Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175114A=CA2272996432KCNJ2c.75A= (p.Ala25=)
17g.70175114A>CCA501700163KCNJ2c.75A>C (p.Ala25=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175114A>GCA501700164KCNJ2c.75A>G (p.Ala25=)
dbSNP gnomAD v2 gnomAD v4
17g.70175114A>TCA501700165KCNJ2c.75A>T (p.Ala25=)
17g.70175115G>ACA400859807KCNJ2c.76G>A (p.Val26Ile)
dbSNP
17g.70175115G>CCA400859808KCNJ2c.76G>C (p.Val26Leu)
17g.70175115G=CA2272996433KCNJ2c.76G= (p.Val26=)
17g.70175115G>TCA400859809KCNJ2c.76G>T (p.Val26Phe)
gnomAD v4
17g.70175116T>ACA400859810KCNJ2c.77T>A (p.Val26Asp)
17g.70175116T>CCA400859811KCNJ2c.77T>C (p.Val26Ala)
17g.70175116T>GCA400859812KCNJ2c.77T>G (p.Val26Gly)
17g.70175117T>ACA501700168KCNJ2c.78T>A (p.Val26=)
17g.70175117T>CCA501700169KCNJ2c.78T>C (p.Val26=)
17g.70175117T>GCA8738687KCNJ2c.78T>G (p.Val26=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175117T=CA2272996434KCNJ2c.78T= (p.Val26=)
17g.70175118G>ACA400859813KCNJ2c.79G>A (p.Ala27Thr)
17g.70175118G>CCA400859814KCNJ2c.79G>C (p.Ala27Pro)
17g.70175118G>TCA400859815KCNJ2c.79G>T (p.Ala27Ser)
17g.70175119C>ACA400859816KCNJ2c.80C>A (p.Ala27Glu)
17g.70175119C>GCA400859817KCNJ2c.80C>G (p.Ala27Gly)
17g.70175119C>TCA400859818KCNJ2c.80C>T (p.Ala27Val)
17g.70175120A=CA2272996435KCNJ2c.81A= (p.Ala27=)
17g.70175120A>CCA501700175KCNJ2c.81A>C (p.Ala27=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175120A>GCA501700177KCNJ2c.81A>G (p.Ala27=)
17g.70175120A>TCA501700178KCNJ2c.81A>T (p.Ala27=)
17g.70175122dupCA501700179KCNJ2c.83dup (p.Asn28LysfsTer9)
17g.70175121A>CCA400859820KCNJ2c.82A>C (p.Asn28His)
17g.70175121A>GCA400859821KCNJ2c.82A>G (p.Asn28Asp)
17g.70175121A>TCA400859819KCNJ2c.82A>T (p.Asn28Tyr)
17g.70175122A=CA2272996436KCNJ2c.83A= (p.Asn28=)
17g.70175122A>CCA400859822KCNJ2c.83A>C (p.Asn28Thr)
17g.70175122A>GCA400859823KCNJ2c.83A>G (p.Asn28Ser)
ClinVar dbSNP
17g.70175122A>TCA400859824KCNJ2c.83A>T (p.Asn28Ile)
17g.70175123T>ACA400859825KCNJ2c.84T>A (p.Asn28Lys)
17g.70175123T>CCA501700183KCNJ2c.84T>C (p.Asn28=)
17g.70175123T>GCA400859826KCNJ2c.84T>G (p.Asn28Lys)
17g.70175124G>ACA400859827KCNJ2c.85G>A (p.Gly29Ser)
17g.70175124G>CCA400859828KCNJ2c.85G>C (p.Gly29Arg)
17g.70175124G>TCA400859829KCNJ2c.85G>T (p.Gly29Cys)
17g.70175125G>ACA400859830KCNJ2c.86G>A (p.Gly29Asp)
COSMIC
17g.70175125G>CCA400859831KCNJ2c.86G>C (p.Gly29Ala)
gnomAD v4
17g.70175125G>TCA400859832KCNJ2c.86G>T (p.Gly29Val)
gnomAD v4
17g.70175126C>ACA501700194KCNJ2c.87C>A (p.Gly29=)
ClinVar dbSNP
17g.70175126C=CA2272996437KCNJ2c.87C= (p.Gly29=)
17g.70175126C>GCA501700192KCNJ2c.87C>G (p.Gly29=)
17g.70175126C>TCA293702898KCNJ2c.87C>T (p.Gly29=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175127T>ACA400859835KCNJ2c.88T>A (p.Phe30Ile)
17g.70175127T>CCA400859833KCNJ2c.88T>C (p.Phe30Leu)
17g.70175127T>GCA400859834KCNJ2c.88T>G (p.Phe30Val)
17g.70175128T>ACA400859836KCNJ2c.89T>A (p.Phe30Tyr)
gnomAD v4
17g.70175128T>CCA400859837KCNJ2c.89T>C (p.Phe30Ser)
ClinVar gnomAD v4
17g.70175128T>GCA400859838KCNJ2c.89T>G (p.Phe30Cys)
17g.70175129T>ACA400859839KCNJ2c.90T>A (p.Phe30Leu)
17g.70175129T>CCA501700195KCNJ2c.90T>C (p.Phe30=)
17g.70175129T>GCA400859840KCNJ2c.90T>G (p.Phe30Leu)
gnomAD v4
17g.70175130G>ACA400859841KCNJ2c.91G>A (p.Gly31Arg)
17g.70175130G>CCA400859842KCNJ2c.91G>C (p.Gly31Arg)
17g.70175130G>TCA400859843KCNJ2c.91G>T (p.Gly31Trp)
17g.70175131G>ACA400859844KCNJ2c.92G>A (p.Gly31Glu)
gnomAD v4
17g.70175131G>CCA400859845KCNJ2c.92G>C (p.Gly31Ala)
17g.70175131G>TCA400859846KCNJ2c.92G>T (p.Gly31Val)
dbSNP COSMIC
17g.70175132G>ACA501700197KCNJ2c.93G>A (p.Gly31=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175132G>CCA501700198KCNJ2c.93G>C (p.Gly31=)
gnomAD v4
17g.70175132G=CA2272996438KCNJ2c.93G= (p.Gly31=)
17g.70175132G>TCA501700199KCNJ2c.93G>T (p.Gly31=)
17g.70175133A>CCA400859848KCNJ2c.94A>C (p.Asn32His)
17g.70175133A>GCA400859849KCNJ2c.94A>G (p.Asn32Asp)
17g.70175133A>TCA400859847KCNJ2c.94A>T (p.Asn32Tyr)
17g.70175134A>CCA400859850KCNJ2c.95A>C (p.Asn32Thr)
17g.70175134A>GCA400859851KCNJ2c.95A>G (p.Asn32Ser)
gnomAD v4
17g.70175134A>TCA400859852KCNJ2c.95A>T (p.Asn32Ile)
17g.70175134_70175137delCA2695226993KCNJ2c.95_98del (p.Asn32ArgfsTer16)
17g.70175135C>ACA400859853KCNJ2c.96C>A (p.Asn32Lys)
gnomAD v4
17g.70175135C=CA2272996439KCNJ2c.96C= (p.Asn32=)
17g.70175135C>GCA400859854KCNJ2c.96C>G (p.Asn32Lys)
ClinVar
17g.70175135C>TCA8738688KCNJ2c.96C>T (p.Asn32=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.70175136G>ACA400859855KCNJ2c.97G>A (p.Gly33Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.70175136G>CCA293702899KCNJ2c.97G>C (p.Gly33Arg)
ClinVar dbSNP gnomAD v4
17g.70175136G=CA2272996440KCNJ2c.97G= (p.Gly33=)
17g.70175136G>TCA400859856KCNJ2c.97G>T (p.Gly33Trp)
17g.70175137G>ACA400859857KCNJ2c.98G>A (p.Gly33Glu)
17g.70175137G>CCA400859858KCNJ2c.98G>C (p.Gly33Ala)
17g.70175137G>TCA400859859KCNJ2c.98G>T (p.Gly33Val)
17g.70175138G>ACA8738689KCNJ2c.99G>A (p.Gly33=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175138G>CCA501700201KCNJ2c.99G>C (p.Gly33=)
17g.70175138G=CA2272996441KCNJ2c.99G= (p.Gly33=)
17g.70175138G>TCA501700203KCNJ2c.99G>T (p.Gly33=)
17g.70175139A>CCA400859862KCNJ2c.100A>C (p.Lys34Gln)
17g.70175139A>GCA400859860KCNJ2c.100A>G (p.Lys34Glu)
17g.70175139A>TCA400859861KCNJ2c.100A>T (p.Lys34Ter)
17g.70175140A=CA2272996442KCNJ2c.101A= (p.Lys34=)
17g.70175140A>CCA400859863KCNJ2c.101A>C (p.Lys34Thr)
gnomAD v4
17g.70175140A>GCA8738690KCNJ2c.101A>G (p.Lys34Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175140A>TCA400859864KCNJ2c.101A>T (p.Lys34Met)
17g.70175141G>ACA501700205KCNJ2c.102G>A (p.Lys34=)
ClinVar dbSNP
17g.70175141G>CCA400859865KCNJ2c.102G>C (p.Lys34Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.70175141G=CA2272996443KCNJ2c.102G= (p.Lys34=)
17g.70175141G>TCA400859866KCNJ2c.102G>T (p.Lys34Asn)
ClinVar dbSNP COSMIC
17g.70175142A=CA2272996444KCNJ2c.103A= (p.Ser35=)
17g.70175142A>CCA400859867KCNJ2c.103A>C (p.Ser35Arg)
17g.70175142A>GCA400859868KCNJ2c.103A>G (p.Ser35Gly)
dbSNP gnomAD v2 gnomAD v4
17g.70175142A>TCA400859869KCNJ2c.103A>T (p.Ser35Cys)
17g.70175143G>ACA400859870KCNJ2c.104G>A (p.Ser35Asn)
17g.70175143G>CCA8738691KCNJ2c.104G>C (p.Ser35Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175143G=CA2272996445KCNJ2c.104G= (p.Ser35=)
17g.70175143G>TCA400859871KCNJ2c.104G>T (p.Ser35Ile)
17g.70175144T>ACA400859872KCNJ2c.105T>A (p.Ser35Arg)
17g.70175144T>CCA501700209KCNJ2c.105T>C (p.Ser35=)
dbSNP gnomAD v2 gnomAD v4
17g.70175144T>GCA400859873KCNJ2c.105T>G (p.Ser35Arg)
17g.70175144T=CA2272996446KCNJ2c.105T= (p.Ser35=)
17g.70175145A>CCA400859874KCNJ2c.106A>C (p.Lys36Gln)
17g.70175145A>GCA400859876KCNJ2c.106A>G (p.Lys36Glu)
ClinVar gnomAD v4
17g.70175145A>TCA400859875KCNJ2c.106A>T (p.Lys36Ter)
17g.70175146A>CCA400859877KCNJ2c.107A>C (p.Lys36Thr)
gnomAD v4
17g.70175146A>GCA400859878KCNJ2c.107A>G (p.Lys36Arg)
17g.70175146A>TCA400859879KCNJ2c.107A>T (p.Lys36Ile)
17g.70175147A>CCA400859880KCNJ2c.108A>C (p.Lys36Asn)
17g.70175147A>GCA501700214KCNJ2c.108A>G (p.Lys36=)
17g.70175147A>TCA400859881KCNJ2c.108A>T (p.Lys36Asn)
17g.70175148delCA2639594070KCNJ2c.109del (p.Val37SerfsTer12)
gnomAD v4
17g.70175148G>ACA400859884KCNJ2c.109G>A (p.Val37Ile)
17g.70175148G>CCA400859883KCNJ2c.109G>C (p.Val37Leu)
17g.70175148G>TCA400859882KCNJ2c.109G>T (p.Val37Phe)
17g.70175149T>ACA400859885KCNJ2c.110T>A (p.Val37Asp)
17g.70175149T>CCA400859886KCNJ2c.110T>C (p.Val37Ala)
17g.70175149T>GCA400859887KCNJ2c.110T>G (p.Val37Gly)
17g.70175150C>ACA501700222KCNJ2c.111C>A (p.Val37=)
17g.70175150C>GCA501700217KCNJ2c.111C>G (p.Val37=)
17g.70175150C>TCA501700219KCNJ2c.111C>T (p.Val37=)
gnomAD v4
17g.70175151C>ACA400859888KCNJ2c.112C>A (p.His38Asn)
17g.70175151C=CA2272996447KCNJ2c.112C= (p.His38=)
17g.70175151C>GCA400859889KCNJ2c.112C>G (p.His38Asp)
17g.70175151C>TCA400859890KCNJ2c.112C>T (p.His38Tyr)
dbSNP gnomAD v3 gnomAD v4
17g.70175152A>CCA400859891KCNJ2c.113A>C (p.His38Pro)
17g.70175152A>GCA400859893KCNJ2c.113A>G (p.His38Arg)
17g.70175152A>TCA400859892KCNJ2c.113A>T (p.His38Leu)
17g.70175153C>ACA400859894KCNJ2c.114C>A (p.His38Gln)
17g.70175153C>GCA400859895KCNJ2c.114C>G (p.His38Gln)
17g.70175153C>TCA501700227KCNJ2c.114C>T (p.His38=)
ClinVar gnomAD v4
17g.70175154A=CA2272996448KCNJ2c.115A= (p.Thr39=)
17g.70175154A>CCA400859896KCNJ2c.115A>C (p.Thr39Pro)
dbSNP
17g.70175154A>GCA400859897KCNJ2c.115A>G (p.Thr39Ala)
gnomAD v4
17g.70175154A>TCA400859898KCNJ2c.115A>T (p.Thr39Ser)
17g.70175155C>ACA400859899KCNJ2c.116C>A (p.Thr39Asn)
17g.70175155C=CA2272996449KCNJ2c.116C= (p.Thr39=)
17g.70175155C>GCA400859900KCNJ2c.116C>G (p.Thr39Ser)
17g.70175155C>TCA400859901KCNJ2c.116C>T (p.Thr39Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175156C>ACA501700231KCNJ2c.117C>A (p.Thr39=)
17g.70175156C>GCA501700234KCNJ2c.117C>G (p.Thr39=)
17g.70175156C>TCA501700237KCNJ2c.117C>T (p.Thr39=)
17g.70175157C>ACA501700238KCNJ2c.118C>A (p.Arg40=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175157C=CA2272996450KCNJ2c.118C= (p.Arg40=)
17g.70175157C>GCA400859902KCNJ2c.118C>G (p.Arg40Gly)
17g.70175157C>TCA302012KCNJ2c.118C>T (p.Arg40Ter)
ClinVar dbSNP
17g.70175158G>ACA8738692KCNJ2c.119G>A (p.Arg40Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175158G>CCA16615669KCNJ2c.119G>C (p.Arg40Pro)
ClinVar dbSNP
17g.70175158G=CA2272996451KCNJ2c.119G= (p.Arg40=)
17g.70175158G>TCA400859903KCNJ2c.119G>T (p.Arg40Leu)
ClinVar gnomAD v4
17g.70175158_70175161delinsGACACA2272996452KCNJ2c.119_122delinsGACA (p.Arg40=)
17g.70175159A=CA2272996453KCNJ2c.120A= (p.Arg40=)
17g.70175159A>CCA501700242KCNJ2c.120A>C (p.Arg40=)
17g.70175159A>GCA501700244KCNJ2c.120A>G (p.Arg40=)
dbSNP gnomAD v4
17g.70175159A>TCA501700245KCNJ2c.120A>T (p.Arg40=)
17g.70175162_70175164delCA627589830KCNJ2c.123_125del (p.Gln42del)
dbSNP gnomAD v2 gnomAD v4
17g.70175160C>ACA400859904KCNJ2c.121C>A (p.Gln41Lys)
gnomAD v4
17g.70175160C>GCA400859906KCNJ2c.121C>G (p.Gln41Glu)
17g.70175160C>TCA400859905KCNJ2c.121C>T (p.Gln41Ter)
COSMIC
17g.70175161A=CA2272996454KCNJ2c.122A= (p.Gln41=)
17g.70175161A>CCA400859907KCNJ2c.122A>C (p.Gln41Pro)
17g.70175161A>GCA400859908KCNJ2c.122A>G (p.Gln41Arg)
dbSNP gnomAD v4
17g.70175161A>TCA400859909KCNJ2c.122A>T (p.Gln41Leu)
17g.70175162A>CCA400859910KCNJ2c.123A>C (p.Gln41His)
17g.70175162A>GCA501700250KCNJ2c.123A>G (p.Gln41=)
17g.70175162A>TCA400859911KCNJ2c.123A>T (p.Gln41His)
17g.70175163C>ACA400859912KCNJ2c.124C>A (p.Gln42Lys)
17g.70175163C>GCA400859913KCNJ2c.124C>G (p.Gln42Glu)
17g.70175163C>TCA400859914KCNJ2c.124C>T (p.Gln42Ter)
17g.70175164A>CCA400859915KCNJ2c.125A>C (p.Gln42Pro)
17g.70175164A>GCA400859916KCNJ2c.125A>G (p.Gln42Arg)
17g.70175164A>TCA400859917KCNJ2c.125A>T (p.Gln42Leu)
17g.70175165G>ACA501700254KCNJ2c.126G>A (p.Gln42=)
ClinVar dbSNP
17g.70175165G>CCA400859918KCNJ2c.126G>C (p.Gln42His)
17g.70175165G>TCA400859919KCNJ2c.126G>T (p.Gln42His)
17g.70175166T>ACA400859922KCNJ2c.127T>A (p.Cys43Ser)
17g.70175166T>CCA400859921KCNJ2c.127T>C (p.Cys43Arg)
dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.70175166T>GCA400859920KCNJ2c.127T>G (p.Cys43Gly)
17g.70175166T=CA2272996455KCNJ2c.127T= (p.Cys43=)
17g.70175167G>ACA8738693KCNJ2c.128G>A (p.Cys43Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175167G>CCA400859923KCNJ2c.128G>C (p.Cys43Ser)
17g.70175167G=CA2272996456KCNJ2c.128G= (p.Cys43=)
17g.70175167G>TCA293702900KCNJ2c.128G>T (p.Cys43Phe)
dbSNP
17g.70175168C>ACA400859924KCNJ2c.129C>A (p.Cys43Ter)
17g.70175168C>GCA400859925KCNJ2c.129C>G (p.Cys43Trp)
17g.70175168C>TCA501700258KCNJ2c.129C>T (p.Cys43=)
17g.70175169A>CCA501700260KCNJ2c.130A>C (p.Arg44=)
17g.70175169A>GCA400859926KCNJ2c.130A>G (p.Arg44Gly)
17g.70175169A>TCA400859927KCNJ2c.130A>T (p.Arg44Trp)
17g.70175170G>ACA400859928KCNJ2c.131G>A (p.Arg44Lys)
ClinVar dbSNP
17g.70175170G>CCA400859929KCNJ2c.131G>C (p.Arg44Thr)
17g.70175170G>TCA400859930KCNJ2c.131G>T (p.Arg44Met)
17g.70175171G>ACA8738694KCNJ2c.132G>A (p.Arg44=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175171G>CCA400859931KCNJ2c.132G>C (p.Arg44Ser)
17g.70175171G=CA2272996457KCNJ2c.132G= (p.Arg44=)
17g.70175171G>TCA400859932KCNJ2c.132G>T (p.Arg44Ser)
17g.70175172A>CCA400859934KCNJ2c.133A>C (p.Ser45Arg)
17g.70175172A>GCA400859935KCNJ2c.133A>G (p.Ser45Gly)
17g.70175172A>TCA400859933KCNJ2c.133A>T (p.Ser45Cys)
gnomAD v4
17g.70175173G>ACA400859936KCNJ2c.134G>A (p.Ser45Asn)
17g.70175173G>CCA400859937KCNJ2c.134G>C (p.Ser45Thr)
17g.70175173G>TCA400859938KCNJ2c.134G>T (p.Ser45Ile)
17g.70175174C>ACA400859939KCNJ2c.135C>A (p.Ser45Arg)
gnomAD v4
17g.70175174C=CA2272996458KCNJ2c.135C= (p.Ser45=)
17g.70175174C>GCA400859940KCNJ2c.135C>G (p.Ser45Arg)
17g.70175174C>TCA501700268KCNJ2c.135C>T (p.Ser45=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.70175175C>ACA400859941KCNJ2c.136C>A (p.Arg46Ser)
dbSNP
17g.70175175C=CA2272996459KCNJ2c.136C= (p.Arg46=)
17g.70175175C>GCA400859942KCNJ2c.136C>G (p.Arg46Gly)
ClinVar dbSNP
17g.70175175C>TCA400859943KCNJ2c.136C>T (p.Arg46Cys)
ClinVar dbSNP gnomAD v4 COSMIC
17g.70175176G>ACA400859944KCNJ2c.137G>A (p.Arg46His)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.70175176G>CCA400859945KCNJ2c.137G>C (p.Arg46Pro)
gnomAD v4
17g.70175176G=CA2272996460KCNJ2c.137G= (p.Arg46=)
17g.70175176G>TCA400859946KCNJ2c.137G>T (p.Arg46Leu)
17g.70175177C>ACA501700273KCNJ2c.138C>A (p.Arg46=)
17g.70175177C=CA2272996461KCNJ2c.138C= (p.Arg46=)
17g.70175177C>GCA501700274KCNJ2c.138C>G (p.Arg46=)
17g.70175177C>TCA293702901KCNJ2c.138C>T (p.Arg46=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175178T>ACA400859949KCNJ2c.139T>A (p.Phe47Ile)
17g.70175178T>CCA400859948KCNJ2c.139T>C (p.Phe47Leu)
17g.70175178T>GCA400859947KCNJ2c.139T>G (p.Phe47Val)
17g.70175179T>ACA400859950KCNJ2c.140T>A (p.Phe47Tyr)
17g.70175179T>CCA400859951KCNJ2c.140T>C (p.Phe47Ser)
17g.70175179T>GCA400859952KCNJ2c.140T>G (p.Phe47Cys)
17g.70175180T>ACA400859953KCNJ2c.141T>A (p.Phe47Leu)
17g.70175180T>CCA501700278KCNJ2c.141T>C (p.Phe47=)
17g.70175180T>GCA400859954KCNJ2c.141T>G (p.Phe47Leu)
17g.70175181G>ACA400859955KCNJ2c.142G>A (p.Val48Met)
ClinVar
17g.70175181G>CCA400859956KCNJ2c.142G>C (p.Val48Leu)
17g.70175181G>TCA400859957KCNJ2c.142G>T (p.Val48Leu)
17g.70175182T>ACA400859958KCNJ2c.143T>A (p.Val48Glu)
17g.70175182T>CCA400859959KCNJ2c.143T>C (p.Val48Ala)
17g.70175182T>GCA400859960KCNJ2c.143T>G (p.Val48Gly)
17g.70175183G>ACA501700284KCNJ2c.144G>A (p.Val48=)
17g.70175183G>CCA501700285KCNJ2c.144G>C (p.Val48=)
17g.70175183G>TCA501700286KCNJ2c.144G>T (p.Val48=)
17g.70175184A>CCA400859963KCNJ2c.145A>C (p.Lys49Gln)
17g.70175184A>GCA400859962KCNJ2c.145A>G (p.Lys49Glu)
17g.70175184A>TCA400859961KCNJ2c.145A>T (p.Lys49Ter)
17g.70175185A>CCA400859964KCNJ2c.146A>C (p.Lys49Thr)
17g.70175185A>GCA400859966KCNJ2c.146A>G (p.Lys49Arg)
gnomAD v4
17g.70175185A>TCA400859965KCNJ2c.146A>T (p.Lys49Met)
17g.70175186G>ACA8738695KCNJ2c.147G>A (p.Lys49=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175186G>CCA400859967KCNJ2c.147G>C (p.Lys49Asn)
17g.70175186G=CA2272996462KCNJ2c.147G= (p.Lys49=)
17g.70175186G>TCA400859968KCNJ2c.147G>T (p.Lys49Asn)
17g.70175187A>CCA400859969KCNJ2c.148A>C (p.Lys50Gln)
gnomAD v4
17g.70175187A>GCA400859970KCNJ2c.148A>G (p.Lys50Glu)
17g.70175187A>TCA400859971KCNJ2c.148A>T (p.Lys50Ter)
17g.70175188A>CCA400859972KCNJ2c.149A>C (p.Lys50Thr)
17g.70175188A>GCA400859973KCNJ2c.149A>G (p.Lys50Arg)
ClinVar dbSNP
17g.70175188A>TCA400859974KCNJ2c.149A>T (p.Lys50Ile)
17g.70175189A>CCA400859975KCNJ2c.150A>C (p.Lys50Asn)
17g.70175189A>GCA501700297KCNJ2c.150A>G (p.Lys50=)
gnomAD v4
17g.70175189A>TCA400859976KCNJ2c.150A>T (p.Lys50Asn)
17g.70175190G>ACA400859979KCNJ2c.151G>A (p.Asp51Asn)
17g.70175190G>CCA400859977KCNJ2c.151G>C (p.Asp51His)
COSMIC
17g.70175190G>TCA400859978KCNJ2c.151G>T (p.Asp51Tyr)
17g.70175191A=CA2272996463KCNJ2c.152A= (p.Asp51=)
17g.70175191A>CCA400859980KCNJ2c.152A>C (p.Asp51Ala)
17g.70175191A>GCA400859981KCNJ2c.152A>G (p.Asp51Gly)
dbSNP
17g.70175191A>TCA400859982KCNJ2c.152A>T (p.Asp51Val)
17g.70175192T>ACA400859983KCNJ2c.153T>A (p.Asp51Glu)
17g.70175192T>CCA501700299KCNJ2c.153T>C (p.Asp51=)
gnomAD v4
17g.70175192T>GCA400859984KCNJ2c.153T>G (p.Asp51Glu)
17g.70175193G>ACA400859985KCNJ2c.154G>A (p.Gly52Ser)
17g.70175193G>CCA400859986KCNJ2c.154G>C (p.Gly52Arg)
17g.70175193G>TCA400859987KCNJ2c.154G>T (p.Gly52Cys)
17g.70175194G>ACA400859988KCNJ2c.155G>A (p.Gly52Asp)
17g.70175194G>CCA400859989KCNJ2c.155G>C (p.Gly52Ala)
17g.70175194G=CA2272996464KCNJ2c.155G= (p.Gly52=)
17g.70175194G>TCA400859990KCNJ2c.155G>T (p.Gly52Val)
ClinVar dbSNP
17g.70175195C>ACA501700302KCNJ2c.156C>A (p.Gly52=)
17g.70175195C>GCA501700303KCNJ2c.156C>G (p.Gly52=)
17g.70175195C>TCA501700304KCNJ2c.156C>T (p.Gly52=)
17g.70175196C>ACA400859992KCNJ2c.157C>A (p.His53Asn)
17g.70175196C>GCA400859993KCNJ2c.157C>G (p.His53Asp)
17g.70175196C>TCA400859991KCNJ2c.157C>T (p.His53Tyr)
17g.70175197A=CA2272996465KCNJ2c.158A= (p.His53=)
17g.70175197A>CCA400859994KCNJ2c.158A>C (p.His53Pro)
17g.70175197A>GCA400859995KCNJ2c.158A>G (p.His53Arg)
ClinVar dbSNP
17g.70175197A>TCA400859996KCNJ2c.158A>T (p.His53Leu)
17g.70175198C>ACA400859997KCNJ2c.159C>A (p.His53Gln)
17g.70175198C>GCA400859998KCNJ2c.159C>G (p.His53Gln)
17g.70175198C>TCA501700316KCNJ2c.159C>T (p.His53=)
17g.70175199T>ACA400859999KCNJ2c.160T>A (p.Cys54Ser)
17g.70175199T>CCA400860000KCNJ2c.160T>C (p.Cys54Arg)
17g.70175199T>GCA400860001KCNJ2c.160T>G (p.Cys54Gly)
ClinVar dbSNP
17g.70175200G>ACA400860002KCNJ2c.161G>A (p.Cys54Tyr)
17g.70175200G>CCA400860003KCNJ2c.161G>C (p.Cys54Ser)
17g.70175200G=CA2272996466KCNJ2c.161G= (p.Cys54=)
17g.70175200G>TCA145011KCNJ2c.161G>T (p.Cys54Phe)
ClinVar dbSNP
17g.70175201T>ACA400860004KCNJ2c.162T>A (p.Cys54Ter)
17g.70175201T>CCA501700317KCNJ2c.162T>C (p.Cys54=)
17g.70175201T>GCA400860005KCNJ2c.162T>G (p.Cys54Trp)
17g.70175201T=CA2272996467KCNJ2c.162T= (p.Cys54=)
17g.70175202A>CCA400860007KCNJ2c.163A>C (p.Asn55His)
17g.70175202A>GCA400860008KCNJ2c.163A>G (p.Asn55Asp)
17g.70175202A>TCA400860006KCNJ2c.163A>T (p.Asn55Tyr)
17g.70175203dupCA293702902KCNJ2c.164dup (p.Asn55LysfsTer9)
dbSNP
17g.70175203A=CA2272996468KCNJ2c.164A= (p.Asn55=)
17g.70175203A>CCA400860009KCNJ2c.164A>C (p.Asn55Thr)
17g.70175203A>GCA400860010KCNJ2c.164A>G (p.Asn55Ser)
17g.70175203A>TCA400860011KCNJ2c.164A>T (p.Asn55Ile)
dbSNP gnomAD v2 gnomAD v4
17g.70175204T>ACA400860012KCNJ2c.165T>A (p.Asn55Lys)
17g.70175204T>CCA8738696KCNJ2c.165T>C (p.Asn55=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175204T>GCA400860013KCNJ2c.165T>G (p.Asn55Lys)
17g.70175204T=CA2272996469KCNJ2c.165T= (p.Asn55=)
17g.70175205G>ACA400860014KCNJ2c.166G>A (p.Val56Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175205G>CCA400860015KCNJ2c.166G>C (p.Val56Leu)
17g.70175205G=CA2272996470KCNJ2c.166G= (p.Val56=)
17g.70175205G>TCA400860016KCNJ2c.166G>T (p.Val56Phe)
17g.70175206T>ACA400860017KCNJ2c.167T>A (p.Val56Asp)
17g.70175206T>CCA400860018KCNJ2c.167T>C (p.Val56Ala)
dbSNP
17g.70175206T>GCA400860019KCNJ2c.167T>G (p.Val56Gly)
17g.70175206T=CA2272996471KCNJ2c.167T= (p.Val56=)
17g.70175207T>ACA501700318KCNJ2c.168T>A (p.Val56=)
17g.70175207T>CCA8738697KCNJ2c.168T>C (p.Val56=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175207T>GCA501700319KCNJ2c.168T>G (p.Val56=)
17g.70175207T=CA2272996472KCNJ2c.168T= (p.Val56=)
17g.70175208C>ACA400860021KCNJ2c.169C>A (p.Gln57Lys)
17g.70175208C>GCA400860020KCNJ2c.169C>G (p.Gln57Glu)
17g.70175208C>TCA400860022KCNJ2c.169C>T (p.Gln57Ter)
ClinVar
17g.70175209A=CA2272996473KCNJ2c.170A= (p.Gln57=)
17g.70175209A>CCA400860023KCNJ2c.170A>C (p.Gln57Pro)
17g.70175209A>GCA400860024KCNJ2c.170A>G (p.Gln57Arg)
dbSNP gnomAD v2 gnomAD v4
17g.70175209A>TCA400860025KCNJ2c.170A>T (p.Gln57Leu)
17g.70175210G>ACA501700320KCNJ2c.171G>A (p.Gln57=)
17g.70175210G>CCA400860026KCNJ2c.171G>C (p.Gln57His)
dbSNP gnomAD v3 gnomAD v4
17g.70175210G=CA2272996474KCNJ2c.171G= (p.Gln57=)
17g.70175210G>TCA400860027KCNJ2c.171G>T (p.Gln57His)
ClinVar
17g.70175211T>ACA400860030KCNJ2c.172T>A (p.Phe58Ile)
dbSNP gnomAD v4
17g.70175211T>CCA400860029KCNJ2c.172T>C (p.Phe58Leu)
17g.70175211T>GCA400860028KCNJ2c.172T>G (p.Phe58Val)
17g.70175211T=CA2272996475KCNJ2c.172T= (p.Phe58=)
17g.70175212T>ACA400860031KCNJ2c.173T>A (p.Phe58Tyr)
17g.70175212T>CCA400860032KCNJ2c.173T>C (p.Phe58Ser)
17g.70175212T>GCA400860033KCNJ2c.173T>G (p.Phe58Cys)
17g.70175213C>ACA400860034KCNJ2c.174C>A (p.Phe58Leu)
17g.70175213C=CA2272996476KCNJ2c.174C= (p.Phe58=)
17g.70175213C>GCA400860035KCNJ2c.174C>G (p.Phe58Leu)
17g.70175213C>TCA291730KCNJ2c.174C>T (p.Phe58=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175214A>CCA400860038KCNJ2c.175A>C (p.Ile59Leu)
17g.70175214A>GCA400860036KCNJ2c.175A>G (p.Ile59Val)
17g.70175214A>TCA400860037KCNJ2c.175A>T (p.Ile59Phe)

Number of alleles fetched