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.116120161_116120172delCA2695206885COL10A1,NT5DC1c.529+2216_529+2227del (n.529+2216_529+2227del)
c.1948_1959del (p.Val650_Gln653del)
c.27+2216_27+2227del
6g.116120162_116120168delinsGCCACACCA1657093208COL10A1,NT5DC1c.529+2217_529+2223delinsGCCACAC (n.529+2217_529+2223delinsGCCACAC)
c.1948_1954delinsGTGTGGC (p.Val650=)
c.27+2217_27+2223delinsGCCACAC
6g.116120164_116120169delCA915943614COL10A1,NT5DC1c.529+2219_529+2224del (n.529+2219_529+2224del)
c.1948_1953del (p.Val650_Trp651del)
c.27+2219_27+2224del
 ClinVar dbSNP
6g.116120167_116120168dupCA2580617326COL10A1,NT5DC1c.529+2222_529+2223dup (n.529+2222_529+2223dup)
c.1951_1952dup (p.Trp651CysfsTer27)
c.27+2222_27+2223dup
 ClinVar dbSNP
6g.116120165A=CA1657093211COL10A1,NT5DC1c.529+2220A= (n.529+2220A=)
c.1951T= (p.Trp651=)
c.27+2220A=
6g.116120165A>CCA365386333COL10A1,NT5DC1c.529+2220A>C (n.529+2220A>C)
c.1951T>G (p.Trp651Gly)
c.27+2220A>C
 ClinVar
6g.116120165A>GCA127217COL10A1,NT5DC1c.529+2220A>G (n.529+2220A>G)
c.1951T>C (p.Trp651Arg)
c.27+2220A>G
 ClinVar dbSNP
6g.116120165A>TCA365386334COL10A1,NT5DC1c.529+2220A>T (n.529+2220A>T)
c.1951T>A (p.Trp651Arg)
c.27+2220A>T
6g.116120166C>ACA451899384COL10A1,NT5DC1c.529+2221C>A (n.529+2221C>A)
c.1950G>T (p.Val650=)
c.27+2221C>A
6g.116120166C=CA1657093212COL10A1,NT5DC1c.529+2221C= (n.529+2221C=)
c.1950G= (p.Val650=)
c.27+2221C=
6g.116120166C>GCA451899385COL10A1,NT5DC1c.529+2221C>G (n.529+2221C>G)
c.1950G>C (p.Val650=)
c.27+2221C>G
6g.116120166C>TCA3968086COL10A1,NT5DC1c.529+2221C>T (n.529+2221C>T)
c.1950G>A (p.Val650=)
c.27+2221C>T
 dbSNP ExAC gnomAD v4
6g.116120167A>CCA365386335COL10A1,NT5DC1c.529+2222A>C (n.529+2222A>C)
c.1949T>G (p.Val650Gly)
c.27+2222A>C
6g.116120167A>GCA365386336COL10A1,NT5DC1c.529+2222A>G (n.529+2222A>G)
c.1949T>C (p.Val650Ala)
c.27+2222A>G
6g.116120167A>TCA365386337COL10A1,NT5DC1c.529+2222A>T (n.529+2222A>T)
c.1949T>A (p.Val650Glu)
c.27+2222A>T
6g.116120168C>ACA365386340COL10A1,NT5DC1c.529+2223C>A (n.529+2223C>A)
c.1948G>T (p.Val650Leu)
c.27+2223C>A
6g.116120168C>GCA365386339COL10A1,NT5DC1c.529+2223C>G (n.529+2223C>G)
c.1948G>C (p.Val650Leu)
c.27+2223C>G
6g.116120168C>TCA365386338COL10A1,NT5DC1c.529+2223C>T (n.529+2223C>T)
c.1948G>A (p.Val650Met)
c.27+2223C>T
6g.116120169C>ACA365386341COL10A1,NT5DC1c.529+2224C>A (n.529+2224C>A)
c.1947G>T (p.Gln649His)
c.27+2224C>A
6g.116120169C=CA1657093213COL10A1,NT5DC1c.529+2224C= (n.529+2224C=)
c.1947G= (p.Gln649=)
c.27+2224C=
6g.116120169C>GCA365386342COL10A1,NT5DC1c.529+2224C>G (n.529+2224C>G)
c.1947G>C (p.Gln649His)
c.27+2224C>G
 dbSNP gnomAD v4
6g.116120169C>TCA451899386COL10A1,NT5DC1c.529+2224C>T (n.529+2224C>T)
c.1947G>A (p.Gln649=)
c.27+2224C>T
6g.116120169_116120170insCTACAAAATGCATACA1657093214COL10A1,NT5DC1c.529+2224_529+2225insCTACAAAATGCATA (n.529+2224_529+2225insCTACAAAATGCATA)
c.1946_1947insTATGCATTTTGTAG (p.Gln649HisfsTer33)
c.27+2224_27+2225insCTACAAAATGCATA
 dbSNP
6g.116120170delCA2580074794COL10A1,NT5DC1c.529+2225del (n.529+2225del)
c.1946del (p.Gln649ArgfsTer28)
c.27+2225del
 ClinVar
6g.116120170T>ACA365386343COL10A1,NT5DC1c.529+2225T>A (n.529+2225T>A)
c.1946A>T (p.Gln649Leu)
c.27+2225T>A
6g.116120170T>CCA365386344COL10A1,NT5DC1c.529+2225T>C (n.529+2225T>C)
c.1946A>G (p.Gln649Arg)
c.27+2225T>C
6g.116120170T>GCA365386345COL10A1,NT5DC1c.529+2225T>G (n.529+2225T>G)
c.1946A>C (p.Gln649Pro)
c.27+2225T>G
6g.116120171G>ACA365386346COL10A1,NT5DC1c.529+2226G>A (n.529+2226G>A)
c.1945C>T (p.Gln649Ter)
c.27+2226G>A
6g.116120171G>CCA365386347COL10A1,NT5DC1c.529+2226G>C (n.529+2226G>C)
c.1945C>G (p.Gln649Glu)
c.27+2226G>C
6g.116120171G>TCA365386348COL10A1,NT5DC1c.529+2226G>T (n.529+2226G>T)
c.1945C>A (p.Gln649Lys)
c.27+2226G>T
6g.116120172G>ACA3968088COL10A1,NT5DC1c.529+2227G>A (n.529+2227G>A)
c.1944C>T (p.Asp648=)
c.27+2227G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116120172G>CCA365386349COL10A1,NT5DC1c.529+2227G>C (n.529+2227G>C)
c.1944C>G (p.Asp648Glu)
c.27+2227G>C
6g.116120172G=CA1657093215COL10A1,NT5DC1c.529+2227G= (n.529+2227G=)
c.1944C= (p.Asp648=)
c.27+2227G=
6g.116120172G>TCA3968087COL10A1,NT5DC1c.529+2227G>T (n.529+2227G>T)
c.1944C>A (p.Asp648Glu)
c.27+2227G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.116120173T>ACA365386351COL10A1,NT5DC1c.529+2228T>A (n.529+2228T>A)
c.1943A>T (p.Asp648Val)
c.27+2228T>A
6g.116120173T>CCA365386352COL10A1,NT5DC1c.529+2228T>C (n.529+2228T>C)
c.1943A>G (p.Asp648Gly)
c.27+2228T>C
6g.116120173T>GCA365386350COL10A1,NT5DC1c.529+2228T>G (n.529+2228T>G)
c.1943A>C (p.Asp648Ala)
c.27+2228T>G
6g.116120174C>ACA365386353COL10A1,NT5DC1c.529+2229C>A (n.529+2229C>A)
c.1942G>T (p.Asp648Tyr)
c.27+2229C>A
6g.116120174C=CA1657093216COL10A1,NT5DC1c.529+2229C= (n.529+2229C=)
c.1942G= (p.Asp648=)
c.27+2229C=
6g.116120174C>GCA365386354COL10A1,NT5DC1c.529+2229C>G (n.529+2229C>G)
c.1942G>C (p.Asp648His)
c.27+2229C>G
 ClinVar dbSNP
6g.116120174C>TCA365386355COL10A1,NT5DC1c.529+2229C>T (n.529+2229C>T)
c.1942G>A (p.Asp648Asn)
c.27+2229C>T
6g.116120175A=CA1657093217COL10A1,NT5DC1c.529+2230A= (n.529+2230A=)
c.1941T= (p.Asn647=)
c.27+2230A=
6g.116120175A>CCA365386356COL10A1,NT5DC1c.529+2230A>C (n.529+2230A>C)
c.1941T>G (p.Asn647Lys)
c.27+2230A>C
6g.116120175A>GCA3968089COL10A1,NT5DC1c.529+2230A>G (n.529+2230A>G)
c.1941T>C (p.Asn647=)
c.27+2230A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.116120175A>TCA365386357COL10A1,NT5DC1c.529+2230A>T (n.529+2230A>T)
c.1941T>A (p.Asn647Lys)
c.27+2230A>T
6g.116120176T>ACA365386360COL10A1,NT5DC1c.529+2231T>A (n.529+2231T>A)
c.1940A>T (p.Asn647Ile)
c.27+2231T>A
6g.116120176T>CCA365386358COL10A1,NT5DC1c.529+2231T>C (n.529+2231T>C)
c.1940A>G (p.Asn647Ser)
c.27+2231T>C
6g.116120176T>GCA365386359COL10A1,NT5DC1c.529+2231T>G (n.529+2231T>G)
c.1940A>C (p.Asn647Thr)
c.27+2231T>G
6g.116120177T>ACA365386361COL10A1,NT5DC1c.529+2232T>A (n.529+2232T>A)
c.1939A>T (p.Asn647Tyr)
c.27+2232T>A

Number of alleles fetched