| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.88845573_88845576del | CA2497445971 | ACAN | c.1120_1123del (p.Thr374Ter) | ClinVar dbSNP |
| 15 | g.88845574C>A | CA393709421 | ACAN | c.1121C>A (p.Thr374Lys) | |
| 15 | g.88845574C>G | CA7719472 | ACAN | c.1121C>G (p.Thr374Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88845574C>T | CA393709422 | ACAN | c.1121C>T (p.Thr374Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88845575A>C | CA492061395 | ACAN | c.1122A>C (p.Thr374=) | dbSNP |
| 15 | g.88845575A>G | CA492061397 | ACAN | c.1122A>G (p.Thr374=) | |
| 15 | g.88845575A>T | CA492061399 | ACAN | c.1122A>T (p.Thr374=) | |
| 15 | g.88845576G>A | CA393709423 | ACAN | c.1123G>A (p.Val375Met) | |
| 15 | g.88845576G>C | CA393709424 | ACAN | c.1123G>C (p.Val375Leu) | |
| 15 | g.88845576G>T | CA393709425 | ACAN | c.1123G>T (p.Val375Leu) | |
| 15 | g.88845577T>A | CA393709427 | ACAN | c.1124T>A (p.Val375Glu) | |
| 15 | g.88845577T>C | CA7719473 | ACAN | c.1124T>C (p.Val375Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88845577T>G | CA393709426 | ACAN | c.1124T>G (p.Val375Gly) | |
| 15 | g.88845578G>A | CA492284187 | ACAN | c.1125G>A (p.Val375=) | |
| 15 | g.88845578G>C | CA492284189 | ACAN | c.1125G>C (p.Val375=) | gnomAD v4 |
| 15 | g.88845578G>T | CA492284188 | ACAN | c.1125G>T (p.Val375=) | |
| 15 | g.88845579A>C | CA393709428 | ACAN | c.1126A>C (p.Thr376Pro) | dbSNP |
| 15 | g.88845579A>G | CA393709429 | ACAN | c.1126A>G (p.Thr376Ala) | |
| 15 | g.88845579A>T | CA393709430 | ACAN | c.1126A>T (p.Thr376Ser) | |
| 15 | g.88845580C>A | CA393709431 | ACAN | c.1127C>A (p.Thr376Asn) | |
| 15 | g.88845580C>G | CA7719474 | ACAN | c.1127C>G (p.Thr376Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88845580C>T | CA393709432 | ACAN | c.1127C>T (p.Thr376Ile) | |
| 15 | g.88845581C>A | CA492284190 | ACAN | c.1128C>A (p.Thr376=) | |
| 15 | g.88845581C>G | CA492284191 | ACAN | c.1128C>G (p.Thr376=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88845581C>T | CA492284193 | ACAN | c.1128C>T (p.Thr376=) | COSMIC COSMIC |
| 15 | g.88845582T>A | CA393709433 | ACAN | c.1129T>A (p.Trp377Arg) | |
| 15 | g.88845582T>C | CA7719475 | ACAN | c.1129T>C (p.Trp377Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88845582T>G | CA393709434 | ACAN | c.1129T>G (p.Trp377Gly) | |
| 15 | g.88845583G>A | CA393709435 | ACAN | c.1130G>A (p.Trp377Ter) | ClinVar dbSNP |
| 15 | g.88845583G>C | CA393709436 | ACAN | c.1130G>C (p.Trp377Ser) | |
| 15 | g.88845583G>T | CA393709437 | ACAN | c.1130G>T (p.Trp377Leu) | |
| 15 | g.88845584G>A | CA393709440 | ACAN | c.1131G>A (p.Trp377Ter) | |
| 15 | g.88845584G>C | CA393709438 | ACAN | c.1131G>C (p.Trp377Cys) | |
| 15 | g.88845584G>T | CA393709439 | ACAN | c.1131G>T (p.Trp377Cys) | |
| 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) |