Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42909346C>ACA399654839G6PC1c.490C>A (p.Leu164Met)
c.447-1569C>A (n.447-1569C>A)
c.413C>A (p.Ala138Asp)
17g.42909346C=CA2260696644G6PC1c.490C= (p.Leu164=)
c.447-1569C= (n.447-1569C=)
c.413C= (p.Ala138=)
17g.42909346C>GCA399654841G6PC1c.490C>G (p.Leu164Val)
c.447-1569C>G (n.447-1569C>G)
c.413C>G (p.Ala138Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.42909346C>TCA290788917G6PC1c.490C>T (p.Leu164=)
c.447-1569C>T (n.447-1569C>T)
c.413C>T (p.Ala138Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42909347T>ACA399654844G6PC1c.491T>A (p.Leu164Gln)
c.447-1568T>A (n.447-1568T>A)
c.414T>A (p.Ala138=)
17g.42909347T>CCA399654845G6PC1c.491T>C (p.Leu164Pro)
c.447-1568T>C (n.447-1568T>C)
c.414T>C (p.Ala138=)
17g.42909347T>GCA399654847G6PC1c.491T>G (p.Leu164Arg)
c.447-1568T>G (n.447-1568T>G)
c.414T>G (p.Ala138=)
17g.42909348G>ACA399654849G6PC1c.492G>A (p.Leu164=)
c.447-1567G>A (n.447-1567G>A)
c.415G>A (p.Glu139Lys)
17g.42909348G>CCA399654850G6PC1c.492G>C (p.Leu164=)
c.447-1567G>C (n.447-1567G>C)
c.415G>C (p.Glu139Gln)
17g.42909348G>TCA399654851G6PC1c.492G>T (p.Leu164=)
c.447-1567G>T (n.447-1567G>T)
c.415G>T (p.Glu139Ter)
17g.42909349A>CCA399654853G6PC1c.493A>C (p.Asn165His)
c.447-1566A>C (n.447-1566A>C)
c.416A>C (p.Glu139Ala)
17g.42909349A>GCA399654855G6PC1c.493A>G (p.Asn165Asp)
c.447-1566A>G (n.447-1566A>G)
c.416A>G (p.Glu139Gly)
17g.42909349A>TCA399654856G6PC1c.493A>T (p.Asn165Tyr)
c.447-1566A>T (n.447-1566A>T)
c.416A>T (p.Glu139Val)
17g.42909350A>CCA399654861G6PC1c.494A>C (p.Asn165Thr)
c.447-1565A>C (n.447-1565A>C)
c.417A>C (p.Glu139Asp)
 gnomAD v4
17g.42909350A>GCA399654859G6PC1c.494A>G (p.Asn165Ser)
c.447-1565A>G (n.447-1565A>G)
c.417A>G (p.Glu139=)
17g.42909350A>TCA399654857G6PC1c.494A>T (p.Asn165Ile)
c.447-1565A>T (n.447-1565A>T)
c.417A>T (p.Glu139Asp)
17g.42909351T>ACA399654863G6PC1c.495T>A (p.Asn165Lys)
c.447-1564T>A (n.447-1564T>A)
c.418T>A (p.Cys140Ser)
17g.42909351T>CCA399654864G6PC1c.495T>C (p.Asn165=)
c.447-1564T>C (n.447-1564T>C)
c.418T>C (p.Cys140Arg)
17g.42909351T>GCA399654865G6PC1c.495T>G (p.Asn165Lys)
c.447-1564T>G (n.447-1564T>G)
c.418T>G (p.Cys140Gly)
 gnomAD v4
17g.42909359_42909362dupCA2580613141G6PC1c.503_506dup (p.Arg170ValfsTer?)
c.447-1556_447-1553dup (n.447-1556_447-1553dup)
c.426_429dup (p.Thr144CysfsTer?)
 ClinVar dbSNP
17g.42909359_42909362delCA2638040824G6PC1c.503_506del (p.Leu168HisfsTer?)
c.447-1556_447-1553del (n.447-1556_447-1553del)
c.426_429del (p.Val143ArgfsTer?)
 gnomAD v4
17g.42909352G>ACA399654867G6PC1c.496G>A (p.Val166Ile)
c.447-1563G>A (n.447-1563G>A)
c.419G>A (p.Cys140Tyr)
 gnomAD v4
17g.42909352G>CCA399654869G6PC1c.496G>C (p.Val166Leu)
c.447-1563G>C (n.447-1563G>C)
c.419G>C (p.Cys140Ser)
17g.42909352G=CA2260696645G6PC1c.496G= (p.Val166=)
c.447-1563G= (n.447-1563G=)
c.419G= (p.Cys140=)
17g.42909352G>TCA399654871G6PC1c.496G>T (p.Val166Phe)
c.447-1563G>T (n.447-1563G>T)
c.419G>T (p.Cys140Phe)
 dbSNP gnomAD v3 gnomAD v4
17g.42909353T>ACA399654875G6PC1c.497T>A (p.Val166Asp)
c.447-1562T>A (n.447-1562T>A)
c.420T>A (p.Cys140Ter)
17g.42909353T>CCA399654872G6PC1c.497T>C (p.Val166Ala)
c.447-1562T>C (n.447-1562T>C)
c.420T>C (p.Cys140=)
 ClinVar dbSNP
17g.42909353T>GCA256192G6PC1c.497T>G (p.Val166Gly)
c.447-1562T>G (n.447-1562T>G)
c.420T>G (p.Cys140Trp)
 ClinVar dbSNP
17g.42909353T=CA2260696646G6PC1c.497T= (p.Val166=)
c.447-1562T= (n.447-1562T=)
c.420T= (p.Cys140=)
17g.42909354C>ACA399654876G6PC1c.498C>A (p.Val166=)
c.447-1561C>A (n.447-1561C>A)
c.421C>A (p.Leu141Met)
17g.42909354C=CA2260696647G6PC1c.498C= (p.Val166=)
c.447-1561C= (n.447-1561C=)
c.421C= (p.Leu141=)
17g.42909354C>GCA399654877G6PC1c.498C>G (p.Val166=)
c.447-1561C>G (n.447-1561C>G)
c.421C>G (p.Leu141Val)
17g.42909354C>TCA500103918G6PC1c.498C>T (p.Val166=)
c.447-1561C>T (n.447-1561C>T)
c.421C>T (p.Leu141=)
 dbSNP
17g.42909355T>ACA399654880G6PC1c.499T>A (p.Cys167Ser)
c.447-1560T>A (n.447-1560T>A)
c.422T>A (p.Leu141Gln)
17g.42909355T>CCA399654881G6PC1c.499T>C (p.Cys167Arg)
c.447-1560T>C (n.447-1560T>C)
c.422T>C (p.Leu141Pro)
17g.42909355T>GCA399654883G6PC1c.499T>G (p.Cys167Gly)
c.447-1560T>G (n.447-1560T>G)
c.422T>G (p.Leu141Arg)
17g.42909355dupCA16041844G6PC1c.499dup (p.Cys167LeufsTer?)
c.447-1560dup (n.447-1560dup)
c.422dup (p.Ser142ValfsTer?)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.42909356G>ACA8587595G6PC1c.500G>A (p.Cys167Tyr)
c.447-1559G>A (n.447-1559G>A)
c.423G>A (p.Leu141=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909356G>CCA399654887G6PC1c.500G>C (p.Cys167Ser)
c.447-1559G>C (n.447-1559G>C)
c.423G>C (p.Leu141=)
 dbSNP gnomAD v3 gnomAD v4
17g.42909356G=CA2260696648G6PC1c.500G= (p.Cys167=)
c.447-1559G= (n.447-1559G=)
c.423G= (p.Leu141=)
17g.42909356G>TCA399654885G6PC1c.500G>T (p.Cys167Phe)
c.447-1559G>T (n.447-1559G>T)
c.423G>T (p.Leu141=)
17g.42909357T>ACA399654888G6PC1c.501T>A (p.Cys167Ter)
c.447-1558T>A (n.447-1558T>A)
c.424T>A (p.Ser142Thr)
 gnomAD v4
17g.42909357T>CCA399654890G6PC1c.501T>C (p.Cys167=)
c.447-1558T>C (n.447-1558T>C)
c.424T>C (p.Ser142Pro)
 gnomAD v4
17g.42909357T>GCA399654891G6PC1c.501T>G (p.Cys167Trp)
c.447-1558T>G (n.447-1558T>G)
c.424T>G (p.Ser142Ala)
17g.42909358C>ACA399654893G6PC1c.502C>A (p.Leu168Met)
c.447-1557C>A (n.447-1557C>A)
c.425C>A (p.Ser142Tyr)
17g.42909358C=CA2260696649G6PC1c.502C= (p.Leu168=)
c.447-1557C= (n.447-1557C=)
c.425C= (p.Ser142=)
17g.42909358C>GCA399654895G6PC1c.502C>G (p.Leu168Val)
c.447-1557C>G (n.447-1557C>G)
c.425C>G (p.Ser142Cys)
 gnomAD v4
17g.42909358C>TCA399654896G6PC1c.502C>T (p.Leu168=)
c.447-1557C>T (n.447-1557C>T)
c.425C>T (p.Ser142Phe)
 dbSNP gnomAD v3 gnomAD v4
17g.42909359T>ACA399654898G6PC1c.503T>A (p.Leu168Gln)
c.447-1556T>A (n.447-1556T>A)
c.426T>A (p.Ser142=)
17g.42909359T>CCA399654899G6PC1c.503T>C (p.Leu168Pro)
c.447-1556T>C (n.447-1556T>C)
c.426T>C (p.Ser142=)
17g.42909359T>GCA399654901G6PC1c.503T>G (p.Leu168Arg)
c.447-1556T>G (n.447-1556T>G)
c.426T>G (p.Ser142=)
17g.42909360G>ACA399654902G6PC1c.504G>A (p.Leu168=)
c.447-1555G>A (n.447-1555G>A)
c.427G>A (p.Val143Ile)
17g.42909360G>CCA399654904G6PC1c.504G>C (p.Leu168=)
c.447-1555G>C (n.447-1555G>C)
c.427G>C (p.Val143Leu)
17g.42909360G>TCA399654906G6PC1c.504G>T (p.Leu168=)
c.447-1555G>T (n.447-1555G>T)
c.427G>T (p.Val143Phe)
17g.42909361T>ACA399654910G6PC1c.505T>A (p.Ser169Thr)
c.447-1554T>A (n.447-1554T>A)
c.428T>A (p.Val143Asp)
17g.42909361T>CCA399654908G6PC1c.505T>C (p.Ser169Pro)
c.447-1554T>C (n.447-1554T>C)
c.428T>C (p.Val143Ala)
17g.42909361T>GCA399654907G6PC1c.505T>G (p.Ser169Ala)
c.447-1554T>G (n.447-1554T>G)
c.428T>G (p.Val143Gly)
17g.42909362C>ACA399654912G6PC1c.506C>A (p.Ser169Ter)
c.447-1553C>A (n.447-1553C>A)
c.429C>A (p.Val143=)
17g.42909362C=CA2260696650G6PC1c.506C= (p.Ser169=)
c.447-1553C= (n.447-1553C=)
c.429C= (p.Val143=)
17g.42909362C>GCA399654915G6PC1c.506C>G (p.Ser169Ter)
c.447-1553C>G (n.447-1553C>G)
c.429C>G (p.Val143=)
 ClinVar dbSNP
17g.42909362C>TCA399654914G6PC1c.506C>T (p.Ser169Leu)
c.447-1553C>T (n.447-1553C>T)
c.429C>T (p.Val143=)
17g.42909363A=CA2260696651G6PC1c.507A= (p.Ser169=)
c.447-1552A= (n.447-1552A=)
c.430A= (p.Thr144=)
17g.42909363A>CCA399654916G6PC1c.507A>C (p.Ser169=)
c.447-1552A>C (n.447-1552A>C)
c.430A>C (p.Thr144Pro)
17g.42909363A>GCA399654917G6PC1c.507A>G (p.Ser169=)
c.447-1552A>G (n.447-1552A>G)
c.430A>G (p.Thr144Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.42909363A>TCA399654918G6PC1c.507A>T (p.Ser169=)
c.447-1552A>T (n.447-1552A>T)
c.430A>T (p.Thr144Ser)
17g.42909364C>ACA399654919G6PC1c.508C>A (p.Arg170=)
c.447-1551C>A (n.447-1551C>A)
c.431C>A (p.Thr144Lys)
17g.42909364C=CA2260696652G6PC1c.508C= (p.Arg170=)
c.447-1551C= (n.447-1551C=)
c.431C= (p.Thr144=)
17g.42909364C>GCA399654920G6PC1c.508C>G (p.Arg170Gly)
c.447-1551C>G (n.447-1551C>G)
c.431C>G (p.Thr144Arg)
17g.42909364C>TCA8587596G6PC1c.508C>T (p.Arg170Ter)
c.447-1551C>T (n.447-1551C>T)
c.431C>T (p.Thr144Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909365G>ACA8587597G6PC1c.509G>A (p.Arg170Gln)
c.447-1550G>A (n.447-1550G>A)
c.432G>A (p.Thr144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42909365G>CCA399654921G6PC1c.509G>C (p.Arg170Pro)
c.447-1550G>C (n.447-1550G>C)
c.432G>C (p.Thr144=)
17g.42909365G=CA2260696653G6PC1c.509G= (p.Arg170=)
c.447-1550G= (n.447-1550G=)
c.432G= (p.Thr144=)
17g.42909365G>TCA399654922G6PC1c.509G>T (p.Arg170Leu)
c.447-1550G>T (n.447-1550G>T)
c.432G>T (p.Thr144=)
17g.42909365_42909366delinsGACA2260696654G6PC1c.509_510delinsGA (p.Arg170=)
c.447-1550_447-1549delinsGA (n.447-1550_447-1549delinsGA)
c.432_433delinsGA (p.Thr144=)
17g.42909366A>CCA399654923G6PC1c.510A>C (p.Arg170=)
c.447-1549A>C (n.447-1549A>C)
c.433A>C (p.Asn145His)
17g.42909366A>GCA399654924G6PC1c.510A>G (p.Arg170=)
c.447-1549A>G (n.447-1549A>G)
c.433A>G (p.Asn145Asp)
17g.42909366A>TCA399654925G6PC1c.510A>T (p.Arg170=)
c.447-1549A>T (n.447-1549A>T)
c.433A>T (p.Asn145Tyr)
17g.42909367delCA915950017G6PC1c.511del (p.Ile171SerfsTer?)
c.447-1548del (n.447-1548del)
c.434del (p.Asn145IlefsTer?)
 ClinVar dbSNP
17g.42909367A>CCA399654928G6PC1c.511A>C (p.Ile171Leu)
c.447-1548A>C (n.447-1548A>C)
c.434A>C (p.Asn145Thr)
17g.42909367A>GCA399654926G6PC1c.511A>G (p.Ile171Val)
c.447-1548A>G (n.447-1548A>G)
c.434A>G (p.Asn145Ser)
17g.42909367A>TCA399654927G6PC1c.511A>T (p.Ile171Phe)
c.447-1548A>T (n.447-1548A>T)
c.434A>T (p.Asn145Ile)
17g.42909368T>ACA399654929G6PC1c.512T>A (p.Ile171Asn)
c.447-1547T>A (n.447-1547T>A)
c.435T>A (p.Asn145Lys)
 gnomAD v4
17g.42909368T>CCA399654930G6PC1c.512T>C (p.Ile171Thr)
c.447-1547T>C (n.447-1547T>C)
c.435T>C (p.Asn145=)
17g.42909368T>GCA399654931G6PC1c.512T>G (p.Ile171Ser)
c.447-1547T>G (n.447-1547T>G)
c.435T>G (p.Asn145Lys)
17g.42909369C>ACA399654932G6PC1c.513C>A (p.Ile171=)
c.447-1546C>A (n.447-1546C>A)
c.436C>A (p.Leu146Ile)
17g.42909369C=CA2260696655G6PC1c.513C= (p.Ile171=)
c.447-1546C= (n.447-1546C=)
c.436C= (p.Leu146=)
17g.42909369C>GCA399654933G6PC1c.513C>G (p.Ile171Met)
c.447-1546C>G (n.447-1546C>G)
c.436C>G (p.Leu146Val)
 dbSNP gnomAD v2 gnomAD v4
17g.42909369C>TCA500103920G6PC1c.513C>T (p.Ile171=)
c.447-1546C>T (n.447-1546C>T)
c.436C>T (p.Leu146=)
17g.42909370T>ACA399654934G6PC1c.514T>A (p.Tyr172Asn)
c.447-1545T>A (n.447-1545T>A)
c.437T>A (p.Leu146Gln)
17g.42909370T>CCA399654935G6PC1c.514T>C (p.Tyr172His)
c.447-1545T>C (n.447-1545T>C)
c.437T>C (p.Leu146Pro)
17g.42909370T>GCA399654936G6PC1c.514T>G (p.Tyr172Asp)
c.447-1545T>G (n.447-1545T>G)
c.437T>G (p.Leu146Arg)
17g.42909371A>CCA399654937G6PC1c.515A>C (p.Tyr172Ser)
c.447-1544A>C (n.447-1544A>C)
c.438A>C (p.Leu146=)
17g.42909371A>GCA399654938G6PC1c.515A>G (p.Tyr172Cys)
c.447-1544A>G (n.447-1544A>G)
c.438A>G (p.Leu146=)
17g.42909371A>TCA399654939G6PC1c.515A>T (p.Tyr172Phe)
c.447-1544A>T (n.447-1544A>T)
c.438A>T (p.Leu146=)
17g.42909372C>ACA399654942G6PC1c.516C>A (p.Tyr172Ter)
c.447-1543C>A (n.447-1543C>A)
c.439C>A (p.Pro147Thr)
 ClinVar dbSNP
17g.42909372C=CA2260696656G6PC1c.516C= (p.Tyr172=)
c.447-1543C= (n.447-1543C=)
c.439C= (p.Pro147=)
17g.42909372C>GCA399654941G6PC1c.516C>G (p.Tyr172Ter)
c.447-1543C>G (n.447-1543C>G)
c.439C>G (p.Pro147Ala)
17g.42909372C>TCA399654940G6PC1c.516C>T (p.Tyr172=)
c.447-1543C>T (n.447-1543C>T)
c.439C>T (p.Pro147Ser)
17g.42909373C>ACA399654945G6PC1c.517C>A (p.Leu173Ile)
c.447-1542C>A (n.447-1542C>A)
c.440C>A (p.Pro147His)
17g.42909373C=CA2260696657G6PC1c.517C= (p.Leu173=)
c.447-1542C= (n.447-1542C=)
c.440C= (p.Pro147=)
17g.42909373C>GCA399654943G6PC1c.517C>G (p.Leu173Val)
c.447-1542C>G (n.447-1542C>G)
c.440C>G (p.Pro147Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.42909373C>TCA399654944G6PC1c.517C>T (p.Leu173Phe)
c.447-1542C>T (n.447-1542C>T)
c.440C>T (p.Pro147Leu)
17g.42909374T>ACA399654946G6PC1c.518T>A (p.Leu173His)
c.447-1541T>A (n.447-1541T>A)
c.441T>A (p.Pro147=)
17g.42909374T>CCA8587598G6PC1c.518T>C (p.Leu173Pro)
c.447-1541T>C (n.447-1541T>C)
c.441T>C (p.Pro147=)
 ClinVar dbSNP ExAC gnomAD v2
17g.42909374T>GCA399654947G6PC1c.518T>G (p.Leu173Arg)
c.447-1541T>G (n.447-1541T>G)
c.441T>G (p.Pro147=)
17g.42909374T=CA2260696658G6PC1c.518T= (p.Leu173=)
c.447-1541T= (n.447-1541T=)
c.441T= (p.Pro147=)
17g.42909375T>ACA399654950G6PC1c.519T>A (p.Leu173=)
c.447-1540T>A (n.447-1540T>A)
c.442T>A (p.Cys148Ser)
17g.42909375T>CCA399654949G6PC1c.519T>C (p.Leu173=)
c.447-1540T>C (n.447-1540T>C)
c.442T>C (p.Cys148Arg)
17g.42909375T>GCA399654948G6PC1c.519T>G (p.Leu173=)
c.447-1540T>G (n.447-1540T>G)
c.442T>G (p.Cys148Gly)
17g.42909376G>ACA399654951G6PC1c.520G>A (p.Ala174Thr)
c.447-1539G>A (n.447-1539G>A)
c.443G>A (p.Cys148Tyr)
17g.42909376G>CCA399654952G6PC1c.520G>C (p.Ala174Pro)
c.447-1539G>C (n.447-1539G>C)
c.443G>C (p.Cys148Ser)
17g.42909376G>TCA399654953G6PC1c.520G>T (p.Ala174Ser)
c.447-1539G>T (n.447-1539G>T)
c.443G>T (p.Cys148Phe)
17g.42909377C>ACA399654954G6PC1c.521C>A (p.Ala174Asp)
c.447-1538C>A (n.447-1538C>A)
c.444C>A (p.Cys148Ter)
17g.42909377C>GCA399654955G6PC1c.521C>G (p.Ala174Gly)
c.447-1538C>G (n.447-1538C>G)
c.444C>G (p.Cys148Trp)
17g.42909377C>TCA399654956G6PC1c.521C>T (p.Ala174Val)
c.447-1538C>T (n.447-1538C>T)
c.444C>T (p.Cys148=)
 gnomAD v4
17g.42909378T>ACA399654957G6PC1c.522T>A (p.Ala174=)
c.447-1537T>A (n.447-1537T>A)
c.445T>A (p.Cys149Ser)
17g.42909378T>CCA399654959G6PC1c.522T>C (p.Ala174=)
c.447-1537T>C (n.447-1537T>C)
c.445T>C (p.Cys149Arg)
17g.42909378T>GCA399654958G6PC1c.522T>G (p.Ala174=)
c.447-1537T>G (n.447-1537T>G)
c.445T>G (p.Cys149Gly)
 gnomAD v4
17g.42909379G>ACA399654960G6PC1c.523G>A (p.Ala175Thr)
c.447-1536G>A (n.447-1536G>A)
c.446G>A (p.Cys149Tyr)
17g.42909379G>CCA399654961G6PC1c.523G>C (p.Ala175Pro)
c.447-1536G>C (n.447-1536G>C)
c.446G>C (p.Cys149Ser)
17g.42909379G>TCA399654962G6PC1c.523G>T (p.Ala175Ser)
c.447-1536G>T (n.447-1536G>T)
c.446G>T (p.Cys149Phe)
17g.42909380C>ACA399654963G6PC1c.524C>A (p.Ala175Asp)
c.447-1535C>A (n.447-1535C>A)
c.447C>A (p.Cys149Ter)
17g.42909380C>GCA399654964G6PC1c.524C>G (p.Ala175Gly)
c.447-1535C>G (n.447-1535C>G)
c.447C>G (p.Cys149Trp)
17g.42909380C>TCA399654965G6PC1c.524C>T (p.Ala175Val)
c.447-1535C>T (n.447-1535C>T)
c.447C>T (p.Cys149=)
17g.42909381T>ACA399654966G6PC1c.525T>A (p.Ala175=)
c.447-1534T>A (n.447-1534T>A)
c.448T>A (p.Ser150Thr)
17g.42909381T>CCA399654967G6PC1c.525T>C (p.Ala175=)
c.447-1534T>C (n.447-1534T>C)
c.448T>C (p.Ser150Pro)
 dbSNP
17g.42909381T>GCA399654968G6PC1c.525T>G (p.Ala175=)
c.447-1534T>G (n.447-1534T>G)
c.448T>G (p.Ser150Ala)
17g.42909382C>ACA399654969G6PC1c.526C>A (p.His176Asn)
c.447-1533C>A (n.447-1533C>A)
c.449C>A (p.Ser150Ter)
17g.42909382C=CA2260696659G6PC1c.526C= (p.His176=)
c.447-1533C= (n.447-1533C=)
c.449C= (p.Ser150=)
17g.42909382C>GCA399654970G6PC1c.526C>G (p.His176Asp)
c.447-1533C>G (n.447-1533C>G)
c.449C>G (p.Ser150Ter)
17g.42909382C>TCA399654971G6PC1c.526C>T (p.His176Tyr)
c.447-1533C>T (n.447-1533C>T)
c.449C>T (p.Ser150Leu)
 ClinVar dbSNP
17g.42909383A>CCA399654974G6PC1c.527A>C (p.His176Pro)
c.447-1532A>C (n.447-1532A>C)
c.450A>C (p.Ser150=)
17g.42909383A>GCA399654973G6PC1c.527A>G (p.His176Arg)
c.447-1532A>G (n.447-1532A>G)
c.450A>G (p.Ser150=)
17g.42909383A>TCA399654972G6PC1c.527A>T (p.His176Leu)
c.447-1532A>T (n.447-1532A>T)
c.450A>T (p.Ser150=)
 dbSNP
17g.42909384T>ACA399654975G6PC1c.528T>A (p.His176Gln)
c.447-1531T>A (n.447-1531T>A)
c.451T>A (p.Phe151Ile)
17g.42909384T>CCA399654976G6PC1c.528T>C (p.His176=)
c.447-1531T>C (n.447-1531T>C)
c.451T>C (p.Phe151Leu)
 gnomAD v4
17g.42909384T>GCA399654977G6PC1c.528T>G (p.His176Gln)
c.447-1531T>G (n.447-1531T>G)
c.451T>G (p.Phe151Val)
17g.42909385T>ACA399654978G6PC1c.529T>A (p.Phe177Ile)
c.447-1530T>A (n.447-1530T>A)
c.452T>A (p.Phe151Tyr)
 dbSNP
17g.42909385T>CCA399654979G6PC1c.529T>C (p.Phe177Leu)
c.447-1530T>C (n.447-1530T>C)
c.452T>C (p.Phe151Ser)
17g.42909385T>GCA399654980G6PC1c.529T>G (p.Phe177Val)
c.447-1530T>G (n.447-1530T>G)
c.452T>G (p.Phe151Cys)
17g.42909386T>ACA399654983G6PC1c.530T>A (p.Phe177Tyr)
c.447-1529T>A (n.447-1529T>A)
c.453T>A (p.Phe151Leu)
 dbSNP
17g.42909386T>CCA399654982G6PC1c.530T>C (p.Phe177Ser)
c.447-1529T>C (n.447-1529T>C)
c.453T>C (p.Phe151=)
 dbSNP gnomAD v2 gnomAD v4
17g.42909386T>GCA399654981G6PC1c.530T>G (p.Phe177Cys)
c.447-1529T>G (n.447-1529T>G)
c.453T>G (p.Phe151Leu)
17g.42909386T=CA2260696660G6PC1c.530T= (p.Phe177=)
c.447-1529T= (n.447-1529T=)
c.453T= (p.Phe151=)
17g.42909387T>ACA399654984G6PC1c.531T>A (p.Phe177Leu)
c.447-1528T>A (n.447-1528T>A)
c.454T>A (p.Ser152Thr)
 dbSNP
17g.42909387T>CCA399654985G6PC1c.531T>C (p.Phe177=)
c.447-1528T>C (n.447-1528T>C)
c.454T>C (p.Ser152Pro)
17g.42909387T>GCA399654986G6PC1c.531T>G (p.Phe177Leu)
c.447-1528T>G (n.447-1528T>G)
c.454T>G (p.Ser152Ala)
17g.42909388C>ACA399654987G6PC1c.532C>A (p.Pro178Thr)
c.447-1527C>A (n.447-1527C>A)
c.455C>A (p.Ser152Tyr)
17g.42909388C=CA2260696661G6PC1c.532C= (p.Pro178=)
c.447-1527C= (n.447-1527C=)
c.455C= (p.Ser152=)
17g.42909388C>GCA8587599G6PC1c.532C>G (p.Pro178Ala)
c.447-1527C>G (n.447-1527C>G)
c.455C>G (p.Ser152Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909388C>TCA399654988G6PC1c.532C>T (p.Pro178Ser)
c.447-1527C>T (n.447-1527C>T)
c.455C>T (p.Ser152Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42909389C>ACA399654989G6PC1c.533C>A (p.Pro178His)
c.447-1526C>A (n.447-1526C>A)
c.456C>A (p.Ser152=)
17g.42909389C=CA2260696662G6PC1c.533C= (p.Pro178=)
c.447-1526C= (n.447-1526C=)
c.456C= (p.Ser152=)
17g.42909389C>GCA399654990G6PC1c.533C>G (p.Pro178Arg)
c.447-1526C>G (n.447-1526C>G)
c.456C>G (p.Ser152=)
17g.42909389C>TCA8587600G6PC1c.533C>T (p.Pro178Leu)
c.447-1526C>T (n.447-1526C>T)
c.456C>T (p.Ser152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909390T>ACA8587602G6PC1c.534T>A (p.Pro178=)
c.447-1525T>A (n.447-1525T>A)
c.457T>A (p.Ser153Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909390T>CCA8587601G6PC1c.534T>C (p.Pro178=)
c.447-1525T>C (n.447-1525T>C)
c.457T>C (p.Ser153Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909390T>GCA399654991G6PC1c.534T>G (p.Pro178=)
c.447-1525T>G (n.447-1525T>G)
c.457T>G (p.Ser153Ala)
17g.42909390T=CA2260696663G6PC1c.534T= (p.Pro178=)
c.447-1525T= (n.447-1525T=)
c.457T= (p.Ser153=)
17g.42909391C>ACA399654992G6PC1c.535C>A (p.His179Asn)
c.447-1524C>A (n.447-1524C>A)
c.458C>A (p.Ser153Ter)
17g.42909391C>GCA399654993G6PC1c.535C>G (p.His179Asp)
c.447-1524C>G (n.447-1524C>G)
c.458C>G (p.Ser153Ter)
 dbSNP
17g.42909391C>TCA399654994G6PC1c.535C>T (p.His179Tyr)
c.447-1524C>T (n.447-1524C>T)
c.458C>T (p.Ser153Leu)
 gnomAD v4
17g.42909392A>CCA399654995G6PC1c.536A>C (p.His179Pro)
c.447-1523A>C (n.447-1523A>C)
c.459A>C (p.Ser153=)
 dbSNP
17g.42909392A>GCA399654996G6PC1c.536A>G (p.His179Arg)
c.447-1523A>G (n.447-1523A>G)
c.459A>G (p.Ser153=)
17g.42909392A>TCA399654997G6PC1c.536A>T (p.His179Leu)
c.447-1523A>T (n.447-1523A>T)
c.459A>T (p.Ser153=)
17g.42909393delCA2695226078G6PC1c.537del (p.Gln180LysfsTer?)
c.447-1522del (n.447-1522del)
c.460del (p.Ser154GlnfsTer?)
17g.42909393T>ACA399654998G6PC1c.537T>A (p.His179Gln)
c.447-1522T>A (n.447-1522T>A)
c.460T>A (p.Ser154Thr)
 gnomAD v4
17g.42909393T>CCA399654999G6PC1c.537T>C (p.His179=)
c.447-1522T>C (n.447-1522T>C)
c.460T>C (p.Ser154Pro)
17g.42909393T>GCA399655000G6PC1c.537T>G (p.His179Gln)
c.447-1522T>G (n.447-1522T>G)
c.460T>G (p.Ser154Ala)
17g.42909394C>ACA399655001G6PC1c.538C>A (p.Gln180Lys)
c.447-1521C>A (n.447-1521C>A)
c.461C>A (p.Ser154Ter)
17g.42909394C=CA2260696664G6PC1c.538C= (p.Gln180=)
c.447-1521C= (n.447-1521C=)
c.461C= (p.Ser154=)
17g.42909394C>GCA399655003G6PC1c.538C>G (p.Gln180Glu)
c.447-1521C>G (n.447-1521C>G)
c.461C>G (p.Ser154Ter)
17g.42909394C>TCA399655002G6PC1c.538C>T (p.Gln180Ter)
c.447-1521C>T (n.447-1521C>T)
c.461C>T (p.Ser154Leu)
 ClinVar dbSNP
17g.42909395A=CA2260696665G6PC1c.539A= (p.Gln180=)
c.447-1520A= (n.447-1520A=)
c.462A= (p.Ser154=)
17g.42909395A>CCA399655004G6PC1c.539A>C (p.Gln180Pro)
c.447-1520A>C (n.447-1520A>C)
c.462A>C (p.Ser154=)
17g.42909395A>GCA290788967G6PC1c.539A>G (p.Gln180Arg)
c.447-1520A>G (n.447-1520A>G)
c.462A>G (p.Ser154=)
 dbSNP
17g.42909395A>TCA399655005G6PC1c.539A>T (p.Gln180Leu)
c.447-1520A>T (n.447-1520A>T)
c.462A>T (p.Ser154=)
17g.42909396A=CA2260696666G6PC1c.540A= (p.Gln180=)
c.447-1519A= (n.447-1519A=)
c.463A= (p.Ser155=)
17g.42909396A>CCA399655006G6PC1c.540A>C (p.Gln180His)
c.447-1519A>C (n.447-1519A>C)
c.463A>C (p.Ser155Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.42909396A>GCA399655007G6PC1c.540A>G (p.Gln180=)
c.447-1519A>G (n.447-1519A>G)
c.463A>G (p.Ser155Gly)
17g.42909396A>TCA399655008G6PC1c.540A>T (p.Gln180His)
c.447-1519A>T (n.447-1519A>T)
c.463A>T (p.Ser155Cys)
17g.42909397G>ACA399655009G6PC1c.541G>A (p.Val181Ile)
c.447-1518G>A (n.447-1518G>A)
c.464G>A (p.Ser155Asn)
17g.42909397G>CCA399655010G6PC1c.541G>C (p.Val181Leu)
c.447-1518G>C (n.447-1518G>C)
c.464G>C (p.Ser155Thr)
17g.42909397G>TCA399655011G6PC1c.541G>T (p.Val181Phe)
c.447-1518G>T (n.447-1518G>T)
c.464G>T (p.Ser155Ile)
17g.42909398T>ACA399655012G6PC1c.542T>A (p.Val181Asp)
c.447-1517T>A (n.447-1517T>A)
c.465T>A (p.Ser155Arg)
17g.42909398T>CCA399655013G6PC1c.542T>C (p.Val181Ala)
c.447-1517T>C (n.447-1517T>C)
c.465T>C (p.Ser155=)
17g.42909398T>GCA399655014G6PC1c.542T>G (p.Val181Gly)
c.447-1517T>G (n.447-1517T>G)
c.465T>G (p.Ser155Arg)
17g.42909399T>ACA399655017G6PC1c.543T>A (p.Val181=)
c.447-1516T>A (n.447-1516T>A)
c.466T>A (p.Cys156Ser)
17g.42909399T>CCA399655016G6PC1c.543T>C (p.Val181=)
c.447-1516T>C (n.447-1516T>C)
c.466T>C (p.Cys156Arg)
17g.42909399T>GCA399655015G6PC1c.543T>G (p.Val181=)
c.447-1516T>G (n.447-1516T>G)
c.466T>G (p.Cys156Gly)
17g.42909400G>ACA399655018G6PC1c.544G>A (p.Val182Ile)
c.447-1515G>A (n.447-1515G>A)
c.467G>A (p.Cys156Tyr)
17g.42909400G>CCA399655019G6PC1c.544G>C (p.Val182Leu)
c.447-1515G>C (n.447-1515G>C)
c.467G>C (p.Cys156Ser)
17g.42909400G>TCA399655020G6PC1c.544G>T (p.Val182Phe)
c.447-1515G>T (n.447-1515G>T)
c.467G>T (p.Cys156Phe)
17g.42909401T>ACA399655021G6PC1c.545T>A (p.Val182Asp)
c.447-1514T>A (n.447-1514T>A)
c.468T>A (p.Cys156Ter)
17g.42909401T>CCA399655022G6PC1c.545T>C (p.Val182Ala)
c.447-1514T>C (n.447-1514T>C)
c.468T>C (p.Cys156=)
17g.42909401T>GCA399655023G6PC1c.545T>G (p.Val182Gly)
c.447-1514T>G (n.447-1514T>G)
c.468T>G (p.Cys156Trp)
17g.42909402T>ACA399655024G6PC1c.546T>A (p.Val182=)
c.447-1513T>A (n.447-1513T>A)
c.469T>A (p.Cys157Ser)
17g.42909402T>CCA399655025G6PC1c.546T>C (p.Val182=)
c.447-1513T>C (n.447-1513T>C)
c.469T>C (p.Cys157Arg)
 gnomAD v4
17g.42909402T>GCA399655026G6PC1c.546T>G (p.Val182=)
c.447-1513T>G (n.447-1513T>G)
c.469T>G (p.Cys157Gly)
17g.42909403G>ACA8587603G6PC1c.547G>A (p.Ala183Thr)
c.447-1512G>A (n.447-1512G>A)
c.470G>A (p.Cys157Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909403G>CCA399655027G6PC1c.547G>C (p.Ala183Pro)
c.447-1512G>C (n.447-1512G>C)
c.470G>C (p.Cys157Ser)
17g.42909403G=CA2260696667G6PC1c.547G= (p.Ala183=)
c.447-1512G= (n.447-1512G=)
c.470G= (p.Cys157=)
17g.42909403G>TCA399655028G6PC1c.547G>T (p.Ala183Ser)
c.447-1512G>T (n.447-1512G>T)
c.470G>T (p.Cys157Phe)
17g.42909404delCA2638040825G6PC1c.548del (p.Ala183ValfsTer?)
c.447-1511del (n.447-1511del)
c.471del (p.Trp158GlyfsTer?)
 gnomAD v4
17g.42909404C>ACA399655029G6PC1c.548C>A (p.Ala183Asp)
c.447-1511C>A (n.447-1511C>A)
c.471C>A (p.Cys157Ter)
17g.42909404C>GCA399655031G6PC1c.548C>G (p.Ala183Gly)
c.447-1511C>G (n.447-1511C>G)
c.471C>G (p.Cys157Trp)
 gnomAD v4
17g.42909404C>TCA399655030G6PC1c.548C>T (p.Ala183Val)
c.447-1511C>T (n.447-1511C>T)
c.471C>T (p.Cys157=)
17g.42909405T>ACA399655032G6PC1c.549T>A (p.Ala183=)
c.447-1510T>A (n.447-1510T>A)
c.472T>A (p.Trp158Arg)
17g.42909405T>CCA8587604G6PC1c.549T>C (p.Ala183=)
c.447-1510T>C (n.447-1510T>C)
c.472T>C (p.Trp158Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909405T>GCA8587605G6PC1c.549T>G (p.Ala183=)
c.447-1510T>G (n.447-1510T>G)
c.472T>G (p.Trp158Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909405T=CA2260696668G6PC1c.549T= (p.Ala183=)
c.447-1510T= (n.447-1510T=)
c.472T= (p.Trp158=)
17g.42909405dupCA2573154244G6PC1c.549dup (p.Gly184TrpfsTer20)
c.447-1510dup (n.447-1510dup)
c.472dup (p.Trp158LeufsTer?)
 ClinVar dbSNP
17g.42909406G>ACA399655033G6PC1c.550G>A (p.Gly184Arg)
c.447-1509G>A (n.447-1509G>A)
c.473G>A (p.Trp158Ter)
17g.42909406G>CCA399655035G6PC1c.550G>C (p.Gly184Arg)
c.447-1509G>C (n.447-1509G>C)
c.473G>C (p.Trp158Ser)
17g.42909406G=CA2260696669G6PC1c.550G= (p.Gly184=)
c.447-1509G= (n.447-1509G=)
c.473G= (p.Trp158=)
17g.42909406G>TCA399655034G6PC1c.550G>T (p.Gly184Ter)
c.447-1509G>T (n.447-1509G>T)
c.473G>T (p.Trp158Leu)
 ClinVar dbSNP
17g.42909407G>ACA256188G6PC1c.551G>A (p.Gly184Glu)
c.447-1508G>A (n.447-1508G>A)
c.474G>A (p.Trp158Ter)
 ClinVar dbSNP
17g.42909407G>CCA399655036G6PC1c.551G>C (p.Gly184Ala)
c.447-1508G>C (n.447-1508G>C)
c.474G>C (p.Trp158Cys)
17g.42909407G=CA2260696670G6PC1c.551G= (p.Gly184=)
c.447-1508G= (n.447-1508G=)
c.474G= (p.Trp158=)
17g.42909407G>TCA16043527G6PC1c.551G>T (p.Gly184Val)
c.447-1508G>T (n.447-1508G>T)
c.474G>T (p.Trp158Cys)
 ClinVar dbSNP
17g.42909408A>CCA399655037G6PC1c.552A>C (p.Gly184=)
c.447-1507A>C (n.447-1507A>C)
c.475A>C (p.Ser159Arg)
17g.42909408A>GCA399655038G6PC1c.552A>G (p.Gly184=)
c.447-1507A>G (n.447-1507A>G)
c.475A>G (p.Ser159Gly)
17g.42909408A>TCA399655039G6PC1c.552A>T (p.Gly184=)
c.447-1507A>T (n.447-1507A>T)
c.475A>T (p.Ser159Cys)
17g.42909409G>ACA8587606G6PC1c.553G>A (p.Val185Ile)
c.447-1506G>A (n.447-1506G>A)
c.476G>A (p.Ser159Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909409G>CCA399655040G6PC1c.553G>C (p.Val185Leu)
c.447-1506G>C (n.447-1506G>C)
c.476G>C (p.Ser159Thr)
17g.42909409G=CA2260696671G6PC1c.553G= (p.Val185=)
c.447-1506G= (n.447-1506G=)
c.476G= (p.Ser159=)
17g.42909409G>TCA399655041G6PC1c.553G>T (p.Val185Phe)
c.447-1506G>T (n.447-1506G>T)
c.476G>T (p.Ser159Ile)
17g.42909410T>ACA399655042G6PC1c.554T>A (p.Val185Asp)
c.447-1505T>A (n.447-1505T>A)
c.477T>A (p.Ser159Arg)
17g.42909410T>CCA399655043G6PC1c.554T>C (p.Val185Ala)
c.447-1505T>C (n.447-1505T>C)
c.477T>C (p.Ser159=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42909410T>GCA399655044G6PC1c.554T>G (p.Val185Gly)
c.447-1505T>G (n.447-1505T>G)
c.477T>G (p.Ser159Arg)
17g.42909410T=CA2260696672G6PC1c.554T= (p.Val185=)
c.447-1505T= (n.447-1505T=)
c.477T= (p.Ser159=)
17g.42909411C>ACA399655045G6PC1c.555C>A (p.Val185=)
c.447-1504C>A (n.447-1504C>A)
c.478C>A (p.Pro160Thr)
17g.42909411C>GCA399655046G6PC1c.555C>G (p.Val185=)
c.447-1504C>G (n.447-1504C>G)
c.478C>G (p.Pro160Ala)
17g.42909411C>TCA399655047G6PC1c.555C>T (p.Val185=)
c.447-1504C>T (n.447-1504C>T)
c.478C>T (p.Pro160Ser)
17g.42909412C>ACA399655048G6PC1c.556C>A (p.Leu186Met)
c.447-1503C>A (n.447-1503C>A)
c.479C>A (p.Pro160His)
17g.42909412C>GCA399655050G6PC1c.556C>G (p.Leu186Val)
c.447-1503C>G (n.447-1503C>G)
c.479C>G (p.Pro160Arg)
17g.42909412C>TCA399655049G6PC1c.556C>T (p.Leu186=)
c.447-1503C>T (n.447-1503C>T)
c.479C>T (p.Pro160Leu)
 COSMIC
17g.42909413T>ACA399655051G6PC1c.557T>A (p.Leu186Gln)
c.447-1502T>A (n.447-1502T>A)
c.480T>A (p.Pro160=)
17g.42909413T>CCA399655052G6PC1c.557T>C (p.Leu186Pro)
c.447-1502T>C (n.447-1502T>C)
c.480T>C (p.Pro160=)
17g.42909413T>GCA399655053G6PC1c.557T>G (p.Leu186Arg)
c.447-1502T>G (n.447-1502T>G)
c.480T>G (p.Pro160=)
17g.42909414_42909415delCA2576280994G6PC1c.558_559del (p.Ser187ArgfsTer16)
c.447-1501_447-1500del (n.447-1501_447-1500del)
c.481_482del (p.Val161GlnfsTer?)
17g.42909414G>ACA8587608G6PC1c.558G>A (p.Leu186=)
c.447-1501G>A (n.447-1501G>A)
c.481G>A (p.Val161Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909414G>CCA399655054G6PC1c.558G>C (p.Leu186=)
c.447-1501G>C (n.447-1501G>C)
c.481G>C (p.Val161Leu)
17g.42909414G=CA2260696673G6PC1c.558G= (p.Leu186=)
c.447-1501G= (n.447-1501G=)
c.481G= (p.Val161=)
17g.42909414G>TCA8587607G6PC1c.558G>T (p.Leu186=)
c.447-1501G>T (n.447-1501G>T)
c.481G>T (p.Val161Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909415T>ACA399655055G6PC1c.559T>A (p.Ser187Thr)
c.447-1500T>A (n.447-1500T>A)
c.482T>A (p.Val161Asp)
17g.42909415T>CCA290789000G6PC1c.559T>C (p.Ser187Pro)
c.447-1500T>C (n.447-1500T>C)
c.482T>C (p.Val161Ala)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.42909415T>GCA399655056G6PC1c.559T>G (p.Ser187Ala)
c.447-1500T>G (n.447-1500T>G)
c.482T>G (p.Val161Gly)
17g.42909415T=CA2260696674G6PC1c.559T= (p.Ser187=)
c.447-1500T= (n.447-1500T=)
c.482T= (p.Val161=)
17g.42909416C>ACA399655058G6PC1c.560C>A (p.Ser187Ter)
c.447-1499C>A (n.447-1499C>A)
c.483C>A (p.Val161=)
 dbSNP gnomAD v3 gnomAD v4
17g.42909416C=CA2260696675G6PC1c.560C= (p.Ser187=)
c.447-1499C= (n.447-1499C=)
c.483C= (p.Val161=)
17g.42909416C>GCA399655059G6PC1c.560C>G (p.Ser187Ter)
c.447-1499C>G (n.447-1499C>G)
c.483C>G (p.Val161=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42909416C>TCA399655057G6PC1c.560C>T (p.Ser187Leu)
c.447-1499C>T (n.447-1499C>T)
c.483C>T (p.Val161=)
 COSMIC
17g.42909417A=CA2260696676G6PC1c.561A= (p.Ser187=)
c.447-1498A= (n.447-1498A=)
c.484A= (p.Arg162=)
17g.42909417A>CCA290789001G6PC1c.561A>C (p.Ser187=)
c.447-1498A>C (n.447-1498A>C)
c.484A>C (p.Arg162=)
 dbSNP
17g.42909417A>GCA399655060G6PC1c.561A>G (p.Ser187=)
c.447-1498A>G (n.447-1498A>G)
c.484A>G (p.Arg162Gly)
 gnomAD v4 COSMIC
17g.42909417A>TCA399655061G6PC1c.561A>T (p.Ser187=)
c.447-1498A>T (n.447-1498A>T)
c.484A>T (p.Arg162Trp)
 gnomAD v4
17g.42909418G>ACA321440G6PC1c.562G>A (p.Gly188Ser)
c.447-1497G>A (n.447-1497G>A)
c.485G>A (p.Arg162Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909418G>CCA256190G6PC1c.562G>C (p.Gly188Arg)
c.447-1497G>C (n.447-1497G>C)
c.485G>C (p.Arg162Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909418G=CA2260696677G6PC1c.562G= (p.Gly188=)
c.447-1497G= (n.447-1497G=)
c.485G= (p.Arg162=)
17g.42909418G>TCA399655062G6PC1c.562G>T (p.Gly188Cys)
c.447-1497G>T (n.447-1497G>T)
c.485G>T (p.Arg162Met)
17g.42909419G>ACA399655063G6PC1c.562+1G>A (n.562+1G>A)
c.447-1496G>A (n.447-1496G>A)
c.485+1G>A (n.485+1G>A)
17g.42909419G>CCA399655064G6PC1c.562+1G>C (n.562+1G>C)
c.447-1496G>C (n.447-1496G>C)
c.485+1G>C (n.485+1G>C)
17g.42909419G=CA2260696678G6PC1c.562+1G= (n.562+1G=)
c.447-1496G= (n.447-1496G=)
c.485+1G= (n.485+1G=)
17g.42909419G>TCA399655065G6PC1c.562+1G>T (n.562+1G>T)
c.447-1496G>T (n.447-1496G>T)
c.485+1G>T (n.485+1G>T)
 dbSNP
17g.42909420T>ACA399655066G6PC1c.562+2T>A (n.562+2T>A)
c.447-1495T>A (n.447-1495T>A)
c.485+2T>A (n.485+2T>A)
17g.42909420T>CCA399655067G6PC1c.562+2T>C (n.562+2T>C)
c.447-1495T>C (n.447-1495T>C)
c.485+2T>C (n.485+2T>C)
17g.42909420T>GCA399655068G6PC1c.562+2T>G (n.562+2T>G)
c.447-1495T>G (n.447-1495T>G)
c.485+2T>G (n.485+2T>G)
17g.42909421A=CA2260696679G6PC1c.562+3A= (n.562+3A=)
c.447-1494A= (n.447-1494A=)
c.485+3A= (n.485+3A=)
17g.42909421A>GCA290789018G6PC1c.562+3A>G (n.562+3A>G)
c.447-1494A>G (n.447-1494A>G)
c.485+3A>G (n.485+3A>G)
 dbSNP gnomAD v4
17g.42909422T>ACA2580093778G6PC1c.562+4T>A (n.562+4T>A)
c.447-1493T>A (n.447-1493T>A)
c.485+4T>A (n.485+4T>A)
 ClinVar
17g.42909422T>CCA2733908581G6PC1c.562+4T>C (n.562+4T>C)
c.447-1493T>C (n.447-1493T>C)
c.485+4T>C (n.485+4T>C)
 dbSNP
17g.42909423G>CCA2733908593G6PC1c.562+5G>C (n.562+5G>C)
c.447-1492G>C (n.447-1492G>C)
c.485+5G>C (n.485+5G>C)
 dbSNP
17g.42909423G>TCA2638040826G6PC1c.562+5G>T (n.562+5G>T)
c.447-1492G>T (n.447-1492G>T)
c.485+5G>T (n.485+5G>T)
 gnomAD v4
17g.42909424G>ACA2260696681G6PC1c.562+6G>A (n.562+6G>A)
c.447-1491G>A (n.447-1491G>A)
c.485+6G>A (n.485+6G>A)
 dbSNP gnomAD v4
17g.42909424G=CA2260696680G6PC1c.562+6G= (n.562+6G=)
c.447-1491G= (n.447-1491G=)
c.485+6G= (n.485+6G=)
17g.42909424G>TCA2733693745G6PC1c.562+6G>T (n.562+6G>T)
c.447-1491G>T (n.447-1491G>T)
c.485+6G>T (n.485+6G>T)
 dbSNP
17g.42909425G>ACA983870889G6PC1c.562+7G>A (n.562+7G>A)
c.447-1490G>A (n.447-1490G>A)
c.485+7G>A (n.485+7G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42909425G=CA2260696682G6PC1c.562+7G= (n.562+7G=)
c.447-1490G= (n.447-1490G=)
c.485+7G= (n.485+7G=)
17g.42909425G>TCA2733693746G6PC1c.562+7G>T (n.562+7G>T)
c.447-1490G>T (n.447-1490G>T)
c.485+7G>T (n.485+7G>T)
 dbSNP
17g.42909426C>ACA2260696684G6PC1c.562+8C>A (n.562+8C>A)
c.447-1489C>A (n.447-1489C>A)
c.485+8C>A (n.485+8C>A)
 dbSNP gnomAD v4
17g.42909426C=CA2260696683G6PC1c.562+8C= (n.562+8C=)
c.447-1489C= (n.447-1489C=)
c.485+8C= (n.485+8C=)
17g.42909427T>CCA626070437G6PC1c.562+9T>C (n.562+9T>C)
c.447-1488T>C (n.447-1488T>C)
c.485+9T>C (n.485+9T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42909427T=CA2260696685G6PC1c.562+9T= (n.562+9T=)
c.447-1488T= (n.447-1488T=)
c.485+9T= (n.485+9T=)
17g.42909428G>ACA8587609G6PC1c.562+10G>A (n.562+10G>A)
c.447-1487G>A (n.447-1487G>A)
c.485+10G>A (n.485+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42909428G>CCA2638040827G6PC1c.562+10G>C (n.562+10G>C)
c.447-1487G>C (n.447-1487G>C)
c.485+10G>C (n.485+10G>C)
 gnomAD v4
17g.42909428G=CA2260696686G6PC1c.562+10G= (n.562+10G=)
c.447-1487G= (n.447-1487G=)
c.485+10G= (n.485+10G=)
17g.42909429A=CA2260696687G6PC1c.562+11A= (n.562+11A=)
c.447-1486A= (n.447-1486A=)
c.485+11A= (n.485+11A=)
17g.42909429A>CCA626070438G6PC1c.562+11A>C (n.562+11A>C)
c.447-1486A>C (n.447-1486A>C)
c.485+11A>C (n.485+11A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42909431C>ACA2638040828G6PC1c.562+13C>A (n.562+13C>A)
c.447-1484C>A (n.447-1484C>A)
c.485+13C>A (n.485+13C>A)
 gnomAD v4
17g.42909431C=CA2260696688G6PC1c.562+13C= (n.562+13C=)
c.447-1484C= (n.447-1484C=)
c.485+13C= (n.485+13C=)
17g.42909431C>GCA2260696689G6PC1c.562+13C>G (n.562+13C>G)
c.447-1484C>G (n.447-1484C>G)
c.485+13C>G (n.485+13C>G)
 dbSNP
17g.42909432T>CCA2638040829G6PC1c.562+14T>C (n.562+14T>C)
c.447-1483T>C (n.447-1483T>C)
c.485+14T>C (n.485+14T>C)
 gnomAD v4
17g.42909432T>GCA2733908603G6PC1c.562+14T>G (n.562+14T>G)
c.447-1483T>G (n.447-1483T>G)
c.485+14T>G (n.485+14T>G)
 dbSNP
17g.42909433G>ACA2638040830G6PC1c.562+15G>A (n.562+15G>A)
c.447-1482G>A (n.447-1482G>A)
c.485+15G>A (n.485+15G>A)
 gnomAD v4
17g.42909435C>ACA2638040831G6PC1c.562+17C>A (n.562+17C>A)
c.447-1480C>A (n.447-1480C>A)
c.485+17C>A (n.485+17C>A)
 gnomAD v4
17g.42909437C>TCA2638040834G6PC1c.562+19C>T (n.562+19C>T)
c.447-1478C>T (n.447-1478C>T)
c.485+19C>T (n.485+19C>T)
 ClinVar gnomAD v4
17g.42909439delCA2638040833G6PC1c.562+21del (n.562+21del)
c.447-1476del (n.447-1476del)
c.485+21del (n.485+21del)
 gnomAD v4
17g.42909438C>ACA2638040835G6PC1c.562+20C>A (n.562+20C>A)
c.447-1477C>A (n.447-1477C>A)
c.485+20C>A (n.485+20C>A)
 gnomAD v4
17g.42909438C=CA2260696690G6PC1c.562+20C= (n.562+20C=)
c.447-1477C= (n.447-1477C=)
c.485+20C= (n.485+20C=)
17g.42909438C>TCA772150576G6PC1c.562+20C>T (n.562+20C>T)
c.447-1477C>T (n.447-1477C>T)
c.485+20C>T (n.485+20C>T)
 dbSNP gnomAD v4
17g.42909443_42909446delCA2576281007G6PC1c.562+25_562+28del (n.562+25_562+28del)
c.447-1472_447-1469del (n.447-1472_447-1469del)
c.485+25_485+28del (n.485+25_485+28del)
 ClinVar
17g.42909439C=CA2260696691G6PC1c.562+21C= (n.562+21C=)
c.447-1476C= (n.447-1476C=)
c.485+21C= (n.485+21C=)
17g.42909439C>GCA626070439G6PC1c.562+21C>G (n.562+21C>G)
c.447-1476C>G (n.447-1476C>G)
c.485+21C>G (n.485+21C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42909439C>TCA8587610G6PC1c.562+21C>T (n.562+21C>T)
c.447-1476C>T (n.447-1476C>T)
c.485+21C>T (n.485+21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42909440T>ACA2638040838G6PC1c.562+22T>A (n.562+22T>A)
c.447-1475T>A (n.447-1475T>A)
c.485+22T>A (n.485+22T>A)
 gnomAD v4
17g.42909442C=CA2260696692G6PC1c.562+24C= (n.562+24C=)
c.447-1473C= (n.447-1473C=)
c.485+24C= (n.485+24C=)
17g.42909442C>GCA626070440G6PC1c.562+24C>G (n.562+24C>G)
c.447-1473C>G (n.447-1473C>G)
c.485+24C>G (n.485+24C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.42909442C>TCA626070441G6PC1c.562+24C>T (n.562+24C>T)
c.447-1473C>T (n.447-1473C>T)
c.485+24C>T (n.485+24C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42909443C>ACA2576281009G6PC1c.562+25C>A (n.562+25C>A)
c.447-1472C>A (n.447-1472C>A)
c.485+25C>A (n.485+25C>A)
17g.42909445T>CCA2733908631G6PC1c.562+27T>C (n.562+27T>C)
c.447-1470T>C (n.447-1470T>C)
c.485+27T>C (n.485+27T>C)
 dbSNP
17g.42909446C=CA2260696693G6PC1c.562+28C= (n.562+28C=)
c.447-1469C= (n.447-1469C=)
c.485+28C= (n.485+28C=)
17g.42909446C>TCA2260696694G6PC1c.562+28C>T (n.562+28C>T)
c.447-1469C>T (n.447-1469C>T)
c.485+28C>T (n.485+28C>T)
 dbSNP

Number of alleles fetched