Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.88845585C>A | CA7719476 | ACAN | c.1132C>A (p.Pro378Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.88845585C>G | CA393709441 | ACAN | c.1132C>G (p.Pro378Ala) | |
15 | g.88845585C>T | CA393709442 | ACAN | c.1132C>T (p.Pro378Ser) | gnomAD v4 |
15 | g.88845586C>A | CA393709443 | ACAN | c.1133C>A (p.Pro378His) | |
15 | g.88845586C>G | CA393709444 | ACAN | c.1133C>G (p.Pro378Arg) | |
15 | g.88845586C>T | CA393709445 | ACAN | c.1133C>T (p.Pro378Leu) | |
15 | g.88845587T>A | CA492284198 | ACAN | c.1134T>A (p.Pro378=) | |
15 | g.88845587T>C | CA492284195 | ACAN | c.1134T>C (p.Pro378=) | |
15 | g.88845587T>G | CA492284197 | ACAN | c.1134T>G (p.Pro378=) | |
15 | g.88845588G>A | CA7719477 | ACAN | c.1135G>A (p.Asp379Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.88845588G>C | CA393709446 | ACAN | c.1135G>C (p.Asp379His) | |
15 | g.88845588G>T | CA393709447 | ACAN | c.1135G>T (p.Asp379Tyr) | gnomAD v4 |
15 | g.88845589A>C | CA393709448 | ACAN | c.1136A>C (p.Asp379Ala) | |
15 | g.88845589A>G | CA393709449 | ACAN | c.1136A>G (p.Asp379Gly) | |
15 | g.88845589A>T | CA393709450 | ACAN | c.1136A>T (p.Asp379Val) | |
15 | g.88845590C>A | CA393709451 | ACAN | c.1137C>A (p.Asp379Glu) | |
15 | g.88845590C>G | CA393709452 | ACAN | c.1137C>G (p.Asp379Glu) | |
15 | g.88845590C>T | CA492284201 | ACAN | c.1137C>T (p.Asp379=) | dbSNP |
15 | g.88845591A>C | CA393709453 | ACAN | c.1138A>C (p.Met380Leu) | gnomAD v4 |
15 | g.88845591A>G | CA393709455 | ACAN | c.1138A>G (p.Met380Val) | gnomAD v4 |
15 | g.88845591A>T | CA393709454 | ACAN | c.1138A>T (p.Met380Leu) | |
15 | g.88845592T>A | CA393709456 | ACAN | c.1139T>A (p.Met380Lys) | |
15 | g.88845592T>C | CA393709457 | ACAN | c.1139T>C (p.Met380Thr) | |
15 | g.88845592T>G | CA393709458 | ACAN | c.1139T>G (p.Met380Arg) | gnomAD v4 |
15 | g.88845593G>A | CA274470509 | ACAN | c.1140G>A (p.Met380Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.88845593G>C | CA393709459 | ACAN | c.1140G>C (p.Met380Ile) | |
15 | g.88845593G>T | CA393709460 | ACAN | c.1140G>T (p.Met380Ile) | |
15 | g.88845594G>A | CA393709461 | ACAN | c.1141G>A (p.Glu381Lys) | |
15 | g.88845594G>C | CA393709462 | ACAN | c.1141G>C (p.Glu381Gln) | gnomAD v4 |
15 | g.88845594G>T | CA393709463 | ACAN | c.1141G>T (p.Glu381Ter) | |
15 | g.88845595A>C | CA393709464 | ACAN | c.1142A>C (p.Glu381Ala) | |
15 | g.88845595A>G | CA393709465 | ACAN | c.1142A>G (p.Glu381Gly) | |
15 | g.88845595A>T | CA393709466 | ACAN | c.1142A>T (p.Glu381Val) | |
15 | g.88845596G>A | CA492284208 | ACAN | c.1143G>A (p.Glu381=) | |
15 | g.88845596G>C | CA393709467 | ACAN | c.1143G>C (p.Glu381Asp) | dbSNP gnomAD v2 |
15 | g.88845596G>T | CA393709468 | ACAN | c.1143G>T (p.Glu381Asp) | |
15 | g.88845597C>A | CA393709469 | ACAN | c.1144C>A (p.Leu382Met) | |
15 | g.88845597C>G | CA393709470 | ACAN | c.1144C>G (p.Leu382Val) | |
15 | g.88845597C>T | CA492284211 | ACAN | c.1144C>T (p.Leu382=) | gnomAD v4 |
15 | g.88845598T>A | CA393709471 | ACAN | c.1145T>A (p.Leu382Gln) | |
15 | g.88845598T>C | CA393709472 | ACAN | c.1145T>C (p.Leu382Pro) | ClinVar dbSNP |
15 | g.88845598T>G | CA393709473 | ACAN | c.1145T>G (p.Leu382Arg) | |
15 | g.88845599G>A | CA492284215 | ACAN | c.1146G>A (p.Leu382=) | |
15 | g.88845599G>C | CA492284213 | ACAN | c.1146G>C (p.Leu382=) | |
15 | g.88845599G>T | CA492284212 | ACAN | c.1146G>T (p.Leu382=) | |
15 | g.88845600C>A | CA393709474 | ACAN | c.1147C>A (p.Pro383Thr) | |
15 | g.88845600C>G | CA393709475 | ACAN | c.1147C>G (p.Pro383Ala) | |
15 | g.88845600C>T | CA393709476 | ACAN | c.1147C>T (p.Pro383Ser) | |
15 | g.88845601C>A | CA274470515 | ACAN | c.1148C>A (p.Pro383Gln) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.88845601C>G | CA393709477 | ACAN | c.1148C>G (p.Pro383Arg) |