Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.116120185A>C | CA365386377 | COL10A1,NT5DC1 | c.529+2240A>C (n.529+2240A>C) c.1931T>G (p.Leu644Arg) c.27+2240A>C | |
6 | g.116120185A>G | CA365386378 | COL10A1,NT5DC1 | c.529+2240A>G (n.529+2240A>G) c.1931T>C (p.Leu644Pro) c.27+2240A>G | |
6 | g.116120185A>T | CA365386379 | COL10A1,NT5DC1 | c.529+2240A>T (n.529+2240A>T) c.1931T>A (p.Leu644His) c.27+2240A>T | |
6 | g.116120186G>A | CA365386382 | COL10A1,NT5DC1 | c.529+2241G>A (n.529+2241G>A) c.1930C>T (p.Leu644Phe) c.27+2241G>A | |
6 | g.116120186G>C | CA365386381 | COL10A1,NT5DC1 | c.529+2241G>C (n.529+2241G>C) c.1930C>G (p.Leu644Val) c.27+2241G>C | |
6 | g.116120186G= | CA1657093222 | COL10A1,NT5DC1 | c.529+2241G= (n.529+2241G=) c.1930C= (p.Leu644=) c.27+2241G= | |
6 | g.116120186G>T | CA365386380 | COL10A1,NT5DC1 | c.529+2241G>T (n.529+2241G>T) c.1930C>A (p.Leu644Ile) c.27+2241G>T | dbSNP gnomAD v4 |
6 | g.116120187A>C | CA365386383 | COL10A1,NT5DC1 | c.529+2242A>C (n.529+2242A>C) c.1929T>G (p.Asp643Glu) c.27+2242A>C | |
6 | g.116120187A>G | CA451899395 | COL10A1,NT5DC1 | c.529+2242A>G (n.529+2242A>G) c.1929T>C (p.Asp643=) c.27+2242A>G | gnomAD v4 |
6 | g.116120187A>T | CA365386384 | COL10A1,NT5DC1 | c.529+2242A>T (n.529+2242A>T) c.1929T>A (p.Asp643Glu) c.27+2242A>T | |
6 | g.116120188T>A | CA365386385 | COL10A1,NT5DC1 | c.529+2243T>A (n.529+2243T>A) c.1928A>T (p.Asp643Val) c.27+2243T>A | |
6 | g.116120188T>C | CA365386386 | COL10A1,NT5DC1 | c.529+2243T>C (n.529+2243T>C) c.1928A>G (p.Asp643Gly) c.27+2243T>C | |
6 | g.116120188T>G | CA3968090 | COL10A1,NT5DC1 | c.529+2243T>G (n.529+2243T>G) c.1928A>C (p.Asp643Ala) c.27+2243T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116120188T= | CA1657093223 | COL10A1,NT5DC1 | c.529+2243T= (n.529+2243T=) c.1928A= (p.Asp643=) c.27+2243T= | |
6 | g.116120189C>A | CA365386387 | COL10A1,NT5DC1 | c.529+2244C>A (n.529+2244C>A) c.1927G>T (p.Asp643Tyr) c.27+2244C>A | |
6 | g.116120189C= | CA1657093224 | COL10A1,NT5DC1 | c.529+2244C= (n.529+2244C=) c.1927G= (p.Asp643=) c.27+2244C= | |
6 | g.116120189C>G | CA3968092 | COL10A1,NT5DC1 | c.529+2244C>G (n.529+2244C>G) c.1927G>C (p.Asp643His) c.27+2244C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116120189C>T | CA3968091 | COL10A1,NT5DC1 | c.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 |
6 | g.116120190G>A | CA451899399 | COL10A1,NT5DC1 | c.529+2245G>A (n.529+2245G>A) c.1926C>T (p.Ile642=) c.27+2245G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.116120190G>C | CA365386389 | COL10A1,NT5DC1 | c.529+2245G>C (n.529+2245G>C) c.1926C>G (p.Ile642Met) c.27+2245G>C | |
6 | g.116120190G= | CA1657093225 | COL10A1,NT5DC1 | c.529+2245G= (n.529+2245G=) c.1926C= (p.Ile642=) c.27+2245G= | |
6 | g.116120190G>T | CA451899400 | COL10A1,NT5DC1 | c.529+2245G>T (n.529+2245G>T) c.1926C>A (p.Ile642=) c.27+2245G>T | COSMIC |
6 | g.116120191A>C | CA365386391 | COL10A1,NT5DC1 | c.529+2246A>C (n.529+2246A>C) c.1925T>G (p.Ile642Ser) c.27+2246A>C | ClinVar |
6 | g.116120191A>G | CA365386392 | COL10A1,NT5DC1 | c.529+2246A>G (n.529+2246A>G) c.1925T>C (p.Ile642Thr) c.27+2246A>G | |
6 | g.116120191A>T | CA365386393 | COL10A1,NT5DC1 | c.529+2246A>T (n.529+2246A>T) c.1925T>A (p.Ile642Asn) c.27+2246A>T | |
6 | g.116120192T>A | CA365386394 | COL10A1,NT5DC1 | c.529+2247T>A (n.529+2247T>A) c.1924A>T (p.Ile642Phe) c.27+2247T>A | |
6 | g.116120192T>C | CA365386395 | COL10A1,NT5DC1 | c.529+2247T>C (n.529+2247T>C) c.1924A>G (p.Ile642Val) c.27+2247T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116120192T>G | CA365386397 | COL10A1,NT5DC1 | c.529+2247T>G (n.529+2247T>G) c.1924A>C (p.Ile642Leu) c.27+2247T>G | |
6 | g.116120192T= | CA1657093226 | COL10A1,NT5DC1 | c.529+2247T= (n.529+2247T=) c.1924A= (p.Ile642=) c.27+2247T= | |
6 | g.116120193G>A | CA451899404 | COL10A1,NT5DC1 | c.529+2248G>A (n.529+2248G>A) c.1923C>T (p.Ile641=) c.27+2248G>A | |
6 | g.116120193G>C | CA365386398 | COL10A1,NT5DC1 | c.529+2248G>C (n.529+2248G>C) c.1923C>G (p.Ile641Met) c.27+2248G>C | gnomAD v4 |
6 | g.116120193G>T | CA451899405 | COL10A1,NT5DC1 | c.529+2248G>T (n.529+2248G>T) c.1923C>A (p.Ile641=) c.27+2248G>T | |
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 |