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?)
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.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=)

Number of alleles fetched