Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.116120088_116120166dupCA2680093579COL10A1,NT5DC1c.529+2143_529+2221dup (n.529+2143_529+2221dup)
c.1959_2037dup (p.Met680AlafsTer13)
c.27+2143_27+2221dup
gnomAD v4
6g.116120101_116120106delCA645555754COL10A1,NT5DC1c.529+2156_529+2161del (n.529+2156_529+2161del)
c.2013_2018del (p.Phe672_Ser673del)
c.27+2156_27+2161del
COSMIC
6g.116120105_116120106delCA2680093582COL10A1,NT5DC1c.529+2160_529+2161del (n.529+2160_529+2161del)
c.2012_2013del (p.Ser671PhefsTer?)
c.27+2160_27+2161del
gnomAD v4
6g.116120105A=CA1657093179COL10A1,NT5DC1c.529+2160A= (n.529+2160A=)
c.2011T= (p.Ser671=)
c.27+2160A=
6g.116120105A>CCA365386205COL10A1,NT5DC1c.529+2160A>C (n.529+2160A>C)
c.2011T>G (p.Ser671Ala)
c.27+2160A>C
gnomAD v4
6g.116120105A>GCA127220COL10A1,NT5DC1c.529+2160A>G (n.529+2160A>G)
c.2011T>C (p.Ser671Pro)
c.27+2160A>G
ClinVar dbSNP
6g.116120105A>TCA365386206COL10A1,NT5DC1c.529+2160A>T (n.529+2160A>T)
c.2011T>A (p.Ser671Thr)
c.27+2160A>T
6g.116120106G>ACA451899346COL10A1,NT5DC1c.529+2161G>A (n.529+2161G>A)
c.2010C>T (p.Ser670=)
c.27+2161G>A
6g.116120106G>CCA451899347COL10A1,NT5DC1c.529+2161G>C (n.529+2161G>C)
c.2010C>G (p.Ser670=)
c.27+2161G>C
6g.116120106G>TCA451899348COL10A1,NT5DC1c.529+2161G>T (n.529+2161G>T)
c.2010C>A (p.Ser670=)
c.27+2161G>T
6g.116120107dupCA2499218042COL10A1,NT5DC1c.529+2162dup (n.529+2162dup)
c.2010dup (p.Ser671LeufsTer?)
c.27+2162dup
ClinVar dbSNP
6g.116120107G>ACA365386207COL10A1,NT5DC1c.529+2162G>A (n.529+2162G>A)
c.2009C>T (p.Ser670Phe)
c.27+2162G>A
6g.116120107G>CCA365386208COL10A1,NT5DC1c.529+2162G>C (n.529+2162G>C)
c.2009C>G (p.Ser670Cys)
c.27+2162G>C
6g.116120107G>TCA365386209COL10A1,NT5DC1c.529+2162G>T (n.529+2162G>T)
c.2009C>A (p.Ser670Tyr)
c.27+2162G>T
6g.116120108A>CCA365386212COL10A1,NT5DC1c.529+2163A>C (n.529+2163A>C)
c.2008T>G (p.Ser670Ala)
c.27+2163A>C
6g.116120108A>GCA365386211COL10A1,NT5DC1c.529+2163A>G (n.529+2163A>G)
c.2008T>C (p.Ser670Pro)
c.27+2163A>G
COSMIC
6g.116120108A>TCA365386210COL10A1,NT5DC1c.529+2163A>T (n.529+2163A>T)
c.2008T>A (p.Ser670Thr)
c.27+2163A>T
6g.116120109G>ACA3968076COL10A1,NT5DC1c.529+2164G>A (n.529+2164G>A)
c.2007C>T (p.His669=)
c.27+2164G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116120109G>CCA365386214COL10A1,NT5DC1c.529+2164G>C (n.529+2164G>C)
c.2007C>G (p.His669Gln)
c.27+2164G>C
6g.116120109G=CA1657093180COL10A1,NT5DC1c.529+2164G= (n.529+2164G=)
c.2007C= (p.His669=)
c.27+2164G=
6g.116120109G>TCA365386213COL10A1,NT5DC1c.529+2164G>T (n.529+2164G>T)
c.2007C>A (p.His669Gln)
c.27+2164G>T
6g.116120110T>ACA365386215COL10A1,NT5DC1c.529+2165T>A (n.529+2165T>A)
c.2006A>T (p.His669Leu)
c.27+2165T>A
6g.116120110T>CCA365386216COL10A1,NT5DC1c.529+2165T>C (n.529+2165T>C)
c.2006A>G (p.His669Arg)
c.27+2165T>C
dbSNP gnomAD v4
6g.116120110T>GCA365386217COL10A1,NT5DC1c.529+2165T>G (n.529+2165T>G)
c.2006A>C (p.His669Pro)
c.27+2165T>G
6g.116120110T=CA1657093181COL10A1,NT5DC1c.529+2165T= (n.529+2165T=)
c.2006A= (p.His669=)
c.27+2165T=
6g.116120111G>ACA3968077COL10A1,NT5DC1c.529+2166G>A (n.529+2166G>A)
c.2005C>T (p.His669Tyr)
c.27+2166G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116120111G>CCA365386218COL10A1,NT5DC1c.529+2166G>C (n.529+2166G>C)
c.2005C>G (p.His669Asp)
c.27+2166G>C
6g.116120111G=CA1657093182COL10A1,NT5DC1c.529+2166G= (n.529+2166G=)
c.2005C= (p.His669=)
c.27+2166G=
6g.116120111G>TCA365386219COL10A1,NT5DC1c.529+2166G>T (n.529+2166G>T)
c.2005C>A (p.His669Asn)
c.27+2166G>T
6g.116120112delCA2695206881COL10A1,NT5DC1c.529+2167del (n.529+2167del)
c.2005del (p.His669ThrfsTer8)
c.27+2167del
6g.116120112G>ACA451899349COL10A1,NT5DC1c.529+2167G>A (n.529+2167G>A)
c.2004C>T (p.Val668=)
c.27+2167G>A
dbSNP
6g.116120112G>CCA451899350COL10A1,NT5DC1c.529+2167G>C (n.529+2167G>C)
c.2004C>G (p.Val668=)
c.27+2167G>C
6g.116120112G=CA1657093183COL10A1,NT5DC1c.529+2167G= (n.529+2167G=)
c.2004C= (p.Val668=)
c.27+2167G=
6g.116120112G>TCA451899351COL10A1,NT5DC1c.529+2167G>T (n.529+2167G>T)
c.2004C>A (p.Val668=)
c.27+2167G>T
gnomAD v4
6g.116120113A=CA1657093184COL10A1,NT5DC1c.529+2168A= (n.529+2168A=)
c.2003T= (p.Val668=)
c.27+2168A=
6g.116120113A>CCA365386220COL10A1,NT5DC1c.529+2168A>C (n.529+2168A>C)
c.2003T>G (p.Val668Gly)
c.27+2168A>C
6g.116120113A>GCA3968078COL10A1,NT5DC1c.529+2168A>G (n.529+2168A>G)
c.2003T>C (p.Val668Ala)
c.27+2168A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116120113A>TCA365386221COL10A1,NT5DC1c.529+2168A>T (n.529+2168A>T)
c.2003T>A (p.Val668Asp)
c.27+2168A>T
6g.116120114C>ACA365386222COL10A1,NT5DC1c.529+2169C>A (n.529+2169C>A)
c.2002G>T (p.Val668Phe)
c.27+2169C>A
6g.116120114C=CA1657093185COL10A1,NT5DC1c.529+2169C= (n.529+2169C=)
c.2002G= (p.Val668=)
c.27+2169C=
6g.116120114C>GCA365386223COL10A1,NT5DC1c.529+2169C>G (n.529+2169C>G)
c.2002G>C (p.Val668Leu)
c.27+2169C>G
6g.116120114C>TCA365386224COL10A1,NT5DC1c.529+2169C>T (n.529+2169C>T)
c.2002G>A (p.Val668Ile)
c.27+2169C>T
dbSNP
6g.116120116_116120121delCA645555755COL10A1,NT5DC1c.529+2171_529+2176del (n.529+2171_529+2176del)
c.1997_2002del (p.Glu666_Tyr667del)
c.27+2171_27+2176del
COSMIC
6g.116120115A>CCA365386225COL10A1,NT5DC1c.529+2170A>C (n.529+2170A>C)
c.2001T>G (p.Tyr667Ter)
c.27+2170A>C
6g.116120115A>GCA451899352COL10A1,NT5DC1c.529+2170A>G (n.529+2170A>G)
c.2001T>C (p.Tyr667=)
c.27+2170A>G
gnomAD v4
6g.116120115A>TCA365386226COL10A1,NT5DC1c.529+2170A>T (n.529+2170A>T)
c.2001T>A (p.Tyr667Ter)
c.27+2170A>T
6g.116120116T>ACA365386227COL10A1,NT5DC1c.529+2171T>A (n.529+2171T>A)
c.2000A>T (p.Tyr667Phe)
c.27+2171T>A
6g.116120116T>CCA365386228COL10A1,NT5DC1c.529+2171T>C (n.529+2171T>C)
c.2000A>G (p.Tyr667Cys)
c.27+2171T>C
6g.116120116T>GCA365386229COL10A1,NT5DC1c.529+2171T>G (n.529+2171T>G)
c.2000A>C (p.Tyr667Ser)
c.27+2171T>G
6g.116120117A>CCA365386230COL10A1,NT5DC1c.529+2172A>C (n.529+2172A>C)
c.1999T>G (p.Tyr667Asp)
c.27+2172A>C

Number of alleles fetched