WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108696353_108696354delinsGT | CA2450722079 | COL4A5 | c.5051_5052delinsGT (p.Cys1684=) c.5033_5034delinsGT (p.Cys1678=) n.1545_1546delinsGT n.2739_2740delinsGT c.276_277delinsGT (n.276_277delinsGT) c.381_382delinsGT c.5042_5043delinsGT (p.Cys1681=) c.4727_4728delinsGT (p.Cys1576=) c.2624_2625delinsGT (p.Cys875=) c.5066_5067delinsGT (p.Cys1689=) c.5057_5058delinsGT (p.Cys1686=) c.5048_5049delinsGT (p.Cys1683=) c.3386_3387delinsGT (p.Cys1129=) | |
| X | g.108696354del | CA259156 | COL4A5 | c.5052del (p.Gln1685LysfsTer4) c.5034del (p.Gln1679LysfsTer4) n.1546del n.2740del c.277del (n.277del) c.382del c.5043del (p.Gln1682LysfsTer4) c.4728del (p.Gln1577LysfsTer4) c.2625del (p.Gln876LysfsTer4) c.5067del (p.Gln1690LysfsTer4) c.5058del (p.Gln1687LysfsTer4) c.5049del (p.Gln1684LysfsTer4) c.3387del (p.Gln1130LysfsTer4) | dbSNP |
| X | g.108696354T>A | CA414133148 | COL4A5 | c.5052T>A (p.Cys1684Ter) c.5034T>A (p.Cys1678Ter) n.1546T>A n.2740T>A c.277T>A (n.277T>A) c.382T>A c.5043T>A (p.Cys1681Ter) c.4728T>A (p.Cys1576Ter) c.2625T>A (p.Cys875Ter) c.5067T>A (p.Cys1689Ter) c.5058T>A (p.Cys1686Ter) c.5049T>A (p.Cys1683Ter) c.3387T>A (p.Cys1129Ter) | |
| X | g.108696354T>C | CA517926378 | COL4A5 | c.5052T>C (p.Cys1684=) c.5034T>C (p.Cys1678=) n.1546T>C n.2740T>C c.277T>C (n.277T>C) c.382T>C c.5043T>C (p.Cys1681=) c.4728T>C (p.Cys1576=) c.2625T>C (p.Cys875=) c.5067T>C (p.Cys1689=) c.5058T>C (p.Cys1686=) c.5049T>C (p.Cys1683=) c.3387T>C (p.Cys1129=) | |
| X | g.108696354T>G | CA259157 | COL4A5 | c.5052T>G (p.Cys1684Trp) c.5034T>G (p.Cys1678Trp) n.1546T>G n.2740T>G c.277T>G (n.277T>G) c.382T>G c.5043T>G (p.Cys1681Trp) c.4728T>G (p.Cys1576Trp) c.2625T>G (p.Cys875Trp) c.5067T>G (p.Cys1689Trp) c.5058T>G (p.Cys1686Trp) c.5049T>G (p.Cys1683Trp) c.3387T>G (p.Cys1129Trp) | dbSNP |
| X | g.108696354T= | CA2450722080 | COL4A5 | c.5052T= (p.Cys1684=) c.5034T= (p.Cys1678=) n.1546T= n.2740T= c.277T= (n.277T=) c.382T= c.5043T= (p.Cys1681=) c.4728T= (p.Cys1576=) c.2625T= (p.Cys875=) c.5067T= (p.Cys1689=) c.5058T= (p.Cys1686=) c.5049T= (p.Cys1683=) c.3387T= (p.Cys1129=) | |
| X | g.108696355C>A | CA414133149 | COL4A5 | c.5053C>A (p.Gln1685Lys) c.5035C>A (p.Gln1679Lys) n.1547C>A n.2741C>A c.278C>A (n.278C>A) c.383C>A c.5044C>A (p.Gln1682Lys) c.4729C>A (p.Gln1577Lys) c.2626C>A (p.Gln876Lys) c.5068C>A (p.Gln1690Lys) c.5059C>A (p.Gln1687Lys) c.5050C>A (p.Gln1684Lys) c.3388C>A (p.Gln1130Lys) | |
| X | g.108696355C>G | CA414133150 | COL4A5 | c.5053C>G (p.Gln1685Glu) c.5035C>G (p.Gln1679Glu) n.1547C>G n.2741C>G c.278C>G (n.278C>G) c.383C>G c.5044C>G (p.Gln1682Glu) c.4729C>G (p.Gln1577Glu) c.2626C>G (p.Gln876Glu) c.5068C>G (p.Gln1690Glu) c.5059C>G (p.Gln1687Glu) c.5050C>G (p.Gln1684Glu) c.3388C>G (p.Gln1130Glu) | |
| X | g.108696355C>T | CA414133151 | COL4A5 | c.5053C>T (p.Gln1685Ter) c.5035C>T (p.Gln1679Ter) n.1547C>T n.2741C>T c.278C>T (n.278C>T) c.383C>T c.5044C>T (p.Gln1682Ter) c.4729C>T (p.Gln1577Ter) c.2626C>T (p.Gln876Ter) c.5068C>T (p.Gln1690Ter) c.5059C>T (p.Gln1687Ter) c.5050C>T (p.Gln1684Ter) c.3388C>T (p.Gln1130Ter) | |
| X | g.108696356A= | CA2450722081 | COL4A5 | c.5054A= (p.Gln1685=) c.5036A= (p.Gln1679=) n.1548A= n.2742A= c.279A= (n.279A=) c.384A= c.5045A= (p.Gln1682=) c.4730A= (p.Gln1577=) c.2627A= (p.Gln876=) c.5069A= (p.Gln1690=) c.5060A= (p.Gln1687=) c.5051A= (p.Gln1684=) c.3389A= (p.Gln1130=) | |
| X | g.108696356A>C | CA414133152 | COL4A5 | c.5054A>C (p.Gln1685Pro) c.5036A>C (p.Gln1679Pro) n.1548A>C n.2742A>C c.279A>C (n.279A>C) c.384A>C c.5045A>C (p.Gln1682Pro) c.4730A>C (p.Gln1577Pro) c.2627A>C (p.Gln876Pro) c.5069A>C (p.Gln1690Pro) c.5060A>C (p.Gln1687Pro) c.5051A>C (p.Gln1684Pro) c.3389A>C (p.Gln1130Pro) | ClinVar |
| X | g.108696356A>G | CA414133153 | COL4A5 | c.5054A>G (p.Gln1685Arg) c.5036A>G (p.Gln1679Arg) n.1548A>G n.2742A>G c.279A>G (n.279A>G) c.384A>G c.5045A>G (p.Gln1682Arg) c.4730A>G (p.Gln1577Arg) c.2627A>G (p.Gln876Arg) c.5069A>G (p.Gln1690Arg) c.5060A>G (p.Gln1687Arg) c.5051A>G (p.Gln1684Arg) c.3389A>G (p.Gln1130Arg) | |
| X | g.108696356A>T | CA414133154 | COL4A5 | c.5054A>T (p.Gln1685Leu) c.5036A>T (p.Gln1679Leu) n.1548A>T n.2742A>T c.279A>T (n.279A>T) c.384A>T c.5045A>T (p.Gln1682Leu) c.4730A>T (p.Gln1577Leu) c.2627A>T (p.Gln876Leu) c.5069A>T (p.Gln1690Leu) c.5060A>T (p.Gln1687Leu) c.5051A>T (p.Gln1684Leu) c.3389A>T (p.Gln1130Leu) | |
| X | g.108696357A= | CA2450722082 | COL4A5 | c.5055A= (p.Gln1685=) c.5037A= (p.Gln1679=) n.1549A= n.2743A= c.280A= (n.280A=) c.385A= c.5046A= (p.Gln1682=) c.4731A= (p.Gln1577=) c.2628A= (p.Gln876=) c.5070A= (p.Gln1690=) c.5061A= (p.Gln1687=) c.5052A= (p.Gln1684=) c.3390A= (p.Gln1130=) | |
| X | g.108696357A>C | CA414133155 | COL4A5 | c.5055A>C (p.Gln1685His) c.5037A>C (p.Gln1679His) n.1549A>C n.2743A>C c.280A>C (n.280A>C) c.385A>C c.5046A>C (p.Gln1682His) c.4731A>C (p.Gln1577His) c.2628A>C (p.Gln876His) c.5070A>C (p.Gln1690His) c.5061A>C (p.Gln1687His) c.5052A>C (p.Gln1684His) c.3390A>C (p.Gln1130His) | |
| X | g.108696357A>G | CA517926380 | COL4A5 | c.5055A>G (p.Gln1685=) c.5037A>G (p.Gln1679=) n.1549A>G n.2743A>G c.280A>G (n.280A>G) c.385A>G c.5046A>G (p.Gln1682=) c.4731A>G (p.Gln1577=) c.2628A>G (p.Gln876=) c.5070A>G (p.Gln1690=) c.5061A>G (p.Gln1687=) c.5052A>G (p.Gln1684=) c.3390A>G (p.Gln1130=) | dbSNP |
| X | g.108696357A>T | CA414133156 | COL4A5 | c.5055A>T (p.Gln1685His) c.5037A>T (p.Gln1679His) n.1549A>T n.2743A>T c.280A>T (n.280A>T) c.385A>T c.5046A>T (p.Gln1682His) c.4731A>T (p.Gln1577His) c.2628A>T (p.Gln876His) c.5070A>T (p.Gln1690His) c.5061A>T (p.Gln1687His) c.5052A>T (p.Gln1684His) c.3390A>T (p.Gln1130His) | |
| X | g.108696358G>A | CA414133159 | COL4A5 | c.5056G>A (p.Val1686Met) c.5038G>A (p.Val1680Met) n.1550G>A n.2744G>A c.281G>A (n.281G>A) c.386G>A c.5047G>A (p.Val1683Met) c.4732G>A (p.Val1578Met) c.2629G>A (p.Val877Met) c.5071G>A (p.Val1691Met) c.5062G>A (p.Val1688Met) c.5053G>A (p.Val1685Met) c.3391G>A (p.Val1131Met) | |
| X | g.108696358G>C | CA414133158 | COL4A5 | c.5056G>C (p.Val1686Leu) c.5038G>C (p.Val1680Leu) n.1550G>C n.2744G>C c.281G>C (n.281G>C) c.386G>C c.5047G>C (p.Val1683Leu) c.4732G>C (p.Val1578Leu) c.2629G>C (p.Val877Leu) c.5071G>C (p.Val1691Leu) c.5062G>C (p.Val1688Leu) c.5053G>C (p.Val1685Leu) c.3391G>C (p.Val1131Leu) | |
| X | g.108696358G>T | CA414133157 | COL4A5 | c.5056G>T (p.Val1686Leu) c.5038G>T (p.Val1680Leu) n.1550G>T n.2744G>T c.281G>T (n.281G>T) c.386G>T c.5047G>T (p.Val1683Leu) c.4732G>T (p.Val1578Leu) c.2629G>T (p.Val877Leu) c.5071G>T (p.Val1691Leu) c.5062G>T (p.Val1688Leu) c.5053G>T (p.Val1685Leu) c.3391G>T (p.Val1131Leu) | |
| X | g.108696359T>A | CA414133160 | COL4A5 | c.5057T>A (p.Val1686Glu) c.5039T>A (p.Val1680Glu) n.1551T>A n.2745T>A c.282T>A (n.282T>A) c.387T>A c.5048T>A (p.Val1683Glu) c.4733T>A (p.Val1578Glu) c.2630T>A (p.Val877Glu) c.5072T>A (p.Val1691Glu) c.5063T>A (p.Val1688Glu) c.5054T>A (p.Val1685Glu) c.3392T>A (p.Val1131Glu) | |
| X | g.108696359T>C | CA414133161 | COL4A5 | c.5057T>C (p.Val1686Ala) c.5039T>C (p.Val1680Ala) n.1551T>C n.2745T>C c.282T>C (n.282T>C) c.387T>C c.5048T>C (p.Val1683Ala) c.4733T>C (p.Val1578Ala) c.2630T>C (p.Val877Ala) c.5072T>C (p.Val1691Ala) c.5063T>C (p.Val1688Ala) c.5054T>C (p.Val1685Ala) c.3392T>C (p.Val1131Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108696359T>G | CA414133162 | COL4A5 | c.5057T>G (p.Val1686Gly) c.5039T>G (p.Val1680Gly) n.1551T>G n.2745T>G c.282T>G (n.282T>G) c.387T>G c.5048T>G (p.Val1683Gly) c.4733T>G (p.Val1578Gly) c.2630T>G (p.Val877Gly) c.5072T>G (p.Val1691Gly) c.5063T>G (p.Val1688Gly) c.5054T>G (p.Val1685Gly) c.3392T>G (p.Val1131Gly) | |
| X | g.108696359T= | CA2450722083 | COL4A5 | c.5057T= (p.Val1686=) c.5039T= (p.Val1680=) n.1551T= n.2745T= c.282T= (n.282T=) c.387T= c.5048T= (p.Val1683=) c.4733T= (p.Val1578=) c.2630T= (p.Val877=) c.5072T= (p.Val1691=) c.5063T= (p.Val1688=) c.5054T= (p.Val1685=) c.3392T= (p.Val1131=) | |
| X | g.108696360G>A | CA517926384 | COL4A5 | c.5058G>A (p.Val1686=) c.5040G>A (p.Val1680=) n.1552G>A n.2746G>A c.283G>A (n.283G>A) c.388G>A c.5049G>A (p.Val1683=) c.4734G>A (p.Val1578=) c.2631G>A (p.Val877=) c.5073G>A (p.Val1691=) c.5064G>A (p.Val1688=) c.5055G>A (p.Val1685=) c.3393G>A (p.Val1131=) | gnomAD v4 |
| X | g.108696360G>C | CA517926385 | COL4A5 | c.5058G>C (p.Val1686=) c.5040G>C (p.Val1680=) n.1552G>C n.2746G>C c.283G>C (n.283G>C) c.388G>C c.5049G>C (p.Val1683=) c.4734G>C (p.Val1578=) c.2631G>C (p.Val877=) c.5073G>C (p.Val1691=) c.5064G>C (p.Val1688=) c.5055G>C (p.Val1685=) c.3393G>C (p.Val1131=) | |
| X | g.108696360G>T | CA517926386 | COL4A5 | c.5058G>T (p.Val1686=) c.5040G>T (p.Val1680=) n.1552G>T n.2746G>T c.283G>T (n.283G>T) c.388G>T c.5049G>T (p.Val1683=) c.4734G>T (p.Val1578=) c.2631G>T (p.Val877=) c.5073G>T (p.Val1691=) c.5064G>T (p.Val1688=) c.5055G>T (p.Val1685=) c.3393G>T (p.Val1131=) | |
| X | g.108696361T>A | CA414133163 | COL4A5 | c.5059T>A (p.Cys1687Ser) c.5041T>A (p.Cys1681Ser) n.1553T>A n.2747T>A c.284T>A (n.284T>A) c.389T>A c.5050T>A (p.Cys1684Ser) c.4735T>A (p.Cys1579Ser) c.2632T>A (p.Cys878Ser) c.5074T>A (p.Cys1692Ser) c.5065T>A (p.Cys1689Ser) c.5056T>A (p.Cys1686Ser) c.3394T>A (p.Cys1132Ser) | |
| X | g.108696361T>C | CA414133164 | COL4A5 | c.5059T>C (p.Cys1687Arg) c.5041T>C (p.Cys1681Arg) n.1553T>C n.2747T>C c.284T>C (n.284T>C) c.389T>C c.5050T>C (p.Cys1684Arg) c.4735T>C (p.Cys1579Arg) c.2632T>C (p.Cys878Arg) c.5074T>C (p.Cys1692Arg) c.5065T>C (p.Cys1689Arg) c.5056T>C (p.Cys1686Arg) c.3394T>C (p.Cys1132Arg) | |
| X | g.108696361T>G | CA414133165 | COL4A5 | c.5059T>G (p.Cys1687Gly) c.5041T>G (p.Cys1681Gly) n.1553T>G n.2747T>G c.284T>G (n.284T>G) c.389T>G c.5050T>G (p.Cys1684Gly) c.4735T>G (p.Cys1579Gly) c.2632T>G (p.Cys878Gly) c.5074T>G (p.Cys1692Gly) c.5065T>G (p.Cys1689Gly) c.5056T>G (p.Cys1686Gly) c.3394T>G (p.Cys1132Gly) | |
| X | g.108696361T= | CA2450722084 | COL4A5 | c.5059T= (p.Cys1687=) c.5041T= (p.Cys1681=) n.1553T= n.2747T= c.284T= (n.284T=) c.389T= c.5050T= (p.Cys1684=) c.4735T= (p.Cys1579=) c.2632T= (p.Cys878=) c.5074T= (p.Cys1692=) c.5065T= (p.Cys1689=) c.5056T= (p.Cys1686=) c.3394T= (p.Cys1132=) | |
| X | g.108696362G>A | CA414133166 | COL4A5 | c.5060G>A (p.Cys1687Tyr) c.5042G>A (p.Cys1681Tyr) n.1554G>A n.2748G>A c.285G>A (n.285G>A) c.390G>A c.5051G>A (p.Cys1684Tyr) c.4736G>A (p.Cys1579Tyr) c.2633G>A (p.Cys878Tyr) c.5075G>A (p.Cys1692Tyr) c.5066G>A (p.Cys1689Tyr) c.5057G>A (p.Cys1686Tyr) c.3395G>A (p.Cys1132Tyr) | |
| X | g.108696362G>C | CA414133167 | COL4A5 | c.5060G>C (p.Cys1687Ser) c.5042G>C (p.Cys1681Ser) n.1554G>C n.2748G>C c.285G>C (n.285G>C) c.390G>C c.5051G>C (p.Cys1684Ser) c.4736G>C (p.Cys1579Ser) c.2633G>C (p.Cys878Ser) c.5075G>C (p.Cys1692Ser) c.5066G>C (p.Cys1689Ser) c.5057G>C (p.Cys1686Ser) c.3395G>C (p.Cys1132Ser) | |
| X | g.108696362G= | CA2450722085 | COL4A5 | c.5060G= (p.Cys1687=) c.5042G= (p.Cys1681=) n.1554G= n.2748G= c.285G= (n.285G=) c.390G= c.5051G= (p.Cys1684=) c.4736G= (p.Cys1579=) c.2633G= (p.Cys878=) c.5075G= (p.Cys1692=) c.5066G= (p.Cys1689=) c.5057G= (p.Cys1686=) c.3395G= (p.Cys1132=) | |
| X | g.108696362G>T | CA259159 | COL4A5 | c.5060G>T (p.Cys1687Phe) c.5042G>T (p.Cys1681Phe) n.1554G>T n.2748G>T c.285G>T (n.285G>T) c.390G>T c.5051G>T (p.Cys1684Phe) c.4736G>T (p.Cys1579Phe) c.2633G>T (p.Cys878Phe) c.5075G>T (p.Cys1692Phe) c.5066G>T (p.Cys1689Phe) c.5057G>T (p.Cys1686Phe) c.3395G>T (p.Cys1132Phe) | dbSNP |
| X | g.108696363C>A | CA414133168 | COL4A5 | c.5061C>A (p.Cys1687Ter) c.5043C>A (p.Cys1681Ter) n.1555C>A n.2749C>A c.286C>A (n.286C>A) c.391C>A c.5052C>A (p.Cys1684Ter) c.4737C>A (p.Cys1579Ter) c.2634C>A (p.Cys878Ter) c.5076C>A (p.Cys1692Ter) c.5067C>A (p.Cys1689Ter) c.5058C>A (p.Cys1686Ter) c.3396C>A (p.Cys1132Ter) | gnomAD v4 |
| X | g.108696363C>G | CA414133169 | COL4A5 | c.5061C>G (p.Cys1687Trp) c.5043C>G (p.Cys1681Trp) n.1555C>G n.2749C>G c.286C>G (n.286C>G) c.391C>G c.5052C>G (p.Cys1684Trp) c.4737C>G (p.Cys1579Trp) c.2634C>G (p.Cys878Trp) c.5076C>G (p.Cys1692Trp) c.5067C>G (p.Cys1689Trp) c.5058C>G (p.Cys1686Trp) c.3396C>G (p.Cys1132Trp) | |
| X | g.108696363C>T | CA517926390 | COL4A5 | c.5061C>T (p.Cys1687=) c.5043C>T (p.Cys1681=) n.1555C>T n.2749C>T c.286C>T (n.286C>T) c.391C>T c.5052C>T (p.Cys1684=) c.4737C>T (p.Cys1579=) c.2634C>T (p.Cys878=) c.5076C>T (p.Cys1692=) c.5067C>T (p.Cys1689=) c.5058C>T (p.Cys1686=) c.3396C>T (p.Cys1132=) | gnomAD v4 |
| X | g.108696364A= | CA2450722086 | COL4A5 | c.5062A= (p.Met1688=) c.5044A= (p.Met1682=) n.1556A= n.2750A= c.287A= (n.287A=) c.392A= c.5053A= (p.Met1685=) c.4738A= (p.Met1580=) c.2635A= (p.Met879=) c.5077A= (p.Met1693=) c.5068A= (p.Met1690=) c.5059A= (p.Met1687=) c.3397A= (p.Met1133=) | |
| X | g.108696364A>C | CA414133170 | COL4A5 | c.5062A>C (p.Met1688Leu) c.5044A>C (p.Met1682Leu) n.1556A>C n.2750A>C c.287A>C (n.287A>C) c.392A>C c.5053A>C (p.Met1685Leu) c.4738A>C (p.Met1580Leu) c.2635A>C (p.Met879Leu) c.5077A>C (p.Met1693Leu) c.5068A>C (p.Met1690Leu) c.5059A>C (p.Met1687Leu) c.3397A>C (p.Met1133Leu) | |
| X | g.108696364A>G | CA10489462 | COL4A5 | c.5062A>G (p.Met1688Val) c.5044A>G (p.Met1682Val) n.1556A>G n.2750A>G c.287A>G (n.287A>G) c.392A>G c.5053A>G (p.Met1685Val) c.4738A>G (p.Met1580Val) c.2635A>G (p.Met879Val) c.5077A>G (p.Met1693Val) c.5068A>G (p.Met1690Val) c.5059A>G (p.Met1687Val) c.3397A>G (p.Met1133Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108696364A>T | CA414133171 | COL4A5 | c.5062A>T (p.Met1688Leu) c.5044A>T (p.Met1682Leu) n.1556A>T n.2750A>T c.287A>T (n.287A>T) c.392A>T c.5053A>T (p.Met1685Leu) c.4738A>T (p.Met1580Leu) c.2635A>T (p.Met879Leu) c.5077A>T (p.Met1693Leu) c.5068A>T (p.Met1690Leu) c.5059A>T (p.Met1687Leu) c.3397A>T (p.Met1133Leu) | |
| X | g.108696365T>A | CA414133173 | COL4A5 | c.5063T>A (p.Met1688Lys) c.5045T>A (p.Met1682Lys) n.1557T>A n.2751T>A c.288T>A (n.288T>A) c.393T>A c.5054T>A (p.Met1685Lys) c.4739T>A (p.Met1580Lys) c.2636T>A (p.Met879Lys) c.5078T>A (p.Met1693Lys) c.5069T>A (p.Met1690Lys) c.5060T>A (p.Met1687Lys) c.3398T>A (p.Met1133Lys) | |
| X | g.108696365T>C | CA414133174 | COL4A5 | c.5063T>C (p.Met1688Thr) c.5045T>C (p.Met1682Thr) n.1557T>C n.2751T>C c.288T>C (n.288T>C) c.393T>C c.5054T>C (p.Met1685Thr) c.4739T>C (p.Met1580Thr) c.2636T>C (p.Met879Thr) c.5078T>C (p.Met1693Thr) c.5069T>C (p.Met1690Thr) c.5060T>C (p.Met1687Thr) c.3398T>C (p.Met1133Thr) | gnomAD v4 |
| X | g.108696365T>G | CA414133172 | COL4A5 | c.5063T>G (p.Met1688Arg) c.5045T>G (p.Met1682Arg) n.1557T>G n.2751T>G c.288T>G (n.288T>G) c.393T>G c.5054T>G (p.Met1685Arg) c.4739T>G (p.Met1580Arg) c.2636T>G (p.Met879Arg) c.5078T>G (p.Met1693Arg) c.5069T>G (p.Met1690Arg) c.5060T>G (p.Met1687Arg) c.3398T>G (p.Met1133Arg) | |
| X | g.108696366G>A | CA414133175 | COL4A5 | c.5064G>A (p.Met1688Ile) c.5046G>A (p.Met1682Ile) n.1558G>A n.2752G>A c.289G>A (n.289G>A) c.394G>A c.5055G>A (p.Met1685Ile) c.4740G>A (p.Met1580Ile) c.2637G>A (p.Met879Ile) c.5079G>A (p.Met1693Ile) c.5070G>A (p.Met1690Ile) c.5061G>A (p.Met1687Ile) c.3399G>A (p.Met1133Ile) | |
| X | g.108696366G>C | CA414133176 | COL4A5 | c.5064G>C (p.Met1688Ile) c.5046G>C (p.Met1682Ile) n.1558G>C n.2752G>C c.289G>C (n.289G>C) c.394G>C c.5055G>C (p.Met1685Ile) c.4740G>C (p.Met1580Ile) c.2637G>C (p.Met879Ile) c.5079G>C (p.Met1693Ile) c.5070G>C (p.Met1690Ile) c.5061G>C (p.Met1687Ile) c.3399G>C (p.Met1133Ile) | |
| X | g.108696366G= | CA2450722087 | COL4A5 | c.5064G= (p.Met1688=) c.5046G= (p.Met1682=) n.1558G= n.2752G= c.289G= (n.289G=) c.394G= c.5055G= (p.Met1685=) c.4740G= (p.Met1580=) c.2637G= (p.Met879=) c.5079G= (p.Met1693=) c.5070G= (p.Met1690=) c.5061G= (p.Met1687=) c.3399G= (p.Met1133=) | |
| X | g.108696366G>T | CA334063944 | COL4A5 | c.5064G>T (p.Met1688Ile) c.5046G>T (p.Met1682Ile) n.1558G>T n.2752G>T c.289G>T (n.289G>T) c.394G>T c.5055G>T (p.Met1685Ile) c.4740G>T (p.Met1580Ile) c.2637G>T (p.Met879Ile) c.5079G>T (p.Met1693Ile) c.5070G>T (p.Met1690Ile) c.5061G>T (p.Met1687Ile) c.3399G>T (p.Met1133Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108696367A>C | CA414133177 | COL4A5 | c.5065A>C (p.Lys1689Gln) c.5047A>C (p.Lys1683Gln) n.1559A>C n.2753A>C c.290A>C (n.290A>C) c.395A>C c.5056A>C (p.Lys1686Gln) c.4741A>C (p.Lys1581Gln) c.2638A>C (p.Lys880Gln) c.5080A>C (p.Lys1694Gln) c.5071A>C (p.Lys1691Gln) c.5062A>C (p.Lys1688Gln) c.3400A>C (p.Lys1134Gln) |