UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.45512278T>A | CA363955892 | RUNX2 | c.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 | |
| 6 | g.45512278T>C | CA363955893 | RUNX2 | c.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 | |
| 6 | g.45512278T>G | CA363955894 | RUNX2 | c.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 | |
| 6 | g.45512279C>A | CA363955895 | RUNX2 | c.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 | |
| 6 | g.45512279C>G | CA363955896 | RUNX2 | c.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 | |
| 6 | g.45512279C>T | CA363955897 | RUNX2 | c.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 |
| 6 | g.45512280C>A | CA450153057 | RUNX2 | c.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 | |
| 6 | g.45512280C>G | CA450153060 | RUNX2 | c.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 | |
| 6 | g.45512280C>T | CA450153062 | RUNX2 | c.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 | |
| 6 | g.45512281T>A | CA363955900 | RUNX2 | c.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 | |
| 6 | g.45512281T>C | CA363955898 | RUNX2 | c.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 | |
| 6 | g.45512281T>G | CA363955899 | RUNX2 | c.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 | |
| 6 | g.45512282A= | CA1625477251 | RUNX2 | c.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= | |
| 6 | g.45512282A>C | CA363955901 | RUNX2 | c.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 | |
| 6 | g.45512282A>G | CA363955902 | RUNX2 | c.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 |
| 6 | g.45512282A>T | CA363955903 | RUNX2 | c.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 | |
| 6 | g.45512283T>A | CA363955904 | RUNX2 | c.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 | |
| 6 | g.45512283T>C | CA450153073 | RUNX2 | c.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 | |
| 6 | g.45512283T>G | CA363955905 | RUNX2 | c.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 | |
| 6 | g.45512284G>A | CA363955906 | RUNX2 | c.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 | |
| 6 | g.45512284G>C | CA3836519 | RUNX2 | c.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 |
| 6 | g.45512284G= | CA1625477252 | RUNX2 | c.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= | |
| 6 | g.45512284G>T | CA363955907 | RUNX2 | c.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 | |
| 6 | g.45512285A= | CA1625477253 | RUNX2 | c.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= | |
| 6 | g.45512285A>C | CA363955908 | RUNX2 | c.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 | |
| 6 | g.45512285A>G | CA363955909 | RUNX2 | c.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 | |
| 6 | g.45512285A>T | CA363955910 | RUNX2 | c.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 |
| 6 | g.45512286C>A | CA363955911 | RUNX2 | c.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 | |
| 6 | g.45512286C= | CA1625477254 | RUNX2 | c.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= | |
| 6 | g.45512286C>G | CA363955912 | RUNX2 | c.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 | |
| 6 | g.45512286C>T | CA450153087 | RUNX2 | c.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 |
| 6 | g.45512287C>A | CA363955913 | RUNX2 | c.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 | |
| 6 | g.45512287C= | CA1625477255 | RUNX2 | c.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= | |
| 6 | g.45512287C>G | CA3836520 | RUNX2 | c.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 |
| 6 | g.45512287C>T | CA363955914 | RUNX2 | c.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 |
| 6 | g.45512288A= | CA1625477256 | RUNX2 | c.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= | |
| 6 | g.45512288A>C | CA363955915 | RUNX2 | c.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 | |
| 6 | g.45512288A>G | CA3836521 | RUNX2 | c.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 |
| 6 | g.45512288A>T | CA363955916 | RUNX2 | c.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 | |
| 6 | g.45512289G>A | CA450153099 | RUNX2 | c.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 | |
| 6 | g.45512289G>C | CA363955917 | RUNX2 | c.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 | |
| 6 | g.45512289G>T | CA363955918 | RUNX2 | c.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 | |
| 6 | g.45512290T>A | CA363955919 | RUNX2 | c.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 | |
| 6 | g.45512290T>C | CA363955920 | RUNX2 | c.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 | |
| 6 | g.45512290T>G | CA3836522 | RUNX2 | c.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 |
| 6 | g.45512290T= | CA1625477257 | RUNX2 | c.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= | |
| 6 | g.45512291C>A | CA363955921 | RUNX2 | c.863C>A (p.Ser288Tyr) c.905C>A (p.Ser302Tyr) c.689C>A (p.Ser230Tyr) c.*426C>A (n.*426C>A) c.1109C>A (p.Ser370Tyr) c.935C>A (p.Ser312Tyr) c.437C>A (p.Ser146Tyr) n.1703C>A | |
| 6 | g.45512291C= | CA1625477258 | RUNX2 | c.863C= (p.Ser288=) c.905C= (p.Ser302=) c.689C= (p.Ser230=) c.*426C= (n.*426C=) c.1109C= (p.Ser370=) c.935C= (p.Ser312=) c.437C= (p.Ser146=) n.1703C= | |
| 6 | g.45512291C>G | CA363955922 | RUNX2 | c.863C>G (p.Ser288Cys) c.905C>G (p.Ser302Cys) c.689C>G (p.Ser230Cys) c.*426C>G (n.*426C>G) c.1109C>G (p.Ser370Cys) c.935C>G (p.Ser312Cys) c.437C>G (p.Ser146Cys) n.1703C>G | |
| 6 | g.45512291C>T | CA363955923 | RUNX2 | c.863C>T (p.Ser288Phe) c.905C>T (p.Ser302Phe) c.689C>T (p.Ser230Phe) c.*426C>T (n.*426C>T) c.1109C>T (p.Ser370Phe) c.935C>T (p.Ser312Phe) c.437C>T (p.Ser146Phe) n.1703C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.45512292T>A | CA450153114 | RUNX2 | c.864T>A (p.Ser288=) c.906T>A (p.Ser302=) c.690T>A (p.Ser230=) c.*427T>A (n.*427T>A) c.1110T>A (p.Ser370=) c.936T>A (p.Ser312=) c.438T>A (p.Ser146=) n.1704T>A | |
| 6 | g.45512292T>C | CA450153116 | RUNX2 | c.864T>C (p.Ser288=) c.906T>C (p.Ser302=) c.690T>C (p.Ser230=) c.*427T>C (n.*427T>C) c.1110T>C (p.Ser370=) c.936T>C (p.Ser312=) c.438T>C (p.Ser146=) n.1704T>C | |
| 6 | g.45512292T>G | CA450153119 | RUNX2 | c.864T>G (p.Ser288=) c.906T>G (p.Ser302=) c.690T>G (p.Ser230=) c.*427T>G (n.*427T>G) c.1110T>G (p.Ser370=) c.936T>G (p.Ser312=) c.438T>G (p.Ser146=) n.1704T>G | dbSNP |
| 6 | g.45512292T= | CA1625477259 | RUNX2 | c.864T= (p.Ser288=) c.906T= (p.Ser302=) c.690T= (p.Ser230=) c.*427T= (n.*427T=) c.1110T= (p.Ser370=) c.936T= (p.Ser312=) c.438T= (p.Ser146=) n.1704T= | |
| 6 | g.45512293T>A | CA363955924 | RUNX2 | c.865T>A (p.Tyr289Asn) c.907T>A (p.Tyr303Asn) c.691T>A (p.Tyr231Asn) c.*428T>A (n.*428T>A) c.1111T>A (p.Tyr371Asn) c.937T>A (p.Tyr313Asn) c.439T>A (p.Tyr147Asn) n.1705T>A | |
| 6 | g.45512293T>C | CA363955925 | RUNX2 | c.865T>C (p.Tyr289His) c.907T>C (p.Tyr303His) c.691T>C (p.Tyr231His) c.*428T>C (n.*428T>C) c.1111T>C (p.Tyr371His) c.937T>C (p.Tyr313His) c.439T>C (p.Tyr147His) n.1705T>C | |
| 6 | g.45512293T>G | CA363955926 | RUNX2 | c.865T>G (p.Tyr289Asp) c.907T>G (p.Tyr303Asp) c.691T>G (p.Tyr231Asp) c.*428T>G (n.*428T>G) c.1111T>G (p.Tyr371Asp) c.937T>G (p.Tyr313Asp) c.439T>G (p.Tyr147Asp) n.1705T>G | |
| 6 | g.45512294A= | CA1625477260 | RUNX2 | c.866A= (p.Tyr289=) c.908A= (p.Tyr303=) c.692A= (p.Tyr231=) c.*429A= (n.*429A=) c.1112A= (p.Tyr371=) c.938A= (p.Tyr313=) c.440A= (p.Tyr147=) n.1706A= | |
| 6 | g.45512294A>C | CA363955927 | RUNX2 | c.866A>C (p.Tyr289Ser) c.908A>C (p.Tyr303Ser) c.692A>C (p.Tyr231Ser) c.*429A>C (n.*429A>C) c.1112A>C (p.Tyr371Ser) c.938A>C (p.Tyr313Ser) c.440A>C (p.Tyr147Ser) n.1706A>C | |
| 6 | g.45512294A>G | CA363955928 | RUNX2 | c.866A>G (p.Tyr289Cys) c.908A>G (p.Tyr303Cys) c.692A>G (p.Tyr231Cys) c.*429A>G (n.*429A>G) c.1112A>G (p.Tyr371Cys) c.938A>G (p.Tyr313Cys) c.440A>G (p.Tyr147Cys) n.1706A>G | |
| 6 | g.45512294A>T | CA3836523 | RUNX2 | c.866A>T (p.Tyr289Phe) c.908A>T (p.Tyr303Phe) c.692A>T (p.Tyr231Phe) c.*429A>T (n.*429A>T) c.1112A>T (p.Tyr371Phe) c.938A>T (p.Tyr313Phe) c.440A>T (p.Tyr147Phe) n.1706A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.45512295C>A | CA363955929 | RUNX2 | c.867C>A (p.Tyr289Ter) c.909C>A (p.Tyr303Ter) c.693C>A (p.Tyr231Ter) c.*430C>A (n.*430C>A) c.1113C>A (p.Tyr371Ter) c.939C>A (p.Tyr313Ter) c.441C>A (p.Tyr147Ter) n.1707C>A | |
| 6 | g.45512295C>G | CA363955930 | RUNX2 | c.867C>G (p.Tyr289Ter) c.909C>G (p.Tyr303Ter) c.693C>G (p.Tyr231Ter) c.*430C>G (n.*430C>G) c.1113C>G (p.Tyr371Ter) c.939C>G (p.Tyr313Ter) c.441C>G (p.Tyr147Ter) n.1707C>G | ClinVar |
| 6 | g.45512295C>T | CA450153134 | RUNX2 | c.867C>T (p.Tyr289=) c.909C>T (p.Tyr303=) c.693C>T (p.Tyr231=) c.*430C>T (n.*430C>T) c.1113C>T (p.Tyr371=) c.939C>T (p.Tyr313=) c.441C>T (p.Tyr147=) n.1707C>T | |
| 6 | g.45512298del | CA2580074689 | RUNX2 | c.870del (p.Ser291ProfsTer3) c.912del (p.Ser305ProfsTer3) c.696del (p.Ser233ProfsTer3) c.*433del (n.*433del) c.1116del (p.Ser373ProfsTer3) c.942del (p.Ser315ProfsTer3) c.444del (p.Ser149ProfsTer3) n.1710del | ClinVar |
| 6 | g.45512296C>A | CA363955932 | RUNX2 | c.868C>A (p.Pro290Thr) c.910C>A (p.Pro304Thr) c.694C>A (p.Pro232Thr) c.*431C>A (n.*431C>A) c.1114C>A (p.Pro372Thr) c.940C>A (p.Pro314Thr) c.442C>A (p.Pro148Thr) n.1708C>A | |
| 6 | g.45512296C= | CA1625477261 | RUNX2 | c.868C= (p.Pro290=) c.910C= (p.Pro304=) c.694C= (p.Pro232=) c.*431C= (n.*431C=) c.1114C= (p.Pro372=) c.940C= (p.Pro314=) c.442C= (p.Pro148=) n.1708C= | |
| 6 | g.45512296C>G | CA363955931 | RUNX2 | c.868C>G (p.Pro290Ala) c.910C>G (p.Pro304Ala) c.694C>G (p.Pro232Ala) c.*431C>G (n.*431C>G) c.1114C>G (p.Pro372Ala) c.940C>G (p.Pro314Ala) c.442C>G (p.Pro148Ala) n.1708C>G | |
| 6 | g.45512296C>T | CA3836524 | RUNX2 | c.868C>T (p.Pro290Ser) c.910C>T (p.Pro304Ser) c.694C>T (p.Pro232Ser) c.*431C>T (n.*431C>T) c.1114C>T (p.Pro372Ser) c.940C>T (p.Pro314Ser) c.442C>T (p.Pro148Ser) n.1708C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512297C>A | CA363955933 | RUNX2 | c.869C>A (p.Pro290His) c.911C>A (p.Pro304His) c.695C>A (p.Pro232His) c.*432C>A (n.*432C>A) c.1115C>A (p.Pro372His) c.941C>A (p.Pro314His) c.443C>A (p.Pro148His) n.1709C>A | |
| 6 | g.45512297C= | CA1625477262 | RUNX2 | c.869C= (p.Pro290=) c.911C= (p.Pro304=) c.695C= (p.Pro232=) c.*432C= (n.*432C=) c.1115C= (p.Pro372=) c.941C= (p.Pro314=) c.443C= (p.Pro148=) n.1709C= | |
| 6 | g.45512297C>G | CA3836525 | RUNX2 | c.869C>G (p.Pro290Arg) c.911C>G (p.Pro304Arg) c.695C>G (p.Pro232Arg) c.*432C>G (n.*432C>G) c.1115C>G (p.Pro372Arg) c.941C>G (p.Pro314Arg) c.443C>G (p.Pro148Arg) n.1709C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512297C>T | CA363955934 | RUNX2 | c.869C>T (p.Pro290Leu) c.911C>T (p.Pro304Leu) c.695C>T (p.Pro232Leu) c.*432C>T (n.*432C>T) c.1115C>T (p.Pro372Leu) c.941C>T (p.Pro314Leu) c.443C>T (p.Pro148Leu) n.1709C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.45512298C>A | CA450153140 | RUNX2 | c.870C>A (p.Pro290=) c.912C>A (p.Pro304=) c.696C>A (p.Pro232=) c.*433C>A (n.*433C>A) c.1116C>A (p.Pro372=) c.942C>A (p.Pro314=) c.444C>A (p.Pro148=) n.1710C>A | |
| 6 | g.45512298C= | CA1625477263 | RUNX2 | c.870C= (p.Pro290=) c.912C= (p.Pro304=) c.696C= (p.Pro232=) c.*433C= (n.*433C=) c.1116C= (p.Pro372=) c.942C= (p.Pro314=) c.444C= (p.Pro148=) n.1710C= | |
| 6 | g.45512298C>G | CA450153141 | RUNX2 | c.870C>G (p.Pro290=) c.912C>G (p.Pro304=) c.696C>G (p.Pro232=) c.*433C>G (n.*433C>G) c.1116C>G (p.Pro372=) c.942C>G (p.Pro314=) c.444C>G (p.Pro148=) n.1710C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.45512298C>T | CA450153142 | RUNX2 | c.870C>T (p.Pro290=) c.912C>T (p.Pro304=) c.696C>T (p.Pro232=) c.*433C>T (n.*433C>T) c.1116C>T (p.Pro372=) c.942C>T (p.Pro314=) c.444C>T (p.Pro148=) n.1710C>T | dbSNP gnomAD v4 |
| 6 | g.45512299del | CA2695206402 | RUNX2 | c.871del (p.Ser291ProfsTer3) c.913del (p.Ser305ProfsTer3) c.697del (p.Ser233ProfsTer3) c.*434del (n.*434del) c.1117del (p.Ser373ProfsTer3) c.943del (p.Ser315ProfsTer3) c.445del (p.Ser149ProfsTer3) n.1711del | |
| 6 | g.45512299T>A | CA363955935 | RUNX2 | c.871T>A (p.Ser291Thr) c.913T>A (p.Ser305Thr) c.697T>A (p.Ser233Thr) c.*434T>A (n.*434T>A) c.1117T>A (p.Ser373Thr) c.943T>A (p.Ser315Thr) c.445T>A (p.Ser149Thr) n.1711T>A | |
| 6 | g.45512299T>C | CA363955936 | RUNX2 | c.871T>C (p.Ser291Pro) c.913T>C (p.Ser305Pro) c.697T>C (p.Ser233Pro) c.*434T>C (n.*434T>C) c.1117T>C (p.Ser373Pro) c.943T>C (p.Ser315Pro) c.445T>C (p.Ser149Pro) n.1711T>C | |
| 6 | g.45512299T>G | CA363955937 | RUNX2 | c.871T>G (p.Ser291Ala) c.913T>G (p.Ser305Ala) c.697T>G (p.Ser233Ala) c.*434T>G (n.*434T>G) c.1117T>G (p.Ser373Ala) c.943T>G (p.Ser315Ala) c.445T>G (p.Ser149Ala) n.1711T>G | |
| 6 | g.45512300C>A | CA363955938 | RUNX2 | c.872C>A (p.Ser291Tyr) c.914C>A (p.Ser305Tyr) c.698C>A (p.Ser233Tyr) c.*435C>A (n.*435C>A) c.1118C>A (p.Ser373Tyr) c.944C>A (p.Ser315Tyr) c.446C>A (p.Ser149Tyr) n.1712C>A | |
| 6 | g.45512300C= | CA1625477264 | RUNX2 | c.872C= (p.Ser291=) c.914C= (p.Ser305=) c.698C= (p.Ser233=) c.*435C= (n.*435C=) c.1118C= (p.Ser373=) c.944C= (p.Ser315=) c.446C= (p.Ser149=) n.1712C= | |
| 6 | g.45512300C>G | CA3836526 | RUNX2 | c.872C>G (p.Ser291Cys) c.914C>G (p.Ser305Cys) c.698C>G (p.Ser233Cys) c.*435C>G (n.*435C>G) c.1118C>G (p.Ser373Cys) c.944C>G (p.Ser315Cys) c.446C>G (p.Ser149Cys) n.1712C>G | dbSNP ExAC gnomAD v2 |
| 6 | g.45512300C>T | CA363955939 | RUNX2 | c.872C>T (p.Ser291Phe) c.914C>T (p.Ser305Phe) c.698C>T (p.Ser233Phe) c.*435C>T (n.*435C>T) c.1118C>T (p.Ser373Phe) c.944C>T (p.Ser315Phe) c.446C>T (p.Ser149Phe) n.1712C>T | COSMIC COSMIC |
| 6 | g.45512301del | CA2695206403 | RUNX2 | c.873del (p.Tyr292ThrfsTer2) c.915del (p.Tyr306ThrfsTer2) c.699del (p.Tyr234ThrfsTer2) c.*436del (n.*436del) c.1119del (p.Tyr374ThrfsTer2) c.945del (p.Tyr316ThrfsTer2) c.447del (p.Tyr150ThrfsTer2) n.1713del | |
| 6 | g.45512301C>A | CA450153143 | RUNX2 | c.873C>A (p.Ser291=) c.915C>A (p.Ser305=) c.699C>A (p.Ser233=) c.*436C>A (n.*436C>A) c.1119C>A (p.Ser373=) c.945C>A (p.Ser315=) c.447C>A (p.Ser149=) n.1713C>A | |
| 6 | g.45512301C>G | CA450153144 | RUNX2 | c.873C>G (p.Ser291=) c.915C>G (p.Ser305=) c.699C>G (p.Ser233=) c.*436C>G (n.*436C>G) c.1119C>G (p.Ser373=) c.945C>G (p.Ser315=) c.447C>G (p.Ser149=) n.1713C>G | |
| 6 | g.45512301C>T | CA450153145 | RUNX2 | c.873C>T (p.Ser291=) c.915C>T (p.Ser305=) c.699C>T (p.Ser233=) c.*436C>T (n.*436C>T) c.1119C>T (p.Ser373=) c.945C>T (p.Ser315=) c.447C>T (p.Ser149=) n.1713C>T | |
| 6 | g.45512302T>A | CA363955940 | RUNX2 | c.874T>A (p.Tyr292Asn) c.916T>A (p.Tyr306Asn) c.700T>A (p.Tyr234Asn) c.*437T>A (n.*437T>A) c.1120T>A (p.Tyr374Asn) c.946T>A (p.Tyr316Asn) c.448T>A (p.Tyr150Asn) n.1714T>A | |
| 6 | g.45512302T>C | CA363955941 | RUNX2 | c.874T>C (p.Tyr292His) c.916T>C (p.Tyr306His) c.700T>C (p.Tyr234His) c.*437T>C (n.*437T>C) c.1120T>C (p.Tyr374His) c.946T>C (p.Tyr316His) c.448T>C (p.Tyr150His) n.1714T>C | |
| 6 | g.45512302T>G | CA363955942 | RUNX2 | c.874T>G (p.Tyr292Asp) c.916T>G (p.Tyr306Asp) c.700T>G (p.Tyr234Asp) c.*437T>G (n.*437T>G) c.1120T>G (p.Tyr374Asp) c.946T>G (p.Tyr316Asp) c.448T>G (p.Tyr150Asp) n.1714T>G | |
| 6 | g.45512303del | CA2697553429 | RUNX2 | c.875del (p.Tyr292SerfsTer2) c.917del (p.Tyr306SerfsTer2) c.701del (p.Tyr234SerfsTer2) c.*438del (n.*438del) c.1121del (p.Tyr374SerfsTer2) c.947del (p.Tyr316SerfsTer2) c.449del (p.Tyr150SerfsTer2) n.1715del | ClinVar |
| 6 | g.45512303A= | CA1625477265 | RUNX2 | c.875A= (p.Tyr292=) c.917A= (p.Tyr306=) c.701A= (p.Tyr234=) c.*438A= (n.*438A=) c.1121A= (p.Tyr374=) c.947A= (p.Tyr316=) c.449A= (p.Tyr150=) n.1715A= | |
| 6 | g.45512303A>C | CA363955943 | RUNX2 | c.875A>C (p.Tyr292Ser) c.917A>C (p.Tyr306Ser) c.701A>C (p.Tyr234Ser) c.*438A>C (n.*438A>C) c.1121A>C (p.Tyr374Ser) c.947A>C (p.Tyr316Ser) c.449A>C (p.Tyr150Ser) n.1715A>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.45512303A>G | CA363955945 | RUNX2 | c.875A>G (p.Tyr292Cys) c.917A>G (p.Tyr306Cys) c.701A>G (p.Tyr234Cys) c.*438A>G (n.*438A>G) c.1121A>G (p.Tyr374Cys) c.947A>G (p.Tyr316Cys) c.449A>G (p.Tyr150Cys) n.1715A>G | dbSNP gnomAD v4 |
| 6 | g.45512303A>T | CA363955944 | RUNX2 | c.875A>T (p.Tyr292Phe) c.917A>T (p.Tyr306Phe) c.701A>T (p.Tyr234Phe) c.*438A>T (n.*438A>T) c.1121A>T (p.Tyr374Phe) c.947A>T (p.Tyr316Phe) c.449A>T (p.Tyr150Phe) n.1715A>T | |
| 6 | g.45512304C>A | CA363955946 | RUNX2 | c.876C>A (p.Tyr292Ter) c.918C>A (p.Tyr306Ter) c.702C>A (p.Tyr234Ter) c.*439C>A (n.*439C>A) c.1122C>A (p.Tyr374Ter) c.948C>A (p.Tyr316Ter) c.450C>A (p.Tyr150Ter) n.1716C>A | dbSNP COSMIC COSMIC |
| 6 | g.45512304C= | CA1625477266 | RUNX2 | c.876C= (p.Tyr292=) c.918C= (p.Tyr306=) c.702C= (p.Tyr234=) c.*439C= (n.*439C=) c.1122C= (p.Tyr374=) c.948C= (p.Tyr316=) c.450C= (p.Tyr150=) n.1716C= | |
| 6 | g.45512304C>G | CA363955947 | RUNX2 | c.876C>G (p.Tyr292Ter) c.918C>G (p.Tyr306Ter) c.702C>G (p.Tyr234Ter) c.*439C>G (n.*439C>G) c.1122C>G (p.Tyr374Ter) c.948C>G (p.Tyr316Ter) c.450C>G (p.Tyr150Ter) n.1716C>G | |
| 6 | g.45512304C>T | CA450153155 | RUNX2 | c.876C>T (p.Tyr292=) c.918C>T (p.Tyr306=) c.702C>T (p.Tyr234=) c.*439C>T (n.*439C>T) c.1122C>T (p.Tyr374=) c.948C>T (p.Tyr316=) c.450C>T (p.Tyr150=) n.1716C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.45512305C>A | CA363955948 | RUNX2 | c.877C>A (p.Leu293Met) c.919C>A (p.Leu307Met) c.703C>A (p.Leu235Met) c.*440C>A (n.*440C>A) c.1123C>A (p.Leu375Met) c.949C>A (p.Leu317Met) c.451C>A (p.Leu151Met) n.1717C>A | |
| 6 | g.45512305C= | CA1625477267 | RUNX2 | c.877C= (p.Leu293=) c.919C= (p.Leu307=) c.703C= (p.Leu235=) c.*440C= (n.*440C=) c.1123C= (p.Leu375=) c.949C= (p.Leu317=) c.451C= (p.Leu151=) n.1717C= | |
| 6 | g.45512305C>G | CA363955949 | RUNX2 | c.877C>G (p.Leu293Val) c.919C>G (p.Leu307Val) c.703C>G (p.Leu235Val) c.*440C>G (n.*440C>G) c.1123C>G (p.Leu375Val) c.949C>G (p.Leu317Val) c.451C>G (p.Leu151Val) n.1717C>G | gnomAD v4 |
| 6 | g.45512305C>T | CA3836527 | RUNX2 | c.877C>T (p.Leu293=) c.919C>T (p.Leu307=) c.703C>T (p.Leu235=) c.*440C>T (n.*440C>T) c.1123C>T (p.Leu375=) c.949C>T (p.Leu317=) c.451C>T (p.Leu151=) n.1717C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512305_45512306insA | CA2695206404 | RUNX2 | c.877_878insA (p.Leu293HisfsTer?) c.919_920insA (p.Leu307HisfsTer?) c.703_704insA (p.Leu235HisfsTer?) c.*440_*441insA (n.*440_*441insA) c.1123_1124insA (p.Leu375HisfsTer?) c.949_950insA (p.Leu317HisfsTer?) c.451_452insA (p.Leu151HisfsTer?) n.1717_1718insA | |
| 6 | g.45512306T>A | CA363955950 | RUNX2 | c.878T>A (p.Leu293Gln) c.920T>A (p.Leu307Gln) c.704T>A (p.Leu235Gln) c.*441T>A (n.*441T>A) c.1124T>A (p.Leu375Gln) c.950T>A (p.Leu317Gln) c.452T>A (p.Leu151Gln) n.1718T>A | |
| 6 | g.45512306T>C | CA363955951 | RUNX2 | c.878T>C (p.Leu293Pro) c.920T>C (p.Leu307Pro) c.704T>C (p.Leu235Pro) c.*441T>C (n.*441T>C) c.1124T>C (p.Leu375Pro) c.950T>C (p.Leu317Pro) c.452T>C (p.Leu151Pro) n.1718T>C | |
| 6 | g.45512306T>G | CA363955953 | RUNX2 | c.878T>G (p.Leu293Arg) c.920T>G (p.Leu307Arg) c.704T>G (p.Leu235Arg) c.*441T>G (n.*441T>G) c.1124T>G (p.Leu375Arg) c.950T>G (p.Leu317Arg) c.452T>G (p.Leu151Arg) n.1718T>G | |
| 6 | g.45512307G>A | CA450153169 | RUNX2 | c.879G>A (p.Leu293=) c.921G>A (p.Leu307=) c.705G>A (p.Leu235=) c.*442G>A (n.*442G>A) c.1125G>A (p.Leu375=) c.951G>A (p.Leu317=) c.453G>A (p.Leu151=) n.1719G>A | gnomAD v4 |
| 6 | g.45512307G>C | CA450153164 | RUNX2 | c.879G>C (p.Leu293=) c.921G>C (p.Leu307=) c.705G>C (p.Leu235=) c.*442G>C (n.*442G>C) c.1125G>C (p.Leu375=) c.951G>C (p.Leu317=) c.453G>C (p.Leu151=) n.1719G>C | |
| 6 | g.45512307G>T | CA450153167 | RUNX2 | c.879G>T (p.Leu293=) c.921G>T (p.Leu307=) c.705G>T (p.Leu235=) c.*442G>T (n.*442G>T) c.1125G>T (p.Leu375=) c.951G>T (p.Leu317=) c.453G>T (p.Leu151=) n.1719G>T | |
| 6 | g.45512308A= | CA1625477268 | RUNX2 | c.880A= (p.Ser294=) c.922A= (p.Ser308=) c.706A= (p.Ser236=) c.*443A= (n.*443A=) c.1126A= (p.Ser376=) c.952A= (p.Ser318=) c.454A= (p.Ser152=) n.1720A= | |
| 6 | g.45512308A>C | CA363955954 | RUNX2 | c.880A>C (p.Ser294Arg) c.922A>C (p.Ser308Arg) c.706A>C (p.Ser236Arg) c.*443A>C (n.*443A>C) c.1126A>C (p.Ser376Arg) c.952A>C (p.Ser318Arg) c.454A>C (p.Ser152Arg) n.1720A>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.45512308A>G | CA363955955 | RUNX2 | c.880A>G (p.Ser294Gly) c.922A>G (p.Ser308Gly) c.706A>G (p.Ser236Gly) c.*443A>G (n.*443A>G) c.1126A>G (p.Ser376Gly) c.952A>G (p.Ser318Gly) c.454A>G (p.Ser152Gly) n.1720A>G | |
| 6 | g.45512308A>T | CA363955956 | RUNX2 | c.880A>T (p.Ser294Cys) c.922A>T (p.Ser308Cys) c.706A>T (p.Ser236Cys) c.*443A>T (n.*443A>T) c.1126A>T (p.Ser376Cys) c.952A>T (p.Ser318Cys) c.454A>T (p.Ser152Cys) n.1720A>T | |
| 6 | g.45512309G>A | CA363955957 | RUNX2 | c.881G>A (p.Ser294Asn) c.923G>A (p.Ser308Asn) c.707G>A (p.Ser236Asn) c.*444G>A (n.*444G>A) c.1127G>A (p.Ser376Asn) c.953G>A (p.Ser318Asn) c.455G>A (p.Ser152Asn) n.1721G>A | gnomAD v4 |
| 6 | g.45512309G>C | CA363955958 | RUNX2 | c.881G>C (p.Ser294Thr) c.923G>C (p.Ser308Thr) c.707G>C (p.Ser236Thr) c.*444G>C (n.*444G>C) c.1127G>C (p.Ser376Thr) c.953G>C (p.Ser318Thr) c.455G>C (p.Ser152Thr) n.1721G>C | gnomAD v4 |
| 6 | g.45512309G>T | CA363955959 | RUNX2 | c.881G>T (p.Ser294Ile) c.923G>T (p.Ser308Ile) c.707G>T (p.Ser236Ile) c.*444G>T (n.*444G>T) c.1127G>T (p.Ser376Ile) c.953G>T (p.Ser318Ile) c.455G>T (p.Ser152Ile) n.1721G>T | |
| 6 | g.45512310C>A | CA363955960 | RUNX2 | c.882C>A (p.Ser294Arg) c.924C>A (p.Ser308Arg) c.708C>A (p.Ser236Arg) c.*445C>A (n.*445C>A) c.1128C>A (p.Ser376Arg) c.954C>A (p.Ser318Arg) c.456C>A (p.Ser152Arg) n.1722C>A | |
| 6 | g.45512310C= | CA1625477269 | RUNX2 | c.882C= (p.Ser294=) c.924C= (p.Ser308=) c.708C= (p.Ser236=) c.*445C= (n.*445C=) c.1128C= (p.Ser376=) c.954C= (p.Ser318=) c.456C= (p.Ser152=) n.1722C= | |
| 6 | g.45512310C>G | CA363955961 | RUNX2 | c.882C>G (p.Ser294Arg) c.924C>G (p.Ser308Arg) c.708C>G (p.Ser236Arg) c.*445C>G (n.*445C>G) c.1128C>G (p.Ser376Arg) c.954C>G (p.Ser318Arg) c.456C>G (p.Ser152Arg) n.1722C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512310C>T | CA450153182 | RUNX2 | c.882C>T (p.Ser294=) c.924C>T (p.Ser308=) c.708C>T (p.Ser236=) c.*445C>T (n.*445C>T) c.1128C>T (p.Ser376=) c.954C>T (p.Ser318=) c.456C>T (p.Ser152=) n.1722C>T | |
| 6 | g.45512311C>A | CA363955962 | RUNX2 | c.883C>A (p.Gln295Lys) c.925C>A (p.Gln309Lys) c.709C>A (p.Gln237Lys) c.*446C>A (n.*446C>A) c.1129C>A (p.Gln377Lys) c.955C>A (p.Gln319Lys) c.457C>A (p.Gln153Lys) n.1723C>A | |
| 6 | g.45512311C>G | CA363955963 | RUNX2 | c.883C>G (p.Gln295Glu) c.925C>G (p.Gln309Glu) c.709C>G (p.Gln237Glu) c.*446C>G (n.*446C>G) c.1129C>G (p.Gln377Glu) c.955C>G (p.Gln319Glu) c.457C>G (p.Gln153Glu) n.1723C>G | COSMIC COSMIC |
| 6 | g.45512311C>T | CA363955964 | RUNX2 | c.883C>T (p.Gln295Ter) c.925C>T (p.Gln309Ter) c.709C>T (p.Gln237Ter) c.*446C>T (n.*446C>T) c.1129C>T (p.Gln377Ter) c.955C>T (p.Gln319Ter) c.457C>T (p.Gln153Ter) n.1723C>T | ClinVar |
| 6 | g.45512312A= | CA1625477270 | RUNX2 | c.884A= (p.Gln295=) c.926A= (p.Gln309=) c.710A= (p.Gln237=) c.*447A= (n.*447A=) c.1130A= (p.Gln377=) c.956A= (p.Gln319=) c.458A= (p.Gln153=) n.1724A= | |
| 6 | g.45512312A>C | CA363955965 | RUNX2 | c.884A>C (p.Gln295Pro) c.926A>C (p.Gln309Pro) c.710A>C (p.Gln237Pro) c.*447A>C (n.*447A>C) c.1130A>C (p.Gln377Pro) c.956A>C (p.Gln319Pro) c.458A>C (p.Gln153Pro) n.1724A>C | |
| 6 | g.45512312A>G | CA363955966 | RUNX2 | c.884A>G (p.Gln295Arg) c.926A>G (p.Gln309Arg) c.710A>G (p.Gln237Arg) c.*447A>G (n.*447A>G) c.1130A>G (p.Gln377Arg) c.956A>G (p.Gln319Arg) c.458A>G (p.Gln153Arg) n.1724A>G | dbSNP |
| 6 | g.45512312A>T | CA363955967 | RUNX2 | c.884A>T (p.Gln295Leu) c.926A>T (p.Gln309Leu) c.710A>T (p.Gln237Leu) c.*447A>T (n.*447A>T) c.1130A>T (p.Gln377Leu) c.956A>T (p.Gln319Leu) c.458A>T (p.Gln153Leu) n.1724A>T | |
| 6 | g.45512313G>A | CA450153194 | RUNX2 | c.885G>A (p.Gln295=) c.927G>A (p.Gln309=) c.711G>A (p.Gln237=) c.*448G>A (n.*448G>A) c.1131G>A (p.Gln377=) c.957G>A (p.Gln319=) c.459G>A (p.Gln153=) n.1725G>A | |
| 6 | g.45512313G>C | CA363955968 | RUNX2 | c.885G>C (p.Gln295His) c.927G>C (p.Gln309His) c.711G>C (p.Gln237His) c.*448G>C (n.*448G>C) c.1131G>C (p.Gln377His) c.957G>C (p.Gln319His) c.459G>C (p.Gln153His) n.1725G>C | |
| 6 | g.45512313G>T | CA363955969 | RUNX2 | c.885G>T (p.Gln295His) c.927G>T (p.Gln309His) c.711G>T (p.Gln237His) c.*448G>T (n.*448G>T) c.1131G>T (p.Gln377His) c.957G>T (p.Gln319His) c.459G>T (p.Gln153His) n.1725G>T | |
| 6 | g.45512314A= | CA1625477271 | RUNX2 | c.886A= (p.Met296=) c.928A= (p.Met310=) c.712A= (p.Met238=) c.*449A= (n.*449A=) c.1132A= (p.Met378=) c.958A= (p.Met320=) c.460A= (p.Met154=) n.1726A= | |
| 6 | g.45512314A>C | CA363955970 | RUNX2 | c.886A>C (p.Met296Leu) c.928A>C (p.Met310Leu) c.712A>C (p.Met238Leu) c.*449A>C (n.*449A>C) c.1132A>C (p.Met378Leu) c.958A>C (p.Met320Leu) c.460A>C (p.Met154Leu) n.1726A>C | |
| 6 | g.45512314A>G | CA363955971 | RUNX2 | c.886A>G (p.Met296Val) c.928A>G (p.Met310Val) c.712A>G (p.Met238Val) c.*449A>G (n.*449A>G) c.1132A>G (p.Met378Val) c.958A>G (p.Met320Val) c.460A>G (p.Met154Val) n.1726A>G | |
| 6 | g.45512314A>T | CA363955972 | RUNX2 | c.886A>T (p.Met296Leu) c.928A>T (p.Met310Leu) c.712A>T (p.Met238Leu) c.*449A>T (n.*449A>T) c.1132A>T (p.Met378Leu) c.958A>T (p.Met320Leu) c.460A>T (p.Met154Leu) n.1726A>T | dbSNP gnomAD v4 |
| 6 | g.45512315T>A | CA363955974 | RUNX2 | c.887T>A (p.Met296Lys) c.929T>A (p.Met310Lys) c.713T>A (p.Met238Lys) c.*450T>A (n.*450T>A) c.1133T>A (p.Met378Lys) c.959T>A (p.Met320Lys) c.461T>A (p.Met154Lys) n.1727T>A | |
| 6 | g.45512315T>C | CA363955975 | RUNX2 | c.887T>C (p.Met296Thr) c.929T>C (p.Met310Thr) c.713T>C (p.Met238Thr) c.*450T>C (n.*450T>C) c.1133T>C (p.Met378Thr) c.959T>C (p.Met320Thr) c.461T>C (p.Met154Thr) n.1727T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.45512315T>G | CA363955973 | RUNX2 | c.887T>G (p.Met296Arg) c.929T>G (p.Met310Arg) c.713T>G (p.Met238Arg) c.*450T>G (n.*450T>G) c.1133T>G (p.Met378Arg) c.959T>G (p.Met320Arg) c.461T>G (p.Met154Arg) n.1727T>G | |
| 6 | g.45512315T= | CA1625477272 | RUNX2 | c.887T= (p.Met296=) c.929T= (p.Met310=) c.713T= (p.Met238=) c.*450T= (n.*450T=) c.1133T= (p.Met378=) c.959T= (p.Met320=) c.461T= (p.Met154=) n.1727T= | |
| 6 | g.45512316G>A | CA363955976 | RUNX2 | c.888G>A (p.Met296Ile) c.930G>A (p.Met310Ile) c.714G>A (p.Met238Ile) c.*451G>A (n.*451G>A) c.1134G>A (p.Met378Ile) c.960G>A (p.Met320Ile) c.462G>A (p.Met154Ile) n.1728G>A | gnomAD v4 |
| 6 | g.45512316G>C | CA363955977 | RUNX2 | c.888G>C (p.Met296Ile) c.930G>C (p.Met310Ile) c.714G>C (p.Met238Ile) c.*451G>C (n.*451G>C) c.1134G>C (p.Met378Ile) c.960G>C (p.Met320Ile) c.462G>C (p.Met154Ile) n.1728G>C | |
| 6 | g.45512316G>T | CA363955978 | RUNX2 | c.888G>T (p.Met296Ile) c.930G>T (p.Met310Ile) c.714G>T (p.Met238Ile) c.*451G>T (n.*451G>T) c.1134G>T (p.Met378Ile) c.960G>T (p.Met320Ile) c.462G>T (p.Met154Ile) n.1728G>T | |
| 6 | g.45512317A>C | CA363955979 | RUNX2 | c.889A>C (p.Thr297Pro) c.931A>C (p.Thr311Pro) c.715A>C (p.Thr239Pro) c.*452A>C (n.*452A>C) c.1135A>C (p.Thr379Pro) c.961A>C (p.Thr321Pro) c.463A>C (p.Thr155Pro) n.1729A>C | |
| 6 | g.45512317A>G | CA363955980 | RUNX2 | c.889A>G (p.Thr297Ala) c.931A>G (p.Thr311Ala) c.715A>G (p.Thr239Ala) c.*452A>G (n.*452A>G) c.1135A>G (p.Thr379Ala) c.961A>G (p.Thr321Ala) c.463A>G (p.Thr155Ala) n.1729A>G | |
| 6 | g.45512317A>T | CA363955981 | RUNX2 | c.889A>T (p.Thr297Ser) c.931A>T (p.Thr311Ser) c.715A>T (p.Thr239Ser) c.*452A>T (n.*452A>T) c.1135A>T (p.Thr379Ser) c.961A>T (p.Thr321Ser) c.463A>T (p.Thr155Ser) n.1729A>T | |
| 6 | g.45512318C>A | CA363955982 | RUNX2 | c.890C>A (p.Thr297Lys) c.932C>A (p.Thr311Lys) c.716C>A (p.Thr239Lys) c.*453C>A (n.*453C>A) c.1136C>A (p.Thr379Lys) c.962C>A (p.Thr321Lys) c.464C>A (p.Thr155Lys) n.1730C>A | |
| 6 | g.45512318C= | CA1625477273 | RUNX2 | c.890C= (p.Thr297=) c.932C= (p.Thr311=) c.716C= (p.Thr239=) c.*453C= (n.*453C=) c.1136C= (p.Thr379=) c.962C= (p.Thr321=) c.464C= (p.Thr155=) n.1730C= | |
| 6 | g.45512318C>G | CA363955983 | RUNX2 | c.890C>G (p.Thr297Arg) c.932C>G (p.Thr311Arg) c.716C>G (p.Thr239Arg) c.*453C>G (n.*453C>G) c.1136C>G (p.Thr379Arg) c.962C>G (p.Thr321Arg) c.464C>G (p.Thr155Arg) n.1730C>G | |
| 6 | g.45512318C>T | CA3836528 | RUNX2 | c.890C>T (p.Thr297Met) c.932C>T (p.Thr311Met) c.716C>T (p.Thr239Met) c.*453C>T (n.*453C>T) c.1136C>T (p.Thr379Met) c.962C>T (p.Thr321Met) c.464C>T (p.Thr155Met) n.1730C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512323_45512328del | CA2678962248 | RUNX2 | c.895_900del (p.Pro299_Ser300del) c.937_942del (p.Pro313_Ser314del) c.721_726del (p.Pro241_Ser242del) c.*458_*463del (n.*458_*463del) c.1141_1146del (p.Pro381_Ser382del) c.967_972del (p.Pro323_Ser324del) c.469_474del (p.Pro157_Ser158del) n.1735_1740del | gnomAD v4 |
| 6 | g.45512319_45512331del | CA2573320565 | RUNX2 | c.891_903del (p.Ser298ThrfsTer?) c.933_945del (p.Ser312ThrfsTer?) c.717_729del (p.Ser240ThrfsTer?) c.*454_*466del (n.*454_*466del) c.1137_1149del (p.Ser380ThrfsTer?) c.963_975del (p.Ser322ThrfsTer?) c.465_477del (p.Ser156ThrfsTer?) | |
| 6 | g.45512319G>A | CA3836529 | RUNX2 | c.891G>A (p.Thr297=) c.933G>A (p.Thr311=) c.717G>A (p.Thr239=) c.*454G>A (n.*454G>A) c.1137G>A (p.Thr379=) c.963G>A (p.Thr321=) c.465G>A (p.Thr155=) n.1731G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512319G>C | CA450153225 | RUNX2 | c.891G>C (p.Thr297=) c.933G>C (p.Thr311=) c.717G>C (p.Thr239=) c.*454G>C (n.*454G>C) c.1137G>C (p.Thr379=) c.963G>C (p.Thr321=) c.465G>C (p.Thr155=) n.1731G>C | |
| 6 | g.45512319G= | CA1625477274 | RUNX2 | c.891G= (p.Thr297=) c.933G= (p.Thr311=) c.717G= (p.Thr239=) c.*454G= (n.*454G=) c.1137G= (p.Thr379=) c.963G= (p.Thr321=) c.465G= (p.Thr155=) n.1731G= | |
| 6 | g.45512319G>T | CA450153224 | RUNX2 | c.891G>T (p.Thr297=) c.933G>T (p.Thr311=) c.717G>T (p.Thr239=) c.*454G>T (n.*454G>T) c.1137G>T (p.Thr379=) c.963G>T (p.Thr321=) c.465G>T (p.Thr155=) n.1731G>T | |
| 6 | g.45512320T>A | CA363955984 | RUNX2 | c.892T>A (p.Ser298Thr) c.934T>A (p.Ser312Thr) c.718T>A (p.Ser240Thr) c.*455T>A (n.*455T>A) c.1138T>A (p.Ser380Thr) c.964T>A (p.Ser322Thr) c.466T>A (p.Ser156Thr) n.1732T>A | gnomAD v4 |
| 6 | g.45512320T>C | CA138453344 | RUNX2 | c.892T>C (p.Ser298Pro) c.934T>C (p.Ser312Pro) c.718T>C (p.Ser240Pro) c.*455T>C (n.*455T>C) c.1138T>C (p.Ser380Pro) c.964T>C (p.Ser322Pro) c.466T>C (p.Ser156Pro) n.1732T>C | dbSNP |
| 6 | g.45512320T>G | CA363955985 | RUNX2 | c.892T>G (p.Ser298Ala) c.934T>G (p.Ser312Ala) c.718T>G (p.Ser240Ala) c.*455T>G (n.*455T>G) c.1138T>G (p.Ser380Ala) c.964T>G (p.Ser322Ala) c.466T>G (p.Ser156Ala) n.1732T>G | |
| 6 | g.45512320T= | CA1625477275 | RUNX2 | c.892T= (p.Ser298=) c.934T= (p.Ser312=) c.718T= (p.Ser240=) c.*455T= (n.*455T=) c.1138T= (p.Ser380=) c.964T= (p.Ser322=) c.466T= (p.Ser156=) n.1732T= | |
| 6 | g.45512321C>A | CA363955988 | RUNX2 | c.893C>A (p.Ser298Tyr) c.935C>A (p.Ser312Tyr) c.719C>A (p.Ser240Tyr) c.*456C>A (n.*456C>A) c.1139C>A (p.Ser380Tyr) c.965C>A (p.Ser322Tyr) c.467C>A (p.Ser156Tyr) n.1733C>A | gnomAD v4 |
| 6 | g.45512321C>G | CA363955987 | RUNX2 | c.893C>G (p.Ser298Cys) c.935C>G (p.Ser312Cys) c.719C>G (p.Ser240Cys) c.*456C>G (n.*456C>G) c.1139C>G (p.Ser380Cys) c.965C>G (p.Ser322Cys) c.467C>G (p.Ser156Cys) n.1733C>G | |
| 6 | g.45512321C>T | CA363955986 | RUNX2 | c.893C>T (p.Ser298Phe) c.935C>T (p.Ser312Phe) c.719C>T (p.Ser240Phe) c.*456C>T (n.*456C>T) c.1139C>T (p.Ser380Phe) c.965C>T (p.Ser322Phe) c.467C>T (p.Ser156Phe) n.1733C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 6 | g.45512324del | CA2695206405 | RUNX2 | c.896del (p.Pro299ArgfsTer?) c.938del (p.Pro313ArgfsTer?) c.722del (p.Pro241ArgfsTer?) c.*459del (n.*459del) c.1142del (p.Pro381ArgfsTer?) c.968del (p.Pro323ArgfsTer?) c.470del (p.Pro157ArgfsTer?) n.1736del | |
| 6 | g.45512322C>A | CA450153235 | RUNX2 | c.894C>A (p.Ser298=) c.936C>A (p.Ser312=) c.720C>A (p.Ser240=) c.*457C>A (n.*457C>A) c.1140C>A (p.Ser380=) c.966C>A (p.Ser322=) c.468C>A (p.Ser156=) n.1734C>A | dbSNP |
| 6 | g.45512322C= | CA1625477276 | RUNX2 | c.894C= (p.Ser298=) c.936C= (p.Ser312=) c.720C= (p.Ser240=) c.*457C= (n.*457C=) c.1140C= (p.Ser380=) c.966C= (p.Ser322=) c.468C= (p.Ser156=) n.1734C= | |
| 6 | g.45512322C>G | CA450153237 | RUNX2 | c.894C>G (p.Ser298=) c.936C>G (p.Ser312=) c.720C>G (p.Ser240=) c.*457C>G (n.*457C>G) c.1140C>G (p.Ser380=) c.966C>G (p.Ser322=) c.468C>G (p.Ser156=) n.1734C>G | |
| 6 | g.45512322C>T | CA450153239 | RUNX2 | c.894C>T (p.Ser298=) c.936C>T (p.Ser312=) c.720C>T (p.Ser240=) c.*457C>T (n.*457C>T) c.1140C>T (p.Ser380=) c.966C>T (p.Ser322=) c.468C>T (p.Ser156=) n.1734C>T | |
| 6 | g.45512323C>A | CA363955989 | RUNX2 | c.895C>A (p.Pro299Thr) c.937C>A (p.Pro313Thr) c.721C>A (p.Pro241Thr) c.*458C>A (n.*458C>A) c.1141C>A (p.Pro381Thr) c.967C>A (p.Pro323Thr) c.469C>A (p.Pro157Thr) n.1735C>A | |
| 6 | g.45512323C= | CA1625477277 | RUNX2 | c.895C= (p.Pro299=) c.937C= (p.Pro313=) c.721C= (p.Pro241=) c.*458C= (n.*458C=) c.1141C= (p.Pro381=) c.967C= (p.Pro323=) c.469C= (p.Pro157=) n.1735C= | |
| 6 | g.45512323C>G | CA3836530 | RUNX2 | c.895C>G (p.Pro299Ala) c.937C>G (p.Pro313Ala) c.721C>G (p.Pro241Ala) c.*458C>G (n.*458C>G) c.1141C>G (p.Pro381Ala) c.967C>G (p.Pro323Ala) c.469C>G (p.Pro157Ala) n.1735C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.45512323C>T | CA363955990 | RUNX2 | c.895C>T (p.Pro299Ser) c.937C>T (p.Pro313Ser) c.721C>T (p.Pro241Ser) c.*458C>T (n.*458C>T) c.1141C>T (p.Pro381Ser) c.967C>T (p.Pro323Ser) c.469C>T (p.Pro157Ser) n.1735C>T | |
| 6 | g.45512324C>A | CA363955991 | RUNX2 | c.896C>A (p.Pro299Gln) c.938C>A (p.Pro313Gln) c.722C>A (p.Pro241Gln) c.*459C>A (n.*459C>A) c.1142C>A (p.Pro381Gln) c.968C>A (p.Pro323Gln) c.470C>A (p.Pro157Gln) n.1736C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512324C= | CA1625477278 | RUNX2 | c.896C= (p.Pro299=) c.938C= (p.Pro313=) c.722C= (p.Pro241=) c.*459C= (n.*459C=) c.1142C= (p.Pro381=) c.968C= (p.Pro323=) c.470C= (p.Pro157=) n.1736C= | |
| 6 | g.45512324C>G | CA3836531 | RUNX2 | c.896C>G (p.Pro299Arg) c.938C>G (p.Pro313Arg) c.722C>G (p.Pro241Arg) c.*459C>G (n.*459C>G) c.1142C>G (p.Pro381Arg) c.968C>G (p.Pro323Arg) c.470C>G (p.Pro157Arg) n.1736C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512324C>T | CA138453347 | RUNX2 | c.896C>T (p.Pro299Leu) c.938C>T (p.Pro313Leu) c.722C>T (p.Pro241Leu) c.*459C>T (n.*459C>T) c.1142C>T (p.Pro381Leu) c.968C>T (p.Pro323Leu) c.470C>T (p.Pro157Leu) n.1736C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.45512325G>A | CA450153252 | RUNX2 | c.897G>A (p.Pro299=) c.939G>A (p.Pro313=) c.723G>A (p.Pro241=) c.*460G>A (n.*460G>A) c.1143G>A (p.Pro381=) c.969G>A (p.Pro323=) c.471G>A (p.Pro157=) n.1737G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512325G>C | CA450153254 | RUNX2 | c.897G>C (p.Pro299=) c.939G>C (p.Pro313=) c.723G>C (p.Pro241=) c.*460G>C (n.*460G>C) c.1143G>C (p.Pro381=) c.969G>C (p.Pro323=) c.471G>C (p.Pro157=) n.1737G>C | |
| 6 | g.45512325G= | CA1625477279 | RUNX2 | c.897G= (p.Pro299=) c.939G= (p.Pro313=) c.723G= (p.Pro241=) c.*460G= (n.*460G=) c.1143G= (p.Pro381=) c.969G= (p.Pro323=) c.471G= (p.Pro157=) n.1737G= | |
| 6 | g.45512325G>T | CA3836532 | RUNX2 | c.897G>T (p.Pro299=) c.939G>T (p.Pro313=) c.723G>T (p.Pro241=) c.*460G>T (n.*460G>T) c.1143G>T (p.Pro381=) c.969G>T (p.Pro323=) c.471G>T (p.Pro157=) n.1737G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.45512326T>A | CA363955992 | RUNX2 | c.898T>A (p.Ser300Thr) c.940T>A (p.Ser314Thr) c.724T>A (p.Ser242Thr) c.*461T>A (n.*461T>A) c.1144T>A (p.Ser382Thr) c.970T>A (p.Ser324Thr) c.472T>A (p.Ser158Thr) n.1738T>A | |
| 6 | g.45512326T>C | CA3836533 | RUNX2 | c.898T>C (p.Ser300Pro) c.940T>C (p.Ser314Pro) c.724T>C (p.Ser242Pro) c.*461T>C (n.*461T>C) c.1144T>C (p.Ser382Pro) c.970T>C (p.Ser324Pro) c.472T>C (p.Ser158Pro) n.1738T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.45512326T>G | CA363955993 | RUNX2 | c.898T>G (p.Ser300Ala) c.940T>G (p.Ser314Ala) c.724T>G (p.Ser242Ala) c.*461T>G (n.*461T>G) c.1144T>G (p.Ser382Ala) c.970T>G (p.Ser324Ala) c.472T>G (p.Ser158Ala) n.1738T>G | |
| 6 | g.45512326T= | CA1625477280 | RUNX2 | c.898T= (p.Ser300=) c.940T= (p.Ser314=) c.724T= (p.Ser242=) c.*461T= (n.*461T=) c.1144T= (p.Ser382=) c.970T= (p.Ser324=) c.472T= (p.Ser158=) n.1738T= | |
| 6 | g.45512327C>A | CA363955994 | RUNX2 | c.899C>A (p.Ser300Tyr) c.941C>A (p.Ser314Tyr) c.725C>A (p.Ser242Tyr) c.*462C>A (n.*462C>A) c.1145C>A (p.Ser382Tyr) c.971C>A (p.Ser324Tyr) c.473C>A (p.Ser158Tyr) n.1739C>A | |
| 6 | g.45512327C= | CA1625477281 | RUNX2 | c.899C= (p.Ser300=) c.941C= (p.Ser314=) c.725C= (p.Ser242=) c.*462C= (n.*462C=) c.1145C= (p.Ser382=) c.971C= (p.Ser324=) c.473C= (p.Ser158=) n.1739C= | |
| 6 | g.45512327C>G | CA363955995 | RUNX2 | c.899C>G (p.Ser300Cys) c.941C>G (p.Ser314Cys) c.725C>G (p.Ser242Cys) c.*462C>G (n.*462C>G) c.1145C>G (p.Ser382Cys) c.971C>G (p.Ser324Cys) c.473C>G (p.Ser158Cys) n.1739C>G | |
| 6 | g.45512327C>T | CA363955996 | RUNX2 | c.899C>T (p.Ser300Phe) c.941C>T (p.Ser314Phe) c.725C>T (p.Ser242Phe) c.*462C>T (n.*462C>T) c.1145C>T (p.Ser382Phe) c.971C>T (p.Ser324Phe) c.473C>T (p.Ser158Phe) n.1739C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.45512328C>A | CA450153273 | RUNX2 | c.900C>A (p.Ser300=) c.942C>A (p.Ser314=) c.726C>A (p.Ser242=) c.*463C>A (n.*463C>A) c.1146C>A (p.Ser382=) c.972C>A (p.Ser324=) c.474C>A (p.Ser158=) n.1740C>A | |
| 6 | g.45512328C= | CA1625477282 | RUNX2 | c.900C= (p.Ser300=) c.942C= (p.Ser314=) c.726C= (p.Ser242=) c.*463C= (n.*463C=) c.1146C= (p.Ser382=) c.972C= (p.Ser324=) c.474C= (p.Ser158=) n.1740C= | |
| 6 | g.45512328C>G | CA450153268 | RUNX2 | c.900C>G (p.Ser300=) c.942C>G (p.Ser314=) c.726C>G (p.Ser242=) c.*463C>G (n.*463C>G) c.1146C>G (p.Ser382=) c.972C>G (p.Ser324=) c.474C>G (p.Ser158=) n.1740C>G | |
| 6 | g.45512328C>T | CA138453351 | RUNX2 | c.900C>T (p.Ser300=) c.942C>T (p.Ser314=) c.726C>T (p.Ser242=) c.*463C>T (n.*463C>T) c.1146C>T (p.Ser382=) c.972C>T (p.Ser324=) c.474C>T (p.Ser158=) n.1740C>T | dbSNP |
| 6 | g.45512329A= | CA1625477283 | RUNX2 | c.901A= (p.Ile301=) c.943A= (p.Ile315=) c.727A= (p.Ile243=) c.*464A= (n.*464A=) c.1147A= (p.Ile383=) c.973A= (p.Ile325=) c.475A= (p.Ile159=) n.1741A= | |
| 6 | g.45512329A>C | CA363955997 | RUNX2 | c.901A>C (p.Ile301Leu) c.943A>C (p.Ile315Leu) c.727A>C (p.Ile243Leu) c.*464A>C (n.*464A>C) c.1147A>C (p.Ile383Leu) c.973A>C (p.Ile325Leu) c.475A>C (p.Ile159Leu) n.1741A>C | |
| 6 | g.45512329A>G | CA138453353 | RUNX2 | c.901A>G (p.Ile301Val) c.943A>G (p.Ile315Val) c.727A>G (p.Ile243Val) c.*464A>G (n.*464A>G) c.1147A>G (p.Ile383Val) c.973A>G (p.Ile325Val) c.475A>G (p.Ile159Val) n.1741A>G | dbSNP |
| 6 | g.45512329A>T | CA363955998 | RUNX2 | c.901A>T (p.Ile301Phe) c.943A>T (p.Ile315Phe) c.727A>T (p.Ile243Phe) c.*464A>T (n.*464A>T) c.1147A>T (p.Ile383Phe) c.973A>T (p.Ile325Phe) c.475A>T (p.Ile159Phe) n.1741A>T | |
| 6 | g.45512330T>A | CA363955999 | RUNX2 | c.902T>A (p.Ile301Asn) c.944T>A (p.Ile315Asn) c.728T>A (p.Ile243Asn) c.*465T>A (n.*465T>A) c.1148T>A (p.Ile383Asn) c.974T>A (p.Ile325Asn) c.476T>A (p.Ile159Asn) n.1742T>A | |
| 6 | g.45512330T>C | CA363956001 | RUNX2 | c.902T>C (p.Ile301Thr) c.944T>C (p.Ile315Thr) c.728T>C (p.Ile243Thr) c.*465T>C (n.*465T>C) c.1148T>C (p.Ile383Thr) c.974T>C (p.Ile325Thr) c.476T>C (p.Ile159Thr) n.1742T>C | |
| 6 | g.45512330T>G | CA363956000 | RUNX2 | c.902T>G (p.Ile301Ser) c.944T>G (p.Ile315Ser) c.728T>G (p.Ile243Ser) c.*465T>G (n.*465T>G) c.1148T>G (p.Ile383Ser) c.974T>G (p.Ile325Ser) c.476T>G (p.Ile159Ser) n.1742T>G | |
| 6 | g.45512331C>A | CA450153284 | RUNX2 | c.903C>A (p.Ile301=) c.945C>A (p.Ile315=) c.729C>A (p.Ile243=) c.*466C>A (n.*466C>A) c.1149C>A (p.Ile383=) c.975C>A (p.Ile325=) c.477C>A (p.Ile159=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.45512331C= | CA1625477284 | RUNX2 | c.903C= (p.Ile301=) c.945C= (p.Ile315=) c.729C= (p.Ile243=) c.*466C= (n.*466C=) c.1149C= (p.Ile383=) c.975C= (p.Ile325=) c.477C= (p.Ile159=) | |
| 6 | g.45512331C>G | CA363956002 | RUNX2 | c.903C>G (p.Ile301Met) c.945C>G (p.Ile315Met) c.729C>G (p.Ile243Met) c.*466C>G (n.*466C>G) c.1149C>G (p.Ile383Met) c.975C>G (p.Ile325Met) c.477C>G (p.Ile159Met) | |
| 6 | g.45512331C>T | CA450153289 | RUNX2 | c.903C>T (p.Ile301=) c.945C>T (p.Ile315=) c.729C>T (p.Ile243=) c.*466C>T (n.*466C>T) c.1149C>T (p.Ile383=) c.975C>T (p.Ile325=) c.477C>T (p.Ile159=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.45512332C>A | CA363956005 | RUNX2 | c.904C>A (p.His302Asn) c.946C>A (p.His316Asn) c.730C>A (p.His244Asn) c.*467C>A (n.*467C>A) c.1150C>A (p.His384Asn) c.976C>A (p.His326Asn) c.478C>A (p.His160Asn) | |
| 6 | g.45512332C>G | CA363956003 | RUNX2 | c.904C>G (p.His302Asp) c.946C>G (p.His316Asp) c.730C>G (p.His244Asp) c.*467C>G (n.*467C>G) c.1150C>G (p.His384Asp) c.976C>G (p.His326Asp) c.478C>G (p.His160Asp) | |
| 6 | g.45512332C>T | CA363956004 | RUNX2 | c.904C>T (p.His302Tyr) c.946C>T (p.His316Tyr) c.730C>T (p.His244Tyr) c.*467C>T (n.*467C>T) c.1150C>T (p.His384Tyr) c.976C>T (p.His326Tyr) c.478C>T (p.His160Tyr) | |
| 6 | g.45512333del | CA2695206406 | RUNX2 | c.905del (p.His302ProfsTer?) c.947del (p.His316ProfsTer?) c.731del (p.His244ProfsTer?) c.*468del (n.*468del) c.1151del (p.His384ProfsTer?) c.977del (p.His326ProfsTer?) c.479del (p.His160ProfsTer?) | |
| 6 | g.45512333A>C | CA363956006 | RUNX2 | c.905A>C (p.His302Pro) c.947A>C (p.His316Pro) c.731A>C (p.His244Pro) c.*468A>C (n.*468A>C) c.1151A>C (p.His384Pro) c.977A>C (p.His326Pro) c.479A>C (p.His160Pro) | |
| 6 | g.45512333A>G | CA363956007 | RUNX2 | c.905A>G (p.His302Arg) c.947A>G (p.His316Arg) c.731A>G (p.His244Arg) c.*468A>G (n.*468A>G) c.1151A>G (p.His384Arg) c.977A>G (p.His326Arg) c.479A>G (p.His160Arg) | gnomAD v4 |
| 6 | g.45512333A>T | CA363956008 | RUNX2 | c.905A>T (p.His302Leu) c.947A>T (p.His316Leu) c.731A>T (p.His244Leu) c.*468A>T (n.*468A>T) c.1151A>T (p.His384Leu) c.977A>T (p.His326Leu) c.479A>T (p.His160Leu) | |
| 6 | g.45512334C>A | CA363956009 | RUNX2 | c.906C>A (p.His302Gln) c.948C>A (p.His316Gln) c.732C>A (p.His244Gln) c.*469C>A (n.*469C>A) c.1152C>A (p.His384Gln) c.978C>A (p.His326Gln) c.480C>A (p.His160Gln) | gnomAD v4 |
| 6 | g.45512334C>G | CA363956010 | RUNX2 | c.906C>G (p.His302Gln) c.948C>G (p.His316Gln) c.732C>G (p.His244Gln) c.*469C>G (n.*469C>G) c.1152C>G (p.His384Gln) c.978C>G (p.His326Gln) c.480C>G (p.His160Gln) | |
| 6 | g.45512334C>T | CA450153302 | RUNX2 | c.906C>T (p.His302=) c.948C>T (p.His316=) c.732C>T (p.His244=) c.*469C>T (n.*469C>T) c.1152C>T (p.His384=) c.978C>T (p.His326=) c.480C>T (p.His160=) | |
| 6 | g.45512335T>A | CA363956011 | RUNX2 | c.907T>A (p.Ser303Thr) c.949T>A (p.Ser317Thr) c.733T>A (p.Ser245Thr) c.*470T>A (n.*470T>A) c.1153T>A (p.Ser385Thr) c.979T>A (p.Ser327Thr) c.481T>A (p.Ser161Thr) | |
| 6 | g.45512335T>C | CA363956012 | RUNX2 | c.907T>C (p.Ser303Pro) c.949T>C (p.Ser317Pro) c.733T>C (p.Ser245Pro) c.*470T>C (n.*470T>C) c.1153T>C (p.Ser385Pro) c.979T>C (p.Ser327Pro) c.481T>C (p.Ser161Pro) | |
| 6 | g.45512335T>G | CA363956013 | RUNX2 | c.907T>G (p.Ser303Ala) c.949T>G (p.Ser317Ala) c.733T>G (p.Ser245Ala) c.*470T>G (n.*470T>G) c.1153T>G (p.Ser385Ala) c.979T>G (p.Ser327Ala) c.481T>G (p.Ser161Ala) | |
| 6 | g.45512336C>A | CA363956016 | RUNX2 | c.908C>A (p.Ser303Tyr) c.950C>A (p.Ser317Tyr) c.734C>A (p.Ser245Tyr) c.*471C>A (n.*471C>A) c.1154C>A (p.Ser385Tyr) c.980C>A (p.Ser327Tyr) c.482C>A (p.Ser161Tyr) | |
| 6 | g.45512336C>G | CA363956015 | RUNX2 | c.908C>G (p.Ser303Cys) c.950C>G (p.Ser317Cys) c.734C>G (p.Ser245Cys) c.*471C>G (n.*471C>G) c.1154C>G (p.Ser385Cys) c.980C>G (p.Ser327Cys) c.482C>G (p.Ser161Cys) | |
| 6 | g.45512336C>T | CA363956014 | RUNX2 | c.908C>T (p.Ser303Phe) c.950C>T (p.Ser317Phe) c.734C>T (p.Ser245Phe) c.*471C>T (n.*471C>T) c.1154C>T (p.Ser385Phe) c.980C>T (p.Ser327Phe) c.482C>T (p.Ser161Phe) | |
| 6 | g.45512336_45512357del | CA2695206407 | RUNX2 | c.908_929del (p.Ser303TyrfsTer30) c.950_971del (p.Ser317TyrfsTer?) c.908_929del (p.Ser303TyrfsTer?) c.734_755del (p.Ser245TyrfsTer30) c.*471_*492del (n.*471_*492del) c.734_755del (p.Ser245TyrfsTer?) c.1154_1175del (p.Ser385TyrfsTer?) c.980_1001del (p.Ser327TyrfsTer?) c.1154_1175del (p.Ser385TyrfsTer30) c.482_503del (p.Ser161TyrfsTer?) | |
| 6 | g.45512337T>A | CA450153315 | RUNX2 | c.909T>A (p.Ser303=) c.951T>A (p.Ser317=) c.735T>A (p.Ser245=) c.*472T>A (n.*472T>A) c.1155T>A (p.Ser385=) c.981T>A (p.Ser327=) c.483T>A (p.Ser161=) | |
| 6 | g.45512337T>C | CA450153317 | RUNX2 | c.909T>C (p.Ser303=) c.951T>C (p.Ser317=) c.735T>C (p.Ser245=) c.*472T>C (n.*472T>C) c.1155T>C (p.Ser385=) c.981T>C (p.Ser327=) c.483T>C (p.Ser161=) | dbSNP |
| 6 | g.45512337T>G | CA450153319 | RUNX2 | c.909T>G (p.Ser303=) c.951T>G (p.Ser317=) c.735T>G (p.Ser245=) c.*472T>G (n.*472T>G) c.1155T>G (p.Ser385=) c.981T>G (p.Ser327=) c.483T>G (p.Ser161=) | |
| 6 | g.45512337T= | CA1625477285 | RUNX2 | c.909T= (p.Ser303=) c.951T= (p.Ser317=) c.735T= (p.Ser245=) c.*472T= (n.*472T=) c.1155T= (p.Ser385=) c.981T= (p.Ser327=) c.483T= (p.Ser161=) | |
| 6 | g.45512338A= | CA1625477286 | RUNX2 | c.910A= (p.Thr304=) c.952A= (p.Thr318=) c.736A= (p.Thr246=) c.*473A= (n.*473A=) c.1156A= (p.Thr386=) c.982A= (p.Thr328=) c.484A= (p.Thr162=) | |
| 6 | g.45512338A>C | CA363956017 | RUNX2 | c.910A>C (p.Thr304Pro) c.952A>C (p.Thr318Pro) c.736A>C (p.Thr246Pro) c.*473A>C (n.*473A>C) c.1156A>C (p.Thr386Pro) c.982A>C (p.Thr328Pro) c.484A>C (p.Thr162Pro) | |
| 6 | g.45512338A>G | CA3836534 | RUNX2 | c.910A>G (p.Thr304Ala) c.952A>G (p.Thr318Ala) c.736A>G (p.Thr246Ala) c.*473A>G (n.*473A>G) c.1156A>G (p.Thr386Ala) c.982A>G (p.Thr328Ala) c.484A>G (p.Thr162Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.45512338A>T | CA363956018 | RUNX2 | c.910A>T (p.Thr304Ser) c.952A>T (p.Thr318Ser) c.736A>T (p.Thr246Ser) c.*473A>T (n.*473A>T) c.1156A>T (p.Thr386Ser) c.982A>T (p.Thr328Ser) c.484A>T (p.Thr162Ser) | |
| 6 | g.45512338_45512353delinsACCACCCCGCTGTCTT | CA1625477287 | RUNX2 | c.910_925delinsACCACCCCGCTGTCTT (p.Thr304=) c.952_967delinsACCACCCCGCTGTCTT (p.Thr318=) c.736_751delinsACCACCCCGCTGTCTT (p.Thr246=) c.*473_*488delinsACCACCCCGCTGTCTT (n.*473_*488delinsACCACCCCGCTGTCTT) c.1156_1171delinsACCACCCCGCTGTCTT (p.Thr386=) c.982_997delinsACCACCCCGCTGTCTT (p.Thr328=) c.484_499delinsACCACCCCGCTGTCTT (p.Thr162=) | |
| 6 | g.45512339C>A | CA363956019 | RUNX2 | c.911C>A (p.Thr304Asn) c.953C>A (p.Thr318Asn) c.737C>A (p.Thr246Asn) c.*474C>A (n.*474C>A) c.1157C>A (p.Thr386Asn) c.983C>A (p.Thr328Asn) c.485C>A (p.Thr162Asn) | gnomAD v4 |
| 6 | g.45512339C>G | CA363956020 | RUNX2 | c.911C>G (p.Thr304Ser) c.953C>G (p.Thr318Ser) c.737C>G (p.Thr246Ser) c.*474C>G (n.*474C>G) c.1157C>G (p.Thr386Ser) c.983C>G (p.Thr328Ser) c.485C>G (p.Thr162Ser) | |
| 6 | g.45512339C>T | CA363956021 | RUNX2 | c.911C>T (p.Thr304Ile) c.953C>T (p.Thr318Ile) c.737C>T (p.Thr246Ile) c.*474C>T (n.*474C>T) c.1157C>T (p.Thr386Ile) c.983C>T (p.Thr328Ile) c.485C>T (p.Thr162Ile) | |
| 6 | g.45512343_45512357del | CA567156310 | RUNX2 | c.915_929del (p.Pro306_Thr310del) c.957_971del (p.Pro320_Thr324del) c.741_755del (p.Pro248_Thr252del) c.*478_*492del (n.*478_*492del) c.1161_1175del (p.Pro388_Thr392del) c.987_1001del (p.Pro330_Thr334del) c.489_503del (p.Pro164_Thr168del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512340C>A | CA450153330 | RUNX2 | c.912C>A (p.Thr304=) c.954C>A (p.Thr318=) c.738C>A (p.Thr246=) c.*475C>A (n.*475C>A) c.1158C>A (p.Thr386=) c.984C>A (p.Thr328=) c.486C>A (p.Thr162=) | gnomAD v4 |
| 6 | g.45512340C>G | CA450153332 | RUNX2 | c.912C>G (p.Thr304=) c.954C>G (p.Thr318=) c.738C>G (p.Thr246=) c.*475C>G (n.*475C>G) c.1158C>G (p.Thr386=) c.984C>G (p.Thr328=) c.486C>G (p.Thr162=) | |
| 6 | g.45512340C>T | CA450153335 | RUNX2 | c.912C>T (p.Thr304=) c.954C>T (p.Thr318=) c.738C>T (p.Thr246=) c.*475C>T (n.*475C>T) c.1158C>T (p.Thr386=) c.984C>T (p.Thr328=) c.486C>T (p.Thr162=) | |
| 6 | g.45512341A>C | CA363956022 | RUNX2 | c.913A>C (p.Thr305Pro) c.955A>C (p.Thr319Pro) c.739A>C (p.Thr247Pro) c.*476A>C (n.*476A>C) c.1159A>C (p.Thr387Pro) c.985A>C (p.Thr329Pro) c.487A>C (p.Thr163Pro) | |
| 6 | g.45512341A>G | CA363956023 | RUNX2 | c.913A>G (p.Thr305Ala) c.955A>G (p.Thr319Ala) c.739A>G (p.Thr247Ala) c.*476A>G (n.*476A>G) c.1159A>G (p.Thr387Ala) c.985A>G (p.Thr329Ala) c.487A>G (p.Thr163Ala) | |
| 6 | g.45512341A>T | CA363956024 | RUNX2 | c.913A>T (p.Thr305Ser) c.955A>T (p.Thr319Ser) c.739A>T (p.Thr247Ser) c.*476A>T (n.*476A>T) c.1159A>T (p.Thr387Ser) c.985A>T (p.Thr329Ser) c.487A>T (p.Thr163Ser) | |
| 6 | g.45512342C>A | CA363956025 | RUNX2 | c.914C>A (p.Thr305Asn) c.956C>A (p.Thr319Asn) c.740C>A (p.Thr247Asn) c.*477C>A (n.*477C>A) c.1160C>A (p.Thr387Asn) c.986C>A (p.Thr329Asn) c.488C>A (p.Thr163Asn) | gnomAD v4 |
| 6 | g.45512342C>G | CA363956026 | RUNX2 | c.914C>G (p.Thr305Ser) c.956C>G (p.Thr319Ser) c.740C>G (p.Thr247Ser) c.*477C>G (n.*477C>G) c.1160C>G (p.Thr387Ser) c.986C>G (p.Thr329Ser) c.488C>G (p.Thr163Ser) | |
| 6 | g.45512342C>T | CA363956027 | RUNX2 | c.914C>T (p.Thr305Ile) c.956C>T (p.Thr319Ile) c.740C>T (p.Thr247Ile) c.*477C>T (n.*477C>T) c.1160C>T (p.Thr387Ile) c.986C>T (p.Thr329Ile) c.488C>T (p.Thr163Ile) | gnomAD v4 |
| 6 | g.45512343C>A | CA450153348 | RUNX2 | c.915C>A (p.Thr305=) c.957C>A (p.Thr319=) c.741C>A (p.Thr247=) c.*478C>A (n.*478C>A) c.1161C>A (p.Thr387=) c.987C>A (p.Thr329=) c.489C>A (p.Thr163=) | COSMIC COSMIC |
| 6 | g.45512343C= | CA1625477288 | RUNX2 | c.915C= (p.Thr305=) c.957C= (p.Thr319=) c.741C= (p.Thr247=) c.*478C= (n.*478C=) c.1161C= (p.Thr387=) c.987C= (p.Thr329=) c.489C= (p.Thr163=) | |
| 6 | g.45512343C>G | CA450153351 | RUNX2 | c.915C>G (p.Thr305=) c.957C>G (p.Thr319=) c.741C>G (p.Thr247=) c.*478C>G (n.*478C>G) c.1161C>G (p.Thr387=) c.987C>G (p.Thr329=) c.489C>G (p.Thr163=) | |
| 6 | g.45512343C>T | CA450153347 | RUNX2 | c.915C>T (p.Thr305=) c.957C>T (p.Thr319=) c.741C>T (p.Thr247=) c.*478C>T (n.*478C>T) c.1161C>T (p.Thr387=) c.987C>T (p.Thr329=) c.489C>T (p.Thr163=) | dbSNP gnomAD v4 |
| 6 | g.45512344C>A | CA363956029 | RUNX2 | c.916C>A (p.Pro306Thr) c.958C>A (p.Pro320Thr) c.742C>A (p.Pro248Thr) c.*479C>A (n.*479C>A) c.1162C>A (p.Pro388Thr) c.988C>A (p.Pro330Thr) c.490C>A (p.Pro164Thr) | |
| 6 | g.45512344C>G | CA363956030 | RUNX2 | c.916C>G (p.Pro306Ala) c.958C>G (p.Pro320Ala) c.742C>G (p.Pro248Ala) c.*479C>G (n.*479C>G) c.1162C>G (p.Pro388Ala) c.988C>G (p.Pro330Ala) c.490C>G (p.Pro164Ala) | |
| 6 | g.45512344C>T | CA363956028 | RUNX2 | c.916C>T (p.Pro306Ser) c.958C>T (p.Pro320Ser) c.742C>T (p.Pro248Ser) c.*479C>T (n.*479C>T) c.1162C>T (p.Pro388Ser) c.988C>T (p.Pro330Ser) c.490C>T (p.Pro164Ser) | |
| 6 | g.45512345C>A | CA363956031 | RUNX2 | c.917C>A (p.Pro306Gln) c.959C>A (p.Pro320Gln) c.743C>A (p.Pro248Gln) c.*480C>A (n.*480C>A) c.1163C>A (p.Pro388Gln) c.989C>A (p.Pro330Gln) c.491C>A (p.Pro164Gln) | |
| 6 | g.45512345C= | CA1625477289 | RUNX2 | c.917C= (p.Pro306=) c.959C= (p.Pro320=) c.743C= (p.Pro248=) c.*480C= (n.*480C=) c.1163C= (p.Pro388=) c.989C= (p.Pro330=) c.491C= (p.Pro164=) | |
| 6 | g.45512345C>G | CA363956032 | RUNX2 | c.917C>G (p.Pro306Arg) c.959C>G (p.Pro320Arg) c.743C>G (p.Pro248Arg) c.*480C>G (n.*480C>G) c.1163C>G (p.Pro388Arg) c.989C>G (p.Pro330Arg) c.491C>G (p.Pro164Arg) | |
| 6 | g.45512345C>T | CA3836535 | RUNX2 | c.917C>T (p.Pro306Leu) c.959C>T (p.Pro320Leu) c.743C>T (p.Pro248Leu) c.*480C>T (n.*480C>T) c.1163C>T (p.Pro388Leu) c.989C>T (p.Pro330Leu) c.491C>T (p.Pro164Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.45512346G>A | CA3836537 | RUNX2 | c.918G>A (p.Pro306=) c.960G>A (p.Pro320=) c.744G>A (p.Pro248=) c.*481G>A (n.*481G>A) c.1164G>A (p.Pro388=) c.990G>A (p.Pro330=) c.492G>A (p.Pro164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512346G>C | CA450153363 | RUNX2 | c.918G>C (p.Pro306=) c.960G>C (p.Pro320=) c.744G>C (p.Pro248=) c.*481G>C (n.*481G>C) c.1164G>C (p.Pro388=) c.990G>C (p.Pro330=) c.492G>C (p.Pro164=) | gnomAD v4 |
| 6 | g.45512346G= | CA1625477290 | RUNX2 | c.918G= (p.Pro306=) c.960G= (p.Pro320=) c.744G= (p.Pro248=) c.*481G= (n.*481G=) c.1164G= (p.Pro388=) c.990G= (p.Pro330=) c.492G= (p.Pro164=) | |
| 6 | g.45512346G>T | CA3836536 | RUNX2 | c.918G>T (p.Pro306=) c.960G>T (p.Pro320=) c.744G>T (p.Pro248=) c.*481G>T (n.*481G>T) c.1164G>T (p.Pro388=) c.990G>T (p.Pro330=) c.492G>T (p.Pro164=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.45512347C>A | CA363956034 | RUNX2 | c.919C>A (p.Leu307Met) c.961C>A (p.Leu321Met) c.745C>A (p.Leu249Met) c.*482C>A (n.*482C>A) c.1165C>A (p.Leu389Met) c.991C>A (p.Leu331Met) c.493C>A (p.Leu165Met) | |
| 6 | g.45512347C>G | CA363956033 | RUNX2 | c.919C>G (p.Leu307Val) c.961C>G (p.Leu321Val) c.745C>G (p.Leu249Val) c.*482C>G (n.*482C>G) c.1165C>G (p.Leu389Val) c.991C>G (p.Leu331Val) c.493C>G (p.Leu165Val) | |
| 6 | g.45512347C>T | CA450153370 | RUNX2 | c.919C>T (p.Leu307=) c.961C>T (p.Leu321=) c.745C>T (p.Leu249=) c.*482C>T (n.*482C>T) c.1165C>T (p.Leu389=) c.991C>T (p.Leu331=) c.493C>T (p.Leu165=) | |
| 6 | g.45512348T>A | CA363956035 | RUNX2 | c.920T>A (p.Leu307Gln) c.962T>A (p.Leu321Gln) c.746T>A (p.Leu249Gln) c.*483T>A (n.*483T>A) c.1166T>A (p.Leu389Gln) c.992T>A (p.Leu331Gln) c.494T>A (p.Leu165Gln) | |
| 6 | g.45512348T>C | CA363956036 | RUNX2 | c.920T>C (p.Leu307Pro) c.962T>C (p.Leu321Pro) c.746T>C (p.Leu249Pro) c.*483T>C (n.*483T>C) c.1166T>C (p.Leu389Pro) c.992T>C (p.Leu331Pro) c.494T>C (p.Leu165Pro) | gnomAD v4 |
| 6 | g.45512348T>G | CA363956037 | RUNX2 | c.920T>G (p.Leu307Arg) c.962T>G (p.Leu321Arg) c.746T>G (p.Leu249Arg) c.*483T>G (n.*483T>G) c.1166T>G (p.Leu389Arg) c.992T>G (p.Leu331Arg) c.494T>G (p.Leu165Arg) | |
| 6 | g.45512349G>A | CA450153415 | RUNX2 | c.921G>A (p.Leu307=) c.963G>A (p.Leu321=) c.747G>A (p.Leu249=) c.*484G>A (n.*484G>A) c.1167G>A (p.Leu389=) c.993G>A (p.Leu331=) c.495G>A (p.Leu165=) | |
| 6 | g.45512349G>C | CA450153417 | RUNX2 | c.921G>C (p.Leu307=) c.963G>C (p.Leu321=) c.747G>C (p.Leu249=) c.*484G>C (n.*484G>C) c.1167G>C (p.Leu389=) c.993G>C (p.Leu331=) c.495G>C (p.Leu165=) | |
| 6 | g.45512349G>T | CA450153420 | RUNX2 | c.921G>T (p.Leu307=) c.963G>T (p.Leu321=) c.747G>T (p.Leu249=) c.*484G>T (n.*484G>T) c.1167G>T (p.Leu389=) c.993G>T (p.Leu331=) c.495G>T (p.Leu165=) | |
| 6 | g.45512350T>A | CA363956038 | RUNX2 | c.922T>A (p.Ser308Thr) c.964T>A (p.Ser322Thr) c.748T>A (p.Ser250Thr) c.*485T>A (n.*485T>A) c.1168T>A (p.Ser390Thr) c.994T>A (p.Ser332Thr) c.496T>A (p.Ser166Thr) | |
| 6 | g.45512350T>C | CA363956039 | RUNX2 | c.922T>C (p.Ser308Pro) c.964T>C (p.Ser322Pro) c.748T>C (p.Ser250Pro) c.*485T>C (n.*485T>C) c.1168T>C (p.Ser390Pro) c.994T>C (p.Ser332Pro) c.496T>C (p.Ser166Pro) | |
| 6 | g.45512350T>G | CA363956040 | RUNX2 | c.922T>G (p.Ser308Ala) c.964T>G (p.Ser322Ala) c.748T>G (p.Ser250Ala) c.*485T>G (n.*485T>G) c.1168T>G (p.Ser390Ala) c.994T>G (p.Ser332Ala) c.496T>G (p.Ser166Ala) | |
| 6 | g.45512351C>A | CA363956041 | RUNX2 | c.923C>A (p.Ser308Tyr) c.965C>A (p.Ser322Tyr) c.749C>A (p.Ser250Tyr) c.*486C>A (n.*486C>A) c.1169C>A (p.Ser390Tyr) c.995C>A (p.Ser332Tyr) c.497C>A (p.Ser166Tyr) | |
| 6 | g.45512351C>G | CA363956043 | RUNX2 | c.923C>G (p.Ser308Cys) c.965C>G (p.Ser322Cys) c.749C>G (p.Ser250Cys) c.*486C>G (n.*486C>G) c.1169C>G (p.Ser390Cys) c.995C>G (p.Ser332Cys) c.497C>G (p.Ser166Cys) | |
| 6 | g.45512351C>T | CA363956042 | RUNX2 | c.923C>T (p.Ser308Phe) c.965C>T (p.Ser322Phe) c.749C>T (p.Ser250Phe) c.*486C>T (n.*486C>T) c.1169C>T (p.Ser390Phe) c.995C>T (p.Ser332Phe) c.497C>T (p.Ser166Phe) | COSMIC COSMIC |
| 6 | g.45512352T>A | CA450153434 | RUNX2 | c.924T>A (p.Ser308=) c.966T>A (p.Ser322=) c.750T>A (p.Ser250=) c.*487T>A (n.*487T>A) c.1170T>A (p.Ser390=) c.996T>A (p.Ser332=) c.498T>A (p.Ser166=) | |
| 6 | g.45512352T>C | CA450153436 | RUNX2 | c.924T>C (p.Ser308=) c.966T>C (p.Ser322=) c.750T>C (p.Ser250=) c.*487T>C (n.*487T>C) c.1170T>C (p.Ser390=) c.996T>C (p.Ser332=) c.498T>C (p.Ser166=) | |
| 6 | g.45512352T>G | CA450153439 | RUNX2 | c.924T>G (p.Ser308=) c.966T>G (p.Ser322=) c.750T>G (p.Ser250=) c.*487T>G (n.*487T>G) c.1170T>G (p.Ser390=) c.996T>G (p.Ser332=) c.498T>G (p.Ser166=) | |
| 6 | g.45512353T>A | CA363956044 | RUNX2 | c.925T>A (p.Ser309Thr) c.967T>A (p.Ser323Thr) c.751T>A (p.Ser251Thr) c.*488T>A (n.*488T>A) c.1171T>A (p.Ser391Thr) c.997T>A (p.Ser333Thr) c.499T>A (p.Ser167Thr) | |
| 6 | g.45512353T>C | CA363956045 | RUNX2 | c.925T>C (p.Ser309Pro) c.967T>C (p.Ser323Pro) c.751T>C (p.Ser251Pro) c.*488T>C (n.*488T>C) c.1171T>C (p.Ser391Pro) c.997T>C (p.Ser333Pro) c.499T>C (p.Ser167Pro) | |
| 6 | g.45512353T>G | CA363956046 | RUNX2 | c.925T>G (p.Ser309Ala) c.967T>G (p.Ser323Ala) c.751T>G (p.Ser251Ala) c.*488T>G (n.*488T>G) c.1171T>G (p.Ser391Ala) c.997T>G (p.Ser333Ala) c.499T>G (p.Ser167Ala) | |
| 6 | g.45512354C>A | CA363956047 | RUNX2 | c.926C>A (p.Ser309Tyr) c.968C>A (p.Ser323Tyr) c.752C>A (p.Ser251Tyr) c.*489C>A (n.*489C>A) c.1172C>A (p.Ser391Tyr) c.998C>A (p.Ser333Tyr) c.500C>A (p.Ser167Tyr) | |
| 6 | g.45512354C>G | CA363956048 | RUNX2 | c.926C>G (p.Ser309Cys) c.968C>G (p.Ser323Cys) c.752C>G (p.Ser251Cys) c.*489C>G (n.*489C>G) c.1172C>G (p.Ser391Cys) c.998C>G (p.Ser333Cys) c.500C>G (p.Ser167Cys) | |
| 6 | g.45512354C>T | CA363956049 | RUNX2 | c.926C>T (p.Ser309Phe) c.968C>T (p.Ser323Phe) c.752C>T (p.Ser251Phe) c.*489C>T (n.*489C>T) c.1172C>T (p.Ser391Phe) c.998C>T (p.Ser333Phe) c.500C>T (p.Ser167Phe) | |
| 6 | g.45512355C>A | CA450153456 | RUNX2 | c.927C>A (p.Ser309=) c.969C>A (p.Ser323=) c.753C>A (p.Ser251=) c.*490C>A (n.*490C>A) c.1173C>A (p.Ser391=) c.999C>A (p.Ser333=) c.501C>A (p.Ser167=) | COSMIC |
| 6 | g.45512355C>G | CA450153451 | RUNX2 | c.927C>G (p.Ser309=) c.969C>G (p.Ser323=) c.753C>G (p.Ser251=) c.*490C>G (n.*490C>G) c.1173C>G (p.Ser391=) c.999C>G (p.Ser333=) c.501C>G (p.Ser167=) | |
| 6 | g.45512355C>T | CA450153454 | RUNX2 | c.927C>T (p.Ser309=) c.969C>T (p.Ser323=) c.753C>T (p.Ser251=) c.*490C>T (n.*490C>T) c.1173C>T (p.Ser391=) c.999C>T (p.Ser333=) c.501C>T (p.Ser167=) | |
| 6 | g.45512356A>C | CA363956050 | RUNX2 | c.928A>C (p.Thr310Pro) c.970A>C (p.Thr324Pro) c.754A>C (p.Thr252Pro) c.*491A>C (n.*491A>C) c.1174A>C (p.Thr392Pro) c.1000A>C (p.Thr334Pro) c.502A>C (p.Thr168Pro) | |
| 6 | g.45512356A>G | CA363956051 | RUNX2 | c.928A>G (p.Thr310Ala) c.970A>G (p.Thr324Ala) c.754A>G (p.Thr252Ala) c.*491A>G (n.*491A>G) c.1174A>G (p.Thr392Ala) c.1000A>G (p.Thr334Ala) c.502A>G (p.Thr168Ala) | gnomAD v4 |
| 6 | g.45512356A>T | CA363956052 | RUNX2 | c.928A>T (p.Thr310Ser) c.970A>T (p.Thr324Ser) c.754A>T (p.Thr252Ser) c.*491A>T (n.*491A>T) c.1174A>T (p.Thr392Ser) c.1000A>T (p.Thr334Ser) c.502A>T (p.Thr168Ser) | |
| 6 | g.45512357C>A | CA363956053 | RUNX2 | c.929C>A (p.Thr310Lys) c.971C>A (p.Thr324Lys) c.755C>A (p.Thr252Lys) c.*492C>A (n.*492C>A) c.1175C>A (p.Thr392Lys) c.1001C>A (p.Thr334Lys) c.503C>A (p.Thr168Lys) | |
| 6 | g.45512357C>G | CA363956054 | RUNX2 | c.929C>G (p.Thr310Arg) c.971C>G (p.Thr324Arg) c.755C>G (p.Thr252Arg) c.*492C>G (n.*492C>G) c.1175C>G (p.Thr392Arg) c.1001C>G (p.Thr334Arg) c.503C>G (p.Thr168Arg) | |
| 6 | g.45512357C>T | CA363956055 | RUNX2 | c.929C>T (p.Thr310Ile) c.971C>T (p.Thr324Ile) c.755C>T (p.Thr252Ile) c.*492C>T (n.*492C>T) c.1175C>T (p.Thr392Ile) c.1001C>T (p.Thr334Ile) c.503C>T (p.Thr168Ile) | gnomAD v4 |
| 6 | g.45512358A= | CA1625477291 | RUNX2 | c.930A= (p.Thr310=) c.972A= (p.Thr324=) c.756A= (p.Thr252=) c.*493A= (n.*493A=) c.1176A= (p.Thr392=) c.1002A= (p.Thr334=) c.504A= (p.Thr168=) | |
| 6 | g.45512358A>C | CA450153465 | RUNX2 | c.930A>C (p.Thr310=) c.972A>C (p.Thr324=) c.756A>C (p.Thr252=) c.*493A>C (n.*493A>C) c.1176A>C (p.Thr392=) c.1002A>C (p.Thr334=) c.504A>C (p.Thr168=) | |
| 6 | g.45512358A>G | CA450153468 | RUNX2 | c.930A>G (p.Thr310=) c.972A>G (p.Thr324=) c.756A>G (p.Thr252=) c.*493A>G (n.*493A>G) c.1176A>G (p.Thr392=) c.1002A>G (p.Thr334=) c.504A>G (p.Thr168=) | gnomAD v4 |
| 6 | g.45512358A>T | CA3836538 | RUNX2 | c.930A>T (p.Thr310=) c.972A>T (p.Thr324=) c.756A>T (p.Thr252=) c.*493A>T (n.*493A>T) c.1176A>T (p.Thr392=) c.1002A>T (p.Thr334=) c.504A>T (p.Thr168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512359C>A | CA450153473 | RUNX2 | c.931C>A (p.Arg311=) c.973C>A (p.Arg325=) c.757C>A (p.Arg253=) c.*494C>A (n.*494C>A) c.1177C>A (p.Arg393=) c.1003C>A (p.Arg335=) c.505C>A (p.Arg169=) | COSMIC COSMIC |
| 6 | g.45512359C= | CA1625477292 | RUNX2 | c.931C= (p.Arg311=) c.973C= (p.Arg325=) c.757C= (p.Arg253=) c.*494C= (n.*494C=) c.1177C= (p.Arg393=) c.1003C= (p.Arg335=) c.505C= (p.Arg169=) | |
| 6 | g.45512359C>G | CA363956056 | RUNX2 | c.931C>G (p.Arg311Gly) c.973C>G (p.Arg325Gly) c.757C>G (p.Arg253Gly) c.*494C>G (n.*494C>G) c.1177C>G (p.Arg393Gly) c.1003C>G (p.Arg335Gly) c.505C>G (p.Arg169Gly) | dbSNP gnomAD v4 |
| 6 | g.45512359C>T | CA3836539 | RUNX2 | c.931C>T (p.Arg311Trp) c.973C>T (p.Arg325Trp) c.757C>T (p.Arg253Trp) c.*494C>T (n.*494C>T) c.1177C>T (p.Arg393Trp) c.1003C>T (p.Arg335Trp) c.505C>T (p.Arg169Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512360G>A | CA363956059 | RUNX2 | c.932G>A (p.Arg311Gln) c.974G>A (p.Arg325Gln) c.758G>A (p.Arg253Gln) c.*495G>A (n.*495G>A) c.1178G>A (p.Arg393Gln) c.1004G>A (p.Arg335Gln) c.506G>A (p.Arg169Gln) | gnomAD v4 COSMIC COSMIC |
| 6 | g.45512360G>C | CA363956057 | RUNX2 | c.932G>C (p.Arg311Pro) c.974G>C (p.Arg325Pro) c.758G>C (p.Arg253Pro) c.*495G>C (n.*495G>C) c.1178G>C (p.Arg393Pro) c.1004G>C (p.Arg335Pro) c.506G>C (p.Arg169Pro) | gnomAD v4 COSMIC COSMIC |
| 6 | g.45512360G>T | CA363956058 | RUNX2 | c.932G>T (p.Arg311Leu) c.974G>T (p.Arg325Leu) c.758G>T (p.Arg253Leu) c.*495G>T (n.*495G>T) c.1178G>T (p.Arg393Leu) c.1004G>T (p.Arg335Leu) c.506G>T (p.Arg169Leu) | |
| 6 | g.45512363del | CA2695206408 | RUNX2 | c.935del (p.Gly312AlafsTer28) c.977del (p.Gly326AlafsTer?) c.935del (p.Gly312AlafsTer?) c.761del (p.Gly254AlafsTer28) c.*498del (n.*498del) c.761del (p.Gly254AlafsTer?) c.1181del (p.Gly394AlafsTer?) c.1007del (p.Gly336AlafsTer?) c.1181del (p.Gly394AlafsTer28) c.509del (p.Gly170AlafsTer?) | |
| 6 | g.45512361G>A | CA450153485 | RUNX2 | c.933G>A (p.Arg311=) c.975G>A (p.Arg325=) c.759G>A (p.Arg253=) c.*496G>A (n.*496G>A) c.1179G>A (p.Arg393=) c.1005G>A (p.Arg335=) c.507G>A (p.Arg169=) | |
| 6 | g.45512361G>C | CA450153487 | RUNX2 | c.933G>C (p.Arg311=) c.975G>C (p.Arg325=) c.759G>C (p.Arg253=) c.*496G>C (n.*496G>C) c.1179G>C (p.Arg393=) c.1005G>C (p.Arg335=) c.507G>C (p.Arg169=) | |
| 6 | g.45512361G>T | CA450153494 | RUNX2 | c.933G>T (p.Arg311=) c.975G>T (p.Arg325=) c.759G>T (p.Arg253=) c.*496G>T (n.*496G>T) c.1179G>T (p.Arg393=) c.1005G>T (p.Arg335=) c.507G>T (p.Arg169=) | COSMIC COSMIC |
| 6 | g.45512362G>A | CA363956060 | RUNX2 | c.934G>A (p.Gly312Ser) c.976G>A (p.Gly326Ser) c.760G>A (p.Gly254Ser) c.*497G>A (n.*497G>A) c.1180G>A (p.Gly394Ser) c.1006G>A (p.Gly336Ser) c.508G>A (p.Gly170Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.45512362G>C | CA363956061 | RUNX2 | c.934G>C (p.Gly312Arg) c.976G>C (p.Gly326Arg) c.760G>C (p.Gly254Arg) c.*497G>C (n.*497G>C) c.1180G>C (p.Gly394Arg) c.1006G>C (p.Gly336Arg) c.508G>C (p.Gly170Arg) | |
| 6 | g.45512362G= | CA1625477294 | RUNX2 | c.934G= (p.Gly312=) c.976G= (p.Gly326=) c.760G= (p.Gly254=) c.*497G= (n.*497G=) c.1180G= (p.Gly394=) c.1006G= (p.Gly336=) c.508G= (p.Gly170=) | |
| 6 | g.45512362G>T | CA363956062 | RUNX2 | c.934G>T (p.Gly312Cys) c.976G>T (p.Gly326Cys) c.760G>T (p.Gly254Cys) c.*497G>T (n.*497G>T) c.1180G>T (p.Gly394Cys) c.1006G>T (p.Gly336Cys) c.508G>T (p.Gly170Cys) | |
| 6 | g.45512362_45512365delinsGGCA | CA1625477293 | RUNX2 | c.934_937delinsGGCA (p.Gly312=) c.976_979delinsGGCA (p.Gly326=) c.760_763delinsGGCA (p.Gly254=) c.*497_*500delinsGGCA (n.*497_*500delinsGGCA) c.1180_1183delinsGGCA (p.Gly394=) c.1006_1009delinsGGCA (p.Gly336=) c.508_511delinsGGCA (p.Gly170=) | |
| 6 | g.45512363G>A | CA363956063 | RUNX2 | c.935G>A (p.Gly312Asp) c.977G>A (p.Gly326Asp) c.761G>A (p.Gly254Asp) c.*498G>A (n.*498G>A) c.1181G>A (p.Gly394Asp) c.1007G>A (p.Gly336Asp) c.509G>A (p.Gly170Asp) | gnomAD v4 |
| 6 | g.45512363G>C | CA363956064 | RUNX2 | c.935G>C (p.Gly312Ala) c.977G>C (p.Gly326Ala) c.761G>C (p.Gly254Ala) c.*498G>C (n.*498G>C) c.1181G>C (p.Gly394Ala) c.1007G>C (p.Gly336Ala) c.509G>C (p.Gly170Ala) | |
| 6 | g.45512363G= | CA1625477295 | RUNX2 | c.935G= (p.Gly312=) c.977G= (p.Gly326=) c.761G= (p.Gly254=) c.*498G= (n.*498G=) c.1181G= (p.Gly394=) c.1007G= (p.Gly336=) c.509G= (p.Gly170=) | |
| 6 | g.45512363G>T | CA3836540 | RUNX2 | c.935G>T (p.Gly312Val) c.977G>T (p.Gly326Val) c.761G>T (p.Gly254Val) c.*498G>T (n.*498G>T) c.1181G>T (p.Gly394Val) c.1007G>T (p.Gly336Val) c.509G>T (p.Gly170Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.45512363_45512365del | CA567156311 | RUNX2 | c.935_937del (p.Gly312_Thr313delinsAla) c.977_979del (p.Gly326_Thr327delinsAla) c.761_763del (p.Gly254_Thr255delinsAla) c.*498_*500del (n.*498_*500del) c.1181_1183del (p.Gly394_Thr395delinsAla) c.1007_1009del (p.Gly336_Thr337delinsAla) c.509_511del (p.Gly170_Thr171delinsAla) | dbSNP gnomAD v2 |
| 6 | g.45512364C>A | CA450153511 | RUNX2 | c.936C>A (p.Gly312=) c.978C>A (p.Gly326=) c.762C>A (p.Gly254=) c.*499C>A (n.*499C>A) c.1182C>A (p.Gly394=) c.1008C>A (p.Gly336=) c.510C>A (p.Gly170=) | |
| 6 | g.45512364C>G | CA450153514 | RUNX2 | c.936C>G (p.Gly312=) c.978C>G (p.Gly326=) c.762C>G (p.Gly254=) c.*499C>G (n.*499C>G) c.1182C>G (p.Gly394=) c.1008C>G (p.Gly336=) c.510C>G (p.Gly170=) | |
| 6 | g.45512364C>T | CA450153516 | RUNX2 | c.936C>T (p.Gly312=) c.978C>T (p.Gly326=) c.762C>T (p.Gly254=) c.*499C>T (n.*499C>T) c.1182C>T (p.Gly394=) c.1008C>T (p.Gly336=) c.510C>T (p.Gly170=) | |
| 6 | g.45512365A>C | CA363956065 | RUNX2 | c.937A>C (p.Thr313Pro) c.979A>C (p.Thr327Pro) c.763A>C (p.Thr255Pro) c.*500A>C (n.*500A>C) c.1183A>C (p.Thr395Pro) c.1009A>C (p.Thr337Pro) c.511A>C (p.Thr171Pro) | |
| 6 | g.45512365A>G | CA363956066 | RUNX2 | c.937A>G (p.Thr313Ala) c.979A>G (p.Thr327Ala) c.763A>G (p.Thr255Ala) c.*500A>G (n.*500A>G) c.1183A>G (p.Thr395Ala) c.1009A>G (p.Thr337Ala) c.511A>G (p.Thr171Ala) | |
| 6 | g.45512365A>T | CA363956067 | RUNX2 | c.937A>T (p.Thr313Ser) c.979A>T (p.Thr327Ser) c.763A>T (p.Thr255Ser) c.*500A>T (n.*500A>T) c.1183A>T (p.Thr395Ser) c.1009A>T (p.Thr337Ser) c.511A>T (p.Thr171Ser) | gnomAD v4 |
| 6 | g.45512366C>A | CA363956070 | RUNX2 | c.938C>A (p.Thr313Asn) c.980C>A (p.Thr327Asn) c.764C>A (p.Thr255Asn) c.*501C>A (n.*501C>A) c.1184C>A (p.Thr395Asn) c.1010C>A (p.Thr337Asn) c.512C>A (p.Thr171Asn) | |
| 6 | g.45512366C>G | CA363956069 | RUNX2 | c.938C>G (p.Thr313Ser) c.980C>G (p.Thr327Ser) c.764C>G (p.Thr255Ser) c.*501C>G (n.*501C>G) c.1184C>G (p.Thr395Ser) c.1010C>G (p.Thr337Ser) c.512C>G (p.Thr171Ser) | ClinVar |
| 6 | g.45512366C>T | CA363956068 | RUNX2 | c.938C>T (p.Thr313Ile) c.980C>T (p.Thr327Ile) c.764C>T (p.Thr255Ile) c.*501C>T (n.*501C>T) c.1184C>T (p.Thr395Ile) c.1010C>T (p.Thr337Ile) c.512C>T (p.Thr171Ile) | |
| 6 | g.45512367T>A | CA450153530 | RUNX2 | c.939T>A (p.Thr313=) c.981T>A (p.Thr327=) c.765T>A (p.Thr255=) c.*502T>A (n.*502T>A) c.1185T>A (p.Thr395=) c.1011T>A (p.Thr337=) c.513T>A (p.Thr171=) | |
| 6 | g.45512367T>C | CA450153532 | RUNX2 | c.939T>C (p.Thr313=) c.981T>C (p.Thr327=) c.765T>C (p.Thr255=) c.*502T>C (n.*502T>C) c.1185T>C (p.Thr395=) c.1011T>C (p.Thr337=) c.513T>C (p.Thr171=) | |
| 6 | g.45512367T>G | CA450153536 | RUNX2 | c.939T>G (p.Thr313=) c.981T>G (p.Thr327=) c.765T>G (p.Thr255=) c.*502T>G (n.*502T>G) c.1185T>G (p.Thr395=) c.1011T>G (p.Thr337=) c.513T>G (p.Thr171=) | |
| 6 | g.45512368G>A | CA363956071 | RUNX2 | c.940G>A (p.Gly314Arg) c.982G>A (p.Gly328Arg) c.766G>A (p.Gly256Arg) c.*503G>A (n.*503G>A) c.1186G>A (p.Gly396Arg) c.1012G>A (p.Gly338Arg) c.514G>A (p.Gly172Arg) | |
| 6 | g.45512368G>C | CA363956072 | RUNX2 | c.940G>C (p.Gly314Arg) c.982G>C (p.Gly328Arg) c.766G>C (p.Gly256Arg) c.*503G>C (n.*503G>C) c.1186G>C (p.Gly396Arg) c.1012G>C (p.Gly338Arg) c.514G>C (p.Gly172Arg) | |
| 6 | g.45512368G>T | CA363956073 | RUNX2 | c.940G>T (p.Gly314Trp) c.982G>T (p.Gly328Trp) c.766G>T (p.Gly256Trp) c.*503G>T (n.*503G>T) c.1186G>T (p.Gly396Trp) c.1012G>T (p.Gly338Trp) c.514G>T (p.Gly172Trp) | |
| 6 | g.45512369G>A | CA363956074 | RUNX2 | c.941G>A (p.Gly314Glu) c.983G>A (p.Gly328Glu) c.767G>A (p.Gly256Glu) c.*504G>A (n.*504G>A) c.1187G>A (p.Gly396Glu) c.1013G>A (p.Gly338Glu) c.515G>A (p.Gly172Glu) | |
| 6 | g.45512369G>C | CA363956075 | RUNX2 | c.941G>C (p.Gly314Ala) c.983G>C (p.Gly328Ala) c.767G>C (p.Gly256Ala) c.*504G>C (n.*504G>C) c.1187G>C (p.Gly396Ala) c.1013G>C (p.Gly338Ala) c.515G>C (p.Gly172Ala) | |
| 6 | g.45512369G>T | CA363956076 | RUNX2 | c.941G>T (p.Gly314Val) c.983G>T (p.Gly328Val) c.767G>T (p.Gly256Val) c.*504G>T (n.*504G>T) c.1187G>T (p.Gly396Val) c.1013G>T (p.Gly338Val) c.515G>T (p.Gly172Val) | |
| 6 | g.45512370G>A | CA450153554 | RUNX2 | c.942G>A (p.Gly314=) c.984G>A (p.Gly328=) c.768G>A (p.Gly256=) c.*505G>A (n.*505G>A) c.1188G>A (p.Gly396=) c.1014G>A (p.Gly338=) c.516G>A (p.Gly172=) | dbSNP gnomAD v2 COSMIC COSMIC |
| 6 | g.45512370G>C | CA450153549 | RUNX2 | c.942G>C (p.Gly314=) c.984G>C (p.Gly328=) c.768G>C (p.Gly256=) c.*505G>C (n.*505G>C) c.1188G>C (p.Gly396=) c.1014G>C (p.Gly338=) c.516G>C (p.Gly172=) | |
| 6 | g.45512370G= | CA1625477296 | RUNX2 | c.942G= (p.Gly314=) c.984G= (p.Gly328=) c.768G= (p.Gly256=) c.*505G= (n.*505G=) c.1188G= (p.Gly396=) c.1014G= (p.Gly338=) c.516G= (p.Gly172=) | |
| 6 | g.45512370G>T | CA450153551 | RUNX2 | c.942G>T (p.Gly314=) c.984G>T (p.Gly328=) c.768G>T (p.Gly256=) c.*505G>T (n.*505G>T) c.1188G>T (p.Gly396=) c.1014G>T (p.Gly338=) c.516G>T (p.Gly172=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.45512371C>A | CA363956077 | RUNX2 | c.943C>A (p.Leu315Ile) c.985C>A (p.Leu329Ile) c.769C>A (p.Leu257Ile) c.*506C>A (n.*506C>A) c.1189C>A (p.Leu397Ile) c.1015C>A (p.Leu339Ile) c.517C>A (p.Leu173Ile) | |
| 6 | g.45512371C>G | CA363956078 | RUNX2 | c.943C>G (p.Leu315Val) c.985C>G (p.Leu329Val) c.769C>G (p.Leu257Val) c.*506C>G (n.*506C>G) c.1189C>G (p.Leu397Val) c.1015C>G (p.Leu339Val) c.517C>G (p.Leu173Val) | |
| 6 | g.45512371C>T | CA363956079 | RUNX2 | c.943C>T (p.Leu315Phe) c.985C>T (p.Leu329Phe) c.769C>T (p.Leu257Phe) c.*506C>T (n.*506C>T) c.1189C>T (p.Leu397Phe) c.1015C>T (p.Leu339Phe) c.517C>T (p.Leu173Phe) | |
| 6 | g.45512372T>A | CA363956080 | RUNX2 | c.944T>A (p.Leu315His) c.986T>A (p.Leu329His) c.770T>A (p.Leu257His) c.*507T>A (n.*507T>A) c.1190T>A (p.Leu397His) c.1016T>A (p.Leu339His) c.518T>A (p.Leu173His) | |
| 6 | g.45512372T>C | CA363956081 | RUNX2 | c.944T>C (p.Leu315Pro) c.986T>C (p.Leu329Pro) c.770T>C (p.Leu257Pro) c.*507T>C (n.*507T>C) c.1190T>C (p.Leu397Pro) c.1016T>C (p.Leu339Pro) c.518T>C (p.Leu173Pro) | |
| 6 | g.45512372T>G | CA363956082 | RUNX2 | c.944T>G (p.Leu315Arg) c.986T>G (p.Leu329Arg) c.770T>G (p.Leu257Arg) c.*507T>G (n.*507T>G) c.1190T>G (p.Leu397Arg) c.1016T>G (p.Leu339Arg) c.518T>G (p.Leu173Arg) | |
| 6 | g.45512373T>A | CA450153565 | RUNX2 | c.945T>A (p.Leu315=) c.987T>A (p.Leu329=) c.771T>A (p.Leu257=) c.*508T>A (n.*508T>A) c.1191T>A (p.Leu397=) c.1017T>A (p.Leu339=) c.519T>A (p.Leu173=) | |
| 6 | g.45512373T>C | CA450153568 | RUNX2 | c.945T>C (p.Leu315=) c.987T>C (p.Leu329=) c.771T>C (p.Leu257=) c.*508T>C (n.*508T>C) c.1191T>C (p.Leu397=) c.1017T>C (p.Leu339=) c.519T>C (p.Leu173=) | |
| 6 | g.45512373T>G | CA450153570 | RUNX2 | c.945T>G (p.Leu315=) c.987T>G (p.Leu329=) c.771T>G (p.Leu257=) c.*508T>G (n.*508T>G) c.1191T>G (p.Leu397=) c.1017T>G (p.Leu339=) c.519T>G (p.Leu173=) | |
| 6 | g.45512374C>A | CA363956084 | RUNX2 | c.946C>A (p.Pro316Thr) c.988C>A (p.Pro330Thr) c.772C>A (p.Pro258Thr) c.*509C>A (n.*509C>A) c.1192C>A (p.Pro398Thr) c.1018C>A (p.Pro340Thr) c.520C>A (p.Pro174Thr) | |
| 6 | g.45512374C= | CA1625477297 | RUNX2 | c.946C= (p.Pro316=) c.988C= (p.Pro330=) c.772C= (p.Pro258=) c.*509C= (n.*509C=) c.1192C= (p.Pro398=) c.1018C= (p.Pro340=) c.520C= (p.Pro174=) | |
| 6 | g.45512374C>G | CA363956085 | RUNX2 | c.946C>G (p.Pro316Ala) c.988C>G (p.Pro330Ala) c.772C>G (p.Pro258Ala) c.*509C>G (n.*509C>G) c.1192C>G (p.Pro398Ala) c.1018C>G (p.Pro340Ala) c.520C>G (p.Pro174Ala) | |
| 6 | g.45512374C>T | CA363956083 | RUNX2 | c.946C>T (p.Pro316Ser) c.988C>T (p.Pro330Ser) c.772C>T (p.Pro258Ser) c.*509C>T (n.*509C>T) c.1192C>T (p.Pro398Ser) c.1018C>T (p.Pro340Ser) c.520C>T (p.Pro174Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512375C>A | CA3836541 | RUNX2 | c.947C>A (p.Pro316His) c.989C>A (p.Pro330His) c.773C>A (p.Pro258His) c.*510C>A (n.*510C>A) c.1193C>A (p.Pro398His) c.1019C>A (p.Pro340His) c.521C>A (p.Pro174His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.45512375C= | CA1625477298 | RUNX2 | c.947C= (p.Pro316=) c.989C= (p.Pro330=) c.773C= (p.Pro258=) c.*510C= (n.*510C=) c.1193C= (p.Pro398=) c.1019C= (p.Pro340=) c.521C= (p.Pro174=) | |
| 6 | g.45512375C>G | CA363956086 | RUNX2 | c.947C>G (p.Pro316Arg) c.989C>G (p.Pro330Arg) c.773C>G (p.Pro258Arg) c.*510C>G (n.*510C>G) c.1193C>G (p.Pro398Arg) c.1019C>G (p.Pro340Arg) c.521C>G (p.Pro174Arg) | |
| 6 | g.45512375C>T | CA363956087 | RUNX2 | c.947C>T (p.Pro316Leu) c.989C>T (p.Pro330Leu) c.773C>T (p.Pro258Leu) c.*510C>T (n.*510C>T) c.1193C>T (p.Pro398Leu) c.1019C>T (p.Pro340Leu) c.521C>T (p.Pro174Leu) | |
| 6 | g.45512376T>A | CA450153587 | RUNX2 | c.948T>A (p.Pro316=) c.990T>A (p.Pro330=) c.774T>A (p.Pro258=) c.*511T>A (n.*511T>A) c.1194T>A (p.Pro398=) c.1020T>A (p.Pro340=) c.522T>A (p.Pro174=) | |
| 6 | g.45512376T>C | CA450153585 | RUNX2 | c.948T>C (p.Pro316=) c.990T>C (p.Pro330=) c.774T>C (p.Pro258=) c.*511T>C (n.*511T>C) c.1194T>C (p.Pro398=) c.1020T>C (p.Pro340=) c.522T>C (p.Pro174=) | |
| 6 | g.45512376T>G | CA450153588 | RUNX2 | c.948T>G (p.Pro316=) c.990T>G (p.Pro330=) c.774T>G (p.Pro258=) c.*511T>G (n.*511T>G) c.1194T>G (p.Pro398=) c.1020T>G (p.Pro340=) c.522T>G (p.Pro174=) | |
| 6 | g.45512377G>A | CA363956088 | RUNX2 | c.949G>A (p.Ala317Thr) c.991G>A (p.Ala331Thr) c.775G>A (p.Ala259Thr) c.*512G>A (n.*512G>A) c.1195G>A (p.Ala399Thr) c.1021G>A (p.Ala341Thr) c.523G>A (p.Ala175Thr) | ClinVar dbSNP |
| 6 | g.45512377G>C | CA363956089 | RUNX2 | c.949G>C (p.Ala317Pro) c.991G>C (p.Ala331Pro) c.775G>C (p.Ala259Pro) c.*512G>C (n.*512G>C) c.1195G>C (p.Ala399Pro) c.1021G>C (p.Ala341Pro) c.523G>C (p.Ala175Pro) | |
| 6 | g.45512377G= | CA1625477299 | RUNX2 | c.949G= (p.Ala317=) c.991G= (p.Ala331=) c.775G= (p.Ala259=) c.*512G= (n.*512G=) c.1195G= (p.Ala399=) c.1021G= (p.Ala341=) c.523G= (p.Ala175=) | |
| 6 | g.45512377G>T | CA363956090 | RUNX2 | c.949G>T (p.Ala317Ser) c.991G>T (p.Ala331Ser) c.775G>T (p.Ala259Ser) c.*512G>T (n.*512G>T) c.1195G>T (p.Ala399Ser) c.1021G>T (p.Ala341Ser) c.523G>T (p.Ala175Ser) | dbSNP gnomAD v4 |
| 6 | g.45512378C>A | CA363956091 | RUNX2 | c.950C>A (p.Ala317Asp) c.992C>A (p.Ala331Asp) c.776C>A (p.Ala259Asp) c.*513C>A (n.*513C>A) c.1196C>A (p.Ala399Asp) c.1022C>A (p.Ala341Asp) c.524C>A (p.Ala175Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.45512378C= | CA1625477300 | RUNX2 | c.950C= (p.Ala317=) c.992C= (p.Ala331=) c.776C= (p.Ala259=) c.*513C= (n.*513C=) c.1196C= (p.Ala399=) c.1022C= (p.Ala341=) c.524C= (p.Ala175=) | |
| 6 | g.45512378C>G | CA3836542 | RUNX2 | c.950C>G (p.Ala317Gly) c.992C>G (p.Ala331Gly) c.776C>G (p.Ala259Gly) c.*513C>G (n.*513C>G) c.1196C>G (p.Ala399Gly) c.1022C>G (p.Ala341Gly) c.524C>G (p.Ala175Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.45512378C>T | CA363956092 | RUNX2 | c.950C>T (p.Ala317Val) c.992C>T (p.Ala331Val) c.776C>T (p.Ala259Val) c.*513C>T (n.*513C>T) c.1196C>T (p.Ala399Val) c.1022C>T (p.Ala341Val) c.524C>T (p.Ala175Val) |