| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108571416G>A | CA413919737 | COL4A5 | c.388G>A (p.Glu130Lys) c.64G>A (p.Glu22Lys) c.403G>A (p.Glu135Lys) | dbSNP gnomAD v4 |
| X | g.108571416G>C | CA413919738 | COL4A5 | c.388G>C (p.Glu130Gln) c.64G>C (p.Glu22Gln) c.403G>C (p.Glu135Gln) | |
| X | g.108571416G= | CA2450680105 | COL4A5 | c.388G= (p.Glu130=) c.64G= (p.Glu22=) c.403G= (p.Glu135=) | |
| X | g.108571416G>T | CA258239 | COL4A5 | c.388G>T (p.Glu130Ter) c.64G>T (p.Glu22Ter) c.403G>T (p.Glu135Ter) | dbSNP gnomAD v4 |
| X | g.108571417A>C | CA413919746 | COL4A5 | c.389A>C (p.Glu130Ala) c.65A>C (p.Glu22Ala) c.404A>C (p.Glu135Ala) | |
| X | g.108571417A>G | CA413919751 | COL4A5 | c.389A>G (p.Glu130Gly) c.65A>G (p.Glu22Gly) c.404A>G (p.Glu135Gly) | gnomAD v4 |
| X | g.108571417A>T | CA413919753 | COL4A5 | c.389A>T (p.Glu130Val) c.65A>T (p.Glu22Val) c.404A>T (p.Glu135Val) | |
| X | g.108571418A>C | CA413919764 | COL4A5 | c.390A>C (p.Glu130Asp) c.66A>C (p.Glu22Asp) c.405A>C (p.Glu135Asp) | |
| X | g.108571418A>G | CA517991532 | COL4A5 | c.390A>G (p.Glu130=) c.66A>G (p.Glu22=) c.405A>G (p.Glu135=) | |
| X | g.108571418A>T | CA413919762 | COL4A5 | c.390A>T (p.Glu130Asp) c.66A>T (p.Glu22Asp) c.405A>T (p.Glu135Asp) | |
| X | g.108571419C>A | CA10488448 | COL4A5 | c.391C>A (p.Arg131Ser) c.67C>A (p.Arg23Ser) c.406C>A (p.Arg136Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108571419C= | CA2450680106 | COL4A5 | c.391C= (p.Arg131=) c.67C= (p.Arg23=) c.406C= (p.Arg136=) | |
| X | g.108571419C>G | CA413919766 | COL4A5 | c.391C>G (p.Arg131Gly) c.67C>G (p.Arg23Gly) c.406C>G (p.Arg136Gly) | |
| X | g.108571419C>T | CA413919769 | COL4A5 | c.391C>T (p.Arg131Cys) c.67C>T (p.Arg23Cys) c.406C>T (p.Arg136Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108571420G>A | CA10488449 | COL4A5 | c.392G>A (p.Arg131His) c.68G>A (p.Arg23His) c.407G>A (p.Arg136His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108571420G>C | CA413919781 | COL4A5 | c.392G>C (p.Arg131Pro) c.68G>C (p.Arg23Pro) c.407G>C (p.Arg136Pro) | |
| X | g.108571420G= | CA2450680107 | COL4A5 | c.392G= (p.Arg131=) c.68G= (p.Arg23=) c.407G= (p.Arg136=) | |
| X | g.108571420G>T | CA413919782 | COL4A5 | c.392G>T (p.Arg131Leu) c.68G>T (p.Arg23Leu) c.407G>T (p.Arg136Leu) | gnomAD v4 |
| X | g.108571421T>A | CA517991533 | COL4A5 | c.393T>A (p.Arg131=) c.69T>A (p.Arg23=) c.408T>A (p.Arg136=) | |
| X | g.108571421T>C | CA517991535 | COL4A5 | c.393T>C (p.Arg131=) c.69T>C (p.Arg23=) c.408T>C (p.Arg136=) | |
| X | g.108571421T>G | CA517991534 | COL4A5 | c.393T>G (p.Arg131=) c.69T>G (p.Arg23=) c.408T>G (p.Arg136=) | |
| X | g.108571422G>A | CA413919783 | COL4A5 | c.394G>A (p.Gly132Arg) c.70G>A (p.Gly24Arg) c.409G>A (p.Gly137Arg) | ClinVar dbSNP |
| X | g.108571422G>C | CA413919784 | COL4A5 | c.394G>C (p.Gly132Arg) c.70G>C (p.Gly24Arg) c.409G>C (p.Gly137Arg) | |
| X | g.108571422G>T | CA413919786 | COL4A5 | c.394G>T (p.Gly132Ter) c.70G>T (p.Gly24Ter) c.409G>T (p.Gly137Ter) | COSMIC |
| X | g.108571422_108571423del | CA2579675821 | COL4A5 | c.394_395del (p.Gly132IlefsTer25) c.70_71del (p.Gly24IlefsTer25) c.409_410del (p.Gly137IlefsTer25) | |
| X | g.108571423G>A | CA413919789 | COL4A5 | c.395G>A (p.Gly132Glu) c.71G>A (p.Gly24Glu) c.410G>A (p.Gly137Glu) | ClinVar dbSNP |
| X | g.108571423G>C | CA413919791 | COL4A5 | c.395G>C (p.Gly132Ala) c.71G>C (p.Gly24Ala) c.410G>C (p.Gly137Ala) | |
| X | g.108571423G= | CA2450680108 | COL4A5 | c.395G= (p.Gly132=) c.71G= (p.Gly24=) c.410G= (p.Gly137=) | |
| X | g.108571423G>T | CA413919796 | COL4A5 | c.395G>T (p.Gly132Val) c.71G>T (p.Gly24Val) c.410G>T (p.Gly137Val) | COSMIC |
| X | g.108571424A>C | CA517991536 | COL4A5 | c.396A>C (p.Gly132=) c.72A>C (p.Gly24=) c.411A>C (p.Gly137=) | |
| X | g.108571424A>G | CA517991537 | COL4A5 | c.396A>G (p.Gly132=) c.72A>G (p.Gly24=) c.411A>G (p.Gly137=) | |
| X | g.108571424A>T | CA517991538 | COL4A5 | c.396A>T (p.Gly132=) c.72A>T (p.Gly24=) c.411A>T (p.Gly137=) | |
| X | g.108571425T>A | CA413919802 | COL4A5 | c.397T>A (p.Phe133Ile) c.73T>A (p.Phe25Ile) c.412T>A (p.Phe138Ile) | dbSNP |
| X | g.108571425T>C | CA413919808 | COL4A5 | c.397T>C (p.Phe133Leu) c.73T>C (p.Phe25Leu) c.412T>C (p.Phe138Leu) | |
| X | g.108571425T>G | CA413919803 | COL4A5 | c.397T>G (p.Phe133Val) c.73T>G (p.Phe25Val) c.412T>G (p.Phe138Val) | |
| X | g.108571425T= | CA2450680109 | COL4A5 | c.397T= (p.Phe133=) c.73T= (p.Phe25=) c.412T= (p.Phe138=) | |
| X | g.108571426T>A | CA413919813 | COL4A5 | c.398T>A (p.Phe133Tyr) c.74T>A (p.Phe25Tyr) c.413T>A (p.Phe138Tyr) | gnomAD v4 |
| X | g.108571426T>C | CA413919819 | COL4A5 | c.398T>C (p.Phe133Ser) c.74T>C (p.Phe25Ser) c.413T>C (p.Phe138Ser) | |
| X | g.108571426T>G | CA413919815 | COL4A5 | c.398T>G (p.Phe133Cys) c.74T>G (p.Phe25Cys) c.413T>G (p.Phe138Cys) | |
| X | g.108571427T>A | CA413919823 | COL4A5 | c.399T>A (p.Phe133Leu) c.75T>A (p.Phe25Leu) c.414T>A (p.Phe138Leu) | |
| X | g.108571427T>C | CA517991539 | COL4A5 | c.399T>C (p.Phe133=) c.75T>C (p.Phe25=) c.414T>C (p.Phe138=) | gnomAD v4 |
| X | g.108571427T>G | CA413919828 | COL4A5 | c.399T>G (p.Phe133Leu) c.75T>G (p.Phe25Leu) c.414T>G (p.Phe138Leu) | |
| X | g.108571428C>A | CA413919831 | COL4A5 | c.400C>A (p.Pro134Thr) c.76C>A (p.Pro26Thr) c.415C>A (p.Pro139Thr) | gnomAD v4 |
| X | g.108571428C>G | CA413919835 | COL4A5 | c.400C>G (p.Pro134Ala) c.76C>G (p.Pro26Ala) c.415C>G (p.Pro139Ala) | |
| X | g.108571428C>T | CA413919833 | COL4A5 | c.400C>T (p.Pro134Ser) c.76C>T (p.Pro26Ser) c.415C>T (p.Pro139Ser) | COSMIC COSMIC |
| X | g.108571429del | CA2579675822 | COL4A5 | c.401del (p.Pro134GlnfsTer21) c.77del (p.Pro26GlnfsTer21) c.416del (p.Pro139GlnfsTer21) | |
| X | g.108571429C>A | CA413919840 | COL4A5 | c.401C>A (p.Pro134Gln) c.77C>A (p.Pro26Gln) c.416C>A (p.Pro139Gln) | gnomAD v4 |
| X | g.108571429C>G | CA413919850 | COL4A5 | c.401C>G (p.Pro134Arg) c.77C>G (p.Pro26Arg) c.416C>G (p.Pro139Arg) | |
| X | g.108571429C>T | CA413919843 | COL4A5 | c.401C>T (p.Pro134Leu) c.77C>T (p.Pro26Leu) c.416C>T (p.Pro139Leu) | gnomAD v4 |
| X | g.108571430A= | CA2450680110 | COL4A5 | c.402A= (p.Pro134=) c.78A= (p.Pro26=) c.417A= (p.Pro139=) |