Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.46411841G>ACA10080086PCNTn.113G>A
c.5801G>A (p.Arg1934Gln)
c.*5011G>A (n.*5011G>A)
c.5768G>A (p.Arg1923Gln)
n.6037G>A
c.5414G>A (p.Arg1805Gln)
c.5879G>A (p.Arg1960Gln)
c.5849G>A (p.Arg1950Gln)
c.5447G>A (p.Arg1816Gln)
c.4685G>A (p.Arg1562Gln)
c.3581G>A (p.Arg1194Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411841G>CCA410556676PCNTn.113G>C
c.5801G>C (p.Arg1934Pro)
c.*5011G>C (n.*5011G>C)
c.5768G>C (p.Arg1923Pro)
n.6037G>C
c.5414G>C (p.Arg1805Pro)
c.5879G>C (p.Arg1960Pro)
c.5849G>C (p.Arg1950Pro)
c.5447G>C (p.Arg1816Pro)
c.4685G>C (p.Arg1562Pro)
c.3581G>C (p.Arg1194Pro)
21g.46411841G=CA2392665086PCNTn.113G=
c.5801G= (p.Arg1934=)
c.*5011G= (n.*5011G=)
c.5768G= (p.Arg1923=)
n.6037G=
c.5414G= (p.Arg1805=)
c.5879G= (p.Arg1960=)
c.5849G= (p.Arg1950=)
c.5447G= (p.Arg1816=)
c.4685G= (p.Arg1562=)
c.3581G= (p.Arg1194=)
21g.46411841G>TCA321998169PCNTn.113G>T
c.5801G>T (p.Arg1934Leu)
c.*5011G>T (n.*5011G>T)
c.5768G>T (p.Arg1923Leu)
n.6037G>T
c.5414G>T (p.Arg1805Leu)
c.5879G>T (p.Arg1960Leu)
c.5849G>T (p.Arg1950Leu)
c.5447G>T (p.Arg1816Leu)
c.4685G>T (p.Arg1562Leu)
c.3581G>T (p.Arg1194Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46411842A>CCA513174041PCNTn.114A>C
c.5802A>C (p.Arg1934=)
c.*5012A>C (n.*5012A>C)
c.5769A>C (p.Arg1923=)
n.6038A>C
c.5415A>C (p.Arg1805=)
c.5880A>C (p.Arg1960=)
c.5850A>C (p.Arg1950=)
c.5448A>C (p.Arg1816=)
c.4686A>C (p.Arg1562=)
c.3582A>C (p.Arg1194=)
21g.46411842A>GCA513174042PCNTn.114A>G
c.5802A>G (p.Arg1934=)
c.*5012A>G (n.*5012A>G)
c.5769A>G (p.Arg1923=)
n.6038A>G
c.5415A>G (p.Arg1805=)
c.5880A>G (p.Arg1960=)
c.5850A>G (p.Arg1950=)
c.5448A>G (p.Arg1816=)
c.4686A>G (p.Arg1562=)
c.3582A>G (p.Arg1194=)
21g.46411842A>TCA513174044PCNTn.114A>T
c.5802A>T (p.Arg1934=)
c.*5012A>T (n.*5012A>T)
c.5769A>T (p.Arg1923=)
n.6038A>T
c.5415A>T (p.Arg1805=)
c.5880A>T (p.Arg1960=)
c.5850A>T (p.Arg1950=)
c.5448A>T (p.Arg1816=)
c.4686A>T (p.Arg1562=)
c.3582A>T (p.Arg1194=)
21g.46411843G>ACA410556683PCNTn.115G>A
c.5803G>A (p.Ala1935Thr)
c.*5013G>A (n.*5013G>A)
c.5770G>A (p.Ala1924Thr)
n.6039G>A
c.5416G>A (p.Ala1806Thr)
c.5881G>A (p.Ala1961Thr)
c.5851G>A (p.Ala1951Thr)
c.5449G>A (p.Ala1817Thr)
c.4687G>A (p.Ala1563Thr)
c.3583G>A (p.Ala1195Thr)
 dbSNP gnomAD v3 gnomAD v4
21g.46411843G>CCA410556687PCNTn.115G>C
c.5803G>C (p.Ala1935Pro)
c.*5013G>C (n.*5013G>C)
c.5770G>C (p.Ala1924Pro)
n.6039G>C
c.5416G>C (p.Ala1806Pro)
c.5881G>C (p.Ala1961Pro)
c.5851G>C (p.Ala1951Pro)
c.5449G>C (p.Ala1817Pro)
c.4687G>C (p.Ala1563Pro)
c.3583G>C (p.Ala1195Pro)
21g.46411843G=CA2392665087PCNTn.115G=
c.5803G= (p.Ala1935=)
c.*5013G= (n.*5013G=)
c.5770G= (p.Ala1924=)
n.6039G=
c.5416G= (p.Ala1806=)
c.5881G= (p.Ala1961=)
c.5851G= (p.Ala1951=)
c.5449G= (p.Ala1817=)
c.4687G= (p.Ala1563=)
c.3583G= (p.Ala1195=)
21g.46411843G>TCA410556698PCNTn.115G>T
c.5803G>T (p.Ala1935Ser)
c.*5013G>T (n.*5013G>T)
c.5770G>T (p.Ala1924Ser)
n.6039G>T
c.5416G>T (p.Ala1806Ser)
c.5881G>T (p.Ala1961Ser)
c.5851G>T (p.Ala1951Ser)
c.5449G>T (p.Ala1817Ser)
c.4687G>T (p.Ala1563Ser)
c.3583G>T (p.Ala1195Ser)
21g.46411844C>ACA410556710PCNTn.116C>A
c.5804C>A (p.Ala1935Glu)
c.*5014C>A (n.*5014C>A)
c.5771C>A (p.Ala1924Glu)
n.6040C>A
c.5417C>A (p.Ala1806Glu)
c.5882C>A (p.Ala1961Glu)
c.5852C>A (p.Ala1951Glu)
c.5450C>A (p.Ala1817Glu)
c.4688C>A (p.Ala1563Glu)
c.3584C>A (p.Ala1195Glu)
 gnomAD v4
21g.46411844C=CA2392665088PCNTn.116C=
c.5804C= (p.Ala1935=)
c.*5014C= (n.*5014C=)
c.5771C= (p.Ala1924=)
n.6040C=
c.5417C= (p.Ala1806=)
c.5882C= (p.Ala1961=)
c.5852C= (p.Ala1951=)
c.5450C= (p.Ala1817=)
c.4688C= (p.Ala1563=)
c.3584C= (p.Ala1195=)
21g.46411844C>GCA410556712PCNTn.116C>G
c.5804C>G (p.Ala1935Gly)
c.*5014C>G (n.*5014C>G)
c.5771C>G (p.Ala1924Gly)
n.6040C>G
c.5417C>G (p.Ala1806Gly)
c.5882C>G (p.Ala1961Gly)
c.5852C>G (p.Ala1951Gly)
c.5450C>G (p.Ala1817Gly)
c.4688C>G (p.Ala1563Gly)
c.3584C>G (p.Ala1195Gly)
 gnomAD v4
21g.46411844C>TCA148447PCNTn.116C>T
c.5804C>T (p.Ala1935Val)
c.*5014C>T (n.*5014C>T)
c.5771C>T (p.Ala1924Val)
n.6040C>T
c.5417C>T (p.Ala1806Val)
c.5882C>T (p.Ala1961Val)
c.5852C>T (p.Ala1951Val)
c.5450C>T (p.Ala1817Val)
c.4688C>T (p.Ala1563Val)
c.3584C>T (p.Ala1195Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411845G>ACA10080087PCNTn.117G>A
c.5805G>A (p.Ala1935=)
c.*5015G>A (n.*5015G>A)
c.5772G>A (p.Ala1924=)
n.6041G>A
c.5418G>A (p.Ala1806=)
c.5883G>A (p.Ala1961=)
c.5853G>A (p.Ala1951=)
c.5451G>A (p.Ala1817=)
c.4689G>A (p.Ala1563=)
c.3585G>A (p.Ala1195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411845G>CCA513174047PCNTn.117G>C
c.5805G>C (p.Ala1935=)
c.*5015G>C (n.*5015G>C)
c.5772G>C (p.Ala1924=)
n.6041G>C
c.5418G>C (p.Ala1806=)
c.5883G>C (p.Ala1961=)
c.5853G>C (p.Ala1951=)
c.5451G>C (p.Ala1817=)
c.4689G>C (p.Ala1563=)
c.3585G>C (p.Ala1195=)
21g.46411845G=CA2392665089PCNTn.117G=
c.5805G= (p.Ala1935=)
c.*5015G= (n.*5015G=)
c.5772G= (p.Ala1924=)
n.6041G=
c.5418G= (p.Ala1806=)
c.5883G= (p.Ala1961=)
c.5853G= (p.Ala1951=)
c.5451G= (p.Ala1817=)
c.4689G= (p.Ala1563=)
c.3585G= (p.Ala1195=)
21g.46411845G>TCA513174048PCNTn.117G>T
c.5805G>T (p.Ala1935=)
c.*5015G>T (n.*5015G>T)
c.5772G>T (p.Ala1924=)
n.6041G>T
c.5418G>T (p.Ala1806=)
c.5883G>T (p.Ala1961=)
c.5853G>T (p.Ala1951=)
c.5451G>T (p.Ala1817=)
c.4689G>T (p.Ala1563=)
c.3585G>T (p.Ala1195=)
 ClinVar gnomAD v4
21g.46411846C>ACA410556717PCNTn.118C>A
c.5806C>A (p.Gln1936Lys)
c.*5016C>A (n.*5016C>A)
c.5773C>A (p.Gln1925Lys)
n.6042C>A
c.5419C>A (p.Gln1807Lys)
c.5884C>A (p.Gln1962Lys)
c.5854C>A (p.Gln1952Lys)
c.5452C>A (p.Gln1818Lys)
c.4690C>A (p.Gln1564Lys)
c.3586C>A (p.Gln1196Lys)
 gnomAD v4
21g.46411846C=CA2392665090PCNTn.118C=
c.5806C= (p.Gln1936=)
c.*5016C= (n.*5016C=)
c.5773C= (p.Gln1925=)
n.6042C=
c.5419C= (p.Gln1807=)
c.5884C= (p.Gln1962=)
c.5854C= (p.Gln1952=)
c.5452C= (p.Gln1818=)
c.4690C= (p.Gln1564=)
c.3586C= (p.Gln1196=)
21g.46411846C>GCA410556720PCNTn.118C>G
c.5806C>G (p.Gln1936Glu)
c.*5016C>G (n.*5016C>G)
c.5773C>G (p.Gln1925Glu)
n.6042C>G
c.5419C>G (p.Gln1807Glu)
c.5884C>G (p.Gln1962Glu)
c.5854C>G (p.Gln1952Glu)
c.5452C>G (p.Gln1818Glu)
c.4690C>G (p.Gln1564Glu)
c.3586C>G (p.Gln1196Glu)
 dbSNP gnomAD v2 gnomAD v4
21g.46411846C>TCA410556727PCNTn.118C>T
c.5806C>T (p.Gln1936Ter)
c.*5016C>T (n.*5016C>T)
c.5773C>T (p.Gln1925Ter)
n.6042C>T
c.5419C>T (p.Gln1807Ter)
c.5884C>T (p.Gln1962Ter)
c.5854C>T (p.Gln1952Ter)
c.5452C>T (p.Gln1818Ter)
c.4690C>T (p.Gln1564Ter)
c.3586C>T (p.Gln1196Ter)
 dbSNP gnomAD v3 gnomAD v4
21g.46411847A=CA2392665091PCNTn.119A=
c.5807A= (p.Gln1936=)
c.*5017A= (n.*5017A=)
c.5774A= (p.Gln1925=)
n.6043A=
c.5420A= (p.Gln1807=)
c.5885A= (p.Gln1962=)
c.5855A= (p.Gln1952=)
c.5453A= (p.Gln1818=)
c.4691A= (p.Gln1564=)
c.3587A= (p.Gln1196=)
21g.46411847A>CCA251090PCNTn.119A>C
c.5807A>C (p.Gln1936Pro)
c.*5017A>C (n.*5017A>C)
c.5774A>C (p.Gln1925Pro)
n.6043A>C
c.5420A>C (p.Gln1807Pro)
c.5885A>C (p.Gln1962Pro)
c.5855A>C (p.Gln1952Pro)
c.5453A>C (p.Gln1818Pro)
c.4691A>C (p.Gln1564Pro)
c.3587A>C (p.Gln1196Pro)
 ClinVar dbSNP
21g.46411847A>GCA410556735PCNTn.119A>G
c.5807A>G (p.Gln1936Arg)
c.*5017A>G (n.*5017A>G)
c.5774A>G (p.Gln1925Arg)
n.6043A>G
c.5420A>G (p.Gln1807Arg)
c.5885A>G (p.Gln1962Arg)
c.5855A>G (p.Gln1952Arg)
c.5453A>G (p.Gln1818Arg)
c.4691A>G (p.Gln1564Arg)
c.3587A>G (p.Gln1196Arg)
21g.46411847A>TCA410556739PCNTn.119A>T
c.5807A>T (p.Gln1936Leu)
c.*5017A>T (n.*5017A>T)
c.5774A>T (p.Gln1925Leu)
n.6043A>T
c.5420A>T (p.Gln1807Leu)
c.5885A>T (p.Gln1962Leu)
c.5855A>T (p.Gln1952Leu)
c.5453A>T (p.Gln1818Leu)
c.4691A>T (p.Gln1564Leu)
c.3587A>T (p.Gln1196Leu)
 gnomAD v4
21g.46411848G>ACA321998176PCNTn.120G>A
c.5808G>A (p.Gln1936=)
c.*5018G>A (n.*5018G>A)
c.5775G>A (p.Gln1925=)
n.6044G>A
c.5421G>A (p.Gln1807=)
c.5886G>A (p.Gln1962=)
c.5856G>A (p.Gln1952=)
c.5454G>A (p.Gln1818=)
c.4692G>A (p.Gln1564=)
c.3588G>A (p.Gln1196=)
 dbSNP gnomAD v2 gnomAD v4
21g.46411848G>CCA410556743PCNTn.120G>C
c.5808G>C (p.Gln1936His)
c.*5018G>C (n.*5018G>C)
c.5775G>C (p.Gln1925His)
n.6044G>C
c.5421G>C (p.Gln1807His)
c.5886G>C (p.Gln1962His)
c.5856G>C (p.Gln1952His)
c.5454G>C (p.Gln1818His)
c.4692G>C (p.Gln1564His)
c.3588G>C (p.Gln1196His)
 gnomAD v4
21g.46411848G=CA2392665092PCNTn.120G=
c.5808G= (p.Gln1936=)
c.*5018G= (n.*5018G=)
c.5775G= (p.Gln1925=)
n.6044G=
c.5421G= (p.Gln1807=)
c.5886G= (p.Gln1962=)
c.5856G= (p.Gln1952=)
c.5454G= (p.Gln1818=)
c.4692G= (p.Gln1564=)
c.3588G= (p.Gln1196=)
21g.46411848G>TCA410556746PCNTn.120G>T
c.5808G>T (p.Gln1936His)
c.*5018G>T (n.*5018G>T)
c.5775G>T (p.Gln1925His)
n.6044G>T
c.5421G>T (p.Gln1807His)
c.5886G>T (p.Gln1962His)
c.5856G>T (p.Gln1952His)
c.5454G>T (p.Gln1818His)
c.4692G>T (p.Gln1564His)
c.3588G>T (p.Gln1196His)
21g.46411849T>ACA410556756PCNTn.121T>A
c.5809T>A (p.Cys1937Ser)
c.*5019T>A (n.*5019T>A)
c.5776T>A (p.Cys1926Ser)
n.6045T>A
c.5422T>A (p.Cys1808Ser)
c.5887T>A (p.Cys1963Ser)
c.5857T>A (p.Cys1953Ser)
c.5455T>A (p.Cys1819Ser)
c.4693T>A (p.Cys1565Ser)
c.3589T>A (p.Cys1197Ser)
21g.46411849T>CCA410556750PCNTn.121T>C
c.5809T>C (p.Cys1937Arg)
c.*5019T>C (n.*5019T>C)
c.5776T>C (p.Cys1926Arg)
n.6045T>C
c.5422T>C (p.Cys1808Arg)
c.5887T>C (p.Cys1963Arg)
c.5857T>C (p.Cys1953Arg)
c.5455T>C (p.Cys1819Arg)
c.4693T>C (p.Cys1565Arg)
c.3589T>C (p.Cys1197Arg)
 dbSNP gnomAD v3 gnomAD v4
21g.46411849T>GCA410556749PCNTn.121T>G
c.5809T>G (p.Cys1937Gly)
c.*5019T>G (n.*5019T>G)
c.5776T>G (p.Cys1926Gly)
n.6045T>G
c.5422T>G (p.Cys1808Gly)
c.5887T>G (p.Cys1963Gly)
c.5857T>G (p.Cys1953Gly)
c.5455T>G (p.Cys1819Gly)
c.4693T>G (p.Cys1565Gly)
c.3589T>G (p.Cys1197Gly)
21g.46411849T=CA2392665093PCNTn.121T=
c.5809T= (p.Cys1937=)
c.*5019T= (n.*5019T=)
c.5776T= (p.Cys1926=)
n.6045T=
c.5422T= (p.Cys1808=)
c.5887T= (p.Cys1963=)
c.5857T= (p.Cys1953=)
c.5455T= (p.Cys1819=)
c.4693T= (p.Cys1565=)
c.3589T= (p.Cys1197=)
21g.46411850G>ACA410556761PCNTn.122G>A
c.5810G>A (p.Cys1937Tyr)
c.*5020G>A (n.*5020G>A)
c.5777G>A (p.Cys1926Tyr)
n.6046G>A
c.5423G>A (p.Cys1808Tyr)
c.5888G>A (p.Cys1963Tyr)
c.5858G>A (p.Cys1953Tyr)
c.5456G>A (p.Cys1819Tyr)
c.4694G>A (p.Cys1565Tyr)
c.3590G>A (p.Cys1197Tyr)
 gnomAD v4
21g.46411850G>CCA410556764PCNTn.122G>C
c.5810G>C (p.Cys1937Ser)
c.*5020G>C (n.*5020G>C)
c.5777G>C (p.Cys1926Ser)
n.6046G>C
c.5423G>C (p.Cys1808Ser)
c.5888G>C (p.Cys1963Ser)
c.5858G>C (p.Cys1953Ser)
c.5456G>C (p.Cys1819Ser)
c.4694G>C (p.Cys1565Ser)
c.3590G>C (p.Cys1197Ser)
21g.46411850G>TCA410556769PCNTn.122G>T
c.5810G>T (p.Cys1937Phe)
c.*5020G>T (n.*5020G>T)
c.5777G>T (p.Cys1926Phe)
n.6046G>T
c.5423G>T (p.Cys1808Phe)
c.5888G>T (p.Cys1963Phe)
c.5858G>T (p.Cys1953Phe)
c.5456G>T (p.Cys1819Phe)
c.4694G>T (p.Cys1565Phe)
c.3590G>T (p.Cys1197Phe)
21g.46411851T>ACA410556772PCNTn.123T>A
c.5811T>A (p.Cys1937Ter)
c.*5021T>A (n.*5021T>A)
c.5778T>A (p.Cys1926Ter)
n.6047T>A
c.5424T>A (p.Cys1808Ter)
c.5889T>A (p.Cys1963Ter)
c.5859T>A (p.Cys1953Ter)
c.5457T>A (p.Cys1819Ter)
c.4695T>A (p.Cys1565Ter)
c.3591T>A (p.Cys1197Ter)
21g.46411851T>CCA513174053PCNTn.123T>C
c.5811T>C (p.Cys1937=)
c.*5021T>C (n.*5021T>C)
c.5778T>C (p.Cys1926=)
n.6047T>C
c.5424T>C (p.Cys1808=)
c.5889T>C (p.Cys1963=)
c.5859T>C (p.Cys1953=)
c.5457T>C (p.Cys1819=)
c.4695T>C (p.Cys1565=)
c.3591T>C (p.Cys1197=)
21g.46411851T>GCA410556777PCNTn.123T>G
c.5811T>G (p.Cys1937Trp)
c.*5021T>G (n.*5021T>G)
c.5778T>G (p.Cys1926Trp)
n.6047T>G
c.5424T>G (p.Cys1808Trp)
c.5889T>G (p.Cys1963Trp)
c.5859T>G (p.Cys1953Trp)
c.5457T>G (p.Cys1819Trp)
c.4695T>G (p.Cys1565Trp)
c.3591T>G (p.Cys1197Trp)
21g.46411852G>ACA410556789PCNTn.124G>A
c.5812G>A (p.Ala1938Thr)
c.*5022G>A (n.*5022G>A)
c.5779G>A (p.Ala1927Thr)
n.6048G>A
c.5425G>A (p.Ala1809Thr)
c.5890G>A (p.Ala1964Thr)
c.5860G>A (p.Ala1954Thr)
c.5458G>A (p.Ala1820Thr)
c.4696G>A (p.Ala1566Thr)
c.3592G>A (p.Ala1198Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46411852G>CCA410556786PCNTn.124G>C
c.5812G>C (p.Ala1938Pro)
c.*5022G>C (n.*5022G>C)
c.5779G>C (p.Ala1927Pro)
n.6048G>C
c.5425G>C (p.Ala1809Pro)
c.5890G>C (p.Ala1964Pro)
c.5860G>C (p.Ala1954Pro)
c.5458G>C (p.Ala1820Pro)
c.4696G>C (p.Ala1566Pro)
c.3592G>C (p.Ala1198Pro)
21g.46411852G=CA2392665094PCNTn.124G=
c.5812G= (p.Ala1938=)
c.*5022G= (n.*5022G=)
c.5779G= (p.Ala1927=)
n.6048G=
c.5425G= (p.Ala1809=)
c.5890G= (p.Ala1964=)
c.5860G= (p.Ala1954=)
c.5458G= (p.Ala1820=)
c.4696G= (p.Ala1566=)
c.3592G= (p.Ala1198=)
21g.46411852G>TCA410556784PCNTn.124G>T
c.5812G>T (p.Ala1938Ser)
c.*5022G>T (n.*5022G>T)
c.5779G>T (p.Ala1927Ser)
n.6048G>T
c.5425G>T (p.Ala1809Ser)
c.5890G>T (p.Ala1964Ser)
c.5860G>T (p.Ala1954Ser)
c.5458G>T (p.Ala1820Ser)
c.4696G>T (p.Ala1566Ser)
c.3592G>T (p.Ala1198Ser)
21g.46411853C>ACA410556794PCNTn.125C>A
c.5813C>A (p.Ala1938Asp)
c.*5023C>A (n.*5023C>A)
c.5780C>A (p.Ala1927Asp)
n.6049C>A
c.5426C>A (p.Ala1809Asp)
c.5891C>A (p.Ala1964Asp)
c.5861C>A (p.Ala1954Asp)
c.5459C>A (p.Ala1820Asp)
c.4697C>A (p.Ala1566Asp)
c.3593C>A (p.Ala1198Asp)
 gnomAD v4
21g.46411853C>GCA410556795PCNTn.125C>G
c.5813C>G (p.Ala1938Gly)
c.*5023C>G (n.*5023C>G)
c.5780C>G (p.Ala1927Gly)
n.6049C>G
c.5426C>G (p.Ala1809Gly)
c.5891C>G (p.Ala1964Gly)
c.5861C>G (p.Ala1954Gly)
c.5459C>G (p.Ala1820Gly)
c.4697C>G (p.Ala1566Gly)
c.3593C>G (p.Ala1198Gly)
21g.46411853C>TCA410556796PCNTn.125C>T
c.5813C>T (p.Ala1938Val)
c.*5023C>T (n.*5023C>T)
c.5780C>T (p.Ala1927Val)
n.6049C>T
c.5426C>T (p.Ala1809Val)
c.5891C>T (p.Ala1964Val)
c.5861C>T (p.Ala1954Val)
c.5459C>T (p.Ala1820Val)
c.4697C>T (p.Ala1566Val)
c.3593C>T (p.Ala1198Val)
 gnomAD v4
21g.46411854C>ACA513174054PCNTn.126C>A
c.5814C>A (p.Ala1938=)
c.*5024C>A (n.*5024C>A)
c.5781C>A (p.Ala1927=)
n.6050C>A
c.5427C>A (p.Ala1809=)
c.5892C>A (p.Ala1964=)
c.5862C>A (p.Ala1954=)
c.5460C>A (p.Ala1820=)
c.4698C>A (p.Ala1566=)
c.3594C>A (p.Ala1198=)
 gnomAD v4
21g.46411854C>GCA513174055PCNTn.126C>G
c.5814C>G (p.Ala1938=)
c.*5024C>G (n.*5024C>G)
c.5781C>G (p.Ala1927=)
n.6050C>G
c.5427C>G (p.Ala1809=)
c.5892C>G (p.Ala1964=)
c.5862C>G (p.Ala1954=)
c.5460C>G (p.Ala1820=)
c.4698C>G (p.Ala1566=)
c.3594C>G (p.Ala1198=)
21g.46411854C>TCA513174056PCNTn.126C>T
c.5814C>T (p.Ala1938=)
c.*5024C>T (n.*5024C>T)
c.5781C>T (p.Ala1927=)
n.6050C>T
c.5427C>T (p.Ala1809=)
c.5892C>T (p.Ala1964=)
c.5862C>T (p.Ala1954=)
c.5460C>T (p.Ala1820=)
c.4698C>T (p.Ala1566=)
c.3594C>T (p.Ala1198=)
 gnomAD v4
21g.46411855C>ACA410556799PCNTn.127C>A
c.5815C>A (p.Arg1939Ser)
c.*5025C>A (n.*5025C>A)
c.5782C>A (p.Arg1928Ser)
n.6051C>A
c.5428C>A (p.Arg1810Ser)
c.5893C>A (p.Arg1965Ser)
c.5863C>A (p.Arg1955Ser)
c.5461C>A (p.Arg1821Ser)
c.4699C>A (p.Arg1567Ser)
c.3595C>A (p.Arg1199Ser)
 dbSNP gnomAD v4
21g.46411855C=CA2392665095PCNTn.127C=
c.5815C= (p.Arg1939=)
c.*5025C= (n.*5025C=)
c.5782C= (p.Arg1928=)
n.6051C=
c.5428C= (p.Arg1810=)
c.5893C= (p.Arg1965=)
c.5863C= (p.Arg1955=)
c.5461C= (p.Arg1821=)
c.4699C= (p.Arg1567=)
c.3595C= (p.Arg1199=)
21g.46411855C>GCA410556802PCNTn.127C>G
c.5815C>G (p.Arg1939Gly)
c.*5025C>G (n.*5025C>G)
c.5782C>G (p.Arg1928Gly)
n.6051C>G
c.5428C>G (p.Arg1810Gly)
c.5893C>G (p.Arg1965Gly)
c.5863C>G (p.Arg1955Gly)
c.5461C>G (p.Arg1821Gly)
c.4699C>G (p.Arg1567Gly)
c.3595C>G (p.Arg1199Gly)
 gnomAD v4
21g.46411855C>TCA10080088PCNTn.127C>T
c.5815C>T (p.Arg1939Cys)
c.*5025C>T (n.*5025C>T)
c.5782C>T (p.Arg1928Cys)
n.6051C>T
c.5428C>T (p.Arg1810Cys)
c.5893C>T (p.Arg1965Cys)
c.5863C>T (p.Arg1955Cys)
c.5461C>T (p.Arg1821Cys)
c.4699C>T (p.Arg1567Cys)
c.3595C>T (p.Arg1199Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46411856G>ACA10080089PCNTn.128G>A
c.5816G>A (p.Arg1939His)
c.*5026G>A (n.*5026G>A)
c.5783G>A (p.Arg1928His)
n.6052G>A
c.5429G>A (p.Arg1810His)
c.5894G>A (p.Arg1965His)
c.5864G>A (p.Arg1955His)
c.5462G>A (p.Arg1821His)
c.4700G>A (p.Arg1567His)
c.3596G>A (p.Arg1199His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411856G>CCA410556814PCNTn.128G>C
c.5816G>C (p.Arg1939Pro)
c.*5026G>C (n.*5026G>C)
c.5783G>C (p.Arg1928Pro)
n.6052G>C
c.5429G>C (p.Arg1810Pro)
c.5894G>C (p.Arg1965Pro)
c.5864G>C (p.Arg1955Pro)
c.5462G>C (p.Arg1821Pro)
c.4700G>C (p.Arg1567Pro)
c.3596G>C (p.Arg1199Pro)
21g.46411856G=CA2392665096PCNTn.128G=
c.5816G= (p.Arg1939=)
c.*5026G= (n.*5026G=)
c.5783G= (p.Arg1928=)
n.6052G=
c.5429G= (p.Arg1810=)
c.5894G= (p.Arg1965=)
c.5864G= (p.Arg1955=)
c.5462G= (p.Arg1821=)
c.4700G= (p.Arg1567=)
c.3596G= (p.Arg1199=)
21g.46411856G>TCA410556811PCNTn.128G>T
c.5816G>T (p.Arg1939Leu)
c.*5026G>T (n.*5026G>T)
c.5783G>T (p.Arg1928Leu)
n.6052G>T
c.5429G>T (p.Arg1810Leu)
c.5894G>T (p.Arg1965Leu)
c.5864G>T (p.Arg1955Leu)
c.5462G>T (p.Arg1821Leu)
c.4700G>T (p.Arg1567Leu)
c.3596G>T (p.Arg1199Leu)
21g.46411857C>ACA513174058PCNTn.129C>A
c.5817C>A (p.Arg1939=)
c.*5027C>A (n.*5027C>A)
c.5784C>A (p.Arg1928=)
n.6053C>A
c.5430C>A (p.Arg1810=)
c.5895C>A (p.Arg1965=)
c.5865C>A (p.Arg1955=)
c.5463C>A (p.Arg1821=)
c.4701C>A (p.Arg1567=)
c.3597C>A (p.Arg1199=)
 gnomAD v4
21g.46411857C>GCA513174059PCNTn.129C>G
c.5817C>G (p.Arg1939=)
c.*5027C>G (n.*5027C>G)
c.5784C>G (p.Arg1928=)
n.6053C>G
c.5430C>G (p.Arg1810=)
c.5895C>G (p.Arg1965=)
c.5865C>G (p.Arg1955=)
c.5463C>G (p.Arg1821=)
c.4701C>G (p.Arg1567=)
c.3597C>G (p.Arg1199=)
 gnomAD v4
21g.46411857C>TCA513174060PCNTn.129C>T
c.5817C>T (p.Arg1939=)
c.*5027C>T (n.*5027C>T)
c.5784C>T (p.Arg1928=)
n.6053C>T
c.5430C>T (p.Arg1810=)
c.5895C>T (p.Arg1965=)
c.5865C>T (p.Arg1955=)
c.5463C>T (p.Arg1821=)
c.4701C>T (p.Arg1567=)
c.3597C>T (p.Arg1199=)
21g.46411858C>ACA410556818PCNTn.130C>A
c.5818C>A (p.Leu1940Ile)
c.*5028C>A (n.*5028C>A)
c.5785C>A (p.Leu1929Ile)
n.6054C>A
c.5431C>A (p.Leu1811Ile)
c.5896C>A (p.Leu1966Ile)
c.5866C>A (p.Leu1956Ile)
c.5464C>A (p.Leu1822Ile)
c.4702C>A (p.Leu1568Ile)
c.3598C>A (p.Leu1200Ile)
 gnomAD v4
21g.46411858C>GCA410556822PCNTn.130C>G
c.5818C>G (p.Leu1940Val)
c.*5028C>G (n.*5028C>G)
c.5785C>G (p.Leu1929Val)
n.6054C>G
c.5431C>G (p.Leu1811Val)
c.5896C>G (p.Leu1966Val)
c.5866C>G (p.Leu1956Val)
c.5464C>G (p.Leu1822Val)
c.4702C>G (p.Leu1568Val)
c.3598C>G (p.Leu1200Val)
21g.46411858C>TCA410556824PCNTn.130C>T
c.5818C>T (p.Leu1940Phe)
c.*5028C>T (n.*5028C>T)
c.5785C>T (p.Leu1929Phe)
n.6054C>T
c.5431C>T (p.Leu1811Phe)
c.5896C>T (p.Leu1966Phe)
c.5866C>T (p.Leu1956Phe)
c.5464C>T (p.Leu1822Phe)
c.4702C>T (p.Leu1568Phe)
c.3598C>T (p.Leu1200Phe)
 gnomAD v4
21g.46411859T>ACA410556830PCNTn.131T>A
c.5819T>A (p.Leu1940His)
c.*5029T>A (n.*5029T>A)
c.5786T>A (p.Leu1929His)
n.6055T>A
c.5432T>A (p.Leu1811His)
c.5897T>A (p.Leu1966His)
c.5867T>A (p.Leu1956His)
c.5465T>A (p.Leu1822His)
c.4703T>A (p.Leu1568His)
c.3599T>A (p.Leu1200His)
21g.46411859T>CCA410556831PCNTn.131T>C
c.5819T>C (p.Leu1940Pro)
c.*5029T>C (n.*5029T>C)
c.5786T>C (p.Leu1929Pro)
n.6055T>C
c.5432T>C (p.Leu1811Pro)
c.5897T>C (p.Leu1966Pro)
c.5867T>C (p.Leu1956Pro)
c.5465T>C (p.Leu1822Pro)
c.4703T>C (p.Leu1568Pro)
c.3599T>C (p.Leu1200Pro)
21g.46411859T>GCA410556834PCNTn.131T>G
c.5819T>G (p.Leu1940Arg)
c.*5029T>G (n.*5029T>G)
c.5786T>G (p.Leu1929Arg)
n.6055T>G
c.5432T>G (p.Leu1811Arg)
c.5897T>G (p.Leu1966Arg)
c.5867T>G (p.Leu1956Arg)
c.5465T>G (p.Leu1822Arg)
c.4703T>G (p.Leu1568Arg)
c.3599T>G (p.Leu1200Arg)
21g.46411860C>ACA513174061PCNTn.132C>A
c.5820C>A (p.Leu1940=)
c.*5030C>A (n.*5030C>A)
c.5787C>A (p.Leu1929=)
n.6056C>A
c.5433C>A (p.Leu1811=)
c.5898C>A (p.Leu1966=)
c.5868C>A (p.Leu1956=)
c.5466C>A (p.Leu1822=)
c.4704C>A (p.Leu1568=)
c.3600C>A (p.Leu1200=)
 gnomAD v4
21g.46411860C>GCA513174062PCNTn.132C>G
c.5820C>G (p.Leu1940=)
c.*5030C>G (n.*5030C>G)
c.5787C>G (p.Leu1929=)
n.6056C>G
c.5433C>G (p.Leu1811=)
c.5898C>G (p.Leu1966=)
c.5868C>G (p.Leu1956=)
c.5466C>G (p.Leu1822=)
c.4704C>G (p.Leu1568=)
c.3600C>G (p.Leu1200=)
21g.46411860C>TCA513174063PCNTn.132C>T
c.5820C>T (p.Leu1940=)
c.*5030C>T (n.*5030C>T)
c.5787C>T (p.Leu1929=)
n.6056C>T
c.5433C>T (p.Leu1811=)
c.5898C>T (p.Leu1966=)
c.5868C>T (p.Leu1956=)
c.5466C>T (p.Leu1822=)
c.4704C>T (p.Leu1568=)
c.3600C>T (p.Leu1200=)
 ClinVar gnomAD v4
21g.46411864_46411870delCA2697547607PCNTn.136_142del
c.5824_5830del (p.Arg1942CysfsTer9)
c.*5034_*5040del (n.*5034_*5040del)
c.5791_5797del (p.Arg1931CysfsTer9)
n.6060_6066del
c.5437_5443del (p.Arg1813CysfsTer9)
c.5902_5908del (p.Arg1968CysfsTer9)
c.5872_5878del (p.Arg1958CysfsTer9)
c.5470_5476del (p.Arg1824CysfsTer9)
c.4708_4714del (p.Arg1570CysfsTer9)
c.3604_3610del (p.Arg1202CysfsTer9)
 ClinVar
21g.46411861A>CCA410556840PCNTn.133A>C
c.5821A>C (p.Ser1941Arg)
c.*5031A>C (n.*5031A>C)
c.5788A>C (p.Ser1930Arg)
n.6057A>C
c.5434A>C (p.Ser1812Arg)
c.5899A>C (p.Ser1967Arg)
c.5869A>C (p.Ser1957Arg)
c.5467A>C (p.Ser1823Arg)
c.4705A>C (p.Ser1569Arg)
c.3601A>C (p.Ser1201Arg)
21g.46411861A>GCA410556843PCNTn.133A>G
c.5821A>G (p.Ser1941Gly)
c.*5031A>G (n.*5031A>G)
c.5788A>G (p.Ser1930Gly)
n.6057A>G
c.5434A>G (p.Ser1812Gly)
c.5899A>G (p.Ser1967Gly)
c.5869A>G (p.Ser1957Gly)
c.5467A>G (p.Ser1823Gly)
c.4705A>G (p.Ser1569Gly)
c.3601A>G (p.Ser1201Gly)
 gnomAD v4
21g.46411861A>TCA410556845PCNTn.133A>T
c.5821A>T (p.Ser1941Cys)
c.*5031A>T (n.*5031A>T)
c.5788A>T (p.Ser1930Cys)
n.6057A>T
c.5434A>T (p.Ser1812Cys)
c.5899A>T (p.Ser1967Cys)
c.5869A>T (p.Ser1957Cys)
c.5467A>T (p.Ser1823Cys)
c.4705A>T (p.Ser1569Cys)
c.3601A>T (p.Ser1201Cys)
21g.46411862G>ACA410556849PCNTn.134G>A
c.5822G>A (p.Ser1941Asn)
c.*5032G>A (n.*5032G>A)
c.5789G>A (p.Ser1930Asn)
n.6058G>A
c.5435G>A (p.Ser1812Asn)
c.5900G>A (p.Ser1967Asn)
c.5870G>A (p.Ser1957Asn)
c.5468G>A (p.Ser1823Asn)
c.4706G>A (p.Ser1569Asn)
c.3602G>A (p.Ser1201Asn)
21g.46411862G>CCA410556851PCNTn.134G>C
c.5822G>C (p.Ser1941Thr)
c.*5032G>C (n.*5032G>C)
c.5789G>C (p.Ser1930Thr)
n.6058G>C
c.5435G>C (p.Ser1812Thr)
c.5900G>C (p.Ser1967Thr)
c.5870G>C (p.Ser1957Thr)
c.5468G>C (p.Ser1823Thr)
c.4706G>C (p.Ser1569Thr)
c.3602G>C (p.Ser1201Thr)
21g.46411862G>TCA410556855PCNTn.134G>T
c.5822G>T (p.Ser1941Ile)
c.*5032G>T (n.*5032G>T)
c.5789G>T (p.Ser1930Ile)
n.6058G>T
c.5435G>T (p.Ser1812Ile)
c.5900G>T (p.Ser1967Ile)
c.5870G>T (p.Ser1957Ile)
c.5468G>T (p.Ser1823Ile)
c.4706G>T (p.Ser1569Ile)
c.3602G>T (p.Ser1201Ile)
21g.46411863C>ACA410556858PCNTn.135C>A
c.5823C>A (p.Ser1941Arg)
c.*5033C>A (n.*5033C>A)
c.5790C>A (p.Ser1930Arg)
n.6059C>A
c.5436C>A (p.Ser1812Arg)
c.5901C>A (p.Ser1967Arg)
c.5871C>A (p.Ser1957Arg)
c.5469C>A (p.Ser1823Arg)
c.4707C>A (p.Ser1569Arg)
c.3603C>A (p.Ser1201Arg)
21g.46411863C=CA2392665097PCNTn.135C=
c.5823C= (p.Ser1941=)
c.*5033C= (n.*5033C=)
c.5790C= (p.Ser1930=)
n.6059C=
c.5436C= (p.Ser1812=)
c.5901C= (p.Ser1967=)
c.5871C= (p.Ser1957=)
c.5469C= (p.Ser1823=)
c.4707C= (p.Ser1569=)
c.3603C= (p.Ser1201=)
21g.46411863C>GCA410556859PCNTn.135C>G
c.5823C>G (p.Ser1941Arg)
c.*5033C>G (n.*5033C>G)
c.5790C>G (p.Ser1930Arg)
n.6059C>G
c.5436C>G (p.Ser1812Arg)
c.5901C>G (p.Ser1967Arg)
c.5871C>G (p.Ser1957Arg)
c.5469C>G (p.Ser1823Arg)
c.4707C>G (p.Ser1569Arg)
c.3603C>G (p.Ser1201Arg)
21g.46411863C>TCA513174067PCNTn.135C>T
c.5823C>T (p.Ser1941=)
c.*5033C>T (n.*5033C>T)
c.5790C>T (p.Ser1930=)
n.6059C>T
c.5436C>T (p.Ser1812=)
c.5901C>T (p.Ser1967=)
c.5871C>T (p.Ser1957=)
c.5469C>T (p.Ser1823=)
c.4707C>T (p.Ser1569=)
c.3603C>T (p.Ser1201=)
 dbSNP gnomAD v3 gnomAD v4
21g.46411864C>ACA410556864PCNTn.136C>A
c.5824C>A (p.Arg1942Ser)
c.*5034C>A (n.*5034C>A)
c.5791C>A (p.Arg1931Ser)
n.6060C>A
c.5437C>A (p.Arg1813Ser)
c.5902C>A (p.Arg1968Ser)
c.5872C>A (p.Arg1958Ser)
c.5470C>A (p.Arg1824Ser)
c.4708C>A (p.Arg1570Ser)
c.3604C>A (p.Arg1202Ser)
 gnomAD v4
21g.46411864C=CA2392665098PCNTn.136C=
c.5824C= (p.Arg1942=)
c.*5034C= (n.*5034C=)
c.5791C= (p.Arg1931=)
n.6060C=
c.5437C= (p.Arg1813=)
c.5902C= (p.Arg1968=)
c.5872C= (p.Arg1958=)
c.5470C= (p.Arg1824=)
c.4708C= (p.Arg1570=)
c.3604C= (p.Arg1202=)
21g.46411864C>GCA410556867PCNTn.136C>G
c.5824C>G (p.Arg1942Gly)
c.*5034C>G (n.*5034C>G)
c.5791C>G (p.Arg1931Gly)
n.6060C>G
c.5437C>G (p.Arg1813Gly)
c.5902C>G (p.Arg1968Gly)
c.5872C>G (p.Arg1958Gly)
c.5470C>G (p.Arg1824Gly)
c.4708C>G (p.Arg1570Gly)
c.3604C>G (p.Arg1202Gly)
21g.46411864C>TCA10080090PCNTn.136C>T
c.5824C>T (p.Arg1942Cys)
c.*5034C>T (n.*5034C>T)
c.5791C>T (p.Arg1931Cys)
n.6060C>T
c.5437C>T (p.Arg1813Cys)
c.5902C>T (p.Arg1968Cys)
c.5872C>T (p.Arg1958Cys)
c.5470C>T (p.Arg1824Cys)
c.4708C>T (p.Arg1570Cys)
c.3604C>T (p.Arg1202Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411865G>ACA10080092PCNTn.137G>A
c.5825G>A (p.Arg1942His)
c.*5035G>A (n.*5035G>A)
c.5792G>A (p.Arg1931His)
n.6061G>A
c.5438G>A (p.Arg1813His)
c.5903G>A (p.Arg1968His)
c.5873G>A (p.Arg1958His)
c.5471G>A (p.Arg1824His)
c.4709G>A (p.Arg1570His)
c.3605G>A (p.Arg1202His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411865G>CCA410556877PCNTn.137G>C
c.5825G>C (p.Arg1942Pro)
c.*5035G>C (n.*5035G>C)
c.5792G>C (p.Arg1931Pro)
n.6061G>C
c.5438G>C (p.Arg1813Pro)
c.5903G>C (p.Arg1968Pro)
c.5873G>C (p.Arg1958Pro)
c.5471G>C (p.Arg1824Pro)
c.4709G>C (p.Arg1570Pro)
c.3605G>C (p.Arg1202Pro)
 gnomAD v4
21g.46411865G=CA2392665099PCNTn.137G=
c.5825G= (p.Arg1942=)
c.*5035G= (n.*5035G=)
c.5792G= (p.Arg1931=)
n.6061G=
c.5438G= (p.Arg1813=)
c.5903G= (p.Arg1968=)
c.5873G= (p.Arg1958=)
c.5471G= (p.Arg1824=)
c.4709G= (p.Arg1570=)
c.3605G= (p.Arg1202=)
21g.46411865G>TCA10080091PCNTn.137G>T
c.5825G>T (p.Arg1942Leu)
c.*5035G>T (n.*5035G>T)
c.5792G>T (p.Arg1931Leu)
n.6061G>T
c.5438G>T (p.Arg1813Leu)
c.5903G>T (p.Arg1968Leu)
c.5873G>T (p.Arg1958Leu)
c.5471G>T (p.Arg1824Leu)
c.4709G>T (p.Arg1570Leu)
c.3605G>T (p.Arg1202Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411867_46411879delCA2655023993PCNTn.139_151del
c.5827_5839del (p.Gln1943CysfsTer6)
c.*5037_*5049del (n.*5037_*5049del)
c.5794_5806del (p.Gln1932CysfsTer6)
n.6063_6075del
c.5440_5452del (p.Gln1814CysfsTer6)
c.5905_5917del (p.Gln1969CysfsTer6)
c.5875_5887del (p.Gln1959CysfsTer6)
c.5473_5485del (p.Gln1825CysfsTer6)
c.4711_4723del (p.Gln1571CysfsTer6)
c.3607_3619del (p.Gln1203CysfsTer6)
 gnomAD v4
21g.46411866C>ACA513174070PCNTn.138C>A
c.5826C>A (p.Arg1942=)
c.*5036C>A (n.*5036C>A)
c.5793C>A (p.Arg1931=)
n.6062C>A
c.5439C>A (p.Arg1813=)
c.5904C>A (p.Arg1968=)
c.5874C>A (p.Arg1958=)
c.5472C>A (p.Arg1824=)
c.4710C>A (p.Arg1570=)
c.3606C>A (p.Arg1202=)
 gnomAD v4
21g.46411866C>GCA513174071PCNTn.138C>G
c.5826C>G (p.Arg1942=)
c.*5036C>G (n.*5036C>G)
c.5793C>G (p.Arg1931=)
n.6062C>G
c.5439C>G (p.Arg1813=)
c.5904C>G (p.Arg1968=)
c.5874C>G (p.Arg1958=)
c.5472C>G (p.Arg1824=)
c.4710C>G (p.Arg1570=)
c.3606C>G (p.Arg1202=)
21g.46411866C>TCA513174072PCNTn.138C>T
c.5826C>T (p.Arg1942=)
c.*5036C>T (n.*5036C>T)
c.5793C>T (p.Arg1931=)
n.6062C>T
c.5439C>T (p.Arg1813=)
c.5904C>T (p.Arg1968=)
c.5874C>T (p.Arg1958=)
c.5472C>T (p.Arg1824=)
c.4710C>T (p.Arg1570=)
c.3606C>T (p.Arg1202=)
21g.46411867C>ACA410556881PCNTn.139C>A
c.5827C>A (p.Gln1943Lys)
c.*5037C>A (n.*5037C>A)
c.5794C>A (p.Gln1932Lys)
n.6063C>A
c.5440C>A (p.Gln1814Lys)
c.5905C>A (p.Gln1969Lys)
c.5875C>A (p.Gln1959Lys)
c.5473C>A (p.Gln1825Lys)
c.4711C>A (p.Gln1571Lys)
c.3607C>A (p.Gln1203Lys)
 gnomAD v4
21g.46411867C>GCA410556883PCNTn.139C>G
c.5827C>G (p.Gln1943Glu)
c.*5037C>G (n.*5037C>G)
c.5794C>G (p.Gln1932Glu)
n.6063C>G
c.5440C>G (p.Gln1814Glu)
c.5905C>G (p.Gln1969Glu)
c.5875C>G (p.Gln1959Glu)
c.5473C>G (p.Gln1825Glu)
c.4711C>G (p.Gln1571Glu)
c.3607C>G (p.Gln1203Glu)
21g.46411867C>TCA410556887PCNTn.139C>T
c.5827C>T (p.Gln1943Ter)
c.*5037C>T (n.*5037C>T)
c.5794C>T (p.Gln1932Ter)
n.6063C>T
c.5440C>T (p.Gln1814Ter)
c.5905C>T (p.Gln1969Ter)
c.5875C>T (p.Gln1959Ter)
c.5473C>T (p.Gln1825Ter)
c.4711C>T (p.Gln1571Ter)
c.3607C>T (p.Gln1203Ter)
21g.46411868A>CCA410556890PCNTn.140A>C
c.5828A>C (p.Gln1943Pro)
c.*5038A>C (n.*5038A>C)
c.5795A>C (p.Gln1932Pro)
n.6064A>C
c.5441A>C (p.Gln1814Pro)
c.5906A>C (p.Gln1969Pro)
c.5876A>C (p.Gln1959Pro)
c.5474A>C (p.Gln1825Pro)
c.4712A>C (p.Gln1571Pro)
c.3608A>C (p.Gln1203Pro)
21g.46411868A>GCA410556891PCNTn.140A>G
c.5828A>G (p.Gln1943Arg)
c.*5038A>G (n.*5038A>G)
c.5795A>G (p.Gln1932Arg)
n.6064A>G
c.5441A>G (p.Gln1814Arg)
c.5906A>G (p.Gln1969Arg)
c.5876A>G (p.Gln1959Arg)
c.5474A>G (p.Gln1825Arg)
c.4712A>G (p.Gln1571Arg)
c.3608A>G (p.Gln1203Arg)
 gnomAD v4
21g.46411868A>TCA410556894PCNTn.140A>T
c.5828A>T (p.Gln1943Leu)
c.*5038A>T (n.*5038A>T)
c.5795A>T (p.Gln1932Leu)
n.6064A>T
c.5441A>T (p.Gln1814Leu)
c.5906A>T (p.Gln1969Leu)
c.5876A>T (p.Gln1959Leu)
c.5474A>T (p.Gln1825Leu)
c.4712A>T (p.Gln1571Leu)
c.3608A>T (p.Gln1203Leu)
21g.46411869G>ACA513174078PCNTn.141G>A
c.5829G>A (p.Gln1943=)
c.*5039G>A (n.*5039G>A)
c.5796G>A (p.Gln1932=)
n.6065G>A
c.5442G>A (p.Gln1814=)
c.5907G>A (p.Gln1969=)
c.5877G>A (p.Gln1959=)
c.5475G>A (p.Gln1825=)
c.4713G>A (p.Gln1571=)
c.3609G>A (p.Gln1203=)
21g.46411869G>CCA410556896PCNTn.141G>C
c.5829G>C (p.Gln1943His)
c.*5039G>C (n.*5039G>C)
c.5796G>C (p.Gln1932His)
n.6065G>C
c.5442G>C (p.Gln1814His)
c.5907G>C (p.Gln1969His)
c.5877G>C (p.Gln1959His)
c.5475G>C (p.Gln1825His)
c.4713G>C (p.Gln1571His)
c.3609G>C (p.Gln1203His)
21g.46411869G>TCA410556900PCNTn.141G>T
c.5829G>T (p.Gln1943His)
c.*5039G>T (n.*5039G>T)
c.5796G>T (p.Gln1932His)
n.6065G>T
c.5442G>T (p.Gln1814His)
c.5907G>T (p.Gln1969His)
c.5877G>T (p.Gln1959His)
c.5475G>T (p.Gln1825His)
c.4713G>T (p.Gln1571His)
c.3609G>T (p.Gln1203His)
 gnomAD v4
21g.46411870C>ACA410556905PCNTn.142C>A
c.5830C>A (p.Leu1944Met)
c.*5040C>A (n.*5040C>A)
c.5797C>A (p.Leu1933Met)
n.6066C>A
c.5443C>A (p.Leu1815Met)
c.5908C>A (p.Leu1970Met)
c.5878C>A (p.Leu1960Met)
c.5476C>A (p.Leu1826Met)
c.4714C>A (p.Leu1572Met)
c.3610C>A (p.Leu1204Met)
 gnomAD v4
21g.46411870C=CA2392665100PCNTn.142C=
c.5830C= (p.Leu1944=)
c.*5040C= (n.*5040C=)
c.5797C= (p.Leu1933=)
n.6066C=
c.5443C= (p.Leu1815=)
c.5908C= (p.Leu1970=)
c.5878C= (p.Leu1960=)
c.5476C= (p.Leu1826=)
c.4714C= (p.Leu1572=)
c.3610C= (p.Leu1204=)
21g.46411870C>GCA10080093PCNTn.142C>G
c.5830C>G (p.Leu1944Val)
c.*5040C>G (n.*5040C>G)
c.5797C>G (p.Leu1933Val)
n.6066C>G
c.5443C>G (p.Leu1815Val)
c.5908C>G (p.Leu1970Val)
c.5878C>G (p.Leu1960Val)
c.5476C>G (p.Leu1826Val)
c.4714C>G (p.Leu1572Val)
c.3610C>G (p.Leu1204Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411870C>TCA513174082PCNTn.142C>T
c.5830C>T (p.Leu1944=)
c.*5040C>T (n.*5040C>T)
c.5797C>T (p.Leu1933=)
n.6066C>T
c.5443C>T (p.Leu1815=)
c.5908C>T (p.Leu1970=)
c.5878C>T (p.Leu1960=)
c.5476C>T (p.Leu1826=)
c.4714C>T (p.Leu1572=)
c.3610C>T (p.Leu1204=)
21g.46411871T>ACA410556908PCNTn.143T>A
c.5831T>A (p.Leu1944Gln)
c.*5041T>A (n.*5041T>A)
c.5798T>A (p.Leu1933Gln)
n.6067T>A
c.5444T>A (p.Leu1815Gln)
c.5909T>A (p.Leu1970Gln)
c.5879T>A (p.Leu1960Gln)
c.5477T>A (p.Leu1826Gln)
c.4715T>A (p.Leu1572Gln)
c.3611T>A (p.Leu1204Gln)
21g.46411871T>CCA410556910PCNTn.143T>C
c.5831T>C (p.Leu1944Pro)
c.*5041T>C (n.*5041T>C)
c.5798T>C (p.Leu1933Pro)
n.6067T>C
c.5444T>C (p.Leu1815Pro)
c.5909T>C (p.Leu1970Pro)
c.5879T>C (p.Leu1960Pro)
c.5477T>C (p.Leu1826Pro)
c.4715T>C (p.Leu1572Pro)
c.3611T>C (p.Leu1204Pro)
 dbSNP
21g.46411871T>GCA410556914PCNTn.143T>G
c.5831T>G (p.Leu1944Arg)
c.*5041T>G (n.*5041T>G)
c.5798T>G (p.Leu1933Arg)
n.6067T>G
c.5444T>G (p.Leu1815Arg)
c.5909T>G (p.Leu1970Arg)
c.5879T>G (p.Leu1960Arg)
c.5477T>G (p.Leu1826Arg)
c.4715T>G (p.Leu1572Arg)
c.3611T>G (p.Leu1204Arg)
21g.46411871T=CA2392665101PCNTn.143T=
c.5831T= (p.Leu1944=)
c.*5041T= (n.*5041T=)
c.5798T= (p.Leu1933=)
n.6067T=
c.5444T= (p.Leu1815=)
c.5909T= (p.Leu1970=)
c.5879T= (p.Leu1960=)
c.5477T= (p.Leu1826=)
c.4715T= (p.Leu1572=)
c.3611T= (p.Leu1204=)
21g.46411872G>ACA513174089PCNTn.144G>A
c.5832G>A (p.Leu1944=)
c.*5042G>A (n.*5042G>A)
c.5799G>A (p.Leu1933=)
n.6068G>A
c.5445G>A (p.Leu1815=)
c.5910G>A (p.Leu1970=)
c.5880G>A (p.Leu1960=)
c.5478G>A (p.Leu1826=)
c.4716G>A (p.Leu1572=)
c.3612G>A (p.Leu1204=)
 gnomAD v4
21g.46411872G>CCA513174090PCNTn.144G>C
c.5832G>C (p.Leu1944=)
c.*5042G>C (n.*5042G>C)
c.5799G>C (p.Leu1933=)
n.6068G>C
c.5445G>C (p.Leu1815=)
c.5910G>C (p.Leu1970=)
c.5880G>C (p.Leu1960=)
c.5478G>C (p.Leu1826=)
c.4716G>C (p.Leu1572=)
c.3612G>C (p.Leu1204=)
21g.46411872G>TCA513174091PCNTn.144G>T
c.5832G>T (p.Leu1944=)
c.*5042G>T (n.*5042G>T)
c.5799G>T (p.Leu1933=)
n.6068G>T
c.5445G>T (p.Leu1815=)
c.5910G>T (p.Leu1970=)
c.5880G>T (p.Leu1960=)
c.5478G>T (p.Leu1826=)
c.4716G>T (p.Leu1572=)
c.3612G>T (p.Leu1204=)
 gnomAD v4
21g.46411873C>ACA410556917PCNTn.145C>A
c.5833C>A (p.Gln1945Lys)
c.*5043C>A (n.*5043C>A)
c.5800C>A (p.Gln1934Lys)
n.6069C>A
c.5446C>A (p.Gln1816Lys)
c.5911C>A (p.Gln1971Lys)
c.5881C>A (p.Gln1961Lys)
c.5479C>A (p.Gln1827Lys)
c.4717C>A (p.Gln1573Lys)
c.3613C>A (p.Gln1205Lys)
 gnomAD v4
21g.46411873C>GCA410556918PCNTn.145C>G
c.5833C>G (p.Gln1945Glu)
c.*5043C>G (n.*5043C>G)
c.5800C>G (p.Gln1934Glu)
n.6069C>G
c.5446C>G (p.Gln1816Glu)
c.5911C>G (p.Gln1971Glu)
c.5881C>G (p.Gln1961Glu)
c.5479C>G (p.Gln1827Glu)
c.4717C>G (p.Gln1573Glu)
c.3613C>G (p.Gln1205Glu)
21g.46411873C>TCA410556920PCNTn.145C>T
c.5833C>T (p.Gln1945Ter)
c.*5043C>T (n.*5043C>T)
c.5800C>T (p.Gln1934Ter)
n.6069C>T
c.5446C>T (p.Gln1816Ter)
c.5911C>T (p.Gln1971Ter)
c.5881C>T (p.Gln1961Ter)
c.5479C>T (p.Gln1827Ter)
c.4717C>T (p.Gln1573Ter)
c.3613C>T (p.Gln1205Ter)
 gnomAD v4
21g.46411874A=CA2392665102PCNTn.146A=
c.5834A= (p.Gln1945=)
c.*5044A= (n.*5044A=)
c.5801A= (p.Gln1934=)
n.6070A=
c.5447A= (p.Gln1816=)
c.5912A= (p.Gln1971=)
c.5882A= (p.Gln1961=)
c.5480A= (p.Gln1827=)
c.4718A= (p.Gln1573=)
c.3614A= (p.Gln1205=)
21g.46411874A>CCA410556924PCNTn.146A>C
c.5834A>C (p.Gln1945Pro)
c.*5044A>C (n.*5044A>C)
c.5801A>C (p.Gln1934Pro)
n.6070A>C
c.5447A>C (p.Gln1816Pro)
c.5912A>C (p.Gln1971Pro)
c.5882A>C (p.Gln1961Pro)
c.5480A>C (p.Gln1827Pro)
c.4718A>C (p.Gln1573Pro)
c.3614A>C (p.Gln1205Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46411874A>GCA410556922PCNTn.146A>G
c.5834A>G (p.Gln1945Arg)
c.*5044A>G (n.*5044A>G)
c.5801A>G (p.Gln1934Arg)
n.6070A>G
c.5447A>G (p.Gln1816Arg)
c.5912A>G (p.Gln1971Arg)
c.5882A>G (p.Gln1961Arg)
c.5480A>G (p.Gln1827Arg)
c.4718A>G (p.Gln1573Arg)
c.3614A>G (p.Gln1205Arg)
 gnomAD v4
21g.46411874A>TCA410556923PCNTn.146A>T
c.5834A>T (p.Gln1945Leu)
c.*5044A>T (n.*5044A>T)
c.5801A>T (p.Gln1934Leu)
n.6070A>T
c.5447A>T (p.Gln1816Leu)
c.5912A>T (p.Gln1971Leu)
c.5882A>T (p.Gln1961Leu)
c.5480A>T (p.Gln1827Leu)
c.4718A>T (p.Gln1573Leu)
c.3614A>T (p.Gln1205Leu)
21g.46411875G>ACA513174095PCNTn.147G>A
c.5835G>A (p.Gln1945=)
c.*5045G>A (n.*5045G>A)
c.5802G>A (p.Gln1934=)
n.6071G>A
c.5448G>A (p.Gln1816=)
c.5913G>A (p.Gln1971=)
c.5883G>A (p.Gln1961=)
c.5481G>A (p.Gln1827=)
c.4719G>A (p.Gln1573=)
c.3615G>A (p.Gln1205=)
21g.46411875G>CCA410556926PCNTn.147G>C
c.5835G>C (p.Gln1945His)
c.*5045G>C (n.*5045G>C)
c.5802G>C (p.Gln1934His)
n.6071G>C
c.5448G>C (p.Gln1816His)
c.5913G>C (p.Gln1971His)
c.5883G>C (p.Gln1961His)
c.5481G>C (p.Gln1827His)
c.4719G>C (p.Gln1573His)
c.3615G>C (p.Gln1205His)
21g.46411875G>TCA410556928PCNTn.147G>T
c.5835G>T (p.Gln1945His)
c.*5045G>T (n.*5045G>T)
c.5802G>T (p.Gln1934His)
n.6071G>T
c.5448G>T (p.Gln1816His)
c.5913G>T (p.Gln1971His)
c.5883G>T (p.Gln1961His)
c.5481G>T (p.Gln1827His)
c.4719G>T (p.Gln1573His)
c.3615G>T (p.Gln1205His)
 gnomAD v4
21g.46411876G>ACA10080094PCNTn.148G>A
c.5836G>A (p.Val1946Met)
c.*5046G>A (n.*5046G>A)
c.5803G>A (p.Val1935Met)
n.6072G>A
c.5449G>A (p.Val1817Met)
c.5914G>A (p.Val1972Met)
c.5884G>A (p.Val1962Met)
c.5482G>A (p.Val1828Met)
c.4720G>A (p.Val1574Met)
c.3616G>A (p.Val1206Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46411876G>CCA16609074PCNTn.148G>C
c.5836G>C (p.Val1946Leu)
c.*5046G>C (n.*5046G>C)
c.5803G>C (p.Val1935Leu)
n.6072G>C
c.5449G>C (p.Val1817Leu)
c.5914G>C (p.Val1972Leu)
c.5884G>C (p.Val1962Leu)
c.5482G>C (p.Val1828Leu)
c.4720G>C (p.Val1574Leu)
c.3616G>C (p.Val1206Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46411876G=CA2392665103PCNTn.148G=
c.5836G= (p.Val1946=)
c.*5046G= (n.*5046G=)
c.5803G= (p.Val1935=)
n.6072G=
c.5449G= (p.Val1817=)
c.5914G= (p.Val1972=)
c.5884G= (p.Val1962=)
c.5482G= (p.Val1828=)
c.4720G= (p.Val1574=)
c.3616G= (p.Val1206=)
21g.46411876G>TCA410556940PCNTn.148G>T
c.5836G>T (p.Val1946Leu)
c.*5046G>T (n.*5046G>T)
c.5803G>T (p.Val1935Leu)
n.6072G>T
c.5449G>T (p.Val1817Leu)
c.5914G>T (p.Val1972Leu)
c.5884G>T (p.Val1962Leu)
c.5482G>T (p.Val1828Leu)
c.4720G>T (p.Val1574Leu)
c.3616G>T (p.Val1206Leu)
 gnomAD v4
21g.46411877T>ACA410556943PCNTn.149T>A
c.5837T>A (p.Val1946Glu)
c.*5047T>A (n.*5047T>A)
c.5804T>A (p.Val1935Glu)
n.6073T>A
c.5450T>A (p.Val1817Glu)
c.5915T>A (p.Val1972Glu)
c.5885T>A (p.Val1962Glu)
c.5483T>A (p.Val1828Glu)
c.4721T>A (p.Val1574Glu)
c.3617T>A (p.Val1206Glu)
21g.46411877T>CCA410556948PCNTn.149T>C
c.5837T>C (p.Val1946Ala)
c.*5047T>C (n.*5047T>C)
c.5804T>C (p.Val1935Ala)
n.6073T>C
c.5450T>C (p.Val1817Ala)
c.5915T>C (p.Val1972Ala)
c.5885T>C (p.Val1962Ala)
c.5483T>C (p.Val1828Ala)
c.4721T>C (p.Val1574Ala)
c.3617T>C (p.Val1206Ala)
 gnomAD v4
21g.46411877T>GCA410556945PCNTn.149T>G
c.5837T>G (p.Val1946Gly)
c.*5047T>G (n.*5047T>G)
c.5804T>G (p.Val1935Gly)
n.6073T>G
c.5450T>G (p.Val1817Gly)
c.5915T>G (p.Val1972Gly)
c.5885T>G (p.Val1962Gly)
c.5483T>G (p.Val1828Gly)
c.4721T>G (p.Val1574Gly)
c.3617T>G (p.Val1206Gly)
21g.46411878G>ACA513174098PCNTn.150G>A
c.5838G>A (p.Val1946=)
c.*5048G>A (n.*5048G>A)
c.5805G>A (p.Val1935=)
n.6074G>A
c.5451G>A (p.Val1817=)
c.5916G>A (p.Val1972=)
c.5886G>A (p.Val1962=)
c.5484G>A (p.Val1828=)
c.4722G>A (p.Val1574=)
c.3618G>A (p.Val1206=)
 gnomAD v4
21g.46411878G>CCA513174099PCNTn.150G>C
c.5838G>C (p.Val1946=)
c.*5048G>C (n.*5048G>C)
c.5805G>C (p.Val1935=)
n.6074G>C
c.5451G>C (p.Val1817=)
c.5916G>C (p.Val1972=)
c.5886G>C (p.Val1962=)
c.5484G>C (p.Val1828=)
c.4722G>C (p.Val1574=)
c.3618G>C (p.Val1206=)
21g.46411878G>TCA513174100PCNTn.150G>T
c.5838G>T (p.Val1946=)
c.*5048G>T (n.*5048G>T)
c.5805G>T (p.Val1935=)
n.6074G>T
c.5451G>T (p.Val1817=)
c.5916G>T (p.Val1972=)
c.5886G>T (p.Val1962=)
c.5484G>T (p.Val1828=)
c.4722G>T (p.Val1574=)
c.3618G>T (p.Val1206=)
 gnomAD v4
21g.46411879C>ACA410556949PCNTn.151C>A
c.5839C>A (p.Leu1947Met)
c.*5049C>A (n.*5049C>A)
c.5806C>A (p.Leu1936Met)
n.6075C>A
c.5452C>A (p.Leu1818Met)
c.5917C>A (p.Leu1973Met)
c.5887C>A (p.Leu1963Met)
c.5485C>A (p.Leu1829Met)
c.4723C>A (p.Leu1575Met)
c.3619C>A (p.Leu1207Met)
21g.46411879C>GCA410556953PCNTn.151C>G
c.5839C>G (p.Leu1947Val)
c.*5049C>G (n.*5049C>G)
c.5806C>G (p.Leu1936Val)
n.6075C>G
c.5452C>G (p.Leu1818Val)
c.5917C>G (p.Leu1973Val)
c.5887C>G (p.Leu1963Val)
c.5485C>G (p.Leu1829Val)
c.4723C>G (p.Leu1575Val)
c.3619C>G (p.Leu1207Val)
21g.46411879C>TCA513174110PCNTn.151C>T
c.5839C>T (p.Leu1947=)
c.*5049C>T (n.*5049C>T)
c.5806C>T (p.Leu1936=)
n.6075C>T
c.5452C>T (p.Leu1818=)
c.5917C>T (p.Leu1973=)
c.5887C>T (p.Leu1963=)
c.5485C>T (p.Leu1829=)
c.4723C>T (p.Leu1575=)
c.3619C>T (p.Leu1207=)
 gnomAD v4
21g.46411880T>ACA410556955PCNTn.152T>A
c.5840T>A (p.Leu1947Gln)
c.*5050T>A (n.*5050T>A)
c.5807T>A (p.Leu1936Gln)
n.6076T>A
c.5453T>A (p.Leu1818Gln)
c.5918T>A (p.Leu1973Gln)
c.5888T>A (p.Leu1963Gln)
c.5486T>A (p.Leu1829Gln)
c.4724T>A (p.Leu1575Gln)
c.3620T>A (p.Leu1207Gln)
 gnomAD v4
21g.46411880T>CCA410556957PCNTn.152T>C
c.5840T>C (p.Leu1947Pro)
c.*5050T>C (n.*5050T>C)
c.5807T>C (p.Leu1936Pro)
n.6076T>C
c.5453T>C (p.Leu1818Pro)
c.5918T>C (p.Leu1973Pro)
c.5888T>C (p.Leu1963Pro)
c.5486T>C (p.Leu1829Pro)
c.4724T>C (p.Leu1575Pro)
c.3620T>C (p.Leu1207Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46411880T>GCA410556959PCNTn.152T>G
c.5840T>G (p.Leu1947Arg)
c.*5050T>G (n.*5050T>G)
c.5807T>G (p.Leu1936Arg)
n.6076T>G
c.5453T>G (p.Leu1818Arg)
c.5918T>G (p.Leu1973Arg)
c.5888T>G (p.Leu1963Arg)
c.5486T>G (p.Leu1829Arg)
c.4724T>G (p.Leu1575Arg)
c.3620T>G (p.Leu1207Arg)
21g.46411880T=CA2392665104PCNTn.152T=
c.5840T= (p.Leu1947=)
c.*5050T= (n.*5050T=)
c.5807T= (p.Leu1936=)
n.6076T=
c.5453T= (p.Leu1818=)
c.5918T= (p.Leu1973=)
c.5888T= (p.Leu1963=)
c.5486T= (p.Leu1829=)
c.4724T= (p.Leu1575=)
c.3620T= (p.Leu1207=)
21g.46411881G>ACA513174112PCNTn.153G>A
c.5841G>A (p.Leu1947=)
c.*5051G>A (n.*5051G>A)
c.5808G>A (p.Leu1936=)
n.6077G>A
c.5454G>A (p.Leu1818=)
c.5919G>A (p.Leu1973=)
c.5889G>A (p.Leu1963=)
c.5487G>A (p.Leu1829=)
c.4725G>A (p.Leu1575=)
c.3621G>A (p.Leu1207=)
 ClinVar gnomAD v4
21g.46411881G>CCA513174113PCNTn.153G>C
c.5841G>C (p.Leu1947=)
c.*5051G>C (n.*5051G>C)
c.5808G>C (p.Leu1936=)
n.6077G>C
c.5454G>C (p.Leu1818=)
c.5919G>C (p.Leu1973=)
c.5889G>C (p.Leu1963=)
c.5487G>C (p.Leu1829=)
c.4725G>C (p.Leu1575=)
c.3621G>C (p.Leu1207=)
21g.46411881G>TCA513174114PCNTn.153G>T
c.5841G>T (p.Leu1947=)
c.*5051G>T (n.*5051G>T)
c.5808G>T (p.Leu1936=)
n.6077G>T
c.5454G>T (p.Leu1818=)
c.5919G>T (p.Leu1973=)
c.5889G>T (p.Leu1963=)
c.5487G>T (p.Leu1829=)
c.4725G>T (p.Leu1575=)
c.3621G>T (p.Leu1207=)
21g.46411882C>ACA410556965PCNTn.154C>A
c.5842C>A (p.His1948Asn)
c.*5052C>A (n.*5052C>A)
c.5809C>A (p.His1937Asn)
n.6078C>A
c.5455C>A (p.His1819Asn)
c.5920C>A (p.His1974Asn)
c.5890C>A (p.His1964Asn)
c.5488C>A (p.His1830Asn)
c.4726C>A (p.His1576Asn)
c.3622C>A (p.His1208Asn)
 gnomAD v4
21g.46411882C=CA2392665105PCNTn.154C=
c.5842C= (p.His1948=)
c.*5052C= (n.*5052C=)
c.5809C= (p.His1937=)
n.6078C=
c.5455C= (p.His1819=)
c.5920C= (p.His1974=)
c.5890C= (p.His1964=)
c.5488C= (p.His1830=)
c.4726C= (p.His1576=)
c.3622C= (p.His1208=)
21g.46411882C>GCA410556962PCNTn.154C>G
c.5842C>G (p.His1948Asp)
c.*5052C>G (n.*5052C>G)
c.5809C>G (p.His1937Asp)
n.6078C>G
c.5455C>G (p.His1819Asp)
c.5920C>G (p.His1974Asp)
c.5890C>G (p.His1964Asp)
c.5488C>G (p.His1830Asp)
c.4726C>G (p.His1576Asp)
c.3622C>G (p.His1208Asp)
21g.46411882C>TCA410556960PCNTn.154C>T
c.5842C>T (p.His1948Tyr)
c.*5052C>T (n.*5052C>T)
c.5809C>T (p.His1937Tyr)
n.6078C>T
c.5455C>T (p.His1819Tyr)
c.5920C>T (p.His1974Tyr)
c.5890C>T (p.His1964Tyr)
c.5488C>T (p.His1830Tyr)
c.4726C>T (p.His1576Tyr)
c.3622C>T (p.His1208Tyr)
 dbSNP gnomAD v3 gnomAD v4
21g.46411883A=CA2392665106PCNTn.155A=
c.5843A= (p.His1948=)
c.*5053A= (n.*5053A=)
c.5810A= (p.His1937=)
n.6079A=
c.5456A= (p.His1819=)
c.5921A= (p.His1974=)
c.5891A= (p.His1964=)
c.5489A= (p.His1830=)
c.4727A= (p.His1576=)
c.3623A= (p.His1208=)
21g.46411883A>CCA410556969PCNTn.155A>C
c.5843A>C (p.His1948Pro)
c.*5053A>C (n.*5053A>C)
c.5810A>C (p.His1937Pro)
n.6079A>C
c.5456A>C (p.His1819Pro)
c.5921A>C (p.His1974Pro)
c.5891A>C (p.His1964Pro)
c.5489A>C (p.His1830Pro)
c.4727A>C (p.His1576Pro)
c.3623A>C (p.His1208Pro)
21g.46411883A>GCA410556973PCNTn.155A>G
c.5843A>G (p.His1948Arg)
c.*5053A>G (n.*5053A>G)
c.5810A>G (p.His1937Arg)
n.6079A>G
c.5456A>G (p.His1819Arg)
c.5921A>G (p.His1974Arg)
c.5891A>G (p.His1964Arg)
c.5489A>G (p.His1830Arg)
c.4727A>G (p.His1576Arg)
c.3623A>G (p.His1208Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46411883A>TCA410556981PCNTn.155A>T
c.5843A>T (p.His1948Leu)
c.*5053A>T (n.*5053A>T)
c.5810A>T (p.His1937Leu)
n.6079A>T
c.5456A>T (p.His1819Leu)
c.5921A>T (p.His1974Leu)
c.5891A>T (p.His1964Leu)
c.5489A>T (p.His1830Leu)
c.4727A>T (p.His1576Leu)
c.3623A>T (p.His1208Leu)
21g.46411883_46411884delinsGTCA2580099045PCNTn.155_156delinsGT
c.5843_5844delinsGT (p.His1948Arg)
c.*5053_*5054delinsGT (n.*5053_*5054delinsGT)
c.5810_5811delinsGT (p.His1937Arg)
n.6079_6080delinsGT
c.5456_5457delinsGT (p.His1819Arg)
c.5921_5922delinsGT (p.His1974Arg)
c.5891_5892delinsGT (p.His1964Arg)
c.5489_5490delinsGT (p.His1830Arg)
c.4727_4728delinsGT (p.His1576Arg)
c.3623_3624delinsGT (p.His1208Arg)
 ClinVar
21g.46411884C>ACA410556985PCNTn.156C>A
c.5844C>A (p.His1948Gln)
c.*5054C>A (n.*5054C>A)
c.5811C>A (p.His1937Gln)
n.6080C>A
c.5457C>A (p.His1819Gln)
c.5922C>A (p.His1974Gln)
c.5892C>A (p.His1964Gln)
c.5490C>A (p.His1830Gln)
c.4728C>A (p.His1576Gln)
c.3624C>A (p.His1208Gln)
21g.46411884C=CA2392665107PCNTn.156C=
c.5844C= (p.His1948=)
c.*5054C= (n.*5054C=)
c.5811C= (p.His1937=)
n.6080C=
c.5457C= (p.His1819=)
c.5922C= (p.His1974=)
c.5892C= (p.His1964=)
c.5490C= (p.His1830=)
c.4728C= (p.His1576=)
c.3624C= (p.His1208=)
21g.46411884C>GCA410556993PCNTn.156C>G
c.5844C>G (p.His1948Gln)
c.*5054C>G (n.*5054C>G)
c.5811C>G (p.His1937Gln)
n.6080C>G
c.5457C>G (p.His1819Gln)
c.5922C>G (p.His1974Gln)
c.5892C>G (p.His1964Gln)
c.5490C>G (p.His1830Gln)
c.4728C>G (p.His1576Gln)
c.3624C>G (p.His1208Gln)
 ClinVar
21g.46411884C>TCA10080095PCNTn.156C>T
c.5844C>T (p.His1948=)
c.*5054C>T (n.*5054C>T)
c.5811C>T (p.His1937=)
n.6080C>T
c.5457C>T (p.His1819=)
c.5922C>T (p.His1974=)
c.5892C>T (p.His1964=)
c.5490C>T (p.His1830=)
c.4728C>T (p.His1576=)
c.3624C>T (p.His1208=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411885dupCA749898490PCNTn.157dup
c.5845dup (p.Gln1949ProfsTer?)
c.*5055dup (n.*5055dup)
c.5812dup (p.Gln1938ProfsTer?)
n.6081dup
c.5458dup (p.Gln1820ProfsTer?)
c.5923dup (p.Gln1975ProfsTer?)
c.5893dup (p.Gln1965ProfsTer?)
c.5491dup (p.Gln1831ProfsTer?)
c.4729dup (p.Gln1577ProfsTer?)
c.3625dup (p.Gln1209ProfsTer?)
 dbSNP gnomAD v4
21g.46411885C>ACA410556999PCNTn.157C>A
c.5845C>A (p.Gln1949Lys)
c.*5055C>A (n.*5055C>A)
c.5812C>A (p.Gln1938Lys)
n.6081C>A
c.5458C>A (p.Gln1820Lys)
c.5923C>A (p.Gln1975Lys)
c.5893C>A (p.Gln1965Lys)
c.5491C>A (p.Gln1831Lys)
c.4729C>A (p.Gln1577Lys)
c.3625C>A (p.Gln1209Lys)
21g.46411885C=CA2392665108PCNTn.157C=
c.5845C= (p.Gln1949=)
c.*5055C= (n.*5055C=)
c.5812C= (p.Gln1938=)
n.6081C=
c.5458C= (p.Gln1820=)
c.5923C= (p.Gln1975=)
c.5893C= (p.Gln1965=)
c.5491C= (p.Gln1831=)
c.4729C= (p.Gln1577=)
c.3625C= (p.Gln1209=)
21g.46411885C>GCA410557001PCNTn.157C>G
c.5845C>G (p.Gln1949Glu)
c.*5055C>G (n.*5055C>G)
c.5812C>G (p.Gln1938Glu)
n.6081C>G
c.5458C>G (p.Gln1820Glu)
c.5923C>G (p.Gln1975Glu)
c.5893C>G (p.Gln1965Glu)
c.5491C>G (p.Gln1831Glu)
c.4729C>G (p.Gln1577Glu)
c.3625C>G (p.Gln1209Glu)
21g.46411885C>TCA410557000PCNTn.157C>T
c.5845C>T (p.Gln1949Ter)
c.*5055C>T (n.*5055C>T)
c.5812C>T (p.Gln1938Ter)
n.6081C>T
c.5458C>T (p.Gln1820Ter)
c.5923C>T (p.Gln1975Ter)
c.5893C>T (p.Gln1965Ter)
c.5491C>T (p.Gln1831Ter)
c.4729C>T (p.Gln1577Ter)
c.3625C>T (p.Gln1209Ter)
 ClinVar dbSNP gnomAD v4
21g.46411886A=CA2392665109PCNTn.158A=
c.5846A= (p.Gln1949=)
c.*5056A= (n.*5056A=)
c.5813A= (p.Gln1938=)
n.6082A=
c.5459A= (p.Gln1820=)
c.5924A= (p.Gln1975=)
c.5894A= (p.Gln1965=)
c.5492A= (p.Gln1831=)
c.4730A= (p.Gln1577=)
c.3626A= (p.Gln1209=)
21g.46411886A>CCA410557002PCNTn.158A>C
c.5846A>C (p.Gln1949Pro)
c.*5056A>C (n.*5056A>C)
c.5813A>C (p.Gln1938Pro)
n.6082A>C
c.5459A>C (p.Gln1820Pro)
c.5924A>C (p.Gln1975Pro)
c.5894A>C (p.Gln1965Pro)
c.5492A>C (p.Gln1831Pro)
c.4730A>C (p.Gln1577Pro)
c.3626A>C (p.Gln1209Pro)
 ClinVar dbSNP gnomAD v4
21g.46411886A>GCA410557003PCNTn.158A>G
c.5846A>G (p.Gln1949Arg)
c.*5056A>G (n.*5056A>G)
c.5813A>G (p.Gln1938Arg)
n.6082A>G
c.5459A>G (p.Gln1820Arg)
c.5924A>G (p.Gln1975Arg)
c.5894A>G (p.Gln1965Arg)
c.5492A>G (p.Gln1831Arg)
c.4730A>G (p.Gln1577Arg)
c.3626A>G (p.Gln1209Arg)
21g.46411886A>TCA410557006PCNTn.158A>T
c.5846A>T (p.Gln1949Leu)
c.*5056A>T (n.*5056A>T)
c.5813A>T (p.Gln1938Leu)
n.6082A>T
c.5459A>T (p.Gln1820Leu)
c.5924A>T (p.Gln1975Leu)
c.5894A>T (p.Gln1965Leu)
c.5492A>T (p.Gln1831Leu)
c.4730A>T (p.Gln1577Leu)
c.3626A>T (p.Gln1209Leu)
21g.46411887G>ACA513174123PCNTn.159G>A
c.5847G>A (p.Gln1949=)
c.*5057G>A (n.*5057G>A)
c.5814G>A (p.Gln1938=)
n.6083G>A
c.5460G>A (p.Gln1820=)
c.5925G>A (p.Gln1975=)
c.5895G>A (p.Gln1965=)
c.5493G>A (p.Gln1831=)
c.4731G>A (p.Gln1577=)
c.3627G>A (p.Gln1209=)
21g.46411887G>CCA410557013PCNTn.159G>C
c.5847G>C (p.Gln1949His)
c.*5057G>C (n.*5057G>C)
c.5814G>C (p.Gln1938His)
n.6083G>C
c.5460G>C (p.Gln1820His)
c.5925G>C (p.Gln1975His)
c.5895G>C (p.Gln1965His)
c.5493G>C (p.Gln1831His)
c.4731G>C (p.Gln1577His)
c.3627G>C (p.Gln1209His)
21g.46411887G>TCA410557020PCNTn.159G>T
c.5847G>T (p.Gln1949His)
c.*5057G>T (n.*5057G>T)
c.5814G>T (p.Gln1938His)
n.6083G>T
c.5460G>T (p.Gln1820His)
c.5925G>T (p.Gln1975His)
c.5895G>T (p.Gln1965His)
c.5493G>T (p.Gln1831His)
c.4731G>T (p.Gln1577His)
c.3627G>T (p.Gln1209His)
 gnomAD v4
21g.46411888C>ACA513174124PCNTn.160C>A
c.5848C>A (p.Arg1950=)
c.*5058C>A (n.*5058C>A)
c.5815C>A (p.Arg1939=)
n.6084C>A
c.5461C>A (p.Arg1821=)
c.5926C>A (p.Arg1976=)
c.5896C>A (p.Arg1966=)
c.5494C>A (p.Arg1832=)
c.4732C>A (p.Arg1578=)
c.3628C>A (p.Arg1210=)
 gnomAD v4
21g.46411888C=CA2392665110PCNTn.160C=
c.5848C= (p.Arg1950=)
c.*5058C= (n.*5058C=)
c.5815C= (p.Arg1939=)
n.6084C=
c.5461C= (p.Arg1821=)
c.5926C= (p.Arg1976=)
c.5896C= (p.Arg1966=)
c.5494C= (p.Arg1832=)
c.4732C= (p.Arg1578=)
c.3628C= (p.Arg1210=)
21g.46411888C>GCA410557028PCNTn.160C>G
c.5848C>G (p.Arg1950Gly)
c.*5058C>G (n.*5058C>G)
c.5815C>G (p.Arg1939Gly)
n.6084C>G
c.5461C>G (p.Arg1821Gly)
c.5926C>G (p.Arg1976Gly)
c.5896C>G (p.Arg1966Gly)
c.5494C>G (p.Arg1832Gly)
c.4732C>G (p.Arg1578Gly)
c.3628C>G (p.Arg1210Gly)
 gnomAD v4
21g.46411888C>TCA10080096PCNTn.160C>T
c.5848C>T (p.Arg1950Trp)
c.*5058C>T (n.*5058C>T)
c.5815C>T (p.Arg1939Trp)
n.6084C>T
c.5461C>T (p.Arg1821Trp)
c.5926C>T (p.Arg1976Trp)
c.5896C>T (p.Arg1966Trp)
c.5494C>T (p.Arg1832Trp)
c.4732C>T (p.Arg1578Trp)
c.3628C>T (p.Arg1210Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411889G>ACA410557033PCNTn.161G>A
c.5849G>A (p.Arg1950Gln)
c.*5059G>A (n.*5059G>A)
c.5816G>A (p.Arg1939Gln)
n.6085G>A
c.5462G>A (p.Arg1821Gln)
c.5927G>A (p.Arg1976Gln)
c.5897G>A (p.Arg1966Gln)
c.5495G>A (p.Arg1832Gln)
c.4733G>A (p.Arg1578Gln)
c.3629G>A (p.Arg1210Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46411889G>CCA410557037PCNTn.161G>C
c.5849G>C (p.Arg1950Pro)
c.*5059G>C (n.*5059G>C)
c.5816G>C (p.Arg1939Pro)
n.6085G>C
c.5462G>C (p.Arg1821Pro)
c.5927G>C (p.Arg1976Pro)
c.5897G>C (p.Arg1966Pro)
c.5495G>C (p.Arg1832Pro)
c.4733G>C (p.Arg1578Pro)
c.3629G>C (p.Arg1210Pro)
 COSMIC
21g.46411889G=CA2392665111PCNTn.161G=
c.5849G= (p.Arg1950=)
c.*5059G= (n.*5059G=)
c.5816G= (p.Arg1939=)
n.6085G=
c.5462G= (p.Arg1821=)
c.5927G= (p.Arg1976=)
c.5897G= (p.Arg1966=)
c.5495G= (p.Arg1832=)
c.4733G= (p.Arg1578=)
c.3629G= (p.Arg1210=)
21g.46411889G>TCA410557047PCNTn.161G>T
c.5849G>T (p.Arg1950Leu)
c.*5059G>T (n.*5059G>T)
c.5816G>T (p.Arg1939Leu)
n.6085G>T
c.5462G>T (p.Arg1821Leu)
c.5927G>T (p.Arg1976Leu)
c.5897G>T (p.Arg1966Leu)
c.5495G>T (p.Arg1832Leu)
c.4733G>T (p.Arg1578Leu)
c.3629G>T (p.Arg1210Leu)
 dbSNP gnomAD v3 gnomAD v4
21g.46411890delCA2655023994PCNTn.162del
c.5850del (p.Phe1951SerfsTer2)
c.*5060del (n.*5060del)
c.5817del (p.Phe1940SerfsTer2)
n.6086del
c.5463del (p.Phe1822SerfsTer2)
c.5928del (p.Phe1977SerfsTer2)
c.5898del (p.Phe1967SerfsTer2)
c.5496del (p.Phe1833SerfsTer2)
c.4734del (p.Phe1579SerfsTer2)
c.3630del (p.Phe1211SerfsTer2)
 ClinVar gnomAD v4
21g.46411890G>ACA513174129PCNTn.162G>A
c.5850G>A (p.Arg1950=)
c.*5060G>A (n.*5060G>A)
c.5817G>A (p.Arg1939=)
n.6086G>A
c.5463G>A (p.Arg1821=)
c.5928G>A (p.Arg1976=)
c.5898G>A (p.Arg1966=)
c.5496G>A (p.Arg1832=)
c.4734G>A (p.Arg1578=)
c.3630G>A (p.Arg1210=)
21g.46411890G>CCA513174131PCNTn.162G>C
c.5850G>C (p.Arg1950=)
c.*5060G>C (n.*5060G>C)
c.5817G>C (p.Arg1939=)
n.6086G>C
c.5463G>C (p.Arg1821=)
c.5928G>C (p.Arg1976=)
c.5898G>C (p.Arg1966=)
c.5496G>C (p.Arg1832=)
c.4734G>C (p.Arg1578=)
c.3630G>C (p.Arg1210=)
21g.46411890G>TCA513174130PCNTn.162G>T
c.5850G>T (p.Arg1950=)
c.*5060G>T (n.*5060G>T)
c.5817G>T (p.Arg1939=)
n.6086G>T
c.5463G>T (p.Arg1821=)
c.5928G>T (p.Arg1976=)
c.5898G>T (p.Arg1966=)
c.5496G>T (p.Arg1832=)
c.4734G>T (p.Arg1578=)
c.3630G>T (p.Arg1210=)
21g.46411891T>ACA410557057PCNTn.163T>A
c.5851T>A (p.Phe1951Ile)
c.*5061T>A (n.*5061T>A)
c.5818T>A (p.Phe1940Ile)
n.6087T>A
c.5464T>A (p.Phe1822Ile)
c.5929T>A (p.Phe1977Ile)
c.5899T>A (p.Phe1967Ile)
c.5497T>A (p.Phe1833Ile)
c.4735T>A (p.Phe1579Ile)
c.3631T>A (p.Phe1211Ile)
21g.46411891T>CCA410557055PCNTn.163T>C
c.5851T>C (p.Phe1951Leu)
c.*5061T>C (n.*5061T>C)
c.5818T>C (p.Phe1940Leu)
n.6087T>C
c.5464T>C (p.Phe1822Leu)
c.5929T>C (p.Phe1977Leu)
c.5899T>C (p.Phe1967Leu)
c.5497T>C (p.Phe1833Leu)
c.4735T>C (p.Phe1579Leu)
c.3631T>C (p.Phe1211Leu)
21g.46411891T>GCA410557053PCNTn.163T>G
c.5851T>G (p.Phe1951Val)
c.*5061T>G (n.*5061T>G)
c.5818T>G (p.Phe1940Val)
n.6087T>G
c.5464T>G (p.Phe1822Val)
c.5929T>G (p.Phe1977Val)
c.5899T>G (p.Phe1967Val)
c.5497T>G (p.Phe1833Val)
c.4735T>G (p.Phe1579Val)
c.3631T>G (p.Phe1211Val)
21g.46411892T>ACA410557061PCNTn.164T>A
c.5852T>A (p.Phe1951Tyr)
c.*5062T>A (n.*5062T>A)
c.5819T>A (p.Phe1940Tyr)
n.6088T>A
c.5465T>A (p.Phe1822Tyr)
c.5930T>A (p.Phe1977Tyr)
c.5900T>A (p.Phe1967Tyr)
c.5498T>A (p.Phe1833Tyr)
c.4736T>A (p.Phe1579Tyr)
c.3632T>A (p.Phe1211Tyr)
21g.46411892T>CCA410557073PCNTn.164T>C
c.5852T>C (p.Phe1951Ser)
c.*5062T>C (n.*5062T>C)
c.5819T>C (p.Phe1940Ser)
n.6088T>C
c.5465T>C (p.Phe1822Ser)
c.5930T>C (p.Phe1977Ser)
c.5900T>C (p.Phe1967Ser)
c.5498T>C (p.Phe1833Ser)
c.4736T>C (p.Phe1579Ser)
c.3632T>C (p.Phe1211Ser)
 ClinVar dbSNP
21g.46411892T>GCA410557064PCNTn.164T>G
c.5852T>G (p.Phe1951Cys)
c.*5062T>G (n.*5062T>G)
c.5819T>G (p.Phe1940Cys)
n.6088T>G
c.5465T>G (p.Phe1822Cys)
c.5930T>G (p.Phe1977Cys)
c.5900T>G (p.Phe1967Cys)
c.5498T>G (p.Phe1833Cys)
c.4736T>G (p.Phe1579Cys)
c.3632T>G (p.Phe1211Cys)
 dbSNP gnomAD v3 gnomAD v4
21g.46411892T=CA2392665113PCNTn.164T=
c.5852T= (p.Phe1951=)
c.*5062T= (n.*5062T=)
c.5819T= (p.Phe1940=)
n.6088T=
c.5465T= (p.Phe1822=)
c.5930T= (p.Phe1977=)
c.5900T= (p.Phe1967=)
c.5498T= (p.Phe1833=)
c.4736T= (p.Phe1579=)
c.3632T= (p.Phe1211=)
21g.46411892_46411893delinsTCCA2392665112PCNTn.164_165delinsTC
c.5852_5853delinsTC (p.Phe1951=)
c.*5062_*5063delinsTC (n.*5062_*5063delinsTC)
c.5819_5820delinsTC (p.Phe1940=)
n.6088_6089delinsTC
c.5465_5466delinsTC (p.Phe1822=)
c.5930_5931delinsTC (p.Phe1977=)
c.5900_5901delinsTC (p.Phe1967=)
c.5498_5499delinsTC (p.Phe1833=)
c.4736_4737delinsTC (p.Phe1579=)
c.3632_3633delinsTC (p.Phe1211=)
21g.46411893C>ACA410557075PCNTn.165C>A
c.5853C>A (p.Phe1951Leu)
c.*5063C>A (n.*5063C>A)
c.5820C>A (p.Phe1940Leu)
n.6089C>A
c.5466C>A (p.Phe1822Leu)
c.5931C>A (p.Phe1977Leu)
c.5901C>A (p.Phe1967Leu)
c.5499C>A (p.Phe1833Leu)
c.4737C>A (p.Phe1579Leu)
c.3633C>A (p.Phe1211Leu)
 gnomAD v4
21g.46411893C=CA2392665114PCNTn.165C=
c.5853C= (p.Phe1951=)
c.*5063C= (n.*5063C=)
c.5820C= (p.Phe1940=)
n.6089C=
c.5466C= (p.Phe1822=)
c.5931C= (p.Phe1977=)
c.5901C= (p.Phe1967=)
c.5499C= (p.Phe1833=)
c.4737C= (p.Phe1579=)
c.3633C= (p.Phe1211=)
21g.46411893C>GCA410557078PCNTn.165C>G
c.5853C>G (p.Phe1951Leu)
c.*5063C>G (n.*5063C>G)
c.5820C>G (p.Phe1940Leu)
n.6089C>G
c.5466C>G (p.Phe1822Leu)
c.5931C>G (p.Phe1977Leu)
c.5901C>G (p.Phe1967Leu)
c.5499C>G (p.Phe1833Leu)
c.4737C>G (p.Phe1579Leu)
c.3633C>G (p.Phe1211Leu)
 dbSNP gnomAD v4
21g.46411893C>TCA513174135PCNTn.165C>T
c.5853C>T (p.Phe1951=)
c.*5063C>T (n.*5063C>T)
c.5820C>T (p.Phe1940=)
n.6089C>T
c.5466C>T (p.Phe1822=)
c.5931C>T (p.Phe1977=)
c.5901C>T (p.Phe1967=)
c.5499C>T (p.Phe1833=)
c.4737C>T (p.Phe1579=)
c.3633C>T (p.Phe1211=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46411894delCA10080097PCNTn.166del
c.5854del (p.Leu1952Ter)
c.*5064del (n.*5064del)
c.5821del (p.Leu1941Ter)
n.6090del
c.5467del (p.Leu1823Ter)
c.5932del (p.Leu1978Ter)
c.5902del (p.Leu1968Ter)
c.5500del (p.Leu1834Ter)
c.4738del (p.Leu1580Ter)
c.3634del (p.Leu1212Ter)
 dbSNP ExAC gnomAD v2
21g.46411894C>ACA410557079PCNTn.166C>A
c.5854C>A (p.Leu1952Met)
c.*5064C>A (n.*5064C>A)
c.5821C>A (p.Leu1941Met)
n.6090C>A
c.5467C>A (p.Leu1823Met)
c.5932C>A (p.Leu1978Met)
c.5902C>A (p.Leu1968Met)
c.5500C>A (p.Leu1834Met)
c.4738C>A (p.Leu1580Met)
c.3634C>A (p.Leu1212Met)
 gnomAD v4
21g.46411894C=CA2392665115PCNTn.166C=
c.5854C= (p.Leu1952=)
c.*5064C= (n.*5064C=)
c.5821C= (p.Leu1941=)
n.6090C=
c.5467C= (p.Leu1823=)
c.5932C= (p.Leu1978=)
c.5902C= (p.Leu1968=)
c.5500C= (p.Leu1834=)
c.4738C= (p.Leu1580=)
c.3634C= (p.Leu1212=)
21g.46411894C>GCA410557081PCNTn.166C>G
c.5854C>G (p.Leu1952Val)
c.*5064C>G (n.*5064C>G)
c.5821C>G (p.Leu1941Val)
n.6090C>G
c.5467C>G (p.Leu1823Val)
c.5932C>G (p.Leu1978Val)
c.5902C>G (p.Leu1968Val)
c.5500C>G (p.Leu1834Val)
c.4738C>G (p.Leu1580Val)
c.3634C>G (p.Leu1212Val)
21g.46411894C>TCA321998190PCNTn.166C>T
c.5854C>T (p.Leu1952=)
c.*5064C>T (n.*5064C>T)
c.5821C>T (p.Leu1941=)
n.6090C>T
c.5467C>T (p.Leu1823=)
c.5932C>T (p.Leu1978=)
c.5902C>T (p.Leu1968=)
c.5500C>T (p.Leu1834=)
c.4738C>T (p.Leu1580=)
c.3634C>T (p.Leu1212=)
 dbSNP
21g.46411895T>ACA410557084PCNTn.167T>A
c.5855T>A (p.Leu1952Gln)
c.*5065T>A (n.*5065T>A)
c.5822T>A (p.Leu1941Gln)
n.6091T>A
c.5468T>A (p.Leu1823Gln)
c.5933T>A (p.Leu1978Gln)
c.5903T>A (p.Leu1968Gln)
c.5501T>A (p.Leu1834Gln)
c.4739T>A (p.Leu1580Gln)
c.3635T>A (p.Leu1212Gln)
 gnomAD v4
21g.46411895T>CCA410557086PCNTn.167T>C
c.5855T>C (p.Leu1952Pro)
c.*5065T>C (n.*5065T>C)
c.5822T>C (p.Leu1941Pro)
n.6091T>C
c.5468T>C (p.Leu1823Pro)
c.5933T>C (p.Leu1978Pro)
c.5903T>C (p.Leu1968Pro)
c.5501T>C (p.Leu1834Pro)
c.4739T>C (p.Leu1580Pro)
c.3635T>C (p.Leu1212Pro)
 gnomAD v4
21g.46411895T>GCA410557089PCNTn.167T>G
c.5855T>G (p.Leu1952Arg)
c.*5065T>G (n.*5065T>G)
c.5822T>G (p.Leu1941Arg)
n.6091T>G
c.5468T>G (p.Leu1823Arg)
c.5933T>G (p.Leu1978Arg)
c.5903T>G (p.Leu1968Arg)
c.5501T>G (p.Leu1834Arg)
c.4739T>G (p.Leu1580Arg)
c.3635T>G (p.Leu1212Arg)
21g.46411896G>ACA513174138PCNTn.168G>A
c.5856G>A (p.Leu1952=)
c.*5066G>A (n.*5066G>A)
c.5823G>A (p.Leu1941=)
n.6092G>A
c.5469G>A (p.Leu1823=)
c.5934G>A (p.Leu1978=)
c.5904G>A (p.Leu1968=)
c.5502G>A (p.Leu1834=)
c.4740G>A (p.Leu1580=)
c.3636G>A (p.Leu1212=)
21g.46411896G>CCA513174139PCNTn.168G>C
c.5856G>C (p.Leu1952=)
c.*5066G>C (n.*5066G>C)
c.5823G>C (p.Leu1941=)
n.6092G>C
c.5469G>C (p.Leu1823=)
c.5934G>C (p.Leu1978=)
c.5904G>C (p.Leu1968=)
c.5502G>C (p.Leu1834=)
c.4740G>C (p.Leu1580=)
c.3636G>C (p.Leu1212=)
21g.46411896G>TCA513174140PCNTn.168G>T
c.5856G>T (p.Leu1952=)
c.*5066G>T (n.*5066G>T)
c.5823G>T (p.Leu1941=)
n.6092G>T
c.5469G>T (p.Leu1823=)
c.5934G>T (p.Leu1978=)
c.5904G>T (p.Leu1968=)
c.5502G>T (p.Leu1834=)
c.4740G>T (p.Leu1580=)
c.3636G>T (p.Leu1212=)
 gnomAD v4
21g.46411897A=CA2392665116PCNTn.169A=
c.5857A= (p.Arg1953=)
c.*5067A= (n.*5067A=)
c.5824A= (p.Arg1942=)
n.6093A=
c.5470A= (p.Arg1824=)
c.5935A= (p.Arg1979=)
c.5905A= (p.Arg1969=)
c.5503A= (p.Arg1835=)
c.4741A= (p.Arg1581=)
c.3637A= (p.Arg1213=)
21g.46411897A>CCA513174141PCNTn.169A>C
c.5857A>C (p.Arg1953=)
c.*5067A>C (n.*5067A>C)
c.5824A>C (p.Arg1942=)
n.6093A>C
c.5470A>C (p.Arg1824=)
c.5935A>C (p.Arg1979=)
c.5905A>C (p.Arg1969=)
c.5503A>C (p.Arg1835=)
c.4741A>C (p.Arg1581=)
c.3637A>C (p.Arg1213=)
21g.46411897A>GCA410557090PCNTn.169A>G
c.5857A>G (p.Arg1953Gly)
c.*5067A>G (n.*5067A>G)
c.5824A>G (p.Arg1942Gly)
n.6093A>G
c.5470A>G (p.Arg1824Gly)
c.5935A>G (p.Arg1979Gly)
c.5905A>G (p.Arg1969Gly)
c.5503A>G (p.Arg1835Gly)
c.4741A>G (p.Arg1581Gly)
c.3637A>G (p.Arg1213Gly)
 dbSNP gnomAD v2 gnomAD v4
21g.46411897A>TCA410557091PCNTn.169A>T
c.5857A>T (p.Arg1953Trp)
c.*5067A>T (n.*5067A>T)
c.5824A>T (p.Arg1942Trp)
n.6093A>T
c.5470A>T (p.Arg1824Trp)
c.5935A>T (p.Arg1979Trp)
c.5905A>T (p.Arg1969Trp)
c.5503A>T (p.Arg1835Trp)
c.4741A>T (p.Arg1581Trp)
c.3637A>T (p.Arg1213Trp)
 gnomAD v4
21g.46411898G>ACA410557094PCNTn.170G>A
c.5858G>A (p.Arg1953Lys)
c.*5068G>A (n.*5068G>A)
c.5825G>A (p.Arg1942Lys)
n.6094G>A
c.5471G>A (p.Arg1824Lys)
c.5936G>A (p.Arg1979Lys)
c.5906G>A (p.Arg1969Lys)
c.5504G>A (p.Arg1835Lys)
c.4742G>A (p.Arg1581Lys)
c.3638G>A (p.Arg1213Lys)
 gnomAD v4
21g.46411898G>CCA410557097PCNTn.170G>C
c.5858G>C (p.Arg1953Thr)
c.*5068G>C (n.*5068G>C)
c.5825G>C (p.Arg1942Thr)
n.6094G>C
c.5471G>C (p.Arg1824Thr)
c.5936G>C (p.Arg1979Thr)
c.5906G>C (p.Arg1969Thr)
c.5504G>C (p.Arg1835Thr)
c.4742G>C (p.Arg1581Thr)
c.3638G>C (p.Arg1213Thr)
21g.46411898G>TCA410557099PCNTn.170G>T
c.5858G>T (p.Arg1953Met)
c.*5068G>T (n.*5068G>T)
c.5825G>T (p.Arg1942Met)
n.6094G>T
c.5471G>T (p.Arg1824Met)
c.5936G>T (p.Arg1979Met)
c.5906G>T (p.Arg1969Met)
c.5504G>T (p.Arg1835Met)
c.4742G>T (p.Arg1581Met)
c.3638G>T (p.Arg1213Met)
 gnomAD v4
21g.46411899G>ACA10080098PCNTn.171G>A
c.5859G>A (p.Arg1953=)
c.*5069G>A (n.*5069G>A)
c.5826G>A (p.Arg1942=)
n.6095G>A
c.5472G>A (p.Arg1824=)
c.5937G>A (p.Arg1979=)
c.5907G>A (p.Arg1969=)
c.5505G>A (p.Arg1835=)
c.4743G>A (p.Arg1581=)
c.3639G>A (p.Arg1213=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411899G>CCA410557100PCNTn.171G>C
c.5859G>C (p.Arg1953Ser)
c.*5069G>C (n.*5069G>C)
c.5826G>C (p.Arg1942Ser)
n.6095G>C
c.5472G>C (p.Arg1824Ser)
c.5937G>C (p.Arg1979Ser)
c.5907G>C (p.Arg1969Ser)
c.5505G>C (p.Arg1835Ser)
c.4743G>C (p.Arg1581Ser)
c.3639G>C (p.Arg1213Ser)
21g.46411899G=CA2392665117PCNTn.171G=
c.5859G= (p.Arg1953=)
c.*5069G= (n.*5069G=)
c.5826G= (p.Arg1942=)
n.6095G=
c.5472G= (p.Arg1824=)
c.5937G= (p.Arg1979=)
c.5907G= (p.Arg1969=)
c.5505G= (p.Arg1835=)
c.4743G= (p.Arg1581=)
c.3639G= (p.Arg1213=)
21g.46411899G>TCA410557101PCNTn.171G>T
c.5859G>T (p.Arg1953Ser)
c.*5069G>T (n.*5069G>T)
c.5826G>T (p.Arg1942Ser)
n.6095G>T
c.5472G>T (p.Arg1824Ser)
c.5937G>T (p.Arg1979Ser)
c.5907G>T (p.Arg1969Ser)
c.5505G>T (p.Arg1835Ser)
c.4743G>T (p.Arg1581Ser)
c.3639G>T (p.Arg1213Ser)
21g.46411900T>ACA410557106PCNTn.172T>A
c.1T>A (p.Cys1Ser)
n.1T>A
c.5860T>A (p.Cys1954Ser)
c.*5070T>A (n.*5070T>A)
c.5827T>A (p.Cys1943Ser)
n.6096T>A
c.5473T>A (p.Cys1825Ser)
c.5938T>A (p.Cys1980Ser)
c.5908T>A (p.Cys1970Ser)
c.5506T>A (p.Cys1836Ser)
c.4744T>A (p.Cys1582Ser)
c.3640T>A (p.Cys1214Ser)
21g.46411900T>CCA410557105PCNTn.172T>C
c.1T>C (p.Cys1Arg)
n.1T>C
c.5860T>C (p.Cys1954Arg)
c.*5070T>C (n.*5070T>C)
c.5827T>C (p.Cys1943Arg)
n.6096T>C
c.5473T>C (p.Cys1825Arg)
c.5938T>C (p.Cys1980Arg)
c.5908T>C (p.Cys1970Arg)
c.5506T>C (p.Cys1836Arg)
c.4744T>C (p.Cys1582Arg)
c.3640T>C (p.Cys1214Arg)
 gnomAD v4
21g.46411900T>GCA410557103PCNTn.172T>G
c.1T>G (p.Cys1Gly)
n.1T>G
c.5860T>G (p.Cys1954Gly)
c.*5070T>G (n.*5070T>G)
c.5827T>G (p.Cys1943Gly)
n.6096T>G
c.5473T>G (p.Cys1825Gly)
c.5938T>G (p.Cys1980Gly)
c.5908T>G (p.Cys1970Gly)
c.5506T>G (p.Cys1836Gly)
c.4744T>G (p.Cys1582Gly)
c.3640T>G (p.Cys1214Gly)
21g.46411901G>ACA410557109PCNTn.173G>A
c.2G>A (p.Cys1Tyr)
n.2G>A
c.5861G>A (p.Cys1954Tyr)
c.*5071G>A (n.*5071G>A)
c.5828G>A (p.Cys1943Tyr)
n.6097G>A
c.5474G>A (p.Cys1825Tyr)
c.5939G>A (p.Cys1980Tyr)
c.5909G>A (p.Cys1970Tyr)
c.5507G>A (p.Cys1836Tyr)
c.4745G>A (p.Cys1582Tyr)
c.3641G>A (p.Cys1214Tyr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
21g.46411901G>CCA410557110PCNTn.173G>C
c.2G>C (p.Cys1Ser)
n.2G>C
c.5861G>C (p.Cys1954Ser)
c.*5071G>C (n.*5071G>C)
c.5828G>C (p.Cys1943Ser)
n.6097G>C
c.5474G>C (p.Cys1825Ser)
c.5939G>C (p.Cys1980Ser)
c.5909G>C (p.Cys1970Ser)
c.5507G>C (p.Cys1836Ser)
c.4745G>C (p.Cys1582Ser)
c.3641G>C (p.Cys1214Ser)
21g.46411901G=CA2392665118PCNTn.173G=
c.2G= (p.Cys1=)
n.2G=
c.5861G= (p.Cys1954=)
c.*5071G= (n.*5071G=)
c.5828G= (p.Cys1943=)
n.6097G=
c.5474G= (p.Cys1825=)
c.5939G= (p.Cys1980=)
c.5909G= (p.Cys1970=)
c.5507G= (p.Cys1836=)
c.4745G= (p.Cys1582=)
c.3641G= (p.Cys1214=)
21g.46411901G>TCA410557111PCNTn.173G>T
c.2G>T (p.Cys1Phe)
n.2G>T
c.5861G>T (p.Cys1954Phe)
c.*5071G>T (n.*5071G>T)
c.5828G>T (p.Cys1943Phe)
n.6097G>T
c.5474G>T (p.Cys1825Phe)
c.5939G>T (p.Cys1980Phe)
c.5909G>T (p.Cys1970Phe)
c.5507G>T (p.Cys1836Phe)
c.4745G>T (p.Cys1582Phe)
c.3641G>T (p.Cys1214Phe)
 gnomAD v4
21g.46411902C>ACA410557112PCNTn.174C>A
c.3C>A (p.Cys1Ter)
n.3C>A
c.5862C>A (p.Cys1954Ter)
c.*5072C>A (n.*5072C>A)
c.5829C>A (p.Cys1943Ter)
n.6098C>A
c.5475C>A (p.Cys1825Ter)
c.5940C>A (p.Cys1980Ter)
c.5910C>A (p.Cys1970Ter)
c.5508C>A (p.Cys1836Ter)
c.4746C>A (p.Cys1582Ter)
c.3642C>A (p.Cys1214Ter)
 gnomAD v4
21g.46411902C=CA2392665119PCNTn.174C=
c.3C= (p.Cys1=)
n.3C=
c.5862C= (p.Cys1954=)
c.*5072C= (n.*5072C=)
c.5829C= (p.Cys1943=)
n.6098C=
c.5475C= (p.Cys1825=)
c.5940C= (p.Cys1980=)
c.5910C= (p.Cys1970=)
c.5508C= (p.Cys1836=)
c.4746C= (p.Cys1582=)
c.3642C= (p.Cys1214=)
21g.46411902C>GCA410557114PCNTn.174C>G
c.3C>G (p.Cys1Trp)
n.3C>G
c.5862C>G (p.Cys1954Trp)
c.*5072C>G (n.*5072C>G)
c.5829C>G (p.Cys1943Trp)
n.6098C>G
c.5475C>G (p.Cys1825Trp)
c.5940C>G (p.Cys1980Trp)
c.5910C>G (p.Cys1970Trp)
c.5508C>G (p.Cys1836Trp)
c.4746C>G (p.Cys1582Trp)
c.3642C>G (p.Cys1214Trp)
21g.46411902C>TCA321998194PCNTn.174C>T
c.3C>T (p.Cys1=)
n.3C>T
c.5862C>T (p.Cys1954=)
c.*5072C>T (n.*5072C>T)
c.5829C>T (p.Cys1943=)
n.6098C>T
c.5475C>T (p.Cys1825=)
c.5940C>T (p.Cys1980=)
c.5910C>T (p.Cys1970=)
c.5508C>T (p.Cys1836=)
c.4746C>T (p.Cys1582=)
c.3642C>T (p.Cys1214=)
 ClinVar dbSNP gnomAD v4
21g.46411903C>ACA410557117PCNTn.175C>A
c.4C>A (p.Gln2Lys)
n.4C>A
c.5863C>A (p.Gln1955Lys)
c.*5073C>A (n.*5073C>A)
c.5830C>A (p.Gln1944Lys)
n.6099C>A
c.5476C>A (p.Gln1826Lys)
c.5941C>A (p.Gln1981Lys)
c.5911C>A (p.Gln1971Lys)
c.5509C>A (p.Gln1837Lys)
c.4747C>A (p.Gln1583Lys)
c.3643C>A (p.Gln1215Lys)
21g.46411903C>GCA410557118PCNTn.175C>G
c.4C>G (p.Gln2Glu)
n.4C>G
c.5863C>G (p.Gln1955Glu)
c.*5073C>G (n.*5073C>G)
c.5830C>G (p.Gln1944Glu)
n.6099C>G
c.5476C>G (p.Gln1826Glu)
c.5941C>G (p.Gln1981Glu)
c.5911C>G (p.Gln1971Glu)
c.5509C>G (p.Gln1837Glu)
c.4747C>G (p.Gln1583Glu)
c.3643C>G (p.Gln1215Glu)
21g.46411903C>TCA410557119PCNTn.175C>T
c.4C>T (p.Gln2Ter)
n.4C>T
c.5863C>T (p.Gln1955Ter)
c.*5073C>T (n.*5073C>T)
c.5830C>T (p.Gln1944Ter)
n.6099C>T
c.5476C>T (p.Gln1826Ter)
c.5941C>T (p.Gln1981Ter)
c.5911C>T (p.Gln1971Ter)
c.5509C>T (p.Gln1837Ter)
c.4747C>T (p.Gln1583Ter)
c.3643C>T (p.Gln1215Ter)
 gnomAD v4
21g.46411904A=CA2392665120PCNTn.176A=
c.5A= (p.Gln2=)
n.5A=
c.5864A= (p.Gln1955=)
c.*5074A= (n.*5074A=)
c.5831A= (p.Gln1944=)
n.6100A=
c.5477A= (p.Gln1826=)
c.5942A= (p.Gln1981=)
c.5912A= (p.Gln1971=)
c.5510A= (p.Gln1837=)
c.4748A= (p.Gln1583=)
c.3644A= (p.Gln1215=)
21g.46411904A>CCA410557121PCNTn.176A>C
c.5A>C (p.Gln2Pro)
n.5A>C
c.5864A>C (p.Gln1955Pro)
c.*5074A>C (n.*5074A>C)
c.5831A>C (p.Gln1944Pro)
n.6100A>C
c.5477A>C (p.Gln1826Pro)
c.5942A>C (p.Gln1981Pro)
c.5912A>C (p.Gln1971Pro)
c.5510A>C (p.Gln1837Pro)
c.4748A>C (p.Gln1583Pro)
c.3644A>C (p.Gln1215Pro)
 dbSNP
21g.46411904A>GCA410557124PCNTn.176A>G
c.5A>G (p.Gln2Arg)
n.5A>G
c.5864A>G (p.Gln1955Arg)
c.*5074A>G (n.*5074A>G)
c.5831A>G (p.Gln1944Arg)
n.6100A>G
c.5477A>G (p.Gln1826Arg)
c.5942A>G (p.Gln1981Arg)
c.5912A>G (p.Gln1971Arg)
c.5510A>G (p.Gln1837Arg)
c.4748A>G (p.Gln1583Arg)
c.3644A>G (p.Gln1215Arg)
 gnomAD v4
21g.46411904A>TCA410557138PCNTn.176A>T
c.5A>T (p.Gln2Leu)
n.5A>T
c.5864A>T (p.Gln1955Leu)
c.*5074A>T (n.*5074A>T)
c.5831A>T (p.Gln1944Leu)
n.6100A>T
c.5477A>T (p.Gln1826Leu)
c.5942A>T (p.Gln1981Leu)
c.5912A>T (p.Gln1971Leu)
c.5510A>T (p.Gln1837Leu)
c.4748A>T (p.Gln1583Leu)
c.3644A>T (p.Gln1215Leu)
21g.46411905G>ACA513174146PCNTn.177G>A
c.6G>A (p.Gln2=)
n.6G>A
c.5865G>A (p.Gln1955=)
c.*5075G>A (n.*5075G>A)
c.5832G>A (p.Gln1944=)
n.6101G>A
c.5478G>A (p.Gln1826=)
c.5943G>A (p.Gln1981=)
c.5913G>A (p.Gln1971=)
c.5511G>A (p.Gln1837=)
c.4749G>A (p.Gln1583=)
c.3645G>A (p.Gln1215=)
 gnomAD v4
21g.46411905G>CCA410557141PCNTn.177G>C
c.6G>C (p.Gln2His)
n.6G>C
c.5865G>C (p.Gln1955His)
c.*5075G>C (n.*5075G>C)
c.5832G>C (p.Gln1944His)
n.6101G>C
c.5478G>C (p.Gln1826His)
c.5943G>C (p.Gln1981His)
c.5913G>C (p.Gln1971His)
c.5511G>C (p.Gln1837His)
c.4749G>C (p.Gln1583His)
c.3645G>C (p.Gln1215His)
 dbSNP gnomAD v2 gnomAD v4
21g.46411905G=CA2392665121PCNTn.177G=
c.6G= (p.Gln2=)
n.6G=
c.5865G= (p.Gln1955=)
c.*5075G= (n.*5075G=)
c.5832G= (p.Gln1944=)
n.6101G=
c.5478G= (p.Gln1826=)
c.5943G= (p.Gln1981=)
c.5913G= (p.Gln1971=)
c.5511G= (p.Gln1837=)
c.4749G= (p.Gln1583=)
c.3645G= (p.Gln1215=)
21g.46411905G>TCA410557144PCNTn.177G>T
c.6G>T (p.Gln2His)
n.6G>T
c.5865G>T (p.Gln1955His)
c.*5075G>T (n.*5075G>T)
c.5832G>T (p.Gln1944His)
n.6101G>T
c.5478G>T (p.Gln1826His)
c.5943G>T (p.Gln1981His)
c.5913G>T (p.Gln1971His)
c.5511G>T (p.Gln1837His)
c.4749G>T (p.Gln1583His)
c.3645G>T (p.Gln1215His)
 gnomAD v4
21g.46411906G>ACA410557149PCNTn.178G>A
c.7G>A (p.Val3Met)
n.7G>A
c.5866G>A (p.Val1956Met)
c.*5076G>A (n.*5076G>A)
c.5833G>A (p.Val1945Met)
n.6102G>A
c.5479G>A (p.Val1827Met)
c.5944G>A (p.Val1982Met)
c.5914G>A (p.Val1972Met)
c.5512G>A (p.Val1838Met)
c.4750G>A (p.Val1584Met)
c.3646G>A (p.Val1216Met)
 gnomAD v4
21g.46411906G>CCA410557151PCNTn.178G>C
c.7G>C (p.Val3Leu)
n.7G>C
c.5866G>C (p.Val1956Leu)
c.*5076G>C (n.*5076G>C)
c.5833G>C (p.Val1945Leu)
n.6102G>C
c.5479G>C (p.Val1827Leu)
c.5944G>C (p.Val1982Leu)
c.5914G>C (p.Val1972Leu)
c.5512G>C (p.Val1838Leu)
c.4750G>C (p.Val1584Leu)
c.3646G>C (p.Val1216Leu)
21g.46411906G>TCA410557146PCNTn.178G>T
c.7G>T (p.Val3Leu)
n.7G>T
c.5866G>T (p.Val1956Leu)
c.*5076G>T (n.*5076G>T)
c.5833G>T (p.Val1945Leu)
n.6102G>T
c.5479G>T (p.Val1827Leu)
c.5944G>T (p.Val1982Leu)
c.5914G>T (p.Val1972Leu)
c.5512G>T (p.Val1838Leu)
c.4750G>T (p.Val1584Leu)
c.3646G>T (p.Val1216Leu)
 gnomAD v4
21g.46411907T>ACA410557156PCNTn.179T>A
c.8T>A (p.Val3Glu)
n.8T>A
c.5867T>A (p.Val1956Glu)
c.*5077T>A (n.*5077T>A)
c.5834T>A (p.Val1945Glu)
n.6103T>A
c.5480T>A (p.Val1827Glu)
c.5945T>A (p.Val1982Glu)
c.5915T>A (p.Val1972Glu)
c.5513T>A (p.Val1838Glu)
c.4751T>A (p.Val1584Glu)
c.3647T>A (p.Val1216Glu)
21g.46411907T>CCA410557158PCNTn.179T>C
c.8T>C (p.Val3Ala)
n.8T>C
c.5867T>C (p.Val1956Ala)
c.*5077T>C (n.*5077T>C)
c.5834T>C (p.Val1945Ala)
n.6103T>C
c.5480T>C (p.Val1827Ala)
c.5945T>C (p.Val1982Ala)
c.5915T>C (p.Val1972Ala)
c.5513T>C (p.Val1838Ala)
c.4751T>C (p.Val1584Ala)
c.3647T>C (p.Val1216Ala)
21g.46411907T>GCA410557161PCNTn.179T>G
c.8T>G (p.Val3Gly)
n.8T>G
c.5867T>G (p.Val1956Gly)
c.*5077T>G (n.*5077T>G)
c.5834T>G (p.Val1945Gly)
n.6103T>G
c.5480T>G (p.Val1827Gly)
c.5945T>G (p.Val1982Gly)
c.5915T>G (p.Val1972Gly)
c.5513T>G (p.Val1838Gly)
c.4751T>G (p.Val1584Gly)
c.3647T>G (p.Val1216Gly)
21g.46411908G>ACA321998196PCNTn.180G>A
c.9G>A (p.Val3=)
n.9G>A
c.5868G>A (p.Val1956=)
c.*5078G>A (n.*5078G>A)
c.5835G>A (p.Val1945=)
n.6104G>A
c.5481G>A (p.Val1827=)
c.5946G>A (p.Val1982=)
c.5916G>A (p.Val1972=)
c.5514G>A (p.Val1838=)
c.4752G>A (p.Val1584=)
c.3648G>A (p.Val1216=)
 dbSNP gnomAD v3 gnomAD v4
21g.46411908G>CCA513174147PCNTn.180G>C
c.9G>C (p.Val3=)
n.9G>C
c.5868G>C (p.Val1956=)
c.*5078G>C (n.*5078G>C)
c.5835G>C (p.Val1945=)
n.6104G>C
c.5481G>C (p.Val1827=)
c.5946G>C (p.Val1982=)
c.5916G>C (p.Val1972=)
c.5514G>C (p.Val1838=)
c.4752G>C (p.Val1584=)
c.3648G>C (p.Val1216=)
21g.46411908G=CA2392665122PCNTn.180G=
c.9G= (p.Val3=)
n.9G=
c.5868G= (p.Val1956=)
c.*5078G= (n.*5078G=)
c.5835G= (p.Val1945=)
n.6104G=
c.5481G= (p.Val1827=)
c.5946G= (p.Val1982=)
c.5916G= (p.Val1972=)
c.5514G= (p.Val1838=)
c.4752G= (p.Val1584=)
c.3648G= (p.Val1216=)
21g.46411908G>TCA513174148PCNTn.180G>T
c.9G>T (p.Val3=)
n.9G>T
c.5868G>T (p.Val1956=)
c.*5078G>T (n.*5078G>T)
c.5835G>T (p.Val1945=)
n.6104G>T
c.5481G>T (p.Val1827=)
c.5946G>T (p.Val1982=)
c.5916G>T (p.Val1972=)
c.5514G>T (p.Val1838=)
c.4752G>T (p.Val1584=)
c.3648G>T (p.Val1216=)
21g.46411909G>ACA410557164PCNTn.181G>A
c.10G>A (p.Glu4Lys)
n.10G>A
c.5869G>A (p.Glu1957Lys)
c.*5079G>A (n.*5079G>A)
c.5836G>A (p.Glu1946Lys)
n.6105G>A
c.5482G>A (p.Glu1828Lys)
c.5947G>A (p.Glu1983Lys)
c.5917G>A (p.Glu1973Lys)
c.5515G>A (p.Glu1839Lys)
c.4753G>A (p.Glu1585Lys)
c.3649G>A (p.Glu1217Lys)
 gnomAD v4
21g.46411909G>CCA410557166PCNTn.181G>C
c.10G>C (p.Glu4Gln)
n.10G>C
c.5869G>C (p.Glu1957Gln)
c.*5079G>C (n.*5079G>C)
c.5836G>C (p.Glu1946Gln)
n.6105G>C
c.5482G>C (p.Glu1828Gln)
c.5947G>C (p.Glu1983Gln)
c.5917G>C (p.Glu1973Gln)
c.5515G>C (p.Glu1839Gln)
c.4753G>C (p.Glu1585Gln)
c.3649G>C (p.Glu1217Gln)
21g.46411909G>TCA410557170PCNTn.181G>T
c.10G>T (p.Glu4Ter)
n.10G>T
c.5869G>T (p.Glu1957Ter)
c.*5079G>T (n.*5079G>T)
c.5836G>T (p.Glu1946Ter)
n.6105G>T
c.5482G>T (p.Glu1828Ter)
c.5947G>T (p.Glu1983Ter)
c.5917G>T (p.Glu1973Ter)
c.5515G>T (p.Glu1839Ter)
c.4753G>T (p.Glu1585Ter)
c.3649G>T (p.Glu1217Ter)
21g.46411910A>CCA410557179PCNTn.182A>C
c.11A>C (p.Glu4Ala)
n.11A>C
c.5870A>C (p.Glu1957Ala)
c.*5080A>C (n.*5080A>C)
c.5837A>C (p.Glu1946Ala)
n.6106A>C
c.5483A>C (p.Glu1828Ala)
c.5948A>C (p.Glu1983Ala)
c.5918A>C (p.Glu1973Ala)
c.5516A>C (p.Glu1839Ala)
c.4754A>C (p.Glu1585Ala)
c.3650A>C (p.Glu1217Ala)
21g.46411910A>GCA410557174PCNTn.182A>G
c.11A>G (p.Glu4Gly)
n.11A>G
c.5870A>G (p.Glu1957Gly)
c.*5080A>G (n.*5080A>G)
c.5837A>G (p.Glu1946Gly)
n.6106A>G
c.5483A>G (p.Glu1828Gly)
c.5948A>G (p.Glu1983Gly)
c.5918A>G (p.Glu1973Gly)
c.5516A>G (p.Glu1839Gly)
c.4754A>G (p.Glu1585Gly)
c.3650A>G (p.Glu1217Gly)
 gnomAD v4
21g.46411910A>TCA410557176PCNTn.182A>T
c.11A>T (p.Glu4Val)
n.11A>T
c.5870A>T (p.Glu1957Val)
c.*5080A>T (n.*5080A>T)
c.5837A>T (p.Glu1946Val)
n.6106A>T
c.5483A>T (p.Glu1828Val)
c.5948A>T (p.Glu1983Val)
c.5918A>T (p.Glu1973Val)
c.5516A>T (p.Glu1839Val)
c.4754A>T (p.Glu1585Val)
c.3650A>T (p.Glu1217Val)
21g.46411911G>ACA513174150PCNTn.183G>A
c.12G>A (p.Glu4=)
n.12G>A
c.5871G>A (p.Glu1957=)
c.*5081G>A (n.*5081G>A)
c.5838G>A (p.Glu1946=)
n.6107G>A
c.5484G>A (p.Glu1828=)
c.5949G>A (p.Glu1983=)
c.5919G>A (p.Glu1973=)
c.5517G>A (p.Glu1839=)
c.4755G>A (p.Glu1585=)
c.3651G>A (p.Glu1217=)
 gnomAD v4
21g.46411911G>CCA410557187PCNTn.183G>C
c.12G>C (p.Glu4Asp)
n.12G>C
c.5871G>C (p.Glu1957Asp)
c.*5081G>C (n.*5081G>C)
c.5838G>C (p.Glu1946Asp)
n.6107G>C
c.5484G>C (p.Glu1828Asp)
c.5949G>C (p.Glu1983Asp)
c.5919G>C (p.Glu1973Asp)
c.5517G>C (p.Glu1839Asp)
c.4755G>C (p.Glu1585Asp)
c.3651G>C (p.Glu1217Asp)
 gnomAD v4
21g.46411911G>TCA410557188PCNTn.183G>T
c.12G>T (p.Glu4Asp)
n.12G>T
c.5871G>T (p.Glu1957Asp)
c.*5081G>T (n.*5081G>T)
c.5838G>T (p.Glu1946Asp)
n.6107G>T
c.5484G>T (p.Glu1828Asp)
c.5949G>T (p.Glu1983Asp)
c.5919G>T (p.Glu1973Asp)
c.5517G>T (p.Glu1839Asp)
c.4755G>T (p.Glu1585Asp)
c.3651G>T (p.Glu1217Asp)
 gnomAD v4
21g.46411912C>ACA321998199PCNTn.184C>A
c.13C>A (p.Leu5Met)
n.13C>A
c.5872C>A (p.Leu1958Met)
c.*5082C>A (n.*5082C>A)
c.5839C>A (p.Leu1947Met)
n.6108C>A
c.5485C>A (p.Leu1829Met)
c.5950C>A (p.Leu1984Met)
c.5920C>A (p.Leu1974Met)
c.5518C>A (p.Leu1840Met)
c.4756C>A (p.Leu1586Met)
c.3652C>A (p.Leu1218Met)
 dbSNP gnomAD v3 gnomAD v4
21g.46411912C=CA2392665123PCNTn.184C=
c.13C= (p.Leu5=)
n.13C=
c.5872C= (p.Leu1958=)
c.*5082C= (n.*5082C=)
c.5839C= (p.Leu1947=)
n.6108C=
c.5485C= (p.Leu1829=)
c.5950C= (p.Leu1984=)
c.5920C= (p.Leu1974=)
c.5518C= (p.Leu1840=)
c.4756C= (p.Leu1586=)
c.3652C= (p.Leu1218=)
21g.46411912C>GCA410557189PCNTn.184C>G
c.13C>G (p.Leu5Val)
n.13C>G
c.5872C>G (p.Leu1958Val)
c.*5082C>G (n.*5082C>G)
c.5839C>G (p.Leu1947Val)
n.6108C>G
c.5485C>G (p.Leu1829Val)
c.5950C>G (p.Leu1984Val)
c.5920C>G (p.Leu1974Val)
c.5518C>G (p.Leu1840Val)
c.4756C>G (p.Leu1586Val)
c.3652C>G (p.Leu1218Val)
 dbSNP
21g.46411912C>TCA10080099PCNTn.184C>T
c.13C>T (p.Leu5=)
n.13C>T
c.5872C>T (p.Leu1958=)
c.*5082C>T (n.*5082C>T)
c.5839C>T (p.Leu1947=)
n.6108C>T
c.5485C>T (p.Leu1829=)
c.5950C>T (p.Leu1984=)
c.5920C>T (p.Leu1974=)
c.5518C>T (p.Leu1840=)
c.4756C>T (p.Leu1586=)
c.3652C>T (p.Leu1218=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411913T>ACA410557193PCNTn.185T>A
c.14T>A (p.Leu5Gln)
n.14T>A
c.5873T>A (p.Leu1958Gln)
c.*5083T>A (n.*5083T>A)
c.5840T>A (p.Leu1947Gln)
n.6109T>A
c.5486T>A (p.Leu1829Gln)
c.5951T>A (p.Leu1984Gln)
c.5921T>A (p.Leu1974Gln)
c.5519T>A (p.Leu1840Gln)
c.4757T>A (p.Leu1586Gln)
c.3653T>A (p.Leu1218Gln)
21g.46411913T>CCA410557197PCNTn.185T>C
c.14T>C (p.Leu5Pro)
n.14T>C
c.5873T>C (p.Leu1958Pro)
c.*5083T>C (n.*5083T>C)
c.5840T>C (p.Leu1947Pro)
n.6109T>C
c.5486T>C (p.Leu1829Pro)
c.5951T>C (p.Leu1984Pro)
c.5921T>C (p.Leu1974Pro)
c.5519T>C (p.Leu1840Pro)
c.4757T>C (p.Leu1586Pro)
c.3653T>C (p.Leu1218Pro)
 gnomAD v4
21g.46411913T>GCA410557194PCNTn.185T>G
c.14T>G (p.Leu5Arg)
n.14T>G
c.5873T>G (p.Leu1958Arg)
c.*5083T>G (n.*5083T>G)
c.5840T>G (p.Leu1947Arg)
n.6109T>G
c.5486T>G (p.Leu1829Arg)
c.5951T>G (p.Leu1984Arg)
c.5921T>G (p.Leu1974Arg)
c.5519T>G (p.Leu1840Arg)
c.4757T>G (p.Leu1586Arg)
c.3653T>G (p.Leu1218Arg)
21g.46411914G>ACA513174152PCNTn.186G>A
c.15G>A (p.Leu5=)
n.15G>A
c.5874G>A (p.Leu1958=)
c.*5084G>A (n.*5084G>A)
c.5841G>A (p.Leu1947=)
n.6110G>A
c.5487G>A (p.Leu1829=)
c.5952G>A (p.Leu1984=)
c.5922G>A (p.Leu1974=)
c.5520G>A (p.Leu1840=)
c.4758G>A (p.Leu1586=)
c.3654G>A (p.Leu1218=)
 gnomAD v4
21g.46411914G>CCA513174153PCNTn.186G>C
c.15G>C (p.Leu5=)
n.15G>C
c.5874G>C (p.Leu1958=)
c.*5084G>C (n.*5084G>C)
c.5841G>C (p.Leu1947=)
n.6110G>C
c.5487G>C (p.Leu1829=)
c.5952G>C (p.Leu1984=)
c.5922G>C (p.Leu1974=)
c.5520G>C (p.Leu1840=)
c.4758G>C (p.Leu1586=)
c.3654G>C (p.Leu1218=)
21g.46411914G>TCA513174154PCNTn.186G>T
c.15G>T (p.Leu5=)
n.15G>T
c.5874G>T (p.Leu1958=)
c.*5084G>T (n.*5084G>T)
c.5841G>T (p.Leu1947=)
n.6110G>T
c.5487G>T (p.Leu1829=)
c.5952G>T (p.Leu1984=)
c.5922G>T (p.Leu1974=)
c.5520G>T (p.Leu1840=)
c.4758G>T (p.Leu1586=)
c.3654G>T (p.Leu1218=)
 gnomAD v4
21g.46411915G>ACA410557199PCNTn.187G>A
c.16G>A (p.Asp6Asn)
n.16G>A
c.5875G>A (p.Asp1959Asn)
c.*5085G>A (n.*5085G>A)
c.5842G>A (p.Asp1948Asn)
n.6111G>A
c.5488G>A (p.Asp1830Asn)
c.5953G>A (p.Asp1985Asn)
c.5923G>A (p.Asp1975Asn)
c.5521G>A (p.Asp1841Asn)
c.4759G>A (p.Asp1587Asn)
c.3655G>A (p.Asp1219Asn)
21g.46411915G>CCA410557202PCNTn.187G>C
c.16G>C (p.Asp6His)
n.16G>C
c.5875G>C (p.Asp1959His)
c.*5085G>C (n.*5085G>C)
c.5842G>C (p.Asp1948His)
n.6111G>C
c.5488G>C (p.Asp1830His)
c.5953G>C (p.Asp1985His)
c.5923G>C (p.Asp1975His)
c.5521G>C (p.Asp1841His)
c.4759G>C (p.Asp1587His)
c.3655G>C (p.Asp1219His)
21g.46411915G>TCA410557203PCNTn.187G>T
c.16G>T (p.Asp6Tyr)
n.16G>T
c.5875G>T (p.Asp1959Tyr)
c.*5085G>T (n.*5085G>T)
c.5842G>T (p.Asp1948Tyr)
n.6111G>T
c.5488G>T (p.Asp1830Tyr)
c.5953G>T (p.Asp1985Tyr)
c.5923G>T (p.Asp1975Tyr)
c.5521G>T (p.Asp1841Tyr)
c.4759G>T (p.Asp1587Tyr)
c.3655G>T (p.Asp1219Tyr)
 gnomAD v4
21g.46411916A>CCA410557209PCNTn.188A>C
c.17A>C (p.Asp6Ala)
n.17A>C
c.5876A>C (p.Asp1959Ala)
c.*5086A>C (n.*5086A>C)
c.5843A>C (p.Asp1948Ala)
n.6112A>C
c.5489A>C (p.Asp1830Ala)
c.5954A>C (p.Asp1985Ala)
c.5924A>C (p.Asp1975Ala)
c.5522A>C (p.Asp1841Ala)
c.4760A>C (p.Asp1587Ala)
c.3656A>C (p.Asp1219Ala)
21g.46411916A>GCA410557212PCNTn.188A>G
c.17A>G (p.Asp6Gly)
n.17A>G
c.5876A>G (p.Asp1959Gly)
c.*5086A>G (n.*5086A>G)
c.5843A>G (p.Asp1948Gly)
n.6112A>G
c.5489A>G (p.Asp1830Gly)
c.5954A>G (p.Asp1985Gly)
c.5924A>G (p.Asp1975Gly)
c.5522A>G (p.Asp1841Gly)
c.4760A>G (p.Asp1587Gly)
c.3656A>G (p.Asp1219Gly)
 gnomAD v4
21g.46411916A>TCA410557214PCNTn.188A>T
c.17A>T (p.Asp6Val)
n.17A>T
c.5876A>T (p.Asp1959Val)
c.*5086A>T (n.*5086A>T)
c.5843A>T (p.Asp1948Val)
n.6112A>T
c.5489A>T (p.Asp1830Val)
c.5954A>T (p.Asp1985Val)
c.5924A>T (p.Asp1975Val)
c.5522A>T (p.Asp1841Val)
c.4760A>T (p.Asp1587Val)
c.3656A>T (p.Asp1219Val)
21g.46411917C>ACA410557218PCNTn.189C>A
c.18C>A (p.Asp6Glu)
n.18C>A
c.5877C>A (p.Asp1959Glu)
c.*5087C>A (n.*5087C>A)
c.5844C>A (p.Asp1948Glu)
n.6113C>A
c.5490C>A (p.Asp1830Glu)
c.5955C>A (p.Asp1985Glu)
c.5925C>A (p.Asp1975Glu)
c.5523C>A (p.Asp1841Glu)
c.4761C>A (p.Asp1587Glu)
c.3657C>A (p.Asp1219Glu)
 gnomAD v4
21g.46411917C>GCA410557221PCNTn.189C>G
c.18C>G (p.Asp6Glu)
n.18C>G
c.5877C>G (p.Asp1959Glu)
c.*5087C>G (n.*5087C>G)
c.5844C>G (p.Asp1948Glu)
n.6113C>G
c.5490C>G (p.Asp1830Glu)
c.5955C>G (p.Asp1985Glu)
c.5925C>G (p.Asp1975Glu)
c.5523C>G (p.Asp1841Glu)
c.4761C>G (p.Asp1587Glu)
c.3657C>G (p.Asp1219Glu)
21g.46411917C>TCA513174155PCNTn.189C>T
c.18C>T (p.Asp6=)
n.18C>T
c.5877C>T (p.Asp1959=)
c.*5087C>T (n.*5087C>T)
c.5844C>T (p.Asp1948=)
n.6113C>T
c.5490C>T (p.Asp1830=)
c.5955C>T (p.Asp1985=)
c.5925C>T (p.Asp1975=)
c.5523C>T (p.Asp1841=)
c.4761C>T (p.Asp1587=)
c.3657C>T (p.Asp1219=)
 gnomAD v4
21g.46411918A=CA2392665124PCNTn.190A=
c.19A= (p.Arg7=)
n.19A=
c.5878A= (p.Arg1960=)
c.*5088A= (n.*5088A=)
c.5845A= (p.Arg1949=)
n.6114A=
c.5491A= (p.Arg1831=)
c.5956A= (p.Arg1986=)
c.5926A= (p.Arg1976=)
c.5524A= (p.Arg1842=)
c.4762A= (p.Arg1588=)
c.3658A= (p.Arg1220=)
21g.46411918A>CCA513174156PCNTn.190A>C
c.19A>C (p.Arg7=)
n.19A>C
c.5878A>C (p.Arg1960=)
c.*5088A>C (n.*5088A>C)
c.5845A>C (p.Arg1949=)
n.6114A>C
c.5491A>C (p.Arg1831=)
c.5956A>C (p.Arg1986=)
c.5926A>C (p.Arg1976=)
c.5524A>C (p.Arg1842=)
c.4762A>C (p.Arg1588=)
c.3658A>C (p.Arg1220=)
21g.46411918A>GCA321998202PCNTn.190A>G
c.19A>G (p.Arg7Gly)
n.19A>G
c.5878A>G (p.Arg1960Gly)
c.*5088A>G (n.*5088A>G)
c.5845A>G (p.Arg1949Gly)
n.6114A>G
c.5491A>G (p.Arg1831Gly)
c.5956A>G (p.Arg1986Gly)
c.5926A>G (p.Arg1976Gly)
c.5524A>G (p.Arg1842Gly)
c.4762A>G (p.Arg1588Gly)
c.3658A>G (p.Arg1220Gly)
 dbSNP gnomAD v3 gnomAD v4
21g.46411918A>TCA410557226PCNTn.190A>T
c.19A>T (p.Arg7Trp)
n.19A>T
c.5878A>T (p.Arg1960Trp)
c.*5088A>T (n.*5088A>T)
c.5845A>T (p.Arg1949Trp)
n.6114A>T
c.5491A>T (p.Arg1831Trp)
c.5956A>T (p.Arg1986Trp)
c.5926A>T (p.Arg1976Trp)
c.5524A>T (p.Arg1842Trp)
c.4762A>T (p.Arg1588Trp)
c.3658A>T (p.Arg1220Trp)
21g.46411919G>ACA410557232PCNTn.191G>A
c.20G>A (p.Arg7Lys)
n.20G>A
c.5879G>A (p.Arg1960Lys)
c.*5089G>A (n.*5089G>A)
c.5846G>A (p.Arg1949Lys)
n.6115G>A
c.5492G>A (p.Arg1831Lys)
c.5957G>A (p.Arg1986Lys)
c.5927G>A (p.Arg1976Lys)
c.5525G>A (p.Arg1842Lys)
c.4763G>A (p.Arg1588Lys)
c.3659G>A (p.Arg1220Lys)
21g.46411919G>CCA410557242PCNTn.191G>C
c.20G>C (p.Arg7Thr)
n.20G>C
c.5879G>C (p.Arg1960Thr)
c.*5089G>C (n.*5089G>C)
c.5846G>C (p.Arg1949Thr)
n.6115G>C
c.5492G>C (p.Arg1831Thr)
c.5957G>C (p.Arg1986Thr)
c.5927G>C (p.Arg1976Thr)
c.5525G>C (p.Arg1842Thr)
c.4763G>C (p.Arg1588Thr)
c.3659G>C (p.Arg1220Thr)
21g.46411919G>TCA410557234PCNTn.191G>T
c.20G>T (p.Arg7Met)
n.20G>T
c.5879G>T (p.Arg1960Met)
c.*5089G>T (n.*5089G>T)
c.5846G>T (p.Arg1949Met)
n.6115G>T
c.5492G>T (p.Arg1831Met)
c.5957G>T (p.Arg1986Met)
c.5927G>T (p.Arg1976Met)
c.5525G>T (p.Arg1842Met)
c.4763G>T (p.Arg1588Met)
c.3659G>T (p.Arg1220Met)
 gnomAD v4 COSMIC
21g.46411920G>ACA513174158PCNTn.192G>A
c.21G>A (p.Arg7=)
n.21G>A
c.5880G>A (p.Arg1960=)
c.*5090G>A (n.*5090G>A)
c.5847G>A (p.Arg1949=)
n.6116G>A
c.5493G>A (p.Arg1831=)
c.5958G>A (p.Arg1986=)
c.5928G>A (p.Arg1976=)
c.5526G>A (p.Arg1842=)
c.4764G>A (p.Arg1588=)
c.3660G>A (p.Arg1220=)
21g.46411920G>CCA410557244PCNTn.192G>C
c.21G>C (p.Arg7Ser)
n.21G>C
c.5880G>C (p.Arg1960Ser)
c.*5090G>C (n.*5090G>C)
c.5847G>C (p.Arg1949Ser)
n.6116G>C
c.5493G>C (p.Arg1831Ser)
c.5958G>C (p.Arg1986Ser)
c.5928G>C (p.Arg1976Ser)
c.5526G>C (p.Arg1842Ser)
c.4764G>C (p.Arg1588Ser)
c.3660G>C (p.Arg1220Ser)
21g.46411920G>TCA410557245PCNTn.192G>T
c.21G>T (p.Arg7Ser)
n.21G>T
c.5880G>T (p.Arg1960Ser)
c.*5090G>T (n.*5090G>T)
c.5847G>T (p.Arg1949Ser)
n.6116G>T
c.5493G>T (p.Arg1831Ser)
c.5958G>T (p.Arg1986Ser)
c.5928G>T (p.Arg1976Ser)
c.5526G>T (p.Arg1842Ser)
c.4764G>T (p.Arg1588Ser)
c.3660G>T (p.Arg1220Ser)
21g.46411921C>ACA513174159PCNTn.193C>A
c.22C>A (p.Arg8=)
n.22C>A
c.5881C>A (p.Arg1961=)
c.*5091C>A (n.*5091C>A)
c.5848C>A (p.Arg1950=)
n.6117C>A
c.5494C>A (p.Arg1832=)
c.5959C>A (p.Arg1987=)
c.5929C>A (p.Arg1977=)
c.5527C>A (p.Arg1843=)
c.4765C>A (p.Arg1589=)
c.3661C>A (p.Arg1221=)
 gnomAD v4
21g.46411921C=CA2392665125PCNTn.193C=
c.22C= (p.Arg8=)
n.22C=
c.5881C= (p.Arg1961=)
c.*5091C= (n.*5091C=)
c.5848C= (p.Arg1950=)
n.6117C=
c.5494C= (p.Arg1832=)
c.5959C= (p.Arg1987=)
c.5929C= (p.Arg1977=)
c.5527C= (p.Arg1843=)
c.4765C= (p.Arg1589=)
c.3661C= (p.Arg1221=)
21g.46411921C>GCA410557248PCNTn.193C>G
c.22C>G (p.Arg8Gly)
n.22C>G
c.5881C>G (p.Arg1961Gly)
c.*5091C>G (n.*5091C>G)
c.5848C>G (p.Arg1950Gly)
n.6117C>G
c.5494C>G (p.Arg1832Gly)
c.5959C>G (p.Arg1987Gly)
c.5929C>G (p.Arg1977Gly)
c.5527C>G (p.Arg1843Gly)
c.4765C>G (p.Arg1589Gly)
c.3661C>G (p.Arg1221Gly)
21g.46411921C>TCA10080100PCNTn.193C>T
c.22C>T (p.Arg8Trp)
n.22C>T
c.5881C>T (p.Arg1961Trp)
c.*5091C>T (n.*5091C>T)
c.5848C>T (p.Arg1950Trp)
n.6117C>T
c.5494C>T (p.Arg1832Trp)
c.5959C>T (p.Arg1987Trp)
c.5929C>T (p.Arg1977Trp)
c.5527C>T (p.Arg1843Trp)
c.4765C>T (p.Arg1589Trp)
c.3661C>T (p.Arg1221Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411922G>ACA10080101PCNTn.194G>A
c.23G>A (p.Arg8Gln)
n.23G>A
c.5882G>A (p.Arg1961Gln)
c.*5092G>A (n.*5092G>A)
c.5849G>A (p.Arg1950Gln)
n.6118G>A
c.5495G>A (p.Arg1832Gln)
c.5960G>A (p.Arg1987Gln)
c.5930G>A (p.Arg1977Gln)
c.5528G>A (p.Arg1843Gln)
c.4766G>A (p.Arg1589Gln)
c.3662G>A (p.Arg1221Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411922G>CCA410557257PCNTn.194G>C
c.23G>C (p.Arg8Pro)
n.23G>C
c.5882G>C (p.Arg1961Pro)
c.*5092G>C (n.*5092G>C)
c.5849G>C (p.Arg1950Pro)
n.6118G>C
c.5495G>C (p.Arg1832Pro)
c.5960G>C (p.Arg1987Pro)
c.5930G>C (p.Arg1977Pro)
c.5528G>C (p.Arg1843Pro)
c.4766G>C (p.Arg1589Pro)
c.3662G>C (p.Arg1221Pro)
 dbSNP
21g.46411922G=CA2392665126PCNTn.194G=
c.23G= (p.Arg8=)
n.23G=
c.5882G= (p.Arg1961=)
c.*5092G= (n.*5092G=)
c.5849G= (p.Arg1950=)
n.6118G=
c.5495G= (p.Arg1832=)
c.5960G= (p.Arg1987=)
c.5930G= (p.Arg1977=)
c.5528G= (p.Arg1843=)
c.4766G= (p.Arg1589=)
c.3662G= (p.Arg1221=)
21g.46411922G>TCA410557260PCNTn.194G>T
c.23G>T (p.Arg8Leu)
n.23G>T
c.5882G>T (p.Arg1961Leu)
c.*5092G>T (n.*5092G>T)
c.5849G>T (p.Arg1950Leu)
n.6118G>T
c.5495G>T (p.Arg1832Leu)
c.5960G>T (p.Arg1987Leu)
c.5930G>T (p.Arg1977Leu)
c.5528G>T (p.Arg1843Leu)
c.4766G>T (p.Arg1589Leu)
c.3662G>T (p.Arg1221Leu)
 gnomAD v4
21g.46411923G>ACA513174160PCNTn.195G>A
c.24G>A (p.Arg8=)
n.24G>A
c.5883G>A (p.Arg1961=)
c.*5093G>A (n.*5093G>A)
c.5850G>A (p.Arg1950=)
n.6119G>A
c.5496G>A (p.Arg1832=)
c.5961G>A (p.Arg1987=)
c.5931G>A (p.Arg1977=)
c.5529G>A (p.Arg1843=)
c.4767G>A (p.Arg1589=)
c.3663G>A (p.Arg1221=)
 dbSNP gnomAD v2 gnomAD v4
21g.46411923G>CCA513174161PCNTn.195G>C
c.24G>C (p.Arg8=)
n.24G>C
c.5883G>C (p.Arg1961=)
c.*5093G>C (n.*5093G>C)
c.5850G>C (p.Arg1950=)
n.6119G>C
c.5496G>C (p.Arg1832=)
c.5961G>C (p.Arg1987=)
c.5931G>C (p.Arg1977=)
c.5529G>C (p.Arg1843=)
c.4767G>C (p.Arg1589=)
c.3663G>C (p.Arg1221=)
21g.46411923G=CA2392665127PCNTn.195G=
c.24G= (p.Arg8=)
n.24G=
c.5883G= (p.Arg1961=)
c.*5093G= (n.*5093G=)
c.5850G= (p.Arg1950=)
n.6119G=
c.5496G= (p.Arg1832=)
c.5961G= (p.Arg1987=)
c.5931G= (p.Arg1977=)
c.5529G= (p.Arg1843=)
c.4767G= (p.Arg1589=)
c.3663G= (p.Arg1221=)
21g.46411923G>TCA513174162PCNTn.195G>T
c.24G>T (p.Arg8=)
n.24G>T
c.5883G>T (p.Arg1961=)
c.*5093G>T (n.*5093G>T)
c.5850G>T (p.Arg1950=)
n.6119G>T
c.5496G>T (p.Arg1832=)
c.5961G>T (p.Arg1987=)
c.5931G>T (p.Arg1977=)
c.5529G>T (p.Arg1843=)
c.4767G>T (p.Arg1589=)
c.3663G>T (p.Arg1221=)
 gnomAD v4
21g.46411924C>ACA410557268PCNTn.196C>A
c.25C>A (p.Gln9Lys)
n.25C>A
c.5884C>A (p.Gln1962Lys)
c.*5094C>A (n.*5094C>A)
c.5851C>A (p.Gln1951Lys)
n.6120C>A
c.5497C>A (p.Gln1833Lys)
c.5962C>A (p.Gln1988Lys)
c.5932C>A (p.Gln1978Lys)
c.5530C>A (p.Gln1844Lys)
c.4768C>A (p.Gln1590Lys)
c.3664C>A (p.Gln1222Lys)
 gnomAD v4
21g.46411924C>GCA410557263PCNTn.196C>G
c.25C>G (p.Gln9Glu)
n.25C>G
c.5884C>G (p.Gln1962Glu)
c.*5094C>G (n.*5094C>G)
c.5851C>G (p.Gln1951Glu)
n.6120C>G
c.5497C>G (p.Gln1833Glu)
c.5962C>G (p.Gln1988Glu)
c.5932C>G (p.Gln1978Glu)
c.5530C>G (p.Gln1844Glu)
c.4768C>G (p.Gln1590Glu)
c.3664C>G (p.Gln1222Glu)
21g.46411924C>TCA410557266PCNTn.196C>T
c.25C>T (p.Gln9Ter)
n.25C>T
c.5884C>T (p.Gln1962Ter)
c.*5094C>T (n.*5094C>T)
c.5851C>T (p.Gln1951Ter)
n.6120C>T
c.5497C>T (p.Gln1833Ter)
c.5962C>T (p.Gln1988Ter)
c.5932C>T (p.Gln1978Ter)
c.5530C>T (p.Gln1844Ter)
c.4768C>T (p.Gln1590Ter)
c.3664C>T (p.Gln1222Ter)
 gnomAD v4
21g.46411925A>CCA410557270PCNTn.197A>C
c.26A>C (p.Gln9Pro)
n.26A>C
c.5885A>C (p.Gln1962Pro)
c.*5095A>C (n.*5095A>C)
c.5852A>C (p.Gln1951Pro)
n.6121A>C
c.5498A>C (p.Gln1833Pro)
c.5963A>C (p.Gln1988Pro)
c.5933A>C (p.Gln1978Pro)
c.5531A>C (p.Gln1844Pro)
c.4769A>C (p.Gln1590Pro)
c.3665A>C (p.Gln1222Pro)
 dbSNP gnomAD v3 gnomAD v4
21g.46411925A>GCA410557273PCNTn.197A>G
c.26A>G (p.Gln9Arg)
n.26A>G
c.5885A>G (p.Gln1962Arg)
c.*5095A>G (n.*5095A>G)
c.5852A>G (p.Gln1951Arg)
n.6121A>G
c.5498A>G (p.Gln1833Arg)
c.5963A>G (p.Gln1988Arg)
c.5933A>G (p.Gln1978Arg)
c.5531A>G (p.Gln1844Arg)
c.4769A>G (p.Gln1590Arg)
c.3665A>G (p.Gln1222Arg)
 gnomAD v4
21g.46411925A>TCA410557276PCNTn.197A>T
c.26A>T (p.Gln9Leu)
n.26A>T
c.5885A>T (p.Gln1962Leu)
c.*5095A>T (n.*5095A>T)
c.5852A>T (p.Gln1951Leu)
n.6121A>T
c.5498A>T (p.Gln1833Leu)
c.5963A>T (p.Gln1988Leu)
c.5933A>T (p.Gln1978Leu)
c.5531A>T (p.Gln1844Leu)
c.4769A>T (p.Gln1590Leu)
c.3665A>T (p.Gln1222Leu)
21g.46411926G>ACA513174166PCNTn.198G>A
c.27G>A (p.Gln9=)
n.27G>A
c.5886G>A (p.Gln1962=)
c.*5096G>A (n.*5096G>A)
c.5853G>A (p.Gln1951=)
n.6122G>A
c.5499G>A (p.Gln1833=)
c.5964G>A (p.Gln1988=)
c.5934G>A (p.Gln1978=)
c.5532G>A (p.Gln1844=)
c.4770G>A (p.Gln1590=)
c.3666G>A (p.Gln1222=)
 gnomAD v4
21g.46411926G>CCA410557278PCNTn.198G>C
c.27G>C (p.Gln9His)
n.27G>C
c.5886G>C (p.Gln1962His)
c.*5096G>C (n.*5096G>C)
c.5853G>C (p.Gln1951His)
n.6122G>C
c.5499G>C (p.Gln1833His)
c.5964G>C (p.Gln1988His)
c.5934G>C (p.Gln1978His)
c.5532G>C (p.Gln1844His)
c.4770G>C (p.Gln1590His)
c.3666G>C (p.Gln1222His)
21g.46411926G>TCA410557280PCNTn.198G>T
c.27G>T (p.Gln9His)
n.27G>T
c.5886G>T (p.Gln1962His)
c.*5096G>T (n.*5096G>T)
c.5853G>T (p.Gln1951His)
n.6122G>T
c.5499G>T (p.Gln1833His)
c.5964G>T (p.Gln1988His)
c.5934G>T (p.Gln1978His)
c.5532G>T (p.Gln1844His)
c.4770G>T (p.Gln1590His)
c.3666G>T (p.Gln1222His)
 gnomAD v4
21g.46411927G>ACA410557283PCNTn.199G>A
c.28G>A (p.Ala10Thr)
n.28G>A
c.5887G>A (p.Ala1963Thr)
c.*5097G>A (n.*5097G>A)
c.5854G>A (p.Ala1952Thr)
n.6123G>A
c.5500G>A (p.Ala1834Thr)
c.5965G>A (p.Ala1989Thr)
c.5935G>A (p.Ala1979Thr)
c.5533G>A (p.Ala1845Thr)
c.4771G>A (p.Ala1591Thr)
c.3667G>A (p.Ala1223Thr)
21g.46411927G>CCA410557286PCNTn.199G>C
c.28G>C (p.Ala10Pro)
n.28G>C
c.5887G>C (p.Ala1963Pro)
c.*5097G>C (n.*5097G>C)
c.5854G>C (p.Ala1952Pro)
n.6123G>C
c.5500G>C (p.Ala1834Pro)
c.5965G>C (p.Ala1989Pro)
c.5935G>C (p.Ala1979Pro)
c.5533G>C (p.Ala1845Pro)
c.4771G>C (p.Ala1591Pro)
c.3667G>C (p.Ala1223Pro)
21g.46411927G=CA2392665128PCNTn.199G=
c.28G= (p.Ala10=)
n.28G=
c.5887G= (p.Ala1963=)
c.*5097G= (n.*5097G=)
c.5854G= (p.Ala1952=)
n.6123G=
c.5500G= (p.Ala1834=)
c.5965G= (p.Ala1989=)
c.5935G= (p.Ala1979=)
c.5533G= (p.Ala1845=)
c.4771G= (p.Ala1591=)
c.3667G= (p.Ala1223=)
21g.46411927G>TCA321998207PCNTn.199G>T
c.28G>T (p.Ala10Ser)
n.28G>T
c.5887G>T (p.Ala1963Ser)
c.*5097G>T (n.*5097G>T)
c.5854G>T (p.Ala1952Ser)
n.6123G>T
c.5500G>T (p.Ala1834Ser)
c.5965G>T (p.Ala1989Ser)
c.5935G>T (p.Ala1979Ser)
c.5533G>T (p.Ala1845Ser)
c.4771G>T (p.Ala1591Ser)
c.3667G>T (p.Ala1223Ser)
 dbSNP gnomAD v3 gnomAD v4
21g.46411928C>ACA410557289PCNTn.200C>A
c.29C>A (p.Ala10Asp)
n.29C>A
c.5888C>A (p.Ala1963Asp)
c.*5098C>A (n.*5098C>A)
c.5855C>A (p.Ala1952Asp)
n.6124C>A
c.5501C>A (p.Ala1834Asp)
c.5966C>A (p.Ala1989Asp)
c.5936C>A (p.Ala1979Asp)
c.5534C>A (p.Ala1845Asp)
c.4772C>A (p.Ala1591Asp)
c.3668C>A (p.Ala1223Asp)
 gnomAD v4
21g.46411928C=CA2392665129PCNTn.200C=
c.29C= (p.Ala10=)
n.29C=
c.5888C= (p.Ala1963=)
c.*5098C= (n.*5098C=)
c.5855C= (p.Ala1952=)
n.6124C=
c.5501C= (p.Ala1834=)
c.5966C= (p.Ala1989=)
c.5936C= (p.Ala1979=)
c.5534C= (p.Ala1845=)
c.4772C= (p.Ala1591=)
c.3668C= (p.Ala1223=)
21g.46411928C>GCA410557292PCNTn.200C>G
c.29C>G (p.Ala10Gly)
n.29C>G
c.5888C>G (p.Ala1963Gly)
c.*5098C>G (n.*5098C>G)
c.5855C>G (p.Ala1952Gly)
n.6124C>G
c.5501C>G (p.Ala1834Gly)
c.5966C>G (p.Ala1989Gly)
c.5936C>G (p.Ala1979Gly)
c.5534C>G (p.Ala1845Gly)
c.4772C>G (p.Ala1591Gly)
c.3668C>G (p.Ala1223Gly)
 dbSNP gnomAD v2 gnomAD v4
21g.46411928C>TCA10080102PCNTn.200C>T
c.29C>T (p.Ala10Val)
n.29C>T
c.5888C>T (p.Ala1963Val)
c.*5098C>T (n.*5098C>T)
c.5855C>T (p.Ala1952Val)
n.6124C>T
c.5501C>T (p.Ala1834Val)
c.5966C>T (p.Ala1989Val)
c.5936C>T (p.Ala1979Val)
c.5534C>T (p.Ala1845Val)
c.4772C>T (p.Ala1591Val)
c.3668C>T (p.Ala1223Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411929C>ACA513174169PCNTn.201C>A
c.30C>A (p.Ala10=)
n.30C>A
c.5889C>A (p.Ala1963=)
c.*5099C>A (n.*5099C>A)
c.5856C>A (p.Ala1952=)
n.6125C>A
c.5502C>A (p.Ala1834=)
c.5967C>A (p.Ala1989=)
c.5937C>A (p.Ala1979=)
c.5535C>A (p.Ala1845=)
c.4773C>A (p.Ala1591=)
c.3669C>A (p.Ala1223=)
 gnomAD v4
21g.46411929C=CA2392665130PCNTn.201C=
c.30C= (p.Ala10=)
n.30C=
c.5889C= (p.Ala1963=)
c.*5099C= (n.*5099C=)
c.5856C= (p.Ala1952=)
n.6125C=
c.5502C= (p.Ala1834=)
c.5967C= (p.Ala1989=)
c.5937C= (p.Ala1979=)
c.5535C= (p.Ala1845=)
c.4773C= (p.Ala1591=)
c.3669C= (p.Ala1223=)
21g.46411929C>GCA513174171PCNTn.201C>G
c.30C>G (p.Ala10=)
n.30C>G
c.5889C>G (p.Ala1963=)
c.*5099C>G (n.*5099C>G)
c.5856C>G (p.Ala1952=)
n.6125C>G
c.5502C>G (p.Ala1834=)
c.5967C>G (p.Ala1989=)
c.5937C>G (p.Ala1979=)
c.5535C>G (p.Ala1845=)
c.4773C>G (p.Ala1591=)
c.3669C>G (p.Ala1223=)
21g.46411929C>TCA513174172PCNTn.201C>T
c.30C>T (p.Ala10=)
n.30C>T
c.5889C>T (p.Ala1963=)
c.*5099C>T (n.*5099C>T)
c.5856C>T (p.Ala1952=)
n.6125C>T
c.5502C>T (p.Ala1834=)
c.5967C>T (p.Ala1989=)
c.5937C>T (p.Ala1979=)
c.5535C>T (p.Ala1845=)
c.4773C>T (p.Ala1591=)
c.3669C>T (p.Ala1223=)
 dbSNP gnomAD v2 gnomAD v4
21g.46411930C>ACA410557297PCNTn.202C>A
c.31C>A (p.Arg11Ser)
n.31C>A
c.5890C>A (p.Arg1964Ser)
c.*5100C>A (n.*5100C>A)
c.5857C>A (p.Arg1953Ser)
n.6126C>A
c.5503C>A (p.Arg1835Ser)
c.5968C>A (p.Arg1990Ser)
c.5938C>A (p.Arg1980Ser)
c.5536C>A (p.Arg1846Ser)
c.4774C>A (p.Arg1592Ser)
c.3670C>A (p.Arg1224Ser)
 gnomAD v4
21g.46411930C=CA2392665131PCNTn.202C=
c.31C= (p.Arg11=)
n.31C=
c.5890C= (p.Arg1964=)
c.*5100C= (n.*5100C=)
c.5857C= (p.Arg1953=)
n.6126C=
c.5503C= (p.Arg1835=)
c.5968C= (p.Arg1990=)
c.5938C= (p.Arg1980=)
c.5536C= (p.Arg1846=)
c.4774C= (p.Arg1592=)
c.3670C= (p.Arg1224=)
21g.46411930C>GCA410557299PCNTn.202C>G
c.31C>G (p.Arg11Gly)
n.31C>G
c.5890C>G (p.Arg1964Gly)
c.*5100C>G (n.*5100C>G)
c.5857C>G (p.Arg1953Gly)
n.6126C>G
c.5503C>G (p.Arg1835Gly)
c.5968C>G (p.Arg1990Gly)
c.5938C>G (p.Arg1980Gly)
c.5536C>G (p.Arg1846Gly)
c.4774C>G (p.Arg1592Gly)
c.3670C>G (p.Arg1224Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46411930C>TCA10080103PCNTn.202C>T
c.31C>T (p.Arg11Cys)
n.31C>T
c.5890C>T (p.Arg1964Cys)
c.*5100C>T (n.*5100C>T)
c.5857C>T (p.Arg1953Cys)
n.6126C>T
c.5503C>T (p.Arg1835Cys)
c.5968C>T (p.Arg1990Cys)
c.5938C>T (p.Arg1980Cys)
c.5536C>T (p.Arg1846Cys)
c.4774C>T (p.Arg1592Cys)
c.3670C>T (p.Arg1224Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411931G>ACA148449PCNTn.203G>A
c.32G>A (p.Arg11His)
n.32G>A
c.5891G>A (p.Arg1964His)
c.*5101G>A (n.*5101G>A)
c.5858G>A (p.Arg1953His)
n.6127G>A
c.5504G>A (p.Arg1835His)
c.5969G>A (p.Arg1990His)
c.5939G>A (p.Arg1980His)
c.5537G>A (p.Arg1846His)
c.4775G>A (p.Arg1592His)
c.3671G>A (p.Arg1224His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411931G>CCA410557303PCNTn.203G>C
c.32G>C (p.Arg11Pro)
n.32G>C
c.5891G>C (p.Arg1964Pro)
c.*5101G>C (n.*5101G>C)
c.5858G>C (p.Arg1953Pro)
n.6127G>C
c.5504G>C (p.Arg1835Pro)
c.5969G>C (p.Arg1990Pro)
c.5939G>C (p.Arg1980Pro)
c.5537G>C (p.Arg1846Pro)
c.4775G>C (p.Arg1592Pro)
c.3671G>C (p.Arg1224Pro)
21g.46411931G=CA2392665132PCNTn.203G=
c.32G= (p.Arg11=)
n.32G=
c.5891G= (p.Arg1964=)
c.*5101G= (n.*5101G=)
c.5858G= (p.Arg1953=)
n.6127G=
c.5504G= (p.Arg1835=)
c.5969G= (p.Arg1990=)
c.5939G= (p.Arg1980=)
c.5537G= (p.Arg1846=)
c.4775G= (p.Arg1592=)
c.3671G= (p.Arg1224=)
21g.46411931G>TCA410557306PCNTn.203G>T
c.32G>T (p.Arg11Leu)
n.32G>T
c.5891G>T (p.Arg1964Leu)
c.*5101G>T (n.*5101G>T)
c.5858G>T (p.Arg1953Leu)
n.6127G>T
c.5504G>T (p.Arg1835Leu)
c.5969G>T (p.Arg1990Leu)
c.5939G>T (p.Arg1980Leu)
c.5537G>T (p.Arg1846Leu)
c.4775G>T (p.Arg1592Leu)
c.3671G>T (p.Arg1224Leu)
 gnomAD v4
21g.46411932C>ACA513174174PCNTn.204C>A
c.33C>A (p.Arg11=)
n.33C>A
c.5892C>A (p.Arg1964=)
c.*5102C>A (n.*5102C>A)
c.5859C>A (p.Arg1953=)
n.6128C>A
c.5505C>A (p.Arg1835=)
c.5970C>A (p.Arg1990=)
c.5940C>A (p.Arg1980=)
c.5538C>A (p.Arg1846=)
c.4776C>A (p.Arg1592=)
c.3672C>A (p.Arg1224=)
21g.46411932C>GCA513174175PCNTn.204C>G
c.33C>G (p.Arg11=)
n.33C>G
c.5892C>G (p.Arg1964=)
c.*5102C>G (n.*5102C>G)
c.5859C>G (p.Arg1953=)
n.6128C>G
c.5505C>G (p.Arg1835=)
c.5970C>G (p.Arg1990=)
c.5940C>G (p.Arg1980=)
c.5538C>G (p.Arg1846=)
c.4776C>G (p.Arg1592=)
c.3672C>G (p.Arg1224=)
21g.46411932C>TCA513174176PCNTn.204C>T
c.33C>T (p.Arg11=)
n.33C>T
c.5892C>T (p.Arg1964=)
c.*5102C>T (n.*5102C>T)
c.5859C>T (p.Arg1953=)
n.6128C>T
c.5505C>T (p.Arg1835=)
c.5970C>T (p.Arg1990=)
c.5940C>T (p.Arg1980=)
c.5538C>T (p.Arg1846=)
c.4776C>T (p.Arg1592=)
c.3672C>T (p.Arg1224=)
 gnomAD v4
21g.46411933A>CCA513174177PCNTn.205A>C
c.34A>C (p.Arg12=)
n.34A>C
c.5893A>C (p.Arg1965=)
c.*5103A>C (n.*5103A>C)
c.5860A>C (p.Arg1954=)
n.6129A>C
c.5506A>C (p.Arg1836=)
c.5971A>C (p.Arg1991=)
c.5941A>C (p.Arg1981=)
c.5539A>C (p.Arg1847=)
c.4777A>C (p.Arg1593=)
c.3673A>C (p.Arg1225=)
21g.46411933A>GCA410557309PCNTn.205A>G
c.34A>G (p.Arg12Gly)
n.34A>G
c.5893A>G (p.Arg1965Gly)
c.*5103A>G (n.*5103A>G)
c.5860A>G (p.Arg1954Gly)
n.6129A>G
c.5506A>G (p.Arg1836Gly)
c.5971A>G (p.Arg1991Gly)
c.5941A>G (p.Arg1981Gly)
c.5539A>G (p.Arg1847Gly)
c.4777A>G (p.Arg1593Gly)
c.3673A>G (p.Arg1225Gly)
 gnomAD v4
21g.46411933A>TCA410557311PCNTn.205A>T
c.34A>T (p.Arg12Ter)
n.34A>T
c.5893A>T (p.Arg1965Ter)
c.*5103A>T (n.*5103A>T)
c.5860A>T (p.Arg1954Ter)
n.6129A>T
c.5506A>T (p.Arg1836Ter)
c.5971A>T (p.Arg1991Ter)
c.5941A>T (p.Arg1981Ter)
c.5539A>T (p.Arg1847Ter)
c.4777A>T (p.Arg1593Ter)
c.3673A>T (p.Arg1225Ter)
21g.46411934G>ACA410557317PCNTn.206G>A
c.35G>A (p.Arg12Lys)
n.35G>A
c.5894G>A (p.Arg1965Lys)
c.*5104G>A (n.*5104G>A)
c.5861G>A (p.Arg1954Lys)
n.6130G>A
c.5507G>A (p.Arg1836Lys)
c.5972G>A (p.Arg1991Lys)
c.5942G>A (p.Arg1981Lys)
c.5540G>A (p.Arg1847Lys)
c.4778G>A (p.Arg1593Lys)
c.3674G>A (p.Arg1225Lys)
21g.46411934G>CCA410557322PCNTn.206G>C
c.35G>C (p.Arg12Thr)
n.35G>C
c.5894G>C (p.Arg1965Thr)
c.*5104G>C (n.*5104G>C)
c.5861G>C (p.Arg1954Thr)
n.6130G>C
c.5507G>C (p.Arg1836Thr)
c.5972G>C (p.Arg1991Thr)
c.5942G>C (p.Arg1981Thr)
c.5540G>C (p.Arg1847Thr)
c.4778G>C (p.Arg1593Thr)
c.3674G>C (p.Arg1225Thr)
21g.46411934G>TCA410557319PCNTn.206G>T
c.35G>T (p.Arg12Ile)
n.35G>T
c.5894G>T (p.Arg1965Ile)
c.*5104G>T (n.*5104G>T)
c.5861G>T (p.Arg1954Ile)
n.6130G>T
c.5507G>T (p.Arg1836Ile)
c.5972G>T (p.Arg1991Ile)
c.5942G>T (p.Arg1981Ile)
c.5540G>T (p.Arg1847Ile)
c.4778G>T (p.Arg1593Ile)
c.3674G>T (p.Arg1225Ile)
 gnomAD v4
21g.46411935A>CCA410557324PCNTn.207A>C
c.36A>C (p.Arg12Ser)
n.36A>C
c.5895A>C (p.Arg1965Ser)
c.*5105A>C (n.*5105A>C)
c.5862A>C (p.Arg1954Ser)
n.6131A>C
c.5508A>C (p.Arg1836Ser)
c.5973A>C (p.Arg1991Ser)
c.5943A>C (p.Arg1981Ser)
c.5541A>C (p.Arg1847Ser)
c.4779A>C (p.Arg1593Ser)
c.3675A>C (p.Arg1225Ser)
21g.46411935A>GCA513174180PCNTn.207A>G
c.36A>G (p.Arg12=)
n.36A>G
c.5895A>G (p.Arg1965=)
c.*5105A>G (n.*5105A>G)
c.5862A>G (p.Arg1954=)
n.6131A>G
c.5508A>G (p.Arg1836=)
c.5973A>G (p.Arg1991=)
c.5943A>G (p.Arg1981=)
c.5541A>G (p.Arg1847=)
c.4779A>G (p.Arg1593=)
c.3675A>G (p.Arg1225=)
21g.46411935A>TCA410557327PCNTn.207A>T
c.36A>T (p.Arg12Ser)
n.36A>T
c.5895A>T (p.Arg1965Ser)
c.*5105A>T (n.*5105A>T)
c.5862A>T (p.Arg1954Ser)
n.6131A>T
c.5508A>T (p.Arg1836Ser)
c.5973A>T (p.Arg1991Ser)
c.5943A>T (p.Arg1981Ser)
c.5541A>T (p.Arg1847Ser)
c.4779A>T (p.Arg1593Ser)
c.3675A>T (p.Arg1225Ser)
21g.46411936G>ACA321998214PCNTn.208G>A
c.37G>A (p.Ala13Thr)
n.37G>A
c.5896G>A (p.Ala1966Thr)
c.*5106G>A (n.*5106G>A)
c.5863G>A (p.Ala1955Thr)
n.6132G>A
c.5509G>A (p.Ala1837Thr)
c.5974G>A (p.Ala1992Thr)
c.5944G>A (p.Ala1982Thr)
c.5542G>A (p.Ala1848Thr)
c.4780G>A (p.Ala1594Thr)
c.3676G>A (p.Ala1226Thr)
 dbSNP gnomAD v2 gnomAD v4
21g.46411936G>CCA410557332PCNTn.208G>C
c.37G>C (p.Ala13Pro)
n.37G>C
c.5896G>C (p.Ala1966Pro)
c.*5106G>C (n.*5106G>C)
c.5863G>C (p.Ala1955Pro)
n.6132G>C
c.5509G>C (p.Ala1837Pro)
c.5974G>C (p.Ala1992Pro)
c.5944G>C (p.Ala1982Pro)
c.5542G>C (p.Ala1848Pro)
c.4780G>C (p.Ala1594Pro)
c.3676G>C (p.Ala1226Pro)
21g.46411936G=CA2392665133PCNTn.208G=
c.37G= (p.Ala13=)
n.37G=
c.5896G= (p.Ala1966=)
c.*5106G= (n.*5106G=)
c.5863G= (p.Ala1955=)
n.6132G=
c.5509G= (p.Ala1837=)
c.5974G= (p.Ala1992=)
c.5944G= (p.Ala1982=)
c.5542G= (p.Ala1848=)
c.4780G= (p.Ala1594=)
c.3676G= (p.Ala1226=)
21g.46411936G>TCA410557334PCNTn.208G>T
c.37G>T (p.Ala13Ser)
n.37G>T
c.5896G>T (p.Ala1966Ser)
c.*5106G>T (n.*5106G>T)
c.5863G>T (p.Ala1955Ser)
n.6132G>T
c.5509G>T (p.Ala1837Ser)
c.5974G>T (p.Ala1992Ser)
c.5944G>T (p.Ala1982Ser)
c.5542G>T (p.Ala1848Ser)
c.4780G>T (p.Ala1594Ser)
c.3676G>T (p.Ala1226Ser)
 gnomAD v4
21g.46411937C>ACA410557337PCNTn.209C>A
c.38C>A (p.Ala13Asp)
n.38C>A
c.5897C>A (p.Ala1966Asp)
c.*5107C>A (n.*5107C>A)
c.5864C>A (p.Ala1955Asp)
n.6133C>A
c.5510C>A (p.Ala1837Asp)
c.5975C>A (p.Ala1992Asp)
c.5945C>A (p.Ala1982Asp)
c.5543C>A (p.Ala1848Asp)
c.4781C>A (p.Ala1594Asp)
c.3677C>A (p.Ala1226Asp)
 gnomAD v4
21g.46411937C>GCA410557339PCNTn.209C>G
c.38C>G (p.Ala13Gly)
n.38C>G
c.5897C>G (p.Ala1966Gly)
c.*5107C>G (n.*5107C>G)
c.5864C>G (p.Ala1955Gly)
n.6133C>G
c.5510C>G (p.Ala1837Gly)
c.5975C>G (p.Ala1992Gly)
c.5945C>G (p.Ala1982Gly)
c.5543C>G (p.Ala1848Gly)
c.4781C>G (p.Ala1594Gly)
c.3677C>G (p.Ala1226Gly)
21g.46411937C>TCA410557341PCNTn.209C>T
c.38C>T (p.Ala13Val)
n.38C>T
c.5897C>T (p.Ala1966Val)
c.*5107C>T (n.*5107C>T)
c.5864C>T (p.Ala1955Val)
n.6133C>T
c.5510C>T (p.Ala1837Val)
c.5975C>T (p.Ala1992Val)
c.5945C>T (p.Ala1982Val)
c.5543C>T (p.Ala1848Val)
c.4781C>T (p.Ala1594Val)
c.3677C>T (p.Ala1226Val)
21g.46411938C>ACA10080104PCNTn.210C>A
c.39C>A (p.Ala13=)
n.39C>A
c.5898C>A (p.Ala1966=)
c.*5108C>A (n.*5108C>A)
c.5865C>A (p.Ala1955=)
n.6134C>A
c.5511C>A (p.Ala1837=)
c.5976C>A (p.Ala1992=)
c.5946C>A (p.Ala1982=)
c.5544C>A (p.Ala1848=)
c.4782C>A (p.Ala1594=)
c.3678C>A (p.Ala1226=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46411938C=CA2392665134PCNTn.210C=
c.39C= (p.Ala13=)
n.39C=
c.5898C= (p.Ala1966=)
c.*5108C= (n.*5108C=)
c.5865C= (p.Ala1955=)
n.6134C=
c.5511C= (p.Ala1837=)
c.5976C= (p.Ala1992=)
c.5946C= (p.Ala1982=)
c.5544C= (p.Ala1848=)
c.4782C= (p.Ala1594=)
c.3678C= (p.Ala1226=)
21g.46411938C>GCA513174184PCNTn.210C>G
c.39C>G (p.Ala13=)
n.39C>G
c.5898C>G (p.Ala1966=)
c.*5108C>G (n.*5108C>G)
c.5865C>G (p.Ala1955=)
n.6134C>G
c.5511C>G (p.Ala1837=)
c.5976C>G (p.Ala1992=)
c.5946C>G (p.Ala1982=)
c.5544C>G (p.Ala1848=)
c.4782C>G (p.Ala1594=)
c.3678C>G (p.Ala1226=)
21g.46411938C>TCA513174185PCNTn.210C>T
c.39C>T (p.Ala13=)
n.39C>T
c.5898C>T (p.Ala1966=)
c.*5108C>T (n.*5108C>T)
c.5865C>T (p.Ala1955=)
n.6134C>T
c.5511C>T (p.Ala1837=)
c.5976C>T (p.Ala1992=)
c.5946C>T (p.Ala1982=)
c.5544C>T (p.Ala1848=)
c.4782C>T (p.Ala1594=)
c.3678C>T (p.Ala1226=)
21g.46411939A>CCA410557347PCNTn.211A>C
c.40A>C (p.Thr14Pro)
n.40A>C
c.5899A>C (p.Thr1967Pro)
c.*5109A>C (n.*5109A>C)
c.5866A>C (p.Thr1956Pro)
n.6135A>C
c.5512A>C (p.Thr1838Pro)
c.5977A>C (p.Thr1993Pro)
c.5947A>C (p.Thr1983Pro)
c.5545A>C (p.Thr1849Pro)
c.4783A>C (p.Thr1595Pro)
c.3679A>C (p.Thr1227Pro)
21g.46411939A>GCA410557353PCNTn.211A>G
c.40A>G (p.Thr14Ala)
n.40A>G
c.5899A>G (p.Thr1967Ala)
c.*5109A>G (n.*5109A>G)
c.5866A>G (p.Thr1956Ala)
n.6135A>G
c.5512A>G (p.Thr1838Ala)
c.5977A>G (p.Thr1993Ala)
c.5947A>G (p.Thr1983Ala)
c.5545A>G (p.Thr1849Ala)
c.4783A>G (p.Thr1595Ala)
c.3679A>G (p.Thr1227Ala)
21g.46411939A>TCA410557355PCNTn.211A>T
c.40A>T (p.Thr14Ser)
n.40A>T
c.5899A>T (p.Thr1967Ser)
c.*5109A>T (n.*5109A>T)
c.5866A>T (p.Thr1956Ser)
n.6135A>T
c.5512A>T (p.Thr1838Ser)
c.5977A>T (p.Thr1993Ser)
c.5947A>T (p.Thr1983Ser)
c.5545A>T (p.Thr1849Ser)
c.4783A>T (p.Thr1595Ser)
c.3679A>T (p.Thr1227Ser)
21g.46411940C>ACA410557363PCNTn.212C>A
c.41C>A (p.Thr14Lys)
n.41C>A
c.5900C>A (p.Thr1967Lys)
c.*5110C>A (n.*5110C>A)
c.5867C>A (p.Thr1956Lys)
n.6136C>A
c.5513C>A (p.Thr1838Lys)
c.5978C>A (p.Thr1993Lys)
c.5948C>A (p.Thr1983Lys)
c.5546C>A (p.Thr1849Lys)
c.4784C>A (p.Thr1595Lys)
c.3680C>A (p.Thr1227Lys)
21g.46411940C>GCA410557359PCNTn.212C>G
c.41C>G (p.Thr14Arg)
n.41C>G
c.5900C>G (p.Thr1967Arg)
c.*5110C>G (n.*5110C>G)
c.5867C>G (p.Thr1956Arg)
n.6136C>G
c.5513C>G (p.Thr1838Arg)
c.5978C>G (p.Thr1993Arg)
c.5948C>G (p.Thr1983Arg)
c.5546C>G (p.Thr1849Arg)
c.4784C>G (p.Thr1595Arg)
c.3680C>G (p.Thr1227Arg)
21g.46411940C>TCA410557360PCNTn.212C>T
c.41C>T (p.Thr14Ile)
n.41C>T
c.5900C>T (p.Thr1967Ile)
c.*5110C>T (n.*5110C>T)
c.5867C>T (p.Thr1956Ile)
n.6136C>T
c.5513C>T (p.Thr1838Ile)
c.5978C>T (p.Thr1993Ile)
c.5948C>T (p.Thr1983Ile)
c.5546C>T (p.Thr1849Ile)
c.4784C>T (p.Thr1595Ile)
c.3680C>T (p.Thr1227Ile)
 gnomAD v4
21g.46411941A>CCA513174188PCNTn.213A>C
c.42A>C (p.Thr14=)
n.42A>C
c.5901A>C (p.Thr1967=)
c.*5111A>C (n.*5111A>C)
c.5868A>C (p.Thr1956=)
n.6137A>C
c.5514A>C (p.Thr1838=)
c.5979A>C (p.Thr1993=)
c.5949A>C (p.Thr1983=)
c.5547A>C (p.Thr1849=)
c.4785A>C (p.Thr1595=)
c.3681A>C (p.Thr1227=)
21g.46411941A>GCA513174189PCNTn.213A>G
c.42A>G (p.Thr14=)
n.42A>G
c.5901A>G (p.Thr1967=)
c.*5111A>G (n.*5111A>G)
c.5868A>G (p.Thr1956=)
n.6137A>G
c.5514A>G (p.Thr1838=)
c.5979A>G (p.Thr1993=)
c.5949A>G (p.Thr1983=)
c.5547A>G (p.Thr1849=)
c.4785A>G (p.Thr1595=)
c.3681A>G (p.Thr1227=)
21g.46411941A>TCA513174190PCNTn.213A>T
c.42A>T (p.Thr14=)
n.42A>T
c.5901A>T (p.Thr1967=)
c.*5111A>T (n.*5111A>T)
c.5868A>T (p.Thr1956=)
n.6137A>T
c.5514A>T (p.Thr1838=)
c.5979A>T (p.Thr1993=)
c.5949A>T (p.Thr1983=)
c.5547A>T (p.Thr1849=)
c.4785A>T (p.Thr1595=)
c.3681A>T (p.Thr1227=)
 dbSNP gnomAD v4

Number of alleles fetched