Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.74101008G>ACA5563123VCLc.1933G>A (p.Glu645Lys)
c.949G>A (p.Glu317Lys)
n.332-46G>A
n.4736G>A
c.*1688G>A (n.*1688G>A)
c.1936G>A (p.Glu646Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.74101008G>CCA377277688VCLc.1933G>C (p.Glu645Gln)
c.949G>C (p.Glu317Gln)
n.332-46G>C
n.4736G>C
c.*1688G>C (n.*1688G>C)
c.1936G>C (p.Glu646Gln)
10g.74101008G=CA1919893094VCLc.1933G= (p.Glu645=)
c.949G= (p.Glu317=)
n.332-46G=
n.4736G=
c.*1688G= (n.*1688G=)
c.1936G= (p.Glu646=)
10g.74101008G>TCA377277691VCLc.1933G>T (p.Glu645Ter)
c.949G>T (p.Glu317Ter)
n.332-46G>T
n.4736G>T
c.*1688G>T (n.*1688G>T)
c.1936G>T (p.Glu646Ter)
10g.74101009A>CCA377277697VCLc.1934A>C (p.Glu645Ala)
c.950A>C (p.Glu317Ala)
n.332-45A>C
n.4737A>C
c.*1689A>C (n.*1689A>C)
c.1937A>C (p.Glu646Ala)
10g.74101009A>GCA377277703VCLc.1934A>G (p.Glu645Gly)
c.950A>G (p.Glu317Gly)
n.332-45A>G
n.4737A>G
c.*1689A>G (n.*1689A>G)
c.1937A>G (p.Glu646Gly)
10g.74101009A>TCA377277700VCLc.1934A>T (p.Glu645Val)
c.950A>T (p.Glu317Val)
n.332-45A>T
n.4737A>T
c.*1689A>T (n.*1689A>T)
c.1937A>T (p.Glu646Val)
10g.74101010G>ACA470175551VCLc.1935G>A (p.Glu645=)
c.951G>A (p.Glu317=)
n.332-44G>A
n.4738G>A
c.*1690G>A (n.*1690G>A)
c.1938G>A (p.Glu646=)
10g.74101010G>CCA377277706VCLc.1935G>C (p.Glu645Asp)
c.951G>C (p.Glu317Asp)
n.332-44G>C
n.4738G>C
c.*1690G>C (n.*1690G>C)
c.1938G>C (p.Glu646Asp)
gnomAD v4
10g.74101010G>TCA377277707VCLc.1935G>T (p.Glu645Asp)
c.951G>T (p.Glu317Asp)
n.332-44G>T
n.4738G>T
c.*1690G>T (n.*1690G>T)
c.1938G>T (p.Glu646Asp)
10g.74101011A>CCA377277713VCLc.1936A>C (p.Lys646Gln)
c.952A>C (p.Lys318Gln)
n.332-43A>C
n.4739A>C
c.*1691A>C (n.*1691A>C)
c.1939A>C (p.Lys647Gln)
10g.74101011A>GCA377277718VCLc.1936A>G (p.Lys646Glu)
c.952A>G (p.Lys318Glu)
n.332-43A>G
n.4739A>G
c.*1691A>G (n.*1691A>G)
c.1939A>G (p.Lys647Glu)
gnomAD v4
10g.74101011A>TCA377277721VCLc.1936A>T (p.Lys646Ter)
c.952A>T (p.Lys318Ter)
n.332-43A>T
n.4739A>T
c.*1691A>T (n.*1691A>T)
c.1939A>T (p.Lys647Ter)
10g.74101012A=CA1919893099VCLc.1937A= (p.Lys646=)
c.953A= (p.Lys318=)
n.332-42A=
n.4740A=
c.*1692A= (n.*1692A=)
c.1940A= (p.Lys647=)
10g.74101012A>CCA5563124VCLc.1937A>C (p.Lys646Thr)
c.953A>C (p.Lys318Thr)
n.332-42A>C
n.4740A>C
c.*1692A>C (n.*1692A>C)
c.1940A>C (p.Lys647Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.74101012A>GCA377277725VCLc.1937A>G (p.Lys646Arg)
c.953A>G (p.Lys318Arg)
n.332-42A>G
n.4740A>G
c.*1692A>G (n.*1692A>G)
c.1940A>G (p.Lys647Arg)
10g.74101012A>TCA377277727VCLc.1937A>T (p.Lys646Met)
c.953A>T (p.Lys318Met)
n.332-42A>T
n.4740A>T
c.*1692A>T (n.*1692A>T)
c.1940A>T (p.Lys647Met)
COSMIC
10g.74101013G>ACA470175554VCLc.1938G>A (p.Lys646=)
c.954G>A (p.Lys318=)
n.332-41G>A
n.4741G>A
c.*1693G>A (n.*1693G>A)
c.1941G>A (p.Lys647=)
10g.74101013G>CCA377277729VCLc.1938G>C (p.Lys646Asn)
c.954G>C (p.Lys318Asn)
n.332-41G>C
n.4741G>C
c.*1693G>C (n.*1693G>C)
c.1941G>C (p.Lys647Asn)
10g.74101013G>TCA377277732VCLc.1938G>T (p.Lys646Asn)
c.954G>T (p.Lys318Asn)
n.332-41G>T
n.4741G>T
c.*1693G>T (n.*1693G>T)
c.1941G>T (p.Lys647Asn)
ClinVar
10g.74101014G>ACA377277741VCLc.1939G>A (p.Ala647Thr)
c.955G>A (p.Ala319Thr)
n.332-40G>A
n.4742G>A
c.*1694G>A (n.*1694G>A)
c.1942G>A (p.Ala648Thr)
gnomAD v4
10g.74101014G>CCA377277737VCLc.1939G>C (p.Ala647Pro)
c.955G>C (p.Ala319Pro)
n.332-40G>C
n.4742G>C
c.*1694G>C (n.*1694G>C)
c.1942G>C (p.Ala648Pro)
gnomAD v4
10g.74101014G>TCA377277734VCLc.1939G>T (p.Ala647Ser)
c.955G>T (p.Ala319Ser)
n.332-40G>T
n.4742G>T
c.*1694G>T (n.*1694G>T)
c.1942G>T (p.Ala648Ser)
10g.74101015C>ACA377277744VCLc.1940C>A (p.Ala647Glu)
c.956C>A (p.Ala319Glu)
n.332-39C>A
n.4743C>A
c.*1695C>A (n.*1695C>A)
c.1943C>A (p.Ala648Glu)
10g.74101015C=CA1919893105VCLc.1940C= (p.Ala647=)
c.956C= (p.Ala319=)
n.332-39C=
n.4743C=
c.*1695C= (n.*1695C=)
c.1943C= (p.Ala648=)
10g.74101015C>GCA377277746VCLc.1940C>G (p.Ala647Gly)
c.956C>G (p.Ala319Gly)
n.332-39C>G
n.4743C>G
c.*1695C>G (n.*1695C>G)
c.1943C>G (p.Ala648Gly)
10g.74101015C>TCA5563125VCLc.1940C>T (p.Ala647Val)
c.956C>T (p.Ala319Val)
n.332-39C>T
n.4743C>T
c.*1695C>T (n.*1695C>T)
c.1943C>T (p.Ala648Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74101016G>ACA470162773VCLc.1941G>A (p.Ala647=)
c.957G>A (p.Ala319=)
n.332-38G>A
n.4744G>A
c.*1696G>A (n.*1696G>A)
c.1944G>A (p.Ala648=)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.74101016G>CCA470162774VCLc.1941G>C (p.Ala647=)
c.957G>C (p.Ala319=)
n.332-38G>C
n.4744G>C
c.*1696G>C (n.*1696G>C)
c.1944G>C (p.Ala648=)
10g.74101016G=CA1919893110VCLc.1941G= (p.Ala647=)
c.957G= (p.Ala319=)
n.332-38G=
n.4744G=
c.*1696G= (n.*1696G=)
c.1944G= (p.Ala648=)
10g.74101016G>TCA470162775VCLc.1941G>T (p.Ala647=)
c.957G>T (p.Ala319=)
n.332-38G>T
n.4744G>T
c.*1696G>T (n.*1696G>T)
c.1944G>T (p.Ala648=)
gnomAD v4
10g.74101017G>ACA377260641VCLc.1942G>A (p.Ala648Thr)
c.958G>A (p.Ala320Thr)
n.332-37G>A
n.4745G>A
c.*1697G>A (n.*1697G>A)
c.1945G>A (p.Ala649Thr)
10g.74101017G>CCA377260642VCLc.1942G>C (p.Ala648Pro)
c.958G>C (p.Ala320Pro)
n.332-37G>C
n.4745G>C
c.*1697G>C (n.*1697G>C)
c.1945G>C (p.Ala649Pro)
10g.74101017G>TCA377260643VCLc.1942G>T (p.Ala648Ser)
c.958G>T (p.Ala320Ser)
n.332-37G>T
n.4745G>T
c.*1697G>T (n.*1697G>T)
c.1945G>T (p.Ala649Ser)
10g.74101018C>ACA377260644VCLc.1943C>A (p.Ala648Asp)
c.959C>A (p.Ala320Asp)
n.332-36C>A
n.4746C>A
c.*1698C>A (n.*1698C>A)
c.1946C>A (p.Ala649Asp)
10g.74101018C>GCA377260646VCLc.1943C>G (p.Ala648Gly)
c.959C>G (p.Ala320Gly)
n.332-36C>G
n.4746C>G
c.*1698C>G (n.*1698C>G)
c.1946C>G (p.Ala649Gly)
10g.74101018C>TCA377260648VCLc.1943C>T (p.Ala648Val)
c.959C>T (p.Ala320Val)
n.332-36C>T
n.4746C>T
c.*1698C>T (n.*1698C>T)
c.1946C>T (p.Ala649Val)
gnomAD v4
10g.74101019T>ACA470162777VCLc.1944T>A (p.Ala648=)
c.960T>A (p.Ala320=)
n.332-35T>A
n.4747T>A
c.*1699T>A (n.*1699T>A)
c.1947T>A (p.Ala649=)
10g.74101019T>CCA470162778VCLc.1944T>C (p.Ala648=)
c.960T>C (p.Ala320=)
n.332-35T>C
n.4747T>C
c.*1699T>C (n.*1699T>C)
c.1947T>C (p.Ala649=)
10g.74101019T>GCA470162779VCLc.1944T>G (p.Ala648=)
c.960T>G (p.Ala320=)
n.332-35T>G
n.4747T>G
c.*1699T>G (n.*1699T>G)
c.1947T>G (p.Ala649=)
10g.74101020G>ACA377260650VCLc.1945G>A (p.Ala649Thr)
c.961G>A (p.Ala321Thr)
n.332-34G>A
n.4748G>A
c.*1700G>A (n.*1700G>A)
c.1948G>A (p.Ala650Thr)
10g.74101020G>CCA377260653VCLc.1945G>C (p.Ala649Pro)
c.961G>C (p.Ala321Pro)
n.332-34G>C
n.4748G>C
c.*1700G>C (n.*1700G>C)
c.1948G>C (p.Ala650Pro)
10g.74101020G>TCA377260655VCLc.1945G>T (p.Ala649Ser)
c.961G>T (p.Ala321Ser)
n.332-34G>T
n.4748G>T
c.*1700G>T (n.*1700G>T)
c.1948G>T (p.Ala650Ser)
10g.74101021C>ACA377260659VCLc.1946C>A (p.Ala649Glu)
c.962C>A (p.Ala321Glu)
n.332-33C>A
n.4749C>A
c.*1701C>A (n.*1701C>A)
c.1949C>A (p.Ala650Glu)
10g.74101021C=CA1919893115VCLc.1946C= (p.Ala649=)
c.962C= (p.Ala321=)
n.332-33C=
n.4749C=
c.*1701C= (n.*1701C=)
c.1949C= (p.Ala650=)
10g.74101021C>GCA377260658VCLc.1946C>G (p.Ala649Gly)
c.962C>G (p.Ala321Gly)
n.332-33C>G
n.4749C>G
c.*1701C>G (n.*1701C>G)
c.1949C>G (p.Ala650Gly)
10g.74101021C>TCA377260657VCLc.1946C>T (p.Ala649Val)
c.962C>T (p.Ala321Val)
n.332-33C>T
n.4749C>T
c.*1701C>T (n.*1701C>T)
c.1949C>T (p.Ala650Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.74101021_74101022delinsCGCA1919893114VCLc.1946_1947delinsCG (p.Ala649=)
c.962_963delinsCG (p.Ala321=)
n.332-33_332-32delinsCG
n.4749_4750delinsCG
c.*1701_*1702delinsCG (n.*1701_*1702delinsCG)
c.1949_1950delinsCG (p.Ala650=)
10g.74101022G>ACA5563126VCLc.1947G>A (p.Ala649=)
c.963G>A (p.Ala321=)
n.332-32G>A
n.4750G>A
c.*1702G>A (n.*1702G>A)
c.1950G>A (p.Ala650=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74101022G>CCA470162780VCLc.1947G>C (p.Ala649=)
c.963G>C (p.Ala321=)
n.332-32G>C
n.4750G>C
c.*1702G>C (n.*1702G>C)
c.1950G>C (p.Ala650=)
10g.74101022G=CA1919893122VCLc.1947G= (p.Ala649=)
c.963G= (p.Ala321=)
n.332-32G=
n.4750G=
c.*1702G= (n.*1702G=)
c.1950G= (p.Ala650=)
10g.74101022G>TCA470162781VCLc.1947G>T (p.Ala649=)
c.963G>T (p.Ala321=)
n.332-32G>T
n.4750G>T
c.*1702G>T (n.*1702G>T)
c.1950G>T (p.Ala650=)
10g.74101023delCA668304460VCLc.1948del (p.Val650LeufsTer16)
c.964del (p.Val322LeufsTer16)
n.332-31del
n.4751del
c.*1703del (n.*1703del)
c.1951del (p.Val651LeufsTer16)
dbSNP gnomAD v3 gnomAD v4
10g.74101023G>ACA377260663VCLc.1948G>A (p.Val650Ile)
c.964G>A (p.Val322Ile)
n.332-31G>A
n.4751G>A
c.*1703G>A (n.*1703G>A)
c.1951G>A (p.Val651Ile)
10g.74101023G>CCA377260664VCLc.1948G>C (p.Val650Leu)
c.964G>C (p.Val322Leu)
n.332-31G>C
n.4751G>C
c.*1703G>C (n.*1703G>C)
c.1951G>C (p.Val651Leu)
10g.74101023G>TCA377260666VCLc.1948G>T (p.Val650Phe)
c.964G>T (p.Val322Phe)
n.332-31G>T
n.4751G>T
c.*1703G>T (n.*1703G>T)
c.1951G>T (p.Val651Phe)
gnomAD v4
10g.74101024T>ACA377260667VCLc.1949T>A (p.Val650Asp)
c.965T>A (p.Val322Asp)
n.332-30T>A
n.4752T>A
c.*1704T>A (n.*1704T>A)
c.1952T>A (p.Val651Asp)
10g.74101024T>CCA377260669VCLc.1949T>C (p.Val650Ala)
c.965T>C (p.Val322Ala)
n.332-30T>C
n.4752T>C
c.*1704T>C (n.*1704T>C)
c.1952T>C (p.Val651Ala)
10g.74101024T>GCA377260671VCLc.1949T>G (p.Val650Gly)
c.965T>G (p.Val322Gly)
n.332-30T>G
n.4752T>G
c.*1704T>G (n.*1704T>G)
c.1952T>G (p.Val651Gly)
10g.74101025T>ACA470162782VCLc.1950T>A (p.Val650=)
c.966T>A (p.Val322=)
n.332-29T>A
n.4753T>A
c.*1705T>A (n.*1705T>A)
c.1953T>A (p.Val651=)
10g.74101025T>CCA470162783VCLc.1950T>C (p.Val650=)
c.966T>C (p.Val322=)
n.332-29T>C
n.4753T>C
c.*1705T>C (n.*1705T>C)
c.1953T>C (p.Val651=)
10g.74101025T>GCA470162784VCLc.1950T>G (p.Val650=)
c.966T>G (p.Val322=)
n.332-29T>G
n.4753T>G
c.*1705T>G (n.*1705T>G)
c.1953T>G (p.Val651=)
10g.74101026G>ACA5563127VCLc.1951G>A (p.Gly651Ser)
c.967G>A (p.Gly323Ser)
n.332-28G>A
n.4754G>A
c.*1706G>A (n.*1706G>A)
c.1954G>A (p.Gly652Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74101026G>CCA377260672VCLc.1951G>C (p.Gly651Arg)
c.967G>C (p.Gly323Arg)
n.332-28G>C
n.4754G>C
c.*1706G>C (n.*1706G>C)
c.1954G>C (p.Gly652Arg)
10g.74101026G=CA1919893129VCLc.1951G= (p.Gly651=)
c.967G= (p.Gly323=)
n.332-28G=
n.4754G=
c.*1706G= (n.*1706G=)
c.1954G= (p.Gly652=)
10g.74101026G>TCA377260673VCLc.1951G>T (p.Gly651Cys)
c.967G>T (p.Gly323Cys)
n.332-28G>T
n.4754G>T
c.*1706G>T (n.*1706G>T)
c.1954G>T (p.Gly652Cys)
10g.74101027G>ACA377260676VCLc.1952G>A (p.Gly651Asp)
c.968G>A (p.Gly323Asp)
n.332-27G>A
n.4755G>A
c.*1707G>A (n.*1707G>A)
c.1955G>A (p.Gly652Asp)
gnomAD v4
10g.74101027G>CCA377260678VCLc.1952G>C (p.Gly651Ala)
c.968G>C (p.Gly323Ala)
n.332-27G>C
n.4755G>C
c.*1707G>C (n.*1707G>C)
c.1955G>C (p.Gly652Ala)
dbSNP gnomAD v2 gnomAD v4
10g.74101027G=CA1919893132VCLc.1952G= (p.Gly651=)
c.968G= (p.Gly323=)
n.332-27G=
n.4755G=
c.*1707G= (n.*1707G=)
c.1955G= (p.Gly652=)
10g.74101027G>TCA377260679VCLc.1952G>T (p.Gly651Val)
c.968G>T (p.Gly323Val)
n.332-27G>T
n.4755G>T
c.*1707G>T (n.*1707G>T)
c.1955G>T (p.Gly652Val)
10g.74101028T>ACA470162786VCLc.1953T>A (p.Gly651=)
c.969T>A (p.Gly323=)
n.332-26T>A
n.4756T>A
c.*1708T>A (n.*1708T>A)
c.1956T>A (p.Gly652=)
10g.74101028T>CCA470162787VCLc.1953T>C (p.Gly651=)
c.969T>C (p.Gly323=)
n.332-26T>C
n.4756T>C
c.*1708T>C (n.*1708T>C)
c.1956T>C (p.Gly652=)
10g.74101028T>GCA470162788VCLc.1953T>G (p.Gly651=)
c.969T>G (p.Gly323=)
n.332-26T>G
n.4756T>G
c.*1708T>G (n.*1708T>G)
c.1956T>G (p.Gly652=)
10g.74101029A>CCA377260685VCLc.1954A>C (p.Thr652Pro)
c.970A>C (p.Thr324Pro)
n.332-25A>C
n.4757A>C
c.*1709A>C (n.*1709A>C)
c.1957A>C (p.Thr653Pro)
10g.74101029A>GCA377260683VCLc.1954A>G (p.Thr652Ala)
c.970A>G (p.Thr324Ala)
n.332-25A>G
n.4757A>G
c.*1709A>G (n.*1709A>G)
c.1957A>G (p.Thr653Ala)
10g.74101029A>TCA377260681VCLc.1954A>T (p.Thr652Ser)
c.970A>T (p.Thr324Ser)
n.332-25A>T
n.4757A>T
c.*1709A>T (n.*1709A>T)
c.1957A>T (p.Thr653Ser)
10g.74101030C>ACA377260687VCLc.1955C>A (p.Thr652Asn)
c.971C>A (p.Thr324Asn)
n.332-24C>A
n.4758C>A
c.*1710C>A (n.*1710C>A)
c.1958C>A (p.Thr653Asn)
10g.74101030C>GCA377260689VCLc.1955C>G (p.Thr652Ser)
c.971C>G (p.Thr324Ser)
n.332-24C>G
n.4758C>G
c.*1710C>G (n.*1710C>G)
c.1958C>G (p.Thr653Ser)
10g.74101030C>TCA377260690VCLc.1955C>T (p.Thr652Ile)
c.971C>T (p.Thr324Ile)
n.332-24C>T
n.4758C>T
c.*1710C>T (n.*1710C>T)
c.1958C>T (p.Thr653Ile)
gnomAD v4
10g.74101031T>ACA470162792VCLc.1956T>A (p.Thr652=)
c.972T>A (p.Thr324=)
n.332-23T>A
n.4759T>A
c.*1711T>A (n.*1711T>A)
c.1959T>A (p.Thr653=)
10g.74101031T>CCA5563128VCLc.1956T>C (p.Thr652=)
c.972T>C (p.Thr324=)
n.332-23T>C
n.4759T>C
c.*1711T>C (n.*1711T>C)
c.1959T>C (p.Thr653=)
dbSNP ExAC gnomAD v4
10g.74101031T>GCA470162793VCLc.1956T>G (p.Thr652=)
c.972T>G (p.Thr324=)
n.332-23T>G
n.4759T>G
c.*1711T>G (n.*1711T>G)
c.1959T>G (p.Thr653=)
10g.74101031T=CA1919893136VCLc.1956T= (p.Thr652=)
c.972T= (p.Thr324=)
n.332-23T=
n.4759T=
c.*1711T= (n.*1711T=)
c.1959T= (p.Thr653=)
10g.74101032G>ACA377260693VCLc.1957G>A (p.Ala653Thr)
c.973G>A (p.Ala325Thr)
n.332-22G>A
n.4760G>A
c.*1712G>A (n.*1712G>A)
c.1960G>A (p.Ala654Thr)
10g.74101032G>CCA377260694VCLc.1957G>C (p.Ala653Pro)
c.973G>C (p.Ala325Pro)
n.332-22G>C
n.4760G>C
c.*1712G>C (n.*1712G>C)
c.1960G>C (p.Ala654Pro)
10g.74101032G>TCA377260696VCLc.1957G>T (p.Ala653Ser)
c.973G>T (p.Ala325Ser)
n.332-22G>T
n.4760G>T
c.*1712G>T (n.*1712G>T)
c.1960G>T (p.Ala654Ser)
10g.74101033C>ACA377260698VCLc.1958C>A (p.Ala653Asp)
c.974C>A (p.Ala325Asp)
n.332-21C>A
n.4761C>A
c.*1713C>A (n.*1713C>A)
c.1961C>A (p.Ala654Asp)
10g.74101033C>GCA377260699VCLc.1958C>G (p.Ala653Gly)
c.974C>G (p.Ala325Gly)
n.332-21C>G
n.4761C>G
c.*1713C>G (n.*1713C>G)
c.1961C>G (p.Ala654Gly)
10g.74101033C>TCA377260701VCLc.1958C>T (p.Ala653Val)
c.974C>T (p.Ala325Val)
n.332-21C>T
n.4761C>T
c.*1713C>T (n.*1713C>T)
c.1961C>T (p.Ala654Val)
10g.74101034T>ACA470162796VCLc.1959T>A (p.Ala653=)
c.975T>A (p.Ala325=)
n.332-20T>A
n.4762T>A
c.*1714T>A (n.*1714T>A)
c.1962T>A (p.Ala654=)
10g.74101034T>CCA470162795VCLc.1959T>C (p.Ala653=)
c.975T>C (p.Ala325=)
n.332-20T>C
n.4762T>C
c.*1714T>C (n.*1714T>C)
c.1962T>C (p.Ala654=)
10g.74101034T>GCA470162794VCLc.1959T>G (p.Ala653=)
c.975T>G (p.Ala325=)
n.332-20T>G
n.4762T>G
c.*1714T>G (n.*1714T>G)
c.1962T>G (p.Ala654=)
10g.74101035A>CCA377260703VCLc.1960A>C (p.Asn654His)
c.976A>C (p.Asn326His)
n.332-19A>C
n.4763A>C
c.*1715A>C (n.*1715A>C)
c.1963A>C (p.Asn655His)
10g.74101035A>GCA377260704VCLc.1960A>G (p.Asn654Asp)
c.976A>G (p.Asn326Asp)
n.332-19A>G
n.4763A>G
c.*1715A>G (n.*1715A>G)
c.1963A>G (p.Asn655Asp)
10g.74101035A>TCA377260706VCLc.1960A>T (p.Asn654Tyr)
c.976A>T (p.Asn326Tyr)
n.332-19A>T
n.4763A>T
c.*1715A>T (n.*1715A>T)
c.1963A>T (p.Asn655Tyr)
10g.74101036A=CA1919893139VCLc.1961A= (p.Asn654=)
c.977A= (p.Asn326=)
n.332-18A=
n.4764A=
c.*1716A= (n.*1716A=)
c.1964A= (p.Asn655=)
10g.74101036A>CCA377260710VCLc.1961A>C (p.Asn654Thr)
c.977A>C (p.Asn326Thr)
n.332-18A>C
n.4764A>C
c.*1716A>C (n.*1716A>C)
c.1964A>C (p.Asn655Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.74101036A>GCA377260712VCLc.1961A>G (p.Asn654Ser)
c.977A>G (p.Asn326Ser)
n.332-18A>G
n.4764A>G
c.*1716A>G (n.*1716A>G)
c.1964A>G (p.Asn655Ser)
ClinVar dbSNP
10g.74101036A>TCA377260709VCLc.1961A>T (p.Asn654Ile)
c.977A>T (p.Asn326Ile)
n.332-18A>T
n.4764A>T
c.*1716A>T (n.*1716A>T)
c.1964A>T (p.Asn655Ile)
10g.74101037T>ACA377260715VCLc.1962T>A (p.Asn654Lys)
c.978T>A (p.Asn326Lys)
n.332-17T>A
n.4765T>A
c.*1717T>A (n.*1717T>A)
c.1965T>A (p.Asn655Lys)
10g.74101037T>CCA470162797VCLc.1962T>C (p.Asn654=)
c.978T>C (p.Asn326=)
n.332-17T>C
n.4765T>C
c.*1717T>C (n.*1717T>C)
c.1965T>C (p.Asn655=)
10g.74101037T>GCA377260716VCLc.1962T>G (p.Asn654Lys)
c.978T>G (p.Asn326Lys)
n.332-17T>G
n.4765T>G
c.*1717T>G (n.*1717T>G)
c.1965T>G (p.Asn655Lys)
10g.74101038A>CCA377260718VCLc.1963A>C (p.Lys655Gln)
c.979A>C (p.Lys327Gln)
n.332-16A>C
n.4766A>C
c.*1718A>C (n.*1718A>C)
c.1966A>C (p.Lys656Gln)
10g.74101038A>GCA377260720VCLc.1963A>G (p.Lys655Glu)
c.979A>G (p.Lys327Glu)
n.332-16A>G
n.4766A>G
c.*1718A>G (n.*1718A>G)
c.1966A>G (p.Lys656Glu)
10g.74101038A>TCA377260721VCLc.1963A>T (p.Lys655Ter)
c.979A>T (p.Lys327Ter)
n.332-16A>T
n.4766A>T
c.*1718A>T (n.*1718A>T)
c.1966A>T (p.Lys656Ter)
10g.74101039A>CCA377260722VCLc.1964A>C (p.Lys655Thr)
c.980A>C (p.Lys327Thr)
n.332-15A>C
n.4767A>C
c.*1719A>C (n.*1719A>C)
c.1967A>C (p.Lys656Thr)
10g.74101039A>GCA377260723VCLc.1964A>G (p.Lys655Arg)
c.980A>G (p.Lys327Arg)
n.332-15A>G
n.4767A>G
c.*1719A>G (n.*1719A>G)
c.1967A>G (p.Lys656Arg)
10g.74101039A>TCA377260726VCLc.1964A>T (p.Lys655Ile)
c.980A>T (p.Lys327Ile)
n.332-15A>T
n.4767A>T
c.*1719A>T (n.*1719A>T)
c.1967A>T (p.Lys656Ile)
10g.74101040A>CCA377260728VCLc.1965A>C (p.Lys655Asn)
c.981A>C (p.Lys327Asn)
n.332-14A>C
n.4768A>C
c.*1720A>C (n.*1720A>C)
c.1968A>C (p.Lys656Asn)
10g.74101040A>GCA470162801VCLc.1965A>G (p.Lys655=)
c.981A>G (p.Lys327=)
n.332-14A>G
n.4768A>G
c.*1720A>G (n.*1720A>G)
c.1968A>G (p.Lys656=)
ClinVar dbSNP
10g.74101040A>TCA377260729VCLc.1965A>T (p.Lys655Asn)
c.981A>T (p.Lys327Asn)
n.332-14A>T
n.4768A>T
c.*1720A>T (n.*1720A>T)
c.1968A>T (p.Lys656Asn)
10g.74101041T>ACA377260732VCLc.1966T>A (p.Ser656Thr)
c.982T>A (p.Ser328Thr)
n.332-13T>A
n.4769T>A
c.*1721T>A (n.*1721T>A)
c.1969T>A (p.Ser657Thr)
dbSNP
10g.74101041T>CCA377260733VCLc.1966T>C (p.Ser656Pro)
c.982T>C (p.Ser328Pro)
n.332-13T>C
n.4769T>C
c.*1721T>C (n.*1721T>C)
c.1969T>C (p.Ser657Pro)
10g.74101041T>GCA377260734VCLc.1966T>G (p.Ser656Ala)
c.982T>G (p.Ser328Ala)
n.332-13T>G
n.4769T>G
c.*1721T>G (n.*1721T>G)
c.1969T>G (p.Ser657Ala)
10g.74101041T=CA1919893146VCLc.1966T= (p.Ser656=)
c.982T= (p.Ser328=)
n.332-13T=
n.4769T=
c.*1721T= (n.*1721T=)
c.1969T= (p.Ser657=)
10g.74101042C>ACA377260735VCLc.1967C>A (p.Ser656Ter)
c.983C>A (p.Ser328Ter)
n.332-12C>A
n.4770C>A
c.*1722C>A (n.*1722C>A)
c.1970C>A (p.Ser657Ter)
10g.74101042C>GCA377260736VCLc.1967C>G (p.Ser656Ter)
c.983C>G (p.Ser328Ter)
n.332-12C>G
n.4770C>G
c.*1722C>G (n.*1722C>G)
c.1970C>G (p.Ser657Ter)
10g.74101042C>TCA377260737VCLc.1967C>T (p.Ser656Leu)
c.983C>T (p.Ser328Leu)
n.332-12C>T
n.4770C>T
c.*1722C>T (n.*1722C>T)
c.1970C>T (p.Ser657Leu)
10g.74101043A>CCA470162804VCLc.1968A>C (p.Ser656=)
c.984A>C (p.Ser328=)
n.332-11A>C
n.4771A>C
c.*1723A>C (n.*1723A>C)
c.1971A>C (p.Ser657=)
10g.74101043A>GCA470162805VCLc.1968A>G (p.Ser656=)
c.984A>G (p.Ser328=)
n.332-11A>G
n.4771A>G
c.*1723A>G (n.*1723A>G)
c.1971A>G (p.Ser657=)
10g.74101043A>TCA470162806VCLc.1968A>T (p.Ser656=)
c.984A>T (p.Ser328=)
n.332-11A>T
n.4771A>T
c.*1723A>T (n.*1723A>T)
c.1971A>T (p.Ser657=)
10g.74101044A=CA1919893150VCLc.1969A= (p.Thr657=)
c.985A= (p.Thr329=)
n.332-10A=
n.4772A=
c.*1724A= (n.*1724A=)
c.1972A= (p.Thr658=)
10g.74101044A>CCA377260739VCLc.1969A>C (p.Thr657Pro)
c.985A>C (p.Thr329Pro)
n.332-10A>C
n.4772A>C
c.*1724A>C (n.*1724A>C)
c.1972A>C (p.Thr658Pro)
10g.74101044A>GCA5563129VCLc.1969A>G (p.Thr657Ala)
c.985A>G (p.Thr329Ala)
n.332-10A>G
n.4772A>G
c.*1724A>G (n.*1724A>G)
c.1972A>G (p.Thr658Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.74101044A>TCA377260740VCLc.1969A>T (p.Thr657Ser)
c.985A>T (p.Thr329Ser)
n.332-10A>T
n.4772A>T
c.*1724A>T (n.*1724A>T)
c.1972A>T (p.Thr658Ser)
10g.74101045C>ACA377260743VCLc.1970C>A (p.Thr657Lys)
c.986C>A (p.Thr329Lys)
n.332-9C>A
n.4773C>A
c.*1725C>A (n.*1725C>A)
c.1973C>A (p.Thr658Lys)
10g.74101045C=CA1919893153VCLc.1970C= (p.Thr657=)
c.986C= (p.Thr329=)
n.332-9C=
n.4773C=
c.*1725C= (n.*1725C=)
c.1973C= (p.Thr658=)
10g.74101045C>GCA377260744VCLc.1970C>G (p.Thr657Arg)
c.986C>G (p.Thr329Arg)
n.332-9C>G
n.4773C>G
c.*1725C>G (n.*1725C>G)
c.1973C>G (p.Thr658Arg)
10g.74101045C>TCA5563130VCLc.1970C>T (p.Thr657Ile)
c.986C>T (p.Thr329Ile)
n.332-9C>T
n.4773C>T
c.*1725C>T (n.*1725C>T)
c.1973C>T (p.Thr658Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.74101046A>CCA470162807VCLc.1971A>C (p.Thr657=)
c.987A>C (p.Thr329=)
n.332-8A>C
n.4774A>C
c.*1726A>C (n.*1726A>C)
c.1974A>C (p.Thr658=)
dbSNP
10g.74101046A>GCA470162809VCLc.1971A>G (p.Thr657=)
c.987A>G (p.Thr329=)
n.332-8A>G
n.4774A>G
c.*1726A>G (n.*1726A>G)
c.1974A>G (p.Thr658=)
10g.74101046A>TCA470162811VCLc.1971A>T (p.Thr657=)
c.987A>T (p.Thr329=)
n.332-8A>T
n.4774A>T
c.*1726A>T (n.*1726A>T)
c.1974A>T (p.Thr658=)
10g.74101047G>ACA377260747VCLc.1972G>A (p.Val658Met)
c.988G>A (p.Val330Met)
n.332-7G>A
n.4775G>A
c.*1727G>A (n.*1727G>A)
c.1975G>A (p.Val659Met)
ClinVar dbSNP
10g.74101047G>CCA377260749VCLc.1972G>C (p.Val658Leu)
c.988G>C (p.Val330Leu)
n.332-7G>C
n.4775G>C
c.*1727G>C (n.*1727G>C)
c.1975G>C (p.Val659Leu)
gnomAD v4
10g.74101047G>TCA377260754VCLc.1972G>T (p.Val658Leu)
c.988G>T (p.Val330Leu)
n.332-7G>T
n.4775G>T
c.*1727G>T (n.*1727G>T)
c.1975G>T (p.Val659Leu)
10g.74101048T>ACA377260757VCLc.1973T>A (p.Val658Glu)
c.989T>A (p.Val330Glu)
n.332-6T>A
n.4776T>A
c.*1728T>A (n.*1728T>A)
c.1976T>A (p.Val659Glu)
10g.74101048T>CCA184767VCLc.1973T>C (p.Val658Ala)
c.989T>C (p.Val330Ala)
n.332-6T>C
n.4776T>C
c.*1728T>C (n.*1728T>C)
c.1976T>C (p.Val659Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74101048T>GCA377260761VCLc.1973T>G (p.Val658Gly)
c.989T>G (p.Val330Gly)
n.332-6T>G
n.4776T>G
c.*1728T>G (n.*1728T>G)
c.1976T>G (p.Val659Gly)
10g.74101048T=CA1919893160VCLc.1973T= (p.Val658=)
c.989T= (p.Val330=)
n.332-6T=
n.4776T=
c.*1728T= (n.*1728T=)
c.1976T= (p.Val659=)
10g.74101049G>ACA470162813VCLc.1974G>A (p.Val658=)
c.990G>A (p.Val330=)
n.332-5G>A
n.4777G>A
c.*1729G>A (n.*1729G>A)
c.1977G>A (p.Val659=)
dbSNP
10g.74101049G>CCA470162814VCLc.1974G>C (p.Val658=)
c.990G>C (p.Val330=)
n.332-5G>C
n.4777G>C
c.*1729G>C (n.*1729G>C)
c.1977G>C (p.Val659=)
10g.74101049G=CA1919893164VCLc.1974G= (p.Val658=)
c.990G= (p.Val330=)
n.332-5G=
n.4777G=
c.*1729G= (n.*1729G=)
c.1977G= (p.Val659=)
10g.74101049G>TCA470162815VCLc.1974G>T (p.Val658=)
c.990G>T (p.Val330=)
n.332-5G>T
n.4777G>T
c.*1729G>T (n.*1729G>T)
c.1977G>T (p.Val659=)
10g.74101050G>ACA377260763VCLc.1975G>A (p.Glu659Lys)
c.991G>A (p.Glu331Lys)
n.332-4G>A
n.4778G>A
c.*1730G>A (n.*1730G>A)
c.1978G>A (p.Glu660Lys)
dbSNP gnomAD v3 gnomAD v4
10g.74101050G>CCA377260765VCLc.1975G>C (p.Glu659Gln)
c.991G>C (p.Glu331Gln)
n.332-4G>C
n.4778G>C
c.*1730G>C (n.*1730G>C)
c.1978G>C (p.Glu660Gln)
10g.74101050G=CA1919893167VCLc.1975G= (p.Glu659=)
c.991G= (p.Glu331=)
n.332-4G=
n.4778G=
c.*1730G= (n.*1730G=)
c.1978G= (p.Glu660=)
10g.74101050G>TCA377260773VCLc.1975G>T (p.Glu659Ter)
c.991G>T (p.Glu331Ter)
n.332-4G>T
n.4778G>T
c.*1730G>T (n.*1730G>T)
c.1978G>T (p.Glu660Ter)
10g.74101051A>CCA377260778VCLc.1976A>C (p.Glu659Ala)
c.992A>C (p.Glu331Ala)
n.332-3A>C
n.4779A>C
c.*1731A>C (n.*1731A>C)
c.1979A>C (p.Glu660Ala)
10g.74101051A>GCA377260774VCLc.1976A>G (p.Glu659Gly)
c.992A>G (p.Glu331Gly)
n.332-3A>G
n.4779A>G
c.*1731A>G (n.*1731A>G)
c.1979A>G (p.Glu660Gly)
gnomAD v4
10g.74101051A>TCA377260776VCLc.1976A>T (p.Glu659Val)
c.992A>T (p.Glu331Val)
n.332-3A>T
n.4779A>T
c.*1731A>T (n.*1731A>T)
c.1979A>T (p.Glu660Val)
10g.74101052A>CCA377260781VCLc.1977A>C (p.Glu659Asp)
c.993A>C (p.Glu331Asp)
n.332-2A>C
n.4780A>C
c.*1732A>C (n.*1732A>C)
c.1980A>C (p.Glu660Asp)
10g.74101052A>GCA470162819VCLc.1977A>G (p.Glu659=)
c.993A>G (p.Glu331=)
n.332-2A>G
n.4780A>G
c.*1732A>G (n.*1732A>G)
c.1980A>G (p.Glu660=)
gnomAD v4
10g.74101052A>TCA377260783VCLc.1977A>T (p.Glu659Asp)
c.993A>T (p.Glu331Asp)
n.332-2A>T
n.4780A>T
c.*1732A>T (n.*1732A>T)
c.1980A>T (p.Glu660Asp)
10g.74101053G>ACA377260786VCLc.1978G>A (p.Gly660Ser)
c.994G>A (p.Gly332Ser)
n.332-1G>A
n.4781G>A
c.*1733G>A (n.*1733G>A)
c.1981G>A (p.Gly661Ser)
dbSNP
10g.74101053G>CCA377260788VCLc.1978G>C (p.Gly660Arg)
c.994G>C (p.Gly332Arg)
n.332-1G>C
n.4781G>C
c.*1733G>C (n.*1733G>C)
c.1981G>C (p.Gly661Arg)
10g.74101053G=CA1919893170VCLc.1978G= (p.Gly660=)
c.994G= (p.Gly332=)
n.332-1G=
n.4781G=
c.*1733G= (n.*1733G=)
c.1981G= (p.Gly661=)
10g.74101053G>TCA377260790VCLc.1978G>T (p.Gly660Cys)
c.994G>T (p.Gly332Cys)
n.332-1G>T
n.4781G>T
c.*1733G>T (n.*1733G>T)
c.1981G>T (p.Gly661Cys)
10g.74101054G>ACA377260793VCLc.1979G>A (p.Gly660Asp)
c.995G>A (p.Gly332Asp)
n.332G>A
n.4782G>A
c.*1734G>A (n.*1734G>A)
c.1982G>A (p.Gly661Asp)
10g.74101054G>CCA377260794VCLc.1979G>C (p.Gly660Ala)
c.995G>C (p.Gly332Ala)
n.332G>C
n.4782G>C
c.*1734G>C (n.*1734G>C)
c.1982G>C (p.Gly661Ala)
10g.74101054G>TCA377260797VCLc.1979G>T (p.Gly660Val)
c.995G>T (p.Gly332Val)
n.332G>T
n.4782G>T
c.*1734G>T (n.*1734G>T)
c.1982G>T (p.Gly661Val)
10g.74101055C>ACA470162821VCLc.1980C>A (p.Gly660=)
c.996C>A (p.Gly332=)
n.333C>A
n.4783C>A
c.*1735C>A (n.*1735C>A)
c.1983C>A (p.Gly661=)
10g.74101055C>GCA470162822VCLc.1980C>G (p.Gly660=)
c.996C>G (p.Gly332=)
n.333C>G
n.4783C>G
c.*1735C>G (n.*1735C>G)
c.1983C>G (p.Gly661=)
10g.74101055C>TCA470162823VCLc.1980C>T (p.Gly660=)
c.996C>T (p.Gly332=)
n.333C>T
n.4783C>T
c.*1735C>T (n.*1735C>T)
c.1983C>T (p.Gly661=)
10g.74101056A>CCA377260801VCLc.1981A>C (p.Ile661Leu)
c.997A>C (p.Ile333Leu)
n.334A>C
n.4784A>C
c.*1736A>C (n.*1736A>C)
c.1984A>C (p.Ile662Leu)
10g.74101056A>GCA377260806VCLc.1981A>G (p.Ile661Val)
c.997A>G (p.Ile333Val)
n.334A>G
n.4784A>G
c.*1736A>G (n.*1736A>G)
c.1984A>G (p.Ile662Val)
10g.74101056A>TCA377260804VCLc.1981A>T (p.Ile661Phe)
c.997A>T (p.Ile333Phe)
n.334A>T
n.4784A>T
c.*1736A>T (n.*1736A>T)
c.1984A>T (p.Ile662Phe)
10g.74101057T>ACA377260808VCLc.1982T>A (p.Ile661Asn)
c.998T>A (p.Ile333Asn)
n.335T>A
n.4785T>A
c.*1737T>A (n.*1737T>A)
c.1985T>A (p.Ile662Asn)
10g.74101057T>CCA377260811VCLc.1982T>C (p.Ile661Thr)
c.998T>C (p.Ile333Thr)
n.335T>C
n.4785T>C
c.*1737T>C (n.*1737T>C)
c.1985T>C (p.Ile662Thr)
10g.74101057T>GCA377260822VCLc.1982T>G (p.Ile661Ser)
c.998T>G (p.Ile333Ser)
n.335T>G
n.4785T>G
c.*1737T>G (n.*1737T>G)
c.1985T>G (p.Ile662Ser)
10g.74101058T>ACA470162824VCLc.1983T>A (p.Ile661=)
c.999T>A (p.Ile333=)
n.336T>A
n.4786T>A
c.*1738T>A (n.*1738T>A)
c.1986T>A (p.Ile662=)
10g.74101058T>CCA470162825VCLc.1983T>C (p.Ile661=)
c.999T>C (p.Ile333=)
n.336T>C
n.4786T>C
c.*1738T>C (n.*1738T>C)
c.1986T>C (p.Ile662=)
10g.74101058T>GCA377260825VCLc.1983T>G (p.Ile661Met)
c.999T>G (p.Ile333Met)
n.336T>G
n.4786T>G
c.*1738T>G (n.*1738T>G)
c.1986T>G (p.Ile662Met)
10g.74101059C>ACA377260828VCLc.1984C>A (p.Gln662Lys)
c.1000C>A (p.Gln334Lys)
n.337C>A
n.4787C>A
c.*1739C>A (n.*1739C>A)
c.1987C>A (p.Gln663Lys)
10g.74101059C>GCA377260830VCLc.1984C>G (p.Gln662Glu)
c.1000C>G (p.Gln334Glu)
n.337C>G
n.4787C>G
c.*1739C>G (n.*1739C>G)
c.1987C>G (p.Gln663Glu)
10g.74101059C>TCA377260829VCLc.1984C>T (p.Gln662Ter)
c.1000C>T (p.Gln334Ter)
n.337C>T
n.4787C>T
c.*1739C>T (n.*1739C>T)
c.1987C>T (p.Gln663Ter)
10g.74101060A=CA1919893173VCLc.1985A= (p.Gln662=)
c.1001A= (p.Gln334=)
n.338A=
n.4788A=
c.*1740A= (n.*1740A=)
c.1988A= (p.Gln663=)
10g.74101060A>CCA377260831VCLc.1985A>C (p.Gln662Pro)
c.1001A>C (p.Gln334Pro)
n.338A>C
n.4788A>C
c.*1740A>C (n.*1740A>C)
c.1988A>C (p.Gln663Pro)
10g.74101060A>GCA377260832VCLc.1985A>G (p.Gln662Arg)
c.1001A>G (p.Gln334Arg)
n.338A>G
n.4788A>G
c.*1740A>G (n.*1740A>G)
c.1988A>G (p.Gln663Arg)
dbSNP gnomAD v2 gnomAD v4
10g.74101060A>TCA377260833VCLc.1985A>T (p.Gln662Leu)
c.1001A>T (p.Gln334Leu)
n.338A>T
n.4788A>T
c.*1740A>T (n.*1740A>T)
c.1988A>T (p.Gln663Leu)
10g.74101061G>ACA470162829VCLc.1986G>A (p.Gln662=)
c.1002G>A (p.Gln334=)
n.339G>A
n.4789G>A
c.*1741G>A (n.*1741G>A)
c.1989G>A (p.Gln663=)
dbSNP
10g.74101061G>CCA377260835VCLc.1986G>C (p.Gln662His)
c.1002G>C (p.Gln334His)
n.339G>C
n.4789G>C
c.*1741G>C (n.*1741G>C)
c.1989G>C (p.Gln663His)
10g.74101061G>TCA377260836VCLc.1986G>T (p.Gln662His)
c.1002G>T (p.Gln334His)
n.339G>T
n.4789G>T
c.*1741G>T (n.*1741G>T)
c.1989G>T (p.Gln663His)
10g.74101062G>ACA377260838VCLc.1987G>A (p.Ala663Thr)
c.1003G>A (p.Ala335Thr)
n.340G>A
n.4790G>A
c.*1742G>A (n.*1742G>A)
c.1990G>A (p.Ala664Thr)
gnomAD v4
10g.74101062G>CCA377260840VCLc.1987G>C (p.Ala663Pro)
c.1003G>C (p.Ala335Pro)
n.340G>C
n.4790G>C
c.*1742G>C (n.*1742G>C)
c.1990G>C (p.Ala664Pro)
10g.74101062G>TCA377260844VCLc.1987G>T (p.Ala663Ser)
c.1003G>T (p.Ala335Ser)
n.340G>T
n.4790G>T
c.*1742G>T (n.*1742G>T)
c.1990G>T (p.Ala664Ser)
10g.74101063C>ACA377260845VCLc.1988C>A (p.Ala663Asp)
c.1004C>A (p.Ala335Asp)
n.341C>A
n.4791C>A
c.*1743C>A (n.*1743C>A)
c.1991C>A (p.Ala664Asp)
dbSNP gnomAD v3 gnomAD v4
10g.74101063C=CA1919893175VCLc.1988C= (p.Ala663=)
c.1004C= (p.Ala335=)
n.341C=
n.4791C=
c.*1743C= (n.*1743C=)
c.1991C= (p.Ala664=)
10g.74101063C>GCA377260847VCLc.1988C>G (p.Ala663Gly)
c.1004C>G (p.Ala335Gly)
n.341C>G
n.4791C>G
c.*1743C>G (n.*1743C>G)
c.1991C>G (p.Ala664Gly)
10g.74101063C>TCA377260849VCLc.1988C>T (p.Ala663Val)
c.1004C>T (p.Ala335Val)
n.341C>T
n.4791C>T
c.*1743C>T (n.*1743C>T)
c.1991C>T (p.Ala664Val)
10g.74101064C>ACA470162831VCLc.1989C>A (p.Ala663=)
c.1005C>A (p.Ala335=)
n.342C>A
n.4792C>A
c.*1744C>A (n.*1744C>A)
c.1992C>A (p.Ala664=)
gnomAD v4
10g.74101064C>GCA470162832VCLc.1989C>G (p.Ala663=)
c.1005C>G (p.Ala335=)
n.342C>G
n.4792C>G
c.*1744C>G (n.*1744C>G)
c.1992C>G (p.Ala664=)
10g.74101064C>TCA470162833VCLc.1989C>T (p.Ala663=)
c.1005C>T (p.Ala335=)
n.342C>T
n.4792C>T
c.*1744C>T (n.*1744C>T)
c.1992C>T (p.Ala664=)
10g.74101065T>ACA377260851VCLc.1990T>A (p.Ser664Thr)
c.1006T>A (p.Ser336Thr)
n.343T>A
n.4793T>A
c.*1745T>A (n.*1745T>A)
c.1993T>A (p.Ser665Thr)
10g.74101065T>CCA377260854VCLc.1990T>C (p.Ser664Pro)
c.1006T>C (p.Ser336Pro)
n.343T>C
n.4793T>C
c.*1745T>C (n.*1745T>C)
c.1993T>C (p.Ser665Pro)
10g.74101065T>GCA377260852VCLc.1990T>G (p.Ser664Ala)
c.1006T>G (p.Ser336Ala)
n.343T>G
n.4793T>G
c.*1745T>G (n.*1745T>G)
c.1993T>G (p.Ser665Ala)
10g.74101066C>ACA377260855VCLc.1991C>A (p.Ser664Ter)
c.1007C>A (p.Ser336Ter)
n.344C>A
n.4794C>A
c.*1746C>A (n.*1746C>A)
c.1994C>A (p.Ser665Ter)
10g.74101066C>GCA377260857VCLc.1991C>G (p.Ser664Ter)
c.1007C>G (p.Ser336Ter)
n.344C>G
n.4794C>G
c.*1746C>G (n.*1746C>G)
c.1994C>G (p.Ser665Ter)
10g.74101066C>TCA377260856VCLc.1991C>T (p.Ser664Leu)
c.1007C>T (p.Ser336Leu)
n.344C>T
n.4794C>T
c.*1746C>T (n.*1746C>T)
c.1994C>T (p.Ser665Leu)
10g.74101067A>CCA470162834VCLc.1992A>C (p.Ser664=)
c.1008A>C (p.Ser336=)
n.345A>C
n.4795A>C
c.*1747A>C (n.*1747A>C)
c.1995A>C (p.Ser665=)
10g.74101067A>GCA470162837VCLc.1992A>G (p.Ser664=)
c.1008A>G (p.Ser336=)
n.345A>G
n.4795A>G
c.*1747A>G (n.*1747A>G)
c.1995A>G (p.Ser665=)
10g.74101067A>TCA470162835VCLc.1992A>T (p.Ser664=)
c.1008A>T (p.Ser336=)
n.345A>T
n.4795A>T
c.*1747A>T (n.*1747A>T)
c.1995A>T (p.Ser665=)
10g.74101068G>ACA377260859VCLc.1993G>A (p.Val665Met)
c.1009G>A (p.Val337Met)
n.346G>A
n.4796G>A
c.*1748G>A (n.*1748G>A)
c.1996G>A (p.Val666Met)
10g.74101068G>CCA5563131VCLc.1993G>C (p.Val665Leu)
c.1009G>C (p.Val337Leu)
n.346G>C
n.4796G>C
c.*1748G>C (n.*1748G>C)
c.1996G>C (p.Val666Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.74101068G=CA1919893180VCLc.1993G= (p.Val665=)
c.1009G= (p.Val337=)
n.346G=
n.4796G=
c.*1748G= (n.*1748G=)
c.1996G= (p.Val666=)
10g.74101068G>TCA377260862VCLc.1993G>T (p.Val665Leu)
c.1009G>T (p.Val337Leu)
n.346G>T
n.4796G>T
c.*1748G>T (n.*1748G>T)
c.1996G>T (p.Val666Leu)
10g.74101069T>ACA377260863VCLc.1994T>A (p.Val665Glu)
c.1010T>A (p.Val337Glu)
n.347T>A
n.4797T>A
c.*1749T>A (n.*1749T>A)
c.1997T>A (p.Val666Glu)
10g.74101069T>CCA377260864VCLc.1994T>C (p.Val665Ala)
c.1010T>C (p.Val337Ala)
n.347T>C
n.4797T>C
c.*1749T>C (n.*1749T>C)
c.1997T>C (p.Val666Ala)
gnomAD v4
10g.74101069T>GCA377260865VCLc.1994T>G (p.Val665Gly)
c.1010T>G (p.Val337Gly)
n.347T>G
n.4797T>G
c.*1749T>G (n.*1749T>G)
c.1997T>G (p.Val666Gly)
10g.74101070G>ACA470162840VCLc.1995G>A (p.Val665=)
c.1011G>A (p.Val337=)
n.348G>A
n.4798G>A
c.*1750G>A (n.*1750G>A)
c.1998G>A (p.Val666=)
10g.74101070G>CCA470162841VCLc.1995G>C (p.Val665=)
c.1011G>C (p.Val337=)
n.348G>C
n.4798G>C
c.*1750G>C (n.*1750G>C)
c.1998G>C (p.Val666=)
10g.74101070G>TCA470162842VCLc.1995G>T (p.Val665=)
c.1011G>T (p.Val337=)
n.348G>T
n.4798G>T
c.*1750G>T (n.*1750G>T)
c.1998G>T (p.Val666=)
10g.74101071A>CCA377260867VCLc.1996A>C (p.Lys666Gln)
c.1012A>C (p.Lys338Gln)
n.349A>C
n.4799A>C
c.*1751A>C (n.*1751A>C)
c.1999A>C (p.Lys667Gln)
10g.74101071A>GCA377260868VCLc.1996A>G (p.Lys666Glu)
c.1012A>G (p.Lys338Glu)
n.349A>G
n.4799A>G
c.*1751A>G (n.*1751A>G)
c.1999A>G (p.Lys667Glu)
10g.74101071A>TCA377260869VCLc.1996A>T (p.Lys666Ter)
c.1012A>T (p.Lys338Ter)
n.349A>T
n.4799A>T
c.*1751A>T (n.*1751A>T)
c.1999A>T (p.Lys667Ter)
10g.74101072A>CCA377260871VCLc.1997A>C (p.Lys666Thr)
c.1013A>C (p.Lys338Thr)
n.350A>C
n.4800A>C
c.*1752A>C (n.*1752A>C)
c.2000A>C (p.Lys667Thr)
10g.74101072A>GCA377260874VCLc.1997A>G (p.Lys666Arg)
c.1013A>G (p.Lys338Arg)
n.350A>G
n.4800A>G
c.*1752A>G (n.*1752A>G)
c.2000A>G (p.Lys667Arg)
10g.74101072A>TCA377260876VCLc.1997A>T (p.Lys666Met)
c.1013A>T (p.Lys338Met)
n.350A>T
n.4800A>T
c.*1752A>T (n.*1752A>T)
c.2000A>T (p.Lys667Met)
10g.74101073G>ACA470162845VCLc.1998G>A (p.Lys666=)
c.1014G>A (p.Lys338=)
n.351G>A
n.4801G>A
c.*1753G>A (n.*1753G>A)
c.2001G>A (p.Lys667=)
10g.74101073G>CCA377260877VCLc.1998G>C (p.Lys666Asn)
c.1014G>C (p.Lys338Asn)
n.351G>C
n.4801G>C
c.*1753G>C (n.*1753G>C)
c.2001G>C (p.Lys667Asn)
10g.74101073G=CA1919893185VCLc.1998G= (p.Lys666=)
c.1014G= (p.Lys338=)
n.351G=
n.4801G=
c.*1753G= (n.*1753G=)
c.2001G= (p.Lys667=)
10g.74101073G>TCA10636334VCLc.1998G>T (p.Lys666Asn)
c.1014G>T (p.Lys338Asn)
n.351G>T
n.4801G>T
c.*1753G>T (n.*1753G>T)
c.2001G>T (p.Lys667Asn)
ClinVar dbSNP
10g.74101074A=CA1919893190VCLc.1999A= (p.Thr667=)
c.1015A= (p.Thr339=)
n.352A=
n.4802A=
c.*1754A= (n.*1754A=)
c.2002A= (p.Thr668=)
10g.74101074A>CCA377260878VCLc.1999A>C (p.Thr667Pro)
c.1015A>C (p.Thr339Pro)
n.352A>C
n.4802A>C
c.*1754A>C (n.*1754A>C)
c.2002A>C (p.Thr668Pro)
10g.74101074A>GCA377260883VCLc.1999A>G (p.Thr667Ala)
c.1015A>G (p.Thr339Ala)
n.352A>G
n.4802A>G
c.*1754A>G (n.*1754A>G)
c.2002A>G (p.Thr668Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.74101074A>TCA377260885VCLc.1999A>T (p.Thr667Ser)
c.1015A>T (p.Thr339Ser)
n.352A>T
n.4802A>T
c.*1754A>T (n.*1754A>T)
c.2002A>T (p.Thr668Ser)
10g.74101075C>ACA377260888VCLc.2000C>A (p.Thr667Lys)
c.1016C>A (p.Thr339Lys)
n.353C>A
n.4803C>A
c.*1755C>A (n.*1755C>A)
c.2003C>A (p.Thr668Lys)
ClinVar
10g.74101075C=CA1919893200VCLc.2000C= (p.Thr667=)
c.1016C= (p.Thr339=)
n.353C=
n.4803C=
c.*1755C= (n.*1755C=)
c.2003C= (p.Thr668=)
10g.74101075C>GCA377260890VCLc.2000C>G (p.Thr667Arg)
c.1016C>G (p.Thr339Arg)
n.353C>G
n.4803C>G
c.*1755C>G (n.*1755C>G)
c.2003C>G (p.Thr668Arg)
10g.74101075C>TCA335594VCLc.2000C>T (p.Thr667Met)
c.1016C>T (p.Thr339Met)
n.353C>T
n.4803C>T
c.*1755C>T (n.*1755C>T)
c.2003C>T (p.Thr668Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.74101076G>ACA5563132VCLc.2001G>A (p.Thr667=)
c.1017G>A (p.Thr339=)
n.354G>A
n.4804G>A
c.*1756G>A (n.*1756G>A)
c.2004G>A (p.Thr668=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74101076G>CCA470162848VCLc.2001G>C (p.Thr667=)
c.1017G>C (p.Thr339=)
n.354G>C
n.4804G>C
c.*1756G>C (n.*1756G>C)
c.2004G>C (p.Thr668=)
10g.74101076G=CA1919893206VCLc.2001G= (p.Thr667=)
c.1017G= (p.Thr339=)
n.354G=
n.4804G=
c.*1756G= (n.*1756G=)
c.2004G= (p.Thr668=)
10g.74101076G>TCA470162849VCLc.2001G>T (p.Thr667=)
c.1017G>T (p.Thr339=)
n.354G>T
n.4804G>T
c.*1756G>T (n.*1756G>T)
c.2004G>T (p.Thr668=)
dbSNP gnomAD v3 gnomAD v4
10g.74101077G>ACA377260900VCLc.2002G>A (p.Ala668Thr)
c.1018G>A (p.Ala340Thr)
n.355G>A
n.4805G>A
c.*1757G>A (n.*1757G>A)
c.2005G>A (p.Ala669Thr)
10g.74101077G>CCA377260901VCLc.2002G>C (p.Ala668Pro)
c.1018G>C (p.Ala340Pro)
n.355G>C
n.4805G>C
c.*1757G>C (n.*1757G>C)
c.2005G>C (p.Ala669Pro)
10g.74101077G>TCA377260902VCLc.2002G>T (p.Ala668Ser)
c.1018G>T (p.Ala340Ser)
n.355G>T
n.4805G>T
c.*1757G>T (n.*1757G>T)
c.2005G>T (p.Ala669Ser)
10g.74101078C>ACA377260903VCLc.2003C>A (p.Ala668Asp)
c.1019C>A (p.Ala340Asp)
n.356C>A
n.4806C>A
c.*1758C>A (n.*1758C>A)
c.2006C>A (p.Ala669Asp)
10g.74101078C>GCA377260904VCLc.2003C>G (p.Ala668Gly)
c.1019C>G (p.Ala340Gly)
n.356C>G
n.4806C>G
c.*1758C>G (n.*1758C>G)
c.2006C>G (p.Ala669Gly)
10g.74101078C>TCA377260905VCLc.2003C>T (p.Ala668Val)
c.1019C>T (p.Ala340Val)
n.356C>T
n.4806C>T
c.*1758C>T (n.*1758C>T)
c.2006C>T (p.Ala669Val)
10g.74101079C>ACA5563133VCLc.2004C>A (p.Ala668=)
c.1020C>A (p.Ala340=)
n.357C>A
n.4807C>A
c.*1759C>A (n.*1759C>A)
c.2007C>A (p.Ala669=)
dbSNP ExAC gnomAD v2
10g.74101079C=CA1919893210VCLc.2004C= (p.Ala668=)
c.1020C= (p.Ala340=)
n.357C=
n.4807C=
c.*1759C= (n.*1759C=)
c.2007C= (p.Ala669=)
10g.74101079C>GCA470162851VCLc.2004C>G (p.Ala668=)
c.1020C>G (p.Ala340=)
n.357C>G
n.4807C>G
c.*1759C>G (n.*1759C>G)
c.2007C>G (p.Ala669=)
10g.74101079C>TCA470162852VCLc.2004C>T (p.Ala668=)
c.1020C>T (p.Ala340=)
n.357C>T
n.4807C>T
c.*1759C>T (n.*1759C>T)
c.2007C>T (p.Ala669=)
10g.74101080C>ACA470162853VCLc.2005C>A (p.Arg669=)
c.1021C>A (p.Arg341=)
n.358C>A
n.4808C>A
c.*1760C>A (n.*1760C>A)
c.2008C>A (p.Arg670=)
ClinVar dbSNP gnomAD v4
10g.74101080C=CA1919893221VCLc.2005C= (p.Arg669=)
c.1021C= (p.Arg341=)
n.358C=
n.4808C=
c.*1760C= (n.*1760C=)
c.2008C= (p.Arg670=)
10g.74101080C>GCA377260906VCLc.2005C>G (p.Arg669Gly)
c.1021C>G (p.Arg341Gly)
n.358C>G
n.4808C>G
c.*1760C>G (n.*1760C>G)
c.2008C>G (p.Arg670Gly)
dbSNP gnomAD v4 COSMIC
10g.74101080C>TCA5563134VCLc.2005C>T (p.Arg669Ter)
c.1021C>T (p.Arg341Ter)
n.358C>T
n.4808C>T
c.*1760C>T (n.*1760C>T)
c.2008C>T (p.Arg670Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.74101081G>ACA5563136VCLc.2006G>A (p.Arg669Gln)
c.1022G>A (p.Arg341Gln)
n.359G>A
n.4809G>A
c.*1761G>A (n.*1761G>A)
c.2009G>A (p.Arg670Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74101081G>CCA377260907VCLc.2006G>C (p.Arg669Pro)
c.1022G>C (p.Arg341Pro)
n.359G>C
n.4809G>C
c.*1761G>C (n.*1761G>C)
c.2009G>C (p.Arg670Pro)
10g.74101081G=CA1919893226VCLc.2006G= (p.Arg669=)
c.1022G= (p.Arg341=)
n.359G=
n.4809G=
c.*1761G= (n.*1761G=)
c.2009G= (p.Arg670=)
10g.74101081G>TCA5563135VCLc.2006G>T (p.Arg669Leu)
c.1022G>T (p.Arg341Leu)
n.359G>T
n.4809G>T
c.*1761G>T (n.*1761G>T)
c.2009G>T (p.Arg670Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.74101082A=CA1919893233VCLc.2007A= (p.Arg669=)
c.1023A= (p.Arg341=)
n.360A=
n.4810A=
c.*1762A= (n.*1762A=)
c.2010A= (p.Arg670=)
10g.74101082A>CCA470162854VCLc.2007A>C (p.Arg669=)
c.1023A>C (p.Arg341=)
n.360A>C
n.4810A>C
c.*1762A>C (n.*1762A>C)
c.2010A>C (p.Arg670=)
10g.74101082A>GCA470162855VCLc.2007A>G (p.Arg669=)
c.1023A>G (p.Arg341=)
n.360A>G
n.4810A>G
c.*1762A>G (n.*1762A>G)
c.2010A>G (p.Arg670=)
dbSNP
10g.74101082A>TCA470162856VCLc.2007A>T (p.Arg669=)
c.1023A>T (p.Arg341=)
n.360A>T
n.4810A>T
c.*1762A>T (n.*1762A>T)
c.2010A>T (p.Arg670=)
10g.74101083G>ACA377260911VCLc.2008G>A (p.Glu670Lys)
c.1024G>A (p.Glu342Lys)
n.361G>A
n.4811G>A
c.*1763G>A (n.*1763G>A)
c.2011G>A (p.Glu671Lys)
10g.74101083G>CCA377260913VCLc.2008G>C (p.Glu670Gln)
c.1024G>C (p.Glu342Gln)
n.361G>C
n.4811G>C
c.*1763G>C (n.*1763G>C)
c.2011G>C (p.Glu671Gln)
10g.74101083G>TCA377260915VCLc.2008G>T (p.Glu670Ter)
c.1024G>T (p.Glu342Ter)
n.361G>T
n.4811G>T
c.*1763G>T (n.*1763G>T)
c.2011G>T (p.Glu671Ter)
gnomAD v4
10g.74101084A>CCA377260917VCLc.2009A>C (p.Glu670Ala)
c.1025A>C (p.Glu342Ala)
n.362A>C
n.4812A>C
c.*1764A>C (n.*1764A>C)
c.2012A>C (p.Glu671Ala)
10g.74101084A>GCA377260918VCLc.2009A>G (p.Glu670Gly)
c.1025A>G (p.Glu342Gly)
n.362A>G
n.4812A>G
c.*1764A>G (n.*1764A>G)
c.2012A>G (p.Glu671Gly)
10g.74101084A>TCA377260920VCLc.2009A>T (p.Glu670Val)
c.1025A>T (p.Glu342Val)
n.362A>T
n.4812A>T
c.*1764A>T (n.*1764A>T)
c.2012A>T (p.Glu671Val)
10g.74101085A>CCA377260924VCLc.2010A>C (p.Glu670Asp)
c.1026A>C (p.Glu342Asp)
n.363A>C
n.4813A>C
c.*1765A>C (n.*1765A>C)
c.2013A>C (p.Glu671Asp)
gnomAD v4
10g.74101085A>GCA470162860VCLc.2010A>G (p.Glu670=)
c.1026A>G (p.Glu342=)
n.363A>G
n.4813A>G
c.*1765A>G (n.*1765A>G)
c.2013A>G (p.Glu671=)
10g.74101085A>TCA377260925VCLc.2010A>T (p.Glu670Asp)
c.1026A>T (p.Glu342Asp)
n.363A>T
n.4813A>T
c.*1765A>T (n.*1765A>T)
c.2013A>T (p.Glu671Asp)
10g.74101086C>ACA377260927VCLc.2011C>A (p.Leu671Ile)
c.1027C>A (p.Leu343Ile)
n.364C>A
n.4814C>A
c.*1766C>A (n.*1766C>A)
c.2014C>A (p.Leu672Ile)
10g.74101086C>GCA377260928VCLc.2011C>G (p.Leu671Val)
c.1027C>G (p.Leu343Val)
n.364C>G
n.4814C>G
c.*1766C>G (n.*1766C>G)
c.2014C>G (p.Leu672Val)
10g.74101086C>TCA377260926VCLc.2011C>T (p.Leu671Phe)
c.1027C>T (p.Leu343Phe)
n.364C>T
n.4814C>T
c.*1766C>T (n.*1766C>T)
c.2014C>T (p.Leu672Phe)
10g.74101087T>ACA377260930VCLc.2012T>A (p.Leu671His)
c.1028T>A (p.Leu343His)
n.365T>A
n.4815T>A
c.*1767T>A (n.*1767T>A)
c.2015T>A (p.Leu672His)
10g.74101087T>CCA377260932VCLc.2012T>C (p.Leu671Pro)
c.1028T>C (p.Leu343Pro)
n.365T>C
n.4815T>C
c.*1767T>C (n.*1767T>C)
c.2015T>C (p.Leu672Pro)
10g.74101087T>GCA377260933VCLc.2012T>G (p.Leu671Arg)
c.1028T>G (p.Leu343Arg)
n.365T>G
n.4815T>G
c.*1767T>G (n.*1767T>G)
c.2015T>G (p.Leu672Arg)
10g.74101088C>ACA470162865VCLc.2013C>A (p.Leu671=)
c.1029C>A (p.Leu343=)
n.366C>A
n.4816C>A
c.*1768C>A (n.*1768C>A)
c.2016C>A (p.Leu672=)
10g.74101088C>GCA470162864VCLc.2013C>G (p.Leu671=)
c.1029C>G (p.Leu343=)
n.366C>G
n.4816C>G
c.*1768C>G (n.*1768C>G)
c.2016C>G (p.Leu672=)
10g.74101088C>TCA470162863VCLc.2013C>T (p.Leu671=)
c.1029C>T (p.Leu343=)
n.366C>T
n.4816C>T
c.*1768C>T (n.*1768C>T)
c.2016C>T (p.Leu672=)
10g.74101089A>CCA377260934VCLc.2014A>C (p.Thr672Pro)
c.1030A>C (p.Thr344Pro)
n.367A>C
n.4817A>C
c.*1769A>C (n.*1769A>C)
c.2017A>C (p.Thr673Pro)
10g.74101089A>GCA377260936VCLc.2014A>G (p.Thr672Ala)
c.1030A>G (p.Thr344Ala)
n.367A>G
n.4817A>G
c.*1769A>G (n.*1769A>G)
c.2017A>G (p.Thr673Ala)
10g.74101089A>TCA377260938VCLc.2014A>T (p.Thr672Ser)
c.1030A>T (p.Thr344Ser)
n.367A>T
n.4817A>T
c.*1769A>T (n.*1769A>T)
c.2017A>T (p.Thr673Ser)
10g.74101090C>ACA377260944VCLc.2015C>A (p.Thr672Lys)
c.1031C>A (p.Thr344Lys)
n.368C>A
n.4818C>A
c.*1770C>A (n.*1770C>A)
c.2018C>A (p.Thr673Lys)
10g.74101090C>GCA377260947VCLc.2015C>G (p.Thr672Arg)
c.1031C>G (p.Thr344Arg)
n.368C>G
n.4818C>G
c.*1770C>G (n.*1770C>G)
c.2018C>G (p.Thr673Arg)
10g.74101090C>TCA377260945VCLc.2015C>T (p.Thr672Ile)
c.1031C>T (p.Thr344Ile)
n.368C>T
n.4818C>T
c.*1770C>T (n.*1770C>T)
c.2018C>T (p.Thr673Ile)
10g.74101091A=CA1919893238VCLc.2016A= (p.Thr672=)
c.1032A= (p.Thr344=)
n.369A=
n.4819A=
c.*1771A= (n.*1771A=)
c.2019A= (p.Thr673=)
10g.74101091A>CCA470162867VCLc.2016A>C (p.Thr672=)
c.1032A>C (p.Thr344=)
n.369A>C
n.4819A>C
c.*1771A>C (n.*1771A>C)
c.2019A>C (p.Thr673=)
gnomAD v4 COSMIC
10g.74101091A>GCA209692418VCLc.2016A>G (p.Thr672=)
c.1032A>G (p.Thr344=)
n.369A>G
n.4819A>G
c.*1771A>G (n.*1771A>G)
c.2019A>G (p.Thr673=)
dbSNP gnomAD v4
10g.74101091A>TCA470162866VCLc.2016A>T (p.Thr672=)
c.1032A>T (p.Thr344=)
n.369A>T
n.4819A>T
c.*1771A>T (n.*1771A>T)
c.2019A>T (p.Thr673=)
10g.74101092C>ACA377260949VCLc.2017C>A (p.Pro673Thr)
c.1033C>A (p.Pro345Thr)
n.370C>A
n.4820C>A
c.*1772C>A (n.*1772C>A)
c.2020C>A (p.Pro674Thr)
10g.74101092C=CA1919893241VCLc.2017C= (p.Pro673=)
c.1033C= (p.Pro345=)
n.370C=
n.4820C=
c.*1772C= (n.*1772C=)
c.2020C= (p.Pro674=)
10g.74101092C>GCA377260951VCLc.2017C>G (p.Pro673Ala)
c.1033C>G (p.Pro345Ala)
n.370C>G
n.4820C>G
c.*1772C>G (n.*1772C>G)
c.2020C>G (p.Pro674Ala)
10g.74101092C>TCA377260952VCLc.2017C>T (p.Pro673Ser)
c.1033C>T (p.Pro345Ser)
n.370C>T
n.4820C>T
c.*1772C>T (n.*1772C>T)
c.2020C>T (p.Pro674Ser)
dbSNP gnomAD v3 gnomAD v4
10g.74101093C>ACA209692420VCLc.2018C>A (p.Pro673His)
c.1034C>A (p.Pro345His)
n.371C>A
n.4821C>A
c.*1773C>A (n.*1773C>A)
c.2021C>A (p.Pro674His)
dbSNP gnomAD v2 gnomAD v4
10g.74101093C=CA1919893243VCLc.2018C= (p.Pro673=)
c.1034C= (p.Pro345=)
n.371C=
n.4821C=
c.*1773C= (n.*1773C=)
c.2021C= (p.Pro674=)
10g.74101093C>GCA377260957VCLc.2018C>G (p.Pro673Arg)
c.1034C>G (p.Pro345Arg)
n.371C>G
n.4821C>G
c.*1773C>G (n.*1773C>G)
c.2021C>G (p.Pro674Arg)
10g.74101093C>TCA377260955VCLc.2018C>T (p.Pro673Leu)
c.1034C>T (p.Pro345Leu)
n.371C>T
n.4821C>T
c.*1773C>T (n.*1773C>T)
c.2021C>T (p.Pro674Leu)
10g.74101094C>ACA470162869VCLc.2019C>A (p.Pro673=)
c.1035C>A (p.Pro345=)
n.372C>A
n.4822C>A
c.*1774C>A (n.*1774C>A)
c.2022C>A (p.Pro674=)
10g.74101094C=CA1919893247VCLc.2019C= (p.Pro673=)
c.1035C= (p.Pro345=)
n.372C=
n.4822C=
c.*1774C= (n.*1774C=)
c.2022C= (p.Pro674=)
10g.74101094C>GCA470162871VCLc.2019C>G (p.Pro673=)
c.1035C>G (p.Pro345=)
n.372C>G
n.4822C>G
c.*1774C>G (n.*1774C>G)
c.2022C>G (p.Pro674=)
10g.74101094C>TCA470162870VCLc.2019C>T (p.Pro673=)
c.1035C>T (p.Pro345=)
n.372C>T
n.4822C>T
c.*1774C>T (n.*1774C>T)
c.2022C>T (p.Pro674=)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.74101095C>ACA377260958VCLc.2020C>A (p.Gln674Lys)
c.1036C>A (p.Gln346Lys)
n.373C>A
n.4823C>A
c.*1775C>A (n.*1775C>A)
c.2023C>A (p.Gln675Lys)
10g.74101095C>GCA377260964VCLc.2020C>G (p.Gln674Glu)
c.1036C>G (p.Gln346Glu)
n.373C>G
n.4823C>G
c.*1775C>G (n.*1775C>G)
c.2023C>G (p.Gln675Glu)
10g.74101095C>TCA377260959VCLc.2020C>T (p.Gln674Ter)
c.1036C>T (p.Gln346Ter)
n.373C>T
n.4823C>T
c.*1775C>T (n.*1775C>T)
c.2023C>T (p.Gln675Ter)
10g.74101096A>CCA377260966VCLc.2021A>C (p.Gln674Pro)
c.1037A>C (p.Gln346Pro)
n.374A>C
n.4824A>C
c.*1776A>C (n.*1776A>C)
c.2024A>C (p.Gln675Pro)
ClinVar
10g.74101096A>GCA377260968VCLc.2021A>G (p.Gln674Arg)
c.1037A>G (p.Gln346Arg)
n.374A>G
n.4824A>G
c.*1776A>G (n.*1776A>G)
c.2024A>G (p.Gln675Arg)
ClinVar
10g.74101096A>TCA377260967VCLc.2021A>T (p.Gln674Leu)
c.1037A>T (p.Gln346Leu)
n.374A>T
n.4824A>T
c.*1776A>T (n.*1776A>T)
c.2024A>T (p.Gln675Leu)
10g.74101097G>ACA5563137VCLc.2022G>A (p.Gln674=)
c.1038G>A (p.Gln346=)
n.375G>A
n.4825G>A
c.*1777G>A (n.*1777G>A)
c.2025G>A (p.Gln675=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.74101097G>CCA377260975VCLc.2022G>C (p.Gln674His)
c.1038G>C (p.Gln346His)
n.375G>C
n.4825G>C
c.*1777G>C (n.*1777G>C)
c.2025G>C (p.Gln675His)
10g.74101097G=CA1919893252VCLc.2022G= (p.Gln674=)
c.1038G= (p.Gln346=)
n.375G=
n.4825G=
c.*1777G= (n.*1777G=)
c.2025G= (p.Gln675=)
10g.74101097G>TCA377260977VCLc.2022G>T (p.Gln674His)
c.1038G>T (p.Gln346His)
n.375G>T
n.4825G>T
c.*1777G>T (n.*1777G>T)
c.2025G>T (p.Gln675His)
gnomAD v4
10g.74101098G>ACA377260978VCLc.2022+1G>A (n.2022+1G>A)
c.1038+1G>A (n.1038+1G>A)
n.375+1G>A
n.4825+1G>A
c.*1777+1G>A (n.*1777+1G>A)
c.2025+1G>A (n.2025+1G>A)
dbSNP gnomAD v2 gnomAD v4
10g.74101098G>CCA377260979VCLc.2022+1G>C (n.2022+1G>C)
c.1038+1G>C (n.1038+1G>C)
n.375+1G>C
n.4825+1G>C
c.*1777+1G>C (n.*1777+1G>C)
c.2025+1G>C (n.2025+1G>C)
10g.74101098G=CA1919893255VCLc.2022+1G= (n.2022+1G=)
c.1038+1G= (n.1038+1G=)
n.375+1G=
n.4825+1G=
c.*1777+1G= (n.*1777+1G=)
c.2025+1G= (n.2025+1G=)
10g.74101098G>TCA377260981VCLc.2022+1G>T (n.2022+1G>T)
c.1038+1G>T (n.1038+1G>T)
n.375+1G>T
n.4825+1G>T
c.*1777+1G>T (n.*1777+1G>T)
c.2025+1G>T (n.2025+1G>T)
10g.74101099T>ACA377260982VCLc.2022+2T>A (n.2022+2T>A)
c.1038+2T>A (n.1038+2T>A)
n.375+2T>A
n.4825+2T>A
c.*1777+2T>A (n.*1777+2T>A)
c.2025+2T>A (n.2025+2T>A)
10g.74101099T>CCA377260983VCLc.2022+2T>C (n.2022+2T>C)
c.1038+2T>C (n.1038+2T>C)
n.375+2T>C
n.4825+2T>C
c.*1777+2T>C (n.*1777+2T>C)
c.2025+2T>C (n.2025+2T>C)
10g.74101099T>GCA377260984VCLc.2022+2T>G (n.2022+2T>G)
c.1038+2T>G (n.1038+2T>G)
n.375+2T>G
n.4825+2T>G
c.*1777+2T>G (n.*1777+2T>G)
c.2025+2T>G (n.2025+2T>G)
ClinVar
10g.74101100delCA2540519402VCLc.2022+3del (n.2022+3del)
c.1038+3del (n.1038+3del)
n.375+3del
n.4825+3del
c.*1777+3del (n.*1777+3del)
c.2025+3del (n.2025+3del)
10g.74101101G>ACA2574585552VCLc.2022+4G>A (n.2022+4G>A)
c.1038+4G>A (n.1038+4G>A)
n.375+4G>A
n.4825+4G>A
c.*1777+4G>A (n.*1777+4G>A)
c.2025+4G>A (n.2025+4G>A)
10g.74101101G>CCA2609728606VCLc.2022+4G>C (n.2022+4G>C)
c.1038+4G>C (n.1038+4G>C)
n.375+4G>C
n.4825+4G>C
c.*1777+4G>C (n.*1777+4G>C)
c.2025+4G>C (n.2025+4G>C)
gnomAD v4
10g.74101101G>TCA2788543626VCLc.2022+4G>T (n.2022+4G>T)
c.1038+4G>T (n.1038+4G>T)
n.375+4G>T
n.4825+4G>T
c.*1777+4G>T (n.*1777+4G>T)
c.2025+4G>T (n.2025+4G>T)
10g.74101102G>ACA594387026VCLc.2022+5G>A (n.2022+5G>A)
c.1038+5G>A (n.1038+5G>A)
n.375+5G>A
n.4825+5G>A
c.*1777+5G>A (n.*1777+5G>A)
c.2025+5G>A (n.2025+5G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.74101102G=CA1919893260VCLc.2022+5G= (n.2022+5G=)
c.1038+5G= (n.1038+5G=)
n.375+5G=
n.4825+5G=
c.*1777+5G= (n.*1777+5G=)
c.2025+5G= (n.2025+5G=)
10g.74101102G>TCA16613161VCLc.2022+5G>T (n.2022+5G>T)
c.1038+5G>T (n.1038+5G>T)
n.375+5G>T
n.4825+5G>T
c.*1777+5G>T (n.*1777+5G>T)
c.2025+5G>T (n.2025+5G>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.74101103G>TCA2609728608VCLc.2022+6G>T (n.2022+6G>T)
c.1038+6G>T (n.1038+6G>T)
n.375+6G>T
n.4825+6G>T
c.*1777+6G>T (n.*1777+6G>T)
c.2025+6G>T (n.2025+6G>T)
gnomAD v4
10g.74101104T>GCA2609728609VCLc.2022+7T>G (n.2022+7T>G)
c.1038+7T>G (n.1038+7T>G)
n.375+7T>G
n.4825+7T>G
c.*1777+7T>G (n.*1777+7T>G)
c.2025+7T>G (n.2025+7T>G)
gnomAD v4
10g.74101107T>CCA2508653787VCLc.2022+10T>C (n.2022+10T>C)
c.1038+10T>C (n.1038+10T>C)
n.375+10T>C
n.4825+10T>C
c.*1777+10T>C (n.*1777+10T>C)
c.2025+10T>C (n.2025+10T>C)
gnomAD v4
10g.74101108G>ACA2557411559VCLc.2022+11G>A (n.2022+11G>A)
c.1038+11G>A (n.1038+11G>A)
n.375+11G>A
n.4825+11G>A
c.*1777+11G>A (n.*1777+11G>A)
c.2025+11G>A (n.2025+11G>A)

Number of alleles fetched