Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.116120194A>C | CA365386399 | COL10A1,NT5DC1 | c.529+2249A>C (n.529+2249A>C) c.1922T>G (p.Ile641Ser) c.27+2249A>C | |
6 | g.116120194A>G | CA365386400 | COL10A1,NT5DC1 | c.529+2249A>G (n.529+2249A>G) c.1922T>C (p.Ile641Thr) c.27+2249A>G | gnomAD v4 |
6 | g.116120194A>T | CA365386401 | COL10A1,NT5DC1 | c.529+2249A>T (n.529+2249A>T) c.1922T>A (p.Ile641Asn) c.27+2249A>T | |
6 | g.116120195T>A | CA365386402 | COL10A1,NT5DC1 | c.529+2250T>A (n.529+2250T>A) c.1921A>T (p.Ile641Phe) c.27+2250T>A | |
6 | g.116120195T>C | CA365386403 | COL10A1,NT5DC1 | c.529+2250T>C (n.529+2250T>C) c.1921A>G (p.Ile641Val) c.27+2250T>C | |
6 | g.116120195T>G | CA365386404 | COL10A1,NT5DC1 | c.529+2250T>G (n.529+2250T>G) c.1921A>C (p.Ile641Leu) c.27+2250T>G | |
6 | g.116120196G>A | CA451899409 | COL10A1,NT5DC1 | c.529+2251G>A (n.529+2251G>A) c.1920C>T (p.Ala640=) c.27+2251G>A | |
6 | g.116120196G>C | CA451899411 | COL10A1,NT5DC1 | c.529+2251G>C (n.529+2251G>C) c.1920C>G (p.Ala640=) c.27+2251G>C | |
6 | g.116120196G>T | CA451899410 | COL10A1,NT5DC1 | c.529+2251G>T (n.529+2251G>T) c.1920C>A (p.Ala640=) c.27+2251G>T | |
6 | g.116120197G>A | CA3968093 | COL10A1,NT5DC1 | c.529+2252G>A (n.529+2252G>A) c.1919C>T (p.Ala640Val) c.27+2252G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116120197G>C | CA365386406 | COL10A1,NT5DC1 | c.529+2252G>C (n.529+2252G>C) c.1919C>G (p.Ala640Gly) c.27+2252G>C | |
6 | g.116120197G= | CA1657093227 | COL10A1,NT5DC1 | c.529+2252G= (n.529+2252G=) c.1919C= (p.Ala640=) c.27+2252G= | |
6 | g.116120197G>T | CA365386405 | COL10A1,NT5DC1 | c.529+2252G>T (n.529+2252G>T) c.1919C>A (p.Ala640Asp) c.27+2252G>T | |
6 | g.116120198C>A | CA365386408 | COL10A1,NT5DC1 | c.529+2253C>A (n.529+2253C>A) c.1918G>T (p.Ala640Ser) c.27+2253C>A | |
6 | g.116120198C= | CA1657093228 | COL10A1,NT5DC1 | c.529+2253C= (n.529+2253C=) c.1918G= (p.Ala640=) c.27+2253C= | |
6 | g.116120198C>G | CA365386410 | COL10A1,NT5DC1 | c.529+2253C>G (n.529+2253C>G) c.1918G>C (p.Ala640Pro) c.27+2253C>G | ClinVar |
6 | g.116120198C>T | CA365386411 | COL10A1,NT5DC1 | c.529+2253C>T (n.529+2253C>T) c.1918G>A (p.Ala640Thr) c.27+2253C>T | dbSNP gnomAD v4 |
6 | g.116120199A>C | CA365386412 | COL10A1,NT5DC1 | c.529+2254A>C (n.529+2254A>C) c.1917T>G (p.Ser639Arg) c.27+2254A>C | |
6 | g.116120199A>G | CA451899412 | COL10A1,NT5DC1 | c.529+2254A>G (n.529+2254A>G) c.1917T>C (p.Ser639=) c.27+2254A>G | gnomAD v4 |
6 | g.116120199A>T | CA365386414 | COL10A1,NT5DC1 | c.529+2254A>T (n.529+2254A>T) c.1917T>A (p.Ser639Arg) c.27+2254A>T | |
6 | g.116120200C>A | CA365386415 | COL10A1,NT5DC1 | c.529+2255C>A (n.529+2255C>A) c.1916G>T (p.Ser639Ile) c.27+2255C>A | |
6 | g.116120200C= | CA1657093229 | COL10A1,NT5DC1 | c.529+2255C= (n.529+2255C=) c.1916G= (p.Ser639=) c.27+2255C= | |
6 | g.116120200C>G | CA365386416 | COL10A1,NT5DC1 | c.529+2255C>G (n.529+2255C>G) c.1916G>C (p.Ser639Thr) c.27+2255C>G | ClinVar dbSNP |
6 | g.116120200C>T | CA365386418 | COL10A1,NT5DC1 | c.529+2255C>T (n.529+2255C>T) c.1916G>A (p.Ser639Asn) c.27+2255C>T | gnomAD v4 |
6 | g.116120201T>A | CA365386419 | COL10A1,NT5DC1 | c.529+2256T>A (n.529+2256T>A) c.1915A>T (p.Ser639Cys) c.27+2256T>A | |
6 | g.116120201T>C | CA365386421 | COL10A1,NT5DC1 | c.529+2256T>C (n.529+2256T>C) c.1915A>G (p.Ser639Gly) c.27+2256T>C | |
6 | g.116120201T>G | CA365386423 | COL10A1,NT5DC1 | c.529+2256T>G (n.529+2256T>G) c.1915A>C (p.Ser639Arg) c.27+2256T>G | |
6 | g.116120201_116120202delinsTC | CA1657093230 | COL10A1,NT5DC1 | c.529+2256_529+2257delinsTC (n.529+2256_529+2257delinsTC) c.1914_1915delinsGA (p.Gly638=) c.27+2256_27+2257delinsTC | |
6 | g.116120201_116120212delinsA | CA2695206887 | COL10A1,NT5DC1 | c.529+2256_529+2267delinsA (n.529+2256_529+2267delinsA) c.1904_1915delinsT (p.Gln635LeufsTer10) c.27+2256_27+2267delinsA | |
6 | g.116120202C>A | CA451899416 | COL10A1,NT5DC1 | c.529+2257C>A (n.529+2257C>A) c.1914G>T (p.Gly638=) c.27+2257C>A | |
6 | g.116120202C>G | CA451899417 | COL10A1,NT5DC1 | c.529+2257C>G (n.529+2257C>G) c.1914G>C (p.Gly638=) c.27+2257C>G | |
6 | g.116120202C>T | CA451899418 | COL10A1,NT5DC1 | c.529+2257C>T (n.529+2257C>T) c.1914G>A (p.Gly638=) c.27+2257C>T | COSMIC |
6 | g.116120204del | CA915943615 | COL10A1,NT5DC1 | c.529+2259del (n.529+2259del) c.1914del (p.Ser639ValfsTer?) c.27+2259del | ClinVar dbSNP |
6 | g.116120203C>A | CA365386424 | COL10A1,NT5DC1 | c.529+2258C>A (n.529+2258C>A) c.1913G>T (p.Gly638Val) c.27+2258C>A | |
6 | g.116120203C= | CA1657093231 | COL10A1,NT5DC1 | c.529+2258C= (n.529+2258C=) c.1913G= (p.Gly638=) c.27+2258C= | |
6 | g.116120203C>G | CA365386427 | COL10A1,NT5DC1 | c.529+2258C>G (n.529+2258C>G) c.1913G>C (p.Gly638Ala) c.27+2258C>G | |
6 | g.116120203C>T | CA365386426 | COL10A1,NT5DC1 | c.529+2258C>T (n.529+2258C>T) c.1913G>A (p.Gly638Glu) c.27+2258C>T | dbSNP |
6 | g.116120204C>A | CA365386428 | COL10A1,NT5DC1 | c.529+2259C>A (n.529+2259C>A) c.1912G>T (p.Gly638Trp) c.27+2259C>A | |
6 | g.116120204C>G | CA365386430 | COL10A1,NT5DC1 | c.529+2259C>G (n.529+2259C>G) c.1912G>C (p.Gly638Arg) c.27+2259C>G | |
6 | g.116120204C>T | CA365386431 | COL10A1,NT5DC1 | c.529+2259C>T (n.529+2259C>T) c.1912G>A (p.Gly638Arg) c.27+2259C>T | |
6 | g.116120205T>A | CA451899419 | COL10A1,NT5DC1 | c.529+2260T>A (n.529+2260T>A) c.1911A>T (p.Ser637=) c.27+2260T>A | gnomAD v4 |
6 | g.116120205T>C | CA451899420 | COL10A1,NT5DC1 | c.529+2260T>C (n.529+2260T>C) c.1911A>G (p.Ser637=) c.27+2260T>C | |
6 | g.116120205T>G | CA451899422 | COL10A1,NT5DC1 | c.529+2260T>G (n.529+2260T>G) c.1911A>C (p.Ser637=) c.27+2260T>G | |
6 | g.116120206G>A | CA365386432 | COL10A1,NT5DC1 | c.529+2261G>A (n.529+2261G>A) c.1910C>T (p.Ser637Leu) c.27+2261G>A | |
6 | g.116120206G>C | CA365386433 | COL10A1,NT5DC1 | c.529+2261G>C (n.529+2261G>C) c.1910C>G (p.Ser637Ter) c.27+2261G>C | |
6 | g.116120206G>T | CA365386434 | COL10A1,NT5DC1 | c.529+2261G>T (n.529+2261G>T) c.1910C>A (p.Ser637Ter) c.27+2261G>T | |
6 | g.116120207A>C | CA365386435 | COL10A1,NT5DC1 | c.529+2262A>C (n.529+2262A>C) c.1909T>G (p.Ser637Ala) c.27+2262A>C | gnomAD v4 |
6 | g.116120207A>G | CA365386436 | COL10A1,NT5DC1 | c.529+2262A>G (n.529+2262A>G) c.1909T>C (p.Ser637Pro) c.27+2262A>G | |
6 | g.116120207A>T | CA365386437 | COL10A1,NT5DC1 | c.529+2262A>T (n.529+2262A>T) c.1909T>A (p.Ser637Thr) c.27+2262A>T | |
6 | g.116120208del | CA2695206888 | COL10A1,NT5DC1 | c.529+2263del (n.529+2263del) c.1909del (p.Ser637GlnfsTer?) c.27+2263del |