| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108681863_108681864delinsAC | CA2450717249 | COL4A5 | c.4191_4192delinsAC (p.Gly1397=) c.4173_4174delinsAC (p.Gly1391=) n.685_686delinsAC n.594_595delinsAC c.4182_4183delinsAC (p.Gly1394=) c.3867_3868delinsAC (p.Gly1289=) c.1764_1765delinsAC (p.Gly588=) c.4206_4207delinsAC (p.Gly1402=) c.4197_4198delinsAC (p.Gly1399=) c.4188_4189delinsAC (p.Gly1396=) c.2526_2527delinsAC (p.Gly842=) | |
| X | g.108681864C>A | CA413852379 | COL4A5 | c.4192C>A (p.Pro1398Thr) c.4174C>A (p.Pro1392Thr) n.686C>A n.595C>A c.4183C>A (p.Pro1395Thr) c.3868C>A (p.Pro1290Thr) c.1765C>A (p.Pro589Thr) c.4207C>A (p.Pro1403Thr) c.4198C>A (p.Pro1400Thr) c.4189C>A (p.Pro1397Thr) c.2527C>A (p.Pro843Thr) | gnomAD v4 |
| X | g.108681864C>G | CA413852389 | COL4A5 | c.4192C>G (p.Pro1398Ala) c.4174C>G (p.Pro1392Ala) n.686C>G n.595C>G c.4183C>G (p.Pro1395Ala) c.3868C>G (p.Pro1290Ala) c.1765C>G (p.Pro589Ala) c.4207C>G (p.Pro1403Ala) c.4198C>G (p.Pro1400Ala) c.4189C>G (p.Pro1397Ala) c.2527C>G (p.Pro843Ala) | |
| X | g.108681864C>T | CA413852377 | COL4A5 | c.4192C>T (p.Pro1398Ser) c.4174C>T (p.Pro1392Ser) n.686C>T n.595C>T c.4183C>T (p.Pro1395Ser) c.3868C>T (p.Pro1290Ser) c.1765C>T (p.Pro589Ser) c.4207C>T (p.Pro1403Ser) c.4198C>T (p.Pro1400Ser) c.4189C>T (p.Pro1397Ser) c.2527C>T (p.Pro843Ser) | |
| X | g.108681867del | CA259001 | COL4A5 | c.4195del (p.Gln1399LysfsTer?) c.4177del (p.Gln1393LysfsTer?) n.689del n.598del c.4186del (p.Gln1396LysfsTer?) c.3871del (p.Gln1291LysfsTer?) c.1768del (p.Gln590LysfsTer?) c.4210del (p.Gln1404LysfsTer?) c.4201del (p.Gln1401LysfsTer?) c.4192del (p.Gln1398LysfsTer?) c.2530del (p.Gln844LysfsTer?) | dbSNP |
| X | g.108681865C>A | CA413852396 | COL4A5 | c.4193C>A (p.Pro1398His) c.4175C>A (p.Pro1392His) n.687C>A n.596C>A c.4184C>A (p.Pro1395His) c.3869C>A (p.Pro1290His) c.1766C>A (p.Pro589His) c.4208C>A (p.Pro1403His) c.4199C>A (p.Pro1400His) c.4190C>A (p.Pro1397His) c.2528C>A (p.Pro843His) | gnomAD v4 |
| X | g.108681865C= | CA2450717250 | COL4A5 | c.4193C= (p.Pro1398=) c.4175C= (p.Pro1392=) n.687C= n.596C= c.4184C= (p.Pro1395=) c.3869C= (p.Pro1290=) c.1766C= (p.Pro589=) c.4208C= (p.Pro1403=) c.4199C= (p.Pro1400=) c.4190C= (p.Pro1397=) c.2528C= (p.Pro843=) | |
| X | g.108681865C>G | CA413852397 | COL4A5 | c.4193C>G (p.Pro1398Arg) c.4175C>G (p.Pro1392Arg) n.687C>G n.596C>G c.4184C>G (p.Pro1395Arg) c.3869C>G (p.Pro1290Arg) c.1766C>G (p.Pro589Arg) c.4208C>G (p.Pro1403Arg) c.4199C>G (p.Pro1400Arg) c.4190C>G (p.Pro1397Arg) c.2528C>G (p.Pro843Arg) | dbSNP gnomAD v4 |
| X | g.108681865C>T | CA413852398 | COL4A5 | c.4193C>T (p.Pro1398Leu) c.4175C>T (p.Pro1392Leu) n.687C>T n.596C>T c.4184C>T (p.Pro1395Leu) c.3869C>T (p.Pro1290Leu) c.1766C>T (p.Pro589Leu) c.4208C>T (p.Pro1403Leu) c.4199C>T (p.Pro1400Leu) c.4190C>T (p.Pro1397Leu) c.2528C>T (p.Pro843Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108681866C>A | CA517923873 | COL4A5 | c.4194C>A (p.Pro1398=) c.4176C>A (p.Pro1392=) n.688C>A n.597C>A c.4185C>A (p.Pro1395=) c.3870C>A (p.Pro1290=) c.1767C>A (p.Pro589=) c.4209C>A (p.Pro1403=) c.4200C>A (p.Pro1400=) c.4191C>A (p.Pro1397=) c.2529C>A (p.Pro843=) | |
| X | g.108681866C= | CA2450717251 | COL4A5 | c.4194C= (p.Pro1398=) c.4176C= (p.Pro1392=) n.688C= n.597C= c.4185C= (p.Pro1395=) c.3870C= (p.Pro1290=) c.1767C= (p.Pro589=) c.4209C= (p.Pro1403=) c.4200C= (p.Pro1400=) c.4191C= (p.Pro1397=) c.2529C= (p.Pro843=) | |
| X | g.108681866C>G | CA517923874 | COL4A5 | c.4194C>G (p.Pro1398=) c.4176C>G (p.Pro1392=) n.688C>G n.597C>G c.4185C>G (p.Pro1395=) c.3870C>G (p.Pro1290=) c.1767C>G (p.Pro589=) c.4209C>G (p.Pro1403=) c.4200C>G (p.Pro1400=) c.4191C>G (p.Pro1397=) c.2529C>G (p.Pro843=) | dbSNP |
| X | g.108681866C>T | CA517923875 | COL4A5 | c.4194C>T (p.Pro1398=) c.4176C>T (p.Pro1392=) n.688C>T n.597C>T c.4185C>T (p.Pro1395=) c.3870C>T (p.Pro1290=) c.1767C>T (p.Pro589=) c.4209C>T (p.Pro1403=) c.4200C>T (p.Pro1400=) c.4191C>T (p.Pro1397=) c.2529C>T (p.Pro843=) | |
| X | g.108681867C>A | CA413852399 | COL4A5 | c.4195C>A (p.Gln1399Lys) c.4177C>A (p.Gln1393Lys) n.689C>A n.598C>A c.4186C>A (p.Gln1396Lys) c.3871C>A (p.Gln1291Lys) c.1768C>A (p.Gln590Lys) c.4210C>A (p.Gln1404Lys) c.4201C>A (p.Gln1401Lys) c.4192C>A (p.Gln1398Lys) c.2530C>A (p.Gln844Lys) | |
| X | g.108681867C= | CA2450717253 | COL4A5 | c.4195C= (p.Gln1399=) c.4177C= (p.Gln1393=) n.689C= n.598C= c.4186C= (p.Gln1396=) c.3871C= (p.Gln1291=) c.1768C= (p.Gln590=) c.4210C= (p.Gln1404=) c.4201C= (p.Gln1401=) c.4192C= (p.Gln1398=) c.2530C= (p.Gln844=) | |
| X | g.108681867C>G | CA413852400 | COL4A5 | c.4195C>G (p.Gln1399Glu) c.4177C>G (p.Gln1393Glu) n.689C>G n.598C>G c.4186C>G (p.Gln1396Glu) c.3871C>G (p.Gln1291Glu) c.1768C>G (p.Gln590Glu) c.4210C>G (p.Gln1404Glu) c.4201C>G (p.Gln1401Glu) c.4192C>G (p.Gln1398Glu) c.2530C>G (p.Gln844Glu) | |
| X | g.108681867C>T | CA258998 | COL4A5 | c.4195C>T (p.Gln1399Ter) c.4177C>T (p.Gln1393Ter) n.689C>T n.598C>T c.4186C>T (p.Gln1396Ter) c.3871C>T (p.Gln1291Ter) c.1768C>T (p.Gln590Ter) c.4210C>T (p.Gln1404Ter) c.4201C>T (p.Gln1401Ter) c.4192C>T (p.Gln1398Ter) c.2530C>T (p.Gln844Ter) | dbSNP |
| X | g.108681867_108681868delinsCA | CA2450717252 | COL4A5 | c.4195_4196delinsCA (p.Gln1399=) c.4177_4178delinsCA (p.Gln1393=) n.689_690delinsCA n.598_599delinsCA c.4186_4187delinsCA (p.Gln1396=) c.3871_3872delinsCA (p.Gln1291=) c.1768_1769delinsCA (p.Gln590=) c.4210_4211delinsCA (p.Gln1404=) c.4201_4202delinsCA (p.Gln1401=) c.4192_4193delinsCA (p.Gln1398=) c.2530_2531delinsCA (p.Gln844=) | |
| X | g.108681868A= | CA2450717254 | COL4A5 | c.4196A= (p.Gln1399=) c.4178A= (p.Gln1393=) n.690A= n.599A= c.4187A= (p.Gln1396=) c.3872A= (p.Gln1291=) c.1769A= (p.Gln590=) c.4211A= (p.Gln1404=) c.4202A= (p.Gln1401=) c.4193A= (p.Gln1398=) c.2531A= (p.Gln844=) | |
| X | g.108681868A>C | CA413852406 | COL4A5 | c.4196A>C (p.Gln1399Pro) c.4178A>C (p.Gln1393Pro) n.690A>C n.599A>C c.4187A>C (p.Gln1396Pro) c.3872A>C (p.Gln1291Pro) c.1769A>C (p.Gln590Pro) c.4211A>C (p.Gln1404Pro) c.4202A>C (p.Gln1401Pro) c.4193A>C (p.Gln1398Pro) c.2531A>C (p.Gln844Pro) | |
| X | g.108681868A>G | CA413852405 | COL4A5 | c.4196A>G (p.Gln1399Arg) c.4178A>G (p.Gln1393Arg) n.690A>G n.599A>G c.4187A>G (p.Gln1396Arg) c.3872A>G (p.Gln1291Arg) c.1769A>G (p.Gln590Arg) c.4211A>G (p.Gln1404Arg) c.4202A>G (p.Gln1401Arg) c.4193A>G (p.Gln1398Arg) c.2531A>G (p.Gln844Arg) | |
| X | g.108681868A>T | CA413852403 | COL4A5 | c.4196A>T (p.Gln1399Leu) c.4178A>T (p.Gln1393Leu) n.690A>T n.599A>T c.4187A>T (p.Gln1396Leu) c.3872A>T (p.Gln1291Leu) c.1769A>T (p.Gln590Leu) c.4211A>T (p.Gln1404Leu) c.4202A>T (p.Gln1401Leu) c.4193A>T (p.Gln1398Leu) c.2531A>T (p.Gln844Leu) | |
| X | g.108681869del | CA915951309 | COL4A5 | c.4197del (p.Gly1400AspfsTer?) c.4179del (p.Gly1394AspfsTer?) n.691del n.600del c.4188del (p.Gly1397AspfsTer?) c.3873del (p.Gly1292AspfsTer?) c.1770del (p.Gly591AspfsTer?) c.4212del (p.Gly1405AspfsTer?) c.4203del (p.Gly1402AspfsTer?) c.4194del (p.Gly1399AspfsTer?) c.2532del (p.Gly845AspfsTer?) | ClinVar dbSNP |
| X | g.108681868_108681872delinsAAGGA | CA2450717255 | COL4A5 | c.4196_4200delinsAAGGA (p.Gln1399=) c.4178_4182delinsAAGGA (p.Gln1393=) n.690_694delinsAAGGA n.599_603delinsAAGGA c.4187_4191delinsAAGGA (p.Gln1396=) c.3872_3876delinsAAGGA (p.Gln1291=) c.1769_1773delinsAAGGA (p.Gln590=) c.4211_4215delinsAAGGA (p.Gln1404=) c.4202_4206delinsAAGGA (p.Gln1401=) c.4193_4197delinsAAGGA (p.Gln1398=) c.2531_2535delinsAAGGA (p.Gln844=) | |
| X | g.108681868_108681869insC | CA334055385 | COL4A5 | c.4196_4197insC (p.Gln1399HisfsTer25) c.4178_4179insC (p.Gln1393HisfsTer25) n.690_691insC n.599_600insC c.4187_4188insC (p.Gln1396HisfsTer25) c.3872_3873insC (p.Gln1291HisfsTer25) c.1769_1770insC (p.Gln590HisfsTer25) c.4211_4212insC (p.Gln1404HisfsTer25) c.4202_4203insC (p.Gln1401HisfsTer25) c.4193_4194insC (p.Gln1398HisfsTer25) c.2531_2532insC (p.Gln844HisfsTer25) | dbSNP |
| X | g.108681869A>C | CA413852412 | COL4A5 | c.4197A>C (p.Gln1399His) c.4179A>C (p.Gln1393His) n.691A>C n.600A>C c.4188A>C (p.Gln1396His) c.3873A>C (p.Gln1291His) c.1770A>C (p.Gln590His) c.4212A>C (p.Gln1404His) c.4203A>C (p.Gln1401His) c.4194A>C (p.Gln1398His) c.2532A>C (p.Gln844His) | |
| X | g.108681869A>G | CA517923876 | COL4A5 | c.4197A>G (p.Gln1399=) c.4179A>G (p.Gln1393=) n.691A>G n.600A>G c.4188A>G (p.Gln1396=) c.3873A>G (p.Gln1291=) c.1770A>G (p.Gln590=) c.4212A>G (p.Gln1404=) c.4203A>G (p.Gln1401=) c.4194A>G (p.Gln1398=) c.2532A>G (p.Gln844=) | ClinVar dbSNP gnomAD v4 |
| X | g.108681869A>T | CA413852413 | COL4A5 | c.4197A>T (p.Gln1399His) c.4179A>T (p.Gln1393His) n.691A>T n.600A>T c.4188A>T (p.Gln1396His) c.3873A>T (p.Gln1291His) c.1770A>T (p.Gln590His) c.4212A>T (p.Gln1404His) c.4203A>T (p.Gln1401His) c.4194A>T (p.Gln1398His) c.2532A>T (p.Gln844His) | |
| X | g.108681869_108681872delinsGGG | CA915951310 | COL4A5 | c.4197_4200delinsGGG (p.Pro1401LeufsTer?) c.4179_4182delinsGGG (p.Pro1395LeufsTer?) n.691_694delinsGGG n.600_603delinsGGG c.4188_4191delinsGGG (p.Pro1398LeufsTer?) c.3873_3876delinsGGG (p.Pro1293LeufsTer?) c.1770_1773delinsGGG (p.Pro592LeufsTer?) c.4212_4215delinsGGG (p.Pro1406LeufsTer?) c.4203_4206delinsGGG (p.Pro1403LeufsTer?) c.4194_4197delinsGGG (p.Pro1400LeufsTer?) c.2532_2535delinsGGG (p.Pro846LeufsTer?) | ClinVar dbSNP |
| X | g.108681870G>A | CA334055393 | COL4A5 | c.4198G>A (p.Gly1400Arg) c.4180G>A (p.Gly1394Arg) n.692G>A n.601G>A c.4189G>A (p.Gly1397Arg) c.3874G>A (p.Gly1292Arg) c.1771G>A (p.Gly591Arg) c.4213G>A (p.Gly1405Arg) c.4204G>A (p.Gly1402Arg) c.4195G>A (p.Gly1399Arg) c.2533G>A (p.Gly845Arg) | dbSNP |
| X | g.108681870G>C | CA413852417 | COL4A5 | c.4198G>C (p.Gly1400Arg) c.4180G>C (p.Gly1394Arg) n.692G>C n.601G>C c.4189G>C (p.Gly1397Arg) c.3874G>C (p.Gly1292Arg) c.1771G>C (p.Gly591Arg) c.4213G>C (p.Gly1405Arg) c.4204G>C (p.Gly1402Arg) c.4195G>C (p.Gly1399Arg) c.2533G>C (p.Gly845Arg) | |
| X | g.108681870G= | CA2450717256 | COL4A5 | c.4198G= (p.Gly1400=) c.4180G= (p.Gly1394=) n.692G= n.601G= c.4189G= (p.Gly1397=) c.3874G= (p.Gly1292=) c.1771G= (p.Gly591=) c.4213G= (p.Gly1405=) c.4204G= (p.Gly1402=) c.4195G= (p.Gly1399=) c.2533G= (p.Gly845=) | |
| X | g.108681870G>T | CA413852419 | COL4A5 | c.4198G>T (p.Gly1400Ter) c.4180G>T (p.Gly1394Ter) n.692G>T n.601G>T c.4189G>T (p.Gly1397Ter) c.3874G>T (p.Gly1292Ter) c.1771G>T (p.Gly591Ter) c.4213G>T (p.Gly1405Ter) c.4204G>T (p.Gly1402Ter) c.4195G>T (p.Gly1399Ter) c.2533G>T (p.Gly845Ter) | ClinVar |
| X | g.108681871G>A | CA413852421 | COL4A5 | c.4199G>A (p.Gly1400Glu) c.4181G>A (p.Gly1394Glu) n.693G>A n.602G>A c.4190G>A (p.Gly1397Glu) c.3875G>A (p.Gly1292Glu) c.1772G>A (p.Gly591Glu) c.4214G>A (p.Gly1405Glu) c.4205G>A (p.Gly1402Glu) c.4196G>A (p.Gly1399Glu) c.2534G>A (p.Gly845Glu) | |
| X | g.108681871G>C | CA413852422 | COL4A5 | c.4199G>C (p.Gly1400Ala) c.4181G>C (p.Gly1394Ala) n.693G>C n.602G>C c.4190G>C (p.Gly1397Ala) c.3875G>C (p.Gly1292Ala) c.1772G>C (p.Gly591Ala) c.4214G>C (p.Gly1405Ala) c.4205G>C (p.Gly1402Ala) c.4196G>C (p.Gly1399Ala) c.2534G>C (p.Gly845Ala) | |
| X | g.108681871G>T | CA413852423 | COL4A5 | c.4199G>T (p.Gly1400Val) c.4181G>T (p.Gly1394Val) n.693G>T n.602G>T c.4190G>T (p.Gly1397Val) c.3875G>T (p.Gly1292Val) c.1772G>T (p.Gly591Val) c.4214G>T (p.Gly1405Val) c.4205G>T (p.Gly1402Val) c.4196G>T (p.Gly1399Val) c.2534G>T (p.Gly845Val) | |
| X | g.108681872A= | CA2450717258 | COL4A5 | c.4200A= (p.Gly1400=) c.4182A= (p.Gly1394=) n.694A= n.603A= c.4191A= (p.Gly1397=) c.3876A= (p.Gly1292=) c.1773A= (p.Gly591=) c.4215A= (p.Gly1405=) c.4206A= (p.Gly1402=) c.4197A= (p.Gly1399=) c.2535A= (p.Gly845=) | |
| X | g.108681872A>C | CA517923877 | COL4A5 | c.4200A>C (p.Gly1400=) c.4182A>C (p.Gly1394=) n.694A>C n.603A>C c.4191A>C (p.Gly1397=) c.3876A>C (p.Gly1292=) c.1773A>C (p.Gly591=) c.4215A>C (p.Gly1405=) c.4206A>C (p.Gly1402=) c.4197A>C (p.Gly1399=) c.2535A>C (p.Gly845=) | |
| X | g.108681872A>G | CA517923878 | COL4A5 | c.4200A>G (p.Gly1400=) c.4182A>G (p.Gly1394=) n.694A>G n.603A>G c.4191A>G (p.Gly1397=) c.3876A>G (p.Gly1292=) c.1773A>G (p.Gly591=) c.4215A>G (p.Gly1405=) c.4206A>G (p.Gly1402=) c.4197A>G (p.Gly1399=) c.2535A>G (p.Gly845=) | ClinVar dbSNP |
| X | g.108681872A>T | CA517923879 | COL4A5 | c.4200A>T (p.Gly1400=) c.4182A>T (p.Gly1394=) n.694A>T n.603A>T c.4191A>T (p.Gly1397=) c.3876A>T (p.Gly1292=) c.1773A>T (p.Gly591=) c.4215A>T (p.Gly1405=) c.4206A>T (p.Gly1402=) c.4197A>T (p.Gly1399=) c.2535A>T (p.Gly845=) | |
| X | g.108681872_108681873delinsAC | CA2450717257 | COL4A5 | c.4200_4201delinsAC (p.Gly1400=) c.4182_4183delinsAC (p.Gly1394=) n.694_695delinsAC n.603_604delinsAC c.4191_4192delinsAC (p.Gly1397=) c.3876_3877delinsAC (p.Gly1292=) c.1773_1774delinsAC (p.Gly591=) c.4215_4216delinsAC (p.Gly1405=) c.4206_4207delinsAC (p.Gly1402=) c.4197_4198delinsAC (p.Gly1399=) c.2535_2536delinsAC (p.Gly845=) | |
| X | g.108681873C>A | CA413852425 | COL4A5 | c.4201C>A (p.Pro1401Thr) c.4183C>A (p.Pro1395Thr) n.695C>A n.604C>A c.4192C>A (p.Pro1398Thr) c.3877C>A (p.Pro1293Thr) c.1774C>A (p.Pro592Thr) c.4216C>A (p.Pro1406Thr) c.4207C>A (p.Pro1403Thr) c.4198C>A (p.Pro1400Thr) c.2536C>A (p.Pro846Thr) | |
| X | g.108681873C>G | CA413852428 | COL4A5 | c.4201C>G (p.Pro1401Ala) c.4183C>G (p.Pro1395Ala) n.695C>G n.604C>G c.4192C>G (p.Pro1398Ala) c.3877C>G (p.Pro1293Ala) c.1774C>G (p.Pro592Ala) c.4216C>G (p.Pro1406Ala) c.4207C>G (p.Pro1403Ala) c.4198C>G (p.Pro1400Ala) c.2536C>G (p.Pro846Ala) | |
| X | g.108681873C>T | CA413852424 | COL4A5 | c.4201C>T (p.Pro1401Ser) c.4183C>T (p.Pro1395Ser) n.695C>T n.604C>T c.4192C>T (p.Pro1398Ser) c.3877C>T (p.Pro1293Ser) c.1774C>T (p.Pro592Ser) c.4216C>T (p.Pro1406Ser) c.4207C>T (p.Pro1403Ser) c.4198C>T (p.Pro1400Ser) c.2536C>T (p.Pro846Ser) | gnomAD v4 |
| X | g.108681874del | CA891843687 | COL4A5 | c.4202del (p.Pro1401LeufsTer?) c.4184del (p.Pro1395LeufsTer?) n.696del n.605del c.4193del (p.Pro1398LeufsTer?) c.3878del (p.Pro1293LeufsTer?) c.1775del (p.Pro592LeufsTer?) c.4217del (p.Pro1406LeufsTer?) c.4208del (p.Pro1403LeufsTer?) c.4199del (p.Pro1400LeufsTer?) c.2537del (p.Pro846LeufsTer?) | |
| X | g.108681874C>A | CA10489301 | COL4A5 | c.4202C>A (p.Pro1401His) c.4184C>A (p.Pro1395His) n.696C>A n.605C>A c.4193C>A (p.Pro1398His) c.3878C>A (p.Pro1293His) c.1775C>A (p.Pro592His) c.4217C>A (p.Pro1406His) c.4208C>A (p.Pro1403His) c.4199C>A (p.Pro1400His) c.2537C>A (p.Pro846His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681874C= | CA2450717259 | COL4A5 | c.4202C= (p.Pro1401=) c.4184C= (p.Pro1395=) n.696C= n.605C= c.4193C= (p.Pro1398=) c.3878C= (p.Pro1293=) c.1775C= (p.Pro592=) c.4217C= (p.Pro1406=) c.4208C= (p.Pro1403=) c.4199C= (p.Pro1400=) c.2537C= (p.Pro846=) | |
| X | g.108681874C>G | CA413852431 | COL4A5 | c.4202C>G (p.Pro1401Arg) c.4184C>G (p.Pro1395Arg) n.696C>G n.605C>G c.4193C>G (p.Pro1398Arg) c.3878C>G (p.Pro1293Arg) c.1775C>G (p.Pro592Arg) c.4217C>G (p.Pro1406Arg) c.4208C>G (p.Pro1403Arg) c.4199C>G (p.Pro1400Arg) c.2537C>G (p.Pro846Arg) | |
| X | g.108681874C>T | CA413852433 | COL4A5 | c.4202C>T (p.Pro1401Leu) c.4184C>T (p.Pro1395Leu) n.696C>T n.605C>T c.4193C>T (p.Pro1398Leu) c.3878C>T (p.Pro1293Leu) c.1775C>T (p.Pro592Leu) c.4217C>T (p.Pro1406Leu) c.4208C>T (p.Pro1403Leu) c.4199C>T (p.Pro1400Leu) c.2537C>T (p.Pro846Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108681875T>A | CA517923880 | COL4A5 | c.4203T>A (p.Pro1401=) c.4185T>A (p.Pro1395=) n.697T>A n.606T>A c.4194T>A (p.Pro1398=) c.3879T>A (p.Pro1293=) c.1776T>A (p.Pro592=) c.4218T>A (p.Pro1406=) c.4209T>A (p.Pro1403=) c.4200T>A (p.Pro1400=) c.2538T>A (p.Pro846=) |