Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)

Number of alleles fetched