Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70176304G>ACA8738817KCNJ2c.1265G>A (p.Arg422Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70176304G>CCA8738816KCNJ2c.1265G>C (p.Arg422Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70176304G=CA2272996868KCNJ2c.1265G= (p.Arg422=)
17g.70176304G>TCA329636KCNJ2c.1265G>T (p.Arg422Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70176305G>ACA501700769KCNJ2c.1266G>A (p.Arg422=)
17g.70176305G>CCA501700770KCNJ2c.1266G>C (p.Arg422=)
17g.70176305G>TCA501700772KCNJ2c.1266G>T (p.Arg422=)
17g.70176306C>ACA501700774KCNJ2c.1267C>A (p.Arg423=)
17g.70176306C=CA2272996869KCNJ2c.1267C= (p.Arg423=)
17g.70176306C>GCA400864252KCNJ2c.1267C>G (p.Arg423Gly)
17g.70176306C>TCA400864254KCNJ2c.1267C>T (p.Arg423Ter)
ClinVar dbSNP gnomAD v4
17g.70176307G>ACA353940KCNJ2c.1268G>A (p.Arg423Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70176307G>CCA400864257KCNJ2c.1268G>C (p.Arg423Pro)
17g.70176307G=CA2272996870KCNJ2c.1268G= (p.Arg423=)
17g.70176307G>TCA400864259KCNJ2c.1268G>T (p.Arg423Leu)
17g.70176308A>CCA501700776KCNJ2c.1269A>C (p.Arg423=)
17g.70176308A>GCA501700777KCNJ2c.1269A>G (p.Arg423=)
17g.70176308A>TCA501700778KCNJ2c.1269A>T (p.Arg423=)
gnomAD v4
17g.70176309G>ACA400864261KCNJ2c.1270G>A (p.Glu424Lys)
17g.70176309G>CCA400864263KCNJ2c.1270G>C (p.Glu424Gln)
17g.70176309G>TCA400864265KCNJ2c.1270G>T (p.Glu424Ter)
17g.70176310A=CA2272996871KCNJ2c.1271A= (p.Glu424=)
17g.70176310A>CCA400864267KCNJ2c.1271A>C (p.Glu424Ala)
dbSNP
17g.70176310A>GCA400864271KCNJ2c.1271A>G (p.Glu424Gly)
17g.70176310A>TCA400864269KCNJ2c.1271A>T (p.Glu424Val)
17g.70176311G>ACA501700781KCNJ2c.1272G>A (p.Glu424=)
17g.70176311G>CCA400864273KCNJ2c.1272G>C (p.Glu424Asp)
17g.70176311G>TCA400864275KCNJ2c.1272G>T (p.Glu424Asp)
17g.70176312T>ACA400864278KCNJ2c.1273T>A (p.Ser425Thr)
17g.70176312T>CCA400864279KCNJ2c.1273T>C (p.Ser425Pro)
gnomAD v4
17g.70176312T>GCA400864281KCNJ2c.1273T>G (p.Ser425Ala)
17g.70176313C>ACA400864283KCNJ2c.1274C>A (p.Ser425Ter)
17g.70176313C=CA2272996872KCNJ2c.1274C= (p.Ser425=)
17g.70176313C>GCA400864285KCNJ2c.1274C>G (p.Ser425Trp)
17g.70176313C>TCA8738818KCNJ2c.1274C>T (p.Ser425Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70176314G>ACA8738819KCNJ2c.1275G>A (p.Ser425=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.70176314G>CCA501700787KCNJ2c.1275G>C (p.Ser425=)
17g.70176314G=CA2272996873KCNJ2c.1275G= (p.Ser425=)
17g.70176314G>TCA501700788KCNJ2c.1275G>T (p.Ser425=)
gnomAD v4
17g.70176315G>ACA400864290KCNJ2c.1276G>A (p.Glu426Lys)
17g.70176315G>CCA400864292KCNJ2c.1276G>C (p.Glu426Gln)
17g.70176315G>TCA400864293KCNJ2c.1276G>T (p.Glu426Ter)
17g.70176316A>CCA400864299KCNJ2c.1277A>C (p.Glu426Ala)
17g.70176316A>GCA400864296KCNJ2c.1277A>G (p.Glu426Gly)
17g.70176316A>TCA400864297KCNJ2c.1277A>T (p.Glu426Val)
17g.70176317G>ACA501700791KCNJ2c.1278G>A (p.Glu426=)
dbSNP gnomAD v2 gnomAD v4
17g.70176317G>CCA400864301KCNJ2c.1278G>C (p.Glu426Asp)
17g.70176317G=CA2272996874KCNJ2c.1278G= (p.Glu426=)
17g.70176317G>TCA400864303KCNJ2c.1278G>T (p.Glu426Asp)
17g.70176318A>CCA400864305KCNJ2c.1279A>C (p.Ile427Leu)
17g.70176318A>GCA400864307KCNJ2c.1279A>G (p.Ile427Val)
17g.70176318A>TCA400864309KCNJ2c.1279A>T (p.Ile427Leu)
17g.70176319T>ACA400864310KCNJ2c.1280T>A (p.Ile427Lys)
17g.70176319T>CCA400864312KCNJ2c.1280T>C (p.Ile427Thr)
17g.70176319T>GCA400864314KCNJ2c.1280T>G (p.Ile427Arg)
17g.70176320A>CCA501700796KCNJ2c.1281A>C (p.Ile427=)
17g.70176320A>GCA400864316KCNJ2c.1281A>G (p.Ile427Met)
gnomAD v4
17g.70176320A>TCA501700797KCNJ2c.1281A>T (p.Ile427=)
17g.70176321T>ACA400864319KCNJ2c.1282T>A (p.Ter428Arg)
17g.70176321T>CCA400864321KCNJ2c.1282T>C (p.Ter428Arg)
gnomAD v4
17g.70176321T>GCA400864323KCNJ2c.1282T>G (p.Ter428Gly)
17g.70176322G>ACA501700800KCNJ2c.1283G>A (p.Ter428=)
dbSNP
17g.70176322G>CCA400864327KCNJ2c.1283G>C (p.Ter428Ser)
17g.70176322G=CA2272996875KCNJ2c.1283G= (p.Ter428=)
17g.70176322G>TCA400864326KCNJ2c.1283G>T (p.Ter428Leu)
17g.70176323A>CCA400864330KCNJ2c.1284A>C (p.Ter428Cys)
17g.70176323A>GCA400864333KCNJ2c.1284A>G (p.Ter428Trp)
ClinVar
17g.70176323A>TCA400864332KCNJ2c.1284A>T (p.Ter428Cys)
17g.70176324C=CA2272996876KCNJ2c.*1C= (n.*1C=)
17g.70176324C>TCA8738820KCNJ2c.*1C>T (n.*1C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70176325T>CCA2576374383KCNJ2c.*2T>C (n.*2T>C)
gnomAD v4
17g.70176326G>ACA774606808KCNJ2c.*3G>A (n.*3G>A)
dbSNP gnomAD v3 gnomAD v4
17g.70176326G=CA2272996877KCNJ2c.*3G= (n.*3G=)
17g.70176328C>GCA2639594072KCNJ2c.*5C>G (n.*5C>G)
gnomAD v4
17g.70176329T>CCA985918422KCNJ2c.*6T>C (n.*6T>C)
dbSNP gnomAD v3 gnomAD v4
17g.70176329T=CA2272996878KCNJ2c.*6T= (n.*6T=)
17g.70176330G>ACA2639594073KCNJ2c.*7G>A (n.*7G>A)
gnomAD v4
17g.70176331_70176332delinsATCA2272996879KCNJ2c.*8_*9delinsAT (n.*8_*9delinsAT)
17g.70176333delCA8738821KCNJ2c.*10del (n.*10del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70176333T>CCA8738822KCNJ2c.*10T>C (n.*10T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70176333T=CA2272996880KCNJ2c.*10T= (n.*10T=)
17g.70176334C>ACA2639594074KCNJ2c.*11C>A (n.*11C>A)
gnomAD v4
17g.70176335C>TCA2810293661KCNJ2c.*12C>T (n.*12C>T)
17g.70176336_70176340delinsTTCTCCA2272996881KCNJ2c.*13_*17delinsTTCTC (n.*13_*17delinsTTCTC)
17g.70176337T>ACA2639594075KCNJ2c.*14T>A (n.*14T>A)
gnomAD v4
17g.70176338_70176341delCA627589845KCNJ2c.*15_*18del (n.*15_*18del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70176338_70176339delinsCTCA2272996882KCNJ2c.*15_*16delinsCT (n.*15_*16delinsCT)
17g.70176339delCA627589846KCNJ2c.*16del (n.*16del)
dbSNP gnomAD v2 gnomAD v4
17g.70176339T>CCA2639594076KCNJ2c.*16T>C (n.*16T>C)
gnomAD v4
17g.70176340C=CA2272996883KCNJ2c.*17C= (n.*17C=)
17g.70176340C>TCA293702936KCNJ2c.*17C>T (n.*17C>T)
dbSNP gnomAD v4
17g.70176341T>ACA2639594077KCNJ2c.*18T>A (n.*18T>A)
gnomAD v4
17g.70176341T>CCA291748KCNJ2c.*18T>C (n.*18T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70176341T=CA2272996884KCNJ2c.*18T= (n.*18T=)
17g.70176343G>ACA8738823KCNJ2c.*20G>A (n.*20G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70176343G>CCA627589847KCNJ2c.*20G>C (n.*20G>C)
dbSNP gnomAD v2 gnomAD v4
17g.70176343G=CA2272996885KCNJ2c.*20G= (n.*20G=)
17g.70176343G>TCA16607862KCNJ2c.*20G>T (n.*20G>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70176345A=CA2272996886KCNJ2c.*22A= (n.*22A=)
17g.70176345A>GCA8738824KCNJ2c.*22A>G (n.*22A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70176346T>ACA293702937KCNJ2c.*23T>A (n.*23T>A)
dbSNP gnomAD v2 gnomAD v4
17g.70176346T>CCA8738825KCNJ2c.*23T>C (n.*23T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70176346T=CA2272996887KCNJ2c.*23T= (n.*23T=)
17g.70176348_70176351delCA2639594078KCNJ2c.*25_*28del (n.*25_*28del)
gnomAD v4
17g.70176347A>TCA2639594079KCNJ2c.*24A>T (n.*24A>T)
gnomAD v4
17g.70176350T>ACA8738826KCNJ2c.*27T>A (n.*27T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70176350T=CA2272996888KCNJ2c.*27T= (n.*27T=)
17g.70176353T>CCA2639594081KCNJ2c.*30T>C (n.*30T>C)
gnomAD v4
17g.70176354_70176355delCA2639594080KCNJ2c.*31_*32del (n.*31_*32del)
gnomAD v4
17g.70176355T>CCA627589831KCNJ2c.*32T>C (n.*32T>C)
dbSNP gnomAD v2 gnomAD v4
17g.70176355T=CA2272996889KCNJ2c.*32T= (n.*32T=)
17g.70176356A=CA2272996890KCNJ2c.*33A= (n.*33A=)
17g.70176356A>CCA2576374384KCNJ2c.*33A>C (n.*33A>C)
17g.70176356A>GCA627589832KCNJ2c.*33A>G (n.*33A>G)
dbSNP gnomAD v2 gnomAD v4
17g.70176358A=CA2272996891KCNJ2c.*35A= (n.*35A=)
17g.70176358A>CCA8738827KCNJ2c.*35A>C (n.*35A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70176360C>ACA627589833KCNJ2c.*37C>A (n.*37C>A)
dbSNP gnomAD v2 gnomAD v4
17g.70176360C=CA2272996892KCNJ2c.*37C= (n.*37C=)
17g.70176360C>TCA8738828KCNJ2c.*37C>T (n.*37C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70176361A=CA2272996893KCNJ2c.*38A= (n.*38A=)
17g.70176361A>GCA774606860KCNJ2c.*38A>G (n.*38A>G)
dbSNP gnomAD v3 gnomAD v4
17g.70176361dupCA2639594082KCNJ2c.*38dup (n.*38dup)
gnomAD v4
17g.70176362delCA2639594083KCNJ2c.*39del (n.*39del)
gnomAD v4
17g.70176362C=CA2272996894KCNJ2c.*39C= (n.*39C=)
17g.70176362C>TCA627589834KCNJ2c.*39C>T (n.*39C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.70176362_70176363insTCA656856307KCNJ2c.*39_*40insT (n.*39_*40insT)
COSMIC
17g.70176363G>ACA8738831KCNJ2c.*40G>A (n.*40G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70176363G>CCA8738829KCNJ2c.*40G>C (n.*40G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70176363G=CA2272996895KCNJ2c.*40G= (n.*40G=)
17g.70176363G>TCA8738830KCNJ2c.*40G>T (n.*40G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70176364G>ACA627589835KCNJ2c.*41G>A (n.*41G>A)
dbSNP gnomAD v2 gnomAD v4
17g.70176364G=CA2272996896KCNJ2c.*41G= (n.*41G=)
17g.70176364G>TCA2272996897KCNJ2c.*41G>T (n.*41G>T)
dbSNP
17g.70176365delCA2639594084KCNJ2c.*42del (n.*42del)
gnomAD v4
17g.70176365T>CCA985918449KCNJ2c.*42T>C (n.*42T>C)
dbSNP gnomAD v3 gnomAD v4
17g.70176365T=CA2272996898KCNJ2c.*42T= (n.*42T=)
17g.70176366C>ACA2639594085KCNJ2c.*43C>A (n.*43C>A)
gnomAD v4
17g.70176366C=CA2272996899KCNJ2c.*43C= (n.*43C=)
17g.70176366C>TCA8738832KCNJ2c.*43C>T (n.*43C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70176368G>ACA2810293662KCNJ2c.*45G>A (n.*45G>A)
17g.70176369T>CCA8738833KCNJ2c.*46T>C (n.*46T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70176369T>GCA774606874KCNJ2c.*46T>G (n.*46T>G)
dbSNP gnomAD v4
17g.70176369T=CA2272996900KCNJ2c.*46T= (n.*46T=)
17g.70176370T>CCA985918450KCNJ2c.*47T>C (n.*47T>C)
dbSNP gnomAD v3 gnomAD v4
17g.70176370T=CA2272996901KCNJ2c.*47T= (n.*47T=)
17g.70176371G>ACA2272996903KCNJ2c.*48G>A (n.*48G>A)
dbSNP gnomAD v4
17g.70176371G=CA2272996902KCNJ2c.*48G= (n.*48G=)
17g.70176371G>TCA627589836KCNJ2c.*48G>T (n.*48G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70176372_70176379dupCA8738834KCNJ2c.*49_*56dup (n.*49_*56dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70176372G>ACA627589837KCNJ2c.*49G>A (n.*49G>A)
dbSNP gnomAD v2
17g.70176372G=CA2272996904KCNJ2c.*49G= (n.*49G=)
17g.70176372G>TCA2576374385KCNJ2c.*49G>T (n.*49G>T)
17g.70176373T>ACA2576374386KCNJ2c.*50T>A (n.*50T>A)
17g.70176374C>ACA2576374387KCNJ2c.*51C>A (n.*51C>A)
gnomAD v4
17g.70176374C>TCA2639594086KCNJ2c.*51C>T (n.*51C>T)
gnomAD v4
17g.70176375A=CA2272996905KCNJ2c.*52A= (n.*52A=)
17g.70176375A>CCA8738836KCNJ2c.*52A>C (n.*52A>C)
dbSNP ExAC gnomAD v2
17g.70176375A>GCA8738835KCNJ2c.*52A>G (n.*52A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70176377A>CCA2576374388KCNJ2c.*54A>C (n.*54A>C)
gnomAD v4
17g.70176378G>ACA293702938KCNJ2c.*55G>A (n.*55G>A)
dbSNP
17g.70176378G=CA2272996906KCNJ2c.*55G= (n.*55G=)
17g.70176378_70176379delCA2639594087KCNJ2c.*55_*56del (n.*55_*56del)
gnomAD v4
17g.70176379G>ACA985918465KCNJ2c.*56G>A (n.*56G>A)
dbSNP gnomAD v3 gnomAD v4
17g.70176379G=CA2272996907KCNJ2c.*56G= (n.*56G=)
17g.70176379G>TCA2639594088KCNJ2c.*56G>T (n.*56G>T)
gnomAD v4
17g.70176380C>ACA2576374389KCNJ2c.*57C>A (n.*57C>A)
gnomAD v4
17g.70176381C>ACA2639594089KCNJ2c.*58C>A (n.*58C>A)
gnomAD v4
17g.70176381C>TCA2576374390KCNJ2c.*58C>T (n.*58C>T)
17g.70176382C>ACA2576374391KCNJ2c.*59C>A (n.*59C>A)
gnomAD v4
17g.70176382_70176384delCA2639594090KCNJ2c.*59_*61del (n.*59_*61del)
gnomAD v4
17g.70176383A>CCA2576374393KCNJ2c.*60A>C (n.*60A>C)
gnomAD v4
17g.70176386delCA2576374392KCNJ2c.*63del (n.*63del)
17g.70176384A=CA2272996908KCNJ2c.*61A= (n.*61A=)
17g.70176384A>GCA293702939KCNJ2c.*61A>G (n.*61A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70176385_70176386insCACACCCAACCA2810293663KCNJ2c.*62_*63insCACACCCAAC (n.*62_*63insCACACCCAAC)
17g.70176386A=CA2272996909KCNJ2c.*63A= (n.*63A=)
17g.70176386A>CCA985918469KCNJ2c.*63A>C (n.*63A>C)
dbSNP gnomAD v3 gnomAD v4
17g.70176386A>GCA2639594091KCNJ2c.*63A>G (n.*63A>G)
gnomAD v4
17g.70176387C>ACA2576374394KCNJ2c.*64C>A (n.*64C>A)
gnomAD v4
17g.70176387C=CA2272996910KCNJ2c.*64C= (n.*64C=)
17g.70176387C>TCA627589838KCNJ2c.*64C>T (n.*64C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70176388A>GCA2734126718KCNJ2c.*65A>G (n.*65A>G)
dbSNP
17g.70176389G=CA2272996911KCNJ2c.*66G= (n.*66G=)
17g.70176389G>TCA293702940KCNJ2c.*66G>T (n.*66G>T)
dbSNP gnomAD v4
17g.70176391T>CCA2272996913KCNJ2c.*68T>C (n.*68T>C)
dbSNP
17g.70176391T=CA2272996912KCNJ2c.*68T= (n.*68T=)
17g.70176392A>GCA2810293664KCNJ2c.*69A>G (n.*69A>G)
17g.70176393T>CCA293702941KCNJ2c.*70T>C (n.*70T>C)
dbSNP gnomAD v4
17g.70176393T=CA2272996914KCNJ2c.*70T= (n.*70T=)
17g.70176394A=CA2272996915KCNJ2c.*71A= (n.*71A=)
17g.70176394A>CCA2576374395KCNJ2c.*71A>C (n.*71A>C)
17g.70176394A>GCA985918476KCNJ2c.*71A>G (n.*71A>G)
dbSNP gnomAD v3 gnomAD v4
17g.70176395C>ACA2639594093KCNJ2c.*72C>A (n.*72C>A)
gnomAD v4
17g.70176395C>TCA2639594092KCNJ2c.*72C>T (n.*72C>T)
gnomAD v4
17g.70176397G>ACA627589839KCNJ2c.*74G>A (n.*74G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70176397G=CA2272996916KCNJ2c.*74G= (n.*74G=)
17g.70176398_70176399delinsATCA2272996917KCNJ2c.*75_*76delinsAT (n.*75_*76delinsAT)
17g.70176399delCA293702942KCNJ2c.*76del (n.*76del)
dbSNP gnomAD v3 gnomAD v4
17g.70176400G>ACA2639594094KCNJ2c.*77G>A (n.*77G>A)
gnomAD v4
17g.70176401A=CA2272996919KCNJ2c.*78A= (n.*78A=)
17g.70176401A>GCA2639594095KCNJ2c.*78A>G (n.*78A>G)
gnomAD v4
17g.70176401A>TCA2272996918KCNJ2c.*78A>T (n.*78A>T)
dbSNP gnomAD v4
17g.70176402C>ACA2576374396KCNJ2c.*79C>A (n.*79C>A)
gnomAD v4
17g.70176402C=CA2272996920KCNJ2c.*79C= (n.*79C=)
17g.70176402C>TCA10649957KCNJ2c.*79C>T (n.*79C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70176402_70176403insTCA656856308KCNJ2c.*79_*80insT (n.*79_*80insT)
17g.70176403G>ACA985918489KCNJ2c.*80G>A (n.*80G>A)
dbSNP gnomAD v3 gnomAD v4
17g.70176403G=CA2272996921KCNJ2c.*80G= (n.*80G=)
17g.70176403G>TCA2639594096KCNJ2c.*80G>T (n.*80G>T)
gnomAD v4
17g.70176404G>ACA2576374397KCNJ2c.*81G>A (n.*81G>A)
gnomAD v4
17g.70176404G>TCA2576374398KCNJ2c.*81G>T (n.*81G>T)
gnomAD v4

Number of alleles fetched