Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175973C>A | CA400862732 | KCNJ2 | c.934C>A (p.Arg312Ser) | |
17 | g.70175973C= | CA2272996749 | KCNJ2 | c.934C= (p.Arg312=) | |
17 | g.70175973C>G | CA400862734 | KCNJ2 | c.934C>G (p.Arg312Gly) | COSMIC |
17 | g.70175973C>T | CA329717 | KCNJ2 | c.934C>T (p.Arg312Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.70175974G>A | CA302070 | KCNJ2 | c.935G>A (p.Arg312His) | ClinVar dbSNP gnomAD v4 |
17 | g.70175974G>C | CA400862739 | KCNJ2 | c.935G>C (p.Arg312Pro) | |
17 | g.70175974G= | CA2272996750 | KCNJ2 | c.935G= (p.Arg312=) | |
17 | g.70175974G>T | CA400862741 | KCNJ2 | c.935G>T (p.Arg312Leu) | |
17 | g.70175975T>A | CA501700865 | KCNJ2 | c.936T>A (p.Arg312=) | |
17 | g.70175975T>C | CA501700866 | KCNJ2 | c.936T>C (p.Arg312=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175975T>G | CA501700864 | KCNJ2 | c.936T>G (p.Arg312=) | |
17 | g.70175975T= | CA2272996751 | KCNJ2 | c.936T= (p.Arg312=) | |
17 | g.70175976A>C | CA400862747 | KCNJ2 | c.937A>C (p.Ser313Arg) | |
17 | g.70175976A>G | CA400862745 | KCNJ2 | c.937A>G (p.Ser313Gly) | |
17 | g.70175976A>T | CA400862743 | KCNJ2 | c.937A>T (p.Ser313Cys) | |
17 | g.70175977G>A | CA400862749 | KCNJ2 | c.938G>A (p.Ser313Asn) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175977G>C | CA400862750 | KCNJ2 | c.938G>C (p.Ser313Thr) | |
17 | g.70175977G= | CA2272996752 | KCNJ2 | c.938G= (p.Ser313=) | |
17 | g.70175977G>T | CA400862751 | KCNJ2 | c.938G>T (p.Ser313Ile) | |
17 | g.70175977_70175983delinsGCTCTTA | CA2272996753 | KCNJ2 | c.938_944delinsGCTCTTA (p.Ser313=) | |
17 | g.70175978C>A | CA400862754 | KCNJ2 | c.939C>A (p.Ser313Arg) | |
17 | g.70175978C= | CA2272996754 | KCNJ2 | c.939C= (p.Ser313=) | |
17 | g.70175978C>G | CA400862756 | KCNJ2 | c.939C>G (p.Ser313Arg) | gnomAD v4 |
17 | g.70175978C>T | CA501700868 | KCNJ2 | c.939C>T (p.Ser313=) | dbSNP |
17 | g.70175978_70175983del | CA1139665862 | KCNJ2 | c.939_944del (p.Ser314_Tyr315del) | ClinVar dbSNP |
17 | g.70175979T>A | CA400862758 | KCNJ2 | c.940T>A (p.Ser314Thr) | |
17 | g.70175979T>C | CA400862760 | KCNJ2 | c.940T>C (p.Ser314Pro) | |
17 | g.70175979T>G | CA400862762 | KCNJ2 | c.940T>G (p.Ser314Ala) | |
17 | g.70175979_70175984del | CA2695226998 | KCNJ2 | c.940_945del (p.Ser314_Tyr315del) | |
17 | g.70175980C>A | CA400862764 | KCNJ2 | c.941C>A (p.Ser314Tyr) | |
17 | g.70175980C= | CA2272996755 | KCNJ2 | c.941C= (p.Ser314=) | |
17 | g.70175980C>G | CA400862766 | KCNJ2 | c.941C>G (p.Ser314Cys) | |
17 | g.70175980C>T | CA400862768 | KCNJ2 | c.941C>T (p.Ser314Phe) | ClinVar dbSNP |
17 | g.70175981T>A | CA501700874 | KCNJ2 | c.942T>A (p.Ser314=) | |
17 | g.70175981T>C | CA501700872 | KCNJ2 | c.942T>C (p.Ser314=) | |
17 | g.70175981T>G | CA501700873 | KCNJ2 | c.942T>G (p.Ser314=) | |
17 | g.70175982T>A | CA400862771 | KCNJ2 | c.943T>A (p.Tyr315Asn) | |
17 | g.70175982T>C | CA400862773 | KCNJ2 | c.943T>C (p.Tyr315His) | |
17 | g.70175982T>G | CA400862775 | KCNJ2 | c.943T>G (p.Tyr315Asp) | |
17 | g.70175983A>C | CA400862779 | KCNJ2 | c.944A>C (p.Tyr315Ser) | |
17 | g.70175983A>G | CA400862781 | KCNJ2 | c.944A>G (p.Tyr315Cys) | |
17 | g.70175983A>T | CA400862777 | KCNJ2 | c.944A>T (p.Tyr315Phe) | |
17 | g.70175984T>A | CA400862783 | KCNJ2 | c.945T>A (p.Tyr315Ter) | |
17 | g.70175984T>C | CA501700879 | KCNJ2 | c.945T>C (p.Tyr315=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175984T>G | CA400862786 | KCNJ2 | c.945T>G (p.Tyr315Ter) | |
17 | g.70175984T= | CA2272996756 | KCNJ2 | c.945T= (p.Tyr315=) | |
17 | g.70175985C>A | CA400862788 | KCNJ2 | c.946C>A (p.Leu316Ile) | |
17 | g.70175985C>G | CA400862790 | KCNJ2 | c.946C>G (p.Leu316Val) | |
17 | g.70175985C>T | CA501700880 | KCNJ2 | c.946C>T (p.Leu316=) | |
17 | g.70175986T>A | CA400862792 | KCNJ2 | c.947T>A (p.Leu316Gln) |