Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839906A= | CA2008251271 | KCNJ1 | c.338T= (p.Phe113=) c.395T= (p.Phe132=) c.389T= (p.Phe130=) | |
11 | g.128839906A>C | CA383245845 | KCNJ1 | c.338T>G (p.Phe113Cys) c.395T>G (p.Phe132Cys) c.389T>G (p.Phe130Cys) | |
11 | g.128839906A>G | CA383245848 | KCNJ1 | c.338T>C (p.Phe113Ser) c.395T>C (p.Phe132Ser) c.389T>C (p.Phe130Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839906A>T | CA383245852 | KCNJ1 | c.338T>A (p.Phe113Tyr) c.395T>A (p.Phe132Tyr) c.389T>A (p.Phe130Tyr) | |
11 | g.128839907A= | CA2008251272 | KCNJ1 | c.337T= (p.Phe113=) c.394T= (p.Phe132=) c.388T= (p.Phe130=) | |
11 | g.128839907A>C | CA383245863 | KCNJ1 | c.337T>G (p.Phe113Val) c.394T>G (p.Phe132Val) c.388T>G (p.Phe130Val) | |
11 | g.128839907A>G | CA6357531 | KCNJ1 | c.337T>C (p.Phe113Leu) c.394T>C (p.Phe132Leu) c.388T>C (p.Phe130Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839907A>T | CA383245858 | KCNJ1 | c.337T>A (p.Phe113Ile) c.394T>A (p.Phe132Ile) c.388T>A (p.Phe130Ile) | |
11 | g.128839908A>C | CA477703613 | KCNJ1 | c.336T>G (p.Ala112=) c.393T>G (p.Ala131=) c.387T>G (p.Ala129=) | |
11 | g.128839908A>G | CA477703614 | KCNJ1 | c.336T>C (p.Ala112=) c.393T>C (p.Ala131=) c.387T>C (p.Ala129=) | |
11 | g.128839908A>T | CA477703615 | KCNJ1 | c.336T>A (p.Ala112=) c.393T>A (p.Ala131=) c.387T>A (p.Ala129=) | |
11 | g.128839909G>A | CA383245867 | KCNJ1 | c.335C>T (p.Ala112Val) c.392C>T (p.Ala131Val) c.386C>T (p.Ala129Val) | |
11 | g.128839909G>C | CA383245871 | KCNJ1 | c.335C>G (p.Ala112Gly) c.392C>G (p.Ala131Gly) c.386C>G (p.Ala129Gly) | gnomAD v4 |
11 | g.128839909G>T | CA383245874 | KCNJ1 | c.335C>A (p.Ala112Asp) c.392C>A (p.Ala131Asp) c.386C>A (p.Ala129Asp) | |
11 | g.128839910C>A | CA383245879 | KCNJ1 | c.334G>T (p.Ala112Ser) c.391G>T (p.Ala131Ser) c.385G>T (p.Ala129Ser) | |
11 | g.128839910C>G | CA383245882 | KCNJ1 | c.334G>C (p.Ala112Pro) c.391G>C (p.Ala131Pro) c.385G>C (p.Ala129Pro) | |
11 | g.128839910C>T | CA383245886 | KCNJ1 | c.334G>A (p.Ala112Thr) c.391G>A (p.Ala131Thr) c.385G>A (p.Ala129Thr) | |
11 | g.128839911T>A | CA477703620 | KCNJ1 | c.333A>T (p.Ser111=) c.390A>T (p.Ser130=) c.384A>T (p.Ser128=) | |
11 | g.128839911T>C | CA477703621 | KCNJ1 | c.333A>G (p.Ser111=) c.390A>G (p.Ser130=) c.384A>G (p.Ser128=) | |
11 | g.128839911T>G | CA477703623 | KCNJ1 | c.333A>C (p.Ser111=) c.390A>C (p.Ser130=) c.384A>C (p.Ser128=) | dbSNP |
11 | g.128839911T= | CA2008251276 | KCNJ1 | c.333A= (p.Ser111=) c.390A= (p.Ser130=) c.384A= (p.Ser128=) | |
11 | g.128839912G>A | CA383245892 | KCNJ1 | c.332C>T (p.Ser111Leu) c.389C>T (p.Ser130Leu) c.383C>T (p.Ser128Leu) | |
11 | g.128839912G>C | CA383245897 | KCNJ1 | c.332C>G (p.Ser111Ter) c.389C>G (p.Ser130Ter) c.383C>G (p.Ser128Ter) | |
11 | g.128839912G>T | CA383245894 | KCNJ1 | c.332C>A (p.Ser111Ter) c.389C>A (p.Ser130Ter) c.383C>A (p.Ser128Ter) | |
11 | g.128839913A>C | CA383245904 | KCNJ1 | c.331T>G (p.Ser111Ala) c.388T>G (p.Ser130Ala) c.382T>G (p.Ser128Ala) | |
11 | g.128839913A>G | CA383245906 | KCNJ1 | c.331T>C (p.Ser111Pro) c.388T>C (p.Ser130Pro) c.382T>C (p.Ser128Pro) | |
11 | g.128839913A>T | CA383245911 | KCNJ1 | c.331T>A (p.Ser111Thr) c.388T>A (p.Ser130Thr) c.382T>A (p.Ser128Thr) | |
11 | g.128839914G>A | CA230628761 | KCNJ1 | c.330C>T (p.Thr110=) c.387C>T (p.Thr129=) c.381C>T (p.Thr127=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839914G>C | CA477703031 | KCNJ1 | c.330C>G (p.Thr110=) c.387C>G (p.Thr129=) c.381C>G (p.Thr127=) | |
11 | g.128839914G= | CA2008251277 | KCNJ1 | c.330C= (p.Thr110=) c.387C= (p.Thr129=) c.381C= (p.Thr127=) | |
11 | g.128839914G>T | CA477703032 | KCNJ1 | c.330C>A (p.Thr110=) c.387C>A (p.Thr129=) c.381C>A (p.Thr127=) | |
11 | g.128839915G>A | CA6357532 | KCNJ1 | c.329C>T (p.Thr110Ile) c.386C>T (p.Thr129Ile) c.380C>T (p.Thr127Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839915G>C | CA383245940 | KCNJ1 | c.329C>G (p.Thr110Ser) c.386C>G (p.Thr129Ser) c.380C>G (p.Thr127Ser) | |
11 | g.128839915G= | CA2008251280 | KCNJ1 | c.329C= (p.Thr110=) c.386C= (p.Thr129=) c.380C= (p.Thr127=) | |
11 | g.128839915G>T | CA383245942 | KCNJ1 | c.329C>A (p.Thr110Asn) c.386C>A (p.Thr129Asn) c.380C>A (p.Thr127Asn) | |
11 | g.128839916T>A | CA383245944 | KCNJ1 | c.328A>T (p.Thr110Ser) c.385A>T (p.Thr129Ser) c.379A>T (p.Thr127Ser) | gnomAD v4 |
11 | g.128839916T>C | CA6357533 | KCNJ1 | c.328A>G (p.Thr110Ala) c.385A>G (p.Thr129Ala) c.379A>G (p.Thr127Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839916T>G | CA383245950 | KCNJ1 | c.328A>C (p.Thr110Pro) c.385A>C (p.Thr129Pro) c.379A>C (p.Thr127Pro) | |
11 | g.128839916T= | CA2008251285 | KCNJ1 | c.328A= (p.Thr110=) c.385A= (p.Thr129=) c.379A= (p.Thr127=) | |
11 | g.128839917C>A | CA383245956 | KCNJ1 | c.327G>T (p.Leu109Phe) c.384G>T (p.Leu128Phe) c.378G>T (p.Leu126Phe) | dbSNP gnomAD v2 |
11 | g.128839917C= | CA2008251286 | KCNJ1 | c.327G= (p.Leu109=) c.384G= (p.Leu128=) c.378G= (p.Leu126=) | |
11 | g.128839917C>G | CA383245964 | KCNJ1 | c.327G>C (p.Leu109Phe) c.384G>C (p.Leu128Phe) c.378G>C (p.Leu126Phe) | |
11 | g.128839917C>T | CA477703035 | KCNJ1 | c.327G>A (p.Leu109=) c.384G>A (p.Leu128=) c.378G>A (p.Leu126=) | |
11 | g.128839918A= | CA2008251287 | KCNJ1 | c.326T= (p.Leu109=) c.383T= (p.Leu128=) c.377T= (p.Leu126=) | |
11 | g.128839918A>C | CA383245967 | KCNJ1 | c.326T>G (p.Leu109Trp) c.383T>G (p.Leu128Trp) c.377T>G (p.Leu126Trp) | |
11 | g.128839918A>G | CA383245968 | KCNJ1 | c.326T>C (p.Leu109Ser) c.383T>C (p.Leu128Ser) c.377T>C (p.Leu126Ser) | dbSNP gnomAD v2 |
11 | g.128839918A>T | CA383245969 | KCNJ1 | c.326T>A (p.Leu109Ter) c.383T>A (p.Leu128Ter) c.377T>A (p.Leu126Ter) | |
11 | g.128839919A>C | CA383245971 | KCNJ1 | c.325T>G (p.Leu109Val) c.382T>G (p.Leu128Val) c.376T>G (p.Leu126Val) | |
11 | g.128839919A>G | CA477703039 | KCNJ1 | c.325T>C (p.Leu109=) c.382T>C (p.Leu128=) c.376T>C (p.Leu126=) | |
11 | g.128839919A>T | CA383245974 | KCNJ1 | c.325T>A (p.Leu109Met) c.382T>A (p.Leu128Met) c.376T>A (p.Leu126Met) | |
11 | g.128839920G>A | CA477703042 | KCNJ1 | c.324C>T (p.Gly108=) c.381C>T (p.Gly127=) c.375C>T (p.Gly125=) | gnomAD v4 |
11 | g.128839920G>C | CA477703040 | KCNJ1 | c.324C>G (p.Gly108=) c.381C>G (p.Gly127=) c.375C>G (p.Gly125=) | |
11 | g.128839920G>T | CA477703041 | KCNJ1 | c.324C>A (p.Gly108=) c.381C>A (p.Gly127=) c.375C>A (p.Gly125=) | |
11 | g.128839921C>A | CA383245986 | KCNJ1 | c.323G>T (p.Gly108Val) c.380G>T (p.Gly127Val) c.374G>T (p.Gly125Val) | |
11 | g.128839921C= | CA2008251290 | KCNJ1 | c.323G= (p.Gly108=) c.380G= (p.Gly127=) c.374G= (p.Gly125=) | |
11 | g.128839921C>G | CA383245988 | KCNJ1 | c.323G>C (p.Gly108Ala) c.380G>C (p.Gly127Ala) c.374G>C (p.Gly125Ala) | |
11 | g.128839921C>T | CA383245991 | KCNJ1 | c.323G>A (p.Gly108Asp) c.380G>A (p.Gly127Asp) c.374G>A (p.Gly125Asp) | dbSNP gnomAD v4 |
11 | g.128839922C>A | CA383245995 | KCNJ1 | c.322G>T (p.Gly108Cys) c.379G>T (p.Gly127Cys) c.373G>T (p.Gly125Cys) | |
11 | g.128839922C= | CA2008251293 | KCNJ1 | c.322G= (p.Gly108=) c.379G= (p.Gly127=) c.373G= (p.Gly125=) | |
11 | g.128839922C>G | CA383245999 | KCNJ1 | c.322G>C (p.Gly108Arg) c.379G>C (p.Gly127Arg) c.373G>C (p.Gly125Arg) | |
11 | g.128839922C>T | CA6357534 | KCNJ1 | c.322G>A (p.Gly108Ser) c.379G>A (p.Gly127Ser) c.373G>A (p.Gly125Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839923A= | CA2008251297 | KCNJ1 | c.321T= (p.Asn107=) c.378T= (p.Asn126=) c.372T= (p.Asn124=) | |
11 | g.128839923A>C | CA383246012 | KCNJ1 | c.321T>G (p.Asn107Lys) c.378T>G (p.Asn126Lys) c.372T>G (p.Asn124Lys) | |
11 | g.128839923A>G | CA230628778 | KCNJ1 | c.321T>C (p.Asn107=) c.378T>C (p.Asn126=) c.372T>C (p.Asn124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839923A>T | CA383246014 | KCNJ1 | c.321T>A (p.Asn107Lys) c.378T>A (p.Asn126Lys) c.372T>A (p.Asn124Lys) | |
11 | g.128839924T>A | CA383246017 | KCNJ1 | c.320A>T (p.Asn107Ile) c.377A>T (p.Asn126Ile) c.371A>T (p.Asn124Ile) | |
11 | g.128839924T>C | CA383246019 | KCNJ1 | c.320A>G (p.Asn107Ser) c.377A>G (p.Asn126Ser) c.371A>G (p.Asn124Ser) | |
11 | g.128839924T>G | CA383246022 | KCNJ1 | c.320A>C (p.Asn107Thr) c.377A>C (p.Asn126Thr) c.371A>C (p.Asn124Thr) | |
11 | g.128839925T>A | CA383246034 | KCNJ1 | c.319A>T (p.Asn107Tyr) c.376A>T (p.Asn126Tyr) c.370A>T (p.Asn124Tyr) | dbSNP gnomAD v4 |
11 | g.128839925T>C | CA383246031 | KCNJ1 | c.319A>G (p.Asn107Asp) c.376A>G (p.Asn126Asp) c.370A>G (p.Asn124Asp) | |
11 | g.128839925T>G | CA383246027 | KCNJ1 | c.319A>C (p.Asn107His) c.376A>C (p.Asn126His) c.370A>C (p.Asn124His) | |
11 | g.128839925T= | CA2008251301 | KCNJ1 | c.319A= (p.Asn107=) c.376A= (p.Asn126=) c.370A= (p.Asn124=) | |
11 | g.128839926A= | CA2008251304 | KCNJ1 | c.318T= (p.Ile106=) c.375T= (p.Ile125=) c.369T= (p.Ile123=) | |
11 | g.128839926A>C | CA383246038 | KCNJ1 | c.318T>G (p.Ile106Met) c.375T>G (p.Ile125Met) c.369T>G (p.Ile123Met) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839926A>G | CA477703048 | KCNJ1 | c.318T>C (p.Ile106=) c.375T>C (p.Ile125=) c.369T>C (p.Ile123=) | dbSNP gnomAD v4 |
11 | g.128839926A>T | CA477703049 | KCNJ1 | c.318T>A (p.Ile106=) c.375T>A (p.Ile125=) c.369T>A (p.Ile123=) | |
11 | g.128839927A>C | CA383246046 | KCNJ1 | c.317T>G (p.Ile106Ser) c.374T>G (p.Ile125Ser) c.368T>G (p.Ile123Ser) | |
11 | g.128839927A>G | CA383246041 | KCNJ1 | c.317T>C (p.Ile106Thr) c.374T>C (p.Ile125Thr) c.368T>C (p.Ile123Thr) | |
11 | g.128839927A>T | CA383246047 | KCNJ1 | c.317T>A (p.Ile106Asn) c.374T>A (p.Ile125Asn) c.368T>A (p.Ile123Asn) | |
11 | g.128839927_128839930delinsATAT | CA2008251307 | KCNJ1 | c.314_317delinsATAT (p.Asn105=) c.371_374delinsATAT (p.Asn124=) c.365_368delinsATAT (p.Asn122=) | |
11 | g.128839928T>A | CA383246048 | KCNJ1 | c.316A>T (p.Ile106Phe) c.373A>T (p.Ile125Phe) c.367A>T (p.Ile123Phe) | |
11 | g.128839928T>C | CA383246049 | KCNJ1 | c.316A>G (p.Ile106Val) c.373A>G (p.Ile125Val) c.367A>G (p.Ile123Val) | gnomAD v4 |
11 | g.128839928T>G | CA383246052 | KCNJ1 | c.316A>C (p.Ile106Leu) c.373A>C (p.Ile125Leu) c.367A>C (p.Ile123Leu) | |
11 | g.128839929_128839931del | CA602585822 | KCNJ1 | c.314_316del (p.Asn105del) c.371_373del (p.Asn124del) c.365_367del (p.Asn122del) | dbSNP gnomAD v2 |
11 | g.128839929A= | CA2008251317 | KCNJ1 | c.315T= (p.Asn105=) c.372T= (p.Asn124=) c.366T= (p.Asn122=) | |
11 | g.128839929A>C | CA383246056 | KCNJ1 | c.315T>G (p.Asn105Lys) c.372T>G (p.Asn124Lys) c.366T>G (p.Asn122Lys) | |
11 | g.128839929A>G | CA230628785 | KCNJ1 | c.315T>C (p.Asn105=) c.372T>C (p.Asn124=) c.366T>C (p.Asn122=) | ClinVar dbSNP |
11 | g.128839929A>T | CA120164 | KCNJ1 | c.315T>A (p.Asn105Lys) c.372T>A (p.Asn124Lys) c.366T>A (p.Asn122Lys) | ClinVar dbSNP |
11 | g.128839930T>A | CA383246057 | KCNJ1 | c.314A>T (p.Asn105Ile) c.371A>T (p.Asn124Ile) c.365A>T (p.Asn122Ile) | |
11 | g.128839930T>C | CA383246060 | KCNJ1 | c.314A>G (p.Asn105Ser) c.371A>G (p.Asn124Ser) c.365A>G (p.Asn122Ser) | dbSNP |
11 | g.128839930T>G | CA383246062 | KCNJ1 | c.314A>C (p.Asn105Thr) c.371A>C (p.Asn124Thr) c.365A>C (p.Asn122Thr) | |
11 | g.128839930T= | CA2008251321 | KCNJ1 | c.314A= (p.Asn105=) c.371A= (p.Asn124=) c.365A= (p.Asn122=) | |
11 | g.128839931T>A | CA383246063 | KCNJ1 | c.313A>T (p.Asn105Tyr) c.370A>T (p.Asn124Tyr) c.364A>T (p.Asn122Tyr) | |
11 | g.128839931T>C | CA383246064 | KCNJ1 | c.313A>G (p.Asn105Asp) c.370A>G (p.Asn124Asp) c.364A>G (p.Asn122Asp) | dbSNP |
11 | g.128839931T>G | CA383246065 | KCNJ1 | c.313A>C (p.Asn105His) c.370A>C (p.Asn124His) c.364A>C (p.Asn122His) | |
11 | g.128839931T= | CA2008251327 | KCNJ1 | c.313A= (p.Asn105=) c.370A= (p.Asn124=) c.364A= (p.Asn122=) | |
11 | g.128839932C>A | CA383246071 | KCNJ1 | c.312G>T (p.Glu104Asp) c.369G>T (p.Glu123Asp) c.363G>T (p.Glu121Asp) | |
11 | g.128839932C>G | CA383246068 | KCNJ1 | c.312G>C (p.Glu104Asp) c.369G>C (p.Glu123Asp) c.363G>C (p.Glu121Asp) | |
11 | g.128839932C>T | CA477703052 | KCNJ1 | c.312G>A (p.Glu104=) c.369G>A (p.Glu123=) c.363G>A (p.Glu121=) | |
11 | g.128839933T>A | CA383246074 | KCNJ1 | c.311A>T (p.Glu104Val) c.368A>T (p.Glu123Val) c.362A>T (p.Glu121Val) | |
11 | g.128839933T>C | CA383246076 | KCNJ1 | c.311A>G (p.Glu104Gly) c.368A>G (p.Glu123Gly) c.362A>G (p.Glu121Gly) | |
11 | g.128839933T>G | CA383246079 | KCNJ1 | c.311A>C (p.Glu104Ala) c.368A>C (p.Glu123Ala) c.362A>C (p.Glu121Ala) | |
11 | g.128839934C>A | CA383246083 | KCNJ1 | c.310G>T (p.Glu104Ter) c.367G>T (p.Glu123Ter) c.361G>T (p.Glu121Ter) | |
11 | g.128839934C= | CA2008251328 | KCNJ1 | c.310G= (p.Glu104=) c.367G= (p.Glu123=) c.361G= (p.Glu121=) | |
11 | g.128839934C>G | CA383246087 | KCNJ1 | c.310G>C (p.Glu104Gln) c.367G>C (p.Glu123Gln) c.361G>C (p.Glu121Gln) | |
11 | g.128839934C>T | CA383246092 | KCNJ1 | c.310G>A (p.Glu104Lys) c.367G>A (p.Glu123Lys) c.361G>A (p.Glu121Lys) | dbSNP gnomAD v4 |
11 | g.128839935C>A | CA477703054 | KCNJ1 | c.309G>T (p.Val103=) c.366G>T (p.Val122=) c.360G>T (p.Val120=) | |
11 | g.128839935C>G | CA477703055 | KCNJ1 | c.309G>C (p.Val103=) c.366G>C (p.Val122=) c.360G>C (p.Val120=) | |
11 | g.128839935C>T | CA477703056 | KCNJ1 | c.309G>A (p.Val103=) c.366G>A (p.Val122=) c.360G>A (p.Val120=) | |
11 | g.128839936A= | CA2008251333 | KCNJ1 | c.308T= (p.Val103=) c.365T= (p.Val122=) c.359T= (p.Val120=) | |
11 | g.128839936A>C | CA383246099 | KCNJ1 | c.308T>G (p.Val103Gly) c.365T>G (p.Val122Gly) c.359T>G (p.Val120Gly) | |
11 | g.128839936A>G | CA6357535 | KCNJ1 | c.308T>C (p.Val103Ala) c.365T>C (p.Val122Ala) c.359T>C (p.Val120Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839936A>T | CA383246103 | KCNJ1 | c.308T>A (p.Val103Glu) c.365T>A (p.Val122Glu) c.359T>A (p.Val120Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839937C>A | CA383246110 | KCNJ1 | c.307G>T (p.Val103Leu) c.364G>T (p.Val122Leu) c.358G>T (p.Val120Leu) | |
11 | g.128839937C>G | CA383246111 | KCNJ1 | c.307G>C (p.Val103Leu) c.364G>C (p.Val122Leu) c.358G>C (p.Val120Leu) | |
11 | g.128839937C>T | CA383246114 | KCNJ1 | c.307G>A (p.Val103Met) c.364G>A (p.Val122Met) c.358G>A (p.Val120Met) | gnomAD v4 |
11 | g.128839938A>C | CA383246120 | KCNJ1 | c.306T>G (p.Cys102Trp) c.363T>G (p.Cys121Trp) c.357T>G (p.Cys119Trp) | |
11 | g.128839938A>G | CA477703060 | KCNJ1 | c.306T>C (p.Cys102=) c.363T>C (p.Cys121=) c.357T>C (p.Cys119=) | |
11 | g.128839938A>T | CA383246119 | KCNJ1 | c.306T>A (p.Cys102Ter) c.363T>A (p.Cys121Ter) c.357T>A (p.Cys119Ter) | |
11 | g.128839939C>A | CA383246124 | KCNJ1 | c.305G>T (p.Cys102Phe) c.362G>T (p.Cys121Phe) c.356G>T (p.Cys119Phe) | |
11 | g.128839939C= | CA2008251367 | KCNJ1 | c.305G= (p.Cys102=) c.362G= (p.Cys121=) c.356G= (p.Cys119=) | |
11 | g.128839939C>G | CA383246127 | KCNJ1 | c.305G>C (p.Cys102Ser) c.362G>C (p.Cys121Ser) c.356G>C (p.Cys119Ser) | |
11 | g.128839939C>T | CA383246128 | KCNJ1 | c.305G>A (p.Cys102Tyr) c.362G>A (p.Cys121Tyr) c.356G>A (p.Cys119Tyr) | ClinVar dbSNP gnomAD v4 |
11 | g.128839940A= | CA2008251375 | KCNJ1 | c.304T= (p.Cys102=) c.361T= (p.Cys121=) c.355T= (p.Cys119=) | |
11 | g.128839940A>C | CA383246130 | KCNJ1 | c.304T>G (p.Cys102Gly) c.361T>G (p.Cys121Gly) c.355T>G (p.Cys119Gly) | |
11 | g.128839940A>G | CA383246131 | KCNJ1 | c.304T>C (p.Cys102Arg) c.361T>C (p.Cys121Arg) c.355T>C (p.Cys119Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839940A>T | CA383246132 | KCNJ1 | c.304T>A (p.Cys102Ser) c.361T>A (p.Cys121Ser) c.355T>A (p.Cys119Ser) | |
11 | g.128839941G>A | CA477703065 | KCNJ1 | c.303C>T (p.Pro101=) c.360C>T (p.Pro120=) c.354C>T (p.Pro118=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839941G>C | CA477703066 | KCNJ1 | c.303C>G (p.Pro101=) c.360C>G (p.Pro120=) c.354C>G (p.Pro118=) | gnomAD v4 |
11 | g.128839941G= | CA2008251378 | KCNJ1 | c.303C= (p.Pro101=) c.360C= (p.Pro120=) c.354C= (p.Pro118=) | |
11 | g.128839941G>T | CA477703064 | KCNJ1 | c.303C>A (p.Pro101=) c.360C>A (p.Pro120=) c.354C>A (p.Pro118=) | |
11 | g.128839943del | CA2616771386 | KCNJ1 | c.303del (p.Cys102ValfsTer8) c.360del (p.Cys121ValfsTer8) c.354del (p.Cys119ValfsTer8) | gnomAD v4 |
11 | g.128839942G>A | CA230628822 | KCNJ1 | c.302C>T (p.Pro101Leu) c.359C>T (p.Pro120Leu) c.353C>T (p.Pro118Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.128839942G>C | CA383246135 | KCNJ1 | c.302C>G (p.Pro101Arg) c.359C>G (p.Pro120Arg) c.353C>G (p.Pro118Arg) | |
11 | g.128839942G= | CA2008251386 | KCNJ1 | c.302C= (p.Pro101=) c.359C= (p.Pro120=) c.353C= (p.Pro118=) | |
11 | g.128839942G>T | CA383246149 | KCNJ1 | c.302C>A (p.Pro101His) c.359C>A (p.Pro120His) c.353C>A (p.Pro118His) | |
11 | g.128839943G>A | CA383246152 | KCNJ1 | c.301C>T (p.Pro101Ser) c.358C>T (p.Pro120Ser) c.352C>T (p.Pro118Ser) | dbSNP gnomAD v4 |
11 | g.128839943G>C | CA383246153 | KCNJ1 | c.301C>G (p.Pro101Ala) c.358C>G (p.Pro120Ala) c.352C>G (p.Pro118Ala) | |
11 | g.128839943G= | CA2008251393 | KCNJ1 | c.301C= (p.Pro101=) c.358C= (p.Pro120=) c.352C= (p.Pro118=) | |
11 | g.128839943G>T | CA383246154 | KCNJ1 | c.301C>A (p.Pro101Thr) c.358C>A (p.Pro120Thr) c.352C>A (p.Pro118Thr) | |
11 | g.128839943_128839955delinsGAGTGTGATTGGC | CA2008251390 | KCNJ1 | c.289_301delinsGCCAATCACACTC (p.Ala97=) c.346_358delinsGCCAATCACACTC (p.Ala116=) c.340_352delinsGCCAATCACACTC (p.Ala114=) | |
11 | g.128839944A>C | CA477703070 | KCNJ1 | c.300T>G (p.Thr100=) c.357T>G (p.Thr119=) c.351T>G (p.Thr117=) | gnomAD v4 |
11 | g.128839944A>G | CA477703072 | KCNJ1 | c.300T>C (p.Thr100=) c.357T>C (p.Thr119=) c.351T>C (p.Thr117=) | |
11 | g.128839944A>T | CA477703071 | KCNJ1 | c.300T>A (p.Thr100=) c.357T>A (p.Thr119=) c.351T>A (p.Thr117=) | |
11 | g.128839946_128839957del | CA6357536 | KCNJ1 | c.289_300del (p.Ala97_Thr100del) c.346_357del (p.Ala116_Thr119del) c.340_351del (p.Ala114_Thr117del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839945G>A | CA383246164 | KCNJ1 | c.299C>T (p.Thr100Ile) c.356C>T (p.Thr119Ile) c.350C>T (p.Thr117Ile) | |
11 | g.128839945G>C | CA383246159 | KCNJ1 | c.299C>G (p.Thr100Ser) c.356C>G (p.Thr119Ser) c.350C>G (p.Thr117Ser) | |
11 | g.128839945G>T | CA383246162 | KCNJ1 | c.299C>A (p.Thr100Asn) c.356C>A (p.Thr119Asn) c.350C>A (p.Thr117Asn) | |
11 | g.128839946T>A | CA383246166 | KCNJ1 | c.298A>T (p.Thr100Ser) c.355A>T (p.Thr119Ser) c.349A>T (p.Thr117Ser) | |
11 | g.128839946T>C | CA6357537 | KCNJ1 | c.298A>G (p.Thr100Ala) c.355A>G (p.Thr119Ala) c.349A>G (p.Thr117Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839946T>G | CA383246171 | KCNJ1 | c.298A>C (p.Thr100Pro) c.355A>C (p.Thr119Pro) c.349A>C (p.Thr117Pro) | |
11 | g.128839946T= | CA2008251397 | KCNJ1 | c.298A= (p.Thr100=) c.355A= (p.Thr119=) c.349A= (p.Thr117=) | |
11 | g.128839947G>A | CA477703074 | KCNJ1 | c.297C>T (p.His99=) c.354C>T (p.His118=) c.348C>T (p.His116=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839947G>C | CA383246173 | KCNJ1 | c.297C>G (p.His99Gln) c.354C>G (p.His118Gln) c.348C>G (p.His116Gln) | |
11 | g.128839947G= | CA2008251401 | KCNJ1 | c.297C= (p.His99=) c.354C= (p.His118=) c.348C= (p.His116=) | |
11 | g.128839947G>T | CA383246175 | KCNJ1 | c.297C>A (p.His99Gln) c.354C>A (p.His118Gln) c.348C>A (p.His116Gln) | |
11 | g.128839948T>A | CA383246179 | KCNJ1 | c.296A>T (p.His99Leu) c.353A>T (p.His118Leu) c.347A>T (p.His116Leu) | |
11 | g.128839948T>C | CA6357538 | KCNJ1 | c.296A>G (p.His99Arg) c.353A>G (p.His118Arg) c.347A>G (p.His116Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839948T>G | CA383246181 | KCNJ1 | c.296A>C (p.His99Pro) c.353A>C (p.His118Pro) c.347A>C (p.His116Pro) | |
11 | g.128839948T= | CA2008251405 | KCNJ1 | c.296A= (p.His99=) c.353A= (p.His118=) c.347A= (p.His116=) | |
11 | g.128839949G>A | CA6357539 | KCNJ1 | c.295C>T (p.His99Tyr) c.352C>T (p.His118Tyr) c.346C>T (p.His116Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839949G>C | CA383246186 | KCNJ1 | c.295C>G (p.His99Asp) c.352C>G (p.His118Asp) c.346C>G (p.His116Asp) | |
11 | g.128839949G= | CA2008251408 | KCNJ1 | c.295C= (p.His99=) c.352C= (p.His118=) c.346C= (p.His116=) | |
11 | g.128839949G>T | CA383246188 | KCNJ1 | c.295C>A (p.His99Asn) c.352C>A (p.His118Asn) c.346C>A (p.His116Asn) | |
11 | g.128839950A>C | CA383246193 | KCNJ1 | c.294T>G (p.Asn98Lys) c.351T>G (p.Asn117Lys) c.345T>G (p.Asn115Lys) | ClinVar gnomAD v4 |
11 | g.128839950A>G | CA477703075 | KCNJ1 | c.294T>C (p.Asn98=) c.351T>C (p.Asn117=) c.345T>C (p.Asn115=) | |
11 | g.128839950A>T | CA383246195 | KCNJ1 | c.294T>A (p.Asn98Lys) c.351T>A (p.Asn117Lys) c.345T>A (p.Asn115Lys) | |
11 | g.128839951T>A | CA383246197 | KCNJ1 | c.293A>T (p.Asn98Ile) c.350A>T (p.Asn117Ile) c.344A>T (p.Asn115Ile) | |
11 | g.128839951T>C | CA6357540 | KCNJ1 | c.293A>G (p.Asn98Ser) c.350A>G (p.Asn117Ser) c.344A>G (p.Asn115Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839951T>G | CA383246196 | KCNJ1 | c.293A>C (p.Asn98Thr) c.350A>C (p.Asn117Thr) c.344A>C (p.Asn115Thr) | gnomAD v4 |
11 | g.128839951T= | CA2008251415 | KCNJ1 | c.293A= (p.Asn98=) c.350A= (p.Asn117=) c.344A= (p.Asn115=) | |
11 | g.128839952T>A | CA383246202 | KCNJ1 | c.292A>T (p.Asn98Tyr) c.349A>T (p.Asn117Tyr) c.343A>T (p.Asn115Tyr) | |
11 | g.128839952T>C | CA383246199 | KCNJ1 | c.292A>G (p.Asn98Asp) c.349A>G (p.Asn117Asp) c.343A>G (p.Asn115Asp) | |
11 | g.128839952T>G | CA383246200 | KCNJ1 | c.292A>C (p.Asn98His) c.349A>C (p.Asn117His) c.343A>C (p.Asn115His) | |
11 | g.128839953G>A | CA477703079 | KCNJ1 | c.291C>T (p.Ala97=) c.348C>T (p.Ala116=) c.342C>T (p.Ala114=) | gnomAD v4 |
11 | g.128839953G>C | CA477703081 | KCNJ1 | c.291C>G (p.Ala97=) c.348C>G (p.Ala116=) c.342C>G (p.Ala114=) | |
11 | g.128839953G>T | CA477703082 | KCNJ1 | c.291C>A (p.Ala97=) c.348C>A (p.Ala116=) c.342C>A (p.Ala114=) | |
11 | g.128839954G>A | CA383246207 | KCNJ1 | c.290C>T (p.Ala97Val) c.347C>T (p.Ala116Val) c.341C>T (p.Ala114Val) | |
11 | g.128839954G>C | CA383246209 | KCNJ1 | c.290C>G (p.Ala97Gly) c.347C>G (p.Ala116Gly) c.341C>G (p.Ala114Gly) | COSMIC |
11 | g.128839954G>T | CA383246210 | KCNJ1 | c.290C>A (p.Ala97Asp) c.347C>A (p.Ala116Asp) c.341C>A (p.Ala114Asp) | |
11 | g.128839955C>A | CA383246215 | KCNJ1 | c.289G>T (p.Ala97Ser) c.346G>T (p.Ala116Ser) c.340G>T (p.Ala114Ser) | dbSNP gnomAD v4 |
11 | g.128839955C= | CA2008251418 | KCNJ1 | c.289G= (p.Ala97=) c.346G= (p.Ala116=) c.340G= (p.Ala114=) | |
11 | g.128839955C>G | CA383246214 | KCNJ1 | c.289G>C (p.Ala97Pro) c.346G>C (p.Ala116Pro) c.340G>C (p.Ala114Pro) | |
11 | g.128839955C>T | CA383246213 | KCNJ1 | c.289G>A (p.Ala97Thr) c.346G>A (p.Ala116Thr) c.340G>A (p.Ala114Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839956A>C | CA477703087 | KCNJ1 | c.288T>G (p.Ser96=) c.345T>G (p.Ser115=) c.339T>G (p.Ser113=) | |
11 | g.128839956A>G | CA477703088 | KCNJ1 | c.288T>C (p.Ser96=) c.345T>C (p.Ser115=) c.339T>C (p.Ser113=) | |
11 | g.128839956A>T | CA477703089 | KCNJ1 | c.288T>A (p.Ser96=) c.345T>A (p.Ser115=) c.339T>A (p.Ser113=) | |
11 | g.128839957G>A | CA383246217 | KCNJ1 | c.287C>T (p.Ser96Phe) c.344C>T (p.Ser115Phe) c.338C>T (p.Ser113Phe) | COSMIC |
11 | g.128839957G>C | CA383246219 | KCNJ1 | c.287C>G (p.Ser96Cys) c.344C>G (p.Ser115Cys) c.338C>G (p.Ser113Cys) | |
11 | g.128839957G>T | CA383246221 | KCNJ1 | c.287C>A (p.Ser96Tyr) c.344C>A (p.Ser115Tyr) c.338C>A (p.Ser113Tyr) | |
11 | g.128839958A>C | CA383246224 | KCNJ1 | c.286T>G (p.Ser96Ala) c.343T>G (p.Ser115Ala) c.337T>G (p.Ser113Ala) | |
11 | g.128839958A>G | CA383246226 | KCNJ1 | c.286T>C (p.Ser96Pro) c.343T>C (p.Ser115Pro) c.337T>C (p.Ser113Pro) | |
11 | g.128839958A>T | CA383246229 | KCNJ1 | c.286T>A (p.Ser96Thr) c.343T>A (p.Ser115Thr) c.337T>A (p.Ser113Thr) | |
11 | g.128839959A>C | CA477703091 | KCNJ1 | c.285T>G (p.Pro95=) c.342T>G (p.Pro114=) c.336T>G (p.Pro112=) | |
11 | g.128839959A>G | CA477703093 | KCNJ1 | c.285T>C (p.Pro95=) c.342T>C (p.Pro114=) c.336T>C (p.Pro112=) | |
11 | g.128839959A>T | CA477703094 | KCNJ1 | c.285T>A (p.Pro95=) c.342T>A (p.Pro114=) c.336T>A (p.Pro112=) | |
11 | g.128839960G>A | CA6357541 | KCNJ1 | c.284C>T (p.Pro95Leu) c.341C>T (p.Pro114Leu) c.335C>T (p.Pro112Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839960G>C | CA383246232 | KCNJ1 | c.284C>G (p.Pro95Arg) c.341C>G (p.Pro114Arg) c.335C>G (p.Pro112Arg) | |
11 | g.128839960G= | CA2008251422 | KCNJ1 | c.284C= (p.Pro95=) c.341C= (p.Pro114=) c.335C= (p.Pro112=) | |
11 | g.128839960G>T | CA383246235 | KCNJ1 | c.284C>A (p.Pro95His) c.341C>A (p.Pro114His) c.335C>A (p.Pro112His) | |
11 | g.128839961G>A | CA383246239 | KCNJ1 | c.283C>T (p.Pro95Ser) c.340C>T (p.Pro114Ser) c.334C>T (p.Pro112Ser) | |
11 | g.128839961G>C | CA383246241 | KCNJ1 | c.283C>G (p.Pro95Ala) c.340C>G (p.Pro114Ala) c.334C>G (p.Pro112Ala) | |
11 | g.128839961G>T | CA383246242 | KCNJ1 | c.283C>A (p.Pro95Thr) c.340C>A (p.Pro114Thr) c.334C>A (p.Pro112Thr) | |
11 | g.128839962A>C | CA383246244 | KCNJ1 | c.282T>G (p.His94Gln) c.339T>G (p.His113Gln) c.333T>G (p.His111Gln) | |
11 | g.128839962A>G | CA477703096 | KCNJ1 | c.282T>C (p.His94=) c.339T>C (p.His113=) c.333T>C (p.His111=) | |
11 | g.128839962A>T | CA383246247 | KCNJ1 | c.282T>A (p.His94Gln) c.339T>A (p.His113Gln) c.333T>A (p.His111Gln) | |
11 | g.128839963T>A | CA383246252 | KCNJ1 | c.281A>T (p.His94Leu) c.338A>T (p.His113Leu) c.332A>T (p.His111Leu) | |
11 | g.128839963T>C | CA383246254 | KCNJ1 | c.281A>G (p.His94Arg) c.338A>G (p.His113Arg) c.332A>G (p.His111Arg) | |
11 | g.128839963T>G | CA383246257 | KCNJ1 | c.281A>C (p.His94Pro) c.338A>C (p.His113Pro) c.332A>C (p.His111Pro) | |
11 | g.128839964G>A | CA383246259 | KCNJ1 | c.280C>T (p.His94Tyr) c.337C>T (p.His113Tyr) c.331C>T (p.His111Tyr) | |
11 | g.128839964G>C | CA383246264 | KCNJ1 | c.280C>G (p.His94Asp) c.337C>G (p.His113Asp) c.331C>G (p.His111Asp) | |
11 | g.128839964G= | CA2008251427 | KCNJ1 | c.280C= (p.His94=) c.337C= (p.His113=) c.331C= (p.His111=) | |
11 | g.128839964G>T | CA383246273 | KCNJ1 | c.280C>A (p.His94Asn) c.337C>A (p.His113Asn) c.331C>A (p.His111Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839965G>A | CA477703098 | KCNJ1 | c.279C>T (p.Phe93=) c.336C>T (p.Phe112=) c.330C>T (p.Phe110=) | COSMIC |
11 | g.128839965G>C | CA383246276 | KCNJ1 | c.279C>G (p.Phe93Leu) c.336C>G (p.Phe112Leu) c.330C>G (p.Phe110Leu) | |
11 | g.128839965G>T | CA383246282 | KCNJ1 | c.279C>A (p.Phe93Leu) c.336C>A (p.Phe112Leu) c.330C>A (p.Phe110Leu) | |
11 | g.128839966A>C | CA383246284 | KCNJ1 | c.278T>G (p.Phe93Cys) c.335T>G (p.Phe112Cys) c.329T>G (p.Phe110Cys) | |
11 | g.128839966A>G | CA383246294 | KCNJ1 | c.278T>C (p.Phe93Ser) c.335T>C (p.Phe112Ser) c.329T>C (p.Phe110Ser) | |
11 | g.128839966A>T | CA383246286 | KCNJ1 | c.278T>A (p.Phe93Tyr) c.335T>A (p.Phe112Tyr) c.329T>A (p.Phe110Tyr) | |
11 | g.128839967A>C | CA383246295 | KCNJ1 | c.277T>G (p.Phe93Val) c.334T>G (p.Phe112Val) c.328T>G (p.Phe110Val) | |
11 | g.128839967A>G | CA383246296 | KCNJ1 | c.277T>C (p.Phe93Leu) c.334T>C (p.Phe112Leu) c.328T>C (p.Phe110Leu) | |
11 | g.128839967A>T | CA383246298 | KCNJ1 | c.277T>A (p.Phe93Ile) c.334T>A (p.Phe112Ile) c.328T>A (p.Phe110Ile) | gnomAD v4 |
11 | g.128839968T>A | CA383246302 | KCNJ1 | c.276A>T (p.Glu92Asp) c.333A>T (p.Glu111Asp) c.327A>T (p.Glu109Asp) | |
11 | g.128839968T>C | CA477703103 | KCNJ1 | c.276A>G (p.Glu92=) c.333A>G (p.Glu111=) c.327A>G (p.Glu109=) | gnomAD v4 |
11 | g.128839968T>G | CA383246303 | KCNJ1 | c.276A>C (p.Glu92Asp) c.333A>C (p.Glu111Asp) c.327A>C (p.Glu109Asp) | |
11 | g.128839969T>A | CA383246313 | KCNJ1 | c.275A>T (p.Glu92Val) c.332A>T (p.Glu111Val) c.326A>T (p.Glu109Val) | |
11 | g.128839969T>C | CA383246319 | KCNJ1 | c.275A>G (p.Glu92Gly) c.332A>G (p.Glu111Gly) c.326A>G (p.Glu109Gly) | |
11 | g.128839969T>G | CA383246321 | KCNJ1 | c.275A>C (p.Glu92Ala) c.332A>C (p.Glu111Ala) c.326A>C (p.Glu109Ala) | |
11 | g.128839970C>A | CA383246322 | KCNJ1 | c.274G>T (p.Glu92Ter) c.331G>T (p.Glu111Ter) c.325G>T (p.Glu109Ter) | |
11 | g.128839970C>G | CA383246323 | KCNJ1 | c.274G>C (p.Glu92Gln) c.331G>C (p.Glu111Gln) c.325G>C (p.Glu109Gln) | gnomAD v4 |
11 | g.128839970C>T | CA383246326 | KCNJ1 | c.274G>A (p.Glu92Lys) c.331G>A (p.Glu111Lys) c.325G>A (p.Glu109Lys) | COSMIC |
11 | g.128839971C>A | CA477703107 | KCNJ1 | c.273G>T (p.Pro91=) c.330G>T (p.Pro110=) c.324G>T (p.Pro108=) | |
11 | g.128839971C= | CA2008251431 | KCNJ1 | c.273G= (p.Pro91=) c.330G= (p.Pro110=) c.324G= (p.Pro108=) | |
11 | g.128839971C>G | CA477703105 | KCNJ1 | c.273G>C (p.Pro91=) c.330G>C (p.Pro110=) c.324G>C (p.Pro108=) | |
11 | g.128839971C>T | CA6357542 | KCNJ1 | c.273G>A (p.Pro91=) c.330G>A (p.Pro110=) c.324G>A (p.Pro108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839972G>A | CA6357543 | KCNJ1 | c.272C>T (p.Pro91Leu) c.329C>T (p.Pro110Leu) c.323C>T (p.Pro108Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839972G>C | CA383246345 | KCNJ1 | c.272C>G (p.Pro91Arg) c.329C>G (p.Pro110Arg) c.323C>G (p.Pro108Arg) | |
11 | g.128839972G= | CA2008251442 | KCNJ1 | c.272C= (p.Pro91=) c.329C= (p.Pro110=) c.323C= (p.Pro108=) | |
11 | g.128839972G>T | CA6357544 | KCNJ1 | c.272C>A (p.Pro91Gln) c.329C>A (p.Pro110Gln) c.323C>A (p.Pro108Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839973G>A | CA383246350 | KCNJ1 | c.271C>T (p.Pro91Ser) c.328C>T (p.Pro110Ser) c.322C>T (p.Pro108Ser) | dbSNP gnomAD v4 |
11 | g.128839973G>C | CA383246353 | KCNJ1 | c.271C>G (p.Pro91Ala) c.328C>G (p.Pro110Ala) c.322C>G (p.Pro108Ala) | |
11 | g.128839973G= | CA2008251455 | KCNJ1 | c.271C= (p.Pro91=) c.328C= (p.Pro110=) c.322C= (p.Pro108=) | |
11 | g.128839973G>T | CA383246355 | KCNJ1 | c.271C>A (p.Pro91Thr) c.328C>A (p.Pro110Thr) c.322C>A (p.Pro108Thr) | |
11 | g.128839974G>A | CA6357545 | KCNJ1 | c.270C>T (p.Leu90=) c.327C>T (p.Leu109=) c.321C>T (p.Leu107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839974G>C | CA477703116 | KCNJ1 | c.270C>G (p.Leu90=) c.327C>G (p.Leu109=) c.321C>G (p.Leu107=) | |
11 | g.128839974G= | CA2008251458 | KCNJ1 | c.270C= (p.Leu90=) c.327C= (p.Leu109=) c.321C= (p.Leu107=) | |
11 | g.128839974G>T | CA477703115 | KCNJ1 | c.270C>A (p.Leu90=) c.327C>A (p.Leu109=) c.321C>A (p.Leu107=) | |
11 | g.128839975A>C | CA383246363 | KCNJ1 | c.269T>G (p.Leu90Arg) c.326T>G (p.Leu109Arg) c.320T>G (p.Leu107Arg) | |
11 | g.128839975A>G | CA383246366 | KCNJ1 | c.269T>C (p.Leu90Pro) c.326T>C (p.Leu109Pro) c.320T>C (p.Leu107Pro) | |
11 | g.128839975A>T | CA383246368 | KCNJ1 | c.269T>A (p.Leu90His) c.326T>A (p.Leu109His) c.320T>A (p.Leu107His) | |
11 | g.128839976G>A | CA383246371 | KCNJ1 | c.268C>T (p.Leu90Phe) c.325C>T (p.Leu109Phe) c.319C>T (p.Leu107Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839976G>C | CA383246374 | KCNJ1 | c.268C>G (p.Leu90Val) c.325C>G (p.Leu109Val) c.319C>G (p.Leu107Val) | |
11 | g.128839976G= | CA2008251461 | KCNJ1 | c.268C= (p.Leu90=) c.325C= (p.Leu109=) c.319C= (p.Leu107=) | |
11 | g.128839976G>T | CA6357546 | KCNJ1 | c.268C>A (p.Leu90Ile) c.325C>A (p.Leu109Ile) c.319C>A (p.Leu107Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839977G>A | CA230628913 | KCNJ1 | c.267C>T (p.Asp89=) c.324C>T (p.Asp108=) c.318C>T (p.Asp106=) | ClinVar dbSNP gnomAD v4 |
11 | g.128839977G>C | CA6357547 | KCNJ1 | c.267C>G (p.Asp89Glu) c.324C>G (p.Asp108Glu) c.318C>G (p.Asp106Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839977G= | CA2008251466 | KCNJ1 | c.267C= (p.Asp89=) c.324C= (p.Asp108=) c.318C= (p.Asp106=) | |
11 | g.128839977G>T | CA230628922 | KCNJ1 | c.267C>A (p.Asp89Glu) c.324C>A (p.Asp108Glu) c.318C>A (p.Asp106Glu) | dbSNP |
11 | g.128839978T>A | CA383246392 | KCNJ1 | c.266A>T (p.Asp89Val) c.323A>T (p.Asp108Val) c.317A>T (p.Asp106Val) | |
11 | g.128839978T>C | CA383246390 | KCNJ1 | c.266A>G (p.Asp89Gly) c.323A>G (p.Asp108Gly) c.317A>G (p.Asp106Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839978T>G | CA383246388 | KCNJ1 | c.266A>C (p.Asp89Ala) c.323A>C (p.Asp108Ala) c.317A>C (p.Asp106Ala) | |
11 | g.128839978T= | CA2008251471 | KCNJ1 | c.266A= (p.Asp89=) c.323A= (p.Asp108=) c.317A= (p.Asp106=) | |
11 | g.128839979C>A | CA383246396 | KCNJ1 | c.265G>T (p.Asp89Tyr) c.322G>T (p.Asp108Tyr) c.316G>T (p.Asp106Tyr) | |
11 | g.128839979C= | CA2008251478 | KCNJ1 | c.265G= (p.Asp89=) c.322G= (p.Asp108=) c.316G= (p.Asp106=) | |
11 | g.128839979C>G | CA120162 | KCNJ1 | c.265G>C (p.Asp89His) c.322G>C (p.Asp108His) c.316G>C (p.Asp106His) | ClinVar dbSNP |
11 | g.128839979C>T | CA383246398 | KCNJ1 | c.265G>A (p.Asp89Asn) c.322G>A (p.Asp108Asn) c.316G>A (p.Asp106Asn) | COSMIC |
11 | g.128839980T>A | CA383246404 | KCNJ1 | c.264A>T (p.Lys88Asn) c.321A>T (p.Lys107Asn) c.315A>T (p.Lys105Asn) | |
11 | g.128839980T>C | CA477703123 | KCNJ1 | c.264A>G (p.Lys88=) c.321A>G (p.Lys107=) c.315A>G (p.Lys105=) | |
11 | g.128839980T>G | CA383246406 | KCNJ1 | c.264A>C (p.Lys88Asn) c.321A>C (p.Lys107Asn) c.315A>C (p.Lys105Asn) | gnomAD v4 |
11 | g.128839981T>A | CA383246410 | KCNJ1 | c.263A>T (p.Lys88Ile) c.320A>T (p.Lys107Ile) c.314A>T (p.Lys105Ile) | |
11 | g.128839981T>C | CA383246411 | KCNJ1 | c.263A>G (p.Lys88Arg) c.320A>G (p.Lys107Arg) c.314A>G (p.Lys105Arg) | |
11 | g.128839981T>G | CA383246413 | KCNJ1 | c.263A>C (p.Lys88Thr) c.320A>C (p.Lys107Thr) c.314A>C (p.Lys105Thr) | |
11 | g.128839982T>A | CA16043357 | KCNJ1 | c.262A>T (p.Lys88Ter) c.319A>T (p.Lys107Ter) c.313A>T (p.Lys105Ter) | ClinVar dbSNP |
11 | g.128839982T>C | CA216044 | KCNJ1 | c.262A>G (p.Lys88Glu) c.319A>G (p.Lys107Glu) c.313A>G (p.Lys105Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839982T>G | CA383246421 | KCNJ1 | c.262A>C (p.Lys88Gln) c.319A>C (p.Lys107Gln) c.313A>C (p.Lys105Gln) | |
11 | g.128839982T= | CA2008251487 | KCNJ1 | c.262A= (p.Lys88=) c.319A= (p.Lys107=) c.313A= (p.Lys105=) | |
11 | g.128839983G>A | CA477703126 | KCNJ1 | c.261C>T (p.His87=) c.318C>T (p.His106=) c.312C>T (p.His104=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839983G>C | CA383246424 | KCNJ1 | c.261C>G (p.His87Gln) c.318C>G (p.His106Gln) c.312C>G (p.His104Gln) | |
11 | g.128839983G= | CA2008251494 | KCNJ1 | c.261C= (p.His87=) c.318C= (p.His106=) c.312C= (p.His104=) | |
11 | g.128839983G>T | CA383246426 | KCNJ1 | c.261C>A (p.His87Gln) c.318C>A (p.His106Gln) c.312C>A (p.His104Gln) | |
11 | g.128839984T>A | CA383246429 | KCNJ1 | c.260A>T (p.His87Leu) c.317A>T (p.His106Leu) c.311A>T (p.His104Leu) | |
11 | g.128839984T>C | CA383246433 | KCNJ1 | c.260A>G (p.His87Arg) c.317A>G (p.His106Arg) c.311A>G (p.His104Arg) | |
11 | g.128839984T>G | CA383246435 | KCNJ1 | c.260A>C (p.His87Pro) c.317A>C (p.His106Pro) c.311A>C (p.His104Pro) | |
11 | g.128839985G>A | CA383246438 | KCNJ1 | c.259C>T (p.His87Tyr) c.316C>T (p.His106Tyr) c.310C>T (p.His104Tyr) | dbSNP |
11 | g.128839985G>C | CA383246437 | KCNJ1 | c.259C>G (p.His87Asp) c.316C>G (p.His106Asp) c.310C>G (p.His104Asp) | |
11 | g.128839985G= | CA2008251498 | KCNJ1 | c.259C= (p.His87=) c.316C= (p.His106=) c.310C= (p.His104=) | |
11 | g.128839985G>T | CA383246436 | KCNJ1 | c.259C>A (p.His87Asn) c.316C>A (p.His106Asn) c.310C>A (p.His104Asn) | |
11 | g.128839986A>C | CA383246439 | KCNJ1 | c.258T>G (p.Ile86Met) c.315T>G (p.Ile105Met) c.309T>G (p.Ile103Met) | |
11 | g.128839986A>G | CA477703130 | KCNJ1 | c.258T>C (p.Ile86=) c.315T>C (p.Ile105=) c.309T>C (p.Ile103=) | |
11 | g.128839986A>T | CA477703131 | KCNJ1 | c.258T>A (p.Ile86=) c.315T>A (p.Ile105=) c.309T>A (p.Ile103=) | |
11 | g.128839987A>C | CA383246442 | KCNJ1 | c.257T>G (p.Ile86Ser) c.314T>G (p.Ile105Ser) c.308T>G (p.Ile103Ser) | |
11 | g.128839987A>G | CA383246444 | KCNJ1 | c.257T>C (p.Ile86Thr) c.314T>C (p.Ile105Thr) c.308T>C (p.Ile103Thr) | |
11 | g.128839987A>T | CA383246446 | KCNJ1 | c.257T>A (p.Ile86Asn) c.314T>A (p.Ile105Asn) c.308T>A (p.Ile103Asn) | |
11 | g.128839988T>A | CA383246450 | KCNJ1 | c.256A>T (p.Ile86Phe) c.313A>T (p.Ile105Phe) c.307A>T (p.Ile103Phe) | |
11 | g.128839988T>C | CA230628959 | KCNJ1 | c.256A>G (p.Ile86Val) c.313A>G (p.Ile105Val) c.307A>G (p.Ile103Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839988T>G | CA383246454 | KCNJ1 | c.256A>C (p.Ile86Leu) c.313A>C (p.Ile105Leu) c.307A>C (p.Ile103Leu) | |
11 | g.128839988T= | CA2008251501 | KCNJ1 | c.256A= (p.Ile86=) c.313A= (p.Ile105=) c.307A= (p.Ile103=) | |
11 | g.128839989G>A | CA477703136 | KCNJ1 | c.255C>T (p.Tyr85=) c.312C>T (p.Tyr104=) c.306C>T (p.Tyr102=) | |
11 | g.128839989G>C | CA383246457 | KCNJ1 | c.255C>G (p.Tyr85Ter) c.312C>G (p.Tyr104Ter) c.306C>G (p.Tyr102Ter) | |
11 | g.128839989G>T | CA383246459 | KCNJ1 | c.255C>A (p.Tyr85Ter) c.312C>A (p.Tyr104Ter) c.306C>A (p.Tyr102Ter) | |
11 | g.128839990T>A | CA383246463 | KCNJ1 | c.254A>T (p.Tyr85Phe) c.311A>T (p.Tyr104Phe) c.305A>T (p.Tyr102Phe) | |
11 | g.128839990T>C | CA383246465 | KCNJ1 | c.254A>G (p.Tyr85Cys) c.311A>G (p.Tyr104Cys) c.305A>G (p.Tyr102Cys) | |
11 | g.128839990T>G | CA383246467 | KCNJ1 | c.254A>C (p.Tyr85Ser) c.311A>C (p.Tyr104Ser) c.305A>C (p.Tyr102Ser) | |
11 | g.128839991A>C | CA383246475 | KCNJ1 | c.253T>G (p.Tyr85Asp) c.310T>G (p.Tyr104Asp) c.304T>G (p.Tyr102Asp) | gnomAD v4 |
11 | g.128839991A>G | CA383246472 | KCNJ1 | c.253T>C (p.Tyr85His) c.310T>C (p.Tyr104His) c.304T>C (p.Tyr102His) | |
11 | g.128839991A>T | CA383246470 | KCNJ1 | c.253T>A (p.Tyr85Asn) c.310T>A (p.Tyr104Asn) c.304T>A (p.Tyr102Asn) | |
11 | g.128839992C>A | CA477703140 | KCNJ1 | c.252G>T (p.Ala84=) c.309G>T (p.Ala103=) c.303G>T (p.Ala101=) | |
11 | g.128839992C= | CA2008251508 | KCNJ1 | c.252G= (p.Ala84=) c.309G= (p.Ala103=) c.303G= (p.Ala101=) | |
11 | g.128839992C>G | CA477703141 | KCNJ1 | c.252G>C (p.Ala84=) c.309G>C (p.Ala103=) c.303G>C (p.Ala101=) | dbSNP |
11 | g.128839992C>T | CA6357548 | KCNJ1 | c.252G>A (p.Ala84=) c.309G>A (p.Ala103=) c.303G>A (p.Ala101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839993G>A | CA6357549 | KCNJ1 | c.251C>T (p.Ala84Val) c.308C>T (p.Ala103Val) c.302C>T (p.Ala101Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839993G>C | CA383246479 | KCNJ1 | c.251C>G (p.Ala84Gly) c.308C>G (p.Ala103Gly) c.302C>G (p.Ala101Gly) | |
11 | g.128839993G= | CA2008251515 | KCNJ1 | c.251C= (p.Ala84=) c.308C= (p.Ala103=) c.302C= (p.Ala101=) | |
11 | g.128839993G>T | CA383246482 | KCNJ1 | c.251C>A (p.Ala84Glu) c.308C>A (p.Ala103Glu) c.302C>A (p.Ala101Glu) | dbSNP |
11 | g.128839994C>A | CA383246485 | KCNJ1 | c.250G>T (p.Ala84Ser) c.307G>T (p.Ala103Ser) c.301G>T (p.Ala101Ser) | |
11 | g.128839994C>G | CA383246488 | KCNJ1 | c.250G>C (p.Ala84Pro) c.307G>C (p.Ala103Pro) c.301G>C (p.Ala101Pro) | |
11 | g.128839994C>T | CA383246490 | KCNJ1 | c.250G>A (p.Ala84Thr) c.307G>A (p.Ala103Thr) c.301G>A (p.Ala101Thr) | |
11 | g.128839995T>A | CA477703145 | KCNJ1 | c.249A>T (p.Val83=) c.306A>T (p.Val102=) c.300A>T (p.Val100=) | |
11 | g.128839995T>C | CA477703146 | KCNJ1 | c.249A>G (p.Val83=) c.306A>G (p.Val102=) c.300A>G (p.Val100=) | |
11 | g.128839995T>G | CA477703147 | KCNJ1 | c.249A>C (p.Val83=) c.306A>C (p.Val102=) c.300A>C (p.Val100=) | |
11 | g.128839996A= | CA2008251522 | KCNJ1 | c.248T= (p.Val83=) c.305T= (p.Val102=) c.299T= (p.Val100=) | |
11 | g.128839996A>C | CA6357550 | KCNJ1 | c.248T>G (p.Val83Gly) c.305T>G (p.Val102Gly) c.299T>G (p.Val100Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839996A>G | CA383246495 | KCNJ1 | c.248T>C (p.Val83Ala) c.305T>C (p.Val102Ala) c.299T>C (p.Val100Ala) | gnomAD v4 |
11 | g.128839996A>T | CA383246497 | KCNJ1 | c.248T>A (p.Val83Glu) c.305T>A (p.Val102Glu) c.299T>A (p.Val100Glu) | |
11 | g.128839997C>A | CA383246499 | KCNJ1 | c.247G>T (p.Val83Leu) c.304G>T (p.Val102Leu) c.298G>T (p.Val100Leu) | |
11 | g.128839997C>G | CA383246501 | KCNJ1 | c.247G>C (p.Val83Leu) c.304G>C (p.Val102Leu) c.298G>C (p.Val100Leu) | |
11 | g.128839997C>T | CA383246503 | KCNJ1 | c.247G>A (p.Val83Ile) c.304G>A (p.Val102Ile) c.298G>A (p.Val100Ile) | |
11 | g.128839998T>A | CA477703153 | KCNJ1 | c.246A>T (p.Ala82=) c.303A>T (p.Ala101=) c.297A>T (p.Ala99=) | |
11 | g.128839998T>C | CA230628973 | KCNJ1 | c.246A>G (p.Ala82=) c.303A>G (p.Ala101=) c.297A>G (p.Ala99=) | dbSNP |
11 | g.128839998T>G | CA477703155 | KCNJ1 | c.246A>C (p.Ala82=) c.303A>C (p.Ala101=) c.297A>C (p.Ala99=) | |
11 | g.128839998T= | CA2008251525 | KCNJ1 | c.246A= (p.Ala82=) c.303A= (p.Ala101=) c.297A= (p.Ala99=) | |
11 | g.128839999G>A | CA383246507 | KCNJ1 | c.245C>T (p.Ala82Val) c.302C>T (p.Ala101Val) c.296C>T (p.Ala99Val) | gnomAD v4 |
11 | g.128839999G>C | CA383246511 | KCNJ1 | c.245C>G (p.Ala82Gly) c.302C>G (p.Ala101Gly) c.296C>G (p.Ala99Gly) | |
11 | g.128839999G>T | CA383246509 | KCNJ1 | c.245C>A (p.Ala82Glu) c.302C>A (p.Ala101Glu) c.296C>A (p.Ala99Glu) | |
11 | g.128840000C>A | CA383246514 | KCNJ1 | c.244G>T (p.Ala82Ser) c.301G>T (p.Ala101Ser) c.295G>T (p.Ala99Ser) | gnomAD v4 |
11 | g.128840000C>G | CA383246516 | KCNJ1 | c.244G>C (p.Ala82Pro) c.301G>C (p.Ala101Pro) c.295G>C (p.Ala99Pro) | |
11 | g.128840000C>T | CA383246518 | KCNJ1 | c.244G>A (p.Ala82Thr) c.301G>A (p.Ala101Thr) c.295G>A (p.Ala99Thr) | gnomAD v4 |
11 | g.128840001A= | CA2008251539 | KCNJ1 | c.243T= (p.Tyr81=) c.300T= (p.Tyr100=) c.294T= (p.Tyr98=) | |
11 | g.128840001A>C | CA383246520 | KCNJ1 | c.243T>G (p.Tyr81Ter) c.300T>G (p.Tyr100Ter) c.294T>G (p.Tyr98Ter) | gnomAD v4 |
11 | g.128840001A>G | CA477703158 | KCNJ1 | c.243T>C (p.Tyr81=) c.300T>C (p.Tyr100=) c.294T>C (p.Tyr98=) | dbSNP |
11 | g.128840001A>T | CA383246523 | KCNJ1 | c.243T>A (p.Tyr81Ter) c.300T>A (p.Tyr100Ter) c.294T>A (p.Tyr98Ter) | |
11 | g.128840002T>A | CA383246526 | KCNJ1 | c.242A>T (p.Tyr81Phe) c.299A>T (p.Tyr100Phe) c.293A>T (p.Tyr98Phe) | |
11 | g.128840002T>C | CA216041 | KCNJ1 | c.242A>G (p.Tyr81Cys) c.299A>G (p.Tyr100Cys) c.293A>G (p.Tyr98Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840002T>G | CA383246530 | KCNJ1 | c.242A>C (p.Tyr81Ser) c.299A>C (p.Tyr100Ser) c.293A>C (p.Tyr98Ser) | |
11 | g.128840002T= | CA2008251547 | KCNJ1 | c.242A= (p.Tyr81=) c.299A= (p.Tyr100=) c.293A= (p.Tyr98=) | |
11 | g.128840002_128840004delinsAAG | CA2825002003 | KCNJ1 | c.240_242delinsCTT (p.Trp80_Tyr81delinsCysPhe) c.297_299delinsCTT (p.Trp99_Tyr100delinsCysPhe) c.291_293delinsCTT (p.Trp97_Tyr98delinsCysPhe) | ClinVar |
11 | g.128840003A>C | CA383246535 | KCNJ1 | c.241T>G (p.Tyr81Asp) c.298T>G (p.Tyr100Asp) c.292T>G (p.Tyr98Asp) | |
11 | g.128840003A>G | CA383246538 | KCNJ1 | c.241T>C (p.Tyr81His) c.298T>C (p.Tyr100His) c.292T>C (p.Tyr98His) | ClinVar |
11 | g.128840003A>T | CA383246540 | KCNJ1 | c.241T>A (p.Tyr81Asn) c.298T>A (p.Tyr100Asn) c.292T>A (p.Tyr98Asn) | |
11 | g.128840004C>A | CA383246548 | KCNJ1 | c.240G>T (p.Trp80Cys) c.297G>T (p.Trp99Cys) c.291G>T (p.Trp97Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840004C= | CA2008251552 | KCNJ1 | c.240G= (p.Trp80=) c.297G= (p.Trp99=) c.291G= (p.Trp97=) | |
11 | g.128840004C>G | CA383246546 | KCNJ1 | c.240G>C (p.Trp80Cys) c.297G>C (p.Trp99Cys) c.291G>C (p.Trp97Cys) | |
11 | g.128840004C>T | CA383246545 | KCNJ1 | c.240G>A (p.Trp80Ter) c.297G>A (p.Trp99Ter) c.291G>A (p.Trp97Ter) | ClinVar gnomAD v4 |
11 | g.128840005C>A | CA383246552 | KCNJ1 | c.239G>T (p.Trp80Leu) c.296G>T (p.Trp99Leu) c.290G>T (p.Trp97Leu) | |
11 | g.128840005C= | CA2008251557 | KCNJ1 | c.239G= (p.Trp80=) c.296G= (p.Trp99=) c.290G= (p.Trp97=) | |
11 | g.128840005C>G | CA383246551 | KCNJ1 | c.239G>C (p.Trp80Ser) c.296G>C (p.Trp99Ser) c.290G>C (p.Trp97Ser) | |
11 | g.128840005C>T | CA230628976 | KCNJ1 | c.239G>A (p.Trp80Ter) c.296G>A (p.Trp99Ter) c.290G>A (p.Trp97Ter) | dbSNP gnomAD v4 |
11 | g.128840006A= | CA2008251560 | KCNJ1 | c.238T= (p.Trp80=) c.295T= (p.Trp99=) c.289T= (p.Trp97=) | |
11 | g.128840006A>C | CA383246558 | KCNJ1 | c.238T>G (p.Trp80Gly) c.295T>G (p.Trp99Gly) c.289T>G (p.Trp97Gly) | |
11 | g.128840006A>G | CA6357551 | KCNJ1 | c.238T>C (p.Trp80Arg) c.295T>C (p.Trp99Arg) c.289T>C (p.Trp97Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128840006A>T | CA383246562 | KCNJ1 | c.238T>A (p.Trp80Arg) c.295T>A (p.Trp99Arg) c.289T>A (p.Trp97Arg) |