| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.88845674C>A | CA492284274 | ACAN | c.1221C>A (p.Val407=) | |
| 15 | g.88845674C= | CA2581198542 | ACAN | c.1221C= (p.Val407=) | |
| 15 | g.88845674C>G | CA492284275 | ACAN | c.1221C>G (p.Val407=) | |
| 15 | g.88845674C>T | CA7719497 | ACAN | c.1221C>T (p.Val407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88845675T>A | CA393709618 | ACAN | c.1222T>A (p.Ser408Thr) | |
| 15 | g.88845675T>C | CA393709621 | ACAN | c.1222T>C (p.Ser408Pro) | |
| 15 | g.88845675T>G | CA393709619 | ACAN | c.1222T>G (p.Ser408Ala) | gnomAD v4 |
| 15 | g.88845676C>A | CA393709622 | ACAN | c.1223C>A (p.Ser408Tyr) | |
| 15 | g.88845676C>G | CA7719498 | ACAN | c.1223C>G (p.Ser408Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88845676C>T | CA393709623 | ACAN | c.1223C>T (p.Ser408Phe) | dbSNP gnomAD v2 COSMIC COSMIC |
| 15 | g.88845680del | CA658798448 | ACAN | c.1227del (p.Ser410ValfsTer15) | ClinVar dbSNP |
| 15 | g.88845677C>A | CA274470646 | ACAN | c.1224C>A (p.Ser408=) | dbSNP |
| 15 | g.88845677C>G | CA492284276 | ACAN | c.1224C>G (p.Ser408=) | |
| 15 | g.88845677C>T | CA492284277 | ACAN | c.1224C>T (p.Ser408=) | gnomAD v4 |
| 15 | g.88845678C>A | CA393709624 | ACAN | c.1225C>A (p.Pro409Thr) | |
| 15 | g.88845678C>G | CA393709625 | ACAN | c.1225C>G (p.Pro409Ala) | |
| 15 | g.88845678C>T | CA393709626 | ACAN | c.1225C>T (p.Pro409Ser) | dbSNP gnomAD v4 |
| 15 | g.88845679C>A | CA393709627 | ACAN | c.1226C>A (p.Pro409His) | |
| 15 | g.88845679C>G | CA393709628 | ACAN | c.1226C>G (p.Pro409Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88845679C>T | CA7719499 | ACAN | c.1226C>T (p.Pro409Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88845680C>A | CA492284278 | ACAN | c.1227C>A (p.Pro409=) | |
| 15 | g.88845680C>G | CA492284279 | ACAN | c.1227C>G (p.Pro409=) | gnomAD v4 |
| 15 | g.88845680C>T | CA492284280 | ACAN | c.1227C>T (p.Pro409=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88845681A>C | CA393709629 | ACAN | c.1228A>C (p.Ser410Arg) | |
| 15 | g.88845681A>G | CA7719500 | ACAN | c.1228A>G (p.Ser410Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88845681A>T | CA393709630 | ACAN | c.1228A>T (p.Ser410Cys) | |
| 15 | g.88845682G>A | CA393709631 | ACAN | c.1229G>A (p.Ser410Asn) | |
| 15 | g.88845682G>C | CA393709632 | ACAN | c.1229G>C (p.Ser410Thr) | gnomAD v4 |
| 15 | g.88845682G>T | CA393709633 | ACAN | c.1229G>T (p.Ser410Ile) | |
| 15 | g.88845683T>A | CA393709635 | ACAN | c.1230T>A (p.Ser410Arg) | gnomAD v4 |
| 15 | g.88845683T>C | CA7719501 | ACAN | c.1230T>C (p.Ser410=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88845683T>G | CA393709634 | ACAN | c.1230T>G (p.Ser410Arg) | |
| 15 | g.88845684C>A | CA393709636 | ACAN | c.1231C>A (p.Pro411Thr) | |
| 15 | g.88845684C>G | CA393709637 | ACAN | c.1231C>G (p.Pro411Ala) | gnomAD v4 |
| 15 | g.88845684C>T | CA7719502 | ACAN | c.1231C>T (p.Pro411Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88845685C>A | CA393709638 | ACAN | c.1232C>A (p.Pro411His) | |
| 15 | g.88845685C>G | CA393709639 | ACAN | c.1232C>G (p.Pro411Arg) | |
| 15 | g.88845685C>T | CA393709640 | ACAN | c.1232C>T (p.Pro411Leu) | |
| 15 | g.88845686C>A | CA492284281 | ACAN | c.1233C>A (p.Pro411=) | |
| 15 | g.88845686C>G | CA492284282 | ACAN | c.1233C>G (p.Pro411=) | |
| 15 | g.88845686C>T | CA492284283 | ACAN | c.1233C>T (p.Pro411=) | COSMIC COSMIC |
| 15 | g.88845687C>A | CA393709641 | ACAN | c.1234C>A (p.Leu412Met) | |
| 15 | g.88845687C>G | CA393709642 | ACAN | c.1234C>G (p.Leu412Val) | |
| 15 | g.88845687C>T | CA492284284 | ACAN | c.1234C>T (p.Leu412=) | gnomAD v4 |
| 15 | g.88845688T>A | CA393709643 | ACAN | c.1235T>A (p.Leu412Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88845688T>C | CA393709644 | ACAN | c.1235T>C (p.Leu412Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88845688T>G | CA393709645 | ACAN | c.1235T>G (p.Leu412Arg) | |
| 15 | g.88845689G>A | CA7719503 | ACAN | c.1236G>A (p.Leu412=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.88845689G>C | CA492284285 | ACAN | c.1236G>C (p.Leu412=) | |
| 15 | g.88845689G>T | CA492284286 | ACAN | c.1236G>T (p.Leu412=) |