Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108582923del | CA2694413837 | COL4A5 | c.976del (p.Arg326GlyfsTer20) n.432del c.652del (p.Arg218GlyfsTer20) c.991del (p.Arg331GlyfsTer20) c.-734del (n.-734del) | gnomAD v4 |
X | g.108582923A>C | CA517991981 | COL4A5 | c.976A>C (p.Arg326=) n.432A>C c.652A>C (p.Arg218=) c.991A>C (p.Arg331=) c.-734A>C (n.-734A>C) | |
X | g.108582923A>G | CA413927661 | COL4A5 | c.976A>G (p.Arg326Gly) n.432A>G c.652A>G (p.Arg218Gly) c.991A>G (p.Arg331Gly) c.-734A>G (n.-734A>G) | |
X | g.108582923A>T | CA413927676 | COL4A5 | c.976A>T (p.Arg326Trp) n.432A>T c.652A>T (p.Arg218Trp) c.991A>T (p.Arg331Trp) c.-734A>T (n.-734A>T) | |
X | g.108582924G>A | CA413927677 | COL4A5 | c.977G>A (p.Arg326Lys) n.433G>A c.653G>A (p.Arg218Lys) c.992G>A (p.Arg331Lys) c.-733G>A (n.-733G>A) | |
X | g.108582924G>C | CA413927689 | COL4A5 | c.977G>C (p.Arg326Thr) n.433G>C c.653G>C (p.Arg218Thr) c.992G>C (p.Arg331Thr) c.-733G>C (n.-733G>C) | |
X | g.108582924G>T | CA413927691 | COL4A5 | c.977G>T (p.Arg326Met) n.433G>T c.653G>T (p.Arg218Met) c.992G>T (p.Arg331Met) c.-733G>T (n.-733G>T) | |
X | g.108582925G>A | CA517991982 | COL4A5 | c.978G>A (p.Arg326=) n.434G>A c.654G>A (p.Arg218=) c.993G>A (p.Arg331=) c.-732G>A (n.-732G>A) | |
X | g.108582925G>C | CA413927709 | COL4A5 | c.978G>C (p.Arg326Ser) n.434G>C c.654G>C (p.Arg218Ser) c.993G>C (p.Arg331Ser) c.-732G>C (n.-732G>C) | |
X | g.108582925G>T | CA413927711 | COL4A5 | c.978G>T (p.Arg326Ser) n.434G>T c.654G>T (p.Arg218Ser) c.993G>T (p.Arg331Ser) c.-732G>T (n.-732G>T) | |
X | g.108582927_108582930del | CA2695235197 | COL4A5 | c.980_983del (p.Asp327ValfsTer18) n.436_439del c.656_659del (p.Asp219ValfsTer18) c.995_998del (p.Asp332ValfsTer18) c.-730_-727del (n.-730_-727del) | |
X | g.108582926G>A | CA413927723 | COL4A5 | c.979G>A (p.Asp327Asn) n.435G>A c.655G>A (p.Asp219Asn) c.994G>A (p.Asp332Asn) c.-731G>A (n.-731G>A) | |
X | g.108582926G>C | CA413927716 | COL4A5 | c.979G>C (p.Asp327His) n.435G>C c.655G>C (p.Asp219His) c.994G>C (p.Asp332His) c.-731G>C (n.-731G>C) | |
X | g.108582926G>T | CA413927720 | COL4A5 | c.979G>T (p.Asp327Tyr) n.435G>T c.655G>T (p.Asp219Tyr) c.994G>T (p.Asp332Tyr) c.-731G>T (n.-731G>T) | |
X | g.108582927A= | CA2450683814 | COL4A5 | c.980A= (p.Asp327=) n.436A= c.656A= (p.Asp219=) c.995A= (p.Asp332=) c.-730A= (n.-730A=) | |
X | g.108582927A>C | CA413927728 | COL4A5 | c.980A>C (p.Asp327Ala) n.436A>C c.656A>C (p.Asp219Ala) c.995A>C (p.Asp332Ala) c.-730A>C (n.-730A>C) | |
X | g.108582927A>G | CA413927731 | COL4A5 | c.980A>G (p.Asp327Gly) n.436A>G c.656A>G (p.Asp219Gly) c.995A>G (p.Asp332Gly) c.-730A>G (n.-730A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108582927A>T | CA413927733 | COL4A5 | c.980A>T (p.Asp327Val) n.436A>T c.656A>T (p.Asp219Val) c.995A>T (p.Asp332Val) c.-730A>T (n.-730A>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108582928T>A | CA413927735 | COL4A5 | c.981T>A (p.Asp327Glu) n.437T>A c.657T>A (p.Asp219Glu) c.996T>A (p.Asp332Glu) c.-729T>A (n.-729T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108582928T>C | CA517991983 | COL4A5 | c.981T>C (p.Asp327=) n.437T>C c.657T>C (p.Asp219=) c.996T>C (p.Asp332=) c.-729T>C (n.-729T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.108582928T>G | CA413927739 | COL4A5 | c.981T>G (p.Asp327Glu) n.437T>G c.657T>G (p.Asp219Glu) c.996T>G (p.Asp332Glu) c.-729T>G (n.-729T>G) | |
X | g.108582928T= | CA2450683816 | COL4A5 | c.981T= (p.Asp327=) n.437T= c.657T= (p.Asp219=) c.996T= (p.Asp332=) c.-729T= (n.-729T=) | |
X | g.108582928_108582929delinsTG | CA2450683815 | COL4A5 | c.981_982delinsTG (p.Asp327=) n.437_438delinsTG c.657_658delinsTG (p.Asp219=) c.996_997delinsTG (p.Asp332=) c.-729_-728delinsTG (n.-729_-728delinsTG) | |
X | g.108582929G>A | CA413927746 | COL4A5 | c.982G>A (p.Gly328Ser) n.438G>A c.658G>A (p.Gly220Ser) c.997G>A (p.Gly333Ser) c.-728G>A (n.-728G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108582929G>C | CA413927748 | COL4A5 | c.982G>C (p.Gly328Arg) n.438G>C c.658G>C (p.Gly220Arg) c.997G>C (p.Gly333Arg) c.-728G>C (n.-728G>C) | |
X | g.108582929G= | CA2450683817 | COL4A5 | c.982G= (p.Gly328=) n.438G= c.658G= (p.Gly220=) c.997G= (p.Gly333=) c.-728G= (n.-728G=) | |
X | g.108582929G>T | CA413927751 | COL4A5 | c.982G>T (p.Gly328Cys) n.438G>T c.658G>T (p.Gly220Cys) c.997G>T (p.Gly333Cys) c.-728G>T (n.-728G>T) | |
X | g.108582930del | CA658656862 | COL4A5 | c.983del (p.Gly328ValfsTer18) n.439del c.659del (p.Gly220ValfsTer18) c.998del (p.Gly333ValfsTer18) c.-727del (n.-727del) | ClinVar dbSNP |
X | g.108582930G>A | CA413927758 | COL4A5 | c.983G>A (p.Gly328Asp) n.439G>A c.659G>A (p.Gly220Asp) c.998G>A (p.Gly333Asp) c.-727G>A (n.-727G>A) | ClinVar dbSNP |
X | g.108582930G>C | CA413927759 | COL4A5 | c.983G>C (p.Gly328Ala) n.439G>C c.659G>C (p.Gly220Ala) c.998G>C (p.Gly333Ala) c.-727G>C (n.-727G>C) | |
X | g.108582930G= | CA2450683818 | COL4A5 | c.983G= (p.Gly328=) n.439G= c.659G= (p.Gly220=) c.998G= (p.Gly333=) c.-727G= (n.-727G=) | |
X | g.108582930G>T | CA413927760 | COL4A5 | c.983G>T (p.Gly328Val) n.439G>T c.659G>T (p.Gly220Val) c.998G>T (p.Gly333Val) c.-727G>T (n.-727G>T) | ClinVar dbSNP |
X | g.108582931T>A | CA517991984 | COL4A5 | c.984T>A (p.Gly328=) n.440T>A c.660T>A (p.Gly220=) c.999T>A (p.Gly333=) c.-726T>A (n.-726T>A) | |
X | g.108582931T>C | CA517991986 | COL4A5 | c.984T>C (p.Gly328=) n.440T>C c.660T>C (p.Gly220=) c.999T>C (p.Gly333=) c.-726T>C (n.-726T>C) | |
X | g.108582931T>G | CA517991985 | COL4A5 | c.984T>G (p.Gly328=) n.440T>G c.660T>G (p.Gly220=) c.999T>G (p.Gly333=) c.-726T>G (n.-726T>G) | |
X | g.108582932G>A | CA413927767 | COL4A5 | c.985G>A (p.Glu329Lys) n.441G>A c.661G>A (p.Glu221Lys) c.1000G>A (p.Glu334Lys) c.-725G>A (n.-725G>A) | gnomAD v4 |
X | g.108582932G>C | CA413927771 | COL4A5 | c.985G>C (p.Glu329Gln) n.441G>C c.661G>C (p.Glu221Gln) c.1000G>C (p.Glu334Gln) c.-725G>C (n.-725G>C) | |
X | g.108582932G>T | CA413927764 | COL4A5 | c.985G>T (p.Glu329Ter) n.441G>T c.661G>T (p.Glu221Ter) c.1000G>T (p.Glu334Ter) c.-725G>T (n.-725G>T) | |
X | g.108582933A>C | CA413927776 | COL4A5 | c.986A>C (p.Glu329Ala) n.442A>C c.662A>C (p.Glu221Ala) c.1001A>C (p.Glu334Ala) c.-724A>C (n.-724A>C) | |
X | g.108582933A>G | CA413927779 | COL4A5 | c.986A>G (p.Glu329Gly) n.442A>G c.662A>G (p.Glu221Gly) c.1001A>G (p.Glu334Gly) c.-724A>G (n.-724A>G) | gnomAD v4 |
X | g.108582933A>T | CA413927782 | COL4A5 | c.986A>T (p.Glu329Val) n.442A>T c.662A>T (p.Glu221Val) c.1001A>T (p.Glu334Val) c.-724A>T (n.-724A>T) | |
X | g.108582936del | CA2694413844 | COL4A5 | c.989del (p.Lys330ArgfsTer16) n.445del c.665del (p.Lys222ArgfsTer16) c.1004del (p.Lys335ArgfsTer16) c.-721del (n.-721del) | ClinVar gnomAD v4 |
X | g.108582934A= | CA2450683819 | COL4A5 | c.987A= (p.Glu329=) n.443A= c.663A= (p.Glu221=) c.1002A= (p.Glu334=) c.-723A= (n.-723A=) | |
X | g.108582934A>C | CA413927784 | COL4A5 | c.987A>C (p.Glu329Asp) n.443A>C c.663A>C (p.Glu221Asp) c.1002A>C (p.Glu334Asp) c.-723A>C (n.-723A>C) | |
X | g.108582934A>G | CA517991987 | COL4A5 | c.987A>G (p.Glu329=) n.443A>G c.663A>G (p.Glu221=) c.1002A>G (p.Glu334=) c.-723A>G (n.-723A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108582934A>T | CA413927787 | COL4A5 | c.987A>T (p.Glu329Asp) n.443A>T c.663A>T (p.Glu221Asp) c.1002A>T (p.Glu334Asp) c.-723A>T (n.-723A>T) | |
X | g.108582935A>C | CA413927791 | COL4A5 | c.988A>C (p.Lys330Gln) n.444A>C c.664A>C (p.Lys222Gln) c.1003A>C (p.Lys335Gln) c.-722A>C (n.-722A>C) | |
X | g.108582935A>G | CA413927792 | COL4A5 | c.988A>G (p.Lys330Glu) n.444A>G c.664A>G (p.Lys222Glu) c.1003A>G (p.Lys335Glu) c.-722A>G (n.-722A>G) | gnomAD v4 |
X | g.108582935A>T | CA413927793 | COL4A5 | c.988A>T (p.Lys330Ter) n.444A>T c.664A>T (p.Lys222Ter) c.1003A>T (p.Lys335Ter) c.-722A>T (n.-722A>T) | |
X | g.108582936A>C | CA413927796 | COL4A5 | c.989A>C (p.Lys330Thr) n.445A>C c.665A>C (p.Lys222Thr) c.1004A>C (p.Lys335Thr) c.-721A>C (n.-721A>C) |