Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.116120183_116120184delCA2695206886COL10A1,NT5DC1c.529+2238_529+2239del (n.529+2238_529+2239del)
c.1934_1935del (p.Thr645ArgfsTer3)
c.27+2238_27+2239del
6g.116120184G>ACA451899392COL10A1,NT5DC1c.529+2239G>A (n.529+2239G>A)
c.1932C>T (p.Leu644=)
c.27+2239G>A
dbSNP gnomAD v2 gnomAD v4
6g.116120184G>CCA451899393COL10A1,NT5DC1c.529+2239G>C (n.529+2239G>C)
c.1932C>G (p.Leu644=)
c.27+2239G>C
6g.116120184G=CA1657093221COL10A1,NT5DC1c.529+2239G= (n.529+2239G=)
c.1932C= (p.Leu644=)
c.27+2239G=
6g.116120184G>TCA451899394COL10A1,NT5DC1c.529+2239G>T (n.529+2239G>T)
c.1932C>A (p.Leu644=)
c.27+2239G>T
6g.116120185A>CCA365386377COL10A1,NT5DC1c.529+2240A>C (n.529+2240A>C)
c.1931T>G (p.Leu644Arg)
c.27+2240A>C
6g.116120185A>GCA365386378COL10A1,NT5DC1c.529+2240A>G (n.529+2240A>G)
c.1931T>C (p.Leu644Pro)
c.27+2240A>G
6g.116120185A>TCA365386379COL10A1,NT5DC1c.529+2240A>T (n.529+2240A>T)
c.1931T>A (p.Leu644His)
c.27+2240A>T
6g.116120186G>ACA365386382COL10A1,NT5DC1c.529+2241G>A (n.529+2241G>A)
c.1930C>T (p.Leu644Phe)
c.27+2241G>A
6g.116120186G>CCA365386381COL10A1,NT5DC1c.529+2241G>C (n.529+2241G>C)
c.1930C>G (p.Leu644Val)
c.27+2241G>C
6g.116120186G=CA1657093222COL10A1,NT5DC1c.529+2241G= (n.529+2241G=)
c.1930C= (p.Leu644=)
c.27+2241G=
6g.116120186G>TCA365386380COL10A1,NT5DC1c.529+2241G>T (n.529+2241G>T)
c.1930C>A (p.Leu644Ile)
c.27+2241G>T
dbSNP gnomAD v4
6g.116120187A>CCA365386383COL10A1,NT5DC1c.529+2242A>C (n.529+2242A>C)
c.1929T>G (p.Asp643Glu)
c.27+2242A>C
6g.116120187A>GCA451899395COL10A1,NT5DC1c.529+2242A>G (n.529+2242A>G)
c.1929T>C (p.Asp643=)
c.27+2242A>G
gnomAD v4
6g.116120187A>TCA365386384COL10A1,NT5DC1c.529+2242A>T (n.529+2242A>T)
c.1929T>A (p.Asp643Glu)
c.27+2242A>T
6g.116120188T>ACA365386385COL10A1,NT5DC1c.529+2243T>A (n.529+2243T>A)
c.1928A>T (p.Asp643Val)
c.27+2243T>A
6g.116120188T>CCA365386386COL10A1,NT5DC1c.529+2243T>C (n.529+2243T>C)
c.1928A>G (p.Asp643Gly)
c.27+2243T>C
6g.116120188T>GCA3968090COL10A1,NT5DC1c.529+2243T>G (n.529+2243T>G)
c.1928A>C (p.Asp643Ala)
c.27+2243T>G
dbSNP ExAC gnomAD v2 gnomAD v4
6g.116120188T=CA1657093223COL10A1,NT5DC1c.529+2243T= (n.529+2243T=)
c.1928A= (p.Asp643=)
c.27+2243T=
6g.116120189C>ACA365386387COL10A1,NT5DC1c.529+2244C>A (n.529+2244C>A)
c.1927G>T (p.Asp643Tyr)
c.27+2244C>A
6g.116120189C=CA1657093224COL10A1,NT5DC1c.529+2244C= (n.529+2244C=)
c.1927G= (p.Asp643=)
c.27+2244C=
6g.116120189C>GCA3968092COL10A1,NT5DC1c.529+2244C>G (n.529+2244C>G)
c.1927G>C (p.Asp643His)
c.27+2244C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116120189C>TCA3968091COL10A1,NT5DC1c.529+2244C>T (n.529+2244C>T)
c.1927G>A (p.Asp643Asn)
c.27+2244C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116120190G>ACA451899399COL10A1,NT5DC1c.529+2245G>A (n.529+2245G>A)
c.1926C>T (p.Ile642=)
c.27+2245G>A
dbSNP gnomAD v2 gnomAD v4
6g.116120190G>CCA365386389COL10A1,NT5DC1c.529+2245G>C (n.529+2245G>C)
c.1926C>G (p.Ile642Met)
c.27+2245G>C
6g.116120190G=CA1657093225COL10A1,NT5DC1c.529+2245G= (n.529+2245G=)
c.1926C= (p.Ile642=)
c.27+2245G=
6g.116120190G>TCA451899400COL10A1,NT5DC1c.529+2245G>T (n.529+2245G>T)
c.1926C>A (p.Ile642=)
c.27+2245G>T
COSMIC
6g.116120191A>CCA365386391COL10A1,NT5DC1c.529+2246A>C (n.529+2246A>C)
c.1925T>G (p.Ile642Ser)
c.27+2246A>C
ClinVar
6g.116120191A>GCA365386392COL10A1,NT5DC1c.529+2246A>G (n.529+2246A>G)
c.1925T>C (p.Ile642Thr)
c.27+2246A>G
6g.116120191A>TCA365386393COL10A1,NT5DC1c.529+2246A>T (n.529+2246A>T)
c.1925T>A (p.Ile642Asn)
c.27+2246A>T
6g.116120192T>ACA365386394COL10A1,NT5DC1c.529+2247T>A (n.529+2247T>A)
c.1924A>T (p.Ile642Phe)
c.27+2247T>A
6g.116120192T>CCA365386395COL10A1,NT5DC1c.529+2247T>C (n.529+2247T>C)
c.1924A>G (p.Ile642Val)
c.27+2247T>C
dbSNP gnomAD v2 gnomAD v4
6g.116120192T>GCA365386397COL10A1,NT5DC1c.529+2247T>G (n.529+2247T>G)
c.1924A>C (p.Ile642Leu)
c.27+2247T>G
6g.116120192T=CA1657093226COL10A1,NT5DC1c.529+2247T= (n.529+2247T=)
c.1924A= (p.Ile642=)
c.27+2247T=
6g.116120193G>ACA451899404COL10A1,NT5DC1c.529+2248G>A (n.529+2248G>A)
c.1923C>T (p.Ile641=)
c.27+2248G>A
6g.116120193G>CCA365386398COL10A1,NT5DC1c.529+2248G>C (n.529+2248G>C)
c.1923C>G (p.Ile641Met)
c.27+2248G>C
gnomAD v4
6g.116120193G>TCA451899405COL10A1,NT5DC1c.529+2248G>T (n.529+2248G>T)
c.1923C>A (p.Ile641=)
c.27+2248G>T
6g.116120194A>CCA365386399COL10A1,NT5DC1c.529+2249A>C (n.529+2249A>C)
c.1922T>G (p.Ile641Ser)
c.27+2249A>C
6g.116120194A>GCA365386400COL10A1,NT5DC1c.529+2249A>G (n.529+2249A>G)
c.1922T>C (p.Ile641Thr)
c.27+2249A>G
gnomAD v4
6g.116120194A>TCA365386401COL10A1,NT5DC1c.529+2249A>T (n.529+2249A>T)
c.1922T>A (p.Ile641Asn)
c.27+2249A>T
6g.116120195T>ACA365386402COL10A1,NT5DC1c.529+2250T>A (n.529+2250T>A)
c.1921A>T (p.Ile641Phe)
c.27+2250T>A
6g.116120195T>CCA365386403COL10A1,NT5DC1c.529+2250T>C (n.529+2250T>C)
c.1921A>G (p.Ile641Val)
c.27+2250T>C
6g.116120195T>GCA365386404COL10A1,NT5DC1c.529+2250T>G (n.529+2250T>G)
c.1921A>C (p.Ile641Leu)
c.27+2250T>G
6g.116120196G>ACA451899409COL10A1,NT5DC1c.529+2251G>A (n.529+2251G>A)
c.1920C>T (p.Ala640=)
c.27+2251G>A
6g.116120196G>CCA451899411COL10A1,NT5DC1c.529+2251G>C (n.529+2251G>C)
c.1920C>G (p.Ala640=)
c.27+2251G>C
6g.116120196G>TCA451899410COL10A1,NT5DC1c.529+2251G>T (n.529+2251G>T)
c.1920C>A (p.Ala640=)
c.27+2251G>T
6g.116120197G>ACA3968093COL10A1,NT5DC1c.529+2252G>A (n.529+2252G>A)
c.1919C>T (p.Ala640Val)
c.27+2252G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.116120197G>CCA365386406COL10A1,NT5DC1c.529+2252G>C (n.529+2252G>C)
c.1919C>G (p.Ala640Gly)
c.27+2252G>C
6g.116120197G=CA1657093227COL10A1,NT5DC1c.529+2252G= (n.529+2252G=)
c.1919C= (p.Ala640=)
c.27+2252G=
6g.116120197G>TCA365386405COL10A1,NT5DC1c.529+2252G>T (n.529+2252G>T)
c.1919C>A (p.Ala640Asp)
c.27+2252G>T

Number of alleles fetched