Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108156997_108157052dup | CA2694428809 | COL4A6 | c.5025_*7dup (n.5025_*7dup) c.5028_*7dup (n.5028_*7dup) c.5076_*7dup (n.5076_*7dup) c.4854_*7dup (n.4854_*7dup) c.4989_*7dup (n.4989_*7dup) c.4953_*7dup (n.4953_*7dup) c.5079_*7dup (n.5079_*7dup) c.5007_*7dup (n.5007_*7dup) c.4995_*7dup (n.4995_*7dup) | gnomAD v4 |
X | g.108157010T>A | CA413847839 | COL4A6 | c.5063A>T (p.Lys1688Ile) c.5066A>T (p.Lys1689Ile) c.5114A>T (p.Lys1705Ile) c.4892A>T (p.Lys1631Ile) c.5027A>T (p.Lys1676Ile) c.4991A>T (p.Lys1664Ile) c.5117A>T (p.Lys1706Ile) c.5045A>T (p.Lys1682Ile) c.5033A>T (p.Lys1678Ile) | |
X | g.108157010T>C | CA413847843 | COL4A6 | c.5063A>G (p.Lys1688Arg) c.5066A>G (p.Lys1689Arg) c.5114A>G (p.Lys1705Arg) c.4892A>G (p.Lys1631Arg) c.5027A>G (p.Lys1676Arg) c.4991A>G (p.Lys1664Arg) c.5117A>G (p.Lys1706Arg) c.5045A>G (p.Lys1682Arg) c.5033A>G (p.Lys1678Arg) | |
X | g.108157010T>G | CA413847841 | COL4A6 | c.5063A>C (p.Lys1688Thr) c.5066A>C (p.Lys1689Thr) c.5114A>C (p.Lys1705Thr) c.4892A>C (p.Lys1631Thr) c.5027A>C (p.Lys1676Thr) c.4991A>C (p.Lys1664Thr) c.5117A>C (p.Lys1706Thr) c.5045A>C (p.Lys1682Thr) c.5033A>C (p.Lys1678Thr) | |
X | g.108157011T>A | CA413847844 | COL4A6 | c.5062A>T (p.Lys1688Ter) c.5065A>T (p.Lys1689Ter) c.5113A>T (p.Lys1705Ter) c.4891A>T (p.Lys1631Ter) c.5026A>T (p.Lys1676Ter) c.4990A>T (p.Lys1664Ter) c.5116A>T (p.Lys1706Ter) c.5044A>T (p.Lys1682Ter) c.5032A>T (p.Lys1678Ter) | |
X | g.108157011T>C | CA413847846 | COL4A6 | c.5062A>G (p.Lys1688Glu) c.5065A>G (p.Lys1689Glu) c.5113A>G (p.Lys1705Glu) c.4891A>G (p.Lys1631Glu) c.5026A>G (p.Lys1676Glu) c.4990A>G (p.Lys1664Glu) c.5116A>G (p.Lys1706Glu) c.5044A>G (p.Lys1682Glu) c.5032A>G (p.Lys1678Glu) | |
X | g.108157011T>G | CA413847848 | COL4A6 | c.5062A>C (p.Lys1688Gln) c.5065A>C (p.Lys1689Gln) c.5113A>C (p.Lys1705Gln) c.4891A>C (p.Lys1631Gln) c.5026A>C (p.Lys1676Gln) c.4990A>C (p.Lys1664Gln) c.5116A>C (p.Lys1706Gln) c.5044A>C (p.Lys1682Gln) c.5032A>C (p.Lys1678Gln) | |
X | g.108157012C>A | CA413847850 | COL4A6 | c.5061G>T (p.Met1687Ile) c.5064G>T (p.Met1688Ile) c.5112G>T (p.Met1704Ile) c.4890G>T (p.Met1630Ile) c.5025G>T (p.Met1675Ile) c.4989G>T (p.Met1663Ile) c.5115G>T (p.Met1705Ile) c.5043G>T (p.Met1681Ile) c.5031G>T (p.Met1677Ile) | |
X | g.108157012C>G | CA413847851 | COL4A6 | c.5061G>C (p.Met1687Ile) c.5064G>C (p.Met1688Ile) c.5112G>C (p.Met1704Ile) c.4890G>C (p.Met1630Ile) c.5025G>C (p.Met1675Ile) c.4989G>C (p.Met1663Ile) c.5115G>C (p.Met1705Ile) c.5043G>C (p.Met1681Ile) c.5031G>C (p.Met1677Ile) | |
X | g.108157012C>T | CA413847853 | COL4A6 | c.5061G>A (p.Met1687Ile) c.5064G>A (p.Met1688Ile) c.5112G>A (p.Met1704Ile) c.4890G>A (p.Met1630Ile) c.5025G>A (p.Met1675Ile) c.4989G>A (p.Met1663Ile) c.5115G>A (p.Met1705Ile) c.5043G>A (p.Met1681Ile) c.5031G>A (p.Met1677Ile) | gnomAD v4 |
X | g.108157013A>C | CA413847858 | COL4A6 | c.5060T>G (p.Met1687Arg) c.5063T>G (p.Met1688Arg) c.5111T>G (p.Met1704Arg) c.4889T>G (p.Met1630Arg) c.5024T>G (p.Met1675Arg) c.4988T>G (p.Met1663Arg) c.5114T>G (p.Met1705Arg) c.5042T>G (p.Met1681Arg) c.5030T>G (p.Met1677Arg) | |
X | g.108157013A>G | CA413847855 | COL4A6 | c.5060T>C (p.Met1687Thr) c.5063T>C (p.Met1688Thr) c.5111T>C (p.Met1704Thr) c.4889T>C (p.Met1630Thr) c.5024T>C (p.Met1675Thr) c.4988T>C (p.Met1663Thr) c.5114T>C (p.Met1705Thr) c.5042T>C (p.Met1681Thr) c.5030T>C (p.Met1677Thr) | |
X | g.108157013A>T | CA413847856 | COL4A6 | c.5060T>A (p.Met1687Lys) c.5063T>A (p.Met1688Lys) c.5111T>A (p.Met1704Lys) c.4889T>A (p.Met1630Lys) c.5024T>A (p.Met1675Lys) c.4988T>A (p.Met1663Lys) c.5114T>A (p.Met1705Lys) c.5042T>A (p.Met1681Lys) c.5030T>A (p.Met1677Lys) | |
X | g.108157014T>A | CA413847861 | COL4A6 | c.5059A>T (p.Met1687Leu) c.5062A>T (p.Met1688Leu) c.5110A>T (p.Met1704Leu) c.4888A>T (p.Met1630Leu) c.5023A>T (p.Met1675Leu) c.4987A>T (p.Met1663Leu) c.5113A>T (p.Met1705Leu) c.5041A>T (p.Met1681Leu) c.5029A>T (p.Met1677Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108157014T>C | CA413847862 | COL4A6 | c.5059A>G (p.Met1687Val) c.5062A>G (p.Met1688Val) c.5110A>G (p.Met1704Val) c.4888A>G (p.Met1630Val) c.5023A>G (p.Met1675Val) c.4987A>G (p.Met1663Val) c.5113A>G (p.Met1705Val) c.5041A>G (p.Met1681Val) c.5029A>G (p.Met1677Val) | ClinVar |
X | g.108157014T>G | CA413847863 | COL4A6 | c.5059A>C (p.Met1687Leu) c.5062A>C (p.Met1688Leu) c.5110A>C (p.Met1704Leu) c.4888A>C (p.Met1630Leu) c.5023A>C (p.Met1675Leu) c.4987A>C (p.Met1663Leu) c.5113A>C (p.Met1705Leu) c.5041A>C (p.Met1681Leu) c.5029A>C (p.Met1677Leu) | |
X | g.108157014T= | CA2450541931 | COL4A6 | c.5059A= (p.Met1687=) c.5062A= (p.Met1688=) c.5110A= (p.Met1704=) c.4888A= (p.Met1630=) c.5023A= (p.Met1675=) c.4987A= (p.Met1663=) c.5113A= (p.Met1705=) c.5041A= (p.Met1681=) c.5029A= (p.Met1677=) | |
X | g.108157015A>C | CA413847865 | COL4A6 | c.5058T>G (p.Cys1686Trp) c.5061T>G (p.Cys1687Trp) c.5109T>G (p.Cys1703Trp) c.4887T>G (p.Cys1629Trp) c.5022T>G (p.Cys1674Trp) c.4986T>G (p.Cys1662Trp) c.5112T>G (p.Cys1704Trp) c.5040T>G (p.Cys1680Trp) c.5028T>G (p.Cys1676Trp) | |
X | g.108157015A>G | CA518100581 | COL4A6 | c.5058T>C (p.Cys1686=) c.5061T>C (p.Cys1687=) c.5109T>C (p.Cys1703=) c.4887T>C (p.Cys1629=) c.5022T>C (p.Cys1674=) c.4986T>C (p.Cys1662=) c.5112T>C (p.Cys1704=) c.5040T>C (p.Cys1680=) c.5028T>C (p.Cys1676=) | gnomAD v4 |
X | g.108157015A>T | CA413847866 | COL4A6 | c.5058T>A (p.Cys1686Ter) c.5061T>A (p.Cys1687Ter) c.5109T>A (p.Cys1703Ter) c.4887T>A (p.Cys1629Ter) c.5022T>A (p.Cys1674Ter) c.4986T>A (p.Cys1662Ter) c.5112T>A (p.Cys1704Ter) c.5040T>A (p.Cys1680Ter) c.5028T>A (p.Cys1676Ter) | |
X | g.108157017_108157035del | CA2694428828 | COL4A6 | c.5040_5058del (p.Ser1681Ter) c.5043_5061del (p.Ser1682Ter) c.5091_5109del (p.Ser1698Ter) c.4869_4887del (p.Ser1624Ter) c.5004_5022del (p.Ser1669Ter) c.4968_4986del (p.Ser1657Ter) c.5094_5112del (p.Ser1699Ter) c.5022_5040del (p.Ser1675Ter) c.5010_5028del (p.Ser1671Ter) | gnomAD v4 |
X | g.108157016C>A | CA413847868 | COL4A6 | c.5057G>T (p.Cys1686Phe) c.5060G>T (p.Cys1687Phe) c.5108G>T (p.Cys1703Phe) c.4886G>T (p.Cys1629Phe) c.5021G>T (p.Cys1674Phe) c.4985G>T (p.Cys1662Phe) c.5111G>T (p.Cys1704Phe) c.5039G>T (p.Cys1680Phe) c.5027G>T (p.Cys1676Phe) | |
X | g.108157016C>G | CA413847872 | COL4A6 | c.5057G>C (p.Cys1686Ser) c.5060G>C (p.Cys1687Ser) c.5108G>C (p.Cys1703Ser) c.4886G>C (p.Cys1629Ser) c.5021G>C (p.Cys1674Ser) c.4985G>C (p.Cys1662Ser) c.5111G>C (p.Cys1704Ser) c.5039G>C (p.Cys1680Ser) c.5027G>C (p.Cys1676Ser) | |
X | g.108157016C>T | CA413847870 | COL4A6 | c.5057G>A (p.Cys1686Tyr) c.5060G>A (p.Cys1687Tyr) c.5108G>A (p.Cys1703Tyr) c.4886G>A (p.Cys1629Tyr) c.5021G>A (p.Cys1674Tyr) c.4985G>A (p.Cys1662Tyr) c.5111G>A (p.Cys1704Tyr) c.5039G>A (p.Cys1680Tyr) c.5027G>A (p.Cys1676Tyr) | |
X | g.108157017A>C | CA413847874 | COL4A6 | c.5056T>G (p.Cys1686Gly) c.5059T>G (p.Cys1687Gly) c.5107T>G (p.Cys1703Gly) c.4885T>G (p.Cys1629Gly) c.5020T>G (p.Cys1674Gly) c.4984T>G (p.Cys1662Gly) c.5110T>G (p.Cys1704Gly) c.5038T>G (p.Cys1680Gly) c.5026T>G (p.Cys1676Gly) | |
X | g.108157017A>G | CA413847876 | COL4A6 | c.5056T>C (p.Cys1686Arg) c.5059T>C (p.Cys1687Arg) c.5107T>C (p.Cys1703Arg) c.4885T>C (p.Cys1629Arg) c.5020T>C (p.Cys1674Arg) c.4984T>C (p.Cys1662Arg) c.5110T>C (p.Cys1704Arg) c.5038T>C (p.Cys1680Arg) c.5026T>C (p.Cys1676Arg) | |
X | g.108157017A>T | CA413847878 | COL4A6 | c.5056T>A (p.Cys1686Ser) c.5059T>A (p.Cys1687Ser) c.5107T>A (p.Cys1703Ser) c.4885T>A (p.Cys1629Ser) c.5020T>A (p.Cys1674Ser) c.4984T>A (p.Cys1662Ser) c.5110T>A (p.Cys1704Ser) c.5038T>A (p.Cys1680Ser) c.5026T>A (p.Cys1676Ser) | |
X | g.108157018C>A | CA518100591 | COL4A6 | c.5055G>T (p.Val1685=) c.5058G>T (p.Val1686=) c.5106G>T (p.Val1702=) c.4884G>T (p.Val1628=) c.5019G>T (p.Val1673=) c.4983G>T (p.Val1661=) c.5109G>T (p.Val1703=) c.5037G>T (p.Val1679=) c.5025G>T (p.Val1675=) | |
X | g.108157018C>G | CA518100589 | COL4A6 | c.5055G>C (p.Val1685=) c.5058G>C (p.Val1686=) c.5106G>C (p.Val1702=) c.4884G>C (p.Val1628=) c.5019G>C (p.Val1673=) c.4983G>C (p.Val1661=) c.5109G>C (p.Val1703=) c.5037G>C (p.Val1679=) c.5025G>C (p.Val1675=) | gnomAD v4 |
X | g.108157018C>T | CA518100588 | COL4A6 | c.5055G>A (p.Val1685=) c.5058G>A (p.Val1686=) c.5106G>A (p.Val1702=) c.4884G>A (p.Val1628=) c.5019G>A (p.Val1673=) c.4983G>A (p.Val1661=) c.5109G>A (p.Val1703=) c.5037G>A (p.Val1679=) c.5025G>A (p.Val1675=) | |
X | g.108157019A>C | CA413847879 | COL4A6 | c.5054T>G (p.Val1685Gly) c.5057T>G (p.Val1686Gly) c.5105T>G (p.Val1702Gly) c.4883T>G (p.Val1628Gly) c.5018T>G (p.Val1673Gly) c.4982T>G (p.Val1661Gly) c.5108T>G (p.Val1703Gly) c.5036T>G (p.Val1679Gly) c.5024T>G (p.Val1675Gly) | |
X | g.108157019A>G | CA413847880 | COL4A6 | c.5054T>C (p.Val1685Ala) c.5057T>C (p.Val1686Ala) c.5105T>C (p.Val1702Ala) c.4883T>C (p.Val1628Ala) c.5018T>C (p.Val1673Ala) c.4982T>C (p.Val1661Ala) c.5108T>C (p.Val1703Ala) c.5036T>C (p.Val1679Ala) c.5024T>C (p.Val1675Ala) | |
X | g.108157019A>T | CA413847882 | COL4A6 | c.5054T>A (p.Val1685Glu) c.5057T>A (p.Val1686Glu) c.5105T>A (p.Val1702Glu) c.4883T>A (p.Val1628Glu) c.5018T>A (p.Val1673Glu) c.4982T>A (p.Val1661Glu) c.5108T>A (p.Val1703Glu) c.5036T>A (p.Val1679Glu) c.5024T>A (p.Val1675Glu) | |
X | g.108157020C>A | CA413847885 | COL4A6 | c.5053G>T (p.Val1685Leu) c.5056G>T (p.Val1686Leu) c.5104G>T (p.Val1702Leu) c.4882G>T (p.Val1628Leu) c.5017G>T (p.Val1673Leu) c.4981G>T (p.Val1661Leu) c.5107G>T (p.Val1703Leu) c.5035G>T (p.Val1679Leu) c.5023G>T (p.Val1675Leu) | gnomAD v4 |
X | g.108157020C>G | CA413847886 | COL4A6 | c.5053G>C (p.Val1685Leu) c.5056G>C (p.Val1686Leu) c.5104G>C (p.Val1702Leu) c.4882G>C (p.Val1628Leu) c.5017G>C (p.Val1673Leu) c.4981G>C (p.Val1661Leu) c.5107G>C (p.Val1703Leu) c.5035G>C (p.Val1679Leu) c.5023G>C (p.Val1675Leu) | |
X | g.108157020C>T | CA413847888 | COL4A6 | c.5053G>A (p.Val1685Met) c.5056G>A (p.Val1686Met) c.5104G>A (p.Val1702Met) c.4882G>A (p.Val1628Met) c.5017G>A (p.Val1673Met) c.4981G>A (p.Val1661Met) c.5107G>A (p.Val1703Met) c.5035G>A (p.Val1679Met) c.5023G>A (p.Val1675Met) | |
X | g.108157021C>A | CA413847891 | COL4A6 | c.5052G>T (p.Gln1684His) c.5055G>T (p.Gln1685His) c.5103G>T (p.Gln1701His) c.4881G>T (p.Gln1627His) c.5016G>T (p.Gln1672His) c.4980G>T (p.Gln1660His) c.5106G>T (p.Gln1702His) c.5034G>T (p.Gln1678His) c.5022G>T (p.Gln1674His) | |
X | g.108157021C= | CA2450541932 | COL4A6 | c.5052G= (p.Gln1684=) c.5055G= (p.Gln1685=) c.5103G= (p.Gln1701=) c.4881G= (p.Gln1627=) c.5016G= (p.Gln1672=) c.4980G= (p.Gln1660=) c.5106G= (p.Gln1702=) c.5034G= (p.Gln1678=) c.5022G= (p.Gln1674=) | |
X | g.108157021C>G | CA10487071 | COL4A6 | c.5052G>C (p.Gln1684His) c.5055G>C (p.Gln1685His) c.5103G>C (p.Gln1701His) c.4881G>C (p.Gln1627His) c.5016G>C (p.Gln1672His) c.4980G>C (p.Gln1660His) c.5106G>C (p.Gln1702His) c.5034G>C (p.Gln1678His) c.5022G>C (p.Gln1674His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108157021C>T | CA518100598 | COL4A6 | c.5052G>A (p.Gln1684=) c.5055G>A (p.Gln1685=) c.5103G>A (p.Gln1701=) c.4881G>A (p.Gln1627=) c.5016G>A (p.Gln1672=) c.4980G>A (p.Gln1660=) c.5106G>A (p.Gln1702=) c.5034G>A (p.Gln1678=) c.5022G>A (p.Gln1674=) | |
X | g.108157022T>A | CA413847893 | COL4A6 | c.5051A>T (p.Gln1684Leu) c.5054A>T (p.Gln1685Leu) c.5102A>T (p.Gln1701Leu) c.4880A>T (p.Gln1627Leu) c.5015A>T (p.Gln1672Leu) c.4979A>T (p.Gln1660Leu) c.5105A>T (p.Gln1702Leu) c.5033A>T (p.Gln1678Leu) c.5021A>T (p.Gln1674Leu) | |
X | g.108157022T>C | CA413847897 | COL4A6 | c.5051A>G (p.Gln1684Arg) c.5054A>G (p.Gln1685Arg) c.5102A>G (p.Gln1701Arg) c.4880A>G (p.Gln1627Arg) c.5015A>G (p.Gln1672Arg) c.4979A>G (p.Gln1660Arg) c.5105A>G (p.Gln1702Arg) c.5033A>G (p.Gln1678Arg) c.5021A>G (p.Gln1674Arg) | |
X | g.108157022T>G | CA413847895 | COL4A6 | c.5051A>C (p.Gln1684Pro) c.5054A>C (p.Gln1685Pro) c.5102A>C (p.Gln1701Pro) c.4880A>C (p.Gln1627Pro) c.5015A>C (p.Gln1672Pro) c.4979A>C (p.Gln1660Pro) c.5105A>C (p.Gln1702Pro) c.5033A>C (p.Gln1678Pro) c.5021A>C (p.Gln1674Pro) | |
X | g.108157023G>A | CA413847899 | COL4A6 | c.5050C>T (p.Gln1684Ter) c.5053C>T (p.Gln1685Ter) c.5101C>T (p.Gln1701Ter) c.4879C>T (p.Gln1627Ter) c.5014C>T (p.Gln1672Ter) c.4978C>T (p.Gln1660Ter) c.5104C>T (p.Gln1702Ter) c.5032C>T (p.Gln1678Ter) c.5020C>T (p.Gln1674Ter) | |
X | g.108157023G>C | CA413847900 | COL4A6 | c.5050C>G (p.Gln1684Glu) c.5053C>G (p.Gln1685Glu) c.5101C>G (p.Gln1701Glu) c.4879C>G (p.Gln1627Glu) c.5014C>G (p.Gln1672Glu) c.4978C>G (p.Gln1660Glu) c.5104C>G (p.Gln1702Glu) c.5032C>G (p.Gln1678Glu) c.5020C>G (p.Gln1674Glu) | |
X | g.108157023G>T | CA413847902 | COL4A6 | c.5050C>A (p.Gln1684Lys) c.5053C>A (p.Gln1685Lys) c.5101C>A (p.Gln1701Lys) c.4879C>A (p.Gln1627Lys) c.5014C>A (p.Gln1672Lys) c.4978C>A (p.Gln1660Lys) c.5104C>A (p.Gln1702Lys) c.5032C>A (p.Gln1678Lys) c.5020C>A (p.Gln1674Lys) | |
X | g.108157024del | CA2822887521 | COL4A6 | c.5050del (p.Gln1684ArgfsTer4) c.5053del (p.Gln1685ArgfsTer4) c.5101del (p.Gln1701ArgfsTer4) c.4879del (p.Gln1627ArgfsTer4) c.5014del (p.Gln1672ArgfsTer4) c.4978del (p.Gln1660ArgfsTer4) c.5104del (p.Gln1702ArgfsTer4) c.5032del (p.Gln1678ArgfsTer4) c.5020del (p.Gln1674ArgfsTer4) | |
X | g.108157024G>A | CA518100606 | COL4A6 | c.5049C>T (p.Cys1683=) c.5052C>T (p.Cys1684=) c.5100C>T (p.Cys1700=) c.4878C>T (p.Cys1626=) c.5013C>T (p.Cys1671=) c.4977C>T (p.Cys1659=) c.5103C>T (p.Cys1701=) c.5031C>T (p.Cys1677=) c.5019C>T (p.Cys1673=) | |
X | g.108157024G>C | CA413847904 | COL4A6 | c.5049C>G (p.Cys1683Trp) c.5052C>G (p.Cys1684Trp) c.5100C>G (p.Cys1700Trp) c.4878C>G (p.Cys1626Trp) c.5013C>G (p.Cys1671Trp) c.4977C>G (p.Cys1659Trp) c.5103C>G (p.Cys1701Trp) c.5031C>G (p.Cys1677Trp) c.5019C>G (p.Cys1673Trp) | |
X | g.108157024G>T | CA413847906 | COL4A6 | c.5049C>A (p.Cys1683Ter) c.5052C>A (p.Cys1684Ter) c.5100C>A (p.Cys1700Ter) c.4878C>A (p.Cys1626Ter) c.5013C>A (p.Cys1671Ter) c.4977C>A (p.Cys1659Ter) c.5103C>A (p.Cys1701Ter) c.5031C>A (p.Cys1677Ter) c.5019C>A (p.Cys1673Ter) | |
X | g.108157025C>A | CA413847908 | COL4A6 | c.5048G>T (p.Cys1683Phe) c.5051G>T (p.Cys1684Phe) c.5099G>T (p.Cys1700Phe) c.4877G>T (p.Cys1626Phe) c.5012G>T (p.Cys1671Phe) c.4976G>T (p.Cys1659Phe) c.5102G>T (p.Cys1701Phe) c.5030G>T (p.Cys1677Phe) c.5018G>T (p.Cys1673Phe) | |
X | g.108157025C>G | CA413847910 | COL4A6 | c.5048G>C (p.Cys1683Ser) c.5051G>C (p.Cys1684Ser) c.5099G>C (p.Cys1700Ser) c.4877G>C (p.Cys1626Ser) c.5012G>C (p.Cys1671Ser) c.4976G>C (p.Cys1659Ser) c.5102G>C (p.Cys1701Ser) c.5030G>C (p.Cys1677Ser) c.5018G>C (p.Cys1673Ser) | |
X | g.108157025C>T | CA413847912 | COL4A6 | c.5048G>A (p.Cys1683Tyr) c.5051G>A (p.Cys1684Tyr) c.5099G>A (p.Cys1700Tyr) c.4877G>A (p.Cys1626Tyr) c.5012G>A (p.Cys1671Tyr) c.4976G>A (p.Cys1659Tyr) c.5102G>A (p.Cys1701Tyr) c.5030G>A (p.Cys1677Tyr) c.5018G>A (p.Cys1673Tyr) | |
X | g.108157026_108157027insTACACACCTACA | CA2694428838 | COL4A6 | c.5048_5049insTAGGTGTGTATG (p.Cys1683_Gln1684insArgCysValCys) c.5051_5052insTAGGTGTGTATG (p.Cys1684_Gln1685insArgCysValCys) c.5099_5100insTAGGTGTGTATG (p.Cys1700_Gln1701insArgCysValCys) c.4877_4878insTAGGTGTGTATG (p.Cys1626_Gln1627insArgCysValCys) c.5012_5013insTAGGTGTGTATG (p.Cys1671_Gln1672insArgCysValCys) c.4976_4977insTAGGTGTGTATG (p.Cys1659_Gln1660insArgCysValCys) c.5102_5103insTAGGTGTGTATG (p.Cys1701_Gln1702insArgCysValCys) c.5030_5031insTAGGTGTGTATG (p.Cys1677_Gln1678insArgCysValCys) c.5018_5019insTAGGTGTGTATG (p.Cys1673_Gln1674insArgCysValCys) | gnomAD v4 |
X | g.108157029_108157056del | CA2694428839 | COL4A6 | c.5021_5048del (p.Gly1674AlafsTer5) c.5024_5051del (p.Gly1675AlafsTer5) c.5072_5099del (p.Gly1691AlafsTer5) c.4850_4877del (p.Gly1617AlafsTer5) c.4985_5012del (p.Gly1662AlafsTer5) c.4949_4976del (p.Gly1650AlafsTer5) c.5075_5102del (p.Gly1692AlafsTer5) c.5003_5030del (p.Gly1668AlafsTer5) c.4991_5018del (p.Gly1664AlafsTer5) | gnomAD v4 |
X | g.108157026A>C | CA413847914 | COL4A6 | c.5047T>G (p.Cys1683Gly) c.5050T>G (p.Cys1684Gly) c.5098T>G (p.Cys1700Gly) c.4876T>G (p.Cys1626Gly) c.5011T>G (p.Cys1671Gly) c.4975T>G (p.Cys1659Gly) c.5101T>G (p.Cys1701Gly) c.5029T>G (p.Cys1677Gly) c.5017T>G (p.Cys1673Gly) | |
X | g.108157026A>G | CA413847915 | COL4A6 | c.5047T>C (p.Cys1683Arg) c.5050T>C (p.Cys1684Arg) c.5098T>C (p.Cys1700Arg) c.4876T>C (p.Cys1626Arg) c.5011T>C (p.Cys1671Arg) c.4975T>C (p.Cys1659Arg) c.5101T>C (p.Cys1701Arg) c.5029T>C (p.Cys1677Arg) c.5017T>C (p.Cys1673Arg) | |
X | g.108157026A>T | CA413847917 | COL4A6 | c.5047T>A (p.Cys1683Ser) c.5050T>A (p.Cys1684Ser) c.5098T>A (p.Cys1700Ser) c.4876T>A (p.Cys1626Ser) c.5011T>A (p.Cys1671Ser) c.4975T>A (p.Cys1659Ser) c.5101T>A (p.Cys1701Ser) c.5029T>A (p.Cys1677Ser) c.5017T>A (p.Cys1673Ser) | |
X | g.108157027G>A | CA518100607 | COL4A6 | c.5046C>T (p.Arg1682=) c.5049C>T (p.Arg1683=) c.5097C>T (p.Arg1699=) c.4875C>T (p.Arg1625=) c.5010C>T (p.Arg1670=) c.4974C>T (p.Arg1658=) c.5100C>T (p.Arg1700=) c.5028C>T (p.Arg1676=) c.5016C>T (p.Arg1672=) | |
X | g.108157027G>C | CA518100608 | COL4A6 | c.5046C>G (p.Arg1682=) c.5049C>G (p.Arg1683=) c.5097C>G (p.Arg1699=) c.4875C>G (p.Arg1625=) c.5010C>G (p.Arg1670=) c.4974C>G (p.Arg1658=) c.5100C>G (p.Arg1700=) c.5028C>G (p.Arg1676=) c.5016C>G (p.Arg1672=) | |
X | g.108157027G>T | CA518100609 | COL4A6 | c.5046C>A (p.Arg1682=) c.5049C>A (p.Arg1683=) c.5097C>A (p.Arg1699=) c.4875C>A (p.Arg1625=) c.5010C>A (p.Arg1670=) c.4974C>A (p.Arg1658=) c.5100C>A (p.Arg1700=) c.5028C>A (p.Arg1676=) c.5016C>A (p.Arg1672=) | |
X | g.108157027_108157028insGCTTTTCATACACACTTTTCATACA | CA2694428840 | COL4A6 | c.5045_5046insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1683ValfsTer2) c.5048_5049insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1684ValfsTer2) c.5096_5097insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1700ValfsTer2) c.4874_4875insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1626ValfsTer2) c.5009_5010insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1671ValfsTer2) c.4973_4974insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1659ValfsTer2) c.5099_5100insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1701ValfsTer2) c.5027_5028insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1677ValfsTer2) c.5015_5016insTGTATGAAAAGTGTGTATGAAAAGC (p.Cys1673ValfsTer2) | gnomAD v4 |
X | g.108157028C>A | CA413847922 | COL4A6 | c.5045G>T (p.Arg1682Leu) c.5048G>T (p.Arg1683Leu) c.5096G>T (p.Arg1699Leu) c.4874G>T (p.Arg1625Leu) c.5009G>T (p.Arg1670Leu) c.4973G>T (p.Arg1658Leu) c.5099G>T (p.Arg1700Leu) c.5027G>T (p.Arg1676Leu) c.5015G>T (p.Arg1672Leu) | |
X | g.108157028C= | CA2450541933 | COL4A6 | c.5045G= (p.Arg1682=) c.5048G= (p.Arg1683=) c.5096G= (p.Arg1699=) c.4874G= (p.Arg1625=) c.5009G= (p.Arg1670=) c.4973G= (p.Arg1658=) c.5099G= (p.Arg1700=) c.5027G= (p.Arg1676=) c.5015G= (p.Arg1672=) | |
X | g.108157028C>G | CA413847919 | COL4A6 | c.5045G>C (p.Arg1682Pro) c.5048G>C (p.Arg1683Pro) c.5096G>C (p.Arg1699Pro) c.4874G>C (p.Arg1625Pro) c.5009G>C (p.Arg1670Pro) c.4973G>C (p.Arg1658Pro) c.5099G>C (p.Arg1700Pro) c.5027G>C (p.Arg1676Pro) c.5015G>C (p.Arg1672Pro) | |
X | g.108157028C>T | CA413847921 | COL4A6 | c.5045G>A (p.Arg1682His) c.5048G>A (p.Arg1683His) c.5096G>A (p.Arg1699His) c.4874G>A (p.Arg1625His) c.5009G>A (p.Arg1670His) c.4973G>A (p.Arg1658His) c.5099G>A (p.Arg1700His) c.5027G>A (p.Arg1676His) c.5015G>A (p.Arg1672His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.108157029G>A | CA10487072 | COL4A6 | c.5044C>T (p.Arg1682Cys) c.5047C>T (p.Arg1683Cys) c.5095C>T (p.Arg1699Cys) c.4873C>T (p.Arg1625Cys) c.5008C>T (p.Arg1670Cys) c.4972C>T (p.Arg1658Cys) c.5098C>T (p.Arg1700Cys) c.5026C>T (p.Arg1676Cys) c.5014C>T (p.Arg1672Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108157029G>C | CA413847924 | COL4A6 | c.5044C>G (p.Arg1682Gly) c.5047C>G (p.Arg1683Gly) c.5095C>G (p.Arg1699Gly) c.4873C>G (p.Arg1625Gly) c.5008C>G (p.Arg1670Gly) c.4972C>G (p.Arg1658Gly) c.5098C>G (p.Arg1700Gly) c.5026C>G (p.Arg1676Gly) c.5014C>G (p.Arg1672Gly) | |
X | g.108157029G= | CA2450541934 | COL4A6 | c.5044C= (p.Arg1682=) c.5047C= (p.Arg1683=) c.5095C= (p.Arg1699=) c.4873C= (p.Arg1625=) c.5008C= (p.Arg1670=) c.4972C= (p.Arg1658=) c.5098C= (p.Arg1700=) c.5026C= (p.Arg1676=) c.5014C= (p.Arg1672=) | |
X | g.108157029G>T | CA413847926 | COL4A6 | c.5044C>A (p.Arg1682Ser) c.5047C>A (p.Arg1683Ser) c.5095C>A (p.Arg1699Ser) c.4873C>A (p.Arg1625Ser) c.5008C>A (p.Arg1670Ser) c.4972C>A (p.Arg1658Ser) c.5098C>A (p.Arg1700Ser) c.5026C>A (p.Arg1676Ser) c.5014C>A (p.Arg1672Ser) | gnomAD v4 |
X | g.108157030A>C | CA413847927 | COL4A6 | c.5043T>G (p.Ser1681Arg) c.5046T>G (p.Ser1682Arg) c.5094T>G (p.Ser1698Arg) c.4872T>G (p.Ser1624Arg) c.5007T>G (p.Ser1669Arg) c.4971T>G (p.Ser1657Arg) c.5097T>G (p.Ser1699Arg) c.5025T>G (p.Ser1675Arg) c.5013T>G (p.Ser1671Arg) | |
X | g.108157030A>G | CA518100616 | COL4A6 | c.5043T>C (p.Ser1681=) c.5046T>C (p.Ser1682=) c.5094T>C (p.Ser1698=) c.4872T>C (p.Ser1624=) c.5007T>C (p.Ser1669=) c.4971T>C (p.Ser1657=) c.5097T>C (p.Ser1699=) c.5025T>C (p.Ser1675=) c.5013T>C (p.Ser1671=) | gnomAD v4 |
X | g.108157030A>T | CA413847928 | COL4A6 | c.5043T>A (p.Ser1681Arg) c.5046T>A (p.Ser1682Arg) c.5094T>A (p.Ser1698Arg) c.4872T>A (p.Ser1624Arg) c.5007T>A (p.Ser1669Arg) c.4971T>A (p.Ser1657Arg) c.5097T>A (p.Ser1699Arg) c.5025T>A (p.Ser1675Arg) c.5013T>A (p.Ser1671Arg) | |
X | g.108157031C>A | CA413847931 | COL4A6 | c.5042G>T (p.Ser1681Ile) c.5045G>T (p.Ser1682Ile) c.5093G>T (p.Ser1698Ile) c.4871G>T (p.Ser1624Ile) c.5006G>T (p.Ser1669Ile) c.4970G>T (p.Ser1657Ile) c.5096G>T (p.Ser1699Ile) c.5024G>T (p.Ser1675Ile) c.5012G>T (p.Ser1671Ile) | |
X | g.108157031C= | CA2450541935 | COL4A6 | c.5042G= (p.Ser1681=) c.5045G= (p.Ser1682=) c.5093G= (p.Ser1698=) c.4871G= (p.Ser1624=) c.5006G= (p.Ser1669=) c.4970G= (p.Ser1657=) c.5096G= (p.Ser1699=) c.5024G= (p.Ser1675=) c.5012G= (p.Ser1671=) | |
X | g.108157031C>G | CA413847933 | COL4A6 | c.5042G>C (p.Ser1681Thr) c.5045G>C (p.Ser1682Thr) c.5093G>C (p.Ser1698Thr) c.4871G>C (p.Ser1624Thr) c.5006G>C (p.Ser1669Thr) c.4970G>C (p.Ser1657Thr) c.5096G>C (p.Ser1699Thr) c.5024G>C (p.Ser1675Thr) c.5012G>C (p.Ser1671Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108157031C>T | CA413847935 | COL4A6 | c.5042G>A (p.Ser1681Asn) c.5045G>A (p.Ser1682Asn) c.5093G>A (p.Ser1698Asn) c.4871G>A (p.Ser1624Asn) c.5006G>A (p.Ser1669Asn) c.4970G>A (p.Ser1657Asn) c.5096G>A (p.Ser1699Asn) c.5024G>A (p.Ser1675Asn) c.5012G>A (p.Ser1671Asn) | ClinVar |
X | g.108157032T>A | CA413847937 | COL4A6 | c.5041A>T (p.Ser1681Cys) c.5044A>T (p.Ser1682Cys) c.5092A>T (p.Ser1698Cys) c.4870A>T (p.Ser1624Cys) c.5005A>T (p.Ser1669Cys) c.4969A>T (p.Ser1657Cys) c.5095A>T (p.Ser1699Cys) c.5023A>T (p.Ser1675Cys) c.5011A>T (p.Ser1671Cys) | |
X | g.108157032T>C | CA413847938 | COL4A6 | c.5041A>G (p.Ser1681Gly) c.5044A>G (p.Ser1682Gly) c.5092A>G (p.Ser1698Gly) c.4870A>G (p.Ser1624Gly) c.5005A>G (p.Ser1669Gly) c.4969A>G (p.Ser1657Gly) c.5095A>G (p.Ser1699Gly) c.5023A>G (p.Ser1675Gly) c.5011A>G (p.Ser1671Gly) | |
X | g.108157032T>G | CA413847940 | COL4A6 | c.5041A>C (p.Ser1681Arg) c.5044A>C (p.Ser1682Arg) c.5092A>C (p.Ser1698Arg) c.4870A>C (p.Ser1624Arg) c.5005A>C (p.Ser1669Arg) c.4969A>C (p.Ser1657Arg) c.5095A>C (p.Ser1699Arg) c.5023A>C (p.Ser1675Arg) c.5011A>C (p.Ser1671Arg) | gnomAD v4 |
X | g.108157033G>A | CA518100624 | COL4A6 | c.5040C>T (p.Val1680=) c.5043C>T (p.Val1681=) c.5091C>T (p.Val1697=) c.4869C>T (p.Val1623=) c.5004C>T (p.Val1668=) c.4968C>T (p.Val1656=) c.5094C>T (p.Val1698=) c.5022C>T (p.Val1674=) c.5010C>T (p.Val1670=) | gnomAD v4 |
X | g.108157033G>C | CA518100625 | COL4A6 | c.5040C>G (p.Val1680=) c.5043C>G (p.Val1681=) c.5091C>G (p.Val1697=) c.4869C>G (p.Val1623=) c.5004C>G (p.Val1668=) c.4968C>G (p.Val1656=) c.5094C>G (p.Val1698=) c.5022C>G (p.Val1674=) c.5010C>G (p.Val1670=) | |
X | g.108157033G>T | CA518100626 | COL4A6 | c.5040C>A (p.Val1680=) c.5043C>A (p.Val1681=) c.5091C>A (p.Val1697=) c.4869C>A (p.Val1623=) c.5004C>A (p.Val1668=) c.4968C>A (p.Val1656=) c.5094C>A (p.Val1698=) c.5022C>A (p.Val1674=) c.5010C>A (p.Val1670=) | |
X | g.108157034A>C | CA413847943 | COL4A6 | c.5039T>G (p.Val1680Gly) c.5042T>G (p.Val1681Gly) c.5090T>G (p.Val1697Gly) c.4868T>G (p.Val1623Gly) c.5003T>G (p.Val1668Gly) c.4967T>G (p.Val1656Gly) c.5093T>G (p.Val1698Gly) c.5021T>G (p.Val1674Gly) c.5009T>G (p.Val1670Gly) | |
X | g.108157034A>G | CA413847945 | COL4A6 | c.5039T>C (p.Val1680Ala) c.5042T>C (p.Val1681Ala) c.5090T>C (p.Val1697Ala) c.4868T>C (p.Val1623Ala) c.5003T>C (p.Val1668Ala) c.4967T>C (p.Val1656Ala) c.5093T>C (p.Val1698Ala) c.5021T>C (p.Val1674Ala) c.5009T>C (p.Val1670Ala) | |
X | g.108157034A>T | CA413847942 | COL4A6 | c.5039T>A (p.Val1680Asp) c.5042T>A (p.Val1681Asp) c.5090T>A (p.Val1697Asp) c.4868T>A (p.Val1623Asp) c.5003T>A (p.Val1668Asp) c.4967T>A (p.Val1656Asp) c.5093T>A (p.Val1698Asp) c.5021T>A (p.Val1674Asp) c.5009T>A (p.Val1670Asp) | |
X | g.108157035C>A | CA413847947 | COL4A6 | c.5038G>T (p.Val1680Phe) c.5041G>T (p.Val1681Phe) c.5089G>T (p.Val1697Phe) c.4867G>T (p.Val1623Phe) c.5002G>T (p.Val1668Phe) c.4966G>T (p.Val1656Phe) c.5092G>T (p.Val1698Phe) c.5020G>T (p.Val1674Phe) c.5008G>T (p.Val1670Phe) | |
X | g.108157035C>G | CA413847949 | COL4A6 | c.5038G>C (p.Val1680Leu) c.5041G>C (p.Val1681Leu) c.5089G>C (p.Val1697Leu) c.4867G>C (p.Val1623Leu) c.5002G>C (p.Val1668Leu) c.4966G>C (p.Val1656Leu) c.5092G>C (p.Val1698Leu) c.5020G>C (p.Val1674Leu) c.5008G>C (p.Val1670Leu) | |
X | g.108157035C>T | CA413847951 | COL4A6 | c.5038G>A (p.Val1680Ile) c.5041G>A (p.Val1681Ile) c.5089G>A (p.Val1697Ile) c.4867G>A (p.Val1623Ile) c.5002G>A (p.Val1668Ile) c.4966G>A (p.Val1656Ile) c.5092G>A (p.Val1698Ile) c.5020G>A (p.Val1674Ile) c.5008G>A (p.Val1670Ile) | gnomAD v4 |
X | g.108157036T>A | CA518100633 | COL4A6 | c.5037A>T (p.Arg1679=) c.5040A>T (p.Arg1680=) c.5088A>T (p.Arg1696=) c.4866A>T (p.Arg1622=) c.5001A>T (p.Arg1667=) c.4965A>T (p.Arg1655=) c.5091A>T (p.Arg1697=) c.5019A>T (p.Arg1673=) c.5007A>T (p.Arg1669=) | |
X | g.108157036T>C | CA518100634 | COL4A6 | c.5037A>G (p.Arg1679=) c.5040A>G (p.Arg1680=) c.5088A>G (p.Arg1696=) c.4866A>G (p.Arg1622=) c.5001A>G (p.Arg1667=) c.4965A>G (p.Arg1655=) c.5091A>G (p.Arg1697=) c.5019A>G (p.Arg1673=) c.5007A>G (p.Arg1669=) | |
X | g.108157036T>G | CA518100635 | COL4A6 | c.5037A>C (p.Arg1679=) c.5040A>C (p.Arg1680=) c.5088A>C (p.Arg1696=) c.4866A>C (p.Arg1622=) c.5001A>C (p.Arg1667=) c.4965A>C (p.Arg1655=) c.5091A>C (p.Arg1697=) c.5019A>C (p.Arg1673=) c.5007A>C (p.Arg1669=) | gnomAD v4 |
X | g.108157037C>A | CA413847953 | COL4A6 | c.5036G>T (p.Arg1679Leu) c.5039G>T (p.Arg1680Leu) c.5087G>T (p.Arg1696Leu) c.4865G>T (p.Arg1622Leu) c.5000G>T (p.Arg1667Leu) c.4964G>T (p.Arg1655Leu) c.5090G>T (p.Arg1697Leu) c.5018G>T (p.Arg1673Leu) c.5006G>T (p.Arg1669Leu) | |
X | g.108157037C= | CA2450541936 | COL4A6 | c.5036G= (p.Arg1679=) c.5039G= (p.Arg1680=) c.5087G= (p.Arg1696=) c.4865G= (p.Arg1622=) c.5000G= (p.Arg1667=) c.4964G= (p.Arg1655=) c.5090G= (p.Arg1697=) c.5018G= (p.Arg1673=) c.5006G= (p.Arg1669=) | |
X | g.108157037C>G | CA413847954 | COL4A6 | c.5036G>C (p.Arg1679Pro) c.5039G>C (p.Arg1680Pro) c.5087G>C (p.Arg1696Pro) c.4865G>C (p.Arg1622Pro) c.5000G>C (p.Arg1667Pro) c.4964G>C (p.Arg1655Pro) c.5090G>C (p.Arg1697Pro) c.5018G>C (p.Arg1673Pro) c.5006G>C (p.Arg1669Pro) | dbSNP |
X | g.108157037C>T | CA10487073 | COL4A6 | c.5036G>A (p.Arg1679Gln) c.5039G>A (p.Arg1680Gln) c.5087G>A (p.Arg1696Gln) c.4865G>A (p.Arg1622Gln) c.5000G>A (p.Arg1667Gln) c.4964G>A (p.Arg1655Gln) c.5090G>A (p.Arg1697Gln) c.5018G>A (p.Arg1673Gln) c.5006G>A (p.Arg1669Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108157038G>A | CA413847955 | COL4A6 | c.5035C>T (p.Arg1679Ter) c.5038C>T (p.Arg1680Ter) c.5086C>T (p.Arg1696Ter) c.4864C>T (p.Arg1622Ter) c.4999C>T (p.Arg1667Ter) c.4963C>T (p.Arg1655Ter) c.5089C>T (p.Arg1697Ter) c.5017C>T (p.Arg1673Ter) c.5005C>T (p.Arg1669Ter) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
X | g.108157038G>C | CA413847956 | COL4A6 | c.5035C>G (p.Arg1679Gly) c.5038C>G (p.Arg1680Gly) c.5086C>G (p.Arg1696Gly) c.4864C>G (p.Arg1622Gly) c.4999C>G (p.Arg1667Gly) c.4963C>G (p.Arg1655Gly) c.5089C>G (p.Arg1697Gly) c.5017C>G (p.Arg1673Gly) c.5005C>G (p.Arg1669Gly) | |
X | g.108157038G= | CA2450541937 | COL4A6 | c.5035C= (p.Arg1679=) c.5038C= (p.Arg1680=) c.5086C= (p.Arg1696=) c.4864C= (p.Arg1622=) c.4999C= (p.Arg1667=) c.4963C= (p.Arg1655=) c.5089C= (p.Arg1697=) c.5017C= (p.Arg1673=) c.5005C= (p.Arg1669=) | |
X | g.108157038G>T | CA518100640 | COL4A6 | c.5035C>A (p.Arg1679=) c.5038C>A (p.Arg1680=) c.5086C>A (p.Arg1696=) c.4864C>A (p.Arg1622=) c.4999C>A (p.Arg1667=) c.4963C>A (p.Arg1655=) c.5089C>A (p.Arg1697=) c.5017C>A (p.Arg1673=) c.5005C>A (p.Arg1669=) | |
X | g.108157039A>C | CA518100645 | COL4A6 | c.5034T>G (p.Thr1678=) c.5037T>G (p.Thr1679=) c.5085T>G (p.Thr1695=) c.4863T>G (p.Thr1621=) c.4998T>G (p.Thr1666=) c.4962T>G (p.Thr1654=) c.5088T>G (p.Thr1696=) c.5016T>G (p.Thr1672=) c.5004T>G (p.Thr1668=) | |
X | g.108157039A>G | CA518100644 | COL4A6 | c.5034T>C (p.Thr1678=) c.5037T>C (p.Thr1679=) c.5085T>C (p.Thr1695=) c.4863T>C (p.Thr1621=) c.4998T>C (p.Thr1666=) c.4962T>C (p.Thr1654=) c.5088T>C (p.Thr1696=) c.5016T>C (p.Thr1672=) c.5004T>C (p.Thr1668=) | |
X | g.108157039A>T | CA518100643 | COL4A6 | c.5034T>A (p.Thr1678=) c.5037T>A (p.Thr1679=) c.5085T>A (p.Thr1695=) c.4863T>A (p.Thr1621=) c.4998T>A (p.Thr1666=) c.4962T>A (p.Thr1654=) c.5088T>A (p.Thr1696=) c.5016T>A (p.Thr1672=) c.5004T>A (p.Thr1668=) | |
X | g.108157040G>A | CA413847957 | COL4A6 | c.5033C>T (p.Thr1678Ile) c.5036C>T (p.Thr1679Ile) c.5084C>T (p.Thr1695Ile) c.4862C>T (p.Thr1621Ile) c.4997C>T (p.Thr1666Ile) c.4961C>T (p.Thr1654Ile) c.5087C>T (p.Thr1696Ile) c.5015C>T (p.Thr1672Ile) c.5003C>T (p.Thr1668Ile) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108157040G>C | CA10487074 | COL4A6 | c.5033C>G (p.Thr1678Ser) c.5036C>G (p.Thr1679Ser) c.5084C>G (p.Thr1695Ser) c.4862C>G (p.Thr1621Ser) c.4997C>G (p.Thr1666Ser) c.4961C>G (p.Thr1654Ser) c.5087C>G (p.Thr1696Ser) c.5015C>G (p.Thr1672Ser) c.5003C>G (p.Thr1668Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108157040G= | CA2450541938 | COL4A6 | c.5033C= (p.Thr1678=) c.5036C= (p.Thr1679=) c.5084C= (p.Thr1695=) c.4862C= (p.Thr1621=) c.4997C= (p.Thr1666=) c.4961C= (p.Thr1654=) c.5087C= (p.Thr1696=) c.5015C= (p.Thr1672=) c.5003C= (p.Thr1668=) | |
X | g.108157040G>T | CA413847958 | COL4A6 | c.5033C>A (p.Thr1678Asn) c.5036C>A (p.Thr1679Asn) c.5084C>A (p.Thr1695Asn) c.4862C>A (p.Thr1621Asn) c.4997C>A (p.Thr1666Asn) c.4961C>A (p.Thr1654Asn) c.5087C>A (p.Thr1696Asn) c.5015C>A (p.Thr1672Asn) c.5003C>A (p.Thr1668Asn) | |
X | g.108157041T>A | CA413847959 | COL4A6 | c.5032A>T (p.Thr1678Ser) c.5035A>T (p.Thr1679Ser) c.5083A>T (p.Thr1695Ser) c.4861A>T (p.Thr1621Ser) c.4996A>T (p.Thr1666Ser) c.4960A>T (p.Thr1654Ser) c.5086A>T (p.Thr1696Ser) c.5014A>T (p.Thr1672Ser) c.5002A>T (p.Thr1668Ser) | dbSNP |
X | g.108157041T>C | CA413847960 | COL4A6 | c.5032A>G (p.Thr1678Ala) c.5035A>G (p.Thr1679Ala) c.5083A>G (p.Thr1695Ala) c.4861A>G (p.Thr1621Ala) c.4996A>G (p.Thr1666Ala) c.4960A>G (p.Thr1654Ala) c.5086A>G (p.Thr1696Ala) c.5014A>G (p.Thr1672Ala) c.5002A>G (p.Thr1668Ala) | |
X | g.108157041T>G | CA413847961 | COL4A6 | c.5032A>C (p.Thr1678Pro) c.5035A>C (p.Thr1679Pro) c.5083A>C (p.Thr1695Pro) c.4861A>C (p.Thr1621Pro) c.4996A>C (p.Thr1666Pro) c.4960A>C (p.Thr1654Pro) c.5086A>C (p.Thr1696Pro) c.5014A>C (p.Thr1672Pro) c.5002A>C (p.Thr1668Pro) | gnomAD v4 |
X | g.108157041T= | CA2450541939 | COL4A6 | c.5032A= (p.Thr1678=) c.5035A= (p.Thr1679=) c.5083A= (p.Thr1695=) c.4861A= (p.Thr1621=) c.4996A= (p.Thr1666=) c.4960A= (p.Thr1654=) c.5086A= (p.Thr1696=) c.5014A= (p.Thr1672=) c.5002A= (p.Thr1668=) | |
X | g.108157042G>A | CA518100650 | COL4A6 | c.5031C>T (p.His1677=) c.5034C>T (p.His1678=) c.5082C>T (p.His1694=) c.4860C>T (p.His1620=) c.4995C>T (p.His1665=) c.4959C>T (p.His1653=) c.5085C>T (p.His1695=) c.5013C>T (p.His1671=) c.5001C>T (p.His1667=) | |
X | g.108157042G>C | CA413847963 | COL4A6 | c.5031C>G (p.His1677Gln) c.5034C>G (p.His1678Gln) c.5082C>G (p.His1694Gln) c.4860C>G (p.His1620Gln) c.4995C>G (p.His1665Gln) c.4959C>G (p.His1653Gln) c.5085C>G (p.His1695Gln) c.5013C>G (p.His1671Gln) c.5001C>G (p.His1667Gln) | |
X | g.108157042G>T | CA413847962 | COL4A6 | c.5031C>A (p.His1677Gln) c.5034C>A (p.His1678Gln) c.5082C>A (p.His1694Gln) c.4860C>A (p.His1620Gln) c.4995C>A (p.His1665Gln) c.4959C>A (p.His1653Gln) c.5085C>A (p.His1695Gln) c.5013C>A (p.His1671Gln) c.5001C>A (p.His1667Gln) | |
X | g.108157043T>A | CA413847964 | COL4A6 | c.5030A>T (p.His1677Leu) c.5033A>T (p.His1678Leu) c.5081A>T (p.His1694Leu) c.4859A>T (p.His1620Leu) c.4994A>T (p.His1665Leu) c.4958A>T (p.His1653Leu) c.5084A>T (p.His1695Leu) c.5012A>T (p.His1671Leu) c.5000A>T (p.His1667Leu) | |
X | g.108157043T>C | CA413847965 | COL4A6 | c.5030A>G (p.His1677Arg) c.5033A>G (p.His1678Arg) c.5081A>G (p.His1694Arg) c.4859A>G (p.His1620Arg) c.4994A>G (p.His1665Arg) c.4958A>G (p.His1653Arg) c.5084A>G (p.His1695Arg) c.5012A>G (p.His1671Arg) c.5000A>G (p.His1667Arg) | |
X | g.108157043T>G | CA413847966 | COL4A6 | c.5030A>C (p.His1677Pro) c.5033A>C (p.His1678Pro) c.5081A>C (p.His1694Pro) c.4859A>C (p.His1620Pro) c.4994A>C (p.His1665Pro) c.4958A>C (p.His1653Pro) c.5084A>C (p.His1695Pro) c.5012A>C (p.His1671Pro) c.5000A>C (p.His1667Pro) | |
X | g.108157044G>A | CA413847967 | COL4A6 | c.5029C>T (p.His1677Tyr) c.5032C>T (p.His1678Tyr) c.5080C>T (p.His1694Tyr) c.4858C>T (p.His1620Tyr) c.4993C>T (p.His1665Tyr) c.4957C>T (p.His1653Tyr) c.5083C>T (p.His1695Tyr) c.5011C>T (p.His1671Tyr) c.4999C>T (p.His1667Tyr) | |
X | g.108157044G>C | CA413847968 | COL4A6 | c.5029C>G (p.His1677Asp) c.5032C>G (p.His1678Asp) c.5080C>G (p.His1694Asp) c.4858C>G (p.His1620Asp) c.4993C>G (p.His1665Asp) c.4957C>G (p.His1653Asp) c.5083C>G (p.His1695Asp) c.5011C>G (p.His1671Asp) c.4999C>G (p.His1667Asp) | |
X | g.108157044G>T | CA413847969 | COL4A6 | c.5029C>A (p.His1677Asn) c.5032C>A (p.His1678Asn) c.5080C>A (p.His1694Asn) c.4858C>A (p.His1620Asn) c.4993C>A (p.His1665Asn) c.4957C>A (p.His1653Asn) c.5083C>A (p.His1695Asn) c.5011C>A (p.His1671Asn) c.4999C>A (p.His1667Asn) | |
X | g.108157045G>A | CA518100659 | COL4A6 | c.5028C>T (p.Leu1676=) c.5031C>T (p.Leu1677=) c.5079C>T (p.Leu1693=) c.4857C>T (p.Leu1619=) c.4992C>T (p.Leu1664=) c.4956C>T (p.Leu1652=) c.5082C>T (p.Leu1694=) c.5010C>T (p.Leu1670=) c.4998C>T (p.Leu1666=) | |
X | g.108157045G>C | CA518100657 | COL4A6 | c.5028C>G (p.Leu1676=) c.5031C>G (p.Leu1677=) c.5079C>G (p.Leu1693=) c.4857C>G (p.Leu1619=) c.4992C>G (p.Leu1664=) c.4956C>G (p.Leu1652=) c.5082C>G (p.Leu1694=) c.5010C>G (p.Leu1670=) c.4998C>G (p.Leu1666=) | |
X | g.108157045G>T | CA518100658 | COL4A6 | c.5028C>A (p.Leu1676=) c.5031C>A (p.Leu1677=) c.5079C>A (p.Leu1693=) c.4857C>A (p.Leu1619=) c.4992C>A (p.Leu1664=) c.4956C>A (p.Leu1652=) c.5082C>A (p.Leu1694=) c.5010C>A (p.Leu1670=) c.4998C>A (p.Leu1666=) | |
X | g.108157046A>C | CA413847972 | COL4A6 | c.5027T>G (p.Leu1676Arg) c.5030T>G (p.Leu1677Arg) c.5078T>G (p.Leu1693Arg) c.4856T>G (p.Leu1619Arg) c.4991T>G (p.Leu1664Arg) c.4955T>G (p.Leu1652Arg) c.5081T>G (p.Leu1694Arg) c.5009T>G (p.Leu1670Arg) c.4997T>G (p.Leu1666Arg) | |
X | g.108157046A>G | CA413847970 | COL4A6 | c.5027T>C (p.Leu1676Pro) c.5030T>C (p.Leu1677Pro) c.5078T>C (p.Leu1693Pro) c.4856T>C (p.Leu1619Pro) c.4991T>C (p.Leu1664Pro) c.4955T>C (p.Leu1652Pro) c.5081T>C (p.Leu1694Pro) c.5009T>C (p.Leu1670Pro) c.4997T>C (p.Leu1666Pro) | |
X | g.108157046A>T | CA413847971 | COL4A6 | c.5027T>A (p.Leu1676His) c.5030T>A (p.Leu1677His) c.5078T>A (p.Leu1693His) c.4856T>A (p.Leu1619His) c.4991T>A (p.Leu1664His) c.4955T>A (p.Leu1652His) c.5081T>A (p.Leu1694His) c.5009T>A (p.Leu1670His) c.4997T>A (p.Leu1666His) | |
X | g.108157047G>A | CA413847973 | COL4A6 | c.5026C>T (p.Leu1676Phe) c.5029C>T (p.Leu1677Phe) c.5077C>T (p.Leu1693Phe) c.4855C>T (p.Leu1619Phe) c.4990C>T (p.Leu1664Phe) c.4954C>T (p.Leu1652Phe) c.5080C>T (p.Leu1694Phe) c.5008C>T (p.Leu1670Phe) c.4996C>T (p.Leu1666Phe) | |
X | g.108157047G>C | CA413847974 | COL4A6 | c.5026C>G (p.Leu1676Val) c.5029C>G (p.Leu1677Val) c.5077C>G (p.Leu1693Val) c.4855C>G (p.Leu1619Val) c.4990C>G (p.Leu1664Val) c.4954C>G (p.Leu1652Val) c.5080C>G (p.Leu1694Val) c.5008C>G (p.Leu1670Val) c.4996C>G (p.Leu1666Val) | |
X | g.108157047G>T | CA413847975 | COL4A6 | c.5026C>A (p.Leu1676Ile) c.5029C>A (p.Leu1677Ile) c.5077C>A (p.Leu1693Ile) c.4855C>A (p.Leu1619Ile) c.4990C>A (p.Leu1664Ile) c.4954C>A (p.Leu1652Ile) c.5080C>A (p.Leu1694Ile) c.5008C>A (p.Leu1670Ile) c.4996C>A (p.Leu1666Ile) | |
X | g.108157048C>A | CA413847976 | COL4A6 | c.5025G>T (p.Gln1675His) c.5028G>T (p.Gln1676His) c.5076G>T (p.Gln1692His) c.4854G>T (p.Gln1618His) c.4989G>T (p.Gln1663His) c.4953G>T (p.Gln1651His) c.5079G>T (p.Gln1693His) c.5007G>T (p.Gln1669His) c.4995G>T (p.Gln1665His) | |
X | g.108157048C>G | CA413847977 | COL4A6 | c.5025G>C (p.Gln1675His) c.5028G>C (p.Gln1676His) c.5076G>C (p.Gln1692His) c.4854G>C (p.Gln1618His) c.4989G>C (p.Gln1663His) c.4953G>C (p.Gln1651His) c.5079G>C (p.Gln1693His) c.5007G>C (p.Gln1669His) c.4995G>C (p.Gln1665His) | |
X | g.108157048C>T | CA518100663 | COL4A6 | c.5025G>A (p.Gln1675=) c.5028G>A (p.Gln1676=) c.5076G>A (p.Gln1692=) c.4854G>A (p.Gln1618=) c.4989G>A (p.Gln1663=) c.4953G>A (p.Gln1651=) c.5079G>A (p.Gln1693=) c.5007G>A (p.Gln1669=) c.4995G>A (p.Gln1665=) | |
X | g.108157049T>A | CA413847978 | COL4A6 | c.5024A>T (p.Gln1675Leu) c.5027A>T (p.Gln1676Leu) c.5075A>T (p.Gln1692Leu) c.4853A>T (p.Gln1618Leu) c.4988A>T (p.Gln1663Leu) c.4952A>T (p.Gln1651Leu) c.5078A>T (p.Gln1693Leu) c.5006A>T (p.Gln1669Leu) c.4994A>T (p.Gln1665Leu) | |
X | g.108157049T>C | CA413847980 | COL4A6 | c.5024A>G (p.Gln1675Arg) c.5027A>G (p.Gln1676Arg) c.5075A>G (p.Gln1692Arg) c.4853A>G (p.Gln1618Arg) c.4988A>G (p.Gln1663Arg) c.4952A>G (p.Gln1651Arg) c.5078A>G (p.Gln1693Arg) c.5006A>G (p.Gln1669Arg) c.4994A>G (p.Gln1665Arg) | |
X | g.108157049T>G | CA413847979 | COL4A6 | c.5024A>C (p.Gln1675Pro) c.5027A>C (p.Gln1676Pro) c.5075A>C (p.Gln1692Pro) c.4853A>C (p.Gln1618Pro) c.4988A>C (p.Gln1663Pro) c.4952A>C (p.Gln1651Pro) c.5078A>C (p.Gln1693Pro) c.5006A>C (p.Gln1669Pro) c.4994A>C (p.Gln1665Pro) | |
X | g.108157050G>A | CA413847981 | COL4A6 | c.5023C>T (p.Gln1675Ter) c.5026C>T (p.Gln1676Ter) c.5074C>T (p.Gln1692Ter) c.4852C>T (p.Gln1618Ter) c.4987C>T (p.Gln1663Ter) c.4951C>T (p.Gln1651Ter) c.5077C>T (p.Gln1693Ter) c.5005C>T (p.Gln1669Ter) c.4993C>T (p.Gln1665Ter) | |
X | g.108157050G>C | CA413847982 | COL4A6 | c.5023C>G (p.Gln1675Glu) c.5026C>G (p.Gln1676Glu) c.5074C>G (p.Gln1692Glu) c.4852C>G (p.Gln1618Glu) c.4987C>G (p.Gln1663Glu) c.4951C>G (p.Gln1651Glu) c.5077C>G (p.Gln1693Glu) c.5005C>G (p.Gln1669Glu) c.4993C>G (p.Gln1665Glu) | |
X | g.108157050G>T | CA413847983 | COL4A6 | c.5023C>A (p.Gln1675Lys) c.5026C>A (p.Gln1676Lys) c.5074C>A (p.Gln1692Lys) c.4852C>A (p.Gln1618Lys) c.4987C>A (p.Gln1663Lys) c.4951C>A (p.Gln1651Lys) c.5077C>A (p.Gln1693Lys) c.5005C>A (p.Gln1669Lys) c.4993C>A (p.Gln1665Lys) | |
X | g.108157051C>A | CA518100669 | COL4A6 | c.5022G>T (p.Gly1674=) c.5025G>T (p.Gly1675=) c.5073G>T (p.Gly1691=) c.4851G>T (p.Gly1617=) c.4986G>T (p.Gly1662=) c.4950G>T (p.Gly1650=) c.5076G>T (p.Gly1692=) c.5004G>T (p.Gly1668=) c.4992G>T (p.Gly1664=) | |
X | g.108157051C>G | CA518100667 | COL4A6 | c.5022G>C (p.Gly1674=) c.5025G>C (p.Gly1675=) c.5073G>C (p.Gly1691=) c.4851G>C (p.Gly1617=) c.4986G>C (p.Gly1662=) c.4950G>C (p.Gly1650=) c.5076G>C (p.Gly1692=) c.5004G>C (p.Gly1668=) c.4992G>C (p.Gly1664=) | |
X | g.108157051C>T | CA518100668 | COL4A6 | c.5022G>A (p.Gly1674=) c.5025G>A (p.Gly1675=) c.5073G>A (p.Gly1691=) c.4851G>A (p.Gly1617=) c.4986G>A (p.Gly1662=) c.4950G>A (p.Gly1650=) c.5076G>A (p.Gly1692=) c.5004G>A (p.Gly1668=) c.4992G>A (p.Gly1664=) | |
X | g.108157052C>A | CA413847984 | COL4A6 | c.5021G>T (p.Gly1674Val) c.5024G>T (p.Gly1675Val) c.5072G>T (p.Gly1691Val) c.4850G>T (p.Gly1617Val) c.4985G>T (p.Gly1662Val) c.4949G>T (p.Gly1650Val) c.5075G>T (p.Gly1692Val) c.5003G>T (p.Gly1668Val) c.4991G>T (p.Gly1664Val) | |
X | g.108157052C>G | CA413847985 | COL4A6 | c.5021G>C (p.Gly1674Ala) c.5024G>C (p.Gly1675Ala) c.5072G>C (p.Gly1691Ala) c.4850G>C (p.Gly1617Ala) c.4985G>C (p.Gly1662Ala) c.4949G>C (p.Gly1650Ala) c.5075G>C (p.Gly1692Ala) c.5003G>C (p.Gly1668Ala) c.4991G>C (p.Gly1664Ala) | |
X | g.108157052C>T | CA413847986 | COL4A6 | c.5021G>A (p.Gly1674Glu) c.5024G>A (p.Gly1675Glu) c.5072G>A (p.Gly1691Glu) c.4850G>A (p.Gly1617Glu) c.4985G>A (p.Gly1662Glu) c.4949G>A (p.Gly1650Glu) c.5075G>A (p.Gly1692Glu) c.5003G>A (p.Gly1668Glu) c.4991G>A (p.Gly1664Glu) | gnomAD v4 |
X | g.108157053C>A | CA413847987 | COL4A6 | c.5020G>T (p.Gly1674Trp) c.5023G>T (p.Gly1675Trp) c.5071G>T (p.Gly1691Trp) c.4849G>T (p.Gly1617Trp) c.4984G>T (p.Gly1662Trp) c.4948G>T (p.Gly1650Trp) c.5074G>T (p.Gly1692Trp) c.5002G>T (p.Gly1668Trp) c.4990G>T (p.Gly1664Trp) | COSMIC COSMIC COSMIC |
X | g.108157053C>G | CA413847988 | COL4A6 | c.5020G>C (p.Gly1674Arg) c.5023G>C (p.Gly1675Arg) c.5071G>C (p.Gly1691Arg) c.4849G>C (p.Gly1617Arg) c.4984G>C (p.Gly1662Arg) c.4948G>C (p.Gly1650Arg) c.5074G>C (p.Gly1692Arg) c.5002G>C (p.Gly1668Arg) c.4990G>C (p.Gly1664Arg) | |
X | g.108157053C>T | CA413847989 | COL4A6 | c.5020G>A (p.Gly1674Arg) c.5023G>A (p.Gly1675Arg) c.5071G>A (p.Gly1691Arg) c.4849G>A (p.Gly1617Arg) c.4984G>A (p.Gly1662Arg) c.4948G>A (p.Gly1650Arg) c.5074G>A (p.Gly1692Arg) c.5002G>A (p.Gly1668Arg) c.4990G>A (p.Gly1664Arg) | |
X | g.108157054A= | CA2450541940 | COL4A6 | c.5019T= (p.Ala1673=) c.5022T= (p.Ala1674=) c.5070T= (p.Ala1690=) c.4848T= (p.Ala1616=) c.4983T= (p.Ala1661=) c.4947T= (p.Ala1649=) c.5073T= (p.Ala1691=) c.5001T= (p.Ala1667=) c.4989T= (p.Ala1663=) | |
X | g.108157054A>C | CA518100673 | COL4A6 | c.5019T>G (p.Ala1673=) c.5022T>G (p.Ala1674=) c.5070T>G (p.Ala1690=) c.4848T>G (p.Ala1616=) c.4983T>G (p.Ala1661=) c.4947T>G (p.Ala1649=) c.5073T>G (p.Ala1691=) c.5001T>G (p.Ala1667=) c.4989T>G (p.Ala1663=) | |
X | g.108157054A>G | CA518100674 | COL4A6 | c.5019T>C (p.Ala1673=) c.5022T>C (p.Ala1674=) c.5070T>C (p.Ala1690=) c.4848T>C (p.Ala1616=) c.4983T>C (p.Ala1661=) c.4947T>C (p.Ala1649=) c.5073T>C (p.Ala1691=) c.5001T>C (p.Ala1667=) c.4989T>C (p.Ala1663=) | |
X | g.108157054A>T | CA518100675 | COL4A6 | c.5019T>A (p.Ala1673=) c.5022T>A (p.Ala1674=) c.5070T>A (p.Ala1690=) c.4848T>A (p.Ala1616=) c.4983T>A (p.Ala1661=) c.4947T>A (p.Ala1649=) c.5073T>A (p.Ala1691=) c.5001T>A (p.Ala1667=) c.4989T>A (p.Ala1663=) | dbSNP |
X | g.108157055G>A | CA10487075 | COL4A6 | c.5018C>T (p.Ala1673Val) c.5021C>T (p.Ala1674Val) c.5069C>T (p.Ala1690Val) c.4847C>T (p.Ala1616Val) c.4982C>T (p.Ala1661Val) c.4946C>T (p.Ala1649Val) c.5072C>T (p.Ala1691Val) c.5000C>T (p.Ala1667Val) c.4988C>T (p.Ala1663Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108157055G>C | CA10487076 | COL4A6 | c.5018C>G (p.Ala1673Gly) c.5021C>G (p.Ala1674Gly) c.5069C>G (p.Ala1690Gly) c.4847C>G (p.Ala1616Gly) c.4982C>G (p.Ala1661Gly) c.4946C>G (p.Ala1649Gly) c.5072C>G (p.Ala1691Gly) c.5000C>G (p.Ala1667Gly) c.4988C>G (p.Ala1663Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108157055G= | CA2450541941 | COL4A6 | c.5018C= (p.Ala1673=) c.5021C= (p.Ala1674=) c.5069C= (p.Ala1690=) c.4847C= (p.Ala1616=) c.4982C= (p.Ala1661=) c.4946C= (p.Ala1649=) c.5072C= (p.Ala1691=) c.5000C= (p.Ala1667=) c.4988C= (p.Ala1663=) | |
X | g.108157055G>T | CA413847990 | COL4A6 | c.5018C>A (p.Ala1673Asp) c.5021C>A (p.Ala1674Asp) c.5069C>A (p.Ala1690Asp) c.4847C>A (p.Ala1616Asp) c.4982C>A (p.Ala1661Asp) c.4946C>A (p.Ala1649Asp) c.5072C>A (p.Ala1691Asp) c.5000C>A (p.Ala1667Asp) c.4988C>A (p.Ala1663Asp) | |
X | g.108157056C>A | CA413847993 | COL4A6 | c.5017G>T (p.Ala1673Ser) c.5020G>T (p.Ala1674Ser) c.5068G>T (p.Ala1690Ser) c.4846G>T (p.Ala1616Ser) c.4981G>T (p.Ala1661Ser) c.4945G>T (p.Ala1649Ser) c.5071G>T (p.Ala1691Ser) c.4999G>T (p.Ala1667Ser) c.4987G>T (p.Ala1663Ser) | |
X | g.108157056C= | CA2450541942 | COL4A6 | c.5017G= (p.Ala1673=) c.5020G= (p.Ala1674=) c.5068G= (p.Ala1690=) c.4846G= (p.Ala1616=) c.4981G= (p.Ala1661=) c.4945G= (p.Ala1649=) c.5071G= (p.Ala1691=) c.4999G= (p.Ala1667=) c.4987G= (p.Ala1663=) | |
X | g.108157056C>G | CA413847992 | COL4A6 | c.5017G>C (p.Ala1673Pro) c.5020G>C (p.Ala1674Pro) c.5068G>C (p.Ala1690Pro) c.4846G>C (p.Ala1616Pro) c.4981G>C (p.Ala1661Pro) c.4945G>C (p.Ala1649Pro) c.5071G>C (p.Ala1691Pro) c.4999G>C (p.Ala1667Pro) c.4987G>C (p.Ala1663Pro) | |
X | g.108157056C>T | CA413847991 | COL4A6 | c.5017G>A (p.Ala1673Thr) c.5020G>A (p.Ala1674Thr) c.5068G>A (p.Ala1690Thr) c.4846G>A (p.Ala1616Thr) c.4981G>A (p.Ala1661Thr) c.4945G>A (p.Ala1649Thr) c.5071G>A (p.Ala1691Thr) c.4999G>A (p.Ala1667Thr) c.4987G>A (p.Ala1663Thr) | dbSNP gnomAD v4 |
X | g.108157057T>A | CA413847994 | COL4A6 | c.5016A>T (p.Lys1672Asn) c.5019A>T (p.Lys1673Asn) c.5067A>T (p.Lys1689Asn) c.4845A>T (p.Lys1615Asn) c.4980A>T (p.Lys1660Asn) c.4944A>T (p.Lys1648Asn) c.5070A>T (p.Lys1690Asn) c.4998A>T (p.Lys1666Asn) c.4986A>T (p.Lys1662Asn) | |
X | g.108157057T>C | CA518100679 | COL4A6 | c.5016A>G (p.Lys1672=) c.5019A>G (p.Lys1673=) c.5067A>G (p.Lys1689=) c.4845A>G (p.Lys1615=) c.4980A>G (p.Lys1660=) c.4944A>G (p.Lys1648=) c.5070A>G (p.Lys1690=) c.4998A>G (p.Lys1666=) c.4986A>G (p.Lys1662=) | |
X | g.108157057T>G | CA413847995 | COL4A6 | c.5016A>C (p.Lys1672Asn) c.5019A>C (p.Lys1673Asn) c.5067A>C (p.Lys1689Asn) c.4845A>C (p.Lys1615Asn) c.4980A>C (p.Lys1660Asn) c.4944A>C (p.Lys1648Asn) c.5070A>C (p.Lys1690Asn) c.4998A>C (p.Lys1666Asn) c.4986A>C (p.Lys1662Asn) | |
X | g.108157058T>A | CA413847997 | COL4A6 | c.5015A>T (p.Lys1672Ile) c.5018A>T (p.Lys1673Ile) c.5066A>T (p.Lys1689Ile) c.4844A>T (p.Lys1615Ile) c.4979A>T (p.Lys1660Ile) c.4943A>T (p.Lys1648Ile) c.5069A>T (p.Lys1690Ile) c.4997A>T (p.Lys1666Ile) c.4985A>T (p.Lys1662Ile) | |
X | g.108157058T>C | CA413847999 | COL4A6 | c.5015A>G (p.Lys1672Arg) c.5018A>G (p.Lys1673Arg) c.5066A>G (p.Lys1689Arg) c.4844A>G (p.Lys1615Arg) c.4979A>G (p.Lys1660Arg) c.4943A>G (p.Lys1648Arg) c.5069A>G (p.Lys1690Arg) c.4997A>G (p.Lys1666Arg) c.4985A>G (p.Lys1662Arg) | |
X | g.108157058T>G | CA413848001 | COL4A6 | c.5015A>C (p.Lys1672Thr) c.5018A>C (p.Lys1673Thr) c.5066A>C (p.Lys1689Thr) c.4844A>C (p.Lys1615Thr) c.4979A>C (p.Lys1660Thr) c.4943A>C (p.Lys1648Thr) c.5069A>C (p.Lys1690Thr) c.4997A>C (p.Lys1666Thr) c.4985A>C (p.Lys1662Thr) | |
X | g.108157059T>A | CA413848002 | COL4A6 | c.5014A>T (p.Lys1672Ter) c.5017A>T (p.Lys1673Ter) c.5065A>T (p.Lys1689Ter) c.4843A>T (p.Lys1615Ter) c.4978A>T (p.Lys1660Ter) c.4942A>T (p.Lys1648Ter) c.5068A>T (p.Lys1690Ter) c.4996A>T (p.Lys1666Ter) c.4984A>T (p.Lys1662Ter) | |
X | g.108157059T>C | CA413848003 | COL4A6 | c.5014A>G (p.Lys1672Glu) c.5017A>G (p.Lys1673Glu) c.5065A>G (p.Lys1689Glu) c.4843A>G (p.Lys1615Glu) c.4978A>G (p.Lys1660Glu) c.4942A>G (p.Lys1648Glu) c.5068A>G (p.Lys1690Glu) c.4996A>G (p.Lys1666Glu) c.4984A>G (p.Lys1662Glu) | |
X | g.108157059T>G | CA413848005 | COL4A6 | c.5014A>C (p.Lys1672Gln) c.5017A>C (p.Lys1673Gln) c.5065A>C (p.Lys1689Gln) c.4843A>C (p.Lys1615Gln) c.4978A>C (p.Lys1660Gln) c.4942A>C (p.Lys1648Gln) c.5068A>C (p.Lys1690Gln) c.4996A>C (p.Lys1666Gln) c.4984A>C (p.Lys1662Gln) | |
X | g.108157060C>A | CA518100681 | COL4A6 | c.5013G>T (p.Leu1671=) c.5016G>T (p.Leu1672=) c.5064G>T (p.Leu1688=) c.4842G>T (p.Leu1614=) c.4977G>T (p.Leu1659=) c.4941G>T (p.Leu1647=) c.5067G>T (p.Leu1689=) c.4995G>T (p.Leu1665=) c.4983G>T (p.Leu1661=) | |
X | g.108157060C>G | CA518100682 | COL4A6 | c.5013G>C (p.Leu1671=) c.5016G>C (p.Leu1672=) c.5064G>C (p.Leu1688=) c.4842G>C (p.Leu1614=) c.4977G>C (p.Leu1659=) c.4941G>C (p.Leu1647=) c.5067G>C (p.Leu1689=) c.4995G>C (p.Leu1665=) c.4983G>C (p.Leu1661=) | |
X | g.108157060C>T | CA518100683 | COL4A6 | c.5013G>A (p.Leu1671=) c.5016G>A (p.Leu1672=) c.5064G>A (p.Leu1688=) c.4842G>A (p.Leu1614=) c.4977G>A (p.Leu1659=) c.4941G>A (p.Leu1647=) c.5067G>A (p.Leu1689=) c.4995G>A (p.Leu1665=) c.4983G>A (p.Leu1661=) | |
X | g.108157061A>C | CA413848007 | COL4A6 | c.5012T>G (p.Leu1671Arg) c.5015T>G (p.Leu1672Arg) c.5063T>G (p.Leu1688Arg) c.4841T>G (p.Leu1614Arg) c.4976T>G (p.Leu1659Arg) c.4940T>G (p.Leu1647Arg) c.5066T>G (p.Leu1689Arg) c.4994T>G (p.Leu1665Arg) c.4982T>G (p.Leu1661Arg) | |
X | g.108157061A>G | CA413848009 | COL4A6 | c.5012T>C (p.Leu1671Pro) c.5015T>C (p.Leu1672Pro) c.5063T>C (p.Leu1688Pro) c.4841T>C (p.Leu1614Pro) c.4976T>C (p.Leu1659Pro) c.4940T>C (p.Leu1647Pro) c.5066T>C (p.Leu1689Pro) c.4994T>C (p.Leu1665Pro) c.4982T>C (p.Leu1661Pro) | |
X | g.108157061A>T | CA413848010 | COL4A6 | c.5012T>A (p.Leu1671Gln) c.5015T>A (p.Leu1672Gln) c.5063T>A (p.Leu1688Gln) c.4841T>A (p.Leu1614Gln) c.4976T>A (p.Leu1659Gln) c.4940T>A (p.Leu1647Gln) c.5066T>A (p.Leu1689Gln) c.4994T>A (p.Leu1665Gln) c.4982T>A (p.Leu1661Gln) | |
X | g.108157062G>A | CA518100684 | COL4A6 | c.5011C>T (p.Leu1671=) c.5014C>T (p.Leu1672=) c.5062C>T (p.Leu1688=) c.4840C>T (p.Leu1614=) c.4975C>T (p.Leu1659=) c.4939C>T (p.Leu1647=) c.5065C>T (p.Leu1689=) c.4993C>T (p.Leu1665=) c.4981C>T (p.Leu1661=) | |
X | g.108157062G>C | CA413848012 | COL4A6 | c.5011C>G (p.Leu1671Val) c.5014C>G (p.Leu1672Val) c.5062C>G (p.Leu1688Val) c.4840C>G (p.Leu1614Val) c.4975C>G (p.Leu1659Val) c.4939C>G (p.Leu1647Val) c.5065C>G (p.Leu1689Val) c.4993C>G (p.Leu1665Val) c.4981C>G (p.Leu1661Val) | |
X | g.108157062G>T | CA413848014 | COL4A6 | c.5011C>A (p.Leu1671Met) c.5014C>A (p.Leu1672Met) c.5062C>A (p.Leu1688Met) c.4840C>A (p.Leu1614Met) c.4975C>A (p.Leu1659Met) c.4939C>A (p.Leu1647Met) c.5065C>A (p.Leu1689Met) c.4993C>A (p.Leu1665Met) c.4981C>A (p.Leu1661Met) | |
X | g.108157063C>A | CA518100688 | COL4A6 | c.5010G>T (p.Thr1670=) c.5013G>T (p.Thr1671=) c.5061G>T (p.Thr1687=) c.4839G>T (p.Thr1613=) c.4974G>T (p.Thr1658=) c.4938G>T (p.Thr1646=) c.5064G>T (p.Thr1688=) c.4992G>T (p.Thr1664=) c.4980G>T (p.Thr1660=) | |
X | g.108157063C= | CA2450541943 | COL4A6 | c.5010G= (p.Thr1670=) c.5013G= (p.Thr1671=) c.5061G= (p.Thr1687=) c.4839G= (p.Thr1613=) c.4974G= (p.Thr1658=) c.4938G= (p.Thr1646=) c.5064G= (p.Thr1688=) c.4992G= (p.Thr1664=) c.4980G= (p.Thr1660=) | |
X | g.108157063C>G | CA518100689 | COL4A6 | c.5010G>C (p.Thr1670=) c.5013G>C (p.Thr1671=) c.5061G>C (p.Thr1687=) c.4839G>C (p.Thr1613=) c.4974G>C (p.Thr1658=) c.4938G>C (p.Thr1646=) c.5064G>C (p.Thr1688=) c.4992G>C (p.Thr1664=) c.4980G>C (p.Thr1660=) | |
X | g.108157063C>T | CA10487077 | COL4A6 | c.5010G>A (p.Thr1670=) c.5013G>A (p.Thr1671=) c.5061G>A (p.Thr1687=) c.4839G>A (p.Thr1613=) c.4974G>A (p.Thr1658=) c.4938G>A (p.Thr1646=) c.5064G>A (p.Thr1688=) c.4992G>A (p.Thr1664=) c.4980G>A (p.Thr1660=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108157064G>A | CA10487078 | COL4A6 | c.5009C>T (p.Thr1670Met) c.5012C>T (p.Thr1671Met) c.5060C>T (p.Thr1687Met) c.4838C>T (p.Thr1613Met) c.4973C>T (p.Thr1658Met) c.4937C>T (p.Thr1646Met) c.5063C>T (p.Thr1688Met) c.4991C>T (p.Thr1664Met) c.4979C>T (p.Thr1660Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.108157064G>C | CA413848017 | COL4A6 | c.5009C>G (p.Thr1670Arg) c.5012C>G (p.Thr1671Arg) c.5060C>G (p.Thr1687Arg) c.4838C>G (p.Thr1613Arg) c.4973C>G (p.Thr1658Arg) c.4937C>G (p.Thr1646Arg) c.5063C>G (p.Thr1688Arg) c.4991C>G (p.Thr1664Arg) c.4979C>G (p.Thr1660Arg) | |
X | g.108157064G= | CA2450541944 | COL4A6 | c.5009C= (p.Thr1670=) c.5012C= (p.Thr1671=) c.5060C= (p.Thr1687=) c.4838C= (p.Thr1613=) c.4973C= (p.Thr1658=) c.4937C= (p.Thr1646=) c.5063C= (p.Thr1688=) c.4991C= (p.Thr1664=) c.4979C= (p.Thr1660=) | |
X | g.108157064G>T | CA413848019 | COL4A6 | c.5009C>A (p.Thr1670Lys) c.5012C>A (p.Thr1671Lys) c.5060C>A (p.Thr1687Lys) c.4838C>A (p.Thr1613Lys) c.4973C>A (p.Thr1658Lys) c.4937C>A (p.Thr1646Lys) c.5063C>A (p.Thr1688Lys) c.4991C>A (p.Thr1664Lys) c.4979C>A (p.Thr1660Lys) | |
X | g.108157065T>A | CA413848022 | COL4A6 | c.5008A>T (p.Thr1670Ser) c.5011A>T (p.Thr1671Ser) c.5059A>T (p.Thr1687Ser) c.4837A>T (p.Thr1613Ser) c.4972A>T (p.Thr1658Ser) c.4936A>T (p.Thr1646Ser) c.5062A>T (p.Thr1688Ser) c.4990A>T (p.Thr1664Ser) c.4978A>T (p.Thr1660Ser) | |
X | g.108157065T>C | CA413848025 | COL4A6 | c.5008A>G (p.Thr1670Ala) c.5011A>G (p.Thr1671Ala) c.5059A>G (p.Thr1687Ala) c.4837A>G (p.Thr1613Ala) c.4972A>G (p.Thr1658Ala) c.4936A>G (p.Thr1646Ala) c.5062A>G (p.Thr1688Ala) c.4990A>G (p.Thr1664Ala) c.4978A>G (p.Thr1660Ala) | |
X | g.108157065T>G | CA413848024 | COL4A6 | c.5008A>C (p.Thr1670Pro) c.5011A>C (p.Thr1671Pro) c.5059A>C (p.Thr1687Pro) c.4837A>C (p.Thr1613Pro) c.4972A>C (p.Thr1658Pro) c.4936A>C (p.Thr1646Pro) c.5062A>C (p.Thr1688Pro) c.4990A>C (p.Thr1664Pro) c.4978A>C (p.Thr1660Pro) | |
X | g.108157066T>A | CA413848027 | COL4A6 | c.5007A>T (p.Glu1669Asp) c.5010A>T (p.Glu1670Asp) c.5058A>T (p.Glu1686Asp) c.4836A>T (p.Glu1612Asp) c.4971A>T (p.Glu1657Asp) c.4935A>T (p.Glu1645Asp) c.5061A>T (p.Glu1687Asp) c.4989A>T (p.Glu1663Asp) c.4977A>T (p.Glu1659Asp) | |
X | g.108157066T>C | CA518100690 | COL4A6 | c.5007A>G (p.Glu1669=) c.5010A>G (p.Glu1670=) c.5058A>G (p.Glu1686=) c.4836A>G (p.Glu1612=) c.4971A>G (p.Glu1657=) c.4935A>G (p.Glu1645=) c.5061A>G (p.Glu1687=) c.4989A>G (p.Glu1663=) c.4977A>G (p.Glu1659=) | |
X | g.108157066T>G | CA413848029 | COL4A6 | c.5007A>C (p.Glu1669Asp) c.5010A>C (p.Glu1670Asp) c.5058A>C (p.Glu1686Asp) c.4836A>C (p.Glu1612Asp) c.4971A>C (p.Glu1657Asp) c.4935A>C (p.Glu1645Asp) c.5061A>C (p.Glu1687Asp) c.4989A>C (p.Glu1663Asp) c.4977A>C (p.Glu1659Asp) | |
X | g.108157067T>A | CA413848031 | COL4A6 | c.5006A>T (p.Glu1669Val) c.5009A>T (p.Glu1670Val) c.5057A>T (p.Glu1686Val) c.4835A>T (p.Glu1612Val) c.4970A>T (p.Glu1657Val) c.4934A>T (p.Glu1645Val) c.5060A>T (p.Glu1687Val) c.4988A>T (p.Glu1663Val) c.4976A>T (p.Glu1659Val) | |
X | g.108157067T>C | CA413848033 | COL4A6 | c.5006A>G (p.Glu1669Gly) c.5009A>G (p.Glu1670Gly) c.5057A>G (p.Glu1686Gly) c.4835A>G (p.Glu1612Gly) c.4970A>G (p.Glu1657Gly) c.4934A>G (p.Glu1645Gly) c.5060A>G (p.Glu1687Gly) c.4988A>G (p.Glu1663Gly) c.4976A>G (p.Glu1659Gly) | |
X | g.108157067T>G | CA413848034 | COL4A6 | c.5006A>C (p.Glu1669Ala) c.5009A>C (p.Glu1670Ala) c.5057A>C (p.Glu1686Ala) c.4835A>C (p.Glu1612Ala) c.4970A>C (p.Glu1657Ala) c.4934A>C (p.Glu1645Ala) c.5060A>C (p.Glu1687Ala) c.4988A>C (p.Glu1663Ala) c.4976A>C (p.Glu1659Ala) | |
X | g.108157068C>A | CA413848036 | COL4A6 | c.5005G>T (p.Glu1669Ter) c.5008G>T (p.Glu1670Ter) c.5056G>T (p.Glu1686Ter) c.4834G>T (p.Glu1612Ter) c.4969G>T (p.Glu1657Ter) c.4933G>T (p.Glu1645Ter) c.5059G>T (p.Glu1687Ter) c.4987G>T (p.Glu1663Ter) c.4975G>T (p.Glu1659Ter) | |
X | g.108157068C>G | CA413848038 | COL4A6 | c.5005G>C (p.Glu1669Gln) c.5008G>C (p.Glu1670Gln) c.5056G>C (p.Glu1686Gln) c.4834G>C (p.Glu1612Gln) c.4969G>C (p.Glu1657Gln) c.4933G>C (p.Glu1645Gln) c.5059G>C (p.Glu1687Gln) c.4987G>C (p.Glu1663Gln) c.4975G>C (p.Glu1659Gln) | |
X | g.108157068C>T | CA413848040 | COL4A6 | c.5005G>A (p.Glu1669Lys) c.5008G>A (p.Glu1670Lys) c.5056G>A (p.Glu1686Lys) c.4834G>A (p.Glu1612Lys) c.4969G>A (p.Glu1657Lys) c.4933G>A (p.Glu1645Lys) c.5059G>A (p.Glu1687Lys) c.4987G>A (p.Glu1663Lys) c.4975G>A (p.Glu1659Lys) | |
X | g.108157069A>C | CA518100694 | COL4A6 | c.5004T>G (p.Ser1668=) c.5007T>G (p.Ser1669=) c.5055T>G (p.Ser1685=) c.4833T>G (p.Ser1611=) c.4968T>G (p.Ser1656=) c.4932T>G (p.Ser1644=) c.5058T>G (p.Ser1686=) c.4986T>G (p.Ser1662=) c.4974T>G (p.Ser1658=) | |
X | g.108157069A>G | CA518100695 | COL4A6 | c.5004T>C (p.Ser1668=) c.5007T>C (p.Ser1669=) c.5055T>C (p.Ser1685=) c.4833T>C (p.Ser1611=) c.4968T>C (p.Ser1656=) c.4932T>C (p.Ser1644=) c.5058T>C (p.Ser1686=) c.4986T>C (p.Ser1662=) c.4974T>C (p.Ser1658=) | |
X | g.108157069A>T | CA518100696 | COL4A6 | c.5004T>A (p.Ser1668=) c.5007T>A (p.Ser1669=) c.5055T>A (p.Ser1685=) c.4833T>A (p.Ser1611=) c.4968T>A (p.Ser1656=) c.4932T>A (p.Ser1644=) c.5058T>A (p.Ser1686=) c.4986T>A (p.Ser1662=) c.4974T>A (p.Ser1658=) | |
X | g.108157070G>A | CA413848042 | COL4A6 | c.5003C>T (p.Ser1668Phe) c.5006C>T (p.Ser1669Phe) c.5054C>T (p.Ser1685Phe) c.4832C>T (p.Ser1611Phe) c.4967C>T (p.Ser1656Phe) c.4931C>T (p.Ser1644Phe) c.5057C>T (p.Ser1686Phe) c.4985C>T (p.Ser1662Phe) c.4973C>T (p.Ser1658Phe) | |
X | g.108157070G>C | CA413848044 | COL4A6 | c.5003C>G (p.Ser1668Cys) c.5006C>G (p.Ser1669Cys) c.5054C>G (p.Ser1685Cys) c.4832C>G (p.Ser1611Cys) c.4967C>G (p.Ser1656Cys) c.4931C>G (p.Ser1644Cys) c.5057C>G (p.Ser1686Cys) c.4985C>G (p.Ser1662Cys) c.4973C>G (p.Ser1658Cys) | |
X | g.108157070G>T | CA413848046 | COL4A6 | c.5003C>A (p.Ser1668Tyr) c.5006C>A (p.Ser1669Tyr) c.5054C>A (p.Ser1685Tyr) c.4832C>A (p.Ser1611Tyr) c.4967C>A (p.Ser1656Tyr) c.4931C>A (p.Ser1644Tyr) c.5057C>A (p.Ser1686Tyr) c.4985C>A (p.Ser1662Tyr) c.4973C>A (p.Ser1658Tyr) | |
X | g.108157071A>C | CA413848052 | COL4A6 | c.5002T>G (p.Ser1668Ala) c.5005T>G (p.Ser1669Ala) c.5053T>G (p.Ser1685Ala) c.4831T>G (p.Ser1611Ala) c.4966T>G (p.Ser1656Ala) c.4930T>G (p.Ser1644Ala) c.5056T>G (p.Ser1686Ala) c.4984T>G (p.Ser1662Ala) c.4972T>G (p.Ser1658Ala) | |
X | g.108157071A>G | CA413848050 | COL4A6 | c.5002T>C (p.Ser1668Pro) c.5005T>C (p.Ser1669Pro) c.5053T>C (p.Ser1685Pro) c.4831T>C (p.Ser1611Pro) c.4966T>C (p.Ser1656Pro) c.4930T>C (p.Ser1644Pro) c.5056T>C (p.Ser1686Pro) c.4984T>C (p.Ser1662Pro) c.4972T>C (p.Ser1658Pro) | |
X | g.108157071A>T | CA413848048 | COL4A6 | c.5002T>A (p.Ser1668Thr) c.5005T>A (p.Ser1669Thr) c.5053T>A (p.Ser1685Thr) c.4831T>A (p.Ser1611Thr) c.4966T>A (p.Ser1656Thr) c.4930T>A (p.Ser1644Thr) c.5056T>A (p.Ser1686Thr) c.4984T>A (p.Ser1662Thr) c.4972T>A (p.Ser1658Thr) | |
X | g.108157072C>A | CA518100700 | COL4A6 | c.5001G>T (p.Val1667=) c.5004G>T (p.Val1668=) c.5052G>T (p.Val1684=) c.4830G>T (p.Val1610=) c.4965G>T (p.Val1655=) c.4929G>T (p.Val1643=) c.5055G>T (p.Val1685=) c.4983G>T (p.Val1661=) c.4971G>T (p.Val1657=) | |
X | g.108157072C>G | CA518100702 | COL4A6 | c.5001G>C (p.Val1667=) c.5004G>C (p.Val1668=) c.5052G>C (p.Val1684=) c.4830G>C (p.Val1610=) c.4965G>C (p.Val1655=) c.4929G>C (p.Val1643=) c.5055G>C (p.Val1685=) c.4983G>C (p.Val1661=) c.4971G>C (p.Val1657=) | |
X | g.108157072C>T | CA518100701 | COL4A6 | c.5001G>A (p.Val1667=) c.5004G>A (p.Val1668=) c.5052G>A (p.Val1684=) c.4830G>A (p.Val1610=) c.4965G>A (p.Val1655=) c.4929G>A (p.Val1643=) c.5055G>A (p.Val1685=) c.4983G>A (p.Val1661=) c.4971G>A (p.Val1657=) | |
X | g.108157073A>C | CA413848054 | COL4A6 | c.5000T>G (p.Val1667Gly) c.5003T>G (p.Val1668Gly) c.5051T>G (p.Val1684Gly) c.4829T>G (p.Val1610Gly) c.4964T>G (p.Val1655Gly) c.4928T>G (p.Val1643Gly) c.5054T>G (p.Val1685Gly) c.4982T>G (p.Val1661Gly) c.4970T>G (p.Val1657Gly) | |
X | g.108157073A>G | CA413848056 | COL4A6 | c.5000T>C (p.Val1667Ala) c.5003T>C (p.Val1668Ala) c.5051T>C (p.Val1684Ala) c.4829T>C (p.Val1610Ala) c.4964T>C (p.Val1655Ala) c.4928T>C (p.Val1643Ala) c.5054T>C (p.Val1685Ala) c.4982T>C (p.Val1661Ala) c.4970T>C (p.Val1657Ala) | |
X | g.108157073A>T | CA413848058 | COL4A6 | c.5000T>A (p.Val1667Glu) c.5003T>A (p.Val1668Glu) c.5051T>A (p.Val1684Glu) c.4829T>A (p.Val1610Glu) c.4964T>A (p.Val1655Glu) c.4928T>A (p.Val1643Glu) c.5054T>A (p.Val1685Glu) c.4982T>A (p.Val1661Glu) c.4970T>A (p.Val1657Glu) | |
X | g.108157074C>A | CA413848060 | COL4A6 | c.4999G>T (p.Val1667Leu) c.5002G>T (p.Val1668Leu) c.5050G>T (p.Val1684Leu) c.4828G>T (p.Val1610Leu) c.4963G>T (p.Val1655Leu) c.4927G>T (p.Val1643Leu) c.5053G>T (p.Val1685Leu) c.4981G>T (p.Val1661Leu) c.4969G>T (p.Val1657Leu) | |
X | g.108157074C>G | CA413848061 | COL4A6 | c.4999G>C (p.Val1667Leu) c.5002G>C (p.Val1668Leu) c.5050G>C (p.Val1684Leu) c.4828G>C (p.Val1610Leu) c.4963G>C (p.Val1655Leu) c.4927G>C (p.Val1643Leu) c.5053G>C (p.Val1685Leu) c.4981G>C (p.Val1661Leu) c.4969G>C (p.Val1657Leu) | |
X | g.108157074C>T | CA413848063 | COL4A6 | c.4999G>A (p.Val1667Met) c.5002G>A (p.Val1668Met) c.5050G>A (p.Val1684Met) c.4828G>A (p.Val1610Met) c.4963G>A (p.Val1655Met) c.4927G>A (p.Val1643Met) c.5053G>A (p.Val1685Met) c.4981G>A (p.Val1661Met) c.4969G>A (p.Val1657Met) | gnomAD v4 |
X | g.108157075A>C | CA518100709 | COL4A6 | c.4998T>G (p.Pro1666=) c.5001T>G (p.Pro1667=) c.5049T>G (p.Pro1683=) c.4827T>G (p.Pro1609=) c.4962T>G (p.Pro1654=) c.4926T>G (p.Pro1642=) c.5052T>G (p.Pro1684=) c.4980T>G (p.Pro1660=) c.4968T>G (p.Pro1656=) | |
X | g.108157075A>G | CA518100710 | COL4A6 | c.4998T>C (p.Pro1666=) c.5001T>C (p.Pro1667=) c.5049T>C (p.Pro1683=) c.4827T>C (p.Pro1609=) c.4962T>C (p.Pro1654=) c.4926T>C (p.Pro1642=) c.5052T>C (p.Pro1684=) c.4980T>C (p.Pro1660=) c.4968T>C (p.Pro1656=) | |
X | g.108157075A>T | CA518100711 | COL4A6 | c.4998T>A (p.Pro1666=) c.5001T>A (p.Pro1667=) c.5049T>A (p.Pro1683=) c.4827T>A (p.Pro1609=) c.4962T>A (p.Pro1654=) c.4926T>A (p.Pro1642=) c.5052T>A (p.Pro1684=) c.4980T>A (p.Pro1660=) c.4968T>A (p.Pro1656=) | |
X | g.108157076G>A | CA413848065 | COL4A6 | c.4997C>T (p.Pro1666Leu) c.5000C>T (p.Pro1667Leu) c.5048C>T (p.Pro1683Leu) c.4826C>T (p.Pro1609Leu) c.4961C>T (p.Pro1654Leu) c.4925C>T (p.Pro1642Leu) c.5051C>T (p.Pro1684Leu) c.4979C>T (p.Pro1660Leu) c.4967C>T (p.Pro1656Leu) | |
X | g.108157076G>C | CA413848067 | COL4A6 | c.4997C>G (p.Pro1666Arg) c.5000C>G (p.Pro1667Arg) c.5048C>G (p.Pro1683Arg) c.4826C>G (p.Pro1609Arg) c.4961C>G (p.Pro1654Arg) c.4925C>G (p.Pro1642Arg) c.5051C>G (p.Pro1684Arg) c.4979C>G (p.Pro1660Arg) c.4967C>G (p.Pro1656Arg) | |
X | g.108157076G>T | CA413848069 | COL4A6 | c.4997C>A (p.Pro1666His) c.5000C>A (p.Pro1667His) c.5048C>A (p.Pro1683His) c.4826C>A (p.Pro1609His) c.4961C>A (p.Pro1654His) c.4925C>A (p.Pro1642His) c.5051C>A (p.Pro1684His) c.4979C>A (p.Pro1660His) c.4967C>A (p.Pro1656His) | |
X | g.108157077G>A | CA413848071 | COL4A6 | c.4996C>T (p.Pro1666Ser) c.4999C>T (p.Pro1667Ser) c.5047C>T (p.Pro1683Ser) c.4825C>T (p.Pro1609Ser) c.4960C>T (p.Pro1654Ser) c.4924C>T (p.Pro1642Ser) c.5050C>T (p.Pro1684Ser) c.4978C>T (p.Pro1660Ser) c.4966C>T (p.Pro1656Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.108157077G>C | CA413848072 | COL4A6 | c.4996C>G (p.Pro1666Ala) c.4999C>G (p.Pro1667Ala) c.5047C>G (p.Pro1683Ala) c.4825C>G (p.Pro1609Ala) c.4960C>G (p.Pro1654Ala) c.4924C>G (p.Pro1642Ala) c.5050C>G (p.Pro1684Ala) c.4978C>G (p.Pro1660Ala) c.4966C>G (p.Pro1656Ala) | |
X | g.108157077G= | CA2450541945 | COL4A6 | c.4996C= (p.Pro1666=) c.4999C= (p.Pro1667=) c.5047C= (p.Pro1683=) c.4825C= (p.Pro1609=) c.4960C= (p.Pro1654=) c.4924C= (p.Pro1642=) c.5050C= (p.Pro1684=) c.4978C= (p.Pro1660=) c.4966C= (p.Pro1656=) | |
X | g.108157077G>T | CA413848074 | COL4A6 | c.4996C>A (p.Pro1666Thr) c.4999C>A (p.Pro1667Thr) c.5047C>A (p.Pro1683Thr) c.4825C>A (p.Pro1609Thr) c.4960C>A (p.Pro1654Thr) c.4924C>A (p.Pro1642Thr) c.5050C>A (p.Pro1684Thr) c.4978C>A (p.Pro1660Thr) c.4966C>A (p.Pro1656Thr) | |
X | g.108157078C>A | CA413848076 | COL4A6 | c.4995G>T (p.Leu1665Phe) c.4998G>T (p.Leu1666Phe) c.5046G>T (p.Leu1682Phe) c.4824G>T (p.Leu1608Phe) c.4959G>T (p.Leu1653Phe) c.4923G>T (p.Leu1641Phe) c.5049G>T (p.Leu1683Phe) c.4977G>T (p.Leu1659Phe) c.4965G>T (p.Leu1655Phe) | |
X | g.108157078C= | CA2450541946 | COL4A6 | c.4995G= (p.Leu1665=) c.4998G= (p.Leu1666=) c.5046G= (p.Leu1682=) c.4824G= (p.Leu1608=) c.4959G= (p.Leu1653=) c.4923G= (p.Leu1641=) c.5049G= (p.Leu1683=) c.4977G= (p.Leu1659=) c.4965G= (p.Leu1655=) | |
X | g.108157078C>G | CA413848078 | COL4A6 | c.4995G>C (p.Leu1665Phe) c.4998G>C (p.Leu1666Phe) c.5046G>C (p.Leu1682Phe) c.4824G>C (p.Leu1608Phe) c.4959G>C (p.Leu1653Phe) c.4923G>C (p.Leu1641Phe) c.5049G>C (p.Leu1683Phe) c.4977G>C (p.Leu1659Phe) c.4965G>C (p.Leu1655Phe) | gnomAD v4 |
X | g.108157078C>T | CA334033914 | COL4A6 | c.4995G>A (p.Leu1665=) c.4998G>A (p.Leu1666=) c.5046G>A (p.Leu1682=) c.4824G>A (p.Leu1608=) c.4959G>A (p.Leu1653=) c.4923G>A (p.Leu1641=) c.5049G>A (p.Leu1683=) c.4977G>A (p.Leu1659=) c.4965G>A (p.Leu1655=) | dbSNP |
X | g.108157079A= | CA2450541947 | COL4A6 | c.4994T= (p.Leu1665=) c.4997T= (p.Leu1666=) c.5045T= (p.Leu1682=) c.4823T= (p.Leu1608=) c.4958T= (p.Leu1653=) c.4922T= (p.Leu1641=) c.5048T= (p.Leu1683=) c.4976T= (p.Leu1659=) c.4964T= (p.Leu1655=) | |
X | g.108157079A>C | CA413848080 | COL4A6 | c.4994T>G (p.Leu1665Trp) c.4997T>G (p.Leu1666Trp) c.5045T>G (p.Leu1682Trp) c.4823T>G (p.Leu1608Trp) c.4958T>G (p.Leu1653Trp) c.4922T>G (p.Leu1641Trp) c.5048T>G (p.Leu1683Trp) c.4976T>G (p.Leu1659Trp) c.4964T>G (p.Leu1655Trp) | |
X | g.108157079A>G | CA10487079 | COL4A6 | c.4994T>C (p.Leu1665Ser) c.4997T>C (p.Leu1666Ser) c.5045T>C (p.Leu1682Ser) c.4823T>C (p.Leu1608Ser) c.4958T>C (p.Leu1653Ser) c.4922T>C (p.Leu1641Ser) c.5048T>C (p.Leu1683Ser) c.4976T>C (p.Leu1659Ser) c.4964T>C (p.Leu1655Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108157079A>T | CA413848082 | COL4A6 | c.4994T>A (p.Leu1665Ter) c.4997T>A (p.Leu1666Ter) c.5045T>A (p.Leu1682Ter) c.4823T>A (p.Leu1608Ter) c.4958T>A (p.Leu1653Ter) c.4922T>A (p.Leu1641Ter) c.5048T>A (p.Leu1683Ter) c.4976T>A (p.Leu1659Ter) c.4964T>A (p.Leu1655Ter) | |
X | g.108157080A= | CA2450541948 | COL4A6 | c.4993T= (p.Leu1665=) c.4996T= (p.Leu1666=) c.5044T= (p.Leu1682=) c.4822T= (p.Leu1608=) c.4957T= (p.Leu1653=) c.4921T= (p.Leu1641=) c.5047T= (p.Leu1683=) c.4975T= (p.Leu1659=) c.4963T= (p.Leu1655=) | |
X | g.108157080A>C | CA413848084 | COL4A6 | c.4993T>G (p.Leu1665Val) c.4996T>G (p.Leu1666Val) c.5044T>G (p.Leu1682Val) c.4822T>G (p.Leu1608Val) c.4957T>G (p.Leu1653Val) c.4921T>G (p.Leu1641Val) c.5047T>G (p.Leu1683Val) c.4975T>G (p.Leu1659Val) c.4963T>G (p.Leu1655Val) | |
X | g.108157080A>G | CA10487080 | COL4A6 | c.4993T>C (p.Leu1665=) c.4996T>C (p.Leu1666=) c.5044T>C (p.Leu1682=) c.4822T>C (p.Leu1608=) c.4957T>C (p.Leu1653=) c.4921T>C (p.Leu1641=) c.5047T>C (p.Leu1683=) c.4975T>C (p.Leu1659=) c.4963T>C (p.Leu1655=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108157080A>T | CA413848087 | COL4A6 | c.4993T>A (p.Leu1665Met) c.4996T>A (p.Leu1666Met) c.5044T>A (p.Leu1682Met) c.4822T>A (p.Leu1608Met) c.4957T>A (p.Leu1653Met) c.4921T>A (p.Leu1641Met) c.5047T>A (p.Leu1683Met) c.4975T>A (p.Leu1659Met) c.4963T>A (p.Leu1655Met) | |
X | g.108157081C>A | CA413848091 | COL4A6 | c.4992G>T (p.Glu1664Asp) c.4995G>T (p.Glu1665Asp) c.5043G>T (p.Glu1681Asp) c.4821G>T (p.Glu1607Asp) c.4956G>T (p.Glu1652Asp) c.4920G>T (p.Glu1640Asp) c.5046G>T (p.Glu1682Asp) c.4974G>T (p.Glu1658Asp) c.4962G>T (p.Glu1654Asp) | dbSNP |
X | g.108157081C= | CA2450541949 | COL4A6 | c.4992G= (p.Glu1664=) c.4995G= (p.Glu1665=) c.5043G= (p.Glu1681=) c.4821G= (p.Glu1607=) c.4956G= (p.Glu1652=) c.4920G= (p.Glu1640=) c.5046G= (p.Glu1682=) c.4974G= (p.Glu1658=) c.4962G= (p.Glu1654=) | |
X | g.108157081C>G | CA413848089 | COL4A6 | c.4992G>C (p.Glu1664Asp) c.4995G>C (p.Glu1665Asp) c.5043G>C (p.Glu1681Asp) c.4821G>C (p.Glu1607Asp) c.4956G>C (p.Glu1652Asp) c.4920G>C (p.Glu1640Asp) c.5046G>C (p.Glu1682Asp) c.4974G>C (p.Glu1658Asp) c.4962G>C (p.Glu1654Asp) | |
X | g.108157081C>T | CA518100718 | COL4A6 | c.4992G>A (p.Glu1664=) c.4995G>A (p.Glu1665=) c.5043G>A (p.Glu1681=) c.4821G>A (p.Glu1607=) c.4956G>A (p.Glu1652=) c.4920G>A (p.Glu1640=) c.5046G>A (p.Glu1682=) c.4974G>A (p.Glu1658=) c.4962G>A (p.Glu1654=) | |
X | g.108157082T>A | CA413848093 | COL4A6 | c.4991A>T (p.Glu1664Val) c.4994A>T (p.Glu1665Val) c.5042A>T (p.Glu1681Val) c.4820A>T (p.Glu1607Val) c.4955A>T (p.Glu1652Val) c.4919A>T (p.Glu1640Val) c.5045A>T (p.Glu1682Val) c.4973A>T (p.Glu1658Val) c.4961A>T (p.Glu1654Val) | |
X | g.108157082T>C | CA413848095 | COL4A6 | c.4991A>G (p.Glu1664Gly) c.4994A>G (p.Glu1665Gly) c.5042A>G (p.Glu1681Gly) c.4820A>G (p.Glu1607Gly) c.4955A>G (p.Glu1652Gly) c.4919A>G (p.Glu1640Gly) c.5045A>G (p.Glu1682Gly) c.4973A>G (p.Glu1658Gly) c.4961A>G (p.Glu1654Gly) | |
X | g.108157082T>G | CA413848096 | COL4A6 | c.4991A>C (p.Glu1664Ala) c.4994A>C (p.Glu1665Ala) c.5042A>C (p.Glu1681Ala) c.4820A>C (p.Glu1607Ala) c.4955A>C (p.Glu1652Ala) c.4919A>C (p.Glu1640Ala) c.5045A>C (p.Glu1682Ala) c.4973A>C (p.Glu1658Ala) c.4961A>C (p.Glu1654Ala) | |
X | g.108157083C>A | CA334033921 | COL4A6 | c.4990G>T (p.Glu1664Ter) c.4993G>T (p.Glu1665Ter) c.5041G>T (p.Glu1681Ter) c.4819G>T (p.Glu1607Ter) c.4954G>T (p.Glu1652Ter) c.4918G>T (p.Glu1640Ter) c.5044G>T (p.Glu1682Ter) c.4972G>T (p.Glu1658Ter) c.4960G>T (p.Glu1654Ter) | dbSNP |
X | g.108157083C= | CA2450541950 | COL4A6 | c.4990G= (p.Glu1664=) c.4993G= (p.Glu1665=) c.5041G= (p.Glu1681=) c.4819G= (p.Glu1607=) c.4954G= (p.Glu1652=) c.4918G= (p.Glu1640=) c.5044G= (p.Glu1682=) c.4972G= (p.Glu1658=) c.4960G= (p.Glu1654=) | |
X | g.108157083C>G | CA413848099 | COL4A6 | c.4990G>C (p.Glu1664Gln) c.4993G>C (p.Glu1665Gln) c.5041G>C (p.Glu1681Gln) c.4819G>C (p.Glu1607Gln) c.4954G>C (p.Glu1652Gln) c.4918G>C (p.Glu1640Gln) c.5044G>C (p.Glu1682Gln) c.4972G>C (p.Glu1658Gln) c.4960G>C (p.Glu1654Gln) | |
X | g.108157083C>T | CA413848100 | COL4A6 | c.4990G>A (p.Glu1664Lys) c.4993G>A (p.Glu1665Lys) c.5041G>A (p.Glu1681Lys) c.4819G>A (p.Glu1607Lys) c.4954G>A (p.Glu1652Lys) c.4918G>A (p.Glu1640Lys) c.5044G>A (p.Glu1682Lys) c.4972G>A (p.Glu1658Lys) c.4960G>A (p.Glu1654Lys) | |
X | g.108157084C>A | CA518100724 | COL4A6 | c.4989G>T (p.Gly1663=) c.4992G>T (p.Gly1664=) c.5040G>T (p.Gly1680=) c.4818G>T (p.Gly1606=) c.4953G>T (p.Gly1651=) c.4917G>T (p.Gly1639=) c.5043G>T (p.Gly1681=) c.4971G>T (p.Gly1657=) c.4959G>T (p.Gly1653=) | |
X | g.108157084C= | CA2450541951 | COL4A6 | c.4989G= (p.Gly1663=) c.4992G= (p.Gly1664=) c.5040G= (p.Gly1680=) c.4818G= (p.Gly1606=) c.4953G= (p.Gly1651=) c.4917G= (p.Gly1639=) c.5043G= (p.Gly1681=) c.4971G= (p.Gly1657=) c.4959G= (p.Gly1653=) | |
X | g.108157084C>G | CA518100726 | COL4A6 | c.4989G>C (p.Gly1663=) c.4992G>C (p.Gly1664=) c.5040G>C (p.Gly1680=) c.4818G>C (p.Gly1606=) c.4953G>C (p.Gly1651=) c.4917G>C (p.Gly1639=) c.5043G>C (p.Gly1681=) c.4971G>C (p.Gly1657=) c.4959G>C (p.Gly1653=) | gnomAD v4 |
X | g.108157084C>T | CA518100728 | COL4A6 | c.4989G>A (p.Gly1663=) c.4992G>A (p.Gly1664=) c.5040G>A (p.Gly1680=) c.4818G>A (p.Gly1606=) c.4953G>A (p.Gly1651=) c.4917G>A (p.Gly1639=) c.5043G>A (p.Gly1681=) c.4971G>A (p.Gly1657=) c.4959G>A (p.Gly1653=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108157085C>A | CA413848103 | COL4A6 | c.4988G>T (p.Gly1663Val) c.4991G>T (p.Gly1664Val) c.5039G>T (p.Gly1680Val) c.4817G>T (p.Gly1606Val) c.4952G>T (p.Gly1651Val) c.4916G>T (p.Gly1639Val) c.5042G>T (p.Gly1681Val) c.4970G>T (p.Gly1657Val) c.4958G>T (p.Gly1653Val) | |
X | g.108157085C>G | CA413848106 | COL4A6 | c.4988G>C (p.Gly1663Ala) c.4991G>C (p.Gly1664Ala) c.5039G>C (p.Gly1680Ala) c.4817G>C (p.Gly1606Ala) c.4952G>C (p.Gly1651Ala) c.4916G>C (p.Gly1639Ala) c.5042G>C (p.Gly1681Ala) c.4970G>C (p.Gly1657Ala) c.4958G>C (p.Gly1653Ala) | |
X | g.108157085C>T | CA413848105 | COL4A6 | c.4988G>A (p.Gly1663Glu) c.4991G>A (p.Gly1664Glu) c.5039G>A (p.Gly1680Glu) c.4817G>A (p.Gly1606Glu) c.4952G>A (p.Gly1651Glu) c.4916G>A (p.Gly1639Glu) c.5042G>A (p.Gly1681Glu) c.4970G>A (p.Gly1657Glu) c.4958G>A (p.Gly1653Glu) | |
X | g.108157086C>A | CA413848108 | COL4A6 | c.4987G>T (p.Gly1663Trp) c.4990G>T (p.Gly1664Trp) c.5038G>T (p.Gly1680Trp) c.4816G>T (p.Gly1606Trp) c.4951G>T (p.Gly1651Trp) c.4915G>T (p.Gly1639Trp) c.5041G>T (p.Gly1681Trp) c.4969G>T (p.Gly1657Trp) c.4957G>T (p.Gly1653Trp) | |
X | g.108157086C>G | CA413848110 | COL4A6 | c.4987G>C (p.Gly1663Arg) c.4990G>C (p.Gly1664Arg) c.5038G>C (p.Gly1680Arg) c.4816G>C (p.Gly1606Arg) c.4951G>C (p.Gly1651Arg) c.4915G>C (p.Gly1639Arg) c.5041G>C (p.Gly1681Arg) c.4969G>C (p.Gly1657Arg) c.4957G>C (p.Gly1653Arg) | |
X | g.108157086C>T | CA413848112 | COL4A6 | c.4987G>A (p.Gly1663Arg) c.4990G>A (p.Gly1664Arg) c.5038G>A (p.Gly1680Arg) c.4816G>A (p.Gly1606Arg) c.4951G>A (p.Gly1651Arg) c.4915G>A (p.Gly1639Arg) c.5041G>A (p.Gly1681Arg) c.4969G>A (p.Gly1657Arg) c.4957G>A (p.Gly1653Arg) | |
X | g.108157087A>C | CA413848114 | COL4A6 | c.4986T>G (p.Phe1662Leu) c.4989T>G (p.Phe1663Leu) c.5037T>G (p.Phe1679Leu) c.4815T>G (p.Phe1605Leu) c.4950T>G (p.Phe1650Leu) c.4914T>G (p.Phe1638Leu) c.5040T>G (p.Phe1680Leu) c.4968T>G (p.Phe1656Leu) c.4956T>G (p.Phe1652Leu) | |
X | g.108157087A>G | CA518100735 | COL4A6 | c.4986T>C (p.Phe1662=) c.4989T>C (p.Phe1663=) c.5037T>C (p.Phe1679=) c.4815T>C (p.Phe1605=) c.4950T>C (p.Phe1650=) c.4914T>C (p.Phe1638=) c.5040T>C (p.Phe1680=) c.4968T>C (p.Phe1656=) c.4956T>C (p.Phe1652=) | |
X | g.108157087A>T | CA413848115 | COL4A6 | c.4986T>A (p.Phe1662Leu) c.4989T>A (p.Phe1663Leu) c.5037T>A (p.Phe1679Leu) c.4815T>A (p.Phe1605Leu) c.4950T>A (p.Phe1650Leu) c.4914T>A (p.Phe1638Leu) c.5040T>A (p.Phe1680Leu) c.4968T>A (p.Phe1656Leu) c.4956T>A (p.Phe1652Leu) | |
X | g.108157088A= | CA2450541952 | COL4A6 | c.4985T= (p.Phe1662=) c.4988T= (p.Phe1663=) c.5036T= (p.Phe1679=) c.4814T= (p.Phe1605=) c.4949T= (p.Phe1650=) c.4913T= (p.Phe1638=) c.5039T= (p.Phe1680=) c.4967T= (p.Phe1656=) c.4955T= (p.Phe1652=) | |
X | g.108157088A>C | CA413848117 | COL4A6 | c.4985T>G (p.Phe1662Cys) c.4988T>G (p.Phe1663Cys) c.5036T>G (p.Phe1679Cys) c.4814T>G (p.Phe1605Cys) c.4949T>G (p.Phe1650Cys) c.4913T>G (p.Phe1638Cys) c.5039T>G (p.Phe1680Cys) c.4967T>G (p.Phe1656Cys) c.4955T>G (p.Phe1652Cys) | |
X | g.108157088A>G | CA413848119 | COL4A6 | c.4985T>C (p.Phe1662Ser) c.4988T>C (p.Phe1663Ser) c.5036T>C (p.Phe1679Ser) c.4814T>C (p.Phe1605Ser) c.4949T>C (p.Phe1650Ser) c.4913T>C (p.Phe1638Ser) c.5039T>C (p.Phe1680Ser) c.4967T>C (p.Phe1656Ser) c.4955T>C (p.Phe1652Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108157088A>T | CA413848120 | COL4A6 | c.4985T>A (p.Phe1662Tyr) c.4988T>A (p.Phe1663Tyr) c.5036T>A (p.Phe1679Tyr) c.4814T>A (p.Phe1605Tyr) c.4949T>A (p.Phe1650Tyr) c.4913T>A (p.Phe1638Tyr) c.5039T>A (p.Phe1680Tyr) c.4967T>A (p.Phe1656Tyr) c.4955T>A (p.Phe1652Tyr) | |
X | g.108157089A>C | CA413848123 | COL4A6 | c.4984T>G (p.Phe1662Val) c.4987T>G (p.Phe1663Val) c.5035T>G (p.Phe1679Val) c.4813T>G (p.Phe1605Val) c.4948T>G (p.Phe1650Val) c.4912T>G (p.Phe1638Val) c.5038T>G (p.Phe1680Val) c.4966T>G (p.Phe1656Val) c.4954T>G (p.Phe1652Val) | |
X | g.108157089A>G | CA413848124 | COL4A6 | c.4984T>C (p.Phe1662Leu) c.4987T>C (p.Phe1663Leu) c.5035T>C (p.Phe1679Leu) c.4813T>C (p.Phe1605Leu) c.4948T>C (p.Phe1650Leu) c.4912T>C (p.Phe1638Leu) c.5038T>C (p.Phe1680Leu) c.4966T>C (p.Phe1656Leu) c.4954T>C (p.Phe1652Leu) | |
X | g.108157089A>T | CA413848126 | COL4A6 | c.4984T>A (p.Phe1662Ile) c.4987T>A (p.Phe1663Ile) c.5035T>A (p.Phe1679Ile) c.4813T>A (p.Phe1605Ile) c.4948T>A (p.Phe1650Ile) c.4912T>A (p.Phe1638Ile) c.5038T>A (p.Phe1680Ile) c.4966T>A (p.Phe1656Ile) c.4954T>A (p.Phe1652Ile) | |
X | g.108157090C>A | CA413848129 | COL4A6 | c.4983G>T (p.Gln1661His) c.4986G>T (p.Gln1662His) c.5034G>T (p.Gln1678His) c.4812G>T (p.Gln1604His) c.4947G>T (p.Gln1649His) c.4911G>T (p.Gln1637His) c.5037G>T (p.Gln1679His) c.4965G>T (p.Gln1655His) c.4953G>T (p.Gln1651His) | |
X | g.108157090C>G | CA413848127 | COL4A6 | c.4983G>C (p.Gln1661His) c.4986G>C (p.Gln1662His) c.5034G>C (p.Gln1678His) c.4812G>C (p.Gln1604His) c.4947G>C (p.Gln1649His) c.4911G>C (p.Gln1637His) c.5037G>C (p.Gln1679His) c.4965G>C (p.Gln1655His) c.4953G>C (p.Gln1651His) | |
X | g.108157090C>T | CA518100740 | COL4A6 | c.4983G>A (p.Gln1661=) c.4986G>A (p.Gln1662=) c.5034G>A (p.Gln1678=) c.4812G>A (p.Gln1604=) c.4947G>A (p.Gln1649=) c.4911G>A (p.Gln1637=) c.5037G>A (p.Gln1679=) c.4965G>A (p.Gln1655=) c.4953G>A (p.Gln1651=) | |
X | g.108157091T>A | CA413848131 | COL4A6 | c.4982A>T (p.Gln1661Leu) c.4985A>T (p.Gln1662Leu) c.5033A>T (p.Gln1678Leu) c.4811A>T (p.Gln1604Leu) c.4946A>T (p.Gln1649Leu) c.4910A>T (p.Gln1637Leu) c.5036A>T (p.Gln1679Leu) c.4964A>T (p.Gln1655Leu) c.4952A>T (p.Gln1651Leu) | |
X | g.108157091T>C | CA413848134 | COL4A6 | c.4982A>G (p.Gln1661Arg) c.4985A>G (p.Gln1662Arg) c.5033A>G (p.Gln1678Arg) c.4811A>G (p.Gln1604Arg) c.4946A>G (p.Gln1649Arg) c.4910A>G (p.Gln1637Arg) c.5036A>G (p.Gln1679Arg) c.4964A>G (p.Gln1655Arg) c.4952A>G (p.Gln1651Arg) | |
X | g.108157091T>G | CA413848132 | COL4A6 | c.4982A>C (p.Gln1661Pro) c.4985A>C (p.Gln1662Pro) c.5033A>C (p.Gln1678Pro) c.4811A>C (p.Gln1604Pro) c.4946A>C (p.Gln1649Pro) c.4910A>C (p.Gln1637Pro) c.5036A>C (p.Gln1679Pro) c.4964A>C (p.Gln1655Pro) c.4952A>C (p.Gln1651Pro) | |
X | g.108157092G>A | CA413848137 | COL4A6 | c.4981C>T (p.Gln1661Ter) c.4984C>T (p.Gln1662Ter) c.5032C>T (p.Gln1678Ter) c.4810C>T (p.Gln1604Ter) c.4945C>T (p.Gln1649Ter) c.4909C>T (p.Gln1637Ter) c.5035C>T (p.Gln1679Ter) c.4963C>T (p.Gln1655Ter) c.4951C>T (p.Gln1651Ter) | |
X | g.108157092G>C | CA413848138 | COL4A6 | c.4981C>G (p.Gln1661Glu) c.4984C>G (p.Gln1662Glu) c.5032C>G (p.Gln1678Glu) c.4810C>G (p.Gln1604Glu) c.4945C>G (p.Gln1649Glu) c.4909C>G (p.Gln1637Glu) c.5035C>G (p.Gln1679Glu) c.4963C>G (p.Gln1655Glu) c.4951C>G (p.Gln1651Glu) | |
X | g.108157092G= | CA2450541953 | COL4A6 | c.4981C= (p.Gln1661=) c.4984C= (p.Gln1662=) c.5032C= (p.Gln1678=) c.4810C= (p.Gln1604=) c.4945C= (p.Gln1649=) c.4909C= (p.Gln1637=) c.5035C= (p.Gln1679=) c.4963C= (p.Gln1655=) c.4951C= (p.Gln1651=) | |
X | g.108157092G>T | CA334033925 | COL4A6 | c.4981C>A (p.Gln1661Lys) c.4984C>A (p.Gln1662Lys) c.5032C>A (p.Gln1678Lys) c.4810C>A (p.Gln1604Lys) c.4945C>A (p.Gln1649Lys) c.4909C>A (p.Gln1637Lys) c.5035C>A (p.Gln1679Lys) c.4963C>A (p.Gln1655Lys) c.4951C>A (p.Gln1651Lys) | dbSNP gnomAD v4 |
X | g.108157093C>A | CA413848141 | COL4A6 | c.4980G>T (p.Gln1660His) c.4983G>T (p.Gln1661His) c.5031G>T (p.Gln1677His) c.4809G>T (p.Gln1603His) c.4944G>T (p.Gln1648His) c.4908G>T (p.Gln1636His) c.5034G>T (p.Gln1678His) c.4962G>T (p.Gln1654His) c.4950G>T (p.Gln1650His) | |
X | g.108157093C>G | CA413848143 | COL4A6 | c.4980G>C (p.Gln1660His) c.4983G>C (p.Gln1661His) c.5031G>C (p.Gln1677His) c.4809G>C (p.Gln1603His) c.4944G>C (p.Gln1648His) c.4908G>C (p.Gln1636His) c.5034G>C (p.Gln1678His) c.4962G>C (p.Gln1654His) c.4950G>C (p.Gln1650His) | |
X | g.108157093C>T | CA518100746 | COL4A6 | c.4980G>A (p.Gln1660=) c.4983G>A (p.Gln1661=) c.5031G>A (p.Gln1677=) c.4809G>A (p.Gln1603=) c.4944G>A (p.Gln1648=) c.4908G>A (p.Gln1636=) c.5034G>A (p.Gln1678=) c.4962G>A (p.Gln1654=) c.4950G>A (p.Gln1650=) | |
X | g.108157094T>A | CA413848145 | COL4A6 | c.4979A>T (p.Gln1660Leu) c.4982A>T (p.Gln1661Leu) c.5030A>T (p.Gln1677Leu) c.4808A>T (p.Gln1603Leu) c.4943A>T (p.Gln1648Leu) c.4907A>T (p.Gln1636Leu) c.5033A>T (p.Gln1678Leu) c.4961A>T (p.Gln1654Leu) c.4949A>T (p.Gln1650Leu) | |
X | g.108157094T>C | CA413848147 | COL4A6 | c.4979A>G (p.Gln1660Arg) c.4982A>G (p.Gln1661Arg) c.5030A>G (p.Gln1677Arg) c.4808A>G (p.Gln1603Arg) c.4943A>G (p.Gln1648Arg) c.4907A>G (p.Gln1636Arg) c.5033A>G (p.Gln1678Arg) c.4961A>G (p.Gln1654Arg) c.4949A>G (p.Gln1650Arg) | |
X | g.108157094T>G | CA413848149 | COL4A6 | c.4979A>C (p.Gln1660Pro) c.4982A>C (p.Gln1661Pro) c.5030A>C (p.Gln1677Pro) c.4808A>C (p.Gln1603Pro) c.4943A>C (p.Gln1648Pro) c.4907A>C (p.Gln1636Pro) c.5033A>C (p.Gln1678Pro) c.4961A>C (p.Gln1654Pro) c.4949A>C (p.Gln1650Pro) | |
X | g.108157095G>A | CA413848150 | COL4A6 | c.4978C>T (p.Gln1660Ter) c.4981C>T (p.Gln1661Ter) c.5029C>T (p.Gln1677Ter) c.4807C>T (p.Gln1603Ter) c.4942C>T (p.Gln1648Ter) c.4906C>T (p.Gln1636Ter) c.5032C>T (p.Gln1678Ter) c.4960C>T (p.Gln1654Ter) c.4948C>T (p.Gln1650Ter) | |
X | g.108157095G>C | CA413848152 | COL4A6 | c.4978C>G (p.Gln1660Glu) c.4981C>G (p.Gln1661Glu) c.5029C>G (p.Gln1677Glu) c.4807C>G (p.Gln1603Glu) c.4942C>G (p.Gln1648Glu) c.4906C>G (p.Gln1636Glu) c.5032C>G (p.Gln1678Glu) c.4960C>G (p.Gln1654Glu) c.4948C>G (p.Gln1650Glu) | |
X | g.108157095G>T | CA413848154 | COL4A6 | c.4978C>A (p.Gln1660Lys) c.4981C>A (p.Gln1661Lys) c.5029C>A (p.Gln1677Lys) c.4807C>A (p.Gln1603Lys) c.4942C>A (p.Gln1648Lys) c.4906C>A (p.Gln1636Lys) c.5032C>A (p.Gln1678Lys) c.4960C>A (p.Gln1654Lys) c.4948C>A (p.Gln1650Lys) | |
X | g.108157096C>A | CA413848155 | COL4A6 | c.4977G>T (p.Arg1659Ser) c.4980G>T (p.Arg1660Ser) c.5028G>T (p.Arg1676Ser) c.4806G>T (p.Arg1602Ser) c.4941G>T (p.Arg1647Ser) c.4905G>T (p.Arg1635Ser) c.5031G>T (p.Arg1677Ser) c.4959G>T (p.Arg1653Ser) c.4947G>T (p.Arg1649Ser) | |
X | g.108157096C= | CA2450541954 | COL4A6 | c.4977G= (p.Arg1659=) c.4980G= (p.Arg1660=) c.5028G= (p.Arg1676=) c.4806G= (p.Arg1602=) c.4941G= (p.Arg1647=) c.4905G= (p.Arg1635=) c.5031G= (p.Arg1677=) c.4959G= (p.Arg1653=) c.4947G= (p.Arg1649=) | |
X | g.108157096C>G | CA413848157 | COL4A6 | c.4977G>C (p.Arg1659Ser) c.4980G>C (p.Arg1660Ser) c.5028G>C (p.Arg1676Ser) c.4806G>C (p.Arg1602Ser) c.4941G>C (p.Arg1647Ser) c.4905G>C (p.Arg1635Ser) c.5031G>C (p.Arg1677Ser) c.4959G>C (p.Arg1653Ser) c.4947G>C (p.Arg1649Ser) | |
X | g.108157096C>T | CA518100752 | COL4A6 | c.4977G>A (p.Arg1659=) c.4980G>A (p.Arg1660=) c.5028G>A (p.Arg1676=) c.4806G>A (p.Arg1602=) c.4941G>A (p.Arg1647=) c.4905G>A (p.Arg1635=) c.5031G>A (p.Arg1677=) c.4959G>A (p.Arg1653=) c.4947G>A (p.Arg1649=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108157097C>A | CA413848159 | COL4A6 | c.4976G>T (p.Arg1659Met) c.4979G>T (p.Arg1660Met) c.5027G>T (p.Arg1676Met) c.4805G>T (p.Arg1602Met) c.4940G>T (p.Arg1647Met) c.4904G>T (p.Arg1635Met) c.5030G>T (p.Arg1677Met) c.4958G>T (p.Arg1653Met) c.4946G>T (p.Arg1649Met) | |
X | g.108157097C>G | CA413848163 | COL4A6 | c.4976G>C (p.Arg1659Thr) c.4979G>C (p.Arg1660Thr) c.5027G>C (p.Arg1676Thr) c.4805G>C (p.Arg1602Thr) c.4940G>C (p.Arg1647Thr) c.4904G>C (p.Arg1635Thr) c.5030G>C (p.Arg1677Thr) c.4958G>C (p.Arg1653Thr) c.4946G>C (p.Arg1649Thr) | |
X | g.108157097C>T | CA413848161 | COL4A6 | c.4976G>A (p.Arg1659Lys) c.4979G>A (p.Arg1660Lys) c.5027G>A (p.Arg1676Lys) c.4805G>A (p.Arg1602Lys) c.4940G>A (p.Arg1647Lys) c.4904G>A (p.Arg1635Lys) c.5030G>A (p.Arg1677Lys) c.4958G>A (p.Arg1653Lys) c.4946G>A (p.Arg1649Lys) | |
X | g.108157098T>A | CA413848165 | COL4A6 | c.4975A>T (p.Arg1659Trp) c.4978A>T (p.Arg1660Trp) c.5026A>T (p.Arg1676Trp) c.4804A>T (p.Arg1602Trp) c.4939A>T (p.Arg1647Trp) c.4903A>T (p.Arg1635Trp) c.5029A>T (p.Arg1677Trp) c.4957A>T (p.Arg1653Trp) c.4945A>T (p.Arg1649Trp) | |
X | g.108157098T>C | CA413848166 | COL4A6 | c.4975A>G (p.Arg1659Gly) c.4978A>G (p.Arg1660Gly) c.5026A>G (p.Arg1676Gly) c.4804A>G (p.Arg1602Gly) c.4939A>G (p.Arg1647Gly) c.4903A>G (p.Arg1635Gly) c.5029A>G (p.Arg1677Gly) c.4957A>G (p.Arg1653Gly) c.4945A>G (p.Arg1649Gly) | gnomAD v4 |
X | g.108157098T>G | CA518100753 | COL4A6 | c.4975A>C (p.Arg1659=) c.4978A>C (p.Arg1660=) c.5026A>C (p.Arg1676=) c.4804A>C (p.Arg1602=) c.4939A>C (p.Arg1647=) c.4903A>C (p.Arg1635=) c.5029A>C (p.Arg1677=) c.4957A>C (p.Arg1653=) c.4945A>C (p.Arg1649=) | |
X | g.108157098_108157101delinsTCTC | CA2450541955 | COL4A6 | c.4972_4975delinsGAGA (p.Glu1658=) c.4975_4978delinsGAGA (p.Glu1659=) c.5023_5026delinsGAGA (p.Glu1675=) c.4801_4804delinsGAGA (p.Glu1601=) c.4936_4939delinsGAGA (p.Glu1646=) c.4900_4903delinsGAGA (p.Glu1634=) c.5026_5029delinsGAGA (p.Glu1676=) c.4954_4957delinsGAGA (p.Glu1652=) c.4942_4945delinsGAGA (p.Glu1648=) | |
X | g.108157099C>A | CA413848169 | COL4A6 | c.4974G>T (p.Glu1658Asp) c.4977G>T (p.Glu1659Asp) c.5025G>T (p.Glu1675Asp) c.4803G>T (p.Glu1601Asp) c.4938G>T (p.Glu1646Asp) c.4902G>T (p.Glu1634Asp) c.5028G>T (p.Glu1676Asp) c.4956G>T (p.Glu1652Asp) c.4944G>T (p.Glu1648Asp) | |
X | g.108157099C= | CA2450541956 | COL4A6 | c.4974G= (p.Glu1658=) c.4977G= (p.Glu1659=) c.5025G= (p.Glu1675=) c.4803G= (p.Glu1601=) c.4938G= (p.Glu1646=) c.4902G= (p.Glu1634=) c.5028G= (p.Glu1676=) c.4956G= (p.Glu1652=) c.4944G= (p.Glu1648=) | |
X | g.108157099C>G | CA413848170 | COL4A6 | c.4974G>C (p.Glu1658Asp) c.4977G>C (p.Glu1659Asp) c.5025G>C (p.Glu1675Asp) c.4803G>C (p.Glu1601Asp) c.4938G>C (p.Glu1646Asp) c.4902G>C (p.Glu1634Asp) c.5028G>C (p.Glu1676Asp) c.4956G>C (p.Glu1652Asp) c.4944G>C (p.Glu1648Asp) | |
X | g.108157099C>T | CA10487081 | COL4A6 | c.4974G>A (p.Glu1658=) c.4977G>A (p.Glu1659=) c.5025G>A (p.Glu1675=) c.4803G>A (p.Glu1601=) c.4938G>A (p.Glu1646=) c.4902G>A (p.Glu1634=) c.5028G>A (p.Glu1676=) c.4956G>A (p.Glu1652=) c.4944G>A (p.Glu1648=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108157103_108157105del | CA518100754 | COL4A6 | c.4972_4974del (p.Glu1658del) c.4975_4977del (p.Glu1659del) c.5023_5025del (p.Glu1675del) c.4801_4803del (p.Glu1601del) c.4936_4938del (p.Glu1646del) c.4900_4902del (p.Glu1634del) c.5026_5028del (p.Glu1676del) c.4954_4956del (p.Glu1652del) c.4942_4944del (p.Glu1648del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108157100T>A | CA413848173 | COL4A6 | c.4973A>T (p.Glu1658Val) c.4976A>T (p.Glu1659Val) c.5024A>T (p.Glu1675Val) c.4802A>T (p.Glu1601Val) c.4937A>T (p.Glu1646Val) c.4901A>T (p.Glu1634Val) c.5027A>T (p.Glu1676Val) c.4955A>T (p.Glu1652Val) c.4943A>T (p.Glu1648Val) | |
X | g.108157100T>C | CA413848175 | COL4A6 | c.4973A>G (p.Glu1658Gly) c.4976A>G (p.Glu1659Gly) c.5024A>G (p.Glu1675Gly) c.4802A>G (p.Glu1601Gly) c.4937A>G (p.Glu1646Gly) c.4901A>G (p.Glu1634Gly) c.5027A>G (p.Glu1676Gly) c.4955A>G (p.Glu1652Gly) c.4943A>G (p.Glu1648Gly) | |
X | g.108157100T>G | CA413848177 | COL4A6 | c.4973A>C (p.Glu1658Ala) c.4976A>C (p.Glu1659Ala) c.5024A>C (p.Glu1675Ala) c.4802A>C (p.Glu1601Ala) c.4937A>C (p.Glu1646Ala) c.4901A>C (p.Glu1634Ala) c.5027A>C (p.Glu1676Ala) c.4955A>C (p.Glu1652Ala) c.4943A>C (p.Glu1648Ala) | |
X | g.108157101C>A | CA413848179 | COL4A6 | c.4972G>T (p.Glu1658Ter) c.4975G>T (p.Glu1659Ter) c.5023G>T (p.Glu1675Ter) c.4801G>T (p.Glu1601Ter) c.4936G>T (p.Glu1646Ter) c.4900G>T (p.Glu1634Ter) c.5026G>T (p.Glu1676Ter) c.4954G>T (p.Glu1652Ter) c.4942G>T (p.Glu1648Ter) | gnomAD v4 |
X | g.108157101C>G | CA413848181 | COL4A6 | c.4972G>C (p.Glu1658Gln) c.4975G>C (p.Glu1659Gln) c.5023G>C (p.Glu1675Gln) c.4801G>C (p.Glu1601Gln) c.4936G>C (p.Glu1646Gln) c.4900G>C (p.Glu1634Gln) c.5026G>C (p.Glu1676Gln) c.4954G>C (p.Glu1652Gln) c.4942G>C (p.Glu1648Gln) | |
X | g.108157101C>T | CA413848183 | COL4A6 | c.4972G>A (p.Glu1658Lys) c.4975G>A (p.Glu1659Lys) c.5023G>A (p.Glu1675Lys) c.4801G>A (p.Glu1601Lys) c.4936G>A (p.Glu1646Lys) c.4900G>A (p.Glu1634Lys) c.5026G>A (p.Glu1676Lys) c.4954G>A (p.Glu1652Lys) c.4942G>A (p.Glu1648Lys) | gnomAD v4 |
X | g.108157102C>A | CA413848184 | COL4A6 | c.4971G>T (p.Glu1657Asp) c.4974G>T (p.Glu1658Asp) c.5022G>T (p.Glu1674Asp) c.4800G>T (p.Glu1600Asp) c.4935G>T (p.Glu1645Asp) c.4899G>T (p.Glu1633Asp) c.5025G>T (p.Glu1675Asp) c.4953G>T (p.Glu1651Asp) c.4941G>T (p.Glu1647Asp) | |
X | g.108157102C>G | CA413848186 | COL4A6 | c.4971G>C (p.Glu1657Asp) c.4974G>C (p.Glu1658Asp) c.5022G>C (p.Glu1674Asp) c.4800G>C (p.Glu1600Asp) c.4935G>C (p.Glu1645Asp) c.4899G>C (p.Glu1633Asp) c.5025G>C (p.Glu1675Asp) c.4953G>C (p.Glu1651Asp) c.4941G>C (p.Glu1647Asp) | |
X | g.108157102C>T | CA518100757 | COL4A6 | c.4971G>A (p.Glu1657=) c.4974G>A (p.Glu1658=) c.5022G>A (p.Glu1674=) c.4800G>A (p.Glu1600=) c.4935G>A (p.Glu1645=) c.4899G>A (p.Glu1633=) c.5025G>A (p.Glu1675=) c.4953G>A (p.Glu1651=) c.4941G>A (p.Glu1647=) | |
X | g.108157103T>A | CA413848188 | COL4A6 | c.4970A>T (p.Glu1657Val) c.4973A>T (p.Glu1658Val) c.5021A>T (p.Glu1674Val) c.4799A>T (p.Glu1600Val) c.4934A>T (p.Glu1645Val) c.4898A>T (p.Glu1633Val) c.5024A>T (p.Glu1675Val) c.4952A>T (p.Glu1651Val) c.4940A>T (p.Glu1647Val) | |
X | g.108157103T>C | CA413848190 | COL4A6 | c.4970A>G (p.Glu1657Gly) c.4973A>G (p.Glu1658Gly) c.5021A>G (p.Glu1674Gly) c.4799A>G (p.Glu1600Gly) c.4934A>G (p.Glu1645Gly) c.4898A>G (p.Glu1633Gly) c.5024A>G (p.Glu1675Gly) c.4952A>G (p.Glu1651Gly) c.4940A>G (p.Glu1647Gly) | |
X | g.108157103T>G | CA413848191 | COL4A6 | c.4970A>C (p.Glu1657Ala) c.4973A>C (p.Glu1658Ala) c.5021A>C (p.Glu1674Ala) c.4799A>C (p.Glu1600Ala) c.4934A>C (p.Glu1645Ala) c.4898A>C (p.Glu1633Ala) c.5024A>C (p.Glu1675Ala) c.4952A>C (p.Glu1651Ala) c.4940A>C (p.Glu1647Ala) | |
X | g.108157104C>A | CA413848194 | COL4A6 | c.4969G>T (p.Glu1657Ter) c.4972G>T (p.Glu1658Ter) c.5020G>T (p.Glu1674Ter) c.4798G>T (p.Glu1600Ter) c.4933G>T (p.Glu1645Ter) c.4897G>T (p.Glu1633Ter) c.5023G>T (p.Glu1675Ter) c.4951G>T (p.Glu1651Ter) c.4939G>T (p.Glu1647Ter) | gnomAD v3 gnomAD v4 |
X | g.108157104C= | CA2450541957 | COL4A6 | c.4969G= (p.Glu1657=) c.4972G= (p.Glu1658=) c.5020G= (p.Glu1674=) c.4798G= (p.Glu1600=) c.4933G= (p.Glu1645=) c.4897G= (p.Glu1633=) c.5023G= (p.Glu1675=) c.4951G= (p.Glu1651=) c.4939G= (p.Glu1647=) | |
X | g.108157104C>G | CA413848195 | COL4A6 | c.4969G>C (p.Glu1657Gln) c.4972G>C (p.Glu1658Gln) c.5020G>C (p.Glu1674Gln) c.4798G>C (p.Glu1600Gln) c.4933G>C (p.Glu1645Gln) c.4897G>C (p.Glu1633Gln) c.5023G>C (p.Glu1675Gln) c.4951G>C (p.Glu1651Gln) c.4939G>C (p.Glu1647Gln) | |
X | g.108157104C>T | CA413848197 | COL4A6 | c.4969G>A (p.Glu1657Lys) c.4972G>A (p.Glu1658Lys) c.5020G>A (p.Glu1674Lys) c.4798G>A (p.Glu1600Lys) c.4933G>A (p.Glu1645Lys) c.4897G>A (p.Glu1633Lys) c.5023G>A (p.Glu1675Lys) c.4951G>A (p.Glu1651Lys) c.4939G>A (p.Glu1647Lys) | dbSNP |
X | g.108157105C>A | CA518100761 | COL4A6 | c.4968G>T (p.Val1656=) c.4971G>T (p.Val1657=) c.5019G>T (p.Val1673=) c.4797G>T (p.Val1599=) c.4932G>T (p.Val1644=) c.4896G>T (p.Val1632=) c.5022G>T (p.Val1674=) c.4950G>T (p.Val1650=) c.4938G>T (p.Val1646=) | |
X | g.108157105C>G | CA518100762 | COL4A6 | c.4968G>C (p.Val1656=) c.4971G>C (p.Val1657=) c.5019G>C (p.Val1673=) c.4797G>C (p.Val1599=) c.4932G>C (p.Val1644=) c.4896G>C (p.Val1632=) c.5022G>C (p.Val1674=) c.4950G>C (p.Val1650=) c.4938G>C (p.Val1646=) | |
X | g.108157105C>T | CA518100764 | COL4A6 | c.4968G>A (p.Val1656=) c.4971G>A (p.Val1657=) c.5019G>A (p.Val1673=) c.4797G>A (p.Val1599=) c.4932G>A (p.Val1644=) c.4896G>A (p.Val1632=) c.5022G>A (p.Val1674=) c.4950G>A (p.Val1650=) c.4938G>A (p.Val1646=) | |
X | g.108157106A>C | CA413848199 | COL4A6 | c.4967T>G (p.Val1656Gly) c.4970T>G (p.Val1657Gly) c.5018T>G (p.Val1673Gly) c.4796T>G (p.Val1599Gly) c.4931T>G (p.Val1644Gly) c.4895T>G (p.Val1632Gly) c.5021T>G (p.Val1674Gly) c.4949T>G (p.Val1650Gly) c.4937T>G (p.Val1646Gly) | |
X | g.108157106A>G | CA413848201 | COL4A6 | c.4967T>C (p.Val1656Ala) c.4970T>C (p.Val1657Ala) c.5018T>C (p.Val1673Ala) c.4796T>C (p.Val1599Ala) c.4931T>C (p.Val1644Ala) c.4895T>C (p.Val1632Ala) c.5021T>C (p.Val1674Ala) c.4949T>C (p.Val1650Ala) c.4937T>C (p.Val1646Ala) | |
X | g.108157106A>T | CA413848203 | COL4A6 | c.4967T>A (p.Val1656Glu) c.4970T>A (p.Val1657Glu) c.5018T>A (p.Val1673Glu) c.4796T>A (p.Val1599Glu) c.4931T>A (p.Val1644Glu) c.4895T>A (p.Val1632Glu) c.5021T>A (p.Val1674Glu) c.4949T>A (p.Val1650Glu) c.4937T>A (p.Val1646Glu) | |
X | g.108157107C>A | CA413848205 | COL4A6 | c.4966G>T (p.Val1656Leu) c.4969G>T (p.Val1657Leu) c.5017G>T (p.Val1673Leu) c.4795G>T (p.Val1599Leu) c.4930G>T (p.Val1644Leu) c.4894G>T (p.Val1632Leu) c.5020G>T (p.Val1674Leu) c.4948G>T (p.Val1650Leu) c.4936G>T (p.Val1646Leu) | |
X | g.108157107C>G | CA413848207 | COL4A6 | c.4966G>C (p.Val1656Leu) c.4969G>C (p.Val1657Leu) c.5017G>C (p.Val1673Leu) c.4795G>C (p.Val1599Leu) c.4930G>C (p.Val1644Leu) c.4894G>C (p.Val1632Leu) c.5020G>C (p.Val1674Leu) c.4948G>C (p.Val1650Leu) c.4936G>C (p.Val1646Leu) | |
X | g.108157107C>T | CA413848209 | COL4A6 | c.4966G>A (p.Val1656Met) c.4969G>A (p.Val1657Met) c.5017G>A (p.Val1673Met) c.4795G>A (p.Val1599Met) c.4930G>A (p.Val1644Met) c.4894G>A (p.Val1632Met) c.5020G>A (p.Val1674Met) c.4948G>A (p.Val1650Met) c.4936G>A (p.Val1646Met) | |
X | g.108157108T>A | CA518100767 | COL4A6 | c.4965A>T (p.Thr1655=) c.4968A>T (p.Thr1656=) c.5016A>T (p.Thr1672=) c.4794A>T (p.Thr1598=) c.4929A>T (p.Thr1643=) c.4893A>T (p.Thr1631=) c.5019A>T (p.Thr1673=) c.4947A>T (p.Thr1649=) c.4935A>T (p.Thr1645=) | |
X | g.108157108T>C | CA518100768 | COL4A6 | c.4965A>G (p.Thr1655=) c.4968A>G (p.Thr1656=) c.5016A>G (p.Thr1672=) c.4794A>G (p.Thr1598=) c.4929A>G (p.Thr1643=) c.4893A>G (p.Thr1631=) c.5019A>G (p.Thr1673=) c.4947A>G (p.Thr1649=) c.4935A>G (p.Thr1645=) | |
X | g.108157108T>G | CA518100769 | COL4A6 | c.4965A>C (p.Thr1655=) c.4968A>C (p.Thr1656=) c.5016A>C (p.Thr1672=) c.4794A>C (p.Thr1598=) c.4929A>C (p.Thr1643=) c.4893A>C (p.Thr1631=) c.5019A>C (p.Thr1673=) c.4947A>C (p.Thr1649=) c.4935A>C (p.Thr1645=) | |
X | g.108157109G>A | CA413848212 | COL4A6 | c.4964C>T (p.Thr1655Ile) c.4967C>T (p.Thr1656Ile) c.5015C>T (p.Thr1672Ile) c.4793C>T (p.Thr1598Ile) c.4928C>T (p.Thr1643Ile) c.4892C>T (p.Thr1631Ile) c.5018C>T (p.Thr1673Ile) c.4946C>T (p.Thr1649Ile) c.4934C>T (p.Thr1645Ile) | |
X | g.108157109G>C | CA413848214 | COL4A6 | c.4964C>G (p.Thr1655Arg) c.4967C>G (p.Thr1656Arg) c.5015C>G (p.Thr1672Arg) c.4793C>G (p.Thr1598Arg) c.4928C>G (p.Thr1643Arg) c.4892C>G (p.Thr1631Arg) c.5018C>G (p.Thr1673Arg) c.4946C>G (p.Thr1649Arg) c.4934C>G (p.Thr1645Arg) | |
X | g.108157109G>T | CA413848211 | COL4A6 | c.4964C>A (p.Thr1655Lys) c.4967C>A (p.Thr1656Lys) c.5015C>A (p.Thr1672Lys) c.4793C>A (p.Thr1598Lys) c.4928C>A (p.Thr1643Lys) c.4892C>A (p.Thr1631Lys) c.5018C>A (p.Thr1673Lys) c.4946C>A (p.Thr1649Lys) c.4934C>A (p.Thr1645Lys) | |
X | g.108157110T>A | CA413848216 | COL4A6 | c.4963A>T (p.Thr1655Ser) c.4966A>T (p.Thr1656Ser) c.5014A>T (p.Thr1672Ser) c.4792A>T (p.Thr1598Ser) c.4927A>T (p.Thr1643Ser) c.4891A>T (p.Thr1631Ser) c.5017A>T (p.Thr1673Ser) c.4945A>T (p.Thr1649Ser) c.4933A>T (p.Thr1645Ser) | |
X | g.108157110T>C | CA413848218 | COL4A6 | c.4963A>G (p.Thr1655Ala) c.4966A>G (p.Thr1656Ala) c.5014A>G (p.Thr1672Ala) c.4792A>G (p.Thr1598Ala) c.4927A>G (p.Thr1643Ala) c.4891A>G (p.Thr1631Ala) c.5017A>G (p.Thr1673Ala) c.4945A>G (p.Thr1649Ala) c.4933A>G (p.Thr1645Ala) | gnomAD v4 |
X | g.108157110T>G | CA413848219 | COL4A6 | c.4963A>C (p.Thr1655Pro) c.4966A>C (p.Thr1656Pro) c.5014A>C (p.Thr1672Pro) c.4792A>C (p.Thr1598Pro) c.4927A>C (p.Thr1643Pro) c.4891A>C (p.Thr1631Pro) c.5017A>C (p.Thr1673Pro) c.4945A>C (p.Thr1649Pro) c.4933A>C (p.Thr1645Pro) |