Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108156997_108157052dupCA2694428809COL4A6c.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
Xg.108157012C>ACA413847850COL4A6c.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)
Xg.108157012C>GCA413847851COL4A6c.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)
Xg.108157012C>TCA413847853COL4A6c.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
Xg.108157013A>CCA413847858COL4A6c.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)
Xg.108157013A>GCA413847855COL4A6c.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)
Xg.108157013A>TCA413847856COL4A6c.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)
Xg.108157014T>ACA413847861COL4A6c.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
Xg.108157014T>CCA413847862COL4A6c.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
Xg.108157014T>GCA413847863COL4A6c.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)
Xg.108157014T=CA2450541931COL4A6c.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=)
Xg.108157015A>CCA413847865COL4A6c.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)
Xg.108157015A>GCA518100581COL4A6c.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
Xg.108157015A>TCA413847866COL4A6c.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)
Xg.108157017_108157035delCA2694428828COL4A6c.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
Xg.108157016C>ACA413847868COL4A6c.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)
Xg.108157016C>GCA413847872COL4A6c.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)
Xg.108157016C>TCA413847870COL4A6c.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)
Xg.108157017A>CCA413847874COL4A6c.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)
Xg.108157017A>GCA413847876COL4A6c.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)
Xg.108157017A>TCA413847878COL4A6c.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)
Xg.108157018C>ACA518100591COL4A6c.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=)
Xg.108157018C>GCA518100589COL4A6c.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
Xg.108157018C>TCA518100588COL4A6c.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=)
Xg.108157019A>CCA413847879COL4A6c.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)
Xg.108157019A>GCA413847880COL4A6c.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)
Xg.108157019A>TCA413847882COL4A6c.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)
Xg.108157020C>ACA413847885COL4A6c.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
Xg.108157020C>GCA413847886COL4A6c.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)
Xg.108157020C>TCA413847888COL4A6c.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)
Xg.108157021C>ACA413847891COL4A6c.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)
Xg.108157021C=CA2450541932COL4A6c.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=)
Xg.108157021C>GCA10487071COL4A6c.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
Xg.108157021C>TCA518100598COL4A6c.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=)
Xg.108157022T>ACA413847893COL4A6c.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)
Xg.108157022T>CCA413847897COL4A6c.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)
Xg.108157022T>GCA413847895COL4A6c.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)
Xg.108157023G>ACA413847899COL4A6c.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)
Xg.108157023G>CCA413847900COL4A6c.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)
Xg.108157023G>TCA413847902COL4A6c.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)
Xg.108157024delCA2822887521COL4A6c.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)
Xg.108157024G>ACA518100606COL4A6c.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=)
Xg.108157024G>CCA413847904COL4A6c.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)
Xg.108157024G>TCA413847906COL4A6c.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)
Xg.108157025C>ACA413847908COL4A6c.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)
Xg.108157025C>GCA413847910COL4A6c.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)
Xg.108157025C>TCA413847912COL4A6c.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)
Xg.108157026_108157027insTACACACCTACACA2694428838COL4A6c.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
Xg.108157029_108157056delCA2694428839COL4A6c.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
Xg.108157026A>CCA413847914COL4A6c.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)
Xg.108157026A>GCA413847915COL4A6c.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)
Xg.108157026A>TCA413847917COL4A6c.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)
Xg.108157027G>ACA518100607COL4A6c.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=)
Xg.108157027G>CCA518100608COL4A6c.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=)
Xg.108157027G>TCA518100609COL4A6c.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=)
Xg.108157027_108157028insGCTTTTCATACACACTTTTCATACACA2694428840COL4A6c.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
Xg.108157028C>ACA413847922COL4A6c.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)
Xg.108157028C=CA2450541933COL4A6c.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=)
Xg.108157028C>GCA413847919COL4A6c.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)
Xg.108157028C>TCA413847921COL4A6c.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)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
Xg.108157029G>ACA10487072COL4A6c.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
Xg.108157029G>CCA413847924COL4A6c.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)
Xg.108157029G=CA2450541934COL4A6c.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=)
Xg.108157029G>TCA413847926COL4A6c.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
Xg.108157030A>CCA413847927COL4A6c.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)
Xg.108157030A>GCA518100616COL4A6c.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
Xg.108157030A>TCA413847928COL4A6c.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)
Xg.108157031C>ACA413847931COL4A6c.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)
Xg.108157031C=CA2450541935COL4A6c.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=)
Xg.108157031C>GCA413847933COL4A6c.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
Xg.108157031C>TCA413847935COL4A6c.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
Xg.108157032T>ACA413847937COL4A6c.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)
Xg.108157032T>CCA413847938COL4A6c.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)
Xg.108157032T>GCA413847940COL4A6c.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
Xg.108157033G>ACA518100624COL4A6c.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
Xg.108157033G>CCA518100625COL4A6c.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=)
Xg.108157033G>TCA518100626COL4A6c.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=)
Xg.108157034A>CCA413847943COL4A6c.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)
Xg.108157034A>GCA413847945COL4A6c.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)
Xg.108157034A>TCA413847942COL4A6c.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)
Xg.108157035C>ACA413847947COL4A6c.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)
Xg.108157035C>GCA413847949COL4A6c.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)
Xg.108157035C>TCA413847951COL4A6c.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
Xg.108157036T>ACA518100633COL4A6c.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=)
Xg.108157036T>CCA518100634COL4A6c.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=)
Xg.108157036T>GCA518100635COL4A6c.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
Xg.108157037C>ACA413847953COL4A6c.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)
Xg.108157037C=CA2450541936COL4A6c.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=)
Xg.108157037C>GCA413847954COL4A6c.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
Xg.108157037C>TCA10487073COL4A6c.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
Xg.108157038G>ACA413847955COL4A6c.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
Xg.108157038G>CCA413847956COL4A6c.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)
Xg.108157038G=CA2450541937COL4A6c.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=)
Xg.108157038G>TCA518100640COL4A6c.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=)
Xg.108157039A>CCA518100645COL4A6c.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=)
Xg.108157039A>GCA518100644COL4A6c.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=)
Xg.108157039A>TCA518100643COL4A6c.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=)
Xg.108157040G>ACA413847957COL4A6c.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
Xg.108157040G>CCA10487074COL4A6c.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
Xg.108157040G=CA2450541938COL4A6c.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=)
Xg.108157040G>TCA413847958COL4A6c.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)
Xg.108157041T>ACA413847959COL4A6c.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
Xg.108157041T>CCA413847960COL4A6c.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)
Xg.108157041T>GCA413847961COL4A6c.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
Xg.108157041T=CA2450541939COL4A6c.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=)
Xg.108157042G>ACA518100650COL4A6c.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=)
Xg.108157042G>CCA413847963COL4A6c.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)
Xg.108157042G>TCA413847962COL4A6c.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)
Xg.108157043T>ACA413847964COL4A6c.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)
Xg.108157043T>CCA413847965COL4A6c.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)
Xg.108157043T>GCA413847966COL4A6c.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)
Xg.108157044G>ACA413847967COL4A6c.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)
Xg.108157044G>CCA413847968COL4A6c.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)
Xg.108157044G>TCA413847969COL4A6c.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)
Xg.108157045G>ACA518100659COL4A6c.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=)
Xg.108157045G>CCA518100657COL4A6c.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=)
Xg.108157045G>TCA518100658COL4A6c.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=)
Xg.108157046A>CCA413847972COL4A6c.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)
Xg.108157046A>GCA413847970COL4A6c.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)
Xg.108157046A>TCA413847971COL4A6c.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)
Xg.108157047G>ACA413847973COL4A6c.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)
Xg.108157047G>CCA413847974COL4A6c.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)
Xg.108157047G>TCA413847975COL4A6c.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)
Xg.108157048C>ACA413847976COL4A6c.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)
Xg.108157048C>GCA413847977COL4A6c.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)
Xg.108157048C>TCA518100663COL4A6c.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=)
Xg.108157049T>ACA413847978COL4A6c.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)
Xg.108157049T>CCA413847980COL4A6c.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)
Xg.108157049T>GCA413847979COL4A6c.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)
Xg.108157050G>ACA413847981COL4A6c.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)
Xg.108157050G>CCA413847982COL4A6c.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)
Xg.108157050G>TCA413847983COL4A6c.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)
Xg.108157051C>ACA518100669COL4A6c.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=)
Xg.108157051C>GCA518100667COL4A6c.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=)
Xg.108157051C>TCA518100668COL4A6c.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=)
Xg.108157052C>ACA413847984COL4A6c.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)
Xg.108157052C>GCA413847985COL4A6c.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)
Xg.108157052C>TCA413847986COL4A6c.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
Xg.108157053C>ACA413847987COL4A6c.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
Xg.108157053C>GCA413847988COL4A6c.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)
Xg.108157053C>TCA413847989COL4A6c.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)
Xg.108157054A=CA2450541940COL4A6c.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=)
Xg.108157054A>CCA518100673COL4A6c.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=)
Xg.108157054A>GCA518100674COL4A6c.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=)
Xg.108157054A>TCA518100675COL4A6c.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
Xg.108157055G>ACA10487075COL4A6c.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
Xg.108157055G>CCA10487076COL4A6c.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
Xg.108157055G=CA2450541941COL4A6c.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=)
Xg.108157055G>TCA413847990COL4A6c.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)
Xg.108157056C>ACA413847993COL4A6c.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)
Xg.108157056C=CA2450541942COL4A6c.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=)
Xg.108157056C>GCA413847992COL4A6c.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)
Xg.108157056C>TCA413847991COL4A6c.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
Xg.108157057T>ACA413847994COL4A6c.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)
Xg.108157057T>CCA518100679COL4A6c.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=)
Xg.108157057T>GCA413847995COL4A6c.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)
Xg.108157058T>ACA413847997COL4A6c.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)
Xg.108157058T>CCA413847999COL4A6c.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)
Xg.108157058T>GCA413848001COL4A6c.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)
Xg.108157059T>ACA413848002COL4A6c.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)
Xg.108157059T>CCA413848003COL4A6c.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)
Xg.108157059T>GCA413848005COL4A6c.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)
Xg.108157060C>ACA518100681COL4A6c.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=)
Xg.108157060C>GCA518100682COL4A6c.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=)
Xg.108157060C>TCA518100683COL4A6c.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=)
Xg.108157061A>CCA413848007COL4A6c.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)
Xg.108157061A>GCA413848009COL4A6c.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)
Xg.108157061A>TCA413848010COL4A6c.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)
Xg.108157062G>ACA518100684COL4A6c.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=)
Xg.108157062G>CCA413848012COL4A6c.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)
Xg.108157062G>TCA413848014COL4A6c.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)
Xg.108157063C>ACA518100688COL4A6c.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=)
Xg.108157063C=CA2450541943COL4A6c.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=)
Xg.108157063C>GCA518100689COL4A6c.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=)
Xg.108157063C>TCA10487077COL4A6c.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
Xg.108157064G>ACA10487078COL4A6c.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
Xg.108157064G>CCA413848017COL4A6c.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)
Xg.108157064G=CA2450541944COL4A6c.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=)
Xg.108157064G>TCA413848019COL4A6c.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)
Xg.108157065T>ACA413848022COL4A6c.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)
Xg.108157065T>CCA413848025COL4A6c.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)
Xg.108157065T>GCA413848024COL4A6c.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)
Xg.108157066T>ACA413848027COL4A6c.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)
Xg.108157066T>CCA518100690COL4A6c.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=)
Xg.108157066T>GCA413848029COL4A6c.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)
Xg.108157067T>ACA413848031COL4A6c.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)
Xg.108157067T>CCA413848033COL4A6c.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)
Xg.108157067T>GCA413848034COL4A6c.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)
Xg.108157068C>ACA413848036COL4A6c.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)
Xg.108157068C>GCA413848038COL4A6c.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)
Xg.108157068C>TCA413848040COL4A6c.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)
Xg.108157069A>CCA518100694COL4A6c.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=)
Xg.108157069A>GCA518100695COL4A6c.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=)
Xg.108157069A>TCA518100696COL4A6c.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=)
Xg.108157070G>ACA413848042COL4A6c.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)
Xg.108157070G>CCA413848044COL4A6c.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)
Xg.108157070G>TCA413848046COL4A6c.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)
Xg.108157071A>CCA413848052COL4A6c.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)
Xg.108157071A>GCA413848050COL4A6c.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)
Xg.108157071A>TCA413848048COL4A6c.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)
Xg.108157072C>ACA518100700COL4A6c.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=)
Xg.108157072C>GCA518100702COL4A6c.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=)
Xg.108157072C>TCA518100701COL4A6c.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=)
Xg.108157073A>CCA413848054COL4A6c.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)
Xg.108157073A>GCA413848056COL4A6c.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)
Xg.108157073A>TCA413848058COL4A6c.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)
Xg.108157074C>ACA413848060COL4A6c.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)
Xg.108157074C>GCA413848061COL4A6c.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)
Xg.108157074C>TCA413848063COL4A6c.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
Xg.108157075A>CCA518100709COL4A6c.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=)
Xg.108157075A>GCA518100710COL4A6c.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=)
Xg.108157075A>TCA518100711COL4A6c.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=)
Xg.108157076G>ACA413848065COL4A6c.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)
Xg.108157076G>CCA413848067COL4A6c.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)
Xg.108157076G>TCA413848069COL4A6c.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)
Xg.108157077G>ACA413848071COL4A6c.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
Xg.108157077G>CCA413848072COL4A6c.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)
Xg.108157077G=CA2450541945COL4A6c.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=)
Xg.108157077G>TCA413848074COL4A6c.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)
Xg.108157078C>ACA413848076COL4A6c.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)
Xg.108157078C=CA2450541946COL4A6c.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=)
Xg.108157078C>GCA413848078COL4A6c.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
Xg.108157078C>TCA334033914COL4A6c.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
Xg.108157079A=CA2450541947COL4A6c.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=)
Xg.108157079A>CCA413848080COL4A6c.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)
Xg.108157079A>GCA10487079COL4A6c.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
Xg.108157079A>TCA413848082COL4A6c.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)
Xg.108157080A=CA2450541948COL4A6c.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=)
Xg.108157080A>CCA413848084COL4A6c.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)
Xg.108157080A>GCA10487080COL4A6c.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
Xg.108157080A>TCA413848087COL4A6c.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)
Xg.108157081C>ACA413848091COL4A6c.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
Xg.108157081C=CA2450541949COL4A6c.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=)
Xg.108157081C>GCA413848089COL4A6c.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)
Xg.108157081C>TCA518100718COL4A6c.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=)
Xg.108157082T>ACA413848093COL4A6c.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)
Xg.108157082T>CCA413848095COL4A6c.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)
Xg.108157082T>GCA413848096COL4A6c.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)
Xg.108157083C>ACA334033921COL4A6c.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
Xg.108157083C=CA2450541950COL4A6c.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=)
Xg.108157083C>GCA413848099COL4A6c.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)
Xg.108157083C>TCA413848100COL4A6c.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)
Xg.108157084C>ACA518100724COL4A6c.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=)
Xg.108157084C=CA2450541951COL4A6c.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=)
Xg.108157084C>GCA518100726COL4A6c.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
Xg.108157084C>TCA518100728COL4A6c.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
Xg.108157085C>ACA413848103COL4A6c.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)
Xg.108157085C>GCA413848106COL4A6c.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)
Xg.108157085C>TCA413848105COL4A6c.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)
Xg.108157086C>ACA413848108COL4A6c.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)
Xg.108157086C>GCA413848110COL4A6c.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)
Xg.108157086C>TCA413848112COL4A6c.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)
Xg.108157087A>CCA413848114COL4A6c.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)
Xg.108157087A>GCA518100735COL4A6c.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=)
Xg.108157087A>TCA413848115COL4A6c.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)
Xg.108157088A=CA2450541952COL4A6c.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=)
Xg.108157088A>CCA413848117COL4A6c.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)
Xg.108157088A>GCA413848119COL4A6c.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
Xg.108157088A>TCA413848120COL4A6c.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)
Xg.108157089A>CCA413848123COL4A6c.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)
Xg.108157089A>GCA413848124COL4A6c.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)
Xg.108157089A>TCA413848126COL4A6c.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)
Xg.108157090C>ACA413848129COL4A6c.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)
Xg.108157090C>GCA413848127COL4A6c.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)
Xg.108157090C>TCA518100740COL4A6c.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=)
Xg.108157091T>ACA413848131COL4A6c.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)
Xg.108157091T>CCA413848134COL4A6c.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)
Xg.108157091T>GCA413848132COL4A6c.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)
Xg.108157092G>ACA413848137COL4A6c.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)
Xg.108157092G>CCA413848138COL4A6c.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)
Xg.108157092G=CA2450541953COL4A6c.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=)
Xg.108157092G>TCA334033925COL4A6c.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
Xg.108157093C>ACA413848141COL4A6c.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)
Xg.108157093C>GCA413848143COL4A6c.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)
Xg.108157093C>TCA518100746COL4A6c.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=)
Xg.108157094T>ACA413848145COL4A6c.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)
Xg.108157094T>CCA413848147COL4A6c.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)
Xg.108157094T>GCA413848149COL4A6c.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)
Xg.108157095G>ACA413848150COL4A6c.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)
Xg.108157095G>CCA413848152COL4A6c.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)
Xg.108157095G>TCA413848154COL4A6c.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)
Xg.108157096C>ACA413848155COL4A6c.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)
Xg.108157096C=CA2450541954COL4A6c.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=)
Xg.108157096C>GCA413848157COL4A6c.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)
Xg.108157096C>TCA518100752COL4A6c.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
Xg.108157097C>ACA413848159COL4A6c.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)
Xg.108157097C>GCA413848163COL4A6c.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)
Xg.108157097C>TCA413848161COL4A6c.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)
Xg.108157098T>ACA413848165COL4A6c.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)
Xg.108157098T>CCA413848166COL4A6c.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
Xg.108157098T>GCA518100753COL4A6c.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=)
Xg.108157098_108157101delinsTCTCCA2450541955COL4A6c.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=)
Xg.108157099C>ACA413848169COL4A6c.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)
Xg.108157099C=CA2450541956COL4A6c.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=)
Xg.108157099C>GCA413848170COL4A6c.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)
Xg.108157099C>TCA10487081COL4A6c.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
Xg.108157103_108157105delCA518100754COL4A6c.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
Xg.108157100T>ACA413848173COL4A6c.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)
Xg.108157100T>CCA413848175COL4A6c.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)
Xg.108157100T>GCA413848177COL4A6c.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)
Xg.108157101C>ACA413848179COL4A6c.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
Xg.108157101C>GCA413848181COL4A6c.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)
Xg.108157101C>TCA413848183COL4A6c.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
Xg.108157102C>ACA413848184COL4A6c.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)
Xg.108157102C>GCA413848186COL4A6c.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)
Xg.108157102C>TCA518100757COL4A6c.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=)
Xg.108157103T>ACA413848188COL4A6c.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)
Xg.108157103T>CCA413848190COL4A6c.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)
Xg.108157103T>GCA413848191COL4A6c.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)
Xg.108157104C>ACA413848194COL4A6c.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
Xg.108157104C=CA2450541957COL4A6c.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=)
Xg.108157104C>GCA413848195COL4A6c.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)
Xg.108157104C>TCA413848197COL4A6c.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
Xg.108157105C>ACA518100761COL4A6c.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=)
Xg.108157105C>GCA518100762COL4A6c.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=)
Xg.108157105C>TCA518100764COL4A6c.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=)
Xg.108157106A>CCA413848199COL4A6c.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)
Xg.108157106A>GCA413848201COL4A6c.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)
Xg.108157106A>TCA413848203COL4A6c.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)
Xg.108157107C>ACA413848205COL4A6c.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)
Xg.108157107C>GCA413848207COL4A6c.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)
Xg.108157107C>TCA413848209COL4A6c.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)
Xg.108157108T>ACA518100767COL4A6c.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=)
Xg.108157108T>CCA518100768COL4A6c.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=)
Xg.108157108T>GCA518100769COL4A6c.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=)
Xg.108157109G>ACA413848212COL4A6c.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)
Xg.108157109G>CCA413848214COL4A6c.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)
Xg.108157109G>TCA413848211COL4A6c.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)
Xg.108157110T>ACA413848216COL4A6c.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)
Xg.108157110T>CCA413848218COL4A6c.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
Xg.108157110T>GCA413848219COL4A6c.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)
Xg.108157111G>ACA518100771COL4A6c.4962C>T (p.Thr1654=)
c.4965C>T (p.Thr1655=)
c.5013C>T (p.Thr1671=)
c.4791C>T (p.Thr1597=)
c.4926C>T (p.Thr1642=)
c.4890C>T (p.Thr1630=)
c.5016C>T (p.Thr1672=)
c.4944C>T (p.Thr1648=)
c.4932C>T (p.Thr1644=)
 gnomAD v4
Xg.108157111G>CCA518100772COL4A6c.4962C>G (p.Thr1654=)
c.4965C>G (p.Thr1655=)
c.5013C>G (p.Thr1671=)
c.4791C>G (p.Thr1597=)
c.4926C>G (p.Thr1642=)
c.4890C>G (p.Thr1630=)
c.5016C>G (p.Thr1672=)
c.4944C>G (p.Thr1648=)
c.4932C>G (p.Thr1644=)
Xg.108157111G>TCA518100773COL4A6c.4962C>A (p.Thr1654=)
c.4965C>A (p.Thr1655=)
c.5013C>A (p.Thr1671=)
c.4791C>A (p.Thr1597=)
c.4926C>A (p.Thr1642=)
c.4890C>A (p.Thr1630=)
c.5016C>A (p.Thr1672=)
c.4944C>A (p.Thr1648=)
c.4932C>A (p.Thr1644=)
 gnomAD v4
Xg.108157112G>ACA413848222COL4A6c.4961C>T (p.Thr1654Ile)
c.4964C>T (p.Thr1655Ile)
c.5012C>T (p.Thr1671Ile)
c.4790C>T (p.Thr1597Ile)
c.4925C>T (p.Thr1642Ile)
c.4889C>T (p.Thr1630Ile)
c.5015C>T (p.Thr1672Ile)
c.4943C>T (p.Thr1648Ile)
c.4931C>T (p.Thr1644Ile)
 gnomAD v4
Xg.108157112G>CCA413848223COL4A6c.4961C>G (p.Thr1654Ser)
c.4964C>G (p.Thr1655Ser)
c.5012C>G (p.Thr1671Ser)
c.4790C>G (p.Thr1597Ser)
c.4925C>G (p.Thr1642Ser)
c.4889C>G (p.Thr1630Ser)
c.5015C>G (p.Thr1672Ser)
c.4943C>G (p.Thr1648Ser)
c.4931C>G (p.Thr1644Ser)
Xg.108157112G>TCA413848224COL4A6c.4961C>A (p.Thr1654Asn)
c.4964C>A (p.Thr1655Asn)
c.5012C>A (p.Thr1671Asn)
c.4790C>A (p.Thr1597Asn)
c.4925C>A (p.Thr1642Asn)
c.4889C>A (p.Thr1630Asn)
c.5015C>A (p.Thr1672Asn)
c.4943C>A (p.Thr1648Asn)
c.4931C>A (p.Thr1644Asn)
 gnomAD v4

Number of alleles fetched