
X | g.108686039G>T | CA413853371 | COL4A5 | c.4225G>T (p.Gly1409Cys) c.4207G>T (p.Gly1403Cys) n.719G>T n.628G>T c.21G>T c.4216G>T (p.Gly1406Cys) c.3901G>T (p.Gly1301Cys) c.1798G>T (p.Gly600Cys) c.4240G>T (p.Gly1414Cys) c.4231G>T (p.Gly1411Cys) c.4222G>T (p.Gly1408Cys) c.2560G>T (p.Gly854Cys) | |
X | g.108686040G>A | CA413853373 | COL4A5 | c.4226G>A (p.Gly1409Asp) c.4208G>A (p.Gly1403Asp) n.720G>A n.629G>A c.22G>A c.4217G>A (p.Gly1406Asp) c.3902G>A (p.Gly1301Asp) c.1799G>A (p.Gly600Asp) c.4241G>A (p.Gly1414Asp) c.4232G>A (p.Gly1411Asp) c.4223G>A (p.Gly1408Asp) c.2561G>A (p.Gly854Asp) | gnomAD v4 |
X | g.108686040G>C | CA413853375 | COL4A5 | c.4226G>C (p.Gly1409Ala) c.4208G>C (p.Gly1403Ala) n.720G>C n.629G>C c.22G>C c.4217G>C (p.Gly1406Ala) c.3902G>C (p.Gly1301Ala) c.1799G>C (p.Gly600Ala) c.4241G>C (p.Gly1414Ala) c.4232G>C (p.Gly1411Ala) c.4223G>C (p.Gly1408Ala) c.2561G>C (p.Gly854Ala) | |
X | g.108686040G>T | CA413853381 | COL4A5 | c.4226G>T (p.Gly1409Val) c.4208G>T (p.Gly1403Val) n.720G>T n.629G>T c.22G>T c.4217G>T (p.Gly1406Val) c.3902G>T (p.Gly1301Val) c.1799G>T (p.Gly600Val) c.4241G>T (p.Gly1414Val) c.4232G>T (p.Gly1411Val) c.4223G>T (p.Gly1408Val) c.2561G>T (p.Gly854Val) | |
X | g.108686041C>A | CA517924034 | COL4A5 | c.4227C>A (p.Gly1409=) c.4209C>A (p.Gly1403=) n.721C>A n.630C>A c.23C>A c.4218C>A (p.Gly1406=) c.3903C>A (p.Gly1301=) c.1800C>A (p.Gly600=) c.4242C>A (p.Gly1414=) c.4233C>A (p.Gly1411=) c.4224C>A (p.Gly1408=) c.2562C>A (p.Gly854=) | |
X | g.108686041C>G | CA517924035 | COL4A5 | c.4227C>G (p.Gly1409=) c.4209C>G (p.Gly1403=) n.721C>G n.630C>G c.23C>G c.4218C>G (p.Gly1406=) c.3903C>G (p.Gly1301=) c.1800C>G (p.Gly600=) c.4242C>G (p.Gly1414=) c.4233C>G (p.Gly1411=) c.4224C>G (p.Gly1408=) c.2562C>G (p.Gly854=) | |
X | g.108686041C>T | CA517924036 | COL4A5 | c.4227C>T (p.Gly1409=) c.4209C>T (p.Gly1403=) n.721C>T n.630C>T c.23C>T c.4218C>T (p.Gly1406=) c.3903C>T (p.Gly1301=) c.1800C>T (p.Gly600=) c.4242C>T (p.Gly1414=) c.4233C>T (p.Gly1411=) c.4224C>T (p.Gly1408=) c.2562C>T (p.Gly854=) | gnomAD v4 |
X | g.108686042C>A | CA413853390 | COL4A5 | c.4228C>A (p.Pro1410Thr) c.4210C>A (p.Pro1404Thr) n.722C>A n.631C>A c.24C>A c.4219C>A (p.Pro1407Thr) c.3904C>A (p.Pro1302Thr) c.1801C>A (p.Pro601Thr) c.4243C>A (p.Pro1415Thr) c.4234C>A (p.Pro1412Thr) c.4225C>A (p.Pro1409Thr) c.2563C>A (p.Pro855Thr) | |
X | g.108686042C>G | CA413853393 | COL4A5 | c.4228C>G (p.Pro1410Ala) c.4210C>G (p.Pro1404Ala) n.722C>G n.631C>G c.24C>G c.4219C>G (p.Pro1407Ala) c.3904C>G (p.Pro1302Ala) c.1801C>G (p.Pro601Ala) c.4243C>G (p.Pro1415Ala) c.4234C>G (p.Pro1412Ala) c.4225C>G (p.Pro1409Ala) c.2563C>G (p.Pro855Ala) | |
X | g.108686042C>T | CA413853384 | COL4A5 | c.4228C>T (p.Pro1410Ser) c.4210C>T (p.Pro1404Ser) n.722C>T n.631C>T c.24C>T c.4219C>T (p.Pro1407Ser) c.3904C>T (p.Pro1302Ser) c.1801C>T (p.Pro601Ser) c.4243C>T (p.Pro1415Ser) c.4234C>T (p.Pro1412Ser) c.4225C>T (p.Pro1409Ser) c.2563C>T (p.Pro855Ser) | ClinVar gnomAD v4 |
X | g.108686043C>A | CA413853398 | COL4A5 | c.4229C>A (p.Pro1410His) c.4211C>A (p.Pro1404His) n.723C>A n.632C>A c.25C>A c.4220C>A (p.Pro1407His) c.3905C>A (p.Pro1302His) c.1802C>A (p.Pro601His) c.4244C>A (p.Pro1415His) c.4235C>A (p.Pro1412His) c.4226C>A (p.Pro1409His) c.2564C>A (p.Pro855His) | |
X | g.108686043C>G | CA413853400 | COL4A5 | c.4229C>G (p.Pro1410Arg) c.4211C>G (p.Pro1404Arg) n.723C>G n.632C>G c.25C>G c.4220C>G (p.Pro1407Arg) c.3905C>G (p.Pro1302Arg) c.1802C>G (p.Pro601Arg) c.4244C>G (p.Pro1415Arg) c.4235C>G (p.Pro1412Arg) c.4226C>G (p.Pro1409Arg) c.2564C>G (p.Pro855Arg) | |
X | g.108686043C>T | CA413853404 | COL4A5 | c.4229C>T (p.Pro1410Leu) c.4211C>T (p.Pro1404Leu) n.723C>T n.632C>T c.25C>T c.4220C>T (p.Pro1407Leu) c.3905C>T (p.Pro1302Leu) c.1802C>T (p.Pro601Leu) c.4244C>T (p.Pro1415Leu) c.4235C>T (p.Pro1412Leu) c.4226C>T (p.Pro1409Leu) c.2564C>T (p.Pro855Leu) | |
X | g.108686044T>A | CA517924039 | COL4A5 | c.4230T>A (p.Pro1410=) c.4212T>A (p.Pro1404=) n.724T>A n.633T>A c.26T>A c.4221T>A (p.Pro1407=) c.3906T>A (p.Pro1302=) c.1803T>A (p.Pro601=) c.4245T>A (p.Pro1415=) c.4236T>A (p.Pro1412=) c.4227T>A (p.Pro1409=) c.2565T>A (p.Pro855=) | |
X | g.108686044T>C | CA517924040 | COL4A5 | c.4230T>C (p.Pro1410=) c.4212T>C (p.Pro1404=) n.724T>C n.633T>C c.26T>C c.4221T>C (p.Pro1407=) c.3906T>C (p.Pro1302=) c.1803T>C (p.Pro601=) c.4245T>C (p.Pro1415=) c.4236T>C (p.Pro1412=) c.4227T>C (p.Pro1409=) c.2565T>C (p.Pro855=) | |
X | g.108686044T>G | CA517924041 | COL4A5 | c.4230T>G (p.Pro1410=) c.4212T>G (p.Pro1404=) n.724T>G n.633T>G c.26T>G c.4221T>G (p.Pro1407=) c.3906T>G (p.Pro1302=) c.1803T>G (p.Pro601=) c.4245T>G (p.Pro1415=) c.4236T>G (p.Pro1412=) c.4227T>G (p.Pro1409=) c.2565T>G (p.Pro855=) | |
X | g.108686044T= | CA2450718756 | COL4A5 | c.4230T= (p.Pro1410=) c.4212T= (p.Pro1404=) n.724T= n.633T= c.26T= c.4221T= (p.Pro1407=) c.3906T= (p.Pro1302=) c.1803T= (p.Pro601=) c.4245T= (p.Pro1415=) c.4236T= (p.Pro1412=) c.4227T= (p.Pro1409=) c.2565T= (p.Pro855=) | |
X | g.108686045C>A | CA413853408 | COL4A5 | c.4231C>A (p.Pro1411Thr) c.4213C>A (p.Pro1405Thr) n.725C>A n.634C>A c.27C>A c.4222C>A (p.Pro1408Thr) c.3907C>A (p.Pro1303Thr) c.1804C>A (p.Pro602Thr) c.4246C>A (p.Pro1416Thr) c.4237C>A (p.Pro1413Thr) c.4228C>A (p.Pro1410Thr) c.2566C>A (p.Pro856Thr) | |
X | g.108686045C>G | CA413853412 | COL4A5 | c.4231C>G (p.Pro1411Ala) c.4213C>G (p.Pro1405Ala) n.725C>G n.634C>G c.27C>G c.4222C>G (p.Pro1408Ala) c.3907C>G (p.Pro1303Ala) c.1804C>G (p.Pro602Ala) c.4246C>G (p.Pro1416Ala) c.4237C>G (p.Pro1413Ala) c.4228C>G (p.Pro1410Ala) c.2566C>G (p.Pro856Ala) | |
X | g.108686045C>T | CA413853417 | COL4A5 | c.4231C>T (p.Pro1411Ser) c.4213C>T (p.Pro1405Ser) n.725C>T n.634C>T c.27C>T c.4222C>T (p.Pro1408Ser) c.3907C>T (p.Pro1303Ser) c.1804C>T (p.Pro602Ser) c.4246C>T (p.Pro1416Ser) c.4237C>T (p.Pro1413Ser) c.4228C>T (p.Pro1410Ser) c.2566C>T (p.Pro856Ser) | |
X | g.108686046dup | CA259004 | COL4A5 | c.4232dup (p.Gly1412ArgfsTer12) c.4214dup (p.Gly1406ArgfsTer12) n.726dup n.635dup c.28dup c.4223dup (p.Gly1409ArgfsTer12) c.3908dup (p.Gly1304ArgfsTer12) c.1805dup (p.Gly603ArgfsTer12) c.4247dup (p.Gly1417ArgfsTer12) c.4238dup (p.Gly1414ArgfsTer12) c.4229dup (p.Gly1411ArgfsTer12) c.2567dup (p.Gly857ArgfsTer12) | dbSNP |
X | g.108686046C>A | CA413853429 | COL4A5 | c.4232C>A (p.Pro1411Gln) c.4214C>A (p.Pro1405Gln) n.726C>A n.635C>A c.28C>A c.4223C>A (p.Pro1408Gln) c.3908C>A (p.Pro1303Gln) c.1805C>A (p.Pro602Gln) c.4247C>A (p.Pro1416Gln) c.4238C>A (p.Pro1413Gln) c.4229C>A (p.Pro1410Gln) c.2567C>A (p.Pro856Gln) | |
X | g.108686046C>G | CA413853432 | COL4A5 | c.4232C>G (p.Pro1411Arg) c.4214C>G (p.Pro1405Arg) n.726C>G n.635C>G c.28C>G c.4223C>G (p.Pro1408Arg) c.3908C>G (p.Pro1303Arg) c.1805C>G (p.Pro602Arg) c.4247C>G (p.Pro1416Arg) c.4238C>G (p.Pro1413Arg) c.4229C>G (p.Pro1410Arg) c.2567C>G (p.Pro856Arg) | |
X | g.108686046C>T | CA413853434 | COL4A5 | c.4232C>T (p.Pro1411Leu) c.4214C>T (p.Pro1405Leu) n.726C>T n.635C>T c.28C>T c.4223C>T (p.Pro1408Leu) c.3908C>T (p.Pro1303Leu) c.1805C>T (p.Pro602Leu) c.4247C>T (p.Pro1416Leu) c.4238C>T (p.Pro1413Leu) c.4229C>T (p.Pro1410Leu) c.2567C>T (p.Pro856Leu) | ClinVar dbSNP |
X | g.108686047A>C | CA517924047 | COL4A5 | c.4233A>C (p.Pro1411=) c.4215A>C (p.Pro1405=) n.727A>C n.636A>C c.29A>C c.4224A>C (p.Pro1408=) c.3909A>C (p.Pro1303=) c.1806A>C (p.Pro602=) c.4248A>C (p.Pro1416=) c.4239A>C (p.Pro1413=) c.4230A>C (p.Pro1410=) c.2568A>C (p.Pro856=) | |
X | g.108686047A>G | CA517924048 | COL4A5 | c.4233A>G (p.Pro1411=) c.4215A>G (p.Pro1405=) n.727A>G n.636A>G c.29A>G c.4224A>G (p.Pro1408=) c.3909A>G (p.Pro1303=) c.1806A>G (p.Pro602=) c.4248A>G (p.Pro1416=) c.4239A>G (p.Pro1413=) c.4230A>G (p.Pro1410=) c.2568A>G (p.Pro856=) | |
X | g.108686047A>T | CA517924046 | COL4A5 | c.4233A>T (p.Pro1411=) c.4215A>T (p.Pro1405=) n.727A>T n.636A>T c.29A>T c.4224A>T (p.Pro1408=) c.3909A>T (p.Pro1303=) c.1806A>T (p.Pro602=) c.4248A>T (p.Pro1416=) c.4239A>T (p.Pro1413=) c.4230A>T (p.Pro1410=) c.2568A>T (p.Pro856=) | |
X | g.108686048G>A | CA413853438 | COL4A5 | c.4234G>A (p.Gly1412Arg) c.4216G>A (p.Gly1406Arg) n.728G>A n.637G>A c.30G>A c.4225G>A (p.Gly1409Arg) c.3910G>A (p.Gly1304Arg) c.1807G>A (p.Gly603Arg) c.4249G>A (p.Gly1417Arg) c.4240G>A (p.Gly1414Arg) c.4231G>A (p.Gly1411Arg) c.2569G>A (p.Gly857Arg) | |
X | g.108686048G>C | CA413853440 | COL4A5 | c.4234G>C (p.Gly1412Arg) c.4216G>C (p.Gly1406Arg) n.728G>C n.637G>C c.30G>C c.4225G>C (p.Gly1409Arg) c.3910G>C (p.Gly1304Arg) c.1807G>C (p.Gly603Arg) c.4249G>C (p.Gly1417Arg) c.4240G>C (p.Gly1414Arg) c.4231G>C (p.Gly1411Arg) c.2569G>C (p.Gly857Arg) | |
X | g.108686048G>T | CA413853442 | COL4A5 | c.4234G>T (p.Gly1412Ter) c.4216G>T (p.Gly1406Ter) n.728G>T n.637G>T c.30G>T c.4225G>T (p.Gly1409Ter) c.3910G>T (p.Gly1304Ter) c.1807G>T (p.Gly603Ter) c.4249G>T (p.Gly1417Ter) c.4240G>T (p.Gly1414Ter) c.4231G>T (p.Gly1411Ter) c.2569G>T (p.Gly857Ter) | |
X | g.108686049G>A | CA413853447 | COL4A5 | c.4235G>A (p.Gly1412Glu) c.4217G>A (p.Gly1406Glu) n.729G>A n.638G>A c.31G>A c.4226G>A (p.Gly1409Glu) c.3911G>A (p.Gly1304Glu) c.1808G>A (p.Gly603Glu) c.4250G>A (p.Gly1417Glu) c.4241G>A (p.Gly1414Glu) c.4232G>A (p.Gly1411Glu) c.2570G>A (p.Gly857Glu) | |
X | g.108686049G>C | CA413853450 | COL4A5 | c.4235G>C (p.Gly1412Ala) c.4217G>C (p.Gly1406Ala) n.729G>C n.638G>C c.31G>C c.4226G>C (p.Gly1409Ala) c.3911G>C (p.Gly1304Ala) c.1808G>C (p.Gly603Ala) c.4250G>C (p.Gly1417Ala) c.4241G>C (p.Gly1414Ala) c.4232G>C (p.Gly1411Ala) c.2570G>C (p.Gly857Ala) | |
X | g.108686049G>T | CA413853445 | COL4A5 | c.4235G>T (p.Gly1412Val) c.4217G>T (p.Gly1406Val) n.729G>T n.638G>T c.31G>T c.4226G>T (p.Gly1409Val) c.3911G>T (p.Gly1304Val) c.1808G>T (p.Gly603Val) c.4250G>T (p.Gly1417Val) c.4241G>T (p.Gly1414Val) c.4232G>T (p.Gly1411Val) c.2570G>T (p.Gly857Val) | |
X | g.108686050A>C | CA517924054 | COL4A5 | c.4236A>C (p.Gly1412=) c.4218A>C (p.Gly1406=) n.730A>C n.639A>C c.32A>C c.4227A>C (p.Gly1409=) c.3912A>C (p.Gly1304=) c.1809A>C (p.Gly603=) c.4251A>C (p.Gly1417=) c.4242A>C (p.Gly1414=) c.4233A>C (p.Gly1411=) c.2571A>C (p.Gly857=) | |
X | g.108686050A>G | CA517924055 | COL4A5 | c.4236A>G (p.Gly1412=) c.4218A>G (p.Gly1406=) n.730A>G n.639A>G c.32A>G c.4227A>G (p.Gly1409=) c.3912A>G (p.Gly1304=) c.1809A>G (p.Gly603=) c.4251A>G (p.Gly1417=) c.4242A>G (p.Gly1414=) c.4233A>G (p.Gly1411=) c.2571A>G (p.Gly857=) | |
X | g.108686050A>T | CA517924057 | COL4A5 | c.4236A>T (p.Gly1412=) c.4218A>T (p.Gly1406=) n.730A>T n.639A>T c.32A>T c.4227A>T (p.Gly1409=) c.3912A>T (p.Gly1304=) c.1809A>T (p.Gly603=) c.4251A>T (p.Gly1417=) c.4242A>T (p.Gly1414=) c.4233A>T (p.Gly1411=) c.2571A>T (p.Gly857=) | |
X | g.108686051G>A | CA413853453 | COL4A5 | c.4237G>A (p.Asp1413Asn) c.4219G>A (p.Asp1407Asn) n.731G>A n.640G>A c.33G>A c.4228G>A (p.Asp1410Asn) c.3913G>A (p.Asp1305Asn) c.1810G>A (p.Asp604Asn) c.4252G>A (p.Asp1418Asn) c.4243G>A (p.Asp1415Asn) c.4234G>A (p.Asp1412Asn) c.2572G>A (p.Asp858Asn) | COSMIC COSMIC |
X | g.108686051G>C | CA413853456 | COL4A5 | c.4237G>C (p.Asp1413His) c.4219G>C (p.Asp1407His) n.731G>C n.640G>C c.33G>C c.4228G>C (p.Asp1410His) c.3913G>C (p.Asp1305His) c.1810G>C (p.Asp604His) c.4252G>C (p.Asp1418His) c.4243G>C (p.Asp1415His) c.4234G>C (p.Asp1412His) c.2572G>C (p.Asp858His) | |
X | g.108686051G>T | CA413853457 | COL4A5 | c.4237G>T (p.Asp1413Tyr) c.4219G>T (p.Asp1407Tyr) n.731G>T n.640G>T c.33G>T c.4228G>T (p.Asp1410Tyr) c.3913G>T (p.Asp1305Tyr) c.1810G>T (p.Asp604Tyr) c.4252G>T (p.Asp1418Tyr) c.4243G>T (p.Asp1415Tyr) c.4234G>T (p.Asp1412Tyr) c.2572G>T (p.Asp858Tyr) | |
X | g.108686052A>C | CA413853462 | COL4A5 | c.4238A>C (p.Asp1413Ala) c.4220A>C (p.Asp1407Ala) n.732A>C n.641A>C c.34A>C c.4229A>C (p.Asp1410Ala) c.3914A>C (p.Asp1305Ala) c.1811A>C (p.Asp604Ala) c.4253A>C (p.Asp1418Ala) c.4244A>C (p.Asp1415Ala) c.4235A>C (p.Asp1412Ala) c.2573A>C (p.Asp858Ala) | |
X | g.108686052A>G | CA413853465 | COL4A5 | c.4238A>G (p.Asp1413Gly) c.4220A>G (p.Asp1407Gly) n.732A>G n.641A>G c.34A>G c.4229A>G (p.Asp1410Gly) c.3914A>G (p.Asp1305Gly) c.1811A>G (p.Asp604Gly) c.4253A>G (p.Asp1418Gly) c.4244A>G (p.Asp1415Gly) c.4235A>G (p.Asp1412Gly) c.2573A>G (p.Asp858Gly) | gnomAD v4 COSMIC |
X | g.108686052A>T | CA413853468 | COL4A5 | c.4238A>T (p.Asp1413Val) c.4220A>T (p.Asp1407Val) n.732A>T n.641A>T c.34A>T c.4229A>T (p.Asp1410Val) c.3914A>T (p.Asp1305Val) c.1811A>T (p.Asp604Val) c.4253A>T (p.Asp1418Val) c.4244A>T (p.Asp1415Val) c.4235A>T (p.Asp1412Val) c.2573A>T (p.Asp858Val) | |
X | g.108686053T>A | CA10489325 | COL4A5 | c.4239T>A (p.Asp1413Glu) c.4221T>A (p.Asp1407Glu) n.733T>A n.642T>A c.35T>A c.4230T>A (p.Asp1410Glu) c.3915T>A (p.Asp1305Glu) c.1812T>A (p.Asp604Glu) c.4254T>A (p.Asp1418Glu) c.4245T>A (p.Asp1415Glu) c.4236T>A (p.Asp1412Glu) c.2574T>A (p.Asp858Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686053T>C | CA517924059 | COL4A5 | c.4239T>C (p.Asp1413=) c.4221T>C (p.Asp1407=) n.733T>C n.642T>C c.35T>C c.4230T>C (p.Asp1410=) c.3915T>C (p.Asp1305=) c.1812T>C (p.Asp604=) c.4254T>C (p.Asp1418=) c.4245T>C (p.Asp1415=) c.4236T>C (p.Asp1412=) c.2574T>C (p.Asp858=) | |
X | g.108686053T>G | CA413853472 | COL4A5 | c.4239T>G (p.Asp1413Glu) c.4221T>G (p.Asp1407Glu) n.733T>G n.642T>G c.35T>G c.4230T>G (p.Asp1410Glu) c.3915T>G (p.Asp1305Glu) c.1812T>G (p.Asp604Glu) c.4254T>G (p.Asp1418Glu) c.4245T>G (p.Asp1415Glu) c.4236T>G (p.Asp1412Glu) c.2574T>G (p.Asp858Glu) | |
X | g.108686053T= | CA2450718757 | COL4A5 | c.4239T= (p.Asp1413=) c.4221T= (p.Asp1407=) n.733T= n.642T= c.35T= c.4230T= (p.Asp1410=) c.3915T= (p.Asp1305=) c.1812T= (p.Asp604=) c.4254T= (p.Asp1418=) c.4245T= (p.Asp1415=) c.4236T= (p.Asp1412=) c.2574T= (p.Asp858=) | |
X | g.108686054C>A | CA413853475 | COL4A5 | c.4240C>A (p.Pro1414Thr) c.4222C>A (p.Pro1408Thr) n.734C>A n.643C>A c.36C>A c.4231C>A (p.Pro1411Thr) c.3916C>A (p.Pro1306Thr) c.1813C>A (p.Pro605Thr) c.4255C>A (p.Pro1419Thr) c.4246C>A (p.Pro1416Thr) c.4237C>A (p.Pro1413Thr) c.2575C>A (p.Pro859Thr) | |
X | g.108686054C>G | CA413853476 | COL4A5 | c.4240C>G (p.Pro1414Ala) c.4222C>G (p.Pro1408Ala) n.734C>G n.643C>G c.36C>G c.4231C>G (p.Pro1411Ala) c.3916C>G (p.Pro1306Ala) c.1813C>G (p.Pro605Ala) c.4255C>G (p.Pro1419Ala) c.4246C>G (p.Pro1416Ala) c.4237C>G (p.Pro1413Ala) c.2575C>G (p.Pro859Ala) | |
X | g.108686054C>T | CA413853478 | COL4A5 | c.4240C>T (p.Pro1414Ser) c.4222C>T (p.Pro1408Ser) n.734C>T n.643C>T c.36C>T c.4231C>T (p.Pro1411Ser) c.3916C>T (p.Pro1306Ser) c.1813C>T (p.Pro605Ser) c.4255C>T (p.Pro1419Ser) c.4246C>T (p.Pro1416Ser) c.4237C>T (p.Pro1413Ser) c.2575C>T (p.Pro859Ser) | |
X | g.108686055C>A | CA413853479 | COL4A5 | c.4241C>A (p.Pro1414His) c.4223C>A (p.Pro1408His) n.735C>A n.644C>A c.37C>A c.4232C>A (p.Pro1411His) c.3917C>A (p.Pro1306His) c.1814C>A (p.Pro605His) c.4256C>A (p.Pro1419His) c.4247C>A (p.Pro1416His) c.4238C>A (p.Pro1413His) c.2576C>A (p.Pro859His) | |
X | g.108686055C>G | CA413853482 | COL4A5 | c.4241C>G (p.Pro1414Arg) c.4223C>G (p.Pro1408Arg) n.735C>G n.644C>G c.37C>G c.4232C>G (p.Pro1411Arg) c.3917C>G (p.Pro1306Arg) c.1814C>G (p.Pro605Arg) c.4256C>G (p.Pro1419Arg) c.4247C>G (p.Pro1416Arg) c.4238C>G (p.Pro1413Arg) c.2576C>G (p.Pro859Arg) | |
X | g.108686055C>T | CA413853484 | COL4A5 | c.4241C>T (p.Pro1414Leu) c.4223C>T (p.Pro1408Leu) n.735C>T n.644C>T c.37C>T c.4232C>T (p.Pro1411Leu) c.3917C>T (p.Pro1306Leu) c.1814C>T (p.Pro605Leu) c.4256C>T (p.Pro1419Leu) c.4247C>T (p.Pro1416Leu) c.4238C>T (p.Pro1413Leu) c.2576C>T (p.Pro859Leu) | |
X | g.108686056T>A | CA517924064 | COL4A5 | c.4242T>A (p.Pro1414=) c.4224T>A (p.Pro1408=) n.736T>A n.645T>A c.38T>A c.4233T>A (p.Pro1411=) c.3918T>A (p.Pro1306=) c.1815T>A (p.Pro605=) c.4257T>A (p.Pro1419=) c.4248T>A (p.Pro1416=) c.4239T>A (p.Pro1413=) c.2577T>A (p.Pro859=) | |
X | g.108686056T>C | CA517924066 | COL4A5 | c.4242T>C (p.Pro1414=) c.4224T>C (p.Pro1408=) n.736T>C n.645T>C c.38T>C c.4233T>C (p.Pro1411=) c.3918T>C (p.Pro1306=) c.1815T>C (p.Pro605=) c.4257T>C (p.Pro1419=) c.4248T>C (p.Pro1416=) c.4239T>C (p.Pro1413=) c.2577T>C (p.Pro859=) | |
X | g.108686056T>G | CA517924068 | COL4A5 | c.4242T>G (p.Pro1414=) c.4224T>G (p.Pro1408=) n.736T>G n.645T>G c.38T>G c.4233T>G (p.Pro1411=) c.3918T>G (p.Pro1306=) c.1815T>G (p.Pro605=) c.4257T>G (p.Pro1419=) c.4248T>G (p.Pro1416=) c.4239T>G (p.Pro1413=) c.2577T>G (p.Pro859=) | |
X | g.108686057G>A | CA413853486 | COL4A5 | c.4243G>A (p.Gly1415Arg) c.4225G>A (p.Gly1409Arg) n.737G>A n.646G>A c.39G>A c.4234G>A (p.Gly1412Arg) c.3919G>A (p.Gly1307Arg) c.1816G>A (p.Gly606Arg) c.4258G>A (p.Gly1420Arg) c.4249G>A (p.Gly1417Arg) c.4240G>A (p.Gly1414Arg) c.2578G>A (p.Gly860Arg) | |
X | g.108686057G>C | CA413853490 | COL4A5 | c.4243G>C (p.Gly1415Arg) c.4225G>C (p.Gly1409Arg) n.737G>C n.646G>C c.39G>C c.4234G>C (p.Gly1412Arg) c.3919G>C (p.Gly1307Arg) c.1816G>C (p.Gly606Arg) c.4258G>C (p.Gly1420Arg) c.4249G>C (p.Gly1417Arg) c.4240G>C (p.Gly1414Arg) c.2578G>C (p.Gly860Arg) | |
X | g.108686057G>T | CA413853488 | COL4A5 | c.4243G>T (p.Gly1415Ter) c.4225G>T (p.Gly1409Ter) n.737G>T n.646G>T c.39G>T c.4234G>T (p.Gly1412Ter) c.3919G>T (p.Gly1307Ter) c.1816G>T (p.Gly606Ter) c.4258G>T (p.Gly1420Ter) c.4249G>T (p.Gly1417Ter) c.4240G>T (p.Gly1414Ter) c.2578G>T (p.Gly860Ter) | |
X | g.108686058del | CA2579677125 | COL4A5 | c.4244del (p.Gly1415AspfsTer?) c.4226del (p.Gly1409AspfsTer?) n.738del n.647del c.40del c.4235del (p.Gly1412AspfsTer?) c.3920del (p.Gly1307AspfsTer?) c.1817del (p.Gly606AspfsTer?) c.4259del (p.Gly1420AspfsTer?) c.4250del (p.Gly1417AspfsTer?) c.4241del (p.Gly1414AspfsTer?) c.2579del (p.Gly860AspfsTer?) | |
X | g.108686058G>A | CA413853494 | COL4A5 | c.4244G>A (p.Gly1415Glu) c.4226G>A (p.Gly1409Glu) n.738G>A n.647G>A c.40G>A c.4235G>A (p.Gly1412Glu) c.3920G>A (p.Gly1307Glu) c.1817G>A (p.Gly606Glu) c.4259G>A (p.Gly1420Glu) c.4250G>A (p.Gly1417Glu) c.4241G>A (p.Gly1414Glu) c.2579G>A (p.Gly860Glu) | |
X | g.108686058G>C | CA413853498 | COL4A5 | c.4244G>C (p.Gly1415Ala) c.4226G>C (p.Gly1409Ala) n.738G>C n.647G>C c.40G>C c.4235G>C (p.Gly1412Ala) c.3920G>C (p.Gly1307Ala) c.1817G>C (p.Gly606Ala) c.4259G>C (p.Gly1420Ala) c.4250G>C (p.Gly1417Ala) c.4241G>C (p.Gly1414Ala) c.2579G>C (p.Gly860Ala) | |
X | g.108686058G>T | CA413853496 | COL4A5 | c.4244G>T (p.Gly1415Val) c.4226G>T (p.Gly1409Val) n.738G>T n.647G>T c.40G>T c.4235G>T (p.Gly1412Val) c.3920G>T (p.Gly1307Val) c.1817G>T (p.Gly606Val) c.4259G>T (p.Gly1420Val) c.4250G>T (p.Gly1417Val) c.4241G>T (p.Gly1414Val) c.2579G>T (p.Gly860Val) | gnomAD v4 |
X | g.108686059A>C | CA517924071 | COL4A5 | c.4245A>C (p.Gly1415=) c.4227A>C (p.Gly1409=) n.739A>C n.648A>C c.41A>C c.4236A>C (p.Gly1412=) c.3921A>C (p.Gly1307=) c.1818A>C (p.Gly606=) c.4260A>C (p.Gly1420=) c.4251A>C (p.Gly1417=) c.4242A>C (p.Gly1414=) c.2580A>C (p.Gly860=) | ClinVar dbSNP |
X | g.108686059A>G | CA517924072 | COL4A5 | c.4245A>G (p.Gly1415=) c.4227A>G (p.Gly1409=) n.739A>G n.648A>G c.41A>G c.4236A>G (p.Gly1412=) c.3921A>G (p.Gly1307=) c.1818A>G (p.Gly606=) c.4260A>G (p.Gly1420=) c.4251A>G (p.Gly1417=) c.4242A>G (p.Gly1414=) c.2580A>G (p.Gly860=) | |
X | g.108686059A>T | CA517924073 | COL4A5 | c.4245A>T (p.Gly1415=) c.4227A>T (p.Gly1409=) n.739A>T n.648A>T c.41A>T c.4236A>T (p.Gly1412=) c.3921A>T (p.Gly1307=) c.1818A>T (p.Gly606=) c.4260A>T (p.Gly1420=) c.4251A>T (p.Gly1417=) c.4242A>T (p.Gly1414=) c.2580A>T (p.Gly860=) | |
X | g.108686060C>A | CA413853502 | COL4A5 | c.4246C>A (p.Arg1416Ser) c.4228C>A (p.Arg1410Ser) n.740C>A n.649C>A c.42C>A c.4237C>A (p.Arg1413Ser) c.3922C>A (p.Arg1308Ser) c.1819C>A (p.Arg607Ser) c.4261C>A (p.Arg1421Ser) c.4252C>A (p.Arg1418Ser) c.4243C>A (p.Arg1415Ser) c.2581C>A (p.Arg861Ser) | gnomAD v4 |
X | g.108686060C= | CA2450718758 | COL4A5 | c.4246C= (p.Arg1416=) c.4228C= (p.Arg1410=) n.740C= n.649C= c.42C= c.4237C= (p.Arg1413=) c.3922C= (p.Arg1308=) c.1819C= (p.Arg607=) c.4261C= (p.Arg1421=) c.4252C= (p.Arg1418=) c.4243C= (p.Arg1415=) c.2581C= (p.Arg861=) | |
X | g.108686060C>G | CA413853503 | COL4A5 | c.4246C>G (p.Arg1416Gly) c.4228C>G (p.Arg1410Gly) n.740C>G n.649C>G c.42C>G c.4237C>G (p.Arg1413Gly) c.3922C>G (p.Arg1308Gly) c.1819C>G (p.Arg607Gly) c.4261C>G (p.Arg1421Gly) c.4252C>G (p.Arg1418Gly) c.4243C>G (p.Arg1415Gly) c.2581C>G (p.Arg861Gly) | |
X | g.108686060C>T | CA259005 | COL4A5 | c.4246C>T (p.Arg1416Cys) c.4228C>T (p.Arg1410Cys) n.740C>T n.649C>T c.42C>T c.4237C>T (p.Arg1413Cys) c.3922C>T (p.Arg1308Cys) c.1819C>T (p.Arg607Cys) c.4261C>T (p.Arg1421Cys) c.4252C>T (p.Arg1418Cys) c.4243C>T (p.Arg1415Cys) c.2581C>T (p.Arg861Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686061G>A | CA10489326 | COL4A5 | c.4247G>A (p.Arg1416His) c.4229G>A (p.Arg1410His) n.741G>A n.650G>A c.43G>A c.4238G>A (p.Arg1413His) c.3923G>A (p.Arg1308His) c.1820G>A (p.Arg607His) c.4262G>A (p.Arg1421His) c.4253G>A (p.Arg1418His) c.4244G>A (p.Arg1415His) c.2582G>A (p.Arg861His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686061G>C | CA413853506 | COL4A5 | c.4247G>C (p.Arg1416Pro) c.4229G>C (p.Arg1410Pro) n.741G>C n.650G>C c.43G>C c.4238G>C (p.Arg1413Pro) c.3923G>C (p.Arg1308Pro) c.1820G>C (p.Arg607Pro) c.4262G>C (p.Arg1421Pro) c.4253G>C (p.Arg1418Pro) c.4244G>C (p.Arg1415Pro) c.2582G>C (p.Arg861Pro) | |
X | g.108686061G= | CA2450718759 | COL4A5 | c.4247G= (p.Arg1416=) c.4229G= (p.Arg1410=) n.741G= n.650G= c.43G= c.4238G= (p.Arg1413=) c.3923G= (p.Arg1308=) c.1820G= (p.Arg607=) c.4262G= (p.Arg1421=) c.4253G= (p.Arg1418=) c.4244G= (p.Arg1415=) c.2582G= (p.Arg861=) | |
X | g.108686061G>T | CA413853507 | COL4A5 | c.4247G>T (p.Arg1416Leu) c.4229G>T (p.Arg1410Leu) n.741G>T n.650G>T c.43G>T c.4238G>T (p.Arg1413Leu) c.3923G>T (p.Arg1308Leu) c.1820G>T (p.Arg607Leu) c.4262G>T (p.Arg1421Leu) c.4253G>T (p.Arg1418Leu) c.4244G>T (p.Arg1415Leu) c.2582G>T (p.Arg861Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686062C>A | CA517924079 | COL4A5 | c.4248C>A (p.Arg1416=) c.4230C>A (p.Arg1410=) n.742C>A n.651C>A c.44C>A c.4239C>A (p.Arg1413=) c.3924C>A (p.Arg1308=) c.1821C>A (p.Arg607=) c.4263C>A (p.Arg1421=) c.4254C>A (p.Arg1418=) c.4245C>A (p.Arg1415=) c.2583C>A (p.Arg861=) | |
X | g.108686062C= | CA2450718760 | COL4A5 | c.4248C= (p.Arg1416=) c.4230C= (p.Arg1410=) n.742C= n.651C= c.44C= c.4239C= (p.Arg1413=) c.3924C= (p.Arg1308=) c.1821C= (p.Arg607=) c.4263C= (p.Arg1421=) c.4254C= (p.Arg1418=) c.4245C= (p.Arg1415=) c.2583C= (p.Arg861=) | |
X | g.108686062C>G | CA517924081 | COL4A5 | c.4248C>G (p.Arg1416=) c.4230C>G (p.Arg1410=) n.742C>G n.651C>G c.44C>G c.4239C>G (p.Arg1413=) c.3924C>G (p.Arg1308=) c.1821C>G (p.Arg607=) c.4263C>G (p.Arg1421=) c.4254C>G (p.Arg1418=) c.4245C>G (p.Arg1415=) c.2583C>G (p.Arg861=) | gnomAD v4 |
X | g.108686062C>T | CA517924082 | COL4A5 | c.4248C>T (p.Arg1416=) c.4230C>T (p.Arg1410=) n.742C>T n.651C>T c.44C>T c.4239C>T (p.Arg1413=) c.3924C>T (p.Arg1308=) c.1821C>T (p.Arg607=) c.4263C>T (p.Arg1421=) c.4254C>T (p.Arg1418=) c.4245C>T (p.Arg1415=) c.2583C>T (p.Arg861=) | ClinVar dbSNP |
X | g.108686063A>C | CA413853513 | COL4A5 | c.4249A>C (p.Asn1417His) c.4231A>C (p.Asn1411His) n.743A>C n.652A>C c.45A>C c.4240A>C (p.Asn1414His) c.3925A>C (p.Asn1309His) c.1822A>C (p.Asn608His) c.4264A>C (p.Asn1422His) c.4255A>C (p.Asn1419His) c.4246A>C (p.Asn1416His) c.2584A>C (p.Asn862His) | |
X | g.108686063A>G | CA413853509 | COL4A5 | c.4249A>G (p.Asn1417Asp) c.4231A>G (p.Asn1411Asp) n.743A>G n.652A>G c.45A>G c.4240A>G (p.Asn1414Asp) c.3925A>G (p.Asn1309Asp) c.1822A>G (p.Asn608Asp) c.4264A>G (p.Asn1422Asp) c.4255A>G (p.Asn1419Asp) c.4246A>G (p.Asn1416Asp) c.2584A>G (p.Asn862Asp) | gnomAD v4 |
X | g.108686063A>T | CA413853511 | COL4A5 | c.4249A>T (p.Asn1417Tyr) c.4231A>T (p.Asn1411Tyr) n.743A>T n.652A>T c.45A>T c.4240A>T (p.Asn1414Tyr) c.3925A>T (p.Asn1309Tyr) c.1822A>T (p.Asn608Tyr) c.4264A>T (p.Asn1422Tyr) c.4255A>T (p.Asn1419Tyr) c.4246A>T (p.Asn1416Tyr) c.2584A>T (p.Asn862Tyr) | |
X | g.108686064A>C | CA413853517 | COL4A5 | c.4250A>C (p.Asn1417Thr) c.4232A>C (p.Asn1411Thr) n.744A>C n.653A>C c.46A>C c.4241A>C (p.Asn1414Thr) c.3926A>C (p.Asn1309Thr) c.1823A>C (p.Asn608Thr) c.4265A>C (p.Asn1422Thr) c.4256A>C (p.Asn1419Thr) c.4247A>C (p.Asn1416Thr) c.2585A>C (p.Asn862Thr) | |
X | g.108686064A>G | CA413853519 | COL4A5 | c.4250A>G (p.Asn1417Ser) c.4232A>G (p.Asn1411Ser) n.744A>G n.653A>G c.46A>G c.4241A>G (p.Asn1414Ser) c.3926A>G (p.Asn1309Ser) c.1823A>G (p.Asn608Ser) c.4265A>G (p.Asn1422Ser) c.4256A>G (p.Asn1419Ser) c.4247A>G (p.Asn1416Ser) c.2585A>G (p.Asn862Ser) | gnomAD v4 |
X | g.108686064A>T | CA413853522 | COL4A5 | c.4250A>T (p.Asn1417Ile) c.4232A>T (p.Asn1411Ile) n.744A>T n.653A>T c.46A>T c.4241A>T (p.Asn1414Ile) c.3926A>T (p.Asn1309Ile) c.1823A>T (p.Asn608Ile) c.4265A>T (p.Asn1422Ile) c.4256A>T (p.Asn1419Ile) c.4247A>T (p.Asn1416Ile) c.2585A>T (p.Asn862Ile) | |
X | g.108686065T>A | CA413853525 | COL4A5 | c.4251T>A (p.Asn1417Lys) c.4233T>A (p.Asn1411Lys) n.745T>A n.654T>A c.47T>A c.4242T>A (p.Asn1414Lys) c.3927T>A (p.Asn1309Lys) c.1824T>A (p.Asn608Lys) c.4266T>A (p.Asn1422Lys) c.4257T>A (p.Asn1419Lys) c.4248T>A (p.Asn1416Lys) c.2586T>A (p.Asn862Lys) | |
X | g.108686065T>C | CA517924088 | COL4A5 | c.4251T>C (p.Asn1417=) c.4233T>C (p.Asn1411=) n.745T>C n.654T>C c.47T>C c.4242T>C (p.Asn1414=) c.3927T>C (p.Asn1309=) c.1824T>C (p.Asn608=) c.4266T>C (p.Asn1422=) c.4257T>C (p.Asn1419=) c.4248T>C (p.Asn1416=) c.2586T>C (p.Asn862=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108686065T>G | CA413853526 | COL4A5 | c.4251T>G (p.Asn1417Lys) c.4233T>G (p.Asn1411Lys) n.745T>G n.654T>G c.47T>G c.4242T>G (p.Asn1414Lys) c.3927T>G (p.Asn1309Lys) c.1824T>G (p.Asn608Lys) c.4266T>G (p.Asn1422Lys) c.4257T>G (p.Asn1419Lys) c.4248T>G (p.Asn1416Lys) c.2586T>G (p.Asn862Lys) | |
X | g.108686065T= | CA2450718762 | COL4A5 | c.4251T= (p.Asn1417=) c.4233T= (p.Asn1411=) n.745T= n.654T= c.47T= c.4242T= (p.Asn1414=) c.3927T= (p.Asn1309=) c.1824T= (p.Asn608=) c.4266T= (p.Asn1422=) c.4257T= (p.Asn1419=) c.4248T= (p.Asn1416=) c.2586T= (p.Asn862=) | |
X | g.108686065_108686066delinsTG | CA2450718761 | COL4A5 | c.4251_4252delinsTG (p.Asn1417=) c.4233_4234delinsTG (p.Asn1411=) n.745_746delinsTG n.654_655delinsTG c.47_48delinsTG c.4242_4243delinsTG (p.Asn1414=) c.3927_3928delinsTG (p.Asn1309=) c.1824_1825delinsTG (p.Asn608=) c.4266_4267delinsTG (p.Asn1422=) c.4257_4258delinsTG (p.Asn1419=) c.4248_4249delinsTG (p.Asn1416=) c.2586_2587delinsTG (p.Asn862=) | |
X | g.108686066G>A | CA413853535 | COL4A5 | c.4252G>A (p.Gly1418Arg) c.4234G>A (p.Gly1412Arg) n.746G>A n.655G>A c.48G>A c.4243G>A (p.Gly1415Arg) c.3928G>A (p.Gly1310Arg) c.1825G>A (p.Gly609Arg) c.4267G>A (p.Gly1423Arg) c.4258G>A (p.Gly1420Arg) c.4249G>A (p.Gly1417Arg) c.2587G>A (p.Gly863Arg) | COSMIC |
X | g.108686066G>C | CA413853532 | COL4A5 | c.4252G>C (p.Gly1418Arg) c.4234G>C (p.Gly1412Arg) n.746G>C n.655G>C c.48G>C c.4243G>C (p.Gly1415Arg) c.3928G>C (p.Gly1310Arg) c.1825G>C (p.Gly609Arg) c.4267G>C (p.Gly1423Arg) c.4258G>C (p.Gly1420Arg) c.4249G>C (p.Gly1417Arg) c.2587G>C (p.Gly863Arg) | |
X | g.108686066G>T | CA413853529 | COL4A5 | c.4252G>T (p.Gly1418Ter) c.4234G>T (p.Gly1412Ter) n.746G>T n.655G>T c.48G>T c.4243G>T (p.Gly1415Ter) c.3928G>T (p.Gly1310Ter) c.1825G>T (p.Gly609Ter) c.4267G>T (p.Gly1423Ter) c.4258G>T (p.Gly1420Ter) c.4249G>T (p.Gly1417Ter) c.2587G>T (p.Gly863Ter) | |
X | g.108686067del | CA261092 | COL4A5 | c.4253del (p.Gly1418AspfsTer?) c.4235del (p.Gly1412AspfsTer?) n.747del n.656del c.49del c.4244del (p.Gly1415AspfsTer?) c.3929del (p.Gly1310AspfsTer?) c.1826del (p.Gly609AspfsTer?) c.4268del (p.Gly1423AspfsTer?) c.4259del (p.Gly1420AspfsTer?) c.4250del (p.Gly1417AspfsTer?) c.2588del (p.Gly863AspfsTer?) | dbSNP |
X | g.108686067G>A | CA413853538 | COL4A5 | c.4253G>A (p.Gly1418Glu) c.4235G>A (p.Gly1412Glu) n.747G>A n.656G>A c.49G>A c.4244G>A (p.Gly1415Glu) c.3929G>A (p.Gly1310Glu) c.1826G>A (p.Gly609Glu) c.4268G>A (p.Gly1423Glu) c.4259G>A (p.Gly1420Glu) c.4250G>A (p.Gly1417Glu) c.2588G>A (p.Gly863Glu) | |
X | g.108686067G>C | CA413853545 | COL4A5 | c.4253G>C (p.Gly1418Ala) c.4235G>C (p.Gly1412Ala) n.747G>C n.656G>C c.49G>C c.4244G>C (p.Gly1415Ala) c.3929G>C (p.Gly1310Ala) c.1826G>C (p.Gly609Ala) c.4268G>C (p.Gly1423Ala) c.4259G>C (p.Gly1420Ala) c.4250G>C (p.Gly1417Ala) c.2588G>C (p.Gly863Ala) | |
X | g.108686067G>T | CA413853548 | COL4A5 | c.4253G>T (p.Gly1418Val) c.4235G>T (p.Gly1412Val) n.747G>T n.656G>T c.49G>T c.4244G>T (p.Gly1415Val) c.3929G>T (p.Gly1310Val) c.1826G>T (p.Gly609Val) c.4268G>T (p.Gly1423Val) c.4259G>T (p.Gly1420Val) c.4250G>T (p.Gly1417Val) c.2588G>T (p.Gly863Val) | COSMIC COSMIC |
X | g.108686068A>C | CA517924094 | COL4A5 | c.4254A>C (p.Gly1418=) c.4236A>C (p.Gly1412=) n.748A>C n.657A>C c.50A>C c.4245A>C (p.Gly1415=) c.3930A>C (p.Gly1310=) c.1827A>C (p.Gly609=) c.4269A>C (p.Gly1423=) c.4260A>C (p.Gly1420=) c.4251A>C (p.Gly1417=) c.2589A>C (p.Gly863=) | |
X | g.108686068A>G | CA517924095 | COL4A5 | c.4254A>G (p.Gly1418=) c.4236A>G (p.Gly1412=) n.748A>G n.657A>G c.50A>G c.4245A>G (p.Gly1415=) c.3930A>G (p.Gly1310=) c.1827A>G (p.Gly609=) c.4269A>G (p.Gly1423=) c.4260A>G (p.Gly1420=) c.4251A>G (p.Gly1417=) c.2589A>G (p.Gly863=) | |
X | g.108686068A>T | CA517924096 | COL4A5 | c.4254A>T (p.Gly1418=) c.4236A>T (p.Gly1412=) n.748A>T n.657A>T c.50A>T c.4245A>T (p.Gly1415=) c.3930A>T (p.Gly1310=) c.1827A>T (p.Gly609=) c.4269A>T (p.Gly1423=) c.4260A>T (p.Gly1420=) c.4251A>T (p.Gly1417=) c.2589A>T (p.Gly863=) | |
X | g.108686069C>A | CA413853552 | COL4A5 | c.4255C>A (p.Leu1419Ile) c.4237C>A (p.Leu1413Ile) n.749C>A n.658C>A c.51C>A c.4246C>A (p.Leu1416Ile) c.3931C>A (p.Leu1311Ile) c.1828C>A (p.Leu610Ile) c.4270C>A (p.Leu1424Ile) c.4261C>A (p.Leu1421Ile) c.4252C>A (p.Leu1418Ile) c.2590C>A (p.Leu864Ile) | |
X | g.108686069C= | CA2450718763 | COL4A5 | c.4255C= (p.Leu1419=) c.4237C= (p.Leu1413=) n.749C= n.658C= c.51C= c.4246C= (p.Leu1416=) c.3931C= (p.Leu1311=) c.1828C= (p.Leu610=) c.4270C= (p.Leu1424=) c.4261C= (p.Leu1421=) c.4252C= (p.Leu1418=) c.2590C= (p.Leu864=) | |
X | g.108686069C>G | CA413853555 | COL4A5 | c.4255C>G (p.Leu1419Val) c.4237C>G (p.Leu1413Val) n.749C>G n.658C>G c.51C>G c.4246C>G (p.Leu1416Val) c.3931C>G (p.Leu1311Val) c.1828C>G (p.Leu610Val) c.4270C>G (p.Leu1424Val) c.4261C>G (p.Leu1421Val) c.4252C>G (p.Leu1418Val) c.2590C>G (p.Leu864Val) | |
X | g.108686069C>T | CA413853557 | COL4A5 | c.4255C>T (p.Leu1419Phe) c.4237C>T (p.Leu1413Phe) n.749C>T n.658C>T c.51C>T c.4246C>T (p.Leu1416Phe) c.3931C>T (p.Leu1311Phe) c.1828C>T (p.Leu610Phe) c.4270C>T (p.Leu1424Phe) c.4261C>T (p.Leu1421Phe) c.4252C>T (p.Leu1418Phe) c.2590C>T (p.Leu864Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108686070T>A | CA413853560 | COL4A5 | c.4256T>A (p.Leu1419His) c.4238T>A (p.Leu1413His) n.750T>A n.659T>A c.52T>A c.4247T>A (p.Leu1416His) c.3932T>A (p.Leu1311His) c.1829T>A (p.Leu610His) c.4271T>A (p.Leu1424His) c.4262T>A (p.Leu1421His) c.4253T>A (p.Leu1418His) c.2591T>A (p.Leu864His) | |
X | g.108686070T>C | CA413853566 | COL4A5 | c.4256T>C (p.Leu1419Pro) c.4238T>C (p.Leu1413Pro) n.750T>C n.659T>C c.52T>C c.4247T>C (p.Leu1416Pro) c.3932T>C (p.Leu1311Pro) c.1829T>C (p.Leu610Pro) c.4271T>C (p.Leu1424Pro) c.4262T>C (p.Leu1421Pro) c.4253T>C (p.Leu1418Pro) c.2591T>C (p.Leu864Pro) | |
X | g.108686070T>G | CA413853563 | COL4A5 | c.4256T>G (p.Leu1419Arg) c.4238T>G (p.Leu1413Arg) n.750T>G n.659T>G c.52T>G c.4247T>G (p.Leu1416Arg) c.3932T>G (p.Leu1311Arg) c.1829T>G (p.Leu610Arg) c.4271T>G (p.Leu1424Arg) c.4262T>G (p.Leu1421Arg) c.4253T>G (p.Leu1418Arg) c.2591T>G (p.Leu864Arg) | |
X | g.108686071C>A | CA517924101 | COL4A5 | c.4257C>A (p.Leu1419=) c.4239C>A (p.Leu1413=) n.751C>A n.660C>A c.53C>A c.4248C>A (p.Leu1416=) c.3933C>A (p.Leu1311=) c.1830C>A (p.Leu610=) c.4272C>A (p.Leu1424=) c.4263C>A (p.Leu1421=) c.4254C>A (p.Leu1418=) c.2592C>A (p.Leu864=) | |
X | g.108686071C= | CA2450718764 | COL4A5 | c.4257C= (p.Leu1419=) c.4239C= (p.Leu1413=) n.751C= n.660C= c.53C= c.4248C= (p.Leu1416=) c.3933C= (p.Leu1311=) c.1830C= (p.Leu610=) c.4272C= (p.Leu1424=) c.4263C= (p.Leu1421=) c.4254C= (p.Leu1418=) c.2592C= (p.Leu864=) | |
X | g.108686071C>G | CA517924102 | COL4A5 | c.4257C>G (p.Leu1419=) c.4239C>G (p.Leu1413=) n.751C>G n.660C>G c.53C>G c.4248C>G (p.Leu1416=) c.3933C>G (p.Leu1311=) c.1830C>G (p.Leu610=) c.4272C>G (p.Leu1424=) c.4263C>G (p.Leu1421=) c.4254C>G (p.Leu1418=) c.2592C>G (p.Leu864=) | |
X | g.108686071C>T | CA259007 | COL4A5 | c.4257C>T (p.Leu1419=) c.4239C>T (p.Leu1413=) n.751C>T n.660C>T c.53C>T c.4248C>T (p.Leu1416=) c.3933C>T (p.Leu1311=) c.1830C>T (p.Leu610=) c.4272C>T (p.Leu1424=) c.4263C>T (p.Leu1421=) c.4254C>T (p.Leu1418=) c.2592C>T (p.Leu864=) | dbSNP |
X | g.108686072C>A | CA413853571 | COL4A5 | c.4258C>A (p.Pro1420Thr) c.4240C>A (p.Pro1414Thr) n.752C>A n.661C>A c.54C>A c.4249C>A (p.Pro1417Thr) c.3934C>A (p.Pro1312Thr) c.1831C>A (p.Pro611Thr) c.4273C>A (p.Pro1425Thr) c.4264C>A (p.Pro1422Thr) c.4255C>A (p.Pro1419Thr) c.2593C>A (p.Pro865Thr) | |
X | g.108686072C= | CA2450718765 | COL4A5 | c.4258C= (p.Pro1420=) c.4240C= (p.Pro1414=) n.752C= n.661C= c.54C= c.4249C= (p.Pro1417=) c.3934C= (p.Pro1312=) c.1831C= (p.Pro611=) c.4273C= (p.Pro1425=) c.4264C= (p.Pro1422=) c.4255C= (p.Pro1419=) c.2593C= (p.Pro865=) | |
X | g.108686072C>G | CA413853574 | COL4A5 | c.4258C>G (p.Pro1420Ala) c.4240C>G (p.Pro1414Ala) n.752C>G n.661C>G c.54C>G c.4249C>G (p.Pro1417Ala) c.3934C>G (p.Pro1312Ala) c.1831C>G (p.Pro611Ala) c.4273C>G (p.Pro1425Ala) c.4264C>G (p.Pro1422Ala) c.4255C>G (p.Pro1419Ala) c.2593C>G (p.Pro865Ala) | ClinVar |
X | g.108686072C>T | CA413853575 | COL4A5 | c.4258C>T (p.Pro1420Ser) c.4240C>T (p.Pro1414Ser) n.752C>T n.661C>T c.54C>T c.4249C>T (p.Pro1417Ser) c.3934C>T (p.Pro1312Ser) c.1831C>T (p.Pro611Ser) c.4273C>T (p.Pro1425Ser) c.4264C>T (p.Pro1422Ser) c.4255C>T (p.Pro1419Ser) c.2593C>T (p.Pro865Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.108686073C>A | CA413853579 | COL4A5 | c.4259C>A (p.Pro1420His) c.4241C>A (p.Pro1414His) n.753C>A n.662C>A c.55C>A c.4250C>A (p.Pro1417His) c.3935C>A (p.Pro1312His) c.1832C>A (p.Pro611His) c.4274C>A (p.Pro1425His) c.4265C>A (p.Pro1422His) c.4256C>A (p.Pro1419His) c.2594C>A (p.Pro865His) | |
X | g.108686073C>G | CA413853584 | COL4A5 | c.4259C>G (p.Pro1420Arg) c.4241C>G (p.Pro1414Arg) n.753C>G n.662C>G c.55C>G c.4250C>G (p.Pro1417Arg) c.3935C>G (p.Pro1312Arg) c.1832C>G (p.Pro611Arg) c.4274C>G (p.Pro1425Arg) c.4265C>G (p.Pro1422Arg) c.4256C>G (p.Pro1419Arg) c.2594C>G (p.Pro865Arg) | |
X | g.108686073C>T | CA413853582 | COL4A5 | c.4259C>T (p.Pro1420Leu) c.4241C>T (p.Pro1414Leu) n.753C>T n.662C>T c.55C>T c.4250C>T (p.Pro1417Leu) c.3935C>T (p.Pro1312Leu) c.1832C>T (p.Pro611Leu) c.4274C>T (p.Pro1425Leu) c.4265C>T (p.Pro1422Leu) c.4256C>T (p.Pro1419Leu) c.2594C>T (p.Pro865Leu) | gnomAD v4 |
X | g.108686074T>A | CA517924108 | COL4A5 | c.4260T>A (p.Pro1420=) c.4242T>A (p.Pro1414=) n.754T>A n.663T>A c.56T>A c.4251T>A (p.Pro1417=) c.3936T>A (p.Pro1312=) c.1833T>A (p.Pro611=) c.4275T>A (p.Pro1425=) c.4266T>A (p.Pro1422=) c.4257T>A (p.Pro1419=) c.2595T>A (p.Pro865=) | |
X | g.108686074T>C | CA517924109 | COL4A5 | c.4260T>C (p.Pro1420=) c.4242T>C (p.Pro1414=) n.754T>C n.663T>C c.56T>C c.4251T>C (p.Pro1417=) c.3936T>C (p.Pro1312=) c.1833T>C (p.Pro611=) c.4275T>C (p.Pro1425=) c.4266T>C (p.Pro1422=) c.4257T>C (p.Pro1419=) c.2595T>C (p.Pro865=) | dbSNP |
X | g.108686074T>G | CA517924110 | COL4A5 | c.4260T>G (p.Pro1420=) c.4242T>G (p.Pro1414=) n.754T>G n.663T>G c.56T>G c.4251T>G (p.Pro1417=) c.3936T>G (p.Pro1312=) c.1833T>G (p.Pro611=) c.4275T>G (p.Pro1425=) c.4266T>G (p.Pro1422=) c.4257T>G (p.Pro1419=) c.2595T>G (p.Pro865=) | |
X | g.108686074T= | CA2450718766 | COL4A5 | c.4260T= (p.Pro1420=) c.4242T= (p.Pro1414=) n.754T= n.663T= c.56T= c.4251T= (p.Pro1417=) c.3936T= (p.Pro1312=) c.1833T= (p.Pro611=) c.4275T= (p.Pro1425=) c.4266T= (p.Pro1422=) c.4257T= (p.Pro1419=) c.2595T= (p.Pro865=) | |
X | g.108686075G>A | CA413853587 | COL4A5 | c.4261G>A (p.Gly1421Ser) c.4243G>A (p.Gly1415Ser) n.755G>A n.664G>A c.57G>A c.4252G>A (p.Gly1418Ser) c.3937G>A (p.Gly1313Ser) c.1834G>A (p.Gly612Ser) c.4276G>A (p.Gly1426Ser) c.4267G>A (p.Gly1423Ser) c.4258G>A (p.Gly1420Ser) c.2596G>A (p.Gly866Ser) | |
X | g.108686075G>C | CA413853591 | COL4A5 | c.4261G>C (p.Gly1421Arg) c.4243G>C (p.Gly1415Arg) n.755G>C n.664G>C c.57G>C c.4252G>C (p.Gly1418Arg) c.3937G>C (p.Gly1313Arg) c.1834G>C (p.Gly612Arg) c.4276G>C (p.Gly1426Arg) c.4267G>C (p.Gly1423Arg) c.4258G>C (p.Gly1420Arg) c.2596G>C (p.Gly866Arg) | |
X | g.108686075G>T | CA413853594 | COL4A5 | c.4261G>T (p.Gly1421Cys) c.4243G>T (p.Gly1415Cys) n.755G>T n.664G>T c.57G>T c.4252G>T (p.Gly1418Cys) c.3937G>T (p.Gly1313Cys) c.1834G>T (p.Gly612Cys) c.4276G>T (p.Gly1426Cys) c.4267G>T (p.Gly1423Cys) c.4258G>T (p.Gly1420Cys) c.2596G>T (p.Gly866Cys) | |
X | g.108686076G>A | CA413853598 | COL4A5 | c.4262G>A (p.Gly1421Asp) c.4244G>A (p.Gly1415Asp) n.756G>A n.665G>A c.58G>A c.4253G>A (p.Gly1418Asp) c.3938G>A (p.Gly1313Asp) c.1835G>A (p.Gly612Asp) c.4277G>A (p.Gly1426Asp) c.4268G>A (p.Gly1423Asp) c.4259G>A (p.Gly1420Asp) c.2597G>A (p.Gly866Asp) | |
X | g.108686076G>C | CA413853600 | COL4A5 | c.4262G>C (p.Gly1421Ala) c.4244G>C (p.Gly1415Ala) n.756G>C n.665G>C c.58G>C c.4253G>C (p.Gly1418Ala) c.3938G>C (p.Gly1313Ala) c.1835G>C (p.Gly612Ala) c.4277G>C (p.Gly1426Ala) c.4268G>C (p.Gly1423Ala) c.4259G>C (p.Gly1420Ala) c.2597G>C (p.Gly866Ala) | |
X | g.108686076G>T | CA413853603 | COL4A5 | c.4262G>T (p.Gly1421Val) c.4244G>T (p.Gly1415Val) n.756G>T n.665G>T c.58G>T c.4253G>T (p.Gly1418Val) c.3938G>T (p.Gly1313Val) c.1835G>T (p.Gly612Val) c.4277G>T (p.Gly1426Val) c.4268G>T (p.Gly1423Val) c.4259G>T (p.Gly1420Val) c.2597G>T (p.Gly866Val) | |
X | g.108686077C>A | CA517924115 | COL4A5 | c.4263C>A (p.Gly1421=) c.4245C>A (p.Gly1415=) n.757C>A n.666C>A c.59C>A c.4254C>A (p.Gly1418=) c.3939C>A (p.Gly1313=) c.1836C>A (p.Gly612=) c.4278C>A (p.Gly1426=) c.4269C>A (p.Gly1423=) c.4260C>A (p.Gly1420=) c.2598C>A (p.Gly866=) | |
X | g.108686077C= | CA2450718767 | COL4A5 | c.4263C= (p.Gly1421=) c.4245C= (p.Gly1415=) n.757C= n.666C= c.59C= c.4254C= (p.Gly1418=) c.3939C= (p.Gly1313=) c.1836C= (p.Gly612=) c.4278C= (p.Gly1426=) c.4269C= (p.Gly1423=) c.4260C= (p.Gly1420=) c.2598C= (p.Gly866=) | |
X | g.108686077C>G | CA517924114 | COL4A5 | c.4263C>G (p.Gly1421=) c.4245C>G (p.Gly1415=) n.757C>G n.666C>G c.59C>G c.4254C>G (p.Gly1418=) c.3939C>G (p.Gly1313=) c.1836C>G (p.Gly612=) c.4278C>G (p.Gly1426=) c.4269C>G (p.Gly1423=) c.4260C>G (p.Gly1420=) c.2598C>G (p.Gly866=) | |
X | g.108686077C>T | CA10489327 | COL4A5 | c.4263C>T (p.Gly1421=) c.4245C>T (p.Gly1415=) n.757C>T n.666C>T c.59C>T c.4254C>T (p.Gly1418=) c.3939C>T (p.Gly1313=) c.1836C>T (p.Gly612=) c.4278C>T (p.Gly1426=) c.4269C>T (p.Gly1423=) c.4260C>T (p.Gly1420=) c.2598C>T (p.Gly866=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686078T>A | CA413853608 | COL4A5 | c.4264T>A (p.Phe1422Ile) c.4246T>A (p.Phe1416Ile) n.758T>A n.667T>A c.60T>A c.4255T>A (p.Phe1419Ile) c.3940T>A (p.Phe1314Ile) c.1837T>A (p.Phe613Ile) c.4279T>A (p.Phe1427Ile) c.4270T>A (p.Phe1424Ile) c.4261T>A (p.Phe1421Ile) c.2599T>A (p.Phe867Ile) | |
X | g.108686078T>C | CA413853611 | COL4A5 | c.4264T>C (p.Phe1422Leu) c.4246T>C (p.Phe1416Leu) n.758T>C n.667T>C c.60T>C c.4255T>C (p.Phe1419Leu) c.3940T>C (p.Phe1314Leu) c.1837T>C (p.Phe613Leu) c.4279T>C (p.Phe1427Leu) c.4270T>C (p.Phe1424Leu) c.4261T>C (p.Phe1421Leu) c.2599T>C (p.Phe867Leu) | |
X | g.108686078T>G | CA413853614 | COL4A5 | c.4264T>G (p.Phe1422Val) c.4246T>G (p.Phe1416Val) n.758T>G n.667T>G c.60T>G c.4255T>G (p.Phe1419Val) c.3940T>G (p.Phe1314Val) c.1837T>G (p.Phe613Val) c.4279T>G (p.Phe1427Val) c.4270T>G (p.Phe1424Val) c.4261T>G (p.Phe1421Val) c.2599T>G (p.Phe867Val) | |
X | g.108686079T>A | CA413853617 | COL4A5 | c.4265T>A (p.Phe1422Tyr) c.4247T>A (p.Phe1416Tyr) n.759T>A n.668T>A c.61T>A c.4256T>A (p.Phe1419Tyr) c.3941T>A (p.Phe1314Tyr) c.1838T>A (p.Phe613Tyr) c.4280T>A (p.Phe1427Tyr) c.4271T>A (p.Phe1424Tyr) c.4262T>A (p.Phe1421Tyr) c.2600T>A (p.Phe867Tyr) | |
X | g.108686079T>C | CA413853621 | COL4A5 | c.4265T>C (p.Phe1422Ser) c.4247T>C (p.Phe1416Ser) n.759T>C n.668T>C c.61T>C c.4256T>C (p.Phe1419Ser) c.3941T>C (p.Phe1314Ser) c.1838T>C (p.Phe613Ser) c.4280T>C (p.Phe1427Ser) c.4271T>C (p.Phe1424Ser) c.4262T>C (p.Phe1421Ser) c.2600T>C (p.Phe867Ser) | |
X | g.108686079T>G | CA413853623 | COL4A5 | c.4265T>G (p.Phe1422Cys) c.4247T>G (p.Phe1416Cys) n.759T>G n.668T>G c.61T>G c.4256T>G (p.Phe1419Cys) c.3941T>G (p.Phe1314Cys) c.1838T>G (p.Phe613Cys) c.4280T>G (p.Phe1427Cys) c.4271T>G (p.Phe1424Cys) c.4262T>G (p.Phe1421Cys) c.2600T>G (p.Phe867Cys) | |
X | g.108686080T>A | CA413853630 | COL4A5 | c.4266T>A (p.Phe1422Leu) c.4248T>A (p.Phe1416Leu) n.760T>A n.669T>A c.62T>A c.4257T>A (p.Phe1419Leu) c.3942T>A (p.Phe1314Leu) c.1839T>A (p.Phe613Leu) c.4281T>A (p.Phe1427Leu) c.4272T>A (p.Phe1424Leu) c.4263T>A (p.Phe1421Leu) c.2601T>A (p.Phe867Leu) | gnomAD v4 |
X | g.108686080T>C | CA10489328 | COL4A5 | c.4266T>C (p.Phe1422=) c.4248T>C (p.Phe1416=) n.760T>C n.669T>C c.62T>C c.4257T>C (p.Phe1419=) c.3942T>C (p.Phe1314=) c.1839T>C (p.Phe613=) c.4281T>C (p.Phe1427=) c.4272T>C (p.Phe1424=) c.4263T>C (p.Phe1421=) c.2601T>C (p.Phe867=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686080T>G | CA413853627 | COL4A5 | c.4266T>G (p.Phe1422Leu) c.4248T>G (p.Phe1416Leu) n.760T>G n.669T>G c.62T>G c.4257T>G (p.Phe1419Leu) c.3942T>G (p.Phe1314Leu) c.1839T>G (p.Phe613Leu) c.4281T>G (p.Phe1427Leu) c.4272T>G (p.Phe1424Leu) c.4263T>G (p.Phe1421Leu) c.2601T>G (p.Phe867Leu) | |
X | g.108686080T= | CA2450718768 | COL4A5 | c.4266T= (p.Phe1422=) c.4248T= (p.Phe1416=) n.760T= n.669T= c.62T= c.4257T= (p.Phe1419=) c.3942T= (p.Phe1314=) c.1839T= (p.Phe613=) c.4281T= (p.Phe1427=) c.4272T= (p.Phe1424=) c.4263T= (p.Phe1421=) c.2601T= (p.Phe867=) | |
X | g.108686081G>A | CA10489329 | COL4A5 | c.4267G>A (p.Asp1423Asn) c.4249G>A (p.Asp1417Asn) n.761G>A n.670G>A c.63G>A c.4258G>A (p.Asp1420Asn) c.3943G>A (p.Asp1315Asn) c.1840G>A (p.Asp614Asn) c.4282G>A (p.Asp1428Asn) c.4273G>A (p.Asp1425Asn) c.4264G>A (p.Asp1422Asn) c.2602G>A (p.Asp868Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686081G>C | CA413853635 | COL4A5 | c.4267G>C (p.Asp1423His) c.4249G>C (p.Asp1417His) n.761G>C n.670G>C c.63G>C c.4258G>C (p.Asp1420His) c.3943G>C (p.Asp1315His) c.1840G>C (p.Asp614His) c.4282G>C (p.Asp1428His) c.4273G>C (p.Asp1425His) c.4264G>C (p.Asp1422His) c.2602G>C (p.Asp868His) | COSMIC COSMIC |
X | g.108686081G= | CA2450718769 | COL4A5 | c.4267G= (p.Asp1423=) c.4249G= (p.Asp1417=) n.761G= n.670G= c.63G= c.4258G= (p.Asp1420=) c.3943G= (p.Asp1315=) c.1840G= (p.Asp614=) c.4282G= (p.Asp1428=) c.4273G= (p.Asp1425=) c.4264G= (p.Asp1422=) c.2602G= (p.Asp868=) | |
X | g.108686081G>T | CA413853638 | COL4A5 | c.4267G>T (p.Asp1423Tyr) c.4249G>T (p.Asp1417Tyr) n.761G>T n.670G>T c.63G>T c.4258G>T (p.Asp1420Tyr) c.3943G>T (p.Asp1315Tyr) c.1840G>T (p.Asp614Tyr) c.4282G>T (p.Asp1428Tyr) c.4273G>T (p.Asp1425Tyr) c.4264G>T (p.Asp1422Tyr) c.2602G>T (p.Asp868Tyr) | gnomAD v4 |
X | g.108686082A= | CA2450718770 | COL4A5 | c.4268A= (p.Asp1423=) c.4250A= (p.Asp1417=) n.762A= n.671A= c.64A= c.4259A= (p.Asp1420=) c.3944A= (p.Asp1315=) c.1841A= (p.Asp614=) c.4283A= (p.Asp1428=) c.4274A= (p.Asp1425=) c.4265A= (p.Asp1422=) c.2603A= (p.Asp868=) | |
X | g.108686082A>C | CA413853641 | COL4A5 | c.4268A>C (p.Asp1423Ala) c.4250A>C (p.Asp1417Ala) n.762A>C n.671A>C c.64A>C c.4259A>C (p.Asp1420Ala) c.3944A>C (p.Asp1315Ala) c.1841A>C (p.Asp614Ala) c.4283A>C (p.Asp1428Ala) c.4274A>C (p.Asp1425Ala) c.4265A>C (p.Asp1422Ala) c.2603A>C (p.Asp868Ala) | |
X | g.108686082A>G | CA413853644 | COL4A5 | c.4268A>G (p.Asp1423Gly) c.4250A>G (p.Asp1417Gly) n.762A>G n.671A>G c.64A>G c.4259A>G (p.Asp1420Gly) c.3944A>G (p.Asp1315Gly) c.1841A>G (p.Asp614Gly) c.4283A>G (p.Asp1428Gly) c.4274A>G (p.Asp1425Gly) c.4265A>G (p.Asp1422Gly) c.2603A>G (p.Asp868Gly) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108686082A>T | CA413853646 | COL4A5 | c.4268A>T (p.Asp1423Val) c.4250A>T (p.Asp1417Val) n.762A>T n.671A>T c.64A>T c.4259A>T (p.Asp1420Val) c.3944A>T (p.Asp1315Val) c.1841A>T (p.Asp614Val) c.4283A>T (p.Asp1428Val) c.4274A>T (p.Asp1425Val) c.4265A>T (p.Asp1422Val) c.2603A>T (p.Asp868Val) | |
X | g.108686083T>A | CA413853649 | COL4A5 | c.4269T>A (p.Asp1423Glu) c.4251T>A (p.Asp1417Glu) n.763T>A n.672T>A c.65T>A c.4260T>A (p.Asp1420Glu) c.3945T>A (p.Asp1315Glu) c.1842T>A (p.Asp614Glu) c.4284T>A (p.Asp1428Glu) c.4275T>A (p.Asp1425Glu) c.4266T>A (p.Asp1422Glu) c.2604T>A (p.Asp868Glu) | |
X | g.108686083T>C | CA517924126 | COL4A5 | c.4269T>C (p.Asp1423=) c.4251T>C (p.Asp1417=) n.763T>C n.672T>C c.65T>C c.4260T>C (p.Asp1420=) c.3945T>C (p.Asp1315=) c.1842T>C (p.Asp614=) c.4284T>C (p.Asp1428=) c.4275T>C (p.Asp1425=) c.4266T>C (p.Asp1422=) c.2604T>C (p.Asp868=) | |
X | g.108686083T>G | CA413853650 | COL4A5 | c.4269T>G (p.Asp1423Glu) c.4251T>G (p.Asp1417Glu) n.763T>G n.672T>G c.65T>G c.4260T>G (p.Asp1420Glu) c.3945T>G (p.Asp1315Glu) c.1842T>G (p.Asp614Glu) c.4284T>G (p.Asp1428Glu) c.4275T>G (p.Asp1425Glu) c.4266T>G (p.Asp1422Glu) c.2604T>G (p.Asp868Glu) | |
X | g.108686084G>A | CA10489330 | COL4A5 | c.4270G>A (p.Gly1424Ser) c.4252G>A (p.Gly1418Ser) n.764G>A n.673G>A c.66G>A c.4261G>A (p.Gly1421Ser) c.3946G>A (p.Gly1316Ser) c.1843G>A (p.Gly615Ser) c.4285G>A (p.Gly1429Ser) c.4276G>A (p.Gly1426Ser) c.4267G>A (p.Gly1423Ser) c.2605G>A (p.Gly869Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108686084G>C | CA413853652 | COL4A5 | c.4270G>C (p.Gly1424Arg) c.4252G>C (p.Gly1418Arg) n.764G>C n.673G>C c.66G>C c.4261G>C (p.Gly1421Arg) c.3946G>C (p.Gly1316Arg) c.1843G>C (p.Gly615Arg) c.4285G>C (p.Gly1429Arg) c.4276G>C (p.Gly1426Arg) c.4267G>C (p.Gly1423Arg) c.2605G>C (p.Gly869Arg) | |
X | g.108686084G= | CA2450718771 | COL4A5 | c.4270G= (p.Gly1424=) c.4252G= (p.Gly1418=) n.764G= n.673G= c.66G= c.4261G= (p.Gly1421=) c.3946G= (p.Gly1316=) c.1843G= (p.Gly615=) c.4285G= (p.Gly1429=) c.4276G= (p.Gly1426=) c.4267G= (p.Gly1423=) c.2605G= (p.Gly869=) | |
X | g.108686084G>T | CA413853654 | COL4A5 | c.4270G>T (p.Gly1424Cys) c.4252G>T (p.Gly1418Cys) n.764G>T n.673G>T c.66G>T c.4261G>T (p.Gly1421Cys) c.3946G>T (p.Gly1316Cys) c.1843G>T (p.Gly615Cys) c.4285G>T (p.Gly1429Cys) c.4276G>T (p.Gly1426Cys) c.4267G>T (p.Gly1423Cys) c.2605G>T (p.Gly869Cys) | gnomAD v4 |
X | g.108686085G>A | CA413853656 | COL4A5 | c.4271G>A (p.Gly1424Asp) c.4253G>A (p.Gly1418Asp) n.765G>A n.674G>A c.67G>A c.4262G>A (p.Gly1421Asp) c.3947G>A (p.Gly1316Asp) c.1844G>A (p.Gly615Asp) c.4286G>A (p.Gly1429Asp) c.4277G>A (p.Gly1426Asp) c.4268G>A (p.Gly1423Asp) c.2606G>A (p.Gly869Asp) | |
X | g.108686085G>C | CA413853662 | COL4A5 | c.4271G>C (p.Gly1424Ala) c.4253G>C (p.Gly1418Ala) n.765G>C n.674G>C c.67G>C c.4262G>C (p.Gly1421Ala) c.3947G>C (p.Gly1316Ala) c.1844G>C (p.Gly615Ala) c.4286G>C (p.Gly1429Ala) c.4277G>C (p.Gly1426Ala) c.4268G>C (p.Gly1423Ala) c.2606G>C (p.Gly869Ala) | |
X | g.108686085G>T | CA413853659 | COL4A5 | c.4271G>T (p.Gly1424Val) c.4253G>T (p.Gly1418Val) n.765G>T n.674G>T c.67G>T c.4262G>T (p.Gly1421Val) c.3947G>T (p.Gly1316Val) c.1844G>T (p.Gly615Val) c.4286G>T (p.Gly1429Val) c.4277G>T (p.Gly1426Val) c.4268G>T (p.Gly1423Val) c.2606G>T (p.Gly869Val) | |
X | g.108686086T>A | CA517924132 | COL4A5 | c.4272T>A (p.Gly1424=) c.4254T>A (p.Gly1418=) n.766T>A n.675T>A c.68T>A c.4263T>A (p.Gly1421=) c.3948T>A (p.Gly1316=) c.1845T>A (p.Gly615=) c.4287T>A (p.Gly1429=) c.4278T>A (p.Gly1426=) c.4269T>A (p.Gly1423=) c.2607T>A (p.Gly869=) | |
X | g.108686086T>C | CA517924133 | COL4A5 | c.4272T>C (p.Gly1424=) c.4254T>C (p.Gly1418=) n.766T>C n.675T>C c.68T>C c.4263T>C (p.Gly1421=) c.3948T>C (p.Gly1316=) c.1845T>C (p.Gly615=) c.4287T>C (p.Gly1429=) c.4278T>C (p.Gly1426=) c.4269T>C (p.Gly1423=) c.2607T>C (p.Gly869=) | |
X | g.108686086T>G | CA517924134 | COL4A5 | c.4272T>G (p.Gly1424=) c.4254T>G (p.Gly1418=) n.766T>G n.675T>G c.68T>G c.4263T>G (p.Gly1421=) c.3948T>G (p.Gly1316=) c.1845T>G (p.Gly615=) c.4287T>G (p.Gly1429=) c.4278T>G (p.Gly1426=) c.4269T>G (p.Gly1423=) c.2607T>G (p.Gly869=) | |
X | g.108686086_108686091delinsCGCAAAGGAGACCC | CA2695235231 | COL4A5 | c.4272_4277delinsCGCAAAGGAGACCC (p.Gly1426LysfsTer?) c.4254_4259delinsCGCAAAGGAGACCC (p.Gly1420LysfsTer?) n.766_771delinsCGCAAAGGAGACCC n.675_680delinsCGCAAAGGAGACCC c.68_73delinsCGCAAAGGAGACCC c.4263_4268delinsCGCAAAGGAGACCC (p.Gly1423LysfsTer?) c.3948_3953delinsCGCAAAGGAGACCC (p.Gly1318LysfsTer?) c.1845_1850delinsCGCAAAGGAGACCC (p.Gly617LysfsTer?) c.4287_4292delinsCGCAAAGGAGACCC (p.Gly1431LysfsTer?) c.4278_4283delinsCGCAAAGGAGACCC (p.Gly1428LysfsTer?) c.4269_4274delinsCGCAAAGGAGACCC (p.Gly1425LysfsTer?) c.2607_2612delinsCGCAAAGGAGACCC (p.Gly871LysfsTer?) | |
X | g.108686087G>A | CA413853665 | COL4A5 | c.4273G>A (p.Ala1425Thr) c.4255G>A (p.Ala1419Thr) n.767G>A n.676G>A c.69G>A c.4264G>A (p.Ala1422Thr) c.3949G>A (p.Ala1317Thr) c.1846G>A (p.Ala616Thr) c.4288G>A (p.Ala1430Thr) c.4279G>A (p.Ala1427Thr) c.4270G>A (p.Ala1424Thr) c.2608G>A (p.Ala870Thr) | dbSNP gnomAD v4 |
X | g.108686087G>C | CA413853670 | COL4A5 | c.4273G>C (p.Ala1425Pro) c.4255G>C (p.Ala1419Pro) n.767G>C n.676G>C c.69G>C c.4264G>C (p.Ala1422Pro) c.3949G>C (p.Ala1317Pro) c.1846G>C (p.Ala616Pro) c.4288G>C (p.Ala1430Pro) c.4279G>C (p.Ala1427Pro) c.4270G>C (p.Ala1424Pro) c.2608G>C (p.Ala870Pro) | |
X | g.108686087G= | CA2450718772 | COL4A5 | c.4273G= (p.Ala1425=) c.4255G= (p.Ala1419=) n.767G= n.676G= c.69G= c.4264G= (p.Ala1422=) c.3949G= (p.Ala1317=) c.1846G= (p.Ala616=) c.4288G= (p.Ala1430=) c.4279G= (p.Ala1427=) c.4270G= (p.Ala1424=) c.2608G= (p.Ala870=) | |
X | g.108686087G>T | CA413853667 | COL4A5 | c.4273G>T (p.Ala1425Ser) c.4255G>T (p.Ala1419Ser) n.767G>T n.676G>T c.69G>T c.4264G>T (p.Ala1422Ser) c.3949G>T (p.Ala1317Ser) c.1846G>T (p.Ala616Ser) c.4288G>T (p.Ala1430Ser) c.4279G>T (p.Ala1427Ser) c.4270G>T (p.Ala1424Ser) c.2608G>T (p.Ala870Ser) | gnomAD v4 |
X | g.108686088C>A | CA413853672 | COL4A5 | c.4274C>A (p.Ala1425Glu) c.4256C>A (p.Ala1419Glu) n.768C>A n.677C>A c.70C>A c.4265C>A (p.Ala1422Glu) c.3950C>A (p.Ala1317Glu) c.1847C>A (p.Ala616Glu) c.4289C>A (p.Ala1430Glu) c.4280C>A (p.Ala1427Glu) c.4271C>A (p.Ala1424Glu) c.2609C>A (p.Ala870Glu) | |
X | g.108686088C>G | CA413853674 | COL4A5 | c.4274C>G (p.Ala1425Gly) c.4256C>G (p.Ala1419Gly) n.768C>G n.677C>G c.70C>G c.4265C>G (p.Ala1422Gly) c.3950C>G (p.Ala1317Gly) c.1847C>G (p.Ala616Gly) c.4289C>G (p.Ala1430Gly) c.4280C>G (p.Ala1427Gly) c.4271C>G (p.Ala1424Gly) c.2609C>G (p.Ala870Gly) | |
X | g.108686088C>T | CA413853676 | COL4A5 | c.4274C>T (p.Ala1425Val) c.4256C>T (p.Ala1419Val) n.768C>T n.677C>T c.70C>T c.4265C>T (p.Ala1422Val) c.3950C>T (p.Ala1317Val) c.1847C>T (p.Ala616Val) c.4289C>T (p.Ala1430Val) c.4280C>T (p.Ala1427Val) c.4271C>T (p.Ala1424Val) c.2609C>T (p.Ala870Val) | |
X | g.108686089A>C | CA517924137 | COL4A5 | c.4275A>C (p.Ala1425=) c.4257A>C (p.Ala1419=) n.769A>C n.678A>C c.71A>C c.4266A>C (p.Ala1422=) c.3951A>C (p.Ala1317=) c.1848A>C (p.Ala616=) c.4290A>C (p.Ala1430=) c.4281A>C (p.Ala1427=) c.4272A>C (p.Ala1424=) c.2610A>C (p.Ala870=) | |
X | g.108686089A>G | CA517924138 | COL4A5 | c.4275A>G (p.Ala1425=) c.4257A>G (p.Ala1419=) n.769A>G n.678A>G c.71A>G c.4266A>G (p.Ala1422=) c.3951A>G (p.Ala1317=) c.1848A>G (p.Ala616=) c.4290A>G (p.Ala1430=) c.4281A>G (p.Ala1427=) c.4272A>G (p.Ala1424=) c.2610A>G (p.Ala870=) | gnomAD v4 |
X | g.108686089A>T | CA517924139 | COL4A5 | c.4275A>T (p.Ala1425=) c.4257A>T (p.Ala1419=) n.769A>T n.678A>T c.71A>T c.4266A>T (p.Ala1422=) c.3951A>T (p.Ala1317=) c.1848A>T (p.Ala616=) c.4290A>T (p.Ala1430=) c.4281A>T (p.Ala1427=) c.4272A>T (p.Ala1424=) c.2610A>T (p.Ala870=) | |
X | g.108686090G>A | CA413853679 | COL4A5 | c.4276G>A (p.Gly1426Arg) c.4258G>A (p.Gly1420Arg) n.770G>A n.679G>A c.72G>A c.4267G>A (p.Gly1423Arg) c.3952G>A (p.Gly1318Arg) c.1849G>A (p.Gly617Arg) c.4291G>A (p.Gly1431Arg) c.4282G>A (p.Gly1428Arg) c.4273G>A (p.Gly1425Arg) c.2611G>A (p.Gly871Arg) | |
X | g.108686090G>C | CA413853681 | COL4A5 | c.4276G>C (p.Gly1426Arg) c.4258G>C (p.Gly1420Arg) n.770G>C n.679G>C c.72G>C c.4267G>C (p.Gly1423Arg) c.3952G>C (p.Gly1318Arg) c.1849G>C (p.Gly617Arg) c.4291G>C (p.Gly1431Arg) c.4282G>C (p.Gly1428Arg) c.4273G>C (p.Gly1425Arg) c.2611G>C (p.Gly871Arg) | |
X | g.108686090G>T | CA413853685 | COL4A5 | c.4276G>T (p.Gly1426Ter) c.4258G>T (p.Gly1420Ter) n.770G>T n.679G>T c.72G>T c.4267G>T (p.Gly1423Ter) c.3952G>T (p.Gly1318Ter) c.1849G>T (p.Gly617Ter) c.4291G>T (p.Gly1431Ter) c.4282G>T (p.Gly1428Ter) c.4273G>T (p.Gly1425Ter) c.2611G>T (p.Gly871Ter) | |
X | g.108686091G>A | CA413853688 | COL4A5 | c.4277G>A (p.Gly1426Glu) c.4259G>A (p.Gly1420Glu) n.771G>A n.680G>A c.73G>A c.4268G>A (p.Gly1423Glu) c.3953G>A (p.Gly1318Glu) c.1850G>A (p.Gly617Glu) c.4292G>A (p.Gly1431Glu) c.4283G>A (p.Gly1428Glu) c.4274G>A (p.Gly1425Glu) c.2612G>A (p.Gly871Glu) | |
X | g.108686091G>C | CA413853689 | COL4A5 | c.4277G>C (p.Gly1426Ala) c.4259G>C (p.Gly1420Ala) n.771G>C n.680G>C c.73G>C c.4268G>C (p.Gly1423Ala) c.3953G>C (p.Gly1318Ala) c.1850G>C (p.Gly617Ala) c.4292G>C (p.Gly1431Ala) c.4283G>C (p.Gly1428Ala) c.4274G>C (p.Gly1425Ala) c.2612G>C (p.Gly871Ala) | |
X | g.108686091G>T | CA413853692 | COL4A5 | c.4277G>T (p.Gly1426Val) c.4259G>T (p.Gly1420Val) n.771G>T n.680G>T c.73G>T c.4268G>T (p.Gly1423Val) c.3953G>T (p.Gly1318Val) c.1850G>T (p.Gly617Val) c.4292G>T (p.Gly1431Val) c.4283G>T (p.Gly1428Val) c.4274G>T (p.Gly1425Val) c.2612G>T (p.Gly871Val) | |
X | g.108686092A>C | CA517924147 | COL4A5 | c.4278A>C (p.Gly1426=) c.4260A>C (p.Gly1420=) n.772A>C n.681A>C c.74A>C c.4269A>C (p.Gly1423=) c.3954A>C (p.Gly1318=) c.1851A>C (p.Gly617=) c.4293A>C (p.Gly1431=) c.4284A>C (p.Gly1428=) c.4275A>C (p.Gly1425=) c.2613A>C (p.Gly871=) | |
X | g.108686092A>G | CA517924148 | COL4A5 | c.4278A>G (p.Gly1426=) c.4260A>G (p.Gly1420=) n.772A>G n.681A>G c.74A>G c.4269A>G (p.Gly1423=) c.3954A>G (p.Gly1318=) c.1851A>G (p.Gly617=) c.4293A>G (p.Gly1431=) c.4284A>G (p.Gly1428=) c.4275A>G (p.Gly1425=) c.2613A>G (p.Gly871=) | |
X | g.108686092A>T | CA517924149 | COL4A5 | c.4278A>T (p.Gly1426=) c.4260A>T (p.Gly1420=) n.772A>T n.681A>T c.74A>T c.4269A>T (p.Gly1423=) c.3954A>T (p.Gly1318=) c.1851A>T (p.Gly617=) c.4293A>T (p.Gly1431=) c.4284A>T (p.Gly1428=) c.4275A>T (p.Gly1425=) c.2613A>T (p.Gly871=) | |
X | g.108686093G>A | CA413853696 | COL4A5 | c.4279G>A (p.Gly1427Arg) c.4261G>A (p.Gly1421Arg) n.773G>A n.682G>A c.75G>A c.4270G>A (p.Gly1424Arg) c.3955G>A (p.Gly1319Arg) c.1852G>A (p.Gly618Arg) c.4294G>A (p.Gly1432Arg) c.4285G>A (p.Gly1429Arg) c.4276G>A (p.Gly1426Arg) c.2614G>A (p.Gly872Arg) | |
X | g.108686093G>C | CA413853697 | COL4A5 | c.4279G>C (p.Gly1427Arg) c.4261G>C (p.Gly1421Arg) n.773G>C n.682G>C c.75G>C c.4270G>C (p.Gly1424Arg) c.3955G>C (p.Gly1319Arg) c.1852G>C (p.Gly618Arg) c.4294G>C (p.Gly1432Arg) c.4285G>C (p.Gly1429Arg) c.4276G>C (p.Gly1426Arg) c.2614G>C (p.Gly872Arg) | dbSNP |
X | g.108686093G= | CA2450718773 | COL4A5 | c.4279G= (p.Gly1427=) c.4261G= (p.Gly1421=) n.773G= n.682G= c.75G= c.4270G= (p.Gly1424=) c.3955G= (p.Gly1319=) c.1852G= (p.Gly618=) c.4294G= (p.Gly1432=) c.4285G= (p.Gly1429=) c.4276G= (p.Gly1426=) c.2614G= (p.Gly872=) | |
X | g.108686093G>T | CA259010 | COL4A5 | c.4279G>T (p.Gly1427Trp) c.4261G>T (p.Gly1421Trp) n.773G>T n.682G>T c.75G>T c.4270G>T (p.Gly1424Trp) c.3955G>T (p.Gly1319Trp) c.1852G>T (p.Gly618Trp) c.4294G>T (p.Gly1432Trp) c.4285G>T (p.Gly1429Trp) c.4276G>T (p.Gly1426Trp) c.2614G>T (p.Gly872Trp) | dbSNP |
X | g.108686094G>A | CA413853703 | COL4A5 | c.4280G>A (p.Gly1427Glu) c.4262G>A (p.Gly1421Glu) n.774G>A n.683G>A c.76G>A c.4271G>A (p.Gly1424Glu) c.3956G>A (p.Gly1319Glu) c.1853G>A (p.Gly618Glu) c.4295G>A (p.Gly1432Glu) c.4286G>A (p.Gly1429Glu) c.4277G>A (p.Gly1426Glu) c.2615G>A (p.Gly872Glu) | |
X | g.108686094G>C | CA413853709 | COL4A5 | c.4280G>C (p.Gly1427Ala) c.4262G>C (p.Gly1421Ala) n.774G>C n.683G>C c.76G>C c.4271G>C (p.Gly1424Ala) c.3956G>C (p.Gly1319Ala) c.1853G>C (p.Gly618Ala) c.4295G>C (p.Gly1432Ala) c.4286G>C (p.Gly1429Ala) c.4277G>C (p.Gly1426Ala) c.2615G>C (p.Gly872Ala) | |
X | g.108686094G>T | CA413853706 | COL4A5 | c.4280G>T (p.Gly1427Val) c.4262G>T (p.Gly1421Val) n.774G>T n.683G>T c.76G>T c.4271G>T (p.Gly1424Val) c.3956G>T (p.Gly1319Val) c.1853G>T (p.Gly618Val) c.4295G>T (p.Gly1432Val) c.4286G>T (p.Gly1429Val) c.4277G>T (p.Gly1426Val) c.2615G>T (p.Gly872Val) | COSMIC |
X | g.108686095G>A | CA334058364 | COL4A5 | c.4281G>A (p.Gly1427=) c.4263G>A (p.Gly1421=) n.775G>A n.684G>A c.77G>A c.4272G>A (p.Gly1424=) c.3957G>A (p.Gly1319=) c.1854G>A (p.Gly618=) c.4296G>A (p.Gly1432=) c.4287G>A (p.Gly1429=) c.4278G>A (p.Gly1426=) c.2616G>A (p.Gly872=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686095G>C | CA517924154 | COL4A5 | c.4281G>C (p.Gly1427=) c.4263G>C (p.Gly1421=) n.775G>C n.684G>C c.77G>C c.4272G>C (p.Gly1424=) c.3957G>C (p.Gly1319=) c.1854G>C (p.Gly618=) c.4296G>C (p.Gly1432=) c.4287G>C (p.Gly1429=) c.4278G>C (p.Gly1426=) c.2616G>C (p.Gly872=) | |
X | g.108686095G= | CA2450718774 | COL4A5 | c.4281G= (p.Gly1427=) c.4263G= (p.Gly1421=) n.775G= n.684G= c.77G= c.4272G= (p.Gly1424=) c.3957G= (p.Gly1319=) c.1854G= (p.Gly618=) c.4296G= (p.Gly1432=) c.4287G= (p.Gly1429=) c.4278G= (p.Gly1426=) c.2616G= (p.Gly872=) | |
X | g.108686095G>T | CA517924156 | COL4A5 | c.4281G>T (p.Gly1427=) c.4263G>T (p.Gly1421=) n.775G>T n.684G>T c.77G>T c.4272G>T (p.Gly1424=) c.3957G>T (p.Gly1319=) c.1854G>T (p.Gly618=) c.4296G>T (p.Gly1432=) c.4287G>T (p.Gly1429=) c.4278G>T (p.Gly1426=) c.2616G>T (p.Gly872=) | |
X | g.108686096C>A | CA413853712 | COL4A5 | c.4282C>A (p.Arg1428Ser) c.4264C>A (p.Arg1422Ser) n.776C>A n.685C>A c.78C>A c.4273C>A (p.Arg1425Ser) c.3958C>A (p.Arg1320Ser) c.1855C>A (p.Arg619Ser) c.4297C>A (p.Arg1433Ser) c.4288C>A (p.Arg1430Ser) c.4279C>A (p.Arg1427Ser) c.2617C>A (p.Arg873Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686096C= | CA2450718775 | COL4A5 | c.4282C= (p.Arg1428=) c.4264C= (p.Arg1422=) n.776C= n.685C= c.78C= c.4273C= (p.Arg1425=) c.3958C= (p.Arg1320=) c.1855C= (p.Arg619=) c.4297C= (p.Arg1433=) c.4288C= (p.Arg1430=) c.4279C= (p.Arg1427=) c.2617C= (p.Arg873=) | |
X | g.108686096C>G | CA413853715 | COL4A5 | c.4282C>G (p.Arg1428Gly) c.4264C>G (p.Arg1422Gly) n.776C>G n.685C>G c.78C>G c.4273C>G (p.Arg1425Gly) c.3958C>G (p.Arg1320Gly) c.1855C>G (p.Arg619Gly) c.4297C>G (p.Arg1433Gly) c.4288C>G (p.Arg1430Gly) c.4279C>G (p.Arg1427Gly) c.2617C>G (p.Arg873Gly) | |
X | g.108686096C>T | CA033364 | COL4A5 | c.4282C>T (p.Arg1428Cys) c.4264C>T (p.Arg1422Cys) n.776C>T n.685C>T c.78C>T c.4273C>T (p.Arg1425Cys) c.3958C>T (p.Arg1320Cys) c.1855C>T (p.Arg619Cys) c.4297C>T (p.Arg1433Cys) c.4288C>T (p.Arg1430Cys) c.4279C>T (p.Arg1427Cys) c.2617C>T (p.Arg873Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686097G>A | CA413853719 | COL4A5 | c.4283G>A (p.Arg1428His) c.4265G>A (p.Arg1422His) n.777G>A n.686G>A c.79G>A c.4274G>A (p.Arg1425His) c.3959G>A (p.Arg1320His) c.1856G>A (p.Arg619His) c.4298G>A (p.Arg1433His) c.4289G>A (p.Arg1430His) c.4280G>A (p.Arg1427His) c.2618G>A (p.Arg873His) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108686097G>C | CA413853721 | COL4A5 | c.4283G>C (p.Arg1428Pro) c.4265G>C (p.Arg1422Pro) n.777G>C n.686G>C c.79G>C c.4274G>C (p.Arg1425Pro) c.3959G>C (p.Arg1320Pro) c.1856G>C (p.Arg619Pro) c.4298G>C (p.Arg1433Pro) c.4289G>C (p.Arg1430Pro) c.4280G>C (p.Arg1427Pro) c.2618G>C (p.Arg873Pro) | |
X | g.108686097G= | CA2450718776 | COL4A5 | c.4283G= (p.Arg1428=) c.4265G= (p.Arg1422=) n.777G= n.686G= c.79G= c.4274G= (p.Arg1425=) c.3959G= (p.Arg1320=) c.1856G= (p.Arg619=) c.4298G= (p.Arg1433=) c.4289G= (p.Arg1430=) c.4280G= (p.Arg1427=) c.2618G= (p.Arg873=) | |
X | g.108686097G>T | CA413853722 | COL4A5 | c.4283G>T (p.Arg1428Leu) c.4265G>T (p.Arg1422Leu) n.777G>T n.686G>T c.79G>T c.4274G>T (p.Arg1425Leu) c.3959G>T (p.Arg1320Leu) c.1856G>T (p.Arg619Leu) c.4298G>T (p.Arg1433Leu) c.4289G>T (p.Arg1430Leu) c.4280G>T (p.Arg1427Leu) c.2618G>T (p.Arg873Leu) | gnomAD v4 |
X | g.108686098C>A | CA517924166 | COL4A5 | c.4284C>A (p.Arg1428=) c.4266C>A (p.Arg1422=) n.778C>A n.687C>A c.80C>A c.4275C>A (p.Arg1425=) c.3960C>A (p.Arg1320=) c.1857C>A (p.Arg619=) c.4299C>A (p.Arg1433=) c.4290C>A (p.Arg1430=) c.4281C>A (p.Arg1427=) c.2619C>A (p.Arg873=) | |
X | g.108686098C>G | CA517924164 | COL4A5 | c.4284C>G (p.Arg1428=) c.4266C>G (p.Arg1422=) n.778C>G n.687C>G c.80C>G c.4275C>G (p.Arg1425=) c.3960C>G (p.Arg1320=) c.1857C>G (p.Arg619=) c.4299C>G (p.Arg1433=) c.4290C>G (p.Arg1430=) c.4281C>G (p.Arg1427=) c.2619C>G (p.Arg873=) | |
X | g.108686098C>T | CA517924162 | COL4A5 | c.4284C>T (p.Arg1428=) c.4266C>T (p.Arg1422=) n.778C>T n.687C>T c.80C>T c.4275C>T (p.Arg1425=) c.3960C>T (p.Arg1320=) c.1857C>T (p.Arg619=) c.4299C>T (p.Arg1433=) c.4290C>T (p.Arg1430=) c.4281C>T (p.Arg1427=) c.2619C>T (p.Arg873=) | ClinVar |
X | g.108686099A>C | CA413853725 | COL4A5 | c.4285A>C (p.Lys1429Gln) c.4267A>C (p.Lys1423Gln) n.779A>C n.688A>C c.81A>C c.4276A>C (p.Lys1426Gln) c.3961A>C (p.Lys1321Gln) c.1858A>C (p.Lys620Gln) c.4300A>C (p.Lys1434Gln) c.4291A>C (p.Lys1431Gln) c.4282A>C (p.Lys1428Gln) c.2620A>C (p.Lys874Gln) | |
X | g.108686099A>G | CA413853727 | COL4A5 | c.4285A>G (p.Lys1429Glu) c.4267A>G (p.Lys1423Glu) n.779A>G n.688A>G c.81A>G c.4276A>G (p.Lys1426Glu) c.3961A>G (p.Lys1321Glu) c.1858A>G (p.Lys620Glu) c.4300A>G (p.Lys1434Glu) c.4291A>G (p.Lys1431Glu) c.4282A>G (p.Lys1428Glu) c.2620A>G (p.Lys874Glu) | |
X | g.108686099A>T | CA413853728 | COL4A5 | c.4285A>T (p.Lys1429Ter) c.4267A>T (p.Lys1423Ter) n.779A>T n.688A>T c.81A>T c.4276A>T (p.Lys1426Ter) c.3961A>T (p.Lys1321Ter) c.1858A>T (p.Lys620Ter) c.4300A>T (p.Lys1434Ter) c.4291A>T (p.Lys1431Ter) c.4282A>T (p.Lys1428Ter) c.2620A>T (p.Lys874Ter) | |
X | g.108686100_108686101dup | CA2739290544 | COL4A5 | c.4286_4287dup (p.Gly1430LysfsTer?) c.4268_4269dup (p.Gly1424LysfsTer?) n.780_781dup n.689_690dup c.82_83dup c.4277_4278dup (p.Gly1427LysfsTer?) c.3962_3963dup (p.Gly1322LysfsTer?) c.1859_1860dup (p.Gly621LysfsTer?) c.4301_4302dup (p.Gly1435LysfsTer?) c.4292_4293dup (p.Gly1432LysfsTer?) c.4283_4284dup (p.Gly1429LysfsTer?) c.2621_2622dup (p.Gly875LysfsTer?) | |
X | g.108686100A>C | CA413853732 | COL4A5 | c.4286A>C (p.Lys1429Thr) c.4268A>C (p.Lys1423Thr) n.780A>C n.689A>C c.82A>C c.4277A>C (p.Lys1426Thr) c.3962A>C (p.Lys1321Thr) c.1859A>C (p.Lys620Thr) c.4301A>C (p.Lys1434Thr) c.4292A>C (p.Lys1431Thr) c.4283A>C (p.Lys1428Thr) c.2621A>C (p.Lys874Thr) | |
X | g.108686100A>G | CA413853733 | COL4A5 | c.4286A>G (p.Lys1429Arg) c.4268A>G (p.Lys1423Arg) n.780A>G n.689A>G c.82A>G c.4277A>G (p.Lys1426Arg) c.3962A>G (p.Lys1321Arg) c.1859A>G (p.Lys620Arg) c.4301A>G (p.Lys1434Arg) c.4292A>G (p.Lys1431Arg) c.4283A>G (p.Lys1428Arg) c.2621A>G (p.Lys874Arg) | gnomAD v4 |
X | g.108686100A>T | CA413853730 | COL4A5 | c.4286A>T (p.Lys1429Ile) c.4268A>T (p.Lys1423Ile) n.780A>T n.689A>T c.82A>T c.4277A>T (p.Lys1426Ile) c.3962A>T (p.Lys1321Ile) c.1859A>T (p.Lys620Ile) c.4301A>T (p.Lys1434Ile) c.4292A>T (p.Lys1431Ile) c.4283A>T (p.Lys1428Ile) c.2621A>T (p.Lys874Ile) | |
X | g.108686101A= | CA2450718777 | COL4A5 | c.4287A= (p.Lys1429=) c.4269A= (p.Lys1423=) n.781A= n.690A= c.83A= c.4278A= (p.Lys1426=) c.3963A= (p.Lys1321=) c.1860A= (p.Lys620=) c.4302A= (p.Lys1434=) c.4293A= (p.Lys1431=) c.4284A= (p.Lys1428=) c.2622A= (p.Lys874=) | |
X | g.108686101A>C | CA413853735 | COL4A5 | c.4287A>C (p.Lys1429Asn) c.4269A>C (p.Lys1423Asn) n.781A>C n.690A>C c.83A>C c.4278A>C (p.Lys1426Asn) c.3963A>C (p.Lys1321Asn) c.1860A>C (p.Lys620Asn) c.4302A>C (p.Lys1434Asn) c.4293A>C (p.Lys1431Asn) c.4284A>C (p.Lys1428Asn) c.2622A>C (p.Lys874Asn) | |
X | g.108686101A>G | CA10489331 | COL4A5 | c.4287A>G (p.Lys1429=) c.4269A>G (p.Lys1423=) n.781A>G n.690A>G c.83A>G c.4278A>G (p.Lys1426=) c.3963A>G (p.Lys1321=) c.1860A>G (p.Lys620=) c.4302A>G (p.Lys1434=) c.4293A>G (p.Lys1431=) c.4284A>G (p.Lys1428=) c.2622A>G (p.Lys874=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108686101A>T | CA413853738 | COL4A5 | c.4287A>T (p.Lys1429Asn) c.4269A>T (p.Lys1423Asn) n.781A>T n.690A>T c.83A>T c.4278A>T (p.Lys1426Asn) c.3963A>T (p.Lys1321Asn) c.1860A>T (p.Lys620Asn) c.4302A>T (p.Lys1434Asn) c.4293A>T (p.Lys1431Asn) c.4284A>T (p.Lys1428Asn) c.2622A>T (p.Lys874Asn) | |
X | g.108686102G>A | CA413853740 | COL4A5 | c.4288G>A (p.Gly1430Arg) c.4270G>A (p.Gly1424Arg) n.782G>A n.691G>A c.84G>A c.4279G>A (p.Gly1427Arg) c.3964G>A (p.Gly1322Arg) c.1861G>A (p.Gly621Arg) c.4303G>A (p.Gly1435Arg) c.4294G>A (p.Gly1432Arg) c.4285G>A (p.Gly1429Arg) c.2623G>A (p.Gly875Arg) | |
X | g.108686102G>C | CA413853742 | COL4A5 | c.4288G>C (p.Gly1430Arg) c.4270G>C (p.Gly1424Arg) n.782G>C n.691G>C c.84G>C c.4279G>C (p.Gly1427Arg) c.3964G>C (p.Gly1322Arg) c.1861G>C (p.Gly621Arg) c.4303G>C (p.Gly1435Arg) c.4294G>C (p.Gly1432Arg) c.4285G>C (p.Gly1429Arg) c.2623G>C (p.Gly875Arg) | |
X | g.108686102G>T | CA413853744 | COL4A5 | c.4288G>T (p.Gly1430Ter) c.4270G>T (p.Gly1424Ter) n.782G>T n.691G>T c.84G>T c.4279G>T (p.Gly1427Ter) c.3964G>T (p.Gly1322Ter) c.1861G>T (p.Gly621Ter) c.4303G>T (p.Gly1435Ter) c.4294G>T (p.Gly1432Ter) c.4285G>T (p.Gly1429Ter) c.2623G>T (p.Gly875Ter) | |
X | g.108686103G>A | CA261093 | COL4A5 | c.4289G>A (p.Gly1430Glu) c.4271G>A (p.Gly1424Glu) n.783G>A n.692G>A c.85G>A c.4280G>A (p.Gly1427Glu) c.3965G>A (p.Gly1322Glu) c.1862G>A (p.Gly621Glu) c.4304G>A (p.Gly1435Glu) c.4295G>A (p.Gly1432Glu) c.4286G>A (p.Gly1429Glu) c.2624G>A (p.Gly875Glu) | dbSNP |
X | g.108686103G>C | CA413853747 | COL4A5 | c.4289G>C (p.Gly1430Ala) c.4271G>C (p.Gly1424Ala) n.783G>C n.692G>C c.85G>C c.4280G>C (p.Gly1427Ala) c.3965G>C (p.Gly1322Ala) c.1862G>C (p.Gly621Ala) c.4304G>C (p.Gly1435Ala) c.4295G>C (p.Gly1432Ala) c.4286G>C (p.Gly1429Ala) c.2624G>C (p.Gly875Ala) | |
X | g.108686103G= | CA2450718778 | COL4A5 | c.4289G= (p.Gly1430=) c.4271G= (p.Gly1424=) n.783G= n.692G= c.85G= c.4280G= (p.Gly1427=) c.3965G= (p.Gly1322=) c.1862G= (p.Gly621=) c.4304G= (p.Gly1435=) c.4295G= (p.Gly1432=) c.4286G= (p.Gly1429=) c.2624G= (p.Gly875=) | |
X | g.108686103G>T | CA413853748 | COL4A5 | c.4289G>T (p.Gly1430Val) c.4271G>T (p.Gly1424Val) n.783G>T n.692G>T c.85G>T c.4280G>T (p.Gly1427Val) c.3965G>T (p.Gly1322Val) c.1862G>T (p.Gly621Val) c.4304G>T (p.Gly1435Val) c.4295G>T (p.Gly1432Val) c.4286G>T (p.Gly1429Val) c.2624G>T (p.Gly875Val) | |
X | g.108686104A>C | CA517924174 | COL4A5 | c.4290A>C (p.Gly1430=) c.4272A>C (p.Gly1424=) n.784A>C n.693A>C c.86A>C c.4281A>C (p.Gly1427=) c.3966A>C (p.Gly1322=) c.1863A>C (p.Gly621=) c.4305A>C (p.Gly1435=) c.4296A>C (p.Gly1432=) c.4287A>C (p.Gly1429=) c.2625A>C (p.Gly875=) | |
X | g.108686104A>G | CA517924176 | COL4A5 | c.4290A>G (p.Gly1430=) c.4272A>G (p.Gly1424=) n.784A>G n.693A>G c.86A>G c.4281A>G (p.Gly1427=) c.3966A>G (p.Gly1322=) c.1863A>G (p.Gly621=) c.4305A>G (p.Gly1435=) c.4296A>G (p.Gly1432=) c.4287A>G (p.Gly1429=) c.2625A>G (p.Gly875=) | |
X | g.108686104A>T | CA517924175 | COL4A5 | c.4290A>T (p.Gly1430=) c.4272A>T (p.Gly1424=) n.784A>T n.693A>T c.86A>T c.4281A>T (p.Gly1427=) c.3966A>T (p.Gly1322=) c.1863A>T (p.Gly621=) c.4305A>T (p.Gly1435=) c.4296A>T (p.Gly1432=) c.4287A>T (p.Gly1429=) c.2625A>T (p.Gly875=) | |
X | g.108686104_108686111delinsAGACCCAG | CA2450718779 | COL4A5 | c.4290_4297delinsAGACCCAG (p.Gly1430=) c.4272_4279delinsAGACCCAG (p.Gly1424=) n.784_791delinsAGACCCAG n.693_700delinsAGACCCAG c.86_93delinsAGACCCAG c.4281_4288delinsAGACCCAG (p.Gly1427=) c.3966_3973delinsAGACCCAG (p.Gly1322=) c.1863_1870delinsAGACCCAG (p.Gly621=) c.4305_4312delinsAGACCCAG (p.Gly1435=) c.4296_4303delinsAGACCCAG (p.Gly1432=) c.4287_4294delinsAGACCCAG (p.Gly1429=) c.2625_2632delinsAGACCCAG (p.Gly875=) | |
X | g.108686105G>A | CA413853751 | COL4A5 | c.4291G>A (p.Asp1431Asn) c.4273G>A (p.Asp1425Asn) n.785G>A n.694G>A c.87G>A c.4282G>A (p.Asp1428Asn) c.3967G>A (p.Asp1323Asn) c.1864G>A (p.Asp622Asn) c.4306G>A (p.Asp1436Asn) c.4297G>A (p.Asp1433Asn) c.4288G>A (p.Asp1430Asn) c.2626G>A (p.Asp876Asn) | |
X | g.108686105G>C | CA413853753 | COL4A5 | c.4291G>C (p.Asp1431His) c.4273G>C (p.Asp1425His) n.785G>C n.694G>C c.87G>C c.4282G>C (p.Asp1428His) c.3967G>C (p.Asp1323His) c.1864G>C (p.Asp622His) c.4306G>C (p.Asp1436His) c.4297G>C (p.Asp1433His) c.4288G>C (p.Asp1430His) c.2626G>C (p.Asp876His) | |
X | g.108686105G>T | CA413853754 | COL4A5 | c.4291G>T (p.Asp1431Tyr) c.4273G>T (p.Asp1425Tyr) n.785G>T n.694G>T c.87G>T c.4282G>T (p.Asp1428Tyr) c.3967G>T (p.Asp1323Tyr) c.1864G>T (p.Asp622Tyr) c.4306G>T (p.Asp1436Tyr) c.4297G>T (p.Asp1433Tyr) c.4288G>T (p.Asp1430Tyr) c.2626G>T (p.Asp876Tyr) | |
X | g.108686105_108686111delinsCT | CA2450718780 | COL4A5 | c.4291_4297delinsCT (p.Asp1431LeufsTer?) c.4273_4279delinsCT (p.Asp1425LeufsTer?) n.785_791delinsCT n.694_700delinsCT c.87_93delinsCT c.4282_4288delinsCT (p.Asp1428LeufsTer?) c.3967_3973delinsCT (p.Asp1323LeufsTer?) c.1864_1870delinsCT (p.Asp622LeufsTer?) c.4306_4312delinsCT (p.Asp1436LeufsTer?) c.4297_4303delinsCT (p.Asp1433LeufsTer?) c.4288_4294delinsCT (p.Asp1430LeufsTer?) c.2626_2632delinsCT (p.Asp876LeufsTer?) | ClinVar dbSNP |
X | g.108686106A= | CA2450718781 | COL4A5 | c.4292A= (p.Asp1431=) c.4274A= (p.Asp1425=) n.786A= n.695A= c.88A= c.4283A= (p.Asp1428=) c.3968A= (p.Asp1323=) c.1865A= (p.Asp622=) c.4307A= (p.Asp1436=) c.4298A= (p.Asp1433=) c.4289A= (p.Asp1430=) c.2627A= (p.Asp876=) | |
X | g.108686106A>C | CA413853758 | COL4A5 | c.4292A>C (p.Asp1431Ala) c.4274A>C (p.Asp1425Ala) n.786A>C n.695A>C c.88A>C c.4283A>C (p.Asp1428Ala) c.3968A>C (p.Asp1323Ala) c.1865A>C (p.Asp622Ala) c.4307A>C (p.Asp1436Ala) c.4298A>C (p.Asp1433Ala) c.4289A>C (p.Asp1430Ala) c.2627A>C (p.Asp876Ala) | |
X | g.108686106A>G | CA413853760 | COL4A5 | c.4292A>G (p.Asp1431Gly) c.4274A>G (p.Asp1425Gly) n.786A>G n.695A>G c.88A>G c.4283A>G (p.Asp1428Gly) c.3968A>G (p.Asp1323Gly) c.1865A>G (p.Asp622Gly) c.4307A>G (p.Asp1436Gly) c.4298A>G (p.Asp1433Gly) c.4289A>G (p.Asp1430Gly) c.2627A>G (p.Asp876Gly) | |
X | g.108686106A>T | CA10489332 | COL4A5 | c.4292A>T (p.Asp1431Val) c.4274A>T (p.Asp1425Val) n.786A>T n.695A>T c.88A>T c.4283A>T (p.Asp1428Val) c.3968A>T (p.Asp1323Val) c.1865A>T (p.Asp622Val) c.4307A>T (p.Asp1436Val) c.4298A>T (p.Asp1433Val) c.4289A>T (p.Asp1430Val) c.2627A>T (p.Asp876Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686107C>A | CA413853763 | COL4A5 | c.4293C>A (p.Asp1431Glu) c.4275C>A (p.Asp1425Glu) n.787C>A n.696C>A c.89C>A c.4284C>A (p.Asp1428Glu) c.3969C>A (p.Asp1323Glu) c.1866C>A (p.Asp622Glu) c.4308C>A (p.Asp1436Glu) c.4299C>A (p.Asp1433Glu) c.4290C>A (p.Asp1430Glu) c.2628C>A (p.Asp876Glu) | |
X | g.108686107C= | CA2450718782 | COL4A5 | c.4293C= (p.Asp1431=) c.4275C= (p.Asp1425=) n.787C= n.696C= c.89C= c.4284C= (p.Asp1428=) c.3969C= (p.Asp1323=) c.1866C= (p.Asp622=) c.4308C= (p.Asp1436=) c.4299C= (p.Asp1433=) c.4290C= (p.Asp1430=) c.2628C= (p.Asp876=) | |
X | g.108686107C>G | CA413853764 | COL4A5 | c.4293C>G (p.Asp1431Glu) c.4275C>G (p.Asp1425Glu) n.787C>G n.696C>G c.89C>G c.4284C>G (p.Asp1428Glu) c.3969C>G (p.Asp1323Glu) c.1866C>G (p.Asp622Glu) c.4308C>G (p.Asp1436Glu) c.4299C>G (p.Asp1433Glu) c.4290C>G (p.Asp1430Glu) c.2628C>G (p.Asp876Glu) | COSMIC COSMIC |
X | g.108686107C>T | CA259012 | COL4A5 | c.4293C>T (p.Asp1431=) c.4275C>T (p.Asp1425=) n.787C>T n.696C>T c.89C>T c.4284C>T (p.Asp1428=) c.3969C>T (p.Asp1323=) c.1866C>T (p.Asp622=) c.4308C>T (p.Asp1436=) c.4299C>T (p.Asp1433=) c.4290C>T (p.Asp1430=) c.2628C>T (p.Asp876=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686109del | CA2695235232 | COL4A5 | c.4295del (p.Pro1432GlnfsTer?) c.4277del (p.Pro1426GlnfsTer?) n.789del n.698del c.91del c.4286del (p.Pro1429GlnfsTer?) c.3971del (p.Pro1324GlnfsTer?) c.1868del (p.Pro623GlnfsTer?) c.4310del (p.Pro1437GlnfsTer?) c.4301del (p.Pro1434GlnfsTer?) c.4292del (p.Pro1431GlnfsTer?) c.2630del (p.Pro877GlnfsTer?) | |
X | g.108686108C>A | CA413853767 | COL4A5 | c.4294C>A (p.Pro1432Thr) c.4276C>A (p.Pro1426Thr) n.788C>A n.697C>A c.90C>A c.4285C>A (p.Pro1429Thr) c.3970C>A (p.Pro1324Thr) c.1867C>A (p.Pro623Thr) c.4309C>A (p.Pro1437Thr) c.4300C>A (p.Pro1434Thr) c.4291C>A (p.Pro1431Thr) c.2629C>A (p.Pro877Thr) | gnomAD v4 |
X | g.108686108C>G | CA413853768 | COL4A5 | c.4294C>G (p.Pro1432Ala) c.4276C>G (p.Pro1426Ala) n.788C>G n.697C>G c.90C>G c.4285C>G (p.Pro1429Ala) c.3970C>G (p.Pro1324Ala) c.1867C>G (p.Pro623Ala) c.4309C>G (p.Pro1437Ala) c.4300C>G (p.Pro1434Ala) c.4291C>G (p.Pro1431Ala) c.2629C>G (p.Pro877Ala) | gnomAD v4 |
X | g.108686108C>T | CA413853769 | COL4A5 | c.4294C>T (p.Pro1432Ser) c.4276C>T (p.Pro1426Ser) n.788C>T n.697C>T c.90C>T c.4285C>T (p.Pro1429Ser) c.3970C>T (p.Pro1324Ser) c.1867C>T (p.Pro623Ser) c.4309C>T (p.Pro1437Ser) c.4300C>T (p.Pro1434Ser) c.4291C>T (p.Pro1431Ser) c.2629C>T (p.Pro877Ser) | |
X | g.108686109C>A | CA413853772 | COL4A5 | c.4295C>A (p.Pro1432Gln) c.4277C>A (p.Pro1426Gln) n.789C>A n.698C>A c.91C>A c.4286C>A (p.Pro1429Gln) c.3971C>A (p.Pro1324Gln) c.1868C>A (p.Pro623Gln) c.4310C>A (p.Pro1437Gln) c.4301C>A (p.Pro1434Gln) c.4292C>A (p.Pro1431Gln) c.2630C>A (p.Pro877Gln) | |
X | g.108686109C>G | CA413853775 | COL4A5 | c.4295C>G (p.Pro1432Arg) c.4277C>G (p.Pro1426Arg) n.789C>G n.698C>G c.91C>G c.4286C>G (p.Pro1429Arg) c.3971C>G (p.Pro1324Arg) c.1868C>G (p.Pro623Arg) c.4310C>G (p.Pro1437Arg) c.4301C>G (p.Pro1434Arg) c.4292C>G (p.Pro1431Arg) c.2630C>G (p.Pro877Arg) | |
X | g.108686109C>T | CA413853774 | COL4A5 | c.4295C>T (p.Pro1432Leu) c.4277C>T (p.Pro1426Leu) n.789C>T n.698C>T c.91C>T c.4286C>T (p.Pro1429Leu) c.3971C>T (p.Pro1324Leu) c.1868C>T (p.Pro623Leu) c.4310C>T (p.Pro1437Leu) c.4301C>T (p.Pro1434Leu) c.4292C>T (p.Pro1431Leu) c.2630C>T (p.Pro877Leu) | |
X | g.108686110A= | CA2450718783 | COL4A5 | c.4296A= (p.Pro1432=) c.4278A= (p.Pro1426=) n.790A= n.699A= c.92A= c.4287A= (p.Pro1429=) c.3972A= (p.Pro1324=) c.1869A= (p.Pro623=) c.4311A= (p.Pro1437=) c.4302A= (p.Pro1434=) c.4293A= (p.Pro1431=) c.2631A= (p.Pro877=) | |
X | g.108686110A>C | CA517924183 | COL4A5 | c.4296A>C (p.Pro1432=) c.4278A>C (p.Pro1426=) n.790A>C n.699A>C c.92A>C c.4287A>C (p.Pro1429=) c.3972A>C (p.Pro1324=) c.1869A>C (p.Pro623=) c.4311A>C (p.Pro1437=) c.4302A>C (p.Pro1434=) c.4293A>C (p.Pro1431=) c.2631A>C (p.Pro877=) | |
X | g.108686110A>G | CA10489333 | COL4A5 | c.4296A>G (p.Pro1432=) c.4278A>G (p.Pro1426=) n.790A>G n.699A>G c.92A>G c.4287A>G (p.Pro1429=) c.3972A>G (p.Pro1324=) c.1869A>G (p.Pro623=) c.4311A>G (p.Pro1437=) c.4302A>G (p.Pro1434=) c.4293A>G (p.Pro1431=) c.2631A>G (p.Pro877=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108686110A>T | CA517924184 | COL4A5 | c.4296A>T (p.Pro1432=) c.4278A>T (p.Pro1426=) n.790A>T n.699A>T c.92A>T c.4287A>T (p.Pro1429=) c.3972A>T (p.Pro1324=) c.1869A>T (p.Pro623=) c.4311A>T (p.Pro1437=) c.4302A>T (p.Pro1434=) c.4293A>T (p.Pro1431=) c.2631A>T (p.Pro877=) | |
X | g.108686111G>A | CA413853779 | COL4A5 | c.4297G>A (p.Gly1433Ser) c.4279G>A (p.Gly1427Ser) n.791G>A n.700G>A c.93G>A c.4288G>A (p.Gly1430Ser) c.3973G>A (p.Gly1325Ser) c.1870G>A (p.Gly624Ser) c.4312G>A (p.Gly1438Ser) c.4303G>A (p.Gly1435Ser) c.4294G>A (p.Gly1432Ser) c.2632G>A (p.Gly878Ser) | gnomAD v4 |
X | g.108686111G>C | CA334058384 | COL4A5 | c.4297G>C (p.Gly1433Arg) c.4279G>C (p.Gly1427Arg) n.791G>C n.700G>C c.93G>C c.4288G>C (p.Gly1430Arg) c.3973G>C (p.Gly1325Arg) c.1870G>C (p.Gly624Arg) c.4312G>C (p.Gly1438Arg) c.4303G>C (p.Gly1435Arg) c.4294G>C (p.Gly1432Arg) c.2632G>C (p.Gly878Arg) | dbSNP |
X | g.108686111G= | CA2450718784 | COL4A5 | c.4297G= (p.Gly1433=) c.4279G= (p.Gly1427=) n.791G= n.700G= c.93G= c.4288G= (p.Gly1430=) c.3973G= (p.Gly1325=) c.1870G= (p.Gly624=) c.4312G= (p.Gly1438=) c.4303G= (p.Gly1435=) c.4294G= (p.Gly1432=) c.2632G= (p.Gly878=) | |
X | g.108686111G>T | CA259015 | COL4A5 | c.4297G>T (p.Gly1433Cys) c.4279G>T (p.Gly1427Cys) n.791G>T n.700G>T c.93G>T c.4288G>T (p.Gly1430Cys) c.3973G>T (p.Gly1325Cys) c.1870G>T (p.Gly624Cys) c.4312G>T (p.Gly1438Cys) c.4303G>T (p.Gly1435Cys) c.4294G>T (p.Gly1432Cys) c.2632G>T (p.Gly878Cys) | dbSNP |
X | g.108686112G>A | CA334058397 | COL4A5 | c.4298G>A (p.Gly1433Asp) c.4280G>A (p.Gly1427Asp) n.792G>A n.701G>A c.94G>A c.4289G>A (p.Gly1430Asp) c.3974G>A (p.Gly1325Asp) c.1871G>A (p.Gly624Asp) c.4313G>A (p.Gly1438Asp) c.4304G>A (p.Gly1435Asp) c.4295G>A (p.Gly1432Asp) c.2633G>A (p.Gly878Asp) | dbSNP |
X | g.108686112G>C | CA261096 | COL4A5 | c.4298G>C (p.Gly1433Ala) c.4280G>C (p.Gly1427Ala) n.792G>C n.701G>C c.94G>C c.4289G>C (p.Gly1430Ala) c.3974G>C (p.Gly1325Ala) c.1871G>C (p.Gly624Ala) c.4313G>C (p.Gly1438Ala) c.4304G>C (p.Gly1435Ala) c.4295G>C (p.Gly1432Ala) c.2633G>C (p.Gly878Ala) | dbSNP |
X | g.108686112G= | CA2450718785 | COL4A5 | c.4298G= (p.Gly1433=) c.4280G= (p.Gly1427=) n.792G= n.701G= c.94G= c.4289G= (p.Gly1430=) c.3974G= (p.Gly1325=) c.1871G= (p.Gly624=) c.4313G= (p.Gly1438=) c.4304G= (p.Gly1435=) c.4295G= (p.Gly1432=) c.2633G= (p.Gly878=) | |
X | g.108686112G>T | CA259019 | COL4A5 | c.4298G>T (p.Gly1433Val) c.4280G>T (p.Gly1427Val) n.792G>T n.701G>T c.94G>T c.4289G>T (p.Gly1430Val) c.3974G>T (p.Gly1325Val) c.1871G>T (p.Gly624Val) c.4313G>T (p.Gly1438Val) c.4304G>T (p.Gly1435Val) c.4295G>T (p.Gly1432Val) c.2633G>T (p.Gly878Val) | dbSNP |
X | g.108686113T>A | CA517924189 | COL4A5 | c.4299T>A (p.Gly1433=) c.4281T>A (p.Gly1427=) n.793T>A n.702T>A c.95T>A c.4290T>A (p.Gly1430=) c.3975T>A (p.Gly1325=) c.1872T>A (p.Gly624=) c.4314T>A (p.Gly1438=) c.4305T>A (p.Gly1435=) c.4296T>A (p.Gly1432=) c.2634T>A (p.Gly878=) | ClinVar dbSNP |
X | g.108686113T>C | CA517924190 | COL4A5 | c.4299T>C (p.Gly1433=) c.4281T>C (p.Gly1427=) n.793T>C n.702T>C c.95T>C c.4290T>C (p.Gly1430=) c.3975T>C (p.Gly1325=) c.1872T>C (p.Gly624=) c.4314T>C (p.Gly1438=) c.4305T>C (p.Gly1435=) c.4296T>C (p.Gly1432=) c.2634T>C (p.Gly878=) | |
X | g.108686113T>G | CA517924191 | COL4A5 | c.4299T>G (p.Gly1433=) c.4281T>G (p.Gly1427=) n.793T>G n.702T>G c.95T>G c.4290T>G (p.Gly1430=) c.3975T>G (p.Gly1325=) c.1872T>G (p.Gly624=) c.4314T>G (p.Gly1438=) c.4305T>G (p.Gly1435=) c.4296T>G (p.Gly1432=) c.2634T>G (p.Gly878=) | |
X | g.108686114C>A | CA413853784 | COL4A5 | c.4300C>A (p.Leu1434Met) c.4282C>A (p.Leu1428Met) n.794C>A n.703C>A c.96C>A c.4291C>A (p.Leu1431Met) c.3976C>A (p.Leu1326Met) c.1873C>A (p.Leu625Met) c.4315C>A (p.Leu1439Met) c.4306C>A (p.Leu1436Met) c.4297C>A (p.Leu1433Met) c.2635C>A (p.Leu879Met) | |
X | g.108686114C= | CA2450718786 | COL4A5 | c.4300C= (p.Leu1434=) c.4282C= (p.Leu1428=) n.794C= n.703C= c.96C= c.4291C= (p.Leu1431=) c.3976C= (p.Leu1326=) c.1873C= (p.Leu625=) c.4315C= (p.Leu1439=) c.4306C= (p.Leu1436=) c.4297C= (p.Leu1433=) c.2635C= (p.Leu879=) | |
X | g.108686114C>G | CA413853786 | COL4A5 | c.4300C>G (p.Leu1434Val) c.4282C>G (p.Leu1428Val) n.794C>G n.703C>G c.96C>G c.4291C>G (p.Leu1431Val) c.3976C>G (p.Leu1326Val) c.1873C>G (p.Leu625Val) c.4315C>G (p.Leu1439Val) c.4306C>G (p.Leu1436Val) c.4297C>G (p.Leu1433Val) c.2635C>G (p.Leu879Val) | COSMIC COSMIC |
X | g.108686114C>T | CA517924192 | COL4A5 | c.4300C>T (p.Leu1434=) c.4282C>T (p.Leu1428=) n.794C>T n.703C>T c.96C>T c.4291C>T (p.Leu1431=) c.3976C>T (p.Leu1326=) c.1873C>T (p.Leu625=) c.4315C>T (p.Leu1439=) c.4306C>T (p.Leu1436=) c.4297C>T (p.Leu1433=) c.2635C>T (p.Leu879=) | |
X | g.108686115T>A | CA413853788 | COL4A5 | c.4301T>A (p.Leu1434Gln) c.4283T>A (p.Leu1428Gln) n.795T>A n.704T>A c.97T>A c.4292T>A (p.Leu1431Gln) c.3977T>A (p.Leu1326Gln) c.1874T>A (p.Leu625Gln) c.4316T>A (p.Leu1439Gln) c.4307T>A (p.Leu1436Gln) c.4298T>A (p.Leu1433Gln) c.2636T>A (p.Leu879Gln) | |
X | g.108686115T>C | CA413853790 | COL4A5 | c.4301T>C (p.Leu1434Pro) c.4283T>C (p.Leu1428Pro) n.795T>C n.704T>C c.97T>C c.4292T>C (p.Leu1431Pro) c.3977T>C (p.Leu1326Pro) c.1874T>C (p.Leu625Pro) c.4316T>C (p.Leu1439Pro) c.4307T>C (p.Leu1436Pro) c.4298T>C (p.Leu1433Pro) c.2636T>C (p.Leu879Pro) | |
X | g.108686115T>G | CA413853789 | COL4A5 | c.4301T>G (p.Leu1434Arg) c.4283T>G (p.Leu1428Arg) n.795T>G n.704T>G c.97T>G c.4292T>G (p.Leu1431Arg) c.3977T>G (p.Leu1326Arg) c.1874T>G (p.Leu625Arg) c.4316T>G (p.Leu1439Arg) c.4307T>G (p.Leu1436Arg) c.4298T>G (p.Leu1433Arg) c.2636T>G (p.Leu879Arg) | |
X | g.108686116G>A | CA517924196 | COL4A5 | c.4302G>A (p.Leu1434=) c.4284G>A (p.Leu1428=) n.796G>A n.705G>A c.98G>A c.4293G>A (p.Leu1431=) c.3978G>A (p.Leu1326=) c.1875G>A (p.Leu625=) c.4317G>A (p.Leu1439=) c.4308G>A (p.Leu1436=) c.4299G>A (p.Leu1433=) c.2637G>A (p.Leu879=) | |
X | g.108686116G>C | CA517924197 | COL4A5 | c.4302G>C (p.Leu1434=) c.4284G>C (p.Leu1428=) n.796G>C n.705G>C c.98G>C c.4293G>C (p.Leu1431=) c.3978G>C (p.Leu1326=) c.1875G>C (p.Leu625=) c.4317G>C (p.Leu1439=) c.4308G>C (p.Leu1436=) c.4299G>C (p.Leu1433=) c.2637G>C (p.Leu879=) | |
X | g.108686116G>T | CA517924198 | COL4A5 | c.4302G>T (p.Leu1434=) c.4284G>T (p.Leu1428=) n.796G>T n.705G>T c.98G>T c.4293G>T (p.Leu1431=) c.3978G>T (p.Leu1326=) c.1875G>T (p.Leu625=) c.4317G>T (p.Leu1439=) c.4308G>T (p.Leu1436=) c.4299G>T (p.Leu1433=) c.2637G>T (p.Leu879=) | ClinVar |
X | g.108686122_108686130dup | CA2694414718 | COL4A5 | c.4308_4315+1dup c.4290_4297+1dup n.802_809+1dup n.711_718+1dup c.104_111+1dup c.4299_4306+1dup c.3984_3991+1dup c.1881_1888+1dup c.4323_4330+1dup c.4314_4321+1dup c.4305_4312+1dup c.2643_2650+1dup | gnomAD v4 |
X | g.108686117C>A | CA413853793 | COL4A5 | c.4303C>A (p.Pro1435Thr) c.4285C>A (p.Pro1429Thr) n.797C>A n.706C>A c.99C>A c.4294C>A (p.Pro1432Thr) c.3979C>A (p.Pro1327Thr) c.1876C>A (p.Pro626Thr) c.4318C>A (p.Pro1440Thr) c.4309C>A (p.Pro1437Thr) c.4300C>A (p.Pro1434Thr) c.2638C>A (p.Pro880Thr) | |
X | g.108686117C>G | CA413853795 | COL4A5 | c.4303C>G (p.Pro1435Ala) c.4285C>G (p.Pro1429Ala) n.797C>G n.706C>G c.99C>G c.4294C>G (p.Pro1432Ala) c.3979C>G (p.Pro1327Ala) c.1876C>G (p.Pro626Ala) c.4318C>G (p.Pro1440Ala) c.4309C>G (p.Pro1437Ala) c.4300C>G (p.Pro1434Ala) c.2638C>G (p.Pro880Ala) | |
X | g.108686117C>T | CA413853797 | COL4A5 | c.4303C>T (p.Pro1435Ser) c.4285C>T (p.Pro1429Ser) n.797C>T n.706C>T c.99C>T c.4294C>T (p.Pro1432Ser) c.3979C>T (p.Pro1327Ser) c.1876C>T (p.Pro626Ser) c.4318C>T (p.Pro1440Ser) c.4309C>T (p.Pro1437Ser) c.4300C>T (p.Pro1434Ser) c.2638C>T (p.Pro880Ser) | ClinVar |
X | g.108686118C>A | CA413853799 | COL4A5 | c.4304C>A (p.Pro1435Gln) c.4286C>A (p.Pro1429Gln) n.798C>A n.707C>A c.100C>A c.4295C>A (p.Pro1432Gln) c.3980C>A (p.Pro1327Gln) c.1877C>A (p.Pro626Gln) c.4319C>A (p.Pro1440Gln) c.4310C>A (p.Pro1437Gln) c.4301C>A (p.Pro1434Gln) c.2639C>A (p.Pro880Gln) | |
X | g.108686118C= | CA2450718787 | COL4A5 | c.4304C= (p.Pro1435=) c.4286C= (p.Pro1429=) n.798C= n.707C= c.100C= c.4295C= (p.Pro1432=) c.3980C= (p.Pro1327=) c.1877C= (p.Pro626=) c.4319C= (p.Pro1440=) c.4310C= (p.Pro1437=) c.4301C= (p.Pro1434=) c.2639C= (p.Pro880=) | |
X | g.108686118C>G | CA10489334 | COL4A5 | c.4304C>G (p.Pro1435Arg) c.4286C>G (p.Pro1429Arg) n.798C>G n.707C>G c.100C>G c.4295C>G (p.Pro1432Arg) c.3980C>G (p.Pro1327Arg) c.1877C>G (p.Pro626Arg) c.4319C>G (p.Pro1440Arg) c.4310C>G (p.Pro1437Arg) c.4301C>G (p.Pro1434Arg) c.2639C>G (p.Pro880Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108686118C>T | CA413853802 | COL4A5 | c.4304C>T (p.Pro1435Leu) c.4286C>T (p.Pro1429Leu) n.798C>T n.707C>T c.100C>T c.4295C>T (p.Pro1432Leu) c.3980C>T (p.Pro1327Leu) c.1877C>T (p.Pro626Leu) c.4319C>T (p.Pro1440Leu) c.4310C>T (p.Pro1437Leu) c.4301C>T (p.Pro1434Leu) c.2639C>T (p.Pro880Leu) | |
X | g.108686119A>C | CA517924203 | COL4A5 | c.4305A>C (p.Pro1435=) c.4287A>C (p.Pro1429=) n.799A>C n.708A>C c.101A>C c.4296A>C (p.Pro1432=) c.3981A>C (p.Pro1327=) c.1878A>C (p.Pro626=) c.4320A>C (p.Pro1440=) c.4311A>C (p.Pro1437=) c.4302A>C (p.Pro1434=) c.2640A>C (p.Pro880=) | |
X | g.108686119A>G | CA517924204 | COL4A5 | c.4305A>G (p.Pro1435=) c.4287A>G (p.Pro1429=) n.799A>G n.708A>G c.101A>G c.4296A>G (p.Pro1432=) c.3981A>G (p.Pro1327=) c.1878A>G (p.Pro626=) c.4320A>G (p.Pro1440=) c.4311A>G (p.Pro1437=) c.4302A>G (p.Pro1434=) c.2640A>G (p.Pro880=) | gnomAD v4 |
X | g.108686119A>T | CA517924202 | COL4A5 | c.4305A>T (p.Pro1435=) c.4287A>T (p.Pro1429=) n.799A>T n.708A>T c.101A>T c.4296A>T (p.Pro1432=) c.3981A>T (p.Pro1327=) c.1878A>T (p.Pro626=) c.4320A>T (p.Pro1440=) c.4311A>T (p.Pro1437=) c.4302A>T (p.Pro1434=) c.2640A>T (p.Pro880=) | |
X | g.108686120G>A | CA413853804 | COL4A5 | c.4306G>A (p.Gly1436Arg) c.4288G>A (p.Gly1430Arg) n.800G>A n.709G>A c.102G>A c.4297G>A (p.Gly1433Arg) c.3982G>A (p.Gly1328Arg) c.1879G>A (p.Gly627Arg) c.4321G>A (p.Gly1441Arg) c.4312G>A (p.Gly1438Arg) c.4303G>A (p.Gly1435Arg) c.2641G>A (p.Gly881Arg) | |
X | g.108686120G>C | CA413853806 | COL4A5 | c.4306G>C (p.Gly1436Arg) c.4288G>C (p.Gly1430Arg) n.800G>C n.709G>C c.102G>C c.4297G>C (p.Gly1433Arg) c.3982G>C (p.Gly1328Arg) c.1879G>C (p.Gly627Arg) c.4321G>C (p.Gly1441Arg) c.4312G>C (p.Gly1438Arg) c.4303G>C (p.Gly1435Arg) c.2641G>C (p.Gly881Arg) | |
X | g.108686120G>T | CA413853808 | COL4A5 | c.4306G>T (p.Gly1436Ter) c.4288G>T (p.Gly1430Ter) n.800G>T n.709G>T c.102G>T c.4297G>T (p.Gly1433Ter) c.3982G>T (p.Gly1328Ter) c.1879G>T (p.Gly627Ter) c.4321G>T (p.Gly1441Ter) c.4312G>T (p.Gly1438Ter) c.4303G>T (p.Gly1435Ter) c.2641G>T (p.Gly881Ter) | |
X | g.108686121G>A | CA413853810 | COL4A5 | c.4307G>A (p.Gly1436Glu) c.4289G>A (p.Gly1430Glu) n.801G>A n.710G>A c.103G>A c.4298G>A (p.Gly1433Glu) c.3983G>A (p.Gly1328Glu) c.1880G>A (p.Gly627Glu) c.4322G>A (p.Gly1441Glu) c.4313G>A (p.Gly1438Glu) c.4304G>A (p.Gly1435Glu) c.2642G>A (p.Gly881Glu) | |
X | g.108686121G>C | CA413853812 | COL4A5 | c.4307G>C (p.Gly1436Ala) c.4289G>C (p.Gly1430Ala) n.801G>C n.710G>C c.103G>C c.4298G>C (p.Gly1433Ala) c.3983G>C (p.Gly1328Ala) c.1880G>C (p.Gly627Ala) c.4322G>C (p.Gly1441Ala) c.4313G>C (p.Gly1438Ala) c.4304G>C (p.Gly1435Ala) c.2642G>C (p.Gly881Ala) | COSMIC COSMIC |
X | g.108686121G>T | CA413853814 | COL4A5 | c.4307G>T (p.Gly1436Val) c.4289G>T (p.Gly1430Val) n.801G>T n.710G>T c.103G>T c.4298G>T (p.Gly1433Val) c.3983G>T (p.Gly1328Val) c.1880G>T (p.Gly627Val) c.4322G>T (p.Gly1441Val) c.4313G>T (p.Gly1438Val) c.4304G>T (p.Gly1435Val) c.2642G>T (p.Gly881Val) | COSMIC COSMIC |
X | g.108686122A>C | CA517924211 | COL4A5 | c.4308A>C (p.Gly1436=) c.4290A>C (p.Gly1430=) n.802A>C n.711A>C c.104A>C c.4299A>C (p.Gly1433=) c.3984A>C (p.Gly1328=) c.1881A>C (p.Gly627=) c.4323A>C (p.Gly1441=) c.4314A>C (p.Gly1438=) c.4305A>C (p.Gly1435=) c.2643A>C (p.Gly881=) | |
X | g.108686122A>G | CA517924212 | COL4A5 | c.4308A>G (p.Gly1436=) c.4290A>G (p.Gly1430=) n.802A>G n.711A>G c.104A>G c.4299A>G (p.Gly1433=) c.3984A>G (p.Gly1328=) c.1881A>G (p.Gly627=) c.4323A>G (p.Gly1441=) c.4314A>G (p.Gly1438=) c.4305A>G (p.Gly1435=) c.2643A>G (p.Gly881=) | |
X | g.108686122A>T | CA517924214 | COL4A5 | c.4308A>T (p.Gly1436=) c.4290A>T (p.Gly1430=) n.802A>T n.711A>T c.104A>T c.4299A>T (p.Gly1433=) c.3984A>T (p.Gly1328=) c.1881A>T (p.Gly627=) c.4323A>T (p.Gly1441=) c.4314A>T (p.Gly1438=) c.4305A>T (p.Gly1435=) c.2643A>T (p.Gly881=) | |
X | g.108686123C>A | CA413853819 | COL4A5 | c.4309C>A (p.Gln1437Lys) c.4291C>A (p.Gln1431Lys) n.803C>A n.712C>A c.105C>A c.4300C>A (p.Gln1434Lys) c.3985C>A (p.Gln1329Lys) c.1882C>A (p.Gln628Lys) c.4324C>A (p.Gln1442Lys) c.4315C>A (p.Gln1439Lys) c.4306C>A (p.Gln1436Lys) c.2644C>A (p.Gln882Lys) | |
X | g.108686123C= | CA2450718788 | COL4A5 | c.4309C= (p.Gln1437=) c.4291C= (p.Gln1431=) n.803C= n.712C= c.105C= c.4300C= (p.Gln1434=) c.3985C= (p.Gln1329=) c.1882C= (p.Gln628=) c.4324C= (p.Gln1442=) c.4315C= (p.Gln1439=) c.4306C= (p.Gln1436=) c.2644C= (p.Gln882=) | |
X | g.108686123C>G | CA10489335 | COL4A5 | c.4309C>G (p.Gln1437Glu) c.4291C>G (p.Gln1431Glu) n.803C>G n.712C>G c.105C>G c.4300C>G (p.Gln1434Glu) c.3985C>G (p.Gln1329Glu) c.1882C>G (p.Gln628Glu) c.4324C>G (p.Gln1442Glu) c.4315C>G (p.Gln1439Glu) c.4306C>G (p.Gln1436Glu) c.2644C>G (p.Gln882Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108686123C>T | CA413853818 | COL4A5 | c.4309C>T (p.Gln1437Ter) c.4291C>T (p.Gln1431Ter) n.803C>T n.712C>T c.105C>T c.4300C>T (p.Gln1434Ter) c.3985C>T (p.Gln1329Ter) c.1882C>T (p.Gln628Ter) c.4324C>T (p.Gln1442Ter) c.4315C>T (p.Gln1439Ter) c.4306C>T (p.Gln1436Ter) c.2644C>T (p.Gln882Ter) | ClinVar dbSNP gnomAD v4 |
X | g.108686124A>C | CA413853822 | COL4A5 | c.4310A>C (p.Gln1437Pro) c.4292A>C (p.Gln1431Pro) n.804A>C n.713A>C c.106A>C c.4301A>C (p.Gln1434Pro) c.3986A>C (p.Gln1329Pro) c.1883A>C (p.Gln628Pro) c.4325A>C (p.Gln1442Pro) c.4316A>C (p.Gln1439Pro) c.4307A>C (p.Gln1436Pro) c.2645A>C (p.Gln882Pro) | |
X | g.108686124A>G | CA413853824 | COL4A5 | c.4310A>G (p.Gln1437Arg) c.4292A>G (p.Gln1431Arg) n.804A>G n.713A>G c.106A>G c.4301A>G (p.Gln1434Arg) c.3986A>G (p.Gln1329Arg) c.1883A>G (p.Gln628Arg) c.4325A>G (p.Gln1442Arg) c.4316A>G (p.Gln1439Arg) c.4307A>G (p.Gln1436Arg) c.2645A>G (p.Gln882Arg) | |
X | g.108686124A>T | CA413853825 | COL4A5 | c.4310A>T (p.Gln1437Leu) c.4292A>T (p.Gln1431Leu) n.804A>T n.713A>T c.106A>T c.4301A>T (p.Gln1434Leu) c.3986A>T (p.Gln1329Leu) c.1883A>T (p.Gln628Leu) c.4325A>T (p.Gln1442Leu) c.4316A>T (p.Gln1439Leu) c.4307A>T (p.Gln1436Leu) c.2645A>T (p.Gln882Leu) |