Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.45512277G>ACA280134RUNX2c.849G>A (p.Trp283Ter)
c.891G>A (p.Trp297Ter)
c.675G>A (p.Trp225Ter)
c.*412G>A (n.*412G>A)
c.1095G>A (p.Trp365Ter)
c.921G>A (p.Trp307Ter)
c.423G>A (p.Trp141Ter)
n.1689G>A
 ClinVar dbSNP
6g.45512277G>CCA363955891RUNX2c.849G>C (p.Trp283Cys)
c.891G>C (p.Trp297Cys)
c.675G>C (p.Trp225Cys)
c.*412G>C (n.*412G>C)
c.1095G>C (p.Trp365Cys)
c.921G>C (p.Trp307Cys)
c.423G>C (p.Trp141Cys)
n.1689G>C
6g.45512277G=CA1625477250RUNX2c.849G= (p.Trp283=)
c.891G= (p.Trp297=)
c.675G= (p.Trp225=)
c.*412G= (n.*412G=)
c.1095G= (p.Trp365=)
c.921G= (p.Trp307=)
c.423G= (p.Trp141=)
n.1689G=
6g.45512277G>TCA363955890RUNX2c.849G>T (p.Trp283Cys)
c.891G>T (p.Trp297Cys)
c.675G>T (p.Trp225Cys)
c.*412G>T (n.*412G>T)
c.1095G>T (p.Trp365Cys)
c.921G>T (p.Trp307Cys)
c.423G>T (p.Trp141Cys)
n.1689G>T
6g.45512278T>ACA363955892RUNX2c.850T>A (p.Ser284Thr)
c.892T>A (p.Ser298Thr)
c.676T>A (p.Ser226Thr)
c.*413T>A (n.*413T>A)
c.1096T>A (p.Ser366Thr)
c.922T>A (p.Ser308Thr)
c.424T>A (p.Ser142Thr)
n.1690T>A
6g.45512278T>CCA363955893RUNX2c.850T>C (p.Ser284Pro)
c.892T>C (p.Ser298Pro)
c.676T>C (p.Ser226Pro)
c.*413T>C (n.*413T>C)
c.1096T>C (p.Ser366Pro)
c.922T>C (p.Ser308Pro)
c.424T>C (p.Ser142Pro)
n.1690T>C
6g.45512278T>GCA363955894RUNX2c.850T>G (p.Ser284Ala)
c.892T>G (p.Ser298Ala)
c.676T>G (p.Ser226Ala)
c.*413T>G (n.*413T>G)
c.1096T>G (p.Ser366Ala)
c.922T>G (p.Ser308Ala)
c.424T>G (p.Ser142Ala)
n.1690T>G
6g.45512279C>ACA363955895RUNX2c.851C>A (p.Ser284Tyr)
c.893C>A (p.Ser298Tyr)
c.677C>A (p.Ser226Tyr)
c.*414C>A (n.*414C>A)
c.1097C>A (p.Ser366Tyr)
c.923C>A (p.Ser308Tyr)
c.425C>A (p.Ser142Tyr)
n.1691C>A
6g.45512279C>GCA363955896RUNX2c.851C>G (p.Ser284Cys)
c.893C>G (p.Ser298Cys)
c.677C>G (p.Ser226Cys)
c.*414C>G (n.*414C>G)
c.1097C>G (p.Ser366Cys)
c.923C>G (p.Ser308Cys)
c.425C>G (p.Ser142Cys)
n.1691C>G
6g.45512279C>TCA363955897RUNX2c.851C>T (p.Ser284Phe)
c.893C>T (p.Ser298Phe)
c.677C>T (p.Ser226Phe)
c.*414C>T (n.*414C>T)
c.1097C>T (p.Ser366Phe)
c.923C>T (p.Ser308Phe)
c.425C>T (p.Ser142Phe)
n.1691C>T
 gnomAD v4
6g.45512280C>ACA450153057RUNX2c.852C>A (p.Ser284=)
c.894C>A (p.Ser298=)
c.678C>A (p.Ser226=)
c.*415C>A (n.*415C>A)
c.1098C>A (p.Ser366=)
c.924C>A (p.Ser308=)
c.426C>A (p.Ser142=)
n.1692C>A
6g.45512280C>GCA450153060RUNX2c.852C>G (p.Ser284=)
c.894C>G (p.Ser298=)
c.678C>G (p.Ser226=)
c.*415C>G (n.*415C>G)
c.1098C>G (p.Ser366=)
c.924C>G (p.Ser308=)
c.426C>G (p.Ser142=)
n.1692C>G
6g.45512280C>TCA450153062RUNX2c.852C>T (p.Ser284=)
c.894C>T (p.Ser298=)
c.678C>T (p.Ser226=)
c.*415C>T (n.*415C>T)
c.1098C>T (p.Ser366=)
c.924C>T (p.Ser308=)
c.426C>T (p.Ser142=)
n.1692C>T
6g.45512281T>ACA363955900RUNX2c.853T>A (p.Tyr285Asn)
c.895T>A (p.Tyr299Asn)
c.679T>A (p.Tyr227Asn)
c.*416T>A (n.*416T>A)
c.1099T>A (p.Tyr367Asn)
c.925T>A (p.Tyr309Asn)
c.427T>A (p.Tyr143Asn)
n.1693T>A
6g.45512281T>CCA363955898RUNX2c.853T>C (p.Tyr285His)
c.895T>C (p.Tyr299His)
c.679T>C (p.Tyr227His)
c.*416T>C (n.*416T>C)
c.1099T>C (p.Tyr367His)
c.925T>C (p.Tyr309His)
c.427T>C (p.Tyr143His)
n.1693T>C
6g.45512281T>GCA363955899RUNX2c.853T>G (p.Tyr285Asp)
c.895T>G (p.Tyr299Asp)
c.679T>G (p.Tyr227Asp)
c.*416T>G (n.*416T>G)
c.1099T>G (p.Tyr367Asp)
c.925T>G (p.Tyr309Asp)
c.427T>G (p.Tyr143Asp)
n.1693T>G
6g.45512282A=CA1625477251RUNX2c.854A= (p.Tyr285=)
c.896A= (p.Tyr299=)
c.680A= (p.Tyr227=)
c.*417A= (n.*417A=)
c.1100A= (p.Tyr367=)
c.926A= (p.Tyr309=)
c.428A= (p.Tyr143=)
n.1694A=
6g.45512282A>CCA363955901RUNX2c.854A>C (p.Tyr285Ser)
c.896A>C (p.Tyr299Ser)
c.680A>C (p.Tyr227Ser)
c.*417A>C (n.*417A>C)
c.1100A>C (p.Tyr367Ser)
c.926A>C (p.Tyr309Ser)
c.428A>C (p.Tyr143Ser)
n.1694A>C
6g.45512282A>GCA363955902RUNX2c.854A>G (p.Tyr285Cys)
c.896A>G (p.Tyr299Cys)
c.680A>G (p.Tyr227Cys)
c.*417A>G (n.*417A>G)
c.1100A>G (p.Tyr367Cys)
c.926A>G (p.Tyr309Cys)
c.428A>G (p.Tyr143Cys)
n.1694A>G
 ClinVar dbSNP gnomAD v4
6g.45512282A>TCA363955903RUNX2c.854A>T (p.Tyr285Phe)
c.896A>T (p.Tyr299Phe)
c.680A>T (p.Tyr227Phe)
c.*417A>T (n.*417A>T)
c.1100A>T (p.Tyr367Phe)
c.926A>T (p.Tyr309Phe)
c.428A>T (p.Tyr143Phe)
n.1694A>T
6g.45512283T>ACA363955904RUNX2c.855T>A (p.Tyr285Ter)
c.897T>A (p.Tyr299Ter)
c.681T>A (p.Tyr227Ter)
c.*418T>A (n.*418T>A)
c.1101T>A (p.Tyr367Ter)
c.927T>A (p.Tyr309Ter)
c.429T>A (p.Tyr143Ter)
n.1695T>A
6g.45512283T>CCA450153073RUNX2c.855T>C (p.Tyr285=)
c.897T>C (p.Tyr299=)
c.681T>C (p.Tyr227=)
c.*418T>C (n.*418T>C)
c.1101T>C (p.Tyr367=)
c.927T>C (p.Tyr309=)
c.429T>C (p.Tyr143=)
n.1695T>C
6g.45512283T>GCA363955905RUNX2c.855T>G (p.Tyr285Ter)
c.897T>G (p.Tyr299Ter)
c.681T>G (p.Tyr227Ter)
c.*418T>G (n.*418T>G)
c.1101T>G (p.Tyr367Ter)
c.927T>G (p.Tyr309Ter)
c.429T>G (p.Tyr143Ter)
n.1695T>G
6g.45512284G>ACA363955906RUNX2c.856G>A (p.Asp286Asn)
c.898G>A (p.Asp300Asn)
c.682G>A (p.Asp228Asn)
c.*419G>A (n.*419G>A)
c.1102G>A (p.Asp368Asn)
c.928G>A (p.Asp310Asn)
c.430G>A (p.Asp144Asn)
n.1696G>A
6g.45512284G>CCA3836519RUNX2c.856G>C (p.Asp286His)
c.898G>C (p.Asp300His)
c.682G>C (p.Asp228His)
c.*419G>C (n.*419G>C)
c.1102G>C (p.Asp368His)
c.928G>C (p.Asp310His)
c.430G>C (p.Asp144His)
n.1696G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.45512284G=CA1625477252RUNX2c.856G= (p.Asp286=)
c.898G= (p.Asp300=)
c.682G= (p.Asp228=)
c.*419G= (n.*419G=)
c.1102G= (p.Asp368=)
c.928G= (p.Asp310=)
c.430G= (p.Asp144=)
n.1696G=
6g.45512284G>TCA363955907RUNX2c.856G>T (p.Asp286Tyr)
c.898G>T (p.Asp300Tyr)
c.682G>T (p.Asp228Tyr)
c.*419G>T (n.*419G>T)
c.1102G>T (p.Asp368Tyr)
c.928G>T (p.Asp310Tyr)
c.430G>T (p.Asp144Tyr)
n.1696G>T
6g.45512285A=CA1625477253RUNX2c.857A= (p.Asp286=)
c.899A= (p.Asp300=)
c.683A= (p.Asp228=)
c.*420A= (n.*420A=)
c.1103A= (p.Asp368=)
c.929A= (p.Asp310=)
c.431A= (p.Asp144=)
n.1697A=
6g.45512285A>CCA363955908RUNX2c.857A>C (p.Asp286Ala)
c.899A>C (p.Asp300Ala)
c.683A>C (p.Asp228Ala)
c.*420A>C (n.*420A>C)
c.1103A>C (p.Asp368Ala)
c.929A>C (p.Asp310Ala)
c.431A>C (p.Asp144Ala)
n.1697A>C
6g.45512285A>GCA363955909RUNX2c.857A>G (p.Asp286Gly)
c.899A>G (p.Asp300Gly)
c.683A>G (p.Asp228Gly)
c.*420A>G (n.*420A>G)
c.1103A>G (p.Asp368Gly)
c.929A>G (p.Asp310Gly)
c.431A>G (p.Asp144Gly)
n.1697A>G
6g.45512285A>TCA363955910RUNX2c.857A>T (p.Asp286Val)
c.899A>T (p.Asp300Val)
c.683A>T (p.Asp228Val)
c.*420A>T (n.*420A>T)
c.1103A>T (p.Asp368Val)
c.929A>T (p.Asp310Val)
c.431A>T (p.Asp144Val)
n.1697A>T
 dbSNP gnomAD v2 gnomAD v4
6g.45512286C>ACA363955911RUNX2c.858C>A (p.Asp286Glu)
c.900C>A (p.Asp300Glu)
c.684C>A (p.Asp228Glu)
c.*421C>A (n.*421C>A)
c.1104C>A (p.Asp368Glu)
c.930C>A (p.Asp310Glu)
c.432C>A (p.Asp144Glu)
n.1698C>A
6g.45512286C=CA1625477254RUNX2c.858C= (p.Asp286=)
c.900C= (p.Asp300=)
c.684C= (p.Asp228=)
c.*421C= (n.*421C=)
c.1104C= (p.Asp368=)
c.930C= (p.Asp310=)
c.432C= (p.Asp144=)
n.1698C=
6g.45512286C>GCA363955912RUNX2c.858C>G (p.Asp286Glu)
c.900C>G (p.Asp300Glu)
c.684C>G (p.Asp228Glu)
c.*421C>G (n.*421C>G)
c.1104C>G (p.Asp368Glu)
c.930C>G (p.Asp310Glu)
c.432C>G (p.Asp144Glu)
n.1698C>G
6g.45512286C>TCA450153087RUNX2c.858C>T (p.Asp286=)
c.900C>T (p.Asp300=)
c.684C>T (p.Asp228=)
c.*421C>T (n.*421C>T)
c.1104C>T (p.Asp368=)
c.930C>T (p.Asp310=)
c.432C>T (p.Asp144=)
n.1698C>T
 dbSNP
6g.45512287C>ACA363955913RUNX2c.859C>A (p.Gln287Lys)
c.901C>A (p.Gln301Lys)
c.685C>A (p.Gln229Lys)
c.*422C>A (n.*422C>A)
c.1105C>A (p.Gln369Lys)
c.931C>A (p.Gln311Lys)
c.433C>A (p.Gln145Lys)
n.1699C>A
6g.45512287C=CA1625477255RUNX2c.859C= (p.Gln287=)
c.901C= (p.Gln301=)
c.685C= (p.Gln229=)
c.*422C= (n.*422C=)
c.1105C= (p.Gln369=)
c.931C= (p.Gln311=)
c.433C= (p.Gln145=)
n.1699C=
6g.45512287C>GCA3836520RUNX2c.859C>G (p.Gln287Glu)
c.901C>G (p.Gln301Glu)
c.685C>G (p.Gln229Glu)
c.*422C>G (n.*422C>G)
c.1105C>G (p.Gln369Glu)
c.931C>G (p.Gln311Glu)
c.433C>G (p.Gln145Glu)
n.1699C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.45512287C>TCA363955914RUNX2c.859C>T (p.Gln287Ter)
c.901C>T (p.Gln301Ter)
c.685C>T (p.Gln229Ter)
c.*422C>T (n.*422C>T)
c.1105C>T (p.Gln369Ter)
c.931C>T (p.Gln311Ter)
c.433C>T (p.Gln145Ter)
n.1699C>T
 ClinVar dbSNP
6g.45512288A=CA1625477256RUNX2c.860A= (p.Gln287=)
c.902A= (p.Gln301=)
c.686A= (p.Gln229=)
c.*423A= (n.*423A=)
c.1106A= (p.Gln369=)
c.932A= (p.Gln311=)
c.434A= (p.Gln145=)
n.1700A=
6g.45512288A>CCA363955915RUNX2c.860A>C (p.Gln287Pro)
c.902A>C (p.Gln301Pro)
c.686A>C (p.Gln229Pro)
c.*423A>C (n.*423A>C)
c.1106A>C (p.Gln369Pro)
c.932A>C (p.Gln311Pro)
c.434A>C (p.Gln145Pro)
n.1700A>C
6g.45512288A>GCA3836521RUNX2c.860A>G (p.Gln287Arg)
c.902A>G (p.Gln301Arg)
c.686A>G (p.Gln229Arg)
c.*423A>G (n.*423A>G)
c.1106A>G (p.Gln369Arg)
c.932A>G (p.Gln311Arg)
c.434A>G (p.Gln145Arg)
n.1700A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.45512288A>TCA363955916RUNX2c.860A>T (p.Gln287Leu)
c.902A>T (p.Gln301Leu)
c.686A>T (p.Gln229Leu)
c.*423A>T (n.*423A>T)
c.1106A>T (p.Gln369Leu)
c.932A>T (p.Gln311Leu)
c.434A>T (p.Gln145Leu)
n.1700A>T
6g.45512289G>ACA450153099RUNX2c.861G>A (p.Gln287=)
c.903G>A (p.Gln301=)
c.687G>A (p.Gln229=)
c.*424G>A (n.*424G>A)
c.1107G>A (p.Gln369=)
c.933G>A (p.Gln311=)
c.435G>A (p.Gln145=)
n.1701G>A
6g.45512289G>CCA363955917RUNX2c.861G>C (p.Gln287His)
c.903G>C (p.Gln301His)
c.687G>C (p.Gln229His)
c.*424G>C (n.*424G>C)
c.1107G>C (p.Gln369His)
c.933G>C (p.Gln311His)
c.435G>C (p.Gln145His)
n.1701G>C
6g.45512289G>TCA363955918RUNX2c.861G>T (p.Gln287His)
c.903G>T (p.Gln301His)
c.687G>T (p.Gln229His)
c.*424G>T (n.*424G>T)
c.1107G>T (p.Gln369His)
c.933G>T (p.Gln311His)
c.435G>T (p.Gln145His)
n.1701G>T
6g.45512290T>ACA363955919RUNX2c.862T>A (p.Ser288Thr)
c.904T>A (p.Ser302Thr)
c.688T>A (p.Ser230Thr)
c.*425T>A (n.*425T>A)
c.1108T>A (p.Ser370Thr)
c.934T>A (p.Ser312Thr)
c.436T>A (p.Ser146Thr)
n.1702T>A
6g.45512290T>CCA363955920RUNX2c.862T>C (p.Ser288Pro)
c.904T>C (p.Ser302Pro)
c.688T>C (p.Ser230Pro)
c.*425T>C (n.*425T>C)
c.1108T>C (p.Ser370Pro)
c.934T>C (p.Ser312Pro)
c.436T>C (p.Ser146Pro)
n.1702T>C
6g.45512290T>GCA3836522RUNX2c.862T>G (p.Ser288Ala)
c.904T>G (p.Ser302Ala)
c.688T>G (p.Ser230Ala)
c.*425T>G (n.*425T>G)
c.1108T>G (p.Ser370Ala)
c.934T>G (p.Ser312Ala)
c.436T>G (p.Ser146Ala)
n.1702T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.45512290T=CA1625477257RUNX2c.862T= (p.Ser288=)
c.904T= (p.Ser302=)
c.688T= (p.Ser230=)
c.*425T= (n.*425T=)
c.1108T= (p.Ser370=)
c.934T= (p.Ser312=)
c.436T= (p.Ser146=)
n.1702T=

Number of alleles fetched