Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.72122804A= | CA2273925911 | SOX9 | c.517A= (p.Lys173=) | |
17 | g.72122804A>C | CA400866471 | SOX9 | c.517A>C (p.Lys173Gln) | |
17 | g.72122804A>G | CA115585 | SOX9 | c.517A>G (p.Lys173Glu) | ClinVar dbSNP |
17 | g.72122804A>T | CA400866472 | SOX9 | c.517A>T (p.Lys173Ter) | ClinVar dbSNP |
17 | g.72122805A= | CA2273925912 | SOX9 | c.518A= (p.Lys173=) | |
17 | g.72122805A>C | CA400866473 | SOX9 | c.518A>C (p.Lys173Thr) | |
17 | g.72122805A>G | CA293782230 | SOX9 | c.518A>G (p.Lys173Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.72122805A>T | CA400866474 | SOX9 | c.518A>T (p.Lys173Met) | dbSNP |
17 | g.72122805_72122806insATA | CA645598905 | SOX9 | c.518_519insATA (p.Lys174Ter) | COSMIC |
17 | g.72122806G>A | CA241336 | SOX9 | c.519G>A (p.Lys173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72122806G>C | CA400866475 | SOX9 | c.519G>C (p.Lys173Asn) | dbSNP |
17 | g.72122806G= | CA2273925913 | SOX9 | c.519G= (p.Lys173=) | |
17 | g.72122806G>T | CA400866476 | SOX9 | c.519G>T (p.Lys173Asn) | |
17 | g.72122807T>A | CA400866477 | SOX9 | c.520T>A (p.Tyr174Asn) | dbSNP |
17 | g.72122807T>C | CA400866478 | SOX9 | c.520T>C (p.Tyr174His) | dbSNP |
17 | g.72122807T>G | CA400866479 | SOX9 | c.520T>G (p.Tyr174Asp) | dbSNP |
17 | g.72122808A= | CA2273925914 | SOX9 | c.521A= (p.Tyr174=) | |
17 | g.72122808A>C | CA400866480 | SOX9 | c.521A>C (p.Tyr174Ser) | ClinVar dbSNP |
17 | g.72122808A>G | CA400866481 | SOX9 | c.521A>G (p.Tyr174Cys) | |
17 | g.72122808A>T | CA400866482 | SOX9 | c.521A>T (p.Tyr174Phe) | |
17 | g.72122809C>A | CA400866483 | SOX9 | c.522C>A (p.Tyr174Ter) | ClinVar dbSNP |
17 | g.72122809C= | CA2273925915 | SOX9 | c.522C= (p.Tyr174=) | |
17 | g.72122809C>G | CA16620596 | SOX9 | c.522C>G (p.Tyr174Ter) | ClinVar dbSNP |
17 | g.72122809C>T | CA8738934 | SOX9 | c.522C>T (p.Tyr174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72122810C>A | CA400866484 | SOX9 | c.523C>A (p.Gln175Lys) | dbSNP |
17 | g.72122810C>G | CA400866485 | SOX9 | c.523C>G (p.Gln175Glu) | dbSNP |
17 | g.72122810C>T | CA400866486 | SOX9 | c.523C>T (p.Gln175Ter) | dbSNP |
17 | g.72122811A>C | CA400866487 | SOX9 | c.524A>C (p.Gln175Pro) | COSMIC |
17 | g.72122811A>G | CA400866488 | SOX9 | c.524A>G (p.Gln175Arg) | dbSNP |
17 | g.72122811A>T | CA400866489 | SOX9 | c.524A>T (p.Gln175Leu) | dbSNP |
17 | g.72122812G>A | CA501432584 | SOX9 | c.525G>A (p.Gln175=) | dbSNP |
17 | g.72122812G>C | CA400866490 | SOX9 | c.525G>C (p.Gln175His) | dbSNP |
17 | g.72122812G>T | CA400866491 | SOX9 | c.525G>T (p.Gln175His) | |
17 | g.72122813C>A | CA400866492 | SOX9 | c.526C>A (p.Pro176Thr) | ClinVar dbSNP |
17 | g.72122813C= | CA2273925916 | SOX9 | c.526C= (p.Pro176=) | |
17 | g.72122813C>G | CA400866493 | SOX9 | c.526C>G (p.Pro176Ala) | dbSNP |
17 | g.72122813C>T | CA400866494 | SOX9 | c.526C>T (p.Pro176Ser) | ClinVar dbSNP COSMIC |
17 | g.72122814C>A | CA400866497 | SOX9 | c.527C>A (p.Pro176Gln) | |
17 | g.72122814C= | CA2273925917 | SOX9 | c.527C= (p.Pro176=) | |
17 | g.72122814C>G | CA400866496 | SOX9 | c.527C>G (p.Pro176Arg) | ClinVar dbSNP |
17 | g.72122814C>T | CA400866495 | SOX9 | c.527C>T (p.Pro176Leu) | ClinVar dbSNP |
17 | g.72122815G>A | CA501432585 | SOX9 | c.528G>A (p.Pro176=) | ClinVar dbSNP |
17 | g.72122815G>C | CA501432586 | SOX9 | c.528G>C (p.Pro176=) | dbSNP |
17 | g.72122815G= | CA2273925918 | SOX9 | c.528G= (p.Pro176=) | |
17 | g.72122815G>T | CA8738935 | SOX9 | c.528G>T (p.Pro176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72122816C>A | CA501432587 | SOX9 | c.529C>A (p.Arg177=) | dbSNP |
17 | g.72122816C>G | CA400866498 | SOX9 | c.529C>G (p.Arg177Gly) | dbSNP |
17 | g.72122816C>T | CA400866499 | SOX9 | c.529C>T (p.Arg177Trp) | ClinVar dbSNP COSMIC |
17 | g.72122817G>A | CA241338 | SOX9 | c.530G>A (p.Arg177Gln) | ClinVar dbSNP |
17 | g.72122817G>C | CA400866500 | SOX9 | c.530G>C (p.Arg177Pro) |