| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108582904_108582921dup | CA2695235195 | COL4A5 | c.957_974dup (p.Gly325_Arg326insTyrProGlyGluProGly) n.413_430dup c.633_650dup (p.Gly217_Arg218insTyrProGlyGluProGly) c.972_989dup (p.Gly330_Arg331insTyrProGlyGluProGly) c.-753_-736dup (n.-753_-736dup) | |
| X | g.108582904_108582921del | CA2739289603 | COL4A5 | c.957_974del (p.Tyr320_Gly325del) n.413_430del c.633_650del (p.Tyr212_Gly217del) c.972_989del (p.Tyr325_Gly330del) c.-753_-736del (n.-753_-736del) | |
| X | g.108582921G>A | CA255266 | COL4A5 | c.974G>A (p.Gly325Glu) n.430G>A c.650G>A (p.Gly217Glu) c.989G>A (p.Gly330Glu) c.-736G>A (n.-736G>A) | ClinVar dbSNP |
| X | g.108582921G>C | CA413927652 | COL4A5 | c.974G>C (p.Gly325Ala) n.430G>C c.650G>C (p.Gly217Ala) c.989G>C (p.Gly330Ala) c.-736G>C (n.-736G>C) | |
| X | g.108582921G= | CA2450683813 | COL4A5 | c.974G= (p.Gly325=) n.430G= c.650G= (p.Gly217=) c.989G= (p.Gly330=) c.-736G= (n.-736G=) | |
| X | g.108582921G>T | CA413927658 | COL4A5 | c.974G>T (p.Gly325Val) n.430G>T c.650G>T (p.Gly217Val) c.989G>T (p.Gly330Val) c.-736G>T (n.-736G>T) | |
| X | g.108582922A>C | CA517991978 | COL4A5 | c.975A>C (p.Gly325=) n.431A>C c.651A>C (p.Gly217=) c.990A>C (p.Gly330=) c.-735A>C (n.-735A>C) | |
| X | g.108582922A>G | CA517991979 | COL4A5 | c.975A>G (p.Gly325=) n.431A>G c.651A>G (p.Gly217=) c.990A>G (p.Gly330=) c.-735A>G (n.-735A>G) | |
| X | g.108582922A>T | CA517991980 | COL4A5 | c.975A>T (p.Gly325=) n.431A>T c.651A>T (p.Gly217=) c.990A>T (p.Gly330=) c.-735A>T (n.-735A>T) | |
| 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) |