Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387214G>ACA379770145KCNJ11c.617C>T (p.Thr206Ile)
c.878C>T (p.Thr293Ile)
n.1036C>T
11g.17387214G>CCA379770147KCNJ11c.617C>G (p.Thr206Ser)
c.878C>G (p.Thr293Ser)
n.1036C>G
11g.17387214G>TCA379770149KCNJ11c.617C>A (p.Thr206Asn)
c.878C>A (p.Thr293Asn)
n.1036C>A
11g.17387215T>ACA379770153KCNJ11c.616A>T (p.Thr206Ser)
c.877A>T (p.Thr293Ser)
n.1035A>T
11g.17387215T>CCA379770155KCNJ11c.616A>G (p.Thr206Ala)
c.877A>G (p.Thr293Ala)
n.1035A>G
11g.17387215T>GCA379770158KCNJ11c.616A>C (p.Thr206Pro)
c.877A>C (p.Thr293Pro)
n.1035A>C
11g.17387216T>ACA379770160KCNJ11c.615A>T (p.Glu205Asp)
c.876A>T (p.Glu292Asp)
n.1034A>T
11g.17387216T>CCA473515376KCNJ11c.615A>G (p.Glu205=)
c.876A>G (p.Glu292=)
n.1034A>G
11g.17387216T>GCA379770162KCNJ11c.615A>C (p.Glu205Asp)
c.876A>C (p.Glu292Asp)
n.1034A>C
11g.17387217T>ACA379770164KCNJ11c.614A>T (p.Glu205Val)
c.875A>T (p.Glu292Val)
n.1033A>T
11g.17387217T>CCA379770166KCNJ11c.614A>G (p.Glu205Gly)
c.875A>G (p.Glu292Gly)
n.1033A>G
11g.17387217T>GCA379770168KCNJ11c.614A>C (p.Glu205Ala)
c.875A>C (p.Glu292Ala)
n.1033A>C
11g.17387218C>ACA379770174KCNJ11c.613G>T (p.Glu205Ter)
c.874G>T (p.Glu292Ter)
n.1032G>T
11g.17387218C=CA1955119169KCNJ11c.613G= (p.Glu205=)
c.874G= (p.Glu292=)
n.1032G=
11g.17387218C>GCA379770171KCNJ11c.613G>C (p.Glu205Gln)
c.874G>C (p.Glu292Gln)
n.1032G>C
11g.17387218C>TCA379770173KCNJ11c.613G>A (p.Glu205Lys)
c.874G>A (p.Glu292Lys)
n.1032G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.17387219C>ACA473515377KCNJ11c.612G>T (p.Val204=)
c.873G>T (p.Val291=)
n.1031G>T
11g.17387219C>GCA473515378KCNJ11c.612G>C (p.Val204=)
c.873G>C (p.Val291=)
n.1031G>C
11g.17387219C>TCA473515379KCNJ11c.612G>A (p.Val204=)
c.873G>A (p.Val291=)
n.1031G>A
 ClinVar dbSNP gnomAD v4
11g.17387220A>CCA379770177KCNJ11c.611T>G (p.Val204Gly)
c.872T>G (p.Val291Gly)
n.1030T>G
11g.17387220A>GCA379770182KCNJ11c.611T>C (p.Val204Ala)
c.872T>C (p.Val291Ala)
n.1030T>C
11g.17387220A>TCA379770180KCNJ11c.611T>A (p.Val204Glu)
c.872T>A (p.Val291Glu)
n.1030T>A
11g.17387221C>ACA379770184KCNJ11c.610G>T (p.Val204Leu)
c.871G>T (p.Val291Leu)
n.1029G>T
11g.17387221C>GCA379770185KCNJ11c.610G>C (p.Val204Leu)
c.871G>C (p.Val291Leu)
n.1029G>C
11g.17387221C>TCA379770186KCNJ11c.610G>A (p.Val204Met)
c.871G>A (p.Val291Met)
n.1029G>A
 gnomAD v4
11g.17387222C>ACA473515381KCNJ11c.609G>T (p.Val203=)
c.870G>T (p.Val290=)
n.1028G>T
11g.17387222C=CA1955119170KCNJ11c.609G= (p.Val203=)
c.870G= (p.Val290=)
n.1028G=
11g.17387222C>GCA218399486KCNJ11c.609G>C (p.Val203=)
c.870G>C (p.Val290=)
n.1028G>C
 dbSNP gnomAD v3 gnomAD v4
11g.17387222C>TCA473515380KCNJ11c.609G>A (p.Val203=)
c.870G>A (p.Val290=)
n.1028G>A
 dbSNP gnomAD v2 gnomAD v4
11g.17387223A>CCA379770188KCNJ11c.608T>G (p.Val203Gly)
c.869T>G (p.Val290Gly)
n.1027T>G
11g.17387223A>GCA379770189KCNJ11c.608T>C (p.Val203Ala)
c.869T>C (p.Val290Ala)
n.1027T>C
11g.17387223A>TCA379770190KCNJ11c.608T>A (p.Val203Glu)
c.869T>A (p.Val290Glu)
n.1027T>A
11g.17387224C>ACA5902230KCNJ11c.607G>T (p.Val203Leu)
c.868G>T (p.Val290Leu)
n.1026G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387224C=CA1955119171KCNJ11c.607G= (p.Val203=)
c.868G= (p.Val290=)
n.1026G=
11g.17387224C>GCA379770195KCNJ11c.607G>C (p.Val203Leu)
c.868G>C (p.Val290Leu)
n.1026G>C
11g.17387224C>TCA5902229KCNJ11c.607G>A (p.Val203Met)
c.868G>A (p.Val290Met)
n.1026G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387225G>ACA5902231KCNJ11c.606C>T (p.Gly202=)
c.867C>T (p.Gly289=)
n.1025C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387225G>CCA473515382KCNJ11c.606C>G (p.Gly202=)
c.867C>G (p.Gly289=)
n.1025C>G
 dbSNP
11g.17387225G=CA1955119172KCNJ11c.606C= (p.Gly202=)
c.867C= (p.Gly289=)
n.1025C=
11g.17387225G>TCA473515383KCNJ11c.606C>A (p.Gly202=)
c.867C>A (p.Gly289=)
n.1025C>A
11g.17387226C>ACA277326KCNJ11c.605G>T (p.Gly202Val)
c.866G>T (p.Gly289Val)
n.1024G>T
 ClinVar dbSNP COSMIC
11g.17387226C=CA1955119173KCNJ11c.605G= (p.Gly202=)
c.866G= (p.Gly289=)
n.1024G=
11g.17387226C>GCA277103KCNJ11c.605G>C (p.Gly202Ala)
c.866G>C (p.Gly289Ala)
n.1024G>C
 ClinVar dbSNP
11g.17387226C>TCA379770203KCNJ11c.605G>A (p.Gly202Asp)
c.866G>A (p.Gly289Asp)
n.1024G>A
 COSMIC
11g.17387227C>ACA379770206KCNJ11c.604G>T (p.Gly202Cys)
c.865G>T (p.Gly289Cys)
n.1023G>T
11g.17387227C>GCA379770208KCNJ11c.604G>C (p.Gly202Arg)
c.865G>C (p.Gly289Arg)
n.1023G>C
11g.17387227C>TCA379770210KCNJ11c.604G>A (p.Gly202Ser)
c.865G>A (p.Gly289Ser)
n.1023G>A
11g.17387228T>ACA379770212KCNJ11c.603A>T (p.Glu201Asp)
c.864A>T (p.Glu288Asp)
n.1022A>T
11g.17387228T>CCA473515386KCNJ11c.603A>G (p.Glu201=)
c.864A>G (p.Glu288=)
n.1022A>G
 ClinVar dbSNP
11g.17387228T>GCA379770214KCNJ11c.603A>C (p.Glu201Asp)
c.864A>C (p.Glu288Asp)
n.1022A>C
11g.17387229T>ACA379770217KCNJ11c.602A>T (p.Glu201Val)
c.863A>T (p.Glu288Val)
n.1021A>T
11g.17387229T>CCA379770219KCNJ11c.602A>G (p.Glu201Gly)
c.863A>G (p.Glu288Gly)
n.1021A>G
11g.17387229T>GCA379770221KCNJ11c.602A>C (p.Glu201Ala)
c.863A>C (p.Glu288Ala)
n.1021A>C
11g.17387230C>ACA379770224KCNJ11c.601G>T (p.Glu201Ter)
c.862G>T (p.Glu288Ter)
n.1020G>T
11g.17387230C>GCA379770226KCNJ11c.601G>C (p.Glu201Gln)
c.862G>C (p.Glu288Gln)
n.1020G>C
11g.17387230C>TCA379770228KCNJ11c.601G>A (p.Glu201Lys)
c.862G>A (p.Glu288Lys)
n.1020G>A
11g.17387231C>ACA473515388KCNJ11c.600G>T (p.Leu200=)
c.861G>T (p.Leu287=)
n.1019G>T
11g.17387231C>GCA473515389KCNJ11c.600G>C (p.Leu200=)
c.861G>C (p.Leu287=)
n.1019G>C
11g.17387231C>TCA473515391KCNJ11c.600G>A (p.Leu200=)
c.861G>A (p.Leu287=)
n.1019G>A
11g.17387232A>CCA379770233KCNJ11c.599T>G (p.Leu200Arg)
c.860T>G (p.Leu287Arg)
n.1018T>G
11g.17387232A>GCA379770232KCNJ11c.599T>C (p.Leu200Pro)
c.860T>C (p.Leu287Pro)
n.1018T>C
 gnomAD v4
11g.17387232A>TCA379770231KCNJ11c.599T>A (p.Leu200Gln)
c.860T>A (p.Leu287Gln)
n.1018T>A
11g.17387233G>ACA473515393KCNJ11c.598C>T (p.Leu200=)
c.859C>T (p.Leu287=)
n.1017C>T
11g.17387233G>CCA379770240KCNJ11c.598C>G (p.Leu200Val)
c.859C>G (p.Leu287Val)
n.1017C>G
11g.17387233G>TCA379770238KCNJ11c.598C>A (p.Leu200Met)
c.859C>A (p.Leu287Met)
n.1017C>A
11g.17387234G>ACA473515394KCNJ11c.597C>T (p.Ile199=)
c.858C>T (p.Ile286=)
n.1016C>T
11g.17387234G>CCA379770242KCNJ11c.597C>G (p.Ile199Met)
c.858C>G (p.Ile286Met)
n.1016C>G
11g.17387234G>TCA473515395KCNJ11c.597C>A (p.Ile199=)
c.858C>A (p.Ile286=)
n.1016C>A
 COSMIC
11g.17387235A>CCA379770247KCNJ11c.596T>G (p.Ile199Ser)
c.857T>G (p.Ile286Ser)
n.1015T>G
11g.17387235A>GCA379770249KCNJ11c.596T>C (p.Ile199Thr)
c.857T>C (p.Ile286Thr)
n.1015T>C
11g.17387235A>TCA379770250KCNJ11c.596T>A (p.Ile199Asn)
c.857T>A (p.Ile286Asn)
n.1015T>A
11g.17387236T>ACA379770258KCNJ11c.595A>T (p.Ile199Phe)
c.856A>T (p.Ile286Phe)
n.1014A>T
11g.17387236T>CCA379770256KCNJ11c.595A>G (p.Ile199Val)
c.856A>G (p.Ile286Val)
n.1014A>G
 dbSNP gnomAD v3 gnomAD v4
11g.17387236T>GCA379770254KCNJ11c.595A>C (p.Ile199Leu)
c.856A>C (p.Ile286Leu)
n.1014A>C
11g.17387236T=CA1955119174KCNJ11c.595A= (p.Ile199=)
c.856A= (p.Ile286=)
n.1014A=
11g.17387237G>ACA473515396KCNJ11c.594C>T (p.Val198=)
c.855C>T (p.Val285=)
n.1013C>T
 dbSNP gnomAD v3 gnomAD v4
11g.17387237G>CCA473515397KCNJ11c.594C>G (p.Val198=)
c.855C>G (p.Val285=)
n.1013C>G
11g.17387237G=CA1955119175KCNJ11c.594C= (p.Val198=)
c.855C= (p.Val285=)
n.1013C=
11g.17387237G>TCA473515398KCNJ11c.594C>A (p.Val198=)
c.855C>A (p.Val285=)
n.1013C>A
11g.17387238A>CCA379770260KCNJ11c.593T>G (p.Val198Gly)
c.854T>G (p.Val285Gly)
n.1012T>G
11g.17387238A>GCA379770261KCNJ11c.593T>C (p.Val198Ala)
c.854T>C (p.Val285Ala)
n.1012T>C
11g.17387238A>TCA379770264KCNJ11c.593T>A (p.Val198Asp)
c.854T>A (p.Val285Asp)
n.1012T>A
11g.17387239C>ACA379770267KCNJ11c.592G>T (p.Val198Phe)
c.853G>T (p.Val285Phe)
n.1011G>T
11g.17387239C=CA1955119176KCNJ11c.592G= (p.Val198=)
c.853G= (p.Val285=)
n.1011G=
11g.17387239C>GCA379770269KCNJ11c.592G>C (p.Val198Leu)
c.853G>C (p.Val285Leu)
n.1011G>C
11g.17387239C>TCA5902232KCNJ11c.592G>A (p.Val198Ile)
c.853G>A (p.Val285Ile)
n.1011G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387240G>ACA5902233KCNJ11c.591C>T (p.Ile197=)
c.852C>T (p.Ile284=)
n.1010C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387240G>CCA379770287KCNJ11c.591C>G (p.Ile197Met)
c.852C>G (p.Ile284Met)
n.1010C>G
11g.17387240G=CA1955119177KCNJ11c.591C= (p.Ile197=)
c.852C= (p.Ile284=)
n.1010C=
11g.17387240G>TCA172348KCNJ11c.591C>A (p.Ile197=)
c.852C>A (p.Ile284=)
n.1010C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387243_17387245dupCA674172893KCNJ11c.589_591dup (p.Ile197_Val198insIle)
c.850_852dup (p.Ile284_Val285insIle)
n.1008_1010dup
 dbSNP gnomAD v4
11g.17387243_17387245delCA2580615636KCNJ11c.589_591del (p.Ile197del)
c.850_852del (p.Ile284del)
n.1008_1010del
 ClinVar gnomAD v4
11g.17387241A>CCA379770291KCNJ11c.590T>G (p.Ile197Ser)
c.851T>G (p.Ile284Ser)
n.1009T>G
11g.17387241A>GCA379770293KCNJ11c.590T>C (p.Ile197Thr)
c.851T>C (p.Ile284Thr)
n.1009T>C
 gnomAD v4
11g.17387241A>TCA379770294KCNJ11c.590T>A (p.Ile197Asn)
c.851T>A (p.Ile284Asn)
n.1009T>A
11g.17387242T>ACA379770295KCNJ11c.589A>T (p.Ile197Phe)
c.850A>T (p.Ile284Phe)
n.1008A>T
11g.17387242T>CCA379770297KCNJ11c.589A>G (p.Ile197Val)
c.850A>G (p.Ile284Val)
n.1008A>G
11g.17387242T>GCA379770299KCNJ11c.589A>C (p.Ile197Leu)
c.850A>C (p.Ile284Leu)
n.1008A>C
11g.17387243G>ACA5902234KCNJ11c.588C>T (p.Ile196=)
c.849C>T (p.Ile283=)
n.1007C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387243G>CCA379770302KCNJ11c.588C>G (p.Ile196Met)
c.849C>G (p.Ile283Met)
n.1007C>G
11g.17387243G=CA1955119178KCNJ11c.588C= (p.Ile196=)
c.849C= (p.Ile283=)
n.1007C=
11g.17387243G>TCA473515354KCNJ11c.588C>A (p.Ile196=)
c.849C>A (p.Ile283=)
n.1007C>A
 gnomAD v4 COSMIC
11g.17387244A=CA1955119179KCNJ11c.587T= (p.Ile196=)
c.848T= (p.Ile283=)
n.1006T=
11g.17387244A>CCA379770303KCNJ11c.587T>G (p.Ile196Ser)
c.848T>G (p.Ile283Ser)
n.1006T>G
 gnomAD v4
11g.17387244A>GCA379770305KCNJ11c.587T>C (p.Ile196Thr)
c.848T>C (p.Ile283Thr)
n.1006T>C
 gnomAD v4
11g.17387244A>TCA379770307KCNJ11c.587T>A (p.Ile196Asn)
c.848T>A (p.Ile283Asn)
n.1006T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.17387245T>ACA379770309KCNJ11c.586A>T (p.Ile196Phe)
c.847A>T (p.Ile283Phe)
n.1005A>T
11g.17387245T>CCA379770311KCNJ11c.586A>G (p.Ile196Val)
c.847A>G (p.Ile283Val)
n.1005A>G
11g.17387245T>GCA379770308KCNJ11c.586A>C (p.Ile196Leu)
c.847A>C (p.Ile283Leu)
n.1005A>C
11g.17387246C>ACA379770313KCNJ11c.585G>T (p.Glu195Asp)
c.846G>T (p.Glu282Asp)
n.1004G>T
11g.17387246C>GCA379770314KCNJ11c.585G>C (p.Glu195Asp)
c.846G>C (p.Glu282Asp)
n.1004G>C
11g.17387246C>TCA473515358KCNJ11c.585G>A (p.Glu195=)
c.846G>A (p.Glu282=)
n.1004G>A
 gnomAD v4
11g.17387247T>ACA379770316KCNJ11c.584A>T (p.Glu195Val)
c.845A>T (p.Glu282Val)
n.1003A>T
11g.17387247T>CCA379770321KCNJ11c.584A>G (p.Glu195Gly)
c.845A>G (p.Glu282Gly)
n.1003A>G
11g.17387247T>GCA379770318KCNJ11c.584A>C (p.Glu195Ala)
c.845A>C (p.Glu282Ala)
n.1003A>C
11g.17387248C>ACA379770326KCNJ11c.583G>T (p.Glu195Ter)
c.844G>T (p.Glu282Ter)
n.1002G>T
 ClinVar
11g.17387248C=CA1955119180KCNJ11c.583G= (p.Glu195=)
c.844G= (p.Glu282=)
n.1002G=
11g.17387248C>GCA379770329KCNJ11c.583G>C (p.Glu195Gln)
c.844G>C (p.Glu282Gln)
n.1002G>C
 ClinVar
11g.17387248C>TCA254526KCNJ11c.583G>A (p.Glu195Lys)
c.844G>A (p.Glu282Lys)
n.1002G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387248_17387251delCA912971886KCNJ11c.580_583del (p.Leu194ArgfsTer?)
c.841_844del (p.Leu281ArgfsTer?)
n.999_1002del
11g.17387248_17387251delinsCGAGCA1955119181KCNJ11c.580_583delinsCTCG (p.Leu194=)
c.841_844delinsCTCG (p.Leu281=)
n.999_1002delinsCTCG
11g.17387249G>ACA208185KCNJ11c.582C>T (p.Leu194=)
c.843C>T (p.Leu281=)
n.1001C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387249G>CCA473515361KCNJ11c.582C>G (p.Leu194=)
c.843C>G (p.Leu281=)
n.1001C>G
11g.17387249G=CA1955119182KCNJ11c.582C= (p.Leu194=)
c.843C= (p.Leu281=)
n.1001C=
11g.17387249G>TCA473515362KCNJ11c.582C>A (p.Leu194=)
c.843C>A (p.Leu281=)
n.1001C>A
11g.17387250_17387252delCA658822452KCNJ11c.580_582del (p.Leu194del)
c.841_843del (p.Leu281del)
n.999_1001del
 ClinVar dbSNP
11g.17387250A>CCA379770334KCNJ11c.581T>G (p.Leu194Arg)
c.842T>G (p.Leu281Arg)
n.1000T>G
11g.17387250A>GCA379770335KCNJ11c.581T>C (p.Leu194Pro)
c.842T>C (p.Leu281Pro)
n.1000T>C
11g.17387250A>TCA379770337KCNJ11c.581T>A (p.Leu194His)
c.842T>A (p.Leu281His)
n.1000T>A
11g.17387255_17387272delCA2695201085KCNJ11c.564_581del (p.His189_Leu194del)
c.825_842del (p.His276_Leu281del)
n.983_1000del
 ClinVar
11g.17387251G>ACA379770339KCNJ11c.580C>T (p.Leu194Phe)
c.841C>T (p.Leu281Phe)
n.999C>T
11g.17387251G>CCA379770341KCNJ11c.580C>G (p.Leu194Val)
c.841C>G (p.Leu281Val)
n.999C>G
 gnomAD v4
11g.17387251G>TCA379770343KCNJ11c.580C>A (p.Leu194Ile)
c.841C>A (p.Leu281Ile)
n.999C>A
11g.17387252G>ACA473515367KCNJ11c.579C>T (p.Asp193=)
c.840C>T (p.Asp280=)
n.998C>T
11g.17387252G>CCA379770344KCNJ11c.579C>G (p.Asp193Glu)
c.840C>G (p.Asp280Glu)
n.998C>G
 dbSNP gnomAD v3 gnomAD v4
11g.17387252G=CA1955119183KCNJ11c.579C= (p.Asp193=)
c.840C= (p.Asp280=)
n.998C=
11g.17387252G>TCA379770346KCNJ11c.579C>A (p.Asp193Glu)
c.840C>A (p.Asp280Glu)
n.998C>A
11g.17387253T>ACA379770349KCNJ11c.578A>T (p.Asp193Val)
c.839A>T (p.Asp280Val)
n.997A>T
11g.17387253T>CCA379770351KCNJ11c.578A>G (p.Asp193Gly)
c.839A>G (p.Asp280Gly)
n.997A>G
11g.17387253T>GCA379770353KCNJ11c.578A>C (p.Asp193Ala)
c.839A>C (p.Asp280Ala)
n.997A>C
11g.17387254C>ACA379770361KCNJ11c.577G>T (p.Asp193Tyr)
c.838G>T (p.Asp280Tyr)
n.996G>T
 COSMIC
11g.17387254C>GCA379770359KCNJ11c.577G>C (p.Asp193His)
c.838G>C (p.Asp280His)
n.996G>C
11g.17387254C>TCA379770357KCNJ11c.577G>A (p.Asp193Asn)
c.838G>A (p.Asp280Asn)
n.996G>A
11g.17387255C>ACA379770365KCNJ11c.576G>T (p.Gln192His)
c.837G>T (p.Gln279His)
n.995G>T
11g.17387255C>GCA379770368KCNJ11c.576G>C (p.Gln192His)
c.837G>C (p.Gln279His)
n.995G>C
11g.17387255C>TCA473515371KCNJ11c.576G>A (p.Gln192=)
c.837G>A (p.Gln279=)
n.995G>A
11g.17387256T>ACA379770372KCNJ11c.575A>T (p.Gln192Leu)
c.836A>T (p.Gln279Leu)
n.994A>T
11g.17387256T>CCA379770375KCNJ11c.575A>G (p.Gln192Arg)
c.836A>G (p.Gln279Arg)
n.994A>G
11g.17387256T>GCA379770378KCNJ11c.575A>C (p.Gln192Pro)
c.836A>C (p.Gln279Pro)
n.994A>C
11g.17387257G>ACA379770382KCNJ11c.574C>T (p.Gln192Ter)
c.835C>T (p.Gln279Ter)
n.993C>T
 gnomAD v4
11g.17387257G>CCA379770386KCNJ11c.574C>G (p.Gln192Glu)
c.835C>G (p.Gln279Glu)
n.993C>G
11g.17387257G>TCA379770387KCNJ11c.574C>A (p.Gln192Lys)
c.835C>A (p.Gln279Lys)
n.993C>A
11g.17387258G>ACA473515375KCNJ11c.573C>T (p.His191=)
c.834C>T (p.His278=)
n.992C>T
11g.17387258G>CCA379770392KCNJ11c.573C>G (p.His191Gln)
c.834C>G (p.His278Gln)
n.992C>G
11g.17387258G>TCA379770395KCNJ11c.573C>A (p.His191Gln)
c.834C>A (p.His278Gln)
n.992C>A
11g.17387259T>ACA379770398KCNJ11c.572A>T (p.His191Leu)
c.833A>T (p.His278Leu)
n.991A>T
11g.17387259T>CCA379770401KCNJ11c.572A>G (p.His191Arg)
c.833A>G (p.His278Arg)
n.991A>G
11g.17387259T>GCA379770404KCNJ11c.572A>C (p.His191Pro)
c.833A>C (p.His278Pro)
n.991A>C
11g.17387260G>ACA379770413KCNJ11c.571C>T (p.His191Tyr)
c.832C>T (p.His278Tyr)
n.990C>T
11g.17387260G>CCA379770416KCNJ11c.571C>G (p.His191Asp)
c.832C>G (p.His278Asp)
n.990C>G
11g.17387260G>TCA379770407KCNJ11c.571C>A (p.His191Asn)
c.832C>A (p.His278Asn)
n.990C>A
11g.17387261G>ACA5902235KCNJ11c.570C>T (p.His190=)
c.831C>T (p.His277=)
n.989C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387261G>CCA379770422KCNJ11c.570C>G (p.His190Gln)
c.831C>G (p.His277Gln)
n.989C>G
11g.17387261G=CA1955119184KCNJ11c.570C= (p.His190=)
c.831C= (p.His277=)
n.989C=
11g.17387261G>TCA379770425KCNJ11c.570C>A (p.His190Gln)
c.831C>A (p.His277Gln)
n.989C>A
11g.17387262T>ACA379770429KCNJ11c.569A>T (p.His190Leu)
c.830A>T (p.His277Leu)
n.988A>T
11g.17387262T>CCA379770430KCNJ11c.569A>G (p.His190Arg)
c.830A>G (p.His277Arg)
n.988A>G
11g.17387262T>GCA379770431KCNJ11c.569A>C (p.His190Pro)
c.830A>C (p.His277Pro)
n.988A>C
11g.17387263G>ACA379770432KCNJ11c.568C>T (p.His190Tyr)
c.829C>T (p.His277Tyr)
n.987C>T
11g.17387263G>CCA379770434KCNJ11c.568C>G (p.His190Asp)
c.829C>G (p.His277Asp)
n.987C>G
11g.17387263G>TCA379770437KCNJ11c.568C>A (p.His190Asn)
c.829C>A (p.His277Asn)
n.987C>A
11g.17387268_17387281delCA2612638664KCNJ11c.555_568del (p.Ser186ProfsTer?)
c.816_829del (p.Ser273ProfsTer?)
n.974_987del
 ClinVar gnomAD v4
11g.17387264G>ACA5902236KCNJ11c.567C>T (p.His189=)
c.828C>T (p.His276=)
n.986C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387264G>CCA379770442KCNJ11c.567C>G (p.His189Gln)
c.828C>G (p.His276Gln)
n.986C>G
11g.17387264G=CA1955119185KCNJ11c.567C= (p.His189=)
c.828C= (p.His276=)
n.986C=
11g.17387264G>TCA379770445KCNJ11c.567C>A (p.His189Gln)
c.828C>A (p.His276Gln)
n.986C>A
 ClinVar dbSNP gnomAD v4
11g.17387265T>ACA379770446KCNJ11c.566A>T (p.His189Leu)
c.827A>T (p.His276Leu)
n.985A>T
11g.17387265T>CCA379770447KCNJ11c.566A>G (p.His189Arg)
c.827A>G (p.His276Arg)
n.985A>G
11g.17387265T>GCA218399541KCNJ11c.566A>C (p.His189Pro)
c.827A>C (p.His276Pro)
n.985A>C
 dbSNP
11g.17387265T=CA1955119186KCNJ11c.566A= (p.His189=)
c.827A= (p.His276=)
n.985A=
11g.17387266G>ACA379770450KCNJ11c.565C>T (p.His189Tyr)
c.826C>T (p.His276Tyr)
n.984C>T
 gnomAD v4
11g.17387266G>CCA379770451KCNJ11c.565C>G (p.His189Asp)
c.826C>G (p.His276Asp)
n.984C>G
11g.17387266G>TCA379770452KCNJ11c.565C>A (p.His189Asn)
c.826C>A (p.His276Asn)
n.984C>A
11g.17387267C>ACA473515384KCNJ11c.564G>T (p.Leu188=)
c.825G>T (p.Leu275=)
n.983G>T
11g.17387267C>GCA473515385KCNJ11c.564G>C (p.Leu188=)
c.825G>C (p.Leu275=)
n.983G>C
11g.17387267C>TCA473515387KCNJ11c.564G>A (p.Leu188=)
c.825G>A (p.Leu275=)
n.983G>A
 dbSNP gnomAD v4
11g.17387268A>CCA379770455KCNJ11c.563T>G (p.Leu188Arg)
c.824T>G (p.Leu275Arg)
n.982T>G
11g.17387268A>GCA379770457KCNJ11c.563T>C (p.Leu188Pro)
c.824T>C (p.Leu275Pro)
n.982T>C
11g.17387268A>TCA379770460KCNJ11c.563T>A (p.Leu188Gln)
c.824T>A (p.Leu275Gln)
n.982T>A
11g.17387269G>ACA473515390KCNJ11c.562C>T (p.Leu188=)
c.823C>T (p.Leu275=)
n.981C>T
11g.17387269G>CCA379770461KCNJ11c.562C>G (p.Leu188Val)
c.823C>G (p.Leu275Val)
n.981C>G
11g.17387269G>TCA379770462KCNJ11c.562C>A (p.Leu188Met)
c.823C>A (p.Leu275Met)
n.981C>A
11g.17387270G>ACA473515392KCNJ11c.561C>T (p.Asp187=)
c.822C>T (p.Asp274=)
n.980C>T
11g.17387270G>CCA379770463KCNJ11c.561C>G (p.Asp187Glu)
c.822C>G (p.Asp274Glu)
n.980C>G
11g.17387270G>TCA379770466KCNJ11c.561C>A (p.Asp187Glu)
c.822C>A (p.Asp274Glu)
n.980C>A
11g.17387271T>ACA379770473KCNJ11c.560A>T (p.Asp187Val)
c.821A>T (p.Asp274Val)
n.979A>T
11g.17387271T>CCA238619KCNJ11c.560A>G (p.Asp187Gly)
c.821A>G (p.Asp274Gly)
n.979A>G
 ClinVar dbSNP gnomAD v4
11g.17387271T>GCA379770470KCNJ11c.560A>C (p.Asp187Ala)
c.821A>C (p.Asp274Ala)
n.979A>C
11g.17387271T=CA1955119187KCNJ11c.560A= (p.Asp187=)
c.821A= (p.Asp274=)
n.979A=
11g.17387272C>ACA5902238KCNJ11c.559G>T (p.Asp187Tyr)
c.820G>T (p.Asp274Tyr)
n.978G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387272C=CA1955119188KCNJ11c.559G= (p.Asp187=)
c.820G= (p.Asp274=)
n.978G=
11g.17387272C>GCA379770478KCNJ11c.559G>C (p.Asp187His)
c.820G>C (p.Asp274His)
n.978G>C
 dbSNP gnomAD v3 gnomAD v4
11g.17387272C>TCA5902237KCNJ11c.559G>A (p.Asp187Asn)
c.820G>A (p.Asp274Asn)
n.978G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.17387273G>ACA5902239KCNJ11c.558C>T (p.Ser186=)
c.819C>T (p.Ser273=)
n.977C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387273G>CCA379770494KCNJ11c.558C>G (p.Ser186Arg)
c.819C>G (p.Ser273Arg)
n.977C>G
11g.17387273G=CA1955119189KCNJ11c.558C= (p.Ser186=)
c.819C= (p.Ser273=)
n.977C=
11g.17387273G>TCA379770495KCNJ11c.558C>A (p.Ser186Arg)
c.819C>A (p.Ser273Arg)
n.977C>A
 gnomAD v4
11g.17387274C>ACA379770499KCNJ11c.557G>T (p.Ser186Ile)
c.818G>T (p.Ser273Ile)
n.976G>T
11g.17387274C>GCA379770497KCNJ11c.557G>C (p.Ser186Thr)
c.818G>C (p.Ser273Thr)
n.976G>C
11g.17387274C>TCA379770496KCNJ11c.557G>A (p.Ser186Asn)
c.818G>A (p.Ser273Asn)
n.976G>A
11g.17387275T>ACA379770505KCNJ11c.556A>T (p.Ser186Cys)
c.817A>T (p.Ser273Cys)
n.975A>T
11g.17387275T>CCA5902240KCNJ11c.556A>G (p.Ser186Gly)
c.817A>G (p.Ser273Gly)
n.975A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387275T>GCA379770508KCNJ11c.556A>C (p.Ser186Arg)
c.817A>C (p.Ser273Arg)
n.975A>C
11g.17387275T=CA1955119190KCNJ11c.556A= (p.Ser186=)
c.817A= (p.Ser273=)
n.975A=
11g.17387276G>ACA473515399KCNJ11c.555C>T (p.Pro185=)
c.816C>T (p.Pro272=)
n.974C>T
 gnomAD v4
11g.17387276G>CCA473515400KCNJ11c.555C>G (p.Pro185=)
c.816C>G (p.Pro272=)
n.974C>G
11g.17387276G>TCA473515401KCNJ11c.555C>A (p.Pro185=)
c.816C>A (p.Pro272=)
n.974C>A
11g.17387277G>ACA379770510KCNJ11c.554C>T (p.Pro185Leu)
c.815C>T (p.Pro272Leu)
n.973C>T
11g.17387277G>CCA379770511KCNJ11c.554C>G (p.Pro185Arg)
c.815C>G (p.Pro272Arg)
n.973C>G
11g.17387277G>TCA379770512KCNJ11c.554C>A (p.Pro185His)
c.815C>A (p.Pro272His)
n.973C>A
11g.17387277_17387278insACA2695213384KCNJ11c.553_554insT (p.Pro185LeufsTer?)
c.814_815insT (p.Pro272LeufsTer?)
n.972_973insT
11g.17387278G>ACA379770514KCNJ11c.553C>T (p.Pro185Ser)
c.814C>T (p.Pro272Ser)
n.972C>T
 dbSNP gnomAD v3 gnomAD v4
11g.17387278G>CCA379770519KCNJ11c.553C>G (p.Pro185Ala)
c.814C>G (p.Pro272Ala)
n.972C>G
11g.17387278G=CA1955119191KCNJ11c.553C= (p.Pro185=)
c.814C= (p.Pro272=)
n.972C=
11g.17387278G>TCA379770516KCNJ11c.553C>A (p.Pro185Thr)
c.814C>A (p.Pro272Thr)
n.972C>A
11g.17387278_17387279insACA5902241KCNJ11c.552_553insT (p.Pro185SerfsTer?)
c.813_814insT (p.Pro272SerfsTer?)
n.971_972insT
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387279T>ACA5902242KCNJ11c.552A>T (p.Ala184=)
c.813A>T (p.Ala271=)
n.971A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387279T>CCA473515402KCNJ11c.552A>G (p.Ala184=)
c.813A>G (p.Ala271=)
n.971A>G
11g.17387279T>GCA473515403KCNJ11c.552A>C (p.Ala184=)
c.813A>C (p.Ala271=)
n.971A>C
11g.17387279T=CA1955119192KCNJ11c.552A= (p.Ala184=)
c.813A= (p.Ala271=)
n.971A=
11g.17387279delinsAACA2695213386KCNJ11c.552delinsTT (p.Pro185SerfsTer?)
c.813delinsTT (p.Pro272SerfsTer?)
n.971delinsTT
11g.17387279delinsAGACA2695213385KCNJ11c.552delinsTCT (p.Pro185LeufsTer?)
c.813delinsTCT (p.Pro272LeufsTer?)
n.971delinsTCT
11g.17387280G>ACA379770532KCNJ11c.551C>T (p.Ala184Val)
c.812C>T (p.Ala271Val)
n.970C>T
11g.17387280G>CCA379770534KCNJ11c.551C>G (p.Ala184Gly)
c.812C>G (p.Ala271Gly)
n.970C>G
11g.17387280G>TCA379770538KCNJ11c.551C>A (p.Ala184Glu)
c.812C>A (p.Ala271Glu)
n.970C>A
11g.17387281C>ACA379770542KCNJ11c.550G>T (p.Ala184Ser)
c.811G>T (p.Ala271Ser)
n.969G>T
11g.17387281C>GCA379770545KCNJ11c.550G>C (p.Ala184Pro)
c.811G>C (p.Ala271Pro)
n.969G>C
11g.17387281C>TCA379770546KCNJ11c.550G>A (p.Ala184Thr)
c.811G>A (p.Ala271Thr)
n.969G>A
 ClinVar gnomAD v4
11g.17387282C>ACA473515404KCNJ11c.549G>T (p.Leu183=)
c.810G>T (p.Leu270=)
n.968G>T
11g.17387282C=CA1955119193KCNJ11c.549G= (p.Leu183=)
c.810G= (p.Leu270=)
n.968G=
11g.17387282C>GCA473515405KCNJ11c.549G>C (p.Leu183=)
c.810G>C (p.Leu270=)
n.968G>C
11g.17387282C>TCA473515406KCNJ11c.549G>A (p.Leu183=)
c.810G>A (p.Leu270=)
n.968G>A
 dbSNP gnomAD v4
11g.17387283A>CCA379770547KCNJ11c.548T>G (p.Leu183Arg)
c.809T>G (p.Leu270Arg)
n.967T>G
11g.17387283A>GCA379770548KCNJ11c.548T>C (p.Leu183Pro)
c.809T>C (p.Leu270Pro)
n.967T>C
11g.17387283A>TCA379770550KCNJ11c.548T>A (p.Leu183Gln)
c.809T>A (p.Leu270Gln)
n.967T>A
11g.17387284G>ACA473515407KCNJ11c.547C>T (p.Leu183=)
c.808C>T (p.Leu270=)
n.966C>T
11g.17387284G>CCA172346KCNJ11c.547C>G (p.Leu183Val)
c.808C>G (p.Leu270Val)
n.966C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387284G=CA1955119194KCNJ11c.547C= (p.Leu183=)
c.808C= (p.Leu270=)
n.966C=
11g.17387284G>TCA5902243KCNJ11c.547C>A (p.Leu183Met)
c.808C>A (p.Leu270Met)
n.966C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387285G>ACA473515408KCNJ11c.546C>T (p.Asp182=)
c.807C>T (p.Asp269=)
n.965C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17387285G>CCA379770561KCNJ11c.546C>G (p.Asp182Glu)
c.807C>G (p.Asp269Glu)
n.965C>G
11g.17387285G=CA1955119195KCNJ11c.546C= (p.Asp182=)
c.807C= (p.Asp269=)
n.965C=
11g.17387285G>TCA379770563KCNJ11c.546C>A (p.Asp182Glu)
c.807C>A (p.Asp269Glu)
n.965C>A
 COSMIC
11g.17387286T>ACA379770567KCNJ11c.545A>T (p.Asp182Val)
c.806A>T (p.Asp269Val)
n.964A>T
11g.17387286T>CCA379770570KCNJ11c.545A>G (p.Asp182Gly)
c.806A>G (p.Asp269Gly)
n.964A>G
11g.17387286T>GCA379770573KCNJ11c.545A>C (p.Asp182Ala)
c.806A>C (p.Asp269Ala)
n.964A>C
11g.17387287C>ACA379770587KCNJ11c.544G>T (p.Asp182Tyr)
c.805G>T (p.Asp269Tyr)
n.963G>T
11g.17387287C=CA1955119196KCNJ11c.544G= (p.Asp182=)
c.805G= (p.Asp269=)
n.963G=
11g.17387287C>GCA379770583KCNJ11c.544G>C (p.Asp182His)
c.805G>C (p.Asp269His)
n.963G>C
11g.17387287C>TCA5902244KCNJ11c.544G>A (p.Asp182Asn)
c.805G>A (p.Asp269Asn)
n.963G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387288G>ACA5902245KCNJ11c.543C>T (p.Tyr181=)
c.804C>T (p.Tyr268=)
n.962C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387288G>CCA379770593KCNJ11c.543C>G (p.Tyr181Ter)
c.804C>G (p.Tyr268Ter)
n.962C>G
11g.17387288G=CA1955119197KCNJ11c.543C= (p.Tyr181=)
c.804C= (p.Tyr268=)
n.962C=
11g.17387288G>TCA379770596KCNJ11c.543C>A (p.Tyr181Ter)
c.804C>A (p.Tyr268Ter)
n.962C>A
11g.17387289T>ACA379770599KCNJ11c.542A>T (p.Tyr181Phe)
c.803A>T (p.Tyr268Phe)
n.961A>T
 ClinVar dbSNP
11g.17387289T>CCA379770603KCNJ11c.542A>G (p.Tyr181Cys)
c.803A>G (p.Tyr268Cys)
n.961A>G
11g.17387289T>GCA379770606KCNJ11c.542A>C (p.Tyr181Ser)
c.803A>C (p.Tyr268Ser)
n.961A>C
11g.17387289T=CA1955119198KCNJ11c.542A= (p.Tyr181=)
c.803A= (p.Tyr268=)
n.961A=
11g.17387290A>CCA379770610KCNJ11c.541T>G (p.Tyr181Asp)
c.802T>G (p.Tyr268Asp)
n.960T>G
11g.17387290A>GCA379770615KCNJ11c.541T>C (p.Tyr181His)
c.802T>C (p.Tyr268His)
n.960T>C
11g.17387290A>TCA379770612KCNJ11c.541T>A (p.Tyr181Asn)
c.802T>A (p.Tyr268Asn)
n.960T>A
11g.17387291G>ACA473515409KCNJ11c.540C>T (p.Leu180=)
c.801C>T (p.Leu267=)
n.959C>T
 dbSNP
11g.17387291G>CCA172344KCNJ11c.540C>G (p.Leu180=)
c.801C>G (p.Leu267=)
n.959C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387291G=CA1630848603KCNJ11c.540C= (p.Leu180=)
c.801C= (p.Leu267=)
n.959C=
11g.17387291G>TCA473515410KCNJ11c.540C>A (p.Leu180=)
c.801C>A (p.Leu267=)
n.959C>A
11g.17387292A>CCA379770621KCNJ11c.539T>G (p.Leu180Arg)
c.800T>G (p.Leu267Arg)
n.958T>G
11g.17387292A>GCA379770624KCNJ11c.539T>C (p.Leu180Pro)
c.800T>C (p.Leu267Pro)
n.958T>C
11g.17387292A>TCA379770627KCNJ11c.539T>A (p.Leu180His)
c.800T>A (p.Leu267His)
n.958T>A
11g.17387293G>ACA379770629KCNJ11c.538C>T (p.Leu180Phe)
c.799C>T (p.Leu267Phe)
n.957C>T
11g.17387293G>CCA379770635KCNJ11c.538C>G (p.Leu180Val)
c.799C>G (p.Leu267Val)
n.957C>G
11g.17387293G>TCA379770640KCNJ11c.538C>A (p.Leu180Ile)
c.799C>A (p.Leu267Ile)
n.957C>A
11g.17387294T>ACA473515411KCNJ11c.537A>T (p.Pro179=)
c.798A>T (p.Pro266=)
n.956A>T
11g.17387294T>CCA5902246KCNJ11c.537A>G (p.Pro179=)
c.798A>G (p.Pro266=)
n.956A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387294T>GCA473515412KCNJ11c.537A>C (p.Pro179=)
c.798A>C (p.Pro266=)
n.956A>C
11g.17387294T=CA1955119199KCNJ11c.537A= (p.Pro179=)
c.798A= (p.Pro266=)
n.956A=
11g.17387295G>ACA379770647KCNJ11c.536C>T (p.Pro179Leu)
c.797C>T (p.Pro266Leu)
n.955C>T
 ClinVar dbSNP COSMIC
11g.17387295G>CCA379770649KCNJ11c.536C>G (p.Pro179Arg)
c.797C>G (p.Pro266Arg)
n.955C>G
11g.17387295G=CA1955119200KCNJ11c.536C= (p.Pro179=)
c.797C= (p.Pro266=)
n.955C=
11g.17387295G>TCA379770652KCNJ11c.536C>A (p.Pro179Gln)
c.797C>A (p.Pro266Gln)
n.955C>A
11g.17387296G>ACA379770658KCNJ11c.535C>T (p.Pro179Ser)
c.796C>T (p.Pro266Ser)
n.954C>T
 COSMIC
11g.17387296G>CCA379770657KCNJ11c.535C>G (p.Pro179Ala)
c.796C>G (p.Pro266Ala)
n.954C>G
11g.17387296G=CA1955119201KCNJ11c.535C= (p.Pro179=)
c.796C= (p.Pro266=)
n.954C=
11g.17387296G>TCA379770656KCNJ11c.535C>A (p.Pro179Thr)
c.796C>A (p.Pro266Thr)
n.954C>A
 dbSNP
11g.17387297G>ACA473515413KCNJ11c.534C>T (p.Ser178=)
c.795C>T (p.Ser265=)
n.953C>T
 ClinVar dbSNP gnomAD v4
11g.17387297G>CCA379770659KCNJ11c.534C>G (p.Ser178Arg)
c.795C>G (p.Ser265Arg)
n.953C>G
11g.17387297G>TCA379770662KCNJ11c.534C>A (p.Ser178Arg)
c.795C>A (p.Ser265Arg)
n.953C>A
 gnomAD v4
11g.17387298C>ACA379770671KCNJ11c.533G>T (p.Ser178Ile)
c.794G>T (p.Ser265Ile)
n.952G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17387298C=CA1955119202KCNJ11c.533G= (p.Ser178=)
c.794G= (p.Ser265=)
n.952G=
11g.17387298C>GCA379770674KCNJ11c.533G>C (p.Ser178Thr)
c.794G>C (p.Ser265Thr)
n.952G>C
11g.17387298C>TCA379770678KCNJ11c.533G>A (p.Ser178Asn)
c.794G>A (p.Ser265Asn)
n.952G>A
11g.17387299T>ACA379770686KCNJ11c.532A>T (p.Ser178Cys)
c.793A>T (p.Ser265Cys)
n.951A>T
11g.17387299T>CCA379770689KCNJ11c.532A>G (p.Ser178Gly)
c.793A>G (p.Ser265Gly)
n.951A>G
11g.17387299T>GCA379770695KCNJ11c.532A>C (p.Ser178Arg)
c.793A>C (p.Ser265Arg)
n.951A>C
11g.17387300G>ACA473515414KCNJ11c.531C>T (p.Asn177=)
c.792C>T (p.Asn264=)
n.950C>T
 ClinVar dbSNP gnomAD v4
11g.17387300G>CCA379770704KCNJ11c.531C>G (p.Asn177Lys)
c.792C>G (p.Asn264Lys)
n.950C>G
 gnomAD v4
11g.17387300G=CA1955119203KCNJ11c.531C= (p.Asn177=)
c.792C= (p.Asn264=)
n.950C=
11g.17387300G>TCA379770713KCNJ11c.531C>A (p.Asn177Lys)
c.792C>A (p.Asn264Lys)
n.950C>A
11g.17387301T>ACA379770716KCNJ11c.530A>T (p.Asn177Ile)
c.791A>T (p.Asn264Ile)
n.949A>T
11g.17387301T>CCA379770717KCNJ11c.530A>G (p.Asn177Ser)
c.791A>G (p.Asn264Ser)
n.949A>G
11g.17387301T>GCA379770718KCNJ11c.530A>C (p.Asn177Thr)
c.791A>C (p.Asn264Thr)
n.949A>C
11g.17387302T>ACA379770721KCNJ11c.529A>T (p.Asn177Tyr)
c.790A>T (p.Asn264Tyr)
n.948A>T
11g.17387302T>CCA379770723KCNJ11c.529A>G (p.Asn177Asp)
c.790A>G (p.Asn264Asp)
n.948A>G
11g.17387302T>GCA379770726KCNJ11c.529A>C (p.Asn177His)
c.790A>C (p.Asn264His)
n.948A>C
11g.17387303G>ACA473515415KCNJ11c.528C>T (p.Ala176=)
c.789C>T (p.Ala263=)
n.947C>T
 ClinVar dbSNP gnomAD v4
11g.17387303G>CCA473515416KCNJ11c.528C>G (p.Ala176=)
c.789C>G (p.Ala263=)
n.947C>G
11g.17387303G>TCA473515417KCNJ11c.528C>A (p.Ala176=)
c.789C>A (p.Ala263=)
n.947C>A
11g.17387304G>ACA379770731KCNJ11c.527C>T (p.Ala176Val)
c.788C>T (p.Ala263Val)
n.946C>T
11g.17387304G>CCA379770732KCNJ11c.527C>G (p.Ala176Gly)
c.788C>G (p.Ala263Gly)
n.946C>G
11g.17387304G=CA1955119204KCNJ11c.527C= (p.Ala176=)
c.788C= (p.Ala263=)
n.946C=
11g.17387304G>TCA5902247KCNJ11c.527C>A (p.Ala176Asp)
c.788C>A (p.Ala263Asp)
n.946C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387305C>ACA379770734KCNJ11c.526G>T (p.Ala176Ser)
c.787G>T (p.Ala263Ser)
n.945G>T
11g.17387305C>GCA379770736KCNJ11c.526G>C (p.Ala176Pro)
c.787G>C (p.Ala263Pro)
n.945G>C
11g.17387305C>TCA379770738KCNJ11c.526G>A (p.Ala176Thr)
c.787G>A (p.Ala263Thr)
n.945G>A
11g.17387306A>CCA379770746KCNJ11c.525T>G (p.Asp175Glu)
c.786T>G (p.Asp262Glu)
n.944T>G
11g.17387306A>GCA473515418KCNJ11c.525T>C (p.Asp175=)
c.786T>C (p.Asp262=)
n.944T>C
11g.17387306A>TCA379770749KCNJ11c.525T>A (p.Asp175Glu)
c.786T>A (p.Asp262Glu)
n.944T>A
11g.17387307T>ACA379770753KCNJ11c.524A>T (p.Asp175Val)
c.785A>T (p.Asp262Val)
n.943A>T
11g.17387307T>CCA379770758KCNJ11c.524A>G (p.Asp175Gly)
c.785A>G (p.Asp262Gly)
n.943A>G
11g.17387307T>GCA379770760KCNJ11c.524A>C (p.Asp175Ala)
c.785A>C (p.Asp262Ala)
n.943A>C
11g.17387308C>ACA379770762KCNJ11c.523G>T (p.Asp175Tyr)
c.784G>T (p.Asp262Tyr)
n.942G>T
11g.17387308C=CA1955119205KCNJ11c.523G= (p.Asp175=)
c.784G= (p.Asp262=)
n.942G=
11g.17387308C>GCA379770764KCNJ11c.523G>C (p.Asp175His)
c.784G>C (p.Asp262His)
n.942G>C
11g.17387308C>TCA379770767KCNJ11c.523G>A (p.Asp175Asn)
c.784G>A (p.Asp262Asn)
n.942G>A
 ClinVar dbSNP gnomAD v4
11g.17387309A>CCA379770770KCNJ11c.522T>G (p.Ile174Met)
c.783T>G (p.Ile261Met)
n.941T>G
11g.17387309A>GCA473515420KCNJ11c.522T>C (p.Ile174=)
c.783T>C (p.Ile261=)
n.941T>C
 dbSNP
11g.17387309A>TCA473515419KCNJ11c.522T>A (p.Ile174=)
c.783T>A (p.Ile261=)
n.941T>A
11g.17387310A=CA1955119206KCNJ11c.521T= (p.Ile174=)
c.782T= (p.Ile261=)
n.940T=
11g.17387310A>CCA379770775KCNJ11c.521T>G (p.Ile174Ser)
c.782T>G (p.Ile261Ser)
n.940T>G
11g.17387310A>GCA379770793KCNJ11c.521T>C (p.Ile174Thr)
c.782T>C (p.Ile261Thr)
n.940T>C
 dbSNP gnomAD v3 gnomAD v4
11g.17387310A>TCA379770779KCNJ11c.521T>A (p.Ile174Asn)
c.782T>A (p.Ile261Asn)
n.940T>A
11g.17387311T>ACA379770795KCNJ11c.520A>T (p.Ile174Phe)
c.781A>T (p.Ile261Phe)
n.939A>T
11g.17387311T>CCA379770797KCNJ11c.520A>G (p.Ile174Val)
c.781A>G (p.Ile261Val)
n.939A>G
11g.17387311T>GCA379770800KCNJ11c.520A>C (p.Ile174Leu)
c.781A>C (p.Ile261Leu)
n.939A>C
11g.17387312G>ACA5902248KCNJ11c.519C>T (p.Val173=)
c.780C>T (p.Val260=)
n.938C>T
 dbSNP ExAC gnomAD v2
11g.17387312G>CCA473515423KCNJ11c.519C>G (p.Val173=)
c.780C>G (p.Val260=)
n.938C>G
11g.17387312G=CA1955119207KCNJ11c.519C= (p.Val173=)
c.780C= (p.Val260=)
n.938C=
11g.17387312G>TCA473515422KCNJ11c.519C>A (p.Val173=)
c.780C>A (p.Val260=)
n.938C>A
11g.17387313A>CCA379770807KCNJ11c.518T>G (p.Val173Gly)
c.779T>G (p.Val260Gly)
n.937T>G
11g.17387313A>GCA379770810KCNJ11c.518T>C (p.Val173Ala)
c.779T>C (p.Val260Ala)
n.937T>C
11g.17387313A>TCA379770813KCNJ11c.518T>A (p.Val173Asp)
c.779T>A (p.Val260Asp)
n.937T>A
11g.17387314C>ACA379770815KCNJ11c.517G>T (p.Val173Phe)
c.778G>T (p.Val260Phe)
n.936G>T
11g.17387314C=CA1955119208KCNJ11c.517G= (p.Val173=)
c.778G= (p.Val260=)
n.936G=
11g.17387314C>GCA379770818KCNJ11c.517G>C (p.Val173Leu)
c.778G>C (p.Val260Leu)
n.936G>C
11g.17387314C>TCA218399602KCNJ11c.517G>A (p.Val173Ile)
c.778G>A (p.Val260Ile)
n.936G>A
 ClinVar dbSNP

Number of alleles fetched