| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108580713del | CA258339 | COL4A5 | c.866del (p.Gly289ValfsTer?) c.542del (p.Gly181ValfsTer?) c.881del (p.Gly294ValfsTer?) | dbSNP |
| X | g.108580713G>A | CA413926301 | COL4A5 | c.866G>A (p.Gly289Asp) c.542G>A (p.Gly181Asp) c.881G>A (p.Gly294Asp) | ClinVar dbSNP |
| X | g.108580713G>C | CA413926297 | COL4A5 | c.866G>C (p.Gly289Ala) c.542G>C (p.Gly181Ala) c.881G>C (p.Gly294Ala) | |
| X | g.108580713G= | CA2450683093 | COL4A5 | c.866G= (p.Gly289=) c.542G= (p.Gly181=) c.881G= (p.Gly294=) | |
| X | g.108580713G>T | CA258337 | COL4A5 | c.866G>T (p.Gly289Val) c.542G>T (p.Gly181Val) c.881G>T (p.Gly294Val) | ClinVar dbSNP |
| X | g.[108580713G>T;108686096C>T] | CA033428 | COL4A5 | c.[866G>T;4282C>T] (p.[Gly289Val;Arg1428Cys]) c.[866G>T;4264C>T] (p.[Gly289Val;Arg1422Cys]) c.[866G>T;4273C>T] (p.[Gly289Val;Arg1425Cys]) c.[542G>T;3958C>T] (p.[Gly181Val;Arg1320Cys]) c.[881G>T;4297C>T] (p.[Gly294Val;Arg1433Cys]) c.[881G>T;4288C>T] (p.[Gly294Val;Arg1430Cys]) c.[881G>T;4279C>T] (p.[Gly294Val;Arg1427Cys]) | ClinVar |
| X | g.108580714T>A | CA517991899 | COL4A5 | c.867T>A (p.Gly289=) c.543T>A (p.Gly181=) c.882T>A (p.Gly294=) | ClinVar |
| X | g.108580714T>C | CA517991900 | COL4A5 | c.867T>C (p.Gly289=) c.543T>C (p.Gly181=) c.882T>C (p.Gly294=) | COSMIC |
| X | g.108580714T>G | CA517991901 | COL4A5 | c.867T>G (p.Gly289=) c.543T>G (p.Gly181=) c.882T>G (p.Gly294=) | |
| X | g.108580715del | CA2695235191 | COL4A5 | c.868del (p.Glu290SerfsTer?) c.544del (p.Glu182SerfsTer?) c.883del (p.Glu295SerfsTer?) | |
| X | g.108580715G>A | CA413926306 | COL4A5 | c.868G>A (p.Glu290Lys) c.544G>A (p.Glu182Lys) c.883G>A (p.Glu295Lys) | |
| X | g.108580715G>C | CA413926308 | COL4A5 | c.868G>C (p.Glu290Gln) c.544G>C (p.Glu182Gln) c.883G>C (p.Glu295Gln) | |
| X | g.108580715G>T | CA413926310 | COL4A5 | c.868G>T (p.Glu290Ter) c.544G>T (p.Glu182Ter) c.883G>T (p.Glu295Ter) | ClinVar |
| X | g.108580716A>C | CA413926315 | COL4A5 | c.869A>C (p.Glu290Ala) c.545A>C (p.Glu182Ala) c.884A>C (p.Glu295Ala) | |
| X | g.108580716A>G | CA413926322 | COL4A5 | c.869A>G (p.Glu290Gly) c.545A>G (p.Glu182Gly) c.884A>G (p.Glu295Gly) | |
| X | g.108580716A>T | CA413926326 | COL4A5 | c.869A>T (p.Glu290Val) c.545A>T (p.Glu182Val) c.884A>T (p.Glu295Val) | |
| X | g.108580717G>A | CA517991902 | COL4A5 | c.870G>A (p.Glu290=) c.546G>A (p.Glu182=) c.885G>A (p.Glu295=) | |
| X | g.108580717G>C | CA413926328 | COL4A5 | c.870G>C (p.Glu290Asp) c.546G>C (p.Glu182Asp) c.885G>C (p.Glu295Asp) | |
| X | g.108580717G>T | CA413926329 | COL4A5 | c.870G>T (p.Glu290Asp) c.546G>T (p.Glu182Asp) c.885G>T (p.Glu295Asp) | |
| X | g.108580718C>A | CA413926330 | COL4A5 | c.871C>A (p.Gln291Lys) c.547C>A (p.Gln183Lys) c.886C>A (p.Gln296Lys) | |
| X | g.108580718C= | CA2450683094 | COL4A5 | c.871C= (p.Gln291=) c.547C= (p.Gln183=) c.886C= (p.Gln296=) | |
| X | g.108580718C>G | CA413926331 | COL4A5 | c.871C>G (p.Gln291Glu) c.547C>G (p.Gln183Glu) c.886C>G (p.Gln296Glu) | dbSNP |
| X | g.108580718C>T | CA413926335 | COL4A5 | c.871C>T (p.Gln291Ter) c.547C>T (p.Gln183Ter) c.886C>T (p.Gln296Ter) | |
| X | g.108580718_108580719delinsCA | CA2450683095 | COL4A5 | c.871_872delinsCA (p.Gln291=) c.547_548delinsCA (p.Gln183=) c.886_887delinsCA (p.Gln296=) | |
| X | g.108580719A= | CA2450683096 | COL4A5 | c.872A= (p.Gln291=) c.548A= (p.Gln183=) c.887A= (p.Gln296=) | |
| X | g.108580719A>C | CA10488596 | COL4A5 | c.872A>C (p.Gln291Pro) c.548A>C (p.Gln183Pro) c.887A>C (p.Gln296Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108580719A>G | CA413926350 | COL4A5 | c.872A>G (p.Gln291Arg) c.548A>G (p.Gln183Arg) c.887A>G (p.Gln296Arg) | |
| X | g.108580719A>T | CA413926345 | COL4A5 | c.872A>T (p.Gln291Leu) c.548A>T (p.Gln183Leu) c.887A>T (p.Gln296Leu) | |
| X | g.108580720del | CA258340 | COL4A5 | c.873del (p.Gly292GlufsTer?) c.549del (p.Gly184GlufsTer?) c.888del (p.Gly297GlufsTer?) | dbSNP |
| X | g.108580720A>C | CA413926377 | COL4A5 | c.873A>C (p.Gln291His) c.549A>C (p.Gln183His) c.888A>C (p.Gln296His) | |
| X | g.108580720A>G | CA517991903 | COL4A5 | c.873A>G (p.Gln291=) c.549A>G (p.Gln183=) c.888A>G (p.Gln296=) | gnomAD v4 |
| X | g.108580720A>T | CA413926381 | COL4A5 | c.873A>T (p.Gln291His) c.549A>T (p.Gln183His) c.888A>T (p.Gln296His) | |
| X | g.108580720_108580721delinsAG | CA2450683097 | COL4A5 | c.873_874delinsAG (p.Gln291=) c.549_550delinsAG (p.Gln183=) c.888_889delinsAG (p.Gln296=) | |
| X | g.108580721G>A | CA413926389 | COL4A5 | c.874G>A (p.Gly292Arg) c.550G>A (p.Gly184Arg) c.889G>A (p.Gly297Arg) | ClinVar dbSNP |
| X | g.108580721G>C | CA258341 | COL4A5 | c.874G>C (p.Gly292Arg) c.550G>C (p.Gly184Arg) c.889G>C (p.Gly297Arg) | ClinVar dbSNP |
| X | g.108580721G= | CA2450683098 | COL4A5 | c.874G= (p.Gly292=) c.550G= (p.Gly184=) c.889G= (p.Gly297=) | |
| X | g.108580721G>T | CA413926398 | COL4A5 | c.874G>T (p.Gly292Ter) c.550G>T (p.Gly184Ter) c.889G>T (p.Gly297Ter) | |
| X | g.108580722del | CA258345 | COL4A5 | c.875del (p.Gly292GlufsTer?) c.551del (p.Gly184GlufsTer?) c.890del (p.Gly297GlufsTer?) | ClinVar dbSNP |
| X | g.108580722G>A | CA413926404 | COL4A5 | c.875G>A (p.Gly292Glu) c.551G>A (p.Gly184Glu) c.890G>A (p.Gly297Glu) | ClinVar dbSNP |
| X | g.108580722G>C | CA413926408 | COL4A5 | c.875G>C (p.Gly292Ala) c.551G>C (p.Gly184Ala) c.890G>C (p.Gly297Ala) | |
| X | g.108580722G= | CA2450683099 | COL4A5 | c.875G= (p.Gly292=) c.551G= (p.Gly184=) c.890G= (p.Gly297=) | |
| X | g.108580722G>T | CA258343 | COL4A5 | c.875G>T (p.Gly292Val) c.551G>T (p.Gly184Val) c.890G>T (p.Gly297Val) | dbSNP |
| X | g.108580723A= | CA2450683100 | COL4A5 | c.876A= (p.Gly292=) c.552A= (p.Gly184=) c.891A= (p.Gly297=) | |
| X | g.108580723A>C | CA517991904 | COL4A5 | c.876A>C (p.Gly292=) c.552A>C (p.Gly184=) c.891A>C (p.Gly297=) | |
| X | g.108580723A>G | CA517991905 | COL4A5 | c.876A>G (p.Gly292=) c.552A>G (p.Gly184=) c.891A>G (p.Gly297=) | |
| X | g.108580723A>T | CA517991906 | COL4A5 | c.876A>T (p.Gly292=) c.552A>T (p.Gly184=) c.891A>T (p.Gly297=) | |
| X | g.108580724G>A | CA413926415 | COL4A5 | c.877G>A (p.Glu293Lys) c.553G>A (p.Glu185Lys) c.892G>A (p.Glu298Lys) | gnomAD v4 |
| X | g.108580724G>C | CA413926419 | COL4A5 | c.877G>C (p.Glu293Gln) c.553G>C (p.Glu185Gln) c.892G>C (p.Glu298Gln) | dbSNP gnomAD v4 |
| X | g.108580724G= | CA2450683101 | COL4A5 | c.877G= (p.Glu293=) c.553G= (p.Glu185=) c.892G= (p.Glu298=) | |
| X | g.108580724G>T | CA413926427 | COL4A5 | c.877G>T (p.Glu293Ter) c.553G>T (p.Glu185Ter) c.892G>T (p.Glu298Ter) |