| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.72123594_72123595delinsAG | CA2273926354 | SOX9 | c.737_738delinsAG (p.Gln246=) | |
| 17 | g.72123595del | CA16620597 | SOX9 | c.738del (p.Gln246HisfsTer7) | ClinVar dbSNP |
| 17 | g.72123595G>A | CA501351998 | SOX9 | c.738G>A (p.Gln246=) | dbSNP |
| 17 | g.72123595G>C | CA400866943 | SOX9 | c.738G>C (p.Gln246His) | dbSNP gnomAD v4 |
| 17 | g.72123595G>T | CA400866944 | SOX9 | c.738G>T (p.Gln246His) | gnomAD v4 |
| 17 | g.72123596C>A | CA8739014 | SOX9 | c.739C>A (p.Pro247Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72123596C= | CA2273926356 | SOX9 | c.739C= (p.Pro247=) | |
| 17 | g.72123596C>G | CA400866946 | SOX9 | c.739C>G (p.Pro247Ala) | dbSNP |
| 17 | g.72123596C>T | CA400866945 | SOX9 | c.739C>T (p.Pro247Ser) | dbSNP |
| 17 | g.72123597C>A | CA400866947 | SOX9 | c.740C>A (p.Pro247Gln) | |
| 17 | g.72123597C= | CA2273926357 | SOX9 | c.740C= (p.Pro247=) | |
| 17 | g.72123597C>G | CA400866948 | SOX9 | c.740C>G (p.Pro247Arg) | dbSNP |
| 17 | g.72123597C>T | CA400866949 | SOX9 | c.740C>T (p.Pro247Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123598_72123610del | CA2580060342 | SOX9 | c.741_753del (p.Gly248Ter) | |
| 17 | g.72123598G>A | CA501351999 | SOX9 | c.741G>A (p.Pro247=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72123598G>C | CA501352000 | SOX9 | c.741G>C (p.Pro247=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.72123598G= | CA2273926358 | SOX9 | c.741G= (p.Pro247=) | |
| 17 | g.72123598G>T | CA501352001 | SOX9 | c.741G>T (p.Pro247=) | dbSNP COSMIC |
| 17 | g.72123599G>A | CA400866950 | SOX9 | c.742G>A (p.Gly248Ser) | dbSNP |
| 17 | g.72123599G>C | CA400866951 | SOX9 | c.742G>C (p.Gly248Arg) | dbSNP |
| 17 | g.72123599G>T | CA400866952 | SOX9 | c.742G>T (p.Gly248Cys) | dbSNP |
| 17 | g.72123600G>A | CA400866953 | SOX9 | c.743G>A (p.Gly248Asp) | dbSNP gnomAD v4 |
| 17 | g.72123600G>C | CA400866955 | SOX9 | c.743G>C (p.Gly248Ala) | dbSNP |
| 17 | g.72123600G>T | CA400866954 | SOX9 | c.743G>T (p.Gly248Val) | COSMIC |
| 17 | g.72123600_72123601dup | CA645598914 | SOX9 | c.743_744dup (p.Lys249AlafsTer5) | COSMIC |
| 17 | g.72123601C>A | CA501352002 | SOX9 | c.744C>A (p.Gly248=) | dbSNP |
| 17 | g.72123601C= | CA2273926359 | SOX9 | c.744C= (p.Gly248=) | |
| 17 | g.72123601C>G | CA501352003 | SOX9 | c.744C>G (p.Gly248=) | dbSNP |
| 17 | g.72123601C>T | CA501352004 | SOX9 | c.744C>T (p.Gly248=) | dbSNP |
| 17 | g.72123602A= | CA2273926360 | SOX9 | c.745A= (p.Lys249=) | |
| 17 | g.72123602A>C | CA400866956 | SOX9 | c.745A>C (p.Lys249Gln) | dbSNP gnomAD v4 |
| 17 | g.72123602A>G | CA400866957 | SOX9 | c.745A>G (p.Lys249Glu) | dbSNP |
| 17 | g.72123602A>T | CA400866958 | SOX9 | c.745A>T (p.Lys249Ter) | |
| 17 | g.72123603A>C | CA400866959 | SOX9 | c.746A>C (p.Lys249Thr) | |
| 17 | g.72123603A>G | CA400866960 | SOX9 | c.746A>G (p.Lys249Arg) | dbSNP |
| 17 | g.72123603A>T | CA400866961 | SOX9 | c.746A>T (p.Lys249Met) | dbSNP |
| 17 | g.72123604G>A | CA501352006 | SOX9 | c.747G>A (p.Lys249=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.72123604G>C | CA400866962 | SOX9 | c.747G>C (p.Lys249Asn) | gnomAD v4 |
| 17 | g.72123604G= | CA2273926361 | SOX9 | c.747G= (p.Lys249=) | |
| 17 | g.72123604G>T | CA400866963 | SOX9 | c.747G>T (p.Lys249Asn) | dbSNP |
| 17 | g.72123605G>A | CA400866964 | SOX9 | c.748G>A (p.Ala250Thr) | dbSNP |
| 17 | g.72123605G>C | CA400866965 | SOX9 | c.748G>C (p.Ala250Pro) | dbSNP |
| 17 | g.72123605G>T | CA400866966 | SOX9 | c.748G>T (p.Ala250Ser) | |
| 17 | g.72123606C>A | CA400866967 | SOX9 | c.749C>A (p.Ala250Asp) | dbSNP |
| 17 | g.72123606C>G | CA400866969 | SOX9 | c.749C>G (p.Ala250Gly) | dbSNP |
| 17 | g.72123606C>T | CA400866968 | SOX9 | c.749C>T (p.Ala250Val) | dbSNP |
| 17 | g.72123607T>A | CA501352009 | SOX9 | c.750T>A (p.Ala250=) | dbSNP |
| 17 | g.72123607T>C | CA501352007 | SOX9 | c.750T>C (p.Ala250=) | dbSNP |
| 17 | g.72123607T>G | CA501352008 | SOX9 | c.750T>G (p.Ala250=) | dbSNP |
| 17 | g.72123608G>A | CA400866970 | SOX9 | c.751G>A (p.Asp251Asn) | dbSNP |