Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.88859008T>A | CA492287681 | ACAN | c.6423T>A (p.Leu2141=) c.6366T>A (p.Leu2122=) | dbSNP |
15 | g.88859008T>C | CA7720399 | ACAN | c.6423T>C (p.Leu2141=) c.6366T>C (p.Leu2122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.88859008T>G | CA492287680 | ACAN | c.6423T>G (p.Leu2141=) c.6366T>G (p.Leu2122=) | |
15 | g.88859008T= | CA2194343620 | ACAN | c.6423T= (p.Leu2141=) c.6366T= (p.Leu2122=) | |
15 | g.88859009G>A | CA7720400 | ACAN | c.6424G>A (p.Glu2142Lys) c.6367G>A (p.Glu2123Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.88859009G>C | CA393727224 | ACAN | c.6424G>C (p.Glu2142Gln) c.6367G>C (p.Glu2123Gln) | |
15 | g.88859009G= | CA2194343621 | ACAN | c.6424G= (p.Glu2142=) c.6367G= (p.Glu2123=) | |
15 | g.88859009G>T | CA393727225 | ACAN | c.6424G>T (p.Glu2142Ter) c.6367G>T (p.Glu2123Ter) | |
15 | g.88859010A>C | CA393727228 | ACAN | c.6425A>C (p.Glu2142Ala) c.6368A>C (p.Glu2123Ala) | |
15 | g.88859010A>G | CA393727226 | ACAN | c.6425A>G (p.Glu2142Gly) c.6368A>G (p.Glu2123Gly) | |
15 | g.88859010A>T | CA393727227 | ACAN | c.6425A>T (p.Glu2142Val) c.6368A>T (p.Glu2123Val) | |
15 | g.88859011G>A | CA492287688 | ACAN | c.6426G>A (p.Glu2142=) c.6369G>A (p.Glu2123=) | dbSNP |
15 | g.88859011G>C | CA393727229 | ACAN | c.6426G>C (p.Glu2142Asp) c.6369G>C (p.Glu2123Asp) | |
15 | g.88859011G= | CA2194343622 | ACAN | c.6426G= (p.Glu2142=) c.6369G= (p.Glu2123=) | |
15 | g.88859011G>T | CA393727230 | ACAN | c.6426G>T (p.Glu2142Asp) c.6369G>T (p.Glu2123Asp) | |
15 | g.88859012A= | CA2194343623 | ACAN | c.6427A= (p.Arg2143=) c.6370A= (p.Arg2124=) | |
15 | g.88859012A>C | CA492287689 | ACAN | c.6427A>C (p.Arg2143=) c.6370A>C (p.Arg2124=) | |
15 | g.88859012A>G | CA274485830 | ACAN | c.6427A>G (p.Arg2143Gly) c.6370A>G (p.Arg2124Gly) | dbSNP |
15 | g.88859012A>T | CA393727231 | ACAN | c.6427A>T (p.Arg2143Ter) c.6370A>T (p.Arg2124Ter) | |
15 | g.88859013G>A | CA393727232 | ACAN | c.6428G>A (p.Arg2143Lys) c.6371G>A (p.Arg2124Lys) | |
15 | g.88859013G>C | CA393727233 | ACAN | c.6428G>C (p.Arg2143Thr) c.6371G>C (p.Arg2124Thr) | |
15 | g.88859013G>T | CA393727234 | ACAN | c.6428G>T (p.Arg2143Ile) c.6371G>T (p.Arg2124Ile) | |
15 | g.88859014A>C | CA393727235 | ACAN | c.6429A>C (p.Arg2143Ser) c.6372A>C (p.Arg2124Ser) | |
15 | g.88859014A>G | CA492287693 | ACAN | c.6429A>G (p.Arg2143=) c.6372A>G (p.Arg2124=) | |
15 | g.88859014A>T | CA393727236 | ACAN | c.6429A>T (p.Arg2143Ser) c.6372A>T (p.Arg2124Ser) | |
15 | g.88859015T>A | CA393727237 | ACAN | c.6430T>A (p.Ser2144Thr) c.6373T>A (p.Ser2125Thr) | |
15 | g.88859015T>C | CA393727238 | ACAN | c.6430T>C (p.Ser2144Pro) c.6373T>C (p.Ser2125Pro) | |
15 | g.88859015T>G | CA393727239 | ACAN | c.6430T>G (p.Ser2144Ala) c.6373T>G (p.Ser2125Ala) | |
15 | g.88859016C>A | CA393727241 | ACAN | c.6431C>A (p.Ser2144Tyr) c.6374C>A (p.Ser2125Tyr) | |
15 | g.88859016C= | CA2194343624 | ACAN | c.6431C= (p.Ser2144=) c.6374C= (p.Ser2125=) | |
15 | g.88859016C>G | CA393727242 | ACAN | c.6431C>G (p.Ser2144Cys) c.6374C>G (p.Ser2125Cys) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.88859016C>T | CA393727240 | ACAN | c.6431C>T (p.Ser2144Phe) c.6374C>T (p.Ser2125Phe) | dbSNP COSMIC COSMIC |
15 | g.88859017C>A | CA492287695 | ACAN | c.6432C>A (p.Ser2144=) c.6375C>A (p.Ser2125=) | |
15 | g.88859017C= | CA2194343625 | ACAN | c.6432C= (p.Ser2144=) c.6375C= (p.Ser2125=) | |
15 | g.88859017C>G | CA492287697 | ACAN | c.6432C>G (p.Ser2144=) c.6375C>G (p.Ser2125=) | |
15 | g.88859017C>T | CA492287698 | ACAN | c.6432C>T (p.Ser2144=) c.6375C>T (p.Ser2125=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.88859018T>A | CA393727243 | ACAN | c.6433T>A (p.Ser2145Thr) c.6376T>A (p.Ser2126Thr) | |
15 | g.88859018T>C | CA393727244 | ACAN | c.6433T>C (p.Ser2145Pro) c.6376T>C (p.Ser2126Pro) | |
15 | g.88859018T>G | CA393727245 | ACAN | c.6433T>G (p.Ser2145Ala) c.6376T>G (p.Ser2126Ala) | |
15 | g.88859019C>A | CA393727246 | ACAN | c.6434C>A (p.Ser2145Tyr) c.6377C>A (p.Ser2126Tyr) | |
15 | g.88859019C= | CA2194343626 | ACAN | c.6434C= (p.Ser2145=) c.6377C= (p.Ser2126=) | |
15 | g.88859019C>G | CA393727247 | ACAN | c.6434C>G (p.Ser2145Cys) c.6377C>G (p.Ser2126Cys) | gnomAD v4 |
15 | g.88859019C>T | CA7720401 | ACAN | c.6434C>T (p.Ser2145Phe) c.6377C>T (p.Ser2126Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.88859020T>A | CA492287701 | ACAN | c.6435T>A (p.Ser2145=) c.6378T>A (p.Ser2126=) | |
15 | g.88859020T>C | CA7720402 | ACAN | c.6435T>C (p.Ser2145=) c.6378T>C (p.Ser2126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.88859020T>G | CA492287702 | ACAN | c.6435T>G (p.Ser2145=) c.6378T>G (p.Ser2126=) | |
15 | g.88859020T= | CA2194343627 | ACAN | c.6435T= (p.Ser2145=) c.6378T= (p.Ser2126=) | |
15 | g.88859021G>A | CA393727248 | ACAN | c.6436G>A (p.Gly2146Ser) c.6379G>A (p.Gly2127Ser) | dbSNP |
15 | g.88859021G>C | CA393727249 | ACAN | c.6436G>C (p.Gly2146Arg) c.6379G>C (p.Gly2127Arg) | |
15 | g.88859021G= | CA2194343628 | ACAN | c.6436G= (p.Gly2146=) c.6379G= (p.Gly2127=) |