Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839460T>A | CA383243896 | KCNJ1 | c.784A>T (p.Met262Leu) c.841A>T (p.Met281Leu) c.835A>T (p.Met279Leu) | |
11 | g.128839460T>C | CA383243897 | KCNJ1 | c.784A>G (p.Met262Val) c.841A>G (p.Met281Val) c.835A>G (p.Met279Val) | gnomAD v4 |
11 | g.128839460T>G | CA383243898 | KCNJ1 | c.784A>C (p.Met262Leu) c.841A>C (p.Met281Leu) c.835A>C (p.Met279Leu) | |
11 | g.128839461G>A | CA477702931 | KCNJ1 | c.783C>T (p.His261=) c.840C>T (p.His280=) c.834C>T (p.His278=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839461G>C | CA383243899 | KCNJ1 | c.783C>G (p.His261Gln) c.840C>G (p.His280Gln) c.834C>G (p.His278Gln) | |
11 | g.128839461G= | CA2008286526 | KCNJ1 | c.783C= (p.His261=) c.840C= (p.His280=) c.834C= (p.His278=) | |
11 | g.128839461G>T | CA383243900 | KCNJ1 | c.783C>A (p.His261Gln) c.840C>A (p.His280Gln) c.834C>A (p.His278Gln) | |
11 | g.128839462T>A | CA383243903 | KCNJ1 | c.782A>T (p.His261Leu) c.839A>T (p.His280Leu) c.833A>T (p.His278Leu) | |
11 | g.128839462T>C | CA383243902 | KCNJ1 | c.782A>G (p.His261Arg) c.839A>G (p.His280Arg) c.833A>G (p.His278Arg) | |
11 | g.128839462T>G | CA383243901 | KCNJ1 | c.782A>C (p.His261Pro) c.839A>C (p.His280Pro) c.833A>C (p.His278Pro) | |
11 | g.128839463G>A | CA383243904 | KCNJ1 | c.781C>T (p.His261Tyr) c.838C>T (p.His280Tyr) c.832C>T (p.His278Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839463G>C | CA383243905 | KCNJ1 | c.781C>G (p.His261Asp) c.838C>G (p.His280Asp) c.832C>G (p.His278Asp) | |
11 | g.128839463G= | CA2008286529 | KCNJ1 | c.781C= (p.His261=) c.838C= (p.His280=) c.832C= (p.His278=) | |
11 | g.128839463G>T | CA383243906 | KCNJ1 | c.781C>A (p.His261Asn) c.838C>A (p.His280Asn) c.832C>A (p.His278Asn) | |
11 | g.128839464G>A | CA6357454 | KCNJ1 | c.780C>T (p.Phe260=) c.837C>T (p.Phe279=) c.831C>T (p.Phe277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839464G>C | CA383243907 | KCNJ1 | c.780C>G (p.Phe260Leu) c.837C>G (p.Phe279Leu) c.831C>G (p.Phe277Leu) | |
11 | g.128839464G= | CA2008286533 | KCNJ1 | c.780C= (p.Phe260=) c.837C= (p.Phe279=) c.831C= (p.Phe277=) | |
11 | g.128839464G>T | CA383243908 | KCNJ1 | c.780C>A (p.Phe260Leu) c.837C>A (p.Phe279Leu) c.831C>A (p.Phe277Leu) | |
11 | g.128839465A= | CA2008286534 | KCNJ1 | c.779T= (p.Phe260=) c.836T= (p.Phe279=) c.830T= (p.Phe277=) | |
11 | g.128839465A>C | CA383243911 | KCNJ1 | c.779T>G (p.Phe260Cys) c.836T>G (p.Phe279Cys) c.830T>G (p.Phe277Cys) | |
11 | g.128839465A>G | CA383243910 | KCNJ1 | c.779T>C (p.Phe260Ser) c.836T>C (p.Phe279Ser) c.830T>C (p.Phe277Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839465A>T | CA383243909 | KCNJ1 | c.779T>A (p.Phe260Tyr) c.836T>A (p.Phe279Tyr) c.830T>A (p.Phe277Tyr) | |
11 | g.128839466A>C | CA383243912 | KCNJ1 | c.778T>G (p.Phe260Val) c.835T>G (p.Phe279Val) c.829T>G (p.Phe277Val) | |
11 | g.128839466A>G | CA383243913 | KCNJ1 | c.778T>C (p.Phe260Leu) c.835T>C (p.Phe279Leu) c.829T>C (p.Phe277Leu) | |
11 | g.128839466A>T | CA383243914 | KCNJ1 | c.778T>A (p.Phe260Ile) c.835T>A (p.Phe279Ile) c.829T>A (p.Phe277Ile) | COSMIC |
11 | g.128839467G>A | CA477702939 | KCNJ1 | c.777C>T (p.Phe259=) c.834C>T (p.Phe278=) c.828C>T (p.Phe276=) | gnomAD v4 |
11 | g.128839467G>C | CA383243915 | KCNJ1 | c.777C>G (p.Phe259Leu) c.834C>G (p.Phe278Leu) c.828C>G (p.Phe276Leu) | |
11 | g.128839467G>T | CA383243916 | KCNJ1 | c.777C>A (p.Phe259Leu) c.834C>A (p.Phe278Leu) c.828C>A (p.Phe276Leu) | |
11 | g.128839468A= | CA2008286540 | KCNJ1 | c.776T= (p.Phe259=) c.833T= (p.Phe278=) c.827T= (p.Phe276=) | |
11 | g.128839468A>C | CA383243919 | KCNJ1 | c.776T>G (p.Phe259Cys) c.833T>G (p.Phe278Cys) c.827T>G (p.Phe276Cys) | gnomAD v4 |
11 | g.128839468A>G | CA383243918 | KCNJ1 | c.776T>C (p.Phe259Ser) c.833T>C (p.Phe278Ser) c.827T>C (p.Phe276Ser) | dbSNP |
11 | g.128839468A>T | CA383243917 | KCNJ1 | c.776T>A (p.Phe259Tyr) c.833T>A (p.Phe278Tyr) c.827T>A (p.Phe276Tyr) | |
11 | g.128839469A>C | CA383243920 | KCNJ1 | c.775T>G (p.Phe259Val) c.832T>G (p.Phe278Val) c.826T>G (p.Phe276Val) | |
11 | g.128839469A>G | CA383243921 | KCNJ1 | c.775T>C (p.Phe259Leu) c.832T>C (p.Phe278Leu) c.826T>C (p.Phe276Leu) | |
11 | g.128839469A>T | CA383243922 | KCNJ1 | c.775T>A (p.Phe259Ile) c.832T>A (p.Phe278Ile) c.826T>A (p.Phe276Ile) | |
11 | g.128839470A>C | CA477702944 | KCNJ1 | c.774T>G (p.Pro258=) c.831T>G (p.Pro277=) c.825T>G (p.Pro275=) | |
11 | g.128839470A>G | CA477702945 | KCNJ1 | c.774T>C (p.Pro258=) c.831T>C (p.Pro277=) c.825T>C (p.Pro275=) | |
11 | g.128839470A>T | CA477702946 | KCNJ1 | c.774T>A (p.Pro258=) c.831T>A (p.Pro277=) c.825T>A (p.Pro275=) | |
11 | g.128839470_128839471delinsAG | CA2008286544 | KCNJ1 | c.773_774delinsCT (p.Pro258=) c.830_831delinsCT (p.Pro277=) c.824_825delinsCT (p.Pro275=) | |
11 | g.128839471G>A | CA383243923 | KCNJ1 | c.773C>T (p.Pro258Leu) c.830C>T (p.Pro277Leu) c.824C>T (p.Pro275Leu) | |
11 | g.128839471G>C | CA383243924 | KCNJ1 | c.773C>G (p.Pro258Arg) c.830C>G (p.Pro277Arg) c.824C>G (p.Pro275Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839471G= | CA2008286549 | KCNJ1 | c.773C= (p.Pro258=) c.830C= (p.Pro277=) c.824C= (p.Pro275=) | |
11 | g.128839471G>T | CA383243925 | KCNJ1 | c.773C>A (p.Pro258His) c.830C>A (p.Pro277His) c.824C>A (p.Pro275His) | |
11 | g.128839473del | CA673266317 | KCNJ1 | c.773del (p.Pro258LeufsTer17) c.830del (p.Pro277LeufsTer17) c.824del (p.Pro275LeufsTer17) | dbSNP |
11 | g.128839472G>A | CA383243928 | KCNJ1 | c.772C>T (p.Pro258Ser) c.829C>T (p.Pro277Ser) c.823C>T (p.Pro275Ser) | |
11 | g.128839472G>C | CA383243926 | KCNJ1 | c.772C>G (p.Pro258Ala) c.829C>G (p.Pro277Ala) c.823C>G (p.Pro275Ala) | |
11 | g.128839472G>T | CA383243927 | KCNJ1 | c.772C>A (p.Pro258Thr) c.829C>A (p.Pro277Thr) c.823C>A (p.Pro275Thr) | |
11 | g.128839473G>A | CA477702947 | KCNJ1 | c.771C>T (p.Ser257=) c.828C>T (p.Ser276=) c.822C>T (p.Ser274=) | |
11 | g.128839473G>C | CA383243929 | KCNJ1 | c.771C>G (p.Ser257Arg) c.828C>G (p.Ser276Arg) c.822C>G (p.Ser274Arg) | |
11 | g.128839473G>T | CA383243930 | KCNJ1 | c.771C>A (p.Ser257Arg) c.828C>A (p.Ser276Arg) c.822C>A (p.Ser274Arg) | |
11 | g.128839474C>A | CA230628223 | KCNJ1 | c.770G>T (p.Ser257Ile) c.827G>T (p.Ser276Ile) c.821G>T (p.Ser274Ile) | dbSNP |
11 | g.128839474C= | CA2008286552 | KCNJ1 | c.770G= (p.Ser257=) c.827G= (p.Ser276=) c.821G= (p.Ser274=) | |
11 | g.128839474C>G | CA383243931 | KCNJ1 | c.770G>C (p.Ser257Thr) c.827G>C (p.Ser276Thr) c.821G>C (p.Ser274Thr) | |
11 | g.128839474C>T | CA383243932 | KCNJ1 | c.770G>A (p.Ser257Asn) c.827G>A (p.Ser276Asn) c.821G>A (p.Ser274Asn) | gnomAD v4 |
11 | g.128839475T>A | CA383243933 | KCNJ1 | c.769A>T (p.Ser257Cys) c.826A>T (p.Ser276Cys) c.820A>T (p.Ser274Cys) | gnomAD v4 |
11 | g.128839475T>C | CA383243934 | KCNJ1 | c.769A>G (p.Ser257Gly) c.826A>G (p.Ser276Gly) c.820A>G (p.Ser274Gly) | |
11 | g.128839475T>G | CA383243935 | KCNJ1 | c.769A>C (p.Ser257Arg) c.826A>C (p.Ser276Arg) c.820A>C (p.Ser274Arg) | |
11 | g.128839476G>A | CA477702953 | KCNJ1 | c.768C>T (p.Asn256=) c.825C>T (p.Asn275=) c.819C>T (p.Asn273=) | |
11 | g.128839476G>C | CA383243936 | KCNJ1 | c.768C>G (p.Asn256Lys) c.825C>G (p.Asn275Lys) c.819C>G (p.Asn273Lys) | |
11 | g.128839476G>T | CA383243937 | KCNJ1 | c.768C>A (p.Asn256Lys) c.825C>A (p.Asn275Lys) c.819C>A (p.Asn273Lys) | |
11 | g.128839477T>A | CA383243938 | KCNJ1 | c.767A>T (p.Asn256Ile) c.824A>T (p.Asn275Ile) c.818A>T (p.Asn273Ile) | gnomAD v4 |
11 | g.128839477T>C | CA383243939 | KCNJ1 | c.767A>G (p.Asn256Ser) c.824A>G (p.Asn275Ser) c.818A>G (p.Asn273Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839477T>G | CA383243940 | KCNJ1 | c.767A>C (p.Asn256Thr) c.824A>C (p.Asn275Thr) c.818A>C (p.Asn273Thr) | |
11 | g.128839477T= | CA2008286555 | KCNJ1 | c.767A= (p.Asn256=) c.824A= (p.Asn275=) c.818A= (p.Asn273=) | |
11 | g.128839478T>A | CA383243941 | KCNJ1 | c.766A>T (p.Asn256Tyr) c.823A>T (p.Asn275Tyr) c.817A>T (p.Asn273Tyr) | |
11 | g.128839478T>C | CA383243943 | KCNJ1 | c.766A>G (p.Asn256Asp) c.823A>G (p.Asn275Asp) c.817A>G (p.Asn273Asp) | |
11 | g.128839478T>G | CA383243942 | KCNJ1 | c.766A>C (p.Asn256His) c.823A>C (p.Asn275His) c.817A>C (p.Asn273His) | |
11 | g.128839479G>A | CA6357455 | KCNJ1 | c.765C>T (p.His255=) c.822C>T (p.His274=) c.816C>T (p.His272=) | dbSNP ExAC gnomAD v2 |
11 | g.128839479G>C | CA383243944 | KCNJ1 | c.765C>G (p.His255Gln) c.822C>G (p.His274Gln) c.816C>G (p.His272Gln) | |
11 | g.128839479G= | CA2008286558 | KCNJ1 | c.765C= (p.His255=) c.822C= (p.His274=) c.816C= (p.His272=) | |
11 | g.128839479G>T | CA383243945 | KCNJ1 | c.765C>A (p.His255Gln) c.822C>A (p.His274Gln) c.816C>A (p.His272Gln) | gnomAD v4 |
11 | g.128839480T>A | CA383243946 | KCNJ1 | c.764A>T (p.His255Leu) c.821A>T (p.His274Leu) c.815A>T (p.His272Leu) | |
11 | g.128839480T>C | CA383243947 | KCNJ1 | c.764A>G (p.His255Arg) c.821A>G (p.His274Arg) c.815A>G (p.His272Arg) | gnomAD v4 |
11 | g.128839480T>G | CA383243949 | KCNJ1 | c.764A>C (p.His255Pro) c.821A>C (p.His274Pro) c.815A>C (p.His272Pro) | |
11 | g.128839481G>A | CA383243952 | KCNJ1 | c.763C>T (p.His255Tyr) c.820C>T (p.His274Tyr) c.814C>T (p.His272Tyr) | gnomAD v4 |
11 | g.128839481G>C | CA383243950 | KCNJ1 | c.763C>G (p.His255Asp) c.820C>G (p.His274Asp) c.814C>G (p.His272Asp) | |
11 | g.128839481G>T | CA383243951 | KCNJ1 | c.763C>A (p.His255Asn) c.820C>A (p.His274Asn) c.814C>A (p.His272Asn) | |
11 | g.128839482A>C | CA383243953 | KCNJ1 | c.762T>G (p.Asp254Glu) c.819T>G (p.Asp273Glu) c.813T>G (p.Asp271Glu) | |
11 | g.128839482A>G | CA477702959 | KCNJ1 | c.762T>C (p.Asp254=) c.819T>C (p.Asp273=) c.813T>C (p.Asp271=) | |
11 | g.128839482A>T | CA383243954 | KCNJ1 | c.762T>A (p.Asp254Glu) c.819T>A (p.Asp273Glu) c.813T>A (p.Asp271Glu) | |
11 | g.128839483T>A | CA383243955 | KCNJ1 | c.761A>T (p.Asp254Val) c.818A>T (p.Asp273Val) c.812A>T (p.Asp271Val) | gnomAD v4 |
11 | g.128839483T>C | CA383243956 | KCNJ1 | c.761A>G (p.Asp254Gly) c.818A>G (p.Asp273Gly) c.812A>G (p.Asp271Gly) | |
11 | g.128839483T>G | CA383243957 | KCNJ1 | c.761A>C (p.Asp254Ala) c.818A>C (p.Asp273Ala) c.812A>C (p.Asp271Ala) | |
11 | g.128839484C>A | CA383243958 | KCNJ1 | c.760G>T (p.Asp254Tyr) c.817G>T (p.Asp273Tyr) c.811G>T (p.Asp271Tyr) | |
11 | g.128839484C>G | CA383243960 | KCNJ1 | c.760G>C (p.Asp254His) c.817G>C (p.Asp273His) c.811G>C (p.Asp271His) | |
11 | g.128839484C>T | CA383243959 | KCNJ1 | c.760G>A (p.Asp254Asn) c.817G>A (p.Asp273Asn) c.811G>A (p.Asp271Asn) | |
11 | g.128839485A>C | CA383243961 | KCNJ1 | c.759T>G (p.Ile253Met) c.816T>G (p.Ile272Met) c.810T>G (p.Ile270Met) | gnomAD v4 |
11 | g.128839485A>G | CA477702963 | KCNJ1 | c.759T>C (p.Ile253=) c.816T>C (p.Ile272=) c.810T>C (p.Ile270=) | |
11 | g.128839485A>T | CA477702964 | KCNJ1 | c.759T>A (p.Ile253=) c.816T>A (p.Ile272=) c.810T>A (p.Ile270=) | |
11 | g.128839486A= | CA2008286561 | KCNJ1 | c.758T= (p.Ile253=) c.815T= (p.Ile272=) c.809T= (p.Ile270=) | |
11 | g.128839486A>C | CA383243962 | KCNJ1 | c.758T>G (p.Ile253Ser) c.815T>G (p.Ile272Ser) c.809T>G (p.Ile270Ser) | |
11 | g.128839486A>G | CA6357456 | KCNJ1 | c.758T>C (p.Ile253Thr) c.815T>C (p.Ile272Thr) c.809T>C (p.Ile270Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839486A>T | CA383243963 | KCNJ1 | c.758T>A (p.Ile253Asn) c.815T>A (p.Ile272Asn) c.809T>A (p.Ile270Asn) | |
11 | g.128839487T>A | CA6357458 | KCNJ1 | c.757A>T (p.Ile253Phe) c.814A>T (p.Ile272Phe) c.808A>T (p.Ile270Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839487T>C | CA6357457 | KCNJ1 | c.757A>G (p.Ile253Val) c.814A>G (p.Ile272Val) c.808A>G (p.Ile270Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839487T>G | CA383243967 | KCNJ1 | c.757A>C (p.Ile253Leu) c.814A>C (p.Ile272Leu) c.808A>C (p.Ile270Leu) | |
11 | g.128839487T= | CA2008286567 | KCNJ1 | c.757A= (p.Ile253=) c.814A= (p.Ile272=) c.808A= (p.Ile270=) | |
11 | g.128839488G>A | CA477702967 | KCNJ1 | c.756C>T (p.Val252=) c.813C>T (p.Val271=) c.807C>T (p.Val269=) | |
11 | g.128839488G>C | CA477702971 | KCNJ1 | c.756C>G (p.Val252=) c.813C>G (p.Val271=) c.807C>G (p.Val269=) | gnomAD v4 |
11 | g.128839488G= | CA2008286570 | KCNJ1 | c.756C= (p.Val252=) c.813C= (p.Val271=) c.807C= (p.Val269=) | |
11 | g.128839488G>T | CA477702972 | KCNJ1 | c.756C>A (p.Val252=) c.813C>A (p.Val271=) c.807C>A (p.Val269=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839489A>C | CA383243970 | KCNJ1 | c.755T>G (p.Val252Gly) c.812T>G (p.Val271Gly) c.806T>G (p.Val269Gly) | gnomAD v4 |
11 | g.128839489A>G | CA383243972 | KCNJ1 | c.755T>C (p.Val252Ala) c.812T>C (p.Val271Ala) c.806T>C (p.Val269Ala) | COSMIC |
11 | g.128839489A>T | CA383243974 | KCNJ1 | c.755T>A (p.Val252Asp) c.812T>A (p.Val271Asp) c.806T>A (p.Val269Asp) | |
11 | g.128839490C>A | CA383243977 | KCNJ1 | c.754G>T (p.Val252Phe) c.811G>T (p.Val271Phe) c.805G>T (p.Val269Phe) | |
11 | g.128839490C= | CA2008286573 | KCNJ1 | c.754G= (p.Val252=) c.811G= (p.Val271=) c.805G= (p.Val269=) | |
11 | g.128839490C>G | CA383243976 | KCNJ1 | c.754G>C (p.Val252Leu) c.811G>C (p.Val271Leu) c.805G>C (p.Val269Leu) | |
11 | g.128839490C>T | CA6357459 | KCNJ1 | c.754G>A (p.Val252Ile) c.811G>A (p.Val271Ile) c.805G>A (p.Val269Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839491A>C | CA383243980 | KCNJ1 | c.753T>G (p.His251Gln) c.810T>G (p.His270Gln) c.804T>G (p.His268Gln) | |
11 | g.128839491A>G | CA477702975 | KCNJ1 | c.753T>C (p.His251=) c.810T>C (p.His270=) c.804T>C (p.His268=) | |
11 | g.128839491A>T | CA383243981 | KCNJ1 | c.753T>A (p.His251Gln) c.810T>A (p.His270Gln) c.804T>A (p.His268Gln) | |
11 | g.128839492T>A | CA383243983 | KCNJ1 | c.752A>T (p.His251Leu) c.809A>T (p.His270Leu) c.803A>T (p.His268Leu) | |
11 | g.128839492T>C | CA383243987 | KCNJ1 | c.752A>G (p.His251Arg) c.809A>G (p.His270Arg) c.803A>G (p.His268Arg) | dbSNP gnomAD v4 |
11 | g.128839492T>G | CA383243985 | KCNJ1 | c.752A>C (p.His251Pro) c.809A>C (p.His270Pro) c.803A>C (p.His268Pro) | |
11 | g.128839492T= | CA2008286576 | KCNJ1 | c.752A= (p.His251=) c.809A= (p.His270=) c.803A= (p.His268=) | |
11 | g.128839493G>A | CA6357460 | KCNJ1 | c.751C>T (p.His251Tyr) c.808C>T (p.His270Tyr) c.802C>T (p.His268Tyr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.128839493G>C | CA383243991 | KCNJ1 | c.751C>G (p.His251Asp) c.808C>G (p.His270Asp) c.802C>G (p.His268Asp) | |
11 | g.128839493G= | CA2008286578 | KCNJ1 | c.751C= (p.His251=) c.808C= (p.His270=) c.802C= (p.His268=) | |
11 | g.128839493G>T | CA383243989 | KCNJ1 | c.751C>A (p.His251Asn) c.808C>A (p.His270Asn) c.802C>A (p.His268Asn) | |
11 | g.128839494G>A | CA6357461 | KCNJ1 | c.750C>T (p.Tyr250=) c.807C>T (p.Tyr269=) c.801C>T (p.Tyr267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839494G>C | CA383243996 | KCNJ1 | c.750C>G (p.Tyr250Ter) c.807C>G (p.Tyr269Ter) c.801C>G (p.Tyr267Ter) | |
11 | g.128839494G= | CA2008286583 | KCNJ1 | c.750C= (p.Tyr250=) c.807C= (p.Tyr269=) c.801C= (p.Tyr267=) | |
11 | g.128839494G>T | CA383243993 | KCNJ1 | c.750C>A (p.Tyr250Ter) c.807C>A (p.Tyr269Ter) c.801C>A (p.Tyr267Ter) | |
11 | g.128839495T>A | CA383243998 | KCNJ1 | c.749A>T (p.Tyr250Phe) c.806A>T (p.Tyr269Phe) c.800A>T (p.Tyr267Phe) | |
11 | g.128839495T>C | CA383243999 | KCNJ1 | c.749A>G (p.Tyr250Cys) c.806A>G (p.Tyr269Cys) c.800A>G (p.Tyr267Cys) | |
11 | g.128839495T>G | CA383244000 | KCNJ1 | c.749A>C (p.Tyr250Ser) c.806A>C (p.Tyr269Ser) c.800A>C (p.Tyr267Ser) | |
11 | g.128839496A>C | CA383244001 | KCNJ1 | c.748T>G (p.Tyr250Asp) c.805T>G (p.Tyr269Asp) c.799T>G (p.Tyr267Asp) | |
11 | g.128839496A>G | CA383244003 | KCNJ1 | c.748T>C (p.Tyr250His) c.805T>C (p.Tyr269His) c.799T>C (p.Tyr267His) | |
11 | g.128839496A>T | CA383244005 | KCNJ1 | c.748T>A (p.Tyr250Asn) c.805T>A (p.Tyr269Asn) c.799T>A (p.Tyr267Asn) | |
11 | g.128839497A>C | CA383244006 | KCNJ1 | c.747T>G (p.Ile249Met) c.804T>G (p.Ile268Met) c.798T>G (p.Ile266Met) | |
11 | g.128839497A>G | CA477702982 | KCNJ1 | c.747T>C (p.Ile249=) c.804T>C (p.Ile268=) c.798T>C (p.Ile266=) | |
11 | g.128839497A>T | CA477702983 | KCNJ1 | c.747T>A (p.Ile249=) c.804T>A (p.Ile268=) c.798T>A (p.Ile266=) | |
11 | g.128839498A>C | CA383244013 | KCNJ1 | c.746T>G (p.Ile249Ser) c.803T>G (p.Ile268Ser) c.797T>G (p.Ile266Ser) | |
11 | g.128839498A>G | CA383244014 | KCNJ1 | c.746T>C (p.Ile249Thr) c.803T>C (p.Ile268Thr) c.797T>C (p.Ile266Thr) | |
11 | g.128839498A>T | CA383244016 | KCNJ1 | c.746T>A (p.Ile249Asn) c.803T>A (p.Ile268Asn) c.797T>A (p.Ile266Asn) | |
11 | g.128839499T>A | CA383244020 | KCNJ1 | c.745A>T (p.Ile249Phe) c.802A>T (p.Ile268Phe) c.796A>T (p.Ile266Phe) | |
11 | g.128839499T>C | CA383244023 | KCNJ1 | c.745A>G (p.Ile249Val) c.802A>G (p.Ile268Val) c.796A>G (p.Ile266Val) | gnomAD v4 |
11 | g.128839499T>G | CA383244025 | KCNJ1 | c.745A>C (p.Ile249Leu) c.802A>C (p.Ile268Leu) c.796A>C (p.Ile266Leu) | |
11 | g.128839500T>A | CA477702989 | KCNJ1 | c.744A>T (p.Thr248=) c.801A>T (p.Thr267=) c.795A>T (p.Thr265=) | |
11 | g.128839500T>C | CA477702988 | KCNJ1 | c.744A>G (p.Thr248=) c.801A>G (p.Thr267=) c.795A>G (p.Thr265=) | dbSNP gnomAD v4 |
11 | g.128839500T>G | CA477702987 | KCNJ1 | c.744A>C (p.Thr248=) c.801A>C (p.Thr267=) c.795A>C (p.Thr265=) | |
11 | g.128839500T= | CA2008286587 | KCNJ1 | c.744A= (p.Thr248=) c.801A= (p.Thr267=) c.795A= (p.Thr265=) | |
11 | g.128839501G>A | CA383244027 | KCNJ1 | c.743C>T (p.Thr248Ile) c.800C>T (p.Thr267Ile) c.794C>T (p.Thr265Ile) | gnomAD v4 |
11 | g.128839501G>C | CA383244029 | KCNJ1 | c.743C>G (p.Thr248Arg) c.800C>G (p.Thr267Arg) c.794C>G (p.Thr265Arg) | |
11 | g.128839501G>T | CA383244028 | KCNJ1 | c.743C>A (p.Thr248Lys) c.800C>A (p.Thr267Lys) c.794C>A (p.Thr265Lys) | |
11 | g.128839502T>A | CA383244030 | KCNJ1 | c.742A>T (p.Thr248Ser) c.799A>T (p.Thr267Ser) c.793A>T (p.Thr265Ser) | |
11 | g.128839502T>C | CA383244032 | KCNJ1 | c.742A>G (p.Thr248Ala) c.799A>G (p.Thr267Ala) c.793A>G (p.Thr265Ala) | |
11 | g.128839502T>G | CA383244034 | KCNJ1 | c.742A>C (p.Thr248Pro) c.799A>C (p.Thr267Pro) c.793A>C (p.Thr265Pro) | |
11 | g.128839503C>A | CA383244036 | KCNJ1 | c.741G>T (p.Leu247Phe) c.798G>T (p.Leu266Phe) c.792G>T (p.Leu264Phe) | |
11 | g.128839503C= | CA2008286591 | KCNJ1 | c.741G= (p.Leu247=) c.798G= (p.Leu266=) c.792G= (p.Leu264=) | |
11 | g.128839503C>G | CA383244038 | KCNJ1 | c.741G>C (p.Leu247Phe) c.798G>C (p.Leu266Phe) c.792G>C (p.Leu264Phe) | |
11 | g.128839503C>T | CA477702993 | KCNJ1 | c.741G>A (p.Leu247=) c.798G>A (p.Leu266=) c.792G>A (p.Leu264=) | dbSNP gnomAD v4 |
11 | g.128839504A>C | CA383244042 | KCNJ1 | c.740T>G (p.Leu247Trp) c.797T>G (p.Leu266Trp) c.791T>G (p.Leu264Trp) | |
11 | g.128839504A>G | CA383244044 | KCNJ1 | c.740T>C (p.Leu247Ser) c.797T>C (p.Leu266Ser) c.791T>C (p.Leu264Ser) | |
11 | g.128839504A>T | CA383244058 | KCNJ1 | c.740T>A (p.Leu247Ter) c.797T>A (p.Leu266Ter) c.791T>A (p.Leu264Ter) | |
11 | g.128839505A>C | CA383244061 | KCNJ1 | c.739T>G (p.Leu247Val) c.796T>G (p.Leu266Val) c.790T>G (p.Leu264Val) | |
11 | g.128839505A>G | CA477702994 | KCNJ1 | c.739T>C (p.Leu247=) c.796T>C (p.Leu266=) c.790T>C (p.Leu264=) | gnomAD v4 |
11 | g.128839505A>T | CA383244063 | KCNJ1 | c.739T>A (p.Leu247Met) c.796T>A (p.Leu266Met) c.790T>A (p.Leu264Met) | |
11 | g.128839506T>A | CA477702996 | KCNJ1 | c.738A>T (p.Pro246=) c.795A>T (p.Pro265=) c.789A>T (p.Pro263=) | |
11 | g.128839506T>C | CA6357462 | KCNJ1 | c.738A>G (p.Pro246=) c.795A>G (p.Pro265=) c.789A>G (p.Pro263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839506T>G | CA477702997 | KCNJ1 | c.738A>C (p.Pro246=) c.795A>C (p.Pro265=) c.789A>C (p.Pro263=) | |
11 | g.128839506T= | CA2008286598 | KCNJ1 | c.738A= (p.Pro246=) c.795A= (p.Pro265=) c.789A= (p.Pro263=) | |
11 | g.128839506_128839507delinsTG | CA2008286599 | KCNJ1 | c.737_738delinsCA (p.Pro246=) c.794_795delinsCA (p.Pro265=) c.788_789delinsCA (p.Pro263=) | |
11 | g.128839507G>A | CA383244070 | KCNJ1 | c.737C>T (p.Pro246Leu) c.794C>T (p.Pro265Leu) c.788C>T (p.Pro263Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839507G>C | CA383244066 | KCNJ1 | c.737C>G (p.Pro246Arg) c.794C>G (p.Pro265Arg) c.788C>G (p.Pro263Arg) | |
11 | g.128839507G= | CA2008286603 | KCNJ1 | c.737C= (p.Pro246=) c.794C= (p.Pro265=) c.788C= (p.Pro263=) | |
11 | g.128839507G>T | CA383244068 | KCNJ1 | c.737C>A (p.Pro246Gln) c.794C>A (p.Pro265Gln) c.788C>A (p.Pro263Gln) | |
11 | g.128839510del | CA230628244 | KCNJ1 | c.737del (p.Pro246HisfsTer2) c.794del (p.Pro265HisfsTer2) c.788del (p.Pro263HisfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839508G>A | CA6357463 | KCNJ1 | c.736C>T (p.Pro246Ser) c.793C>T (p.Pro265Ser) c.787C>T (p.Pro263Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839508G>C | CA383244073 | KCNJ1 | c.736C>G (p.Pro246Ala) c.793C>G (p.Pro265Ala) c.787C>G (p.Pro263Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839508G= | CA2008286606 | KCNJ1 | c.736C= (p.Pro246=) c.793C= (p.Pro265=) c.787C= (p.Pro263=) | |
11 | g.128839508G>T | CA383244074 | KCNJ1 | c.736C>A (p.Pro246Thr) c.793C>A (p.Pro265Thr) c.787C>A (p.Pro263Thr) | |
11 | g.128839509G>A | CA6357464 | KCNJ1 | c.735C>T (p.Ser245=) c.792C>T (p.Ser264=) c.786C>T (p.Ser262=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839509G>C | CA477703001 | KCNJ1 | c.735C>G (p.Ser245=) c.792C>G (p.Ser264=) c.786C>G (p.Ser262=) | |
11 | g.128839509G= | CA2008286611 | KCNJ1 | c.735C= (p.Ser245=) c.792C= (p.Ser264=) c.786C= (p.Ser262=) | |
11 | g.128839509G>T | CA477703002 | KCNJ1 | c.735C>A (p.Ser245=) c.792C>A (p.Ser264=) c.786C>A (p.Ser262=) | |
11 | g.128839510G>A | CA383244083 | KCNJ1 | c.734C>T (p.Ser245Phe) c.791C>T (p.Ser264Phe) c.785C>T (p.Ser262Phe) | |
11 | g.128839510G>C | CA383244080 | KCNJ1 | c.734C>G (p.Ser245Cys) c.791C>G (p.Ser264Cys) c.785C>G (p.Ser262Cys) | gnomAD v4 |
11 | g.128839510G>T | CA383244082 | KCNJ1 | c.734C>A (p.Ser245Tyr) c.791C>A (p.Ser264Tyr) c.785C>A (p.Ser262Tyr) | |
11 | g.128839511A= | CA2008286613 | KCNJ1 | c.733T= (p.Ser245=) c.790T= (p.Ser264=) c.784T= (p.Ser262=) | |
11 | g.128839511A>C | CA383244086 | KCNJ1 | c.733T>G (p.Ser245Ala) c.790T>G (p.Ser264Ala) c.784T>G (p.Ser262Ala) | |
11 | g.128839511A>G | CA6357465 | KCNJ1 | c.733T>C (p.Ser245Pro) c.790T>C (p.Ser264Pro) c.784T>C (p.Ser262Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839511A>T | CA383244090 | KCNJ1 | c.733T>A (p.Ser245Thr) c.790T>A (p.Ser264Thr) c.784T>A (p.Ser262Thr) | dbSNP |
11 | g.128839512G>A | CA10638456 | KCNJ1 | c.732C>T (p.Ile244=) c.789C>T (p.Ile263=) c.783C>T (p.Ile261=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839512G>C | CA383244094 | KCNJ1 | c.732C>G (p.Ile244Met) c.789C>G (p.Ile263Met) c.783C>G (p.Ile261Met) | |
11 | g.128839512G= | CA2008286622 | KCNJ1 | c.732C= (p.Ile244=) c.789C= (p.Ile263=) c.783C= (p.Ile261=) | |
11 | g.128839512G>T | CA477703006 | KCNJ1 | c.732C>A (p.Ile244=) c.789C>A (p.Ile263=) c.783C>A (p.Ile261=) | |
11 | g.128839513A>C | CA383244097 | KCNJ1 | c.731T>G (p.Ile244Ser) c.788T>G (p.Ile263Ser) c.782T>G (p.Ile261Ser) | |
11 | g.128839513A>G | CA383244101 | KCNJ1 | c.731T>C (p.Ile244Thr) c.788T>C (p.Ile263Thr) c.782T>C (p.Ile261Thr) | |
11 | g.128839513A>T | CA383244099 | KCNJ1 | c.731T>A (p.Ile244Asn) c.788T>A (p.Ile263Asn) c.782T>A (p.Ile261Asn) | |
11 | g.128839514T>A | CA383244104 | KCNJ1 | c.730A>T (p.Ile244Phe) c.787A>T (p.Ile263Phe) c.781A>T (p.Ile261Phe) | |
11 | g.128839514T>C | CA6357466 | KCNJ1 | c.730A>G (p.Ile244Val) c.787A>G (p.Ile263Val) c.781A>G (p.Ile261Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839514T>G | CA383244107 | KCNJ1 | c.730A>C (p.Ile244Leu) c.787A>C (p.Ile263Leu) c.781A>C (p.Ile261Leu) | |
11 | g.128839514T= | CA2008286626 | KCNJ1 | c.730A= (p.Ile244=) c.787A= (p.Ile263=) c.781A= (p.Ile261=) | |
11 | g.128839515G>A | CA477703007 | KCNJ1 | c.729C>T (p.Phe243=) c.786C>T (p.Phe262=) c.780C>T (p.Phe260=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839515G>C | CA383244111 | KCNJ1 | c.729C>G (p.Phe243Leu) c.786C>G (p.Phe262Leu) c.780C>G (p.Phe260Leu) | |
11 | g.128839515G= | CA2008286628 | KCNJ1 | c.729C= (p.Phe243=) c.786C= (p.Phe262=) c.780C= (p.Phe260=) | |
11 | g.128839515G>T | CA383244113 | KCNJ1 | c.729C>A (p.Phe243Leu) c.786C>A (p.Phe262Leu) c.780C>A (p.Phe260Leu) | |
11 | g.128839516A>C | CA383244116 | KCNJ1 | c.728T>G (p.Phe243Cys) c.785T>G (p.Phe262Cys) c.779T>G (p.Phe260Cys) | |
11 | g.128839516A>G | CA383244119 | KCNJ1 | c.728T>C (p.Phe243Ser) c.785T>C (p.Phe262Ser) c.779T>C (p.Phe260Ser) | |
11 | g.128839516A>T | CA383244121 | KCNJ1 | c.728T>A (p.Phe243Tyr) c.785T>A (p.Phe262Tyr) c.779T>A (p.Phe260Tyr) | |
11 | g.128839517A>C | CA383244124 | KCNJ1 | c.727T>G (p.Phe243Val) c.784T>G (p.Phe262Val) c.778T>G (p.Phe260Val) | |
11 | g.128839517A>G | CA383244126 | KCNJ1 | c.727T>C (p.Phe243Leu) c.784T>C (p.Phe262Leu) c.778T>C (p.Phe260Leu) | |
11 | g.128839517A>T | CA383244128 | KCNJ1 | c.727T>A (p.Phe243Ile) c.784T>A (p.Phe262Ile) c.778T>A (p.Phe260Ile) | |
11 | g.128839518G>A | CA477703010 | KCNJ1 | c.726C>T (p.Phe242=) c.783C>T (p.Phe261=) c.777C>T (p.Phe259=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839518G>C | CA383244131 | KCNJ1 | c.726C>G (p.Phe242Leu) c.783C>G (p.Phe261Leu) c.777C>G (p.Phe259Leu) | |
11 | g.128839518G= | CA2008286634 | KCNJ1 | c.726C= (p.Phe242=) c.783C= (p.Phe261=) c.777C= (p.Phe259=) | |
11 | g.128839518G>T | CA383244133 | KCNJ1 | c.726C>A (p.Phe242Leu) c.783C>A (p.Phe261Leu) c.777C>A (p.Phe259Leu) | gnomAD v4 |
11 | g.128839519A>C | CA383244136 | KCNJ1 | c.725T>G (p.Phe242Cys) c.782T>G (p.Phe261Cys) c.776T>G (p.Phe259Cys) | |
11 | g.128839519A>G | CA383244140 | KCNJ1 | c.725T>C (p.Phe242Ser) c.782T>C (p.Phe261Ser) c.776T>C (p.Phe259Ser) | |
11 | g.128839519A>T | CA383244138 | KCNJ1 | c.725T>A (p.Phe242Tyr) c.782T>A (p.Phe261Tyr) c.776T>A (p.Phe259Tyr) | |
11 | g.128839520A>C | CA383244143 | KCNJ1 | c.724T>G (p.Phe242Val) c.781T>G (p.Phe261Val) c.775T>G (p.Phe259Val) | gnomAD v4 |
11 | g.128839520A>G | CA383244144 | KCNJ1 | c.724T>C (p.Phe242Leu) c.781T>C (p.Phe261Leu) c.775T>C (p.Phe259Leu) | |
11 | g.128839520A>T | CA383244146 | KCNJ1 | c.724T>A (p.Phe242Ile) c.781T>A (p.Phe261Ile) c.775T>A (p.Phe259Ile) | |
11 | g.128839521T>A | CA383244149 | KCNJ1 | c.723A>T (p.Leu241Phe) c.780A>T (p.Leu260Phe) c.774A>T (p.Leu258Phe) | |
11 | g.128839521T>C | CA477703014 | KCNJ1 | c.723A>G (p.Leu241=) c.780A>G (p.Leu260=) c.774A>G (p.Leu258=) | dbSNP |
11 | g.128839521T>G | CA383244151 | KCNJ1 | c.723A>C (p.Leu241Phe) c.780A>C (p.Leu260Phe) c.774A>C (p.Leu258Phe) | gnomAD v4 |
11 | g.128839521T= | CA2008286639 | KCNJ1 | c.723A= (p.Leu241=) c.780A= (p.Leu260=) c.774A= (p.Leu258=) | |
11 | g.128839522A>C | CA383244153 | KCNJ1 | c.722T>G (p.Leu241Ter) c.779T>G (p.Leu260Ter) c.773T>G (p.Leu258Ter) | |
11 | g.128839522A>G | CA383244156 | KCNJ1 | c.722T>C (p.Leu241Ser) c.779T>C (p.Leu260Ser) c.773T>C (p.Leu258Ser) | |
11 | g.128839522A>T | CA383244158 | KCNJ1 | c.722T>A (p.Leu241Ter) c.779T>A (p.Leu260Ter) c.773T>A (p.Leu258Ter) | |
11 | g.128839523A= | CA2008286643 | KCNJ1 | c.721T= (p.Leu241=) c.778T= (p.Leu260=) c.772T= (p.Leu258=) | |
11 | g.128839523A>C | CA383244161 | KCNJ1 | c.721T>G (p.Leu241Val) c.778T>G (p.Leu260Val) c.772T>G (p.Leu258Val) | dbSNP gnomAD v4 |
11 | g.128839523A>G | CA477703015 | KCNJ1 | c.721T>C (p.Leu241=) c.778T>C (p.Leu260=) c.772T>C (p.Leu258=) | |
11 | g.128839523A>T | CA383244163 | KCNJ1 | c.721T>A (p.Leu241Ile) c.778T>A (p.Leu260Ile) c.772T>A (p.Leu258Ile) | |
11 | g.128839524A>C | CA383244167 | KCNJ1 | c.720T>G (p.Asn240Lys) c.777T>G (p.Asn259Lys) c.771T>G (p.Asn257Lys) | |
11 | g.128839524A>G | CA477703016 | KCNJ1 | c.720T>C (p.Asn240=) c.777T>C (p.Asn259=) c.771T>C (p.Asn257=) | |
11 | g.128839524A>T | CA383244169 | KCNJ1 | c.720T>A (p.Asn240Lys) c.777T>A (p.Asn259Lys) c.771T>A (p.Asn257Lys) | |
11 | g.128839525T>A | CA383244176 | KCNJ1 | c.719A>T (p.Asn240Ile) c.776A>T (p.Asn259Ile) c.770A>T (p.Asn257Ile) | |
11 | g.128839525T>C | CA383244173 | KCNJ1 | c.719A>G (p.Asn240Ser) c.776A>G (p.Asn259Ser) c.770A>G (p.Asn257Ser) | |
11 | g.128839525T>G | CA216047 | KCNJ1 | c.719A>C (p.Asn240Thr) c.776A>C (p.Asn259Thr) c.770A>C (p.Asn257Thr) | ClinVar dbSNP |
11 | g.128839525T= | CA2008286649 | KCNJ1 | c.719A= (p.Asn240=) c.776A= (p.Asn259=) c.770A= (p.Asn257=) | |
11 | g.128839525_128839526insACAAACACATATACAGAAAC | CA2616771382 | KCNJ1 | c.718_719insGTTTCTGTATATGTGTTTGT (p.Asn240SerfsTer15) c.775_776insGTTTCTGTATATGTGTTTGT (p.Asn259SerfsTer15) c.769_770insGTTTCTGTATATGTGTTTGT (p.Asn257SerfsTer15) | gnomAD v4 |
11 | g.128839526T>A | CA383244179 | KCNJ1 | c.718A>T (p.Asn240Tyr) c.775A>T (p.Asn259Tyr) c.769A>T (p.Asn257Tyr) | gnomAD v4 |
11 | g.128839526T>C | CA383244181 | KCNJ1 | c.718A>G (p.Asn240Asp) c.775A>G (p.Asn259Asp) c.769A>G (p.Asn257Asp) | |
11 | g.128839526T>G | CA383244183 | KCNJ1 | c.718A>C (p.Asn240His) c.775A>C (p.Asn259His) c.769A>C (p.Asn257His) | |
11 | g.128839527T>A | CA383244186 | KCNJ1 | c.717A>T (p.Glu239Asp) c.774A>T (p.Glu258Asp) c.768A>T (p.Glu256Asp) | |
11 | g.128839527T>C | CA477703017 | KCNJ1 | c.717A>G (p.Glu239=) c.774A>G (p.Glu258=) c.768A>G (p.Glu256=) | |
11 | g.128839527T>G | CA383244188 | KCNJ1 | c.717A>C (p.Glu239Asp) c.774A>C (p.Glu258Asp) c.768A>C (p.Glu256Asp) | |
11 | g.128839528T>A | CA383244191 | KCNJ1 | c.716A>T (p.Glu239Val) c.773A>T (p.Glu258Val) c.767A>T (p.Glu256Val) | |
11 | g.128839528T>C | CA383244193 | KCNJ1 | c.716A>G (p.Glu239Gly) c.773A>G (p.Glu258Gly) c.767A>G (p.Glu256Gly) | |
11 | g.128839528T>G | CA383244196 | KCNJ1 | c.716A>C (p.Glu239Ala) c.773A>C (p.Glu258Ala) c.767A>C (p.Glu256Ala) | |
11 | g.128839529C>A | CA383244199 | KCNJ1 | c.715G>T (p.Glu239Ter) c.772G>T (p.Glu258Ter) c.766G>T (p.Glu256Ter) | |
11 | g.128839529C>G | CA383244201 | KCNJ1 | c.715G>C (p.Glu239Gln) c.772G>C (p.Glu258Gln) c.766G>C (p.Glu256Gln) | |
11 | g.128839529C>T | CA383244203 | KCNJ1 | c.715G>A (p.Glu239Lys) c.772G>A (p.Glu258Lys) c.766G>A (p.Glu256Lys) | gnomAD v4 COSMIC |
11 | g.128839530A= | CA2008286655 | KCNJ1 | c.714T= (p.Asn238=) c.771T= (p.Asn257=) c.765T= (p.Asn255=) | |
11 | g.128839530A>C | CA383244208 | KCNJ1 | c.714T>G (p.Asn238Lys) c.771T>G (p.Asn257Lys) c.765T>G (p.Asn255Lys) | dbSNP gnomAD v4 |
11 | g.128839530A>G | CA6357467 | KCNJ1 | c.714T>C (p.Asn238=) c.771T>C (p.Asn257=) c.765T>C (p.Asn255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839530A>T | CA383244206 | KCNJ1 | c.714T>A (p.Asn238Lys) c.771T>A (p.Asn257Lys) c.765T>A (p.Asn255Lys) | |
11 | g.128839531T>A | CA383244210 | KCNJ1 | c.713A>T (p.Asn238Ile) c.770A>T (p.Asn257Ile) c.764A>T (p.Asn255Ile) | |
11 | g.128839531T>C | CA383244212 | KCNJ1 | c.713A>G (p.Asn238Ser) c.770A>G (p.Asn257Ser) c.764A>G (p.Asn255Ser) | gnomAD v4 |
11 | g.128839531T>G | CA383244214 | KCNJ1 | c.713A>C (p.Asn238Thr) c.770A>C (p.Asn257Thr) c.764A>C (p.Asn255Thr) | |
11 | g.128839532T>A | CA383244216 | KCNJ1 | c.712A>T (p.Asn238Tyr) c.769A>T (p.Asn257Tyr) c.763A>T (p.Asn255Tyr) | |
11 | g.128839532T>C | CA383244217 | KCNJ1 | c.712A>G (p.Asn238Asp) c.769A>G (p.Asn257Asp) c.763A>G (p.Asn255Asp) | |
11 | g.128839532T>G | CA383244218 | KCNJ1 | c.712A>C (p.Asn238His) c.769A>C (p.Asn257His) c.763A>C (p.Asn255His) | |
11 | g.128839533C>A | CA477703108 | KCNJ1 | c.711G>T (p.Gly237=) c.768G>T (p.Gly256=) c.762G>T (p.Gly254=) | |
11 | g.128839533C= | CA2008286659 | KCNJ1 | c.711G= (p.Gly237=) c.768G= (p.Gly256=) c.762G= (p.Gly254=) | |
11 | g.128839533C>G | CA477703110 | KCNJ1 | c.711G>C (p.Gly237=) c.768G>C (p.Gly256=) c.762G>C (p.Gly254=) | |
11 | g.128839533C>T | CA6357468 | KCNJ1 | c.711G>A (p.Gly237=) c.768G>A (p.Gly256=) c.762G>A (p.Gly254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839534C>A | CA383244223 | KCNJ1 | c.710G>T (p.Gly237Val) c.767G>T (p.Gly256Val) c.761G>T (p.Gly254Val) | |
11 | g.128839534C= | CA2008286661 | KCNJ1 | c.710G= (p.Gly237=) c.767G= (p.Gly256=) c.761G= (p.Gly254=) | |
11 | g.128839534C>G | CA230628273 | KCNJ1 | c.710G>C (p.Gly237Ala) c.767G>C (p.Gly256Ala) c.761G>C (p.Gly254Ala) | dbSNP |
11 | g.128839534C>T | CA383244226 | KCNJ1 | c.710G>A (p.Gly237Glu) c.767G>A (p.Gly256Glu) c.761G>A (p.Gly254Glu) | COSMIC |
11 | g.128839535C>A | CA383244229 | KCNJ1 | c.709G>T (p.Gly237Trp) c.766G>T (p.Gly256Trp) c.760G>T (p.Gly254Trp) | |
11 | g.128839535C>G | CA383244231 | KCNJ1 | c.709G>C (p.Gly237Arg) c.766G>C (p.Gly256Arg) c.760G>C (p.Gly254Arg) | |
11 | g.128839535C>T | CA383244234 | KCNJ1 | c.709G>A (p.Gly237Arg) c.766G>A (p.Gly256Arg) c.760G>A (p.Gly254Arg) | |
11 | g.128839536A>C | CA477703118 | KCNJ1 | c.708T>G (p.Ala236=) c.765T>G (p.Ala255=) c.759T>G (p.Ala253=) | |
11 | g.128839536A>G | CA477703120 | KCNJ1 | c.708T>C (p.Ala236=) c.765T>C (p.Ala255=) c.759T>C (p.Ala253=) | |
11 | g.128839536A>T | CA477703122 | KCNJ1 | c.708T>A (p.Ala236=) c.765T>A (p.Ala255=) c.759T>A (p.Ala253=) | |
11 | g.128839537G>A | CA383244238 | KCNJ1 | c.707C>T (p.Ala236Val) c.764C>T (p.Ala255Val) c.758C>T (p.Ala253Val) | gnomAD v4 |
11 | g.128839537G>C | CA383244235 | KCNJ1 | c.707C>G (p.Ala236Gly) c.764C>G (p.Ala255Gly) c.758C>G (p.Ala253Gly) | |
11 | g.128839537G= | CA2008286663 | KCNJ1 | c.707C= (p.Ala236=) c.764C= (p.Ala255=) c.758C= (p.Ala253=) | |
11 | g.128839537G>T | CA383244237 | KCNJ1 | c.707C>A (p.Ala236Asp) c.764C>A (p.Ala255Asp) c.758C>A (p.Ala253Asp) | dbSNP |
11 | g.128839538C>A | CA230628276 | KCNJ1 | c.706G>T (p.Ala236Ser) c.763G>T (p.Ala255Ser) c.757G>T (p.Ala253Ser) | dbSNP |
11 | g.128839538C= | CA2008286665 | KCNJ1 | c.706G= (p.Ala236=) c.763G= (p.Ala255=) c.757G= (p.Ala253=) | |
11 | g.128839538C>G | CA383244244 | KCNJ1 | c.706G>C (p.Ala236Pro) c.763G>C (p.Ala255Pro) c.757G>C (p.Ala253Pro) | |
11 | g.128839538C>T | CA6357469 | KCNJ1 | c.706G>A (p.Ala236Thr) c.763G>A (p.Ala255Thr) c.757G>A (p.Ala253Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839539G>A | CA6357470 | KCNJ1 | c.705C>T (p.Asp235=) c.762C>T (p.Asp254=) c.756C>T (p.Asp252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839539G>C | CA383244250 | KCNJ1 | c.705C>G (p.Asp235Glu) c.762C>G (p.Asp254Glu) c.756C>G (p.Asp252Glu) | |
11 | g.128839539G= | CA2008286674 | KCNJ1 | c.705C= (p.Asp235=) c.762C= (p.Asp254=) c.756C= (p.Asp252=) | |
11 | g.128839539G>T | CA383244252 | KCNJ1 | c.705C>A (p.Asp235Glu) c.762C>A (p.Asp254Glu) c.756C>A (p.Asp252Glu) | |
11 | g.128839540T>A | CA383244256 | KCNJ1 | c.704A>T (p.Asp235Val) c.761A>T (p.Asp254Val) c.755A>T (p.Asp252Val) | |
11 | g.128839540T>C | CA383244258 | KCNJ1 | c.704A>G (p.Asp235Gly) c.761A>G (p.Asp254Gly) c.755A>G (p.Asp252Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839540T>G | CA383244260 | KCNJ1 | c.704A>C (p.Asp235Ala) c.761A>C (p.Asp254Ala) c.755A>C (p.Asp252Ala) | |
11 | g.128839540T= | CA2008286677 | KCNJ1 | c.704A= (p.Asp235=) c.761A= (p.Asp254=) c.755A= (p.Asp252=) | |
11 | g.128839541C>A | CA383244264 | KCNJ1 | c.703G>T (p.Asp235Tyr) c.760G>T (p.Asp254Tyr) c.754G>T (p.Asp252Tyr) | |
11 | g.128839541C= | CA2008286679 | KCNJ1 | c.703G= (p.Asp235=) c.760G= (p.Asp254=) c.754G= (p.Asp252=) | |
11 | g.128839541C>G | CA383244266 | KCNJ1 | c.703G>C (p.Asp235His) c.760G>C (p.Asp254His) c.754G>C (p.Asp252His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839541C>T | CA383244268 | KCNJ1 | c.703G>A (p.Asp235Asn) c.760G>A (p.Asp254Asn) c.754G>A (p.Asp252Asn) | gnomAD v4 |
11 | g.128839542A= | CA2008286682 | KCNJ1 | c.702T= (p.Val234=) c.759T= (p.Val253=) c.753T= (p.Val251=) | |
11 | g.128839542A>C | CA477703124 | KCNJ1 | c.702T>G (p.Val234=) c.759T>G (p.Val253=) c.753T>G (p.Val251=) | |
11 | g.128839542A>G | CA6357471 | KCNJ1 | c.702T>C (p.Val234=) c.759T>C (p.Val253=) c.753T>C (p.Val251=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839542A>T | CA477703125 | KCNJ1 | c.702T>A (p.Val234=) c.759T>A (p.Val253=) c.753T>A (p.Val251=) | |
11 | g.128839543A= | CA2008286683 | KCNJ1 | c.701T= (p.Val234=) c.758T= (p.Val253=) c.752T= (p.Val251=) | |
11 | g.128839543A>C | CA383244275 | KCNJ1 | c.701T>G (p.Val234Gly) c.758T>G (p.Val253Gly) c.752T>G (p.Val251Gly) | |
11 | g.128839543A>G | CA230628283 | KCNJ1 | c.701T>C (p.Val234Ala) c.758T>C (p.Val253Ala) c.752T>C (p.Val251Ala) | dbSNP |
11 | g.128839543A>T | CA383244278 | KCNJ1 | c.701T>A (p.Val234Asp) c.758T>A (p.Val253Asp) c.752T>A (p.Val251Asp) | |
11 | g.128839544C>A | CA383244281 | KCNJ1 | c.700G>T (p.Val234Phe) c.757G>T (p.Val253Phe) c.751G>T (p.Val251Phe) | |
11 | g.128839544C>G | CA383244286 | KCNJ1 | c.700G>C (p.Val234Leu) c.757G>C (p.Val253Leu) c.751G>C (p.Val251Leu) | |
11 | g.128839544C>T | CA383244284 | KCNJ1 | c.700G>A (p.Val234Ile) c.757G>A (p.Val253Ile) c.751G>A (p.Val251Ile) | |
11 | g.128839545T>A | CA477703127 | KCNJ1 | c.699A>T (p.Val233=) c.756A>T (p.Val252=) c.750A>T (p.Val250=) | |
11 | g.128839545T>C | CA477703128 | KCNJ1 | c.699A>G (p.Val233=) c.756A>G (p.Val252=) c.750A>G (p.Val250=) | COSMIC |
11 | g.128839545T>G | CA477703129 | KCNJ1 | c.699A>C (p.Val233=) c.756A>C (p.Val252=) c.750A>C (p.Val250=) | |
11 | g.128839546A>C | CA383244288 | KCNJ1 | c.698T>G (p.Val233Gly) c.755T>G (p.Val252Gly) c.749T>G (p.Val250Gly) | |
11 | g.128839546A>G | CA383244289 | KCNJ1 | c.698T>C (p.Val233Ala) c.755T>C (p.Val252Ala) c.749T>C (p.Val250Ala) | |
11 | g.128839546A>T | CA383244290 | KCNJ1 | c.698T>A (p.Val233Glu) c.755T>A (p.Val252Glu) c.749T>A (p.Val250Glu) | |
11 | g.128839547C>A | CA383244293 | KCNJ1 | c.697G>T (p.Val233Leu) c.754G>T (p.Val252Leu) c.748G>T (p.Val250Leu) | |
11 | g.128839547C>G | CA383244295 | KCNJ1 | c.697G>C (p.Val233Leu) c.754G>C (p.Val252Leu) c.748G>C (p.Val250Leu) | |
11 | g.128839547C>T | CA383244296 | KCNJ1 | c.697G>A (p.Val233Ile) c.754G>A (p.Val252Ile) c.748G>A (p.Val250Ile) | gnomAD v4 |
11 | g.128839548A>C | CA383244299 | KCNJ1 | c.696T>G (p.Phe232Leu) c.753T>G (p.Phe251Leu) c.747T>G (p.Phe249Leu) | |
11 | g.128839548A>G | CA477703135 | KCNJ1 | c.696T>C (p.Phe232=) c.753T>C (p.Phe251=) c.747T>C (p.Phe249=) | |
11 | g.128839548A>T | CA383244301 | KCNJ1 | c.696T>A (p.Phe232Leu) c.753T>A (p.Phe251Leu) c.747T>A (p.Phe249Leu) | |
11 | g.128839549A= | CA2008286685 | KCNJ1 | c.695T= (p.Phe232=) c.752T= (p.Phe251=) c.746T= (p.Phe249=) | |
11 | g.128839549A>C | CA383244304 | KCNJ1 | c.695T>G (p.Phe232Cys) c.752T>G (p.Phe251Cys) c.746T>G (p.Phe249Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839549A>G | CA383244306 | KCNJ1 | c.695T>C (p.Phe232Ser) c.752T>C (p.Phe251Ser) c.746T>C (p.Phe249Ser) | |
11 | g.128839549A>T | CA383244308 | KCNJ1 | c.695T>A (p.Phe232Tyr) c.752T>A (p.Phe251Tyr) c.746T>A (p.Phe249Tyr) | |
11 | g.128839550A>C | CA383244315 | KCNJ1 | c.694T>G (p.Phe232Val) c.751T>G (p.Phe251Val) c.745T>G (p.Phe249Val) | |
11 | g.128839550A>G | CA383244314 | KCNJ1 | c.694T>C (p.Phe232Leu) c.751T>C (p.Phe251Leu) c.745T>C (p.Phe249Leu) | |
11 | g.128839550A>T | CA383244312 | KCNJ1 | c.694T>A (p.Phe232Ile) c.751T>A (p.Phe251Ile) c.745T>A (p.Phe249Ile) | |
11 | g.128839551G>A | CA477703139 | KCNJ1 | c.693C>T (p.Asn231=) c.750C>T (p.Asn250=) c.744C>T (p.Asn248=) | gnomAD v4 |
11 | g.128839551G>C | CA230628285 | KCNJ1 | c.693C>G (p.Asn231Lys) c.750C>G (p.Asn250Lys) c.744C>G (p.Asn248Lys) | dbSNP |
11 | g.128839551G= | CA2008286687 | KCNJ1 | c.693C= (p.Asn231=) c.750C= (p.Asn250=) c.744C= (p.Asn248=) | |
11 | g.128839551G>T | CA383244319 | KCNJ1 | c.693C>A (p.Asn231Lys) c.750C>A (p.Asn250Lys) c.744C>A (p.Asn248Lys) | |
11 | g.128839552T>A | CA383244322 | KCNJ1 | c.692A>T (p.Asn231Ile) c.749A>T (p.Asn250Ile) c.743A>T (p.Asn248Ile) | |
11 | g.128839552T>C | CA6357472 | KCNJ1 | c.692A>G (p.Asn231Ser) c.749A>G (p.Asn250Ser) c.743A>G (p.Asn248Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839552T>G | CA383244325 | KCNJ1 | c.692A>C (p.Asn231Thr) c.749A>C (p.Asn250Thr) c.743A>C (p.Asn248Thr) | |
11 | g.128839552T= | CA2008286695 | KCNJ1 | c.692A= (p.Asn231=) c.749A= (p.Asn250=) c.743A= (p.Asn248=) | |
11 | g.128839553T>A | CA383244329 | KCNJ1 | c.691A>T (p.Asn231Tyr) c.748A>T (p.Asn250Tyr) c.742A>T (p.Asn248Tyr) | |
11 | g.128839553T>C | CA6357473 | KCNJ1 | c.691A>G (p.Asn231Asp) c.748A>G (p.Asn250Asp) c.742A>G (p.Asn248Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839553T>G | CA383244332 | KCNJ1 | c.691A>C (p.Asn231His) c.748A>C (p.Asn250His) c.742A>C (p.Asn248His) | |
11 | g.128839553T= | CA2008286698 | KCNJ1 | c.691A= (p.Asn231=) c.748A= (p.Asn250=) c.742A= (p.Asn248=) | |
11 | g.128839554G>A | CA477703143 | KCNJ1 | c.690C>T (p.Ile230=) c.747C>T (p.Ile249=) c.741C>T (p.Ile247=) | |
11 | g.128839554G>C | CA383244336 | KCNJ1 | c.690C>G (p.Ile230Met) c.747C>G (p.Ile249Met) c.741C>G (p.Ile247Met) | |
11 | g.128839554G>T | CA477703144 | KCNJ1 | c.690C>A (p.Ile230=) c.747C>A (p.Ile249=) c.741C>A (p.Ile247=) | |
11 | g.128839555A>C | CA383244339 | KCNJ1 | c.689T>G (p.Ile230Ser) c.746T>G (p.Ile249Ser) c.740T>G (p.Ile247Ser) | |
11 | g.128839555A>G | CA383244342 | KCNJ1 | c.689T>C (p.Ile230Thr) c.746T>C (p.Ile249Thr) c.740T>C (p.Ile247Thr) | |
11 | g.128839555A>T | CA383244343 | KCNJ1 | c.689T>A (p.Ile230Asn) c.746T>A (p.Ile249Asn) c.740T>A (p.Ile247Asn) | |
11 | g.128839556T>A | CA383244350 | KCNJ1 | c.688A>T (p.Ile230Phe) c.745A>T (p.Ile249Phe) c.739A>T (p.Ile247Phe) | |
11 | g.128839556T>C | CA383244348 | KCNJ1 | c.688A>G (p.Ile230Val) c.745A>G (p.Ile249Val) c.739A>G (p.Ile247Val) | gnomAD v4 |
11 | g.128839556T>G | CA383244346 | KCNJ1 | c.688A>C (p.Ile230Leu) c.745A>C (p.Ile249Leu) c.739A>C (p.Ile247Leu) | |
11 | g.128839557A>C | CA383244351 | KCNJ1 | c.687T>G (p.Asn229Lys) c.744T>G (p.Asn248Lys) c.738T>G (p.Asn246Lys) | |
11 | g.128839557A>G | CA477703152 | KCNJ1 | c.687T>C (p.Asn229=) c.744T>C (p.Asn248=) c.738T>C (p.Asn246=) | |
11 | g.128839557A>T | CA383244353 | KCNJ1 | c.687T>A (p.Asn229Lys) c.744T>A (p.Asn248Lys) c.738T>A (p.Asn246Lys) | |
11 | g.128839558T>A | CA383244356 | KCNJ1 | c.686A>T (p.Asn229Ile) c.743A>T (p.Asn248Ile) c.737A>T (p.Asn246Ile) | |
11 | g.128839558T>C | CA383244358 | KCNJ1 | c.686A>G (p.Asn229Ser) c.743A>G (p.Asn248Ser) c.737A>G (p.Asn246Ser) | |
11 | g.128839558T>G | CA383244360 | KCNJ1 | c.686A>C (p.Asn229Thr) c.743A>C (p.Asn248Thr) c.737A>C (p.Asn246Thr) | |
11 | g.128839559T>A | CA383244363 | KCNJ1 | c.685A>T (p.Asn229Tyr) c.742A>T (p.Asn248Tyr) c.736A>T (p.Asn246Tyr) | |
11 | g.128839559T>C | CA383244365 | KCNJ1 | c.685A>G (p.Asn229Asp) c.742A>G (p.Asn248Asp) c.736A>G (p.Asn246Asp) | gnomAD v4 |
11 | g.128839559T>G | CA383244368 | KCNJ1 | c.685A>C (p.Asn229His) c.742A>C (p.Asn248His) c.736A>C (p.Asn246His) | |
11 | g.128839560del | CA2616771383 | KCNJ1 | c.684del (p.Asn229IlefsTer5) c.741del (p.Asn248IlefsTer5) c.735del (p.Asn246IlefsTer5) | gnomAD v4 |
11 | g.128839560G>A | CA477703156 | KCNJ1 | c.684C>T (p.Ile228=) c.741C>T (p.Ile247=) c.735C>T (p.Ile245=) | |
11 | g.128839560G>C | CA383244371 | KCNJ1 | c.684C>G (p.Ile228Met) c.741C>G (p.Ile247Met) c.735C>G (p.Ile245Met) | |
11 | g.128839560G>T | CA477703157 | KCNJ1 | c.684C>A (p.Ile228=) c.741C>A (p.Ile247=) c.735C>A (p.Ile245=) |