Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175257T>ACA400860126KCNJ2c.218T>A (p.Phe73Tyr)
17g.70175257T>CCA400860127KCNJ2c.218T>C (p.Phe73Ser)
17g.70175257T>GCA400860128KCNJ2c.218T>G (p.Phe73Cys)
17g.70175258C>ACA400860129KCNJ2c.219C>A (p.Phe73Leu)
COSMIC
17g.70175258C=CA2272996491KCNJ2c.219C= (p.Phe73=)
17g.70175258C>GCA400860130KCNJ2c.219C>G (p.Phe73Leu)
17g.70175258C>TCA501700360KCNJ2c.219C>T (p.Phe73=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175261_70175263dupCA913184886KCNJ2c.222_224dup (p.Thr75_Cys76insThr)
17g.70175259A=CA2272996492KCNJ2c.220A= (p.Thr74=)
17g.70175259A>CCA400860132KCNJ2c.220A>C (p.Thr74Pro)
17g.70175259A>GCA329645KCNJ2c.220A>G (p.Thr74Ala)
ClinVar dbSNP gnomAD v4
17g.70175259A>TCA400860131KCNJ2c.220A>T (p.Thr74Ser)
17g.70175260C>ACA400860134KCNJ2c.221C>A (p.Thr74Asn)
17g.70175260C>GCA400860133KCNJ2c.221C>G (p.Thr74Ser)
17g.70175260C>TCA400860135KCNJ2c.221C>T (p.Thr74Ile)
gnomAD v4
17g.70175261C>ACA501700366KCNJ2c.222C>A (p.Thr74=)
17g.70175261C=CA2272996493KCNJ2c.222C= (p.Thr74=)
17g.70175261C>GCA501700367KCNJ2c.222C>G (p.Thr74=)
17g.70175261C>TCA293702906KCNJ2c.222C>T (p.Thr74=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175262A=CA2272996494KCNJ2c.223A= (p.Thr75=)
17g.70175262A>CCA400860136KCNJ2c.223A>C (p.Thr75Pro)
17g.70175262A>GCA329648KCNJ2c.223A>G (p.Thr75Ala)
ClinVar dbSNP
17g.70175262A>TCA400860137KCNJ2c.223A>T (p.Thr75Ser)
17g.70175263C>ACA400860138KCNJ2c.224C>A (p.Thr75Lys)
ClinVar COSMIC
17g.70175263C=CA2272996495KCNJ2c.224C= (p.Thr75=)
17g.70175263C>GCA254602KCNJ2c.224C>G (p.Thr75Arg)
ClinVar dbSNP
17g.70175263C>TCA302067KCNJ2c.224C>T (p.Thr75Met)
ClinVar dbSNP COSMIC
17g.70175264G>ACA8738702KCNJ2c.225G>A (p.Thr75=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175264G>CCA501700370KCNJ2c.225G>C (p.Thr75=)
17g.70175264G=CA2272996496KCNJ2c.225G= (p.Thr75=)
17g.70175264G>TCA8738703KCNJ2c.225G>T (p.Thr75=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175265T>ACA400860139KCNJ2c.226T>A (p.Cys76Ser)
17g.70175265T>CCA400860140KCNJ2c.226T>C (p.Cys76Arg)
ClinVar
17g.70175265T>GCA302023KCNJ2c.226T>G (p.Cys76Gly)
ClinVar dbSNP
17g.70175265T=CA2272996497KCNJ2c.226T= (p.Cys76=)
17g.70175266G>ACA400860143KCNJ2c.227G>A (p.Cys76Tyr)
17g.70175266G>CCA400860142KCNJ2c.227G>C (p.Cys76Ser)
COSMIC
17g.70175266G>TCA400860141KCNJ2c.227G>T (p.Cys76Phe)
17g.70175267T>ACA400860144KCNJ2c.228T>A (p.Cys76Ter)
17g.70175267T>CCA501700374KCNJ2c.228T>C (p.Cys76=)
17g.70175267T>GCA400860145KCNJ2c.228T>G (p.Cys76Trp)
17g.70175268G>ACA400860146KCNJ2c.229G>A (p.Val77Met)
17g.70175268G>CCA400860147KCNJ2c.229G>C (p.Val77Leu)
17g.70175268G>TCA400860148KCNJ2c.229G>T (p.Val77Leu)
17g.70175269T>ACA400860149KCNJ2c.230T>A (p.Val77Glu)
17g.70175269T>CCA400860150KCNJ2c.230T>C (p.Val77Ala)
17g.70175269T>GCA400860151KCNJ2c.230T>G (p.Val77Gly)
17g.70175270G>ACA8738704KCNJ2c.231G>A (p.Val77=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175270G>CCA501700382KCNJ2c.231G>C (p.Val77=)
gnomAD v4
17g.70175270G=CA2272996498KCNJ2c.231G= (p.Val77=)
17g.70175270G>TCA501700381KCNJ2c.231G>T (p.Val77=)
17g.70175271G>ACA400860152KCNJ2c.232G>A (p.Asp78Asn)
ClinVar
17g.70175271G>CCA400860153KCNJ2c.232G>C (p.Asp78His)
ClinVar dbSNP
17g.70175271G=CA2272996499KCNJ2c.232G= (p.Asp78=)
17g.70175271G>TCA329651KCNJ2c.232G>T (p.Asp78Tyr)
ClinVar dbSNP
17g.70175272A=CA2272996500KCNJ2c.233A= (p.Asp78=)
17g.70175272A>CCA400860155KCNJ2c.233A>C (p.Asp78Ala)
17g.70175272A>GCA329654KCNJ2c.233A>G (p.Asp78Gly)
ClinVar dbSNP
17g.70175272A>TCA400860154KCNJ2c.233A>T (p.Asp78Val)
gnomAD v4
17g.70175273C>ACA400860156KCNJ2c.234C>A (p.Asp78Glu)
17g.70175273C=CA2272996501KCNJ2c.234C= (p.Asp78=)
17g.70175273C>GCA400860157KCNJ2c.234C>G (p.Asp78Glu)
17g.70175273C>TCA501700391KCNJ2c.234C>T (p.Asp78=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175274A>CCA400860158KCNJ2c.235A>C (p.Ile79Leu)
17g.70175274A>GCA400860159KCNJ2c.235A>G (p.Ile79Val)
ClinVar
17g.70175274A>TCA400860160KCNJ2c.235A>T (p.Ile79Phe)
17g.70175275T>ACA400860161KCNJ2c.236T>A (p.Ile79Asn)
17g.70175275T>CCA302026KCNJ2c.236T>C (p.Ile79Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175275T>GCA400860162KCNJ2c.236T>G (p.Ile79Ser)
17g.70175275T=CA2272996502KCNJ2c.236T= (p.Ile79=)
17g.70175276T>ACA501700395KCNJ2c.237T>A (p.Ile79=)
17g.70175276T>CCA501700396KCNJ2c.237T>C (p.Ile79=)
17g.70175276T>GCA400860163KCNJ2c.237T>G (p.Ile79Met)
17g.70175277C>ACA400860164KCNJ2c.238C>A (p.Arg80Ser)
gnomAD v4
17g.70175277C=CA2272996503KCNJ2c.238C= (p.Arg80=)
17g.70175277C>GCA400860165KCNJ2c.238C>G (p.Arg80Gly)
17g.70175277C>TCA400860166KCNJ2c.238C>T (p.Arg80Cys)
ClinVar dbSNP
17g.70175278G>ACA400860168KCNJ2c.239G>A (p.Arg80His)
ClinVar dbSNP gnomAD v4 COSMIC
17g.70175278G>CCA400860169KCNJ2c.239G>C (p.Arg80Pro)
17g.70175278G>TCA400860167KCNJ2c.239G>T (p.Arg80Leu)
17g.70175279C>ACA501700402KCNJ2c.240C>A (p.Arg80=)
gnomAD v4
17g.70175279C>GCA501700403KCNJ2c.240C>G (p.Arg80=)
gnomAD v4
17g.70175279C>TCA501700404KCNJ2c.240C>T (p.Arg80=)
17g.70175280T>ACA400860170KCNJ2c.241T>A (p.Trp81Arg)
17g.70175280T>CCA400860171KCNJ2c.241T>C (p.Trp81Arg)
17g.70175280T>GCA400860172KCNJ2c.241T>G (p.Trp81Gly)
17g.70175281G>ACA400860173KCNJ2c.242G>A (p.Trp81Ter)
17g.70175281G>CCA400860174KCNJ2c.242G>C (p.Trp81Ser)
COSMIC
17g.70175281G>TCA400860175KCNJ2c.242G>T (p.Trp81Leu)
17g.70175282G>ACA400860178KCNJ2c.243G>A (p.Trp81Ter)
17g.70175282G>CCA400860176KCNJ2c.243G>C (p.Trp81Cys)
17g.70175282G>TCA400860177KCNJ2c.243G>T (p.Trp81Cys)
17g.70175283C>ACA501700409KCNJ2c.244C>A (p.Arg82=)
ClinVar
17g.70175283C=CA2272996504KCNJ2c.244C= (p.Arg82=)
17g.70175283C>GCA400860179KCNJ2c.244C>G (p.Arg82Gly)
17g.70175283C>TCA145013KCNJ2c.244C>T (p.Arg82Trp)
ClinVar dbSNP gnomAD v4
17g.70175284G>ACA329657KCNJ2c.245G>A (p.Arg82Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175284G>CCA400860180KCNJ2c.245G>C (p.Arg82Pro)
17g.70175284G=CA2272996505KCNJ2c.245G= (p.Arg82=)
17g.70175284G>TCA400860181KCNJ2c.245G>T (p.Arg82Leu)
17g.70175285G>ACA501700412KCNJ2c.246G>A (p.Arg82=)
ClinVar
17g.70175285G>CCA501700413KCNJ2c.246G>C (p.Arg82=)
17g.70175285G>TCA501700416KCNJ2c.246G>T (p.Arg82=)
gnomAD v4
17g.70175286T>ACA400860184KCNJ2c.247T>A (p.Trp83Arg)
17g.70175286T>CCA400860183KCNJ2c.247T>C (p.Trp83Arg)
17g.70175286T>GCA400860182KCNJ2c.247T>G (p.Trp83Gly)
17g.70175287G>ACA400860185KCNJ2c.248G>A (p.Trp83Ter)
17g.70175287G>CCA400860187KCNJ2c.248G>C (p.Trp83Ser)
17g.70175287G>TCA400860186KCNJ2c.248G>T (p.Trp83Leu)
17g.70175288G>ACA400860188KCNJ2c.249G>A (p.Trp83Ter)
17g.70175288G>CCA400860189KCNJ2c.249G>C (p.Trp83Cys)
17g.70175288G>TCA400860190KCNJ2c.249G>T (p.Trp83Cys)
17g.70175289A>CCA400860191KCNJ2c.250A>C (p.Met84Leu)
17g.70175289A>GCA400860192KCNJ2c.250A>G (p.Met84Val)
17g.70175289A>TCA400860193KCNJ2c.250A>T (p.Met84Leu)
17g.70175290T>ACA400860194KCNJ2c.251T>A (p.Met84Lys)
17g.70175290T>CCA400860195KCNJ2c.251T>C (p.Met84Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175290T>GCA400860196KCNJ2c.251T>G (p.Met84Arg)
17g.70175290T=CA2272996506KCNJ2c.251T= (p.Met84=)
17g.70175291G>ACA400860197KCNJ2c.252G>A (p.Met84Ile)
ClinVar
17g.70175291G>CCA400860198KCNJ2c.252G>C (p.Met84Ile)
17g.70175291G>TCA400860199KCNJ2c.252G>T (p.Met84Ile)
17g.70175292C>ACA400860200KCNJ2c.253C>A (p.Leu85Met)
17g.70175292C=CA2272996507KCNJ2c.253C= (p.Leu85=)
17g.70175292C>GCA293702907KCNJ2c.253C>G (p.Leu85Val)
dbSNP
17g.70175292C>TCA501700431KCNJ2c.253C>T (p.Leu85=)
17g.70175293T>ACA400860201KCNJ2c.254T>A (p.Leu85Gln)
17g.70175293T>CCA400860202KCNJ2c.254T>C (p.Leu85Pro)
17g.70175293T>GCA400860203KCNJ2c.254T>G (p.Leu85Arg)
17g.70175294G>ACA501700435KCNJ2c.255G>A (p.Leu85=)
17g.70175294G>CCA501700436KCNJ2c.255G>C (p.Leu85=)
17g.70175294G>TCA501700437KCNJ2c.255G>T (p.Leu85=)
17g.70175295G>ACA400860204KCNJ2c.256G>A (p.Val86Ile)
ClinVar COSMIC
17g.70175295G>CCA400860205KCNJ2c.256G>C (p.Val86Leu)
17g.70175295G=CA2272996508KCNJ2c.256G= (p.Val86=)
17g.70175295G>TCA302029KCNJ2c.256G>T (p.Val86Phe)
ClinVar dbSNP
17g.70175296T>ACA400860206KCNJ2c.257T>A (p.Val86Asp)
17g.70175296T>CCA400860207KCNJ2c.257T>C (p.Val86Ala)
17g.70175296T>GCA400860208KCNJ2c.257T>G (p.Val86Gly)
17g.70175297T>ACA501700444KCNJ2c.258T>A (p.Val86=)
17g.70175297T>CCA501700445KCNJ2c.258T>C (p.Val86=)
17g.70175297T>GCA501700446KCNJ2c.258T>G (p.Val86=)
17g.70175298A=CA2272996509KCNJ2c.259A= (p.Ile87=)
17g.70175298A>CCA400860209KCNJ2c.259A>C (p.Ile87Leu)
17g.70175298A>GCA8738705KCNJ2c.259A>G (p.Ile87Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175298A>TCA400860210KCNJ2c.259A>T (p.Ile87Phe)
17g.70175299T>ACA400860213KCNJ2c.260T>A (p.Ile87Asn)
17g.70175299T>CCA400860212KCNJ2c.260T>C (p.Ile87Thr)
17g.70175299T>GCA400860211KCNJ2c.260T>G (p.Ile87Ser)
17g.70175300C>ACA501700451KCNJ2c.261C>A (p.Ile87=)
17g.70175300C=CA2272996510KCNJ2c.261C= (p.Ile87=)
17g.70175300C>GCA400860214KCNJ2c.261C>G (p.Ile87Met)
ClinVar
17g.70175300C>TCA501700455KCNJ2c.261C>T (p.Ile87=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175301T>ACA400860215KCNJ2c.262T>A (p.Phe88Ile)
17g.70175301T>CCA400860216KCNJ2c.262T>C (p.Phe88Leu)
17g.70175301T>GCA400860217KCNJ2c.262T>G (p.Phe88Val)
17g.70175302T>ACA400860218KCNJ2c.263T>A (p.Phe88Tyr)
17g.70175302T>CCA400860219KCNJ2c.263T>C (p.Phe88Ser)
17g.70175302T>GCA400860220KCNJ2c.263T>G (p.Phe88Cys)
17g.70175303C>ACA400860221KCNJ2c.264C>A (p.Phe88Leu)
17g.70175303C>GCA400860222KCNJ2c.264C>G (p.Phe88Leu)
17g.70175303C>TCA501700462KCNJ2c.264C>T (p.Phe88=)
17g.70175304T>ACA400860223KCNJ2c.265T>A (p.Cys89Ser)
17g.70175304T>CCA400860224KCNJ2c.265T>C (p.Cys89Arg)
ClinVar
17g.70175304T>GCA400860225KCNJ2c.265T>G (p.Cys89Gly)
17g.70175305G>ACA400860227KCNJ2c.266G>A (p.Cys89Tyr)
17g.70175305G>CCA400860228KCNJ2c.266G>C (p.Cys89Ser)
17g.70175305G>TCA400860226KCNJ2c.266G>T (p.Cys89Phe)
17g.70175305_70175317delinsGCCTGGCTTTCGTCA2272996511KCNJ2c.266_278delinsGCCTGGCTTTCGT (p.Cys89=)
17g.70175306C>ACA400860229KCNJ2c.267C>A (p.Cys89Ter)
17g.70175306C=CA2272996512KCNJ2c.267C= (p.Cys89=)
17g.70175306C>GCA400860230KCNJ2c.267C>G (p.Cys89Trp)
17g.70175306C>TCA501700469KCNJ2c.267C>T (p.Cys89=)
ClinVar dbSNP gnomAD v4
17g.70175310_70175321delCA347345KCNJ2c.271_282del (p.Ala91_Leu94del)
ClinVar dbSNP
17g.70175307C>ACA400860231KCNJ2c.268C>A (p.Leu90Met)
17g.70175307C>GCA400860232KCNJ2c.268C>G (p.Leu90Val)
17g.70175307C>TCA501700472KCNJ2c.268C>T (p.Leu90=)
17g.70175308T>ACA400860235KCNJ2c.269T>A (p.Leu90Gln)
17g.70175308T>CCA400860234KCNJ2c.269T>C (p.Leu90Pro)
17g.70175308T>GCA400860233KCNJ2c.269T>G (p.Leu90Arg)
17g.70175309G>ACA501700476KCNJ2c.270G>A (p.Leu90=)
17g.70175309G>CCA501700477KCNJ2c.270G>C (p.Leu90=)
17g.70175309G>TCA501700479KCNJ2c.270G>T (p.Leu90=)
17g.70175310G>ACA400860236KCNJ2c.271G>A (p.Ala91Thr)
ClinVar dbSNP
17g.70175310G>CCA400860237KCNJ2c.271G>C (p.Ala91Pro)
17g.70175310G>TCA400860238KCNJ2c.271G>T (p.Ala91Ser)
COSMIC
17g.70175311C>ACA400860239KCNJ2c.272C>A (p.Ala91Asp)
17g.70175311C=CA2272996513KCNJ2c.272C= (p.Ala91=)
17g.70175311C>GCA400860240KCNJ2c.272C>G (p.Ala91Gly)
17g.70175311C>TCA8738706KCNJ2c.272C>T (p.Ala91Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175312T>ACA501700490KCNJ2c.273T>A (p.Ala91=)
gnomAD v4 COSMIC
17g.70175312T>CCA501700484KCNJ2c.273T>C (p.Ala91=)
17g.70175312T>GCA501700487KCNJ2c.273T>G (p.Ala91=)
COSMIC
17g.70175313T>ACA400860242KCNJ2c.274T>A (p.Phe92Ile)
17g.70175313T>CCA400860243KCNJ2c.274T>C (p.Phe92Leu)
17g.70175313T>GCA400860241KCNJ2c.274T>G (p.Phe92Val)
17g.70175314T>ACA400860245KCNJ2c.275T>A (p.Phe92Tyr)
17g.70175314T>CCA400860244KCNJ2c.275T>C (p.Phe92Ser)
17g.70175314T>GCA400860246KCNJ2c.275T>G (p.Phe92Cys)
17g.70175315C>ACA400860247KCNJ2c.276C>A (p.Phe92Leu)
17g.70175315C=CA2272996514KCNJ2c.276C= (p.Phe92=)
17g.70175315C>GCA400860248KCNJ2c.276C>G (p.Phe92Leu)
17g.70175315C>TCA8738707KCNJ2c.276C>T (p.Phe92=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.70175316G>ACA128946KCNJ2c.277G>A (p.Val93Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.70175316G>CCA400860249KCNJ2c.277G>C (p.Val93Leu)
gnomAD v4
17g.70175316G=CA2272996515KCNJ2c.277G= (p.Val93=)
17g.70175316G>TCA400860250KCNJ2c.277G>T (p.Val93Phe)
17g.70175317T>ACA400860251KCNJ2c.278T>A (p.Val93Asp)
17g.70175317T>CCA293702908KCNJ2c.278T>C (p.Val93Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175317T>GCA400860252KCNJ2c.278T>G (p.Val93Gly)
17g.70175317T=CA2272996516KCNJ2c.278T= (p.Val93=)
17g.70175318C>ACA501700504KCNJ2c.279C>A (p.Val93=)
gnomAD v4
17g.70175318C=CA2272996517KCNJ2c.279C= (p.Val93=)
17g.70175318C>GCA501700506KCNJ2c.279C>G (p.Val93=)
17g.70175318C>TCA8738708KCNJ2c.279C>T (p.Val93=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175319C>ACA400860253KCNJ2c.280C>A (p.Leu94Met)
17g.70175319C>GCA400860254KCNJ2c.280C>G (p.Leu94Val)
17g.70175319C>TCA501700507KCNJ2c.280C>T (p.Leu94=)
17g.70175320T>ACA400860255KCNJ2c.281T>A (p.Leu94Gln)
17g.70175320T>CCA400860256KCNJ2c.281T>C (p.Leu94Pro)
17g.70175320T>GCA400860257KCNJ2c.281T>G (p.Leu94Arg)
dbSNP
17g.70175320T=CA2272996518KCNJ2c.281T= (p.Leu94=)
17g.70175321G>ACA8738709KCNJ2c.282G>A (p.Leu94=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175321G>CCA501700515KCNJ2c.282G>C (p.Leu94=)
17g.70175321G=CA2272996519KCNJ2c.282G= (p.Leu94=)
17g.70175321G>TCA501700516KCNJ2c.282G>T (p.Leu94=)
17g.70175322T>ACA400860260KCNJ2c.283T>A (p.Ser95Thr)
dbSNP
17g.70175322T>CCA400860258KCNJ2c.283T>C (p.Ser95Pro)
17g.70175322T>GCA400860259KCNJ2c.283T>G (p.Ser95Ala)
17g.70175322T=CA2272996520KCNJ2c.283T= (p.Ser95=)
17g.70175323_70175334delCA2695226994KCNJ2c.284_295del (p.Ser95_Phe98del)
17g.70175323C>ACA400860261KCNJ2c.284C>A (p.Ser95Ter)
17g.70175323C>GCA400860262KCNJ2c.284C>G (p.Ser95Ter)
COSMIC
17g.70175323C>TCA400860263KCNJ2c.284C>T (p.Ser95Leu)
17g.70175324A=CA2272996521KCNJ2c.285A= (p.Ser95=)
17g.70175324A>CCA501700351KCNJ2c.285A>C (p.Ser95=)
gnomAD v4
17g.70175324A>GCA501700354KCNJ2c.285A>G (p.Ser95=)
17g.70175324A>TCA501700355KCNJ2c.285A>T (p.Ser95=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.70175324_70175335delCA2580095101KCNJ2c.285_296del (p.Trp96_Phe99del)
ClinVar dbSNP
17g.70175325T>ACA400860264KCNJ2c.286T>A (p.Trp96Arg)
17g.70175325T>CCA400860265KCNJ2c.286T>C (p.Trp96Arg)
17g.70175325T>GCA400860266KCNJ2c.286T>G (p.Trp96Gly)
17g.70175326G>ACA400860267KCNJ2c.287G>A (p.Trp96Ter)
gnomAD v4
17g.70175326G>CCA400860268KCNJ2c.287G>C (p.Trp96Ser)
17g.70175326G>TCA400860269KCNJ2c.287G>T (p.Trp96Leu)
17g.70175327G>ACA400860270KCNJ2c.288G>A (p.Trp96Ter)
17g.70175327G>CCA400860271KCNJ2c.288G>C (p.Trp96Cys)
17g.70175327G>TCA400860272KCNJ2c.288G>T (p.Trp96Cys)
17g.70175328C>ACA400860273KCNJ2c.289C>A (p.Leu97Met)
ClinVar dbSNP
17g.70175328C>GCA400860274KCNJ2c.289C>G (p.Leu97Val)
17g.70175328C>TCA501700359KCNJ2c.289C>T (p.Leu97=)
17g.70175328_70175331delinsCTGTCA2272996522KCNJ2c.289_292delinsCTGT (p.Leu97=)
17g.70175329T>ACA400860275KCNJ2c.290T>A (p.Leu97Gln)
17g.70175329T>CCA400860276KCNJ2c.290T>C (p.Leu97Pro)
ClinVar dbSNP COSMIC
17g.70175329T>GCA400860277KCNJ2c.290T>G (p.Leu97Arg)
17g.70175329T=CA2272996524KCNJ2c.290T= (p.Leu97=)
17g.70175330_70175332delCA2272996523KCNJ2c.291_293del (p.Phe98del)
ClinVar dbSNP gnomAD v4
17g.70175330G>ACA501700361KCNJ2c.291G>A (p.Leu97=)
17g.70175330G>CCA501700362KCNJ2c.291G>C (p.Leu97=)
17g.70175330G>TCA501700363KCNJ2c.291G>T (p.Leu97=)
17g.70175330_70175331insGGCA293702909KCNJ2c.291_292insGG (p.Phe98GlyfsTer9)
dbSNP
17g.70175331T>ACA400860278KCNJ2c.292T>A (p.Phe98Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175331T>CCA400860279KCNJ2c.292T>C (p.Phe98Leu)
17g.70175331T>GCA8738710KCNJ2c.292T>G (p.Phe98Val)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175331T=CA2272996525KCNJ2c.292T= (p.Phe98=)
17g.70175332T>ACA400860280KCNJ2c.293T>A (p.Phe98Tyr)
17g.70175332T>CCA400860281KCNJ2c.293T>C (p.Phe98Ser)
17g.70175332T>GCA400860282KCNJ2c.293T>G (p.Phe98Cys)
gnomAD v4
17g.70175333T>ACA400860283KCNJ2c.294T>A (p.Phe98Leu)
17g.70175333T>CCA501700368KCNJ2c.294T>C (p.Phe98=)
gnomAD v4
17g.70175333T>GCA400860284KCNJ2c.294T>G (p.Phe98Leu)
17g.70175334T>ACA400860286KCNJ2c.295T>A (p.Phe99Ile)
17g.70175334T>CCA400860287KCNJ2c.295T>C (p.Phe99Leu)
17g.70175334T>GCA400860285KCNJ2c.295T>G (p.Phe99Val)
17g.70175335T>ACA400860288KCNJ2c.296T>A (p.Phe99Tyr)
17g.70175335T>CCA400860289KCNJ2c.296T>C (p.Phe99Ser)
17g.70175335T>GCA400860290KCNJ2c.296T>G (p.Phe99Cys)
17g.70175336T>ACA400860291KCNJ2c.297T>A (p.Phe99Leu)
17g.70175336T>CCA501700369KCNJ2c.297T>C (p.Phe99=)
ClinVar
17g.70175336T>GCA400860292KCNJ2c.297T>G (p.Phe99Leu)
17g.70175336_70175343delinsTGGCTGTGCA2272996526KCNJ2c.297_304delinsTGGCTGTG (p.Phe99=)
17g.70175337G>ACA400860295KCNJ2c.298G>A (p.Gly100Ser)
17g.70175337G>CCA400860293KCNJ2c.298G>C (p.Gly100Arg)
17g.70175337G>TCA400860294KCNJ2c.298G>T (p.Gly100Cys)
17g.70175337_70175343delCA293702910KCNJ2c.298_304del (p.Gly100CysfsTer4)
dbSNP
17g.70175338G>ACA400860296KCNJ2c.299G>A (p.Gly100Asp)
17g.70175338G>CCA400860297KCNJ2c.299G>C (p.Gly100Ala)
17g.70175338G=CA2272996527KCNJ2c.299G= (p.Gly100=)
17g.70175338G>TCA400860298KCNJ2c.299G>T (p.Gly100Val)
ClinVar dbSNP
17g.70175339C>ACA8738711KCNJ2c.300C>A (p.Gly100=)
dbSNP ExAC
17g.70175339C=CA2272996528KCNJ2c.300C= (p.Gly100=)
17g.70175339C>GCA501700373KCNJ2c.300C>G (p.Gly100=)
17g.70175339C>TCA501700372KCNJ2c.300C>T (p.Gly100=)
17g.70175340T>ACA400860299KCNJ2c.301T>A (p.Cys101Ser)
17g.70175340T>CCA145016KCNJ2c.301T>C (p.Cys101Arg)
ClinVar dbSNP
17g.70175340T>GCA400860300KCNJ2c.301T>G (p.Cys101Gly)
17g.70175340T=CA2272996529KCNJ2c.301T= (p.Cys101=)
17g.70175345_70175346delCA2639593662KCNJ2c.306_307del (p.Phe103LeufsTer?)
gnomAD v4
17g.70175341G>ACA400860301KCNJ2c.302G>A (p.Cys101Tyr)
gnomAD v4
17g.70175341G>CCA400860302KCNJ2c.302G>C (p.Cys101Ser)
17g.70175341G=CA2272996530KCNJ2c.302G= (p.Cys101=)
17g.70175341G>TCA8738712KCNJ2c.302G>T (p.Cys101Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175342T>ACA400860303KCNJ2c.303T>A (p.Cys101Ter)
17g.70175342T>CCA8738713KCNJ2c.303T>C (p.Cys101=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175342T>GCA400860304KCNJ2c.303T>G (p.Cys101Trp)
17g.70175342T=CA2272996531KCNJ2c.303T= (p.Cys101=)
17g.70175343G>ACA8738714KCNJ2c.304G>A (p.Val102Met)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175343G>CCA400860305KCNJ2c.304G>C (p.Val102Leu)
17g.70175343G=CA2272996532KCNJ2c.304G= (p.Val102=)
17g.70175343G>TCA400860306KCNJ2c.304G>T (p.Val102Leu)
COSMIC
17g.70175344T>ACA400860307KCNJ2c.305T>A (p.Val102Glu)
17g.70175344T>CCA400860308KCNJ2c.305T>C (p.Val102Ala)
17g.70175344T>GCA400860309KCNJ2c.305T>G (p.Val102Gly)
17g.70175345G>ACA501700384KCNJ2c.306G>A (p.Val102=)
gnomAD v4
17g.70175345G>CCA501700385KCNJ2c.306G>C (p.Val102=)
ClinVar dbSNP
17g.70175345G>TCA501700386KCNJ2c.306G>T (p.Val102=)
17g.70175346T>ACA400860310KCNJ2c.307T>A (p.Phe103Ile)
17g.70175346T>CCA400860311KCNJ2c.307T>C (p.Phe103Leu)
gnomAD v4
17g.70175346T>GCA400860312KCNJ2c.307T>G (p.Phe103Val)
17g.70175347T>ACA400860315KCNJ2c.308T>A (p.Phe103Tyr)
17g.70175347T>CCA400860313KCNJ2c.308T>C (p.Phe103Ser)
17g.70175347T>GCA400860314KCNJ2c.308T>G (p.Phe103Cys)
17g.70175348T>ACA400860316KCNJ2c.309T>A (p.Phe103Leu)
17g.70175348T>CCA501700390KCNJ2c.309T>C (p.Phe103=)
17g.70175348T>GCA400860317KCNJ2c.309T>G (p.Phe103Leu)
17g.70175349T>ACA400860318KCNJ2c.310T>A (p.Trp104Arg)
17g.70175349T>CCA400860319KCNJ2c.310T>C (p.Trp104Arg)
17g.70175349T>GCA400860320KCNJ2c.310T>G (p.Trp104Gly)
17g.70175350G>ACA400860321KCNJ2c.311G>A (p.Trp104Ter)
17g.70175350G>CCA400860322KCNJ2c.311G>C (p.Trp104Ser)
17g.70175350G>TCA400860323KCNJ2c.311G>T (p.Trp104Leu)
17g.70175351G>ACA400860324KCNJ2c.312G>A (p.Trp104Ter)
17g.70175351G>CCA400860325KCNJ2c.312G>C (p.Trp104Cys)
17g.70175351G=CA2272996533KCNJ2c.312G= (p.Trp104=)
17g.70175351G>TCA293702911KCNJ2c.312G>T (p.Trp104Cys)
dbSNP
17g.70175352T>ACA8738715KCNJ2c.313T>A (p.Leu105Met)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175352T>CCA501700398KCNJ2c.313T>C (p.Leu105=)
gnomAD v4
17g.70175352T>GCA400860326KCNJ2c.313T>G (p.Leu105Val)
17g.70175352T=CA2272996534KCNJ2c.313T= (p.Leu105=)
17g.70175353T>ACA400860327KCNJ2c.314T>A (p.Leu105Ter)
17g.70175353T>CCA400860328KCNJ2c.314T>C (p.Leu105Ser)
17g.70175353T>GCA400860329KCNJ2c.314T>G (p.Leu105Trp)
gnomAD v4
17g.70175354G>ACA501700400KCNJ2c.315G>A (p.Leu105=)
gnomAD v4
17g.70175354G>CCA400860330KCNJ2c.315G>C (p.Leu105Phe)
17g.70175354G>TCA400860331KCNJ2c.315G>T (p.Leu105Phe)
17g.70175355A>CCA400860332KCNJ2c.316A>C (p.Ile106Leu)
17g.70175355A>GCA400860333KCNJ2c.316A>G (p.Ile106Val)
17g.70175355A>TCA400860334KCNJ2c.316A>T (p.Ile106Leu)
17g.70175356T>ACA400860335KCNJ2c.317T>A (p.Ile106Lys)
17g.70175356T>CCA400860336KCNJ2c.317T>C (p.Ile106Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.70175356T>GCA400860337KCNJ2c.317T>G (p.Ile106Arg)
17g.70175356T=CA2272996535KCNJ2c.317T= (p.Ile106=)
17g.70175357A>CCA501700406KCNJ2c.318A>C (p.Ile106=)
17g.70175357A>GCA400860338KCNJ2c.318A>G (p.Ile106Met)
17g.70175357A>TCA501700408KCNJ2c.318A>T (p.Ile106=)

Number of alleles fetched