Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.128345165_128345168delinsGTCCCA1880238904SLC27A4c.172_175delinsGTCC (p.Val58=)
c.231+1884_231+1887delinsGTCC (n.231+1884_231+1887delinsGTCC)
9g.128345170_128345172delCA1129319716SLC27A4c.177_179del (p.Leu60del)
c.231+1889_231+1891del (n.231+1889_231+1891del)
dbSNP gnomAD v3 gnomAD v4
9g.128345167C>ACA467482890SLC27A4c.174C>A (p.Val58=)
c.231+1886C>A (n.231+1886C>A)
9g.128345167C=CA1880238908SLC27A4c.174C= (p.Val58=)
c.231+1886C= (n.231+1886C=)
9g.128345167C>GCA467482892SLC27A4c.174C>G (p.Val58=)
c.231+1886C>G (n.231+1886C>G)
9g.128345167C>TCA467482893SLC27A4c.174C>T (p.Val58=)
c.231+1886C>T (n.231+1886C>T)
dbSNP gnomAD v4
9g.128345168C>ACA375029274SLC27A4c.175C>A (p.Leu59Ile)
c.231+1887C>A (n.231+1887C>A)
9g.128345168C>GCA375029275SLC27A4c.175C>G (p.Leu59Val)
c.231+1887C>G (n.231+1887C>G)
9g.128345168C>TCA375029277SLC27A4c.175C>T (p.Leu59Phe)
c.231+1887C>T (n.231+1887C>T)
9g.128345169T>ACA375029280SLC27A4c.176T>A (p.Leu59His)
c.231+1888T>A (n.231+1888T>A)
9g.128345169T>CCA375029285SLC27A4c.176T>C (p.Leu59Pro)
c.231+1888T>C (n.231+1888T>C)
dbSNP
9g.128345169T>GCA375029282SLC27A4c.176T>G (p.Leu59Arg)
c.231+1888T>G (n.231+1888T>G)
9g.128345170C>ACA467482899SLC27A4c.177C>A (p.Leu59=)
c.231+1889C>A (n.231+1889C>A)
9g.128345170C>GCA467482898SLC27A4c.177C>G (p.Leu59=)
c.231+1889C>G (n.231+1889C>G)
9g.128345170C>TCA467482896SLC27A4c.177C>T (p.Leu59=)
c.231+1889C>T (n.231+1889C>T)
9g.128345171C>ACA375029286SLC27A4c.178C>A (p.Leu60Met)
c.231+1890C>A (n.231+1890C>A)
9g.128345171C>GCA375029289SLC27A4c.178C>G (p.Leu60Val)
c.231+1890C>G (n.231+1890C>G)
9g.128345171C>TCA467482900SLC27A4c.178C>T (p.Leu60=)
c.231+1890C>T (n.231+1890C>T)
9g.128345172T>ACA375029293SLC27A4c.179T>A (p.Leu60Gln)
c.231+1891T>A (n.231+1891T>A)
9g.128345172T>CCA375029295SLC27A4c.179T>C (p.Leu60Pro)
c.231+1891T>C (n.231+1891T>C)
9g.128345172T>GCA375029297SLC27A4c.179T>G (p.Leu60Arg)
c.231+1891T>G (n.231+1891T>G)
9g.128345173G>ACA467482901SLC27A4c.180G>A (p.Leu60=)
c.231+1892G>A (n.231+1892G>A)
9g.128345173G>CCA467482902SLC27A4c.180G>C (p.Leu60=)
c.231+1892G>C (n.231+1892G>C)
9g.128345173G>TCA467482903SLC27A4c.180G>T (p.Leu60=)
c.231+1892G>T (n.231+1892G>T)
9g.128345174A=CA1880238911SLC27A4c.181A= (p.Lys61=)
c.231+1893A= (n.231+1893A=)
9g.128345174A>CCA5260867SLC27A4c.181A>C (p.Lys61Gln)
c.231+1893A>C (n.231+1893A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.128345174A>GCA375029303SLC27A4c.181A>G (p.Lys61Glu)
c.231+1893A>G (n.231+1893A>G)
9g.128345174A>TCA375029305SLC27A4c.181A>T (p.Lys61Ter)
c.231+1893A>T (n.231+1893A>T)
9g.128345175A>CCA375029308SLC27A4c.182A>C (p.Lys61Thr)
c.231+1894A>C (n.231+1894A>C)
9g.128345175A>GCA375029311SLC27A4c.182A>G (p.Lys61Arg)
c.231+1894A>G (n.231+1894A>G)
9g.128345175A>TCA375029313SLC27A4c.182A>T (p.Lys61Met)
c.231+1894A>T (n.231+1894A>T)
9g.128345176G>ACA467482905SLC27A4c.183G>A (p.Lys61=)
c.231+1895G>A (n.231+1895G>A)
9g.128345176G>CCA375029321SLC27A4c.183G>C (p.Lys61Asn)
c.231+1895G>C (n.231+1895G>C)
9g.128345176G>TCA375029318SLC27A4c.183G>T (p.Lys61Asn)
c.231+1895G>T (n.231+1895G>T)
9g.128345177G>ACA375029324SLC27A4c.184G>A (p.Val62Met)
c.231+1896G>A (n.231+1896G>A)
dbSNP gnomAD v2 gnomAD v4
9g.128345177G>CCA200350374SLC27A4c.184G>C (p.Val62Leu)
c.231+1896G>C (n.231+1896G>C)
dbSNP gnomAD v3 gnomAD v4
9g.128345177G=CA1880238916SLC27A4c.184G= (p.Val62=)
c.231+1896G= (n.231+1896G=)
9g.128345177G>TCA375029328SLC27A4c.184G>T (p.Val62Leu)
c.231+1896G>T (n.231+1896G>T)
9g.128345178T>ACA375029331SLC27A4c.185T>A (p.Val62Glu)
c.231+1897T>A (n.231+1897T>A)
9g.128345178T>CCA375029334SLC27A4c.185T>C (p.Val62Ala)
c.231+1897T>C (n.231+1897T>C)
9g.128345178T>GCA375029336SLC27A4c.185T>G (p.Val62Gly)
c.231+1897T>G (n.231+1897T>G)
gnomAD v4
9g.128345178T=CA1880238918SLC27A4c.185T= (p.Val62=)
c.231+1897T= (n.231+1897T=)
9g.128345178_128345179insTCACA5260868SLC27A4c.185_186insTCA (p.Val62_Lys63insGln)
c.231+1897_231+1898insTCA (n.231+1897_231+1898insTCA)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.128345179G>ACA467482909SLC27A4c.186G>A (p.Val62=)
c.231+1898G>A (n.231+1898G>A)
dbSNP COSMIC
9g.128345179G>CCA467482910SLC27A4c.186G>C (p.Val62=)
c.231+1898G>C (n.231+1898G>C)
9g.128345179G=CA1880238921SLC27A4c.186G= (p.Val62=)
c.231+1898G= (n.231+1898G=)
9g.128345179G>TCA467482911SLC27A4c.186G>T (p.Val62=)
c.231+1898G>T (n.231+1898G>T)
9g.128345180A>CCA375029345SLC27A4c.187A>C (p.Lys63Gln)
c.231+1899A>C (n.231+1899A>C)
9g.128345180A>GCA375029340SLC27A4c.187A>G (p.Lys63Glu)
c.231+1899A>G (n.231+1899A>G)
9g.128345180A>TCA375029343SLC27A4c.187A>T (p.Lys63Ter)
c.231+1899A>T (n.231+1899A>T)

Number of alleles fetched