| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.128839031T>C | CA230627354 | KCNJ1 | c.*94A>G (n.*94A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839031T= | CA2008285892 | KCNJ1 | c.*94A= (n.*94A=) | |
| 11 | g.128839032A>C | CA2575025042 | KCNJ1 | c.*93T>G (n.*93T>G) | gnomAD v4 |
| 11 | g.128839032A>G | CA2725211543 | KCNJ1 | c.*93T>C (n.*93T>C) | dbSNP |
| 11 | g.128839032A>T | CA2616771330 | KCNJ1 | c.*93T>A (n.*93T>A) | gnomAD v4 |
| 11 | g.128839033C= | CA2008285895 | KCNJ1 | c.*92G= (n.*92G=) | |
| 11 | g.128839033C>T | CA230627364 | KCNJ1 | c.*92G>A (n.*92G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839037C>A | CA2616771331 | KCNJ1 | c.*88G>T (n.*88G>T) | gnomAD v4 |
| 11 | g.128839037C= | CA2008285898 | KCNJ1 | c.*88G= (n.*88G=) | |
| 11 | g.128839037C>T | CA10637846 | KCNJ1 | c.*88G>A (n.*88G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839038G>A | CA230627375 | KCNJ1 | c.*87C>T (n.*87C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839038G= | CA2008285902 | KCNJ1 | c.*87C= (n.*87C=) | |
| 11 | g.128839038G>T | CA2575025043 | KCNJ1 | c.*87C>A (n.*87C>A) | gnomAD v4 |
| 11 | g.128839038_128839039insA | CA654603956 | KCNJ1 | c.*86_*87insT (n.*86_*87insT) | COSMIC COSMIC |
| 11 | g.128839039T>C | CA2008285904 | KCNJ1 | c.*86A>G (n.*86A>G) | dbSNP |
| 11 | g.128839039T= | CA2008285906 | KCNJ1 | c.*86A= (n.*86A=) | |
| 11 | g.128839040A= | CA2008285908 | KCNJ1 | c.*85T= (n.*85T=) | |
| 11 | g.128839040A>G | CA2008285910 | KCNJ1 | c.*85T>C (n.*85T>C) | dbSNP gnomAD v4 |
| 11 | g.128839041C>A | CA2616771332 | KCNJ1 | c.*84G>T (n.*84G>T) | gnomAD v4 |
| 11 | g.128839041C= | CA2008285911 | KCNJ1 | c.*84G= (n.*84G=) | |
| 11 | g.128839041C>T | CA230627402 | KCNJ1 | c.*84G>A (n.*84G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839042C>A | CA2575025044 | KCNJ1 | c.*83G>T (n.*83G>T) | gnomAD v4 |
| 11 | g.128839042C= | CA2008285914 | KCNJ1 | c.*83G= (n.*83G=) | |
| 11 | g.128839042C>T | CA230627415 | KCNJ1 | c.*83G>A (n.*83G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839043C>A | CA2616771333 | KCNJ1 | c.*82G>T (n.*82G>T) | gnomAD v4 |
| 11 | g.128839044C>A | CA2616771334 | KCNJ1 | c.*81G>T (n.*81G>T) | gnomAD v4 |
| 11 | g.128839045T>G | CA2616771335 | KCNJ1 | c.*80A>C (n.*80A>C) | gnomAD v4 |
| 11 | g.128839048del | CA2616771336 | KCNJ1 | c.*79del (n.*79del) | gnomAD v4 |
| 11 | g.128839047A>C | CA2794083151 | KCNJ1 | c.*78T>G (n.*78T>G) | |
| 11 | g.128839048A>G | CA2616771337 | KCNJ1 | c.*77T>C (n.*77T>C) | gnomAD v4 |
| 11 | g.128839049T>C | CA230627417 | KCNJ1 | c.*76A>G (n.*76A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839049T= | CA2008285916 | KCNJ1 | c.*76A= (n.*76A=) | |
| 11 | g.128839050T>C | CA2008285921 | KCNJ1 | c.*75A>G (n.*75A>G) | dbSNP gnomAD v4 |
| 11 | g.128839050T= | CA2008285919 | KCNJ1 | c.*75A= (n.*75A=) | |
| 11 | g.128839051G>T | CA2616771338 | KCNJ1 | c.*74C>A (n.*74C>A) | gnomAD v4 |
| 11 | g.128839052T>A | CA10638454 | KCNJ1 | c.*73A>T (n.*73A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839052T>C | CA2581055008 | KCNJ1 | c.*73A>G (n.*73A>G) | |
| 11 | g.128839052T>G | CA2581055007 | KCNJ1 | c.*73A>C (n.*73A>C) | |
| 11 | g.128839052T= | CA2008285924 | KCNJ1 | c.*73A= (n.*73A=) | |
| 11 | g.128839054G>T | CA2616771339 | KCNJ1 | c.*71C>A (n.*71C>A) | gnomAD v4 |
| 11 | g.128839055A= | CA2008285928 | KCNJ1 | c.*70T= (n.*70T=) | |
| 11 | g.128839055A>C | CA2008285929 | KCNJ1 | c.*70T>G (n.*70T>G) | dbSNP |
| 11 | g.128839055dup | CA654603957 | KCNJ1 | c.*70dup (n.*70dup) | COSMIC |
| 11 | g.128839056C>A | CA2008285932 | KCNJ1 | c.*69G>T (n.*69G>T) | dbSNP gnomAD v4 |
| 11 | g.128839056C= | CA2008285930 | KCNJ1 | c.*69G= (n.*69G=) | |
| 11 | g.128839056C>T | CA2616771340 | KCNJ1 | c.*69G>A (n.*69G>A) | gnomAD v4 |
| 11 | g.128839057T>G | CA2616771341 | KCNJ1 | c.*68A>C (n.*68A>C) | gnomAD v4 |
| 11 | g.128839058G>A | CA2616771343 | KCNJ1 | c.*67C>T (n.*67C>T) | gnomAD v4 |
| 11 | g.128839058G>T | CA2616771342 | KCNJ1 | c.*67C>A (n.*67C>A) | gnomAD v4 |
| 11 | g.128839059C>A | CA2616771344 | KCNJ1 | c.*66G>T (n.*66G>T) | gnomAD v4 |
| 11 | g.128839059C= | CA2008285933 | KCNJ1 | c.*66G= (n.*66G=) | |
| 11 | g.128839059C>T | CA230627427 | KCNJ1 | c.*66G>A (n.*66G>A) | dbSNP gnomAD v4 |
| 11 | g.128839062C>T | CA2616771345 | KCNJ1 | c.*63G>A (n.*63G>A) | gnomAD v4 |
| 11 | g.128839063A= | CA2008285935 | KCNJ1 | c.*62T= (n.*62T=) | |
| 11 | g.128839063A>G | CA602585791 | KCNJ1 | c.*62T>C (n.*62T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839065A>T | CA2616771346 | KCNJ1 | c.*60T>A (n.*60T>A) | gnomAD v4 |
| 11 | g.128839067T>A | CA2616771347 | KCNJ1 | c.*58A>T (n.*58A>T) | gnomAD v4 |
| 11 | g.128839067T>C | CA2616771348 | KCNJ1 | c.*58A>G (n.*58A>G) | gnomAD v4 |
| 11 | g.128839068G>T | CA2616771349 | KCNJ1 | c.*57C>A (n.*57C>A) | gnomAD v4 |
| 11 | g.128839069C>A | CA2616771350 | KCNJ1 | c.*56G>T (n.*56G>T) | gnomAD v4 |
| 11 | g.128839069C= | CA2008285979 | KCNJ1 | c.*56G= (n.*56G=) | |
| 11 | g.128839069C>T | CA602585792 | KCNJ1 | c.*56G>A (n.*56G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839071T>C | CA2616771351 | KCNJ1 | c.*54A>G (n.*54A>G) | gnomAD v4 |
| 11 | g.128839072C>T | CA2794083152 | KCNJ1 | c.*53G>A (n.*53G>A) | |
| 11 | g.128839073T>C | CA230627433 | KCNJ1 | c.*52A>G (n.*52A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839073T= | CA2008285981 | KCNJ1 | c.*52A= (n.*52A=) | |
| 11 | g.128839074A= | CA2008285984 | KCNJ1 | c.*51T= (n.*51T=) | |
| 11 | g.128839074A>G | CA6357365 | KCNJ1 | c.*51T>C (n.*51T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839074A>T | CA2616771352 | KCNJ1 | c.*51T>A (n.*51T>A) | gnomAD v4 |
| 11 | g.128839075G>T | CA2616771353 | KCNJ1 | c.*50C>A (n.*50C>A) | gnomAD v4 |
| 11 | g.128839076G>A | CA2794083153 | KCNJ1 | c.*49C>T (n.*49C>T) | |
| 11 | g.128839076G>T | CA2616771354 | KCNJ1 | c.*49C>A (n.*49C>A) | gnomAD v4 |
| 11 | g.128839078A= | CA2008285985 | KCNJ1 | c.*47T= (n.*47T=) | |
| 11 | g.128839078A>G | CA6357366 | KCNJ1 | c.*47T>C (n.*47T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839079C>T | CA2616771356 | KCNJ1 | c.*46G>A (n.*46G>A) | gnomAD v4 |
| 11 | g.128839079dup | CA2616771355 | KCNJ1 | c.*46dup (n.*46dup) | gnomAD v4 |
| 11 | g.128839081A>C | CA2616771357 | KCNJ1 | c.*44T>G (n.*44T>G) | gnomAD v4 |
| 11 | g.128839082G>A | CA2616771358 | KCNJ1 | c.*43C>T (n.*43C>T) | gnomAD v4 |
| 11 | g.128839083G>A | CA2008285988 | KCNJ1 | c.*42C>T (n.*42C>T) | dbSNP gnomAD v4 |
| 11 | g.128839083G= | CA2008285986 | KCNJ1 | c.*42C= (n.*42C=) | |
| 11 | g.128839084A= | CA2008285990 | KCNJ1 | c.*41T= (n.*41T=) | |
| 11 | g.128839084A>C | CA2008285991 | KCNJ1 | c.*41T>G (n.*41T>G) | dbSNP |
| 11 | g.128839084A>G | CA6357367 | KCNJ1 | c.*41T>C (n.*41T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839085G>A | CA2616771359 | KCNJ1 | c.*40C>T (n.*40C>T) | gnomAD v4 |
| 11 | g.128839085G>C | CA2008285995 | KCNJ1 | c.*40C>G (n.*40C>G) | dbSNP gnomAD v4 |
| 11 | g.128839085G= | CA2008285993 | KCNJ1 | c.*40C= (n.*40C=) | |
| 11 | g.128839085G>T | CA2008285994 | KCNJ1 | c.*40C>A (n.*40C>A) | dbSNP gnomAD v4 |
| 11 | g.128839086C>A | CA6357368 | KCNJ1 | c.*39G>T (n.*39G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839086C= | CA2008285998 | KCNJ1 | c.*39G= (n.*39G=) | |
| 11 | g.128839086C>T | CA6357369 | KCNJ1 | c.*39G>A (n.*39G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839087T>C | CA2616771360 | KCNJ1 | c.*38A>G (n.*38A>G) | gnomAD v4 |
| 11 | g.128839089dup | CA2616771361 | KCNJ1 | c.*38dup (n.*38dup) | gnomAD v4 |
| 11 | g.128839090A>G | CA2616771362 | KCNJ1 | c.*35T>C (n.*35T>C) | gnomAD v4 |
| 11 | g.128839090A>T | CA2616771363 | KCNJ1 | c.*35T>A (n.*35T>A) | gnomAD v4 |
| 11 | g.128839091G>A | CA2616771364 | KCNJ1 | c.*34C>T (n.*34C>T) | gnomAD v4 |
| 11 | g.128839091G>C | CA2575025045 | KCNJ1 | c.*34C>G (n.*34C>G) | |
| 11 | g.128839091G>T | CA2616771365 | KCNJ1 | c.*34C>A (n.*34C>A) | gnomAD v4 |
| 11 | g.128839093G>A | CA602585794 | KCNJ1 | c.*32C>T (n.*32C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839093G>C | CA2616771366 | KCNJ1 | c.*32C>G (n.*32C>G) | gnomAD v4 |
| 11 | g.128839093G= | CA2008286002 | KCNJ1 | c.*32C= (n.*32C=) | |
| 11 | g.128839093G>T | CA2616771367 | KCNJ1 | c.*32C>A (n.*32C>A) | gnomAD v4 |
| 11 | g.128839095C= | CA2008286004 | KCNJ1 | c.*30G= (n.*30G=) | |
| 11 | g.128839095C>T | CA602585795 | KCNJ1 | c.*30G>A (n.*30G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839096T>A | CA6357370 | KCNJ1 | c.*29A>T (n.*29A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839096T= | CA2008286006 | KCNJ1 | c.*29A= (n.*29A=) | |
| 11 | g.128839097_128839098del | CA2575025046 | KCNJ1 | c.*28_*29del (n.*28_*29del) | |
| 11 | g.128839097T>C | CA602585797 | KCNJ1 | c.*28A>G (n.*28A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839097T= | CA2008286009 | KCNJ1 | c.*28A= (n.*28A=) | |
| 11 | g.128839099G>T | CA2616771368 | KCNJ1 | c.*26C>A (n.*26C>A) | gnomAD v4 |
| 11 | g.128839100C>T | CA2616771369 | KCNJ1 | c.*25G>A (n.*25G>A) | gnomAD v4 |
| 11 | g.128839101T>C | CA230627478 | KCNJ1 | c.*24A>G (n.*24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839101T= | CA2008286012 | KCNJ1 | c.*24A= (n.*24A=) | |
| 11 | g.128839103T>C | CA602585798 | KCNJ1 | c.*22A>G (n.*22A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839103T= | CA2008286015 | KCNJ1 | c.*22A= (n.*22A=) | |
| 11 | g.128839105C= | CA2008286017 | KCNJ1 | c.*20G= (n.*20G=) | |
| 11 | g.128839105C>G | CA602585799 | KCNJ1 | c.*20G>C (n.*20G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839105C>T | CA2527789655 | KCNJ1 | c.*20G>A (n.*20G>A) | gnomAD v4 |
| 11 | g.128839107C>A | CA602585800 | KCNJ1 | c.*18G>T (n.*18G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839107C= | CA2008286020 | KCNJ1 | c.*18G= (n.*18G=) | |
| 11 | g.128839108C= | CA2008286022 | KCNJ1 | c.*17G= (n.*17G=) | |
| 11 | g.128839108C>T | CA602585801 | KCNJ1 | c.*17G>A (n.*17G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839109C= | CA2008286024 | KCNJ1 | c.*16G= (n.*16G=) | |
| 11 | g.128839109C>T | CA6357371 | KCNJ1 | c.*16G>A (n.*16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839110G>A | CA6357372 | KCNJ1 | c.*15C>T (n.*15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839110G= | CA2008286029 | KCNJ1 | c.*15C= (n.*15C=) | |
| 11 | g.128839110G>T | CA477702500 | KCNJ1 | c.*15C>A (n.*15C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839113G>T | CA2616771370 | KCNJ1 | c.*12C>A (n.*12C>A) | gnomAD v4 |
| 11 | g.128839115A>G | CA2616771371 | KCNJ1 | c.*10T>C (n.*10T>C) | gnomAD v4 |
| 11 | g.128839116A= | CA2008286032 | KCNJ1 | c.*9T= (n.*9T=) | |
| 11 | g.128839116A>G | CA6357373 | KCNJ1 | c.*9T>C (n.*9T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839118del | CA2616771372 | KCNJ1 | c.*7del (n.*7del) | gnomAD v4 |
| 11 | g.128839118G>A | CA6357374 | KCNJ1 | c.*7C>T (n.*7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839118G= | CA2008286034 | KCNJ1 | c.*7C= (n.*7C=) | |
| 11 | g.128839118G>T | CA673265635 | KCNJ1 | c.*7C>A (n.*7C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839120C= | CA2008286036 | KCNJ1 | c.*5G= (n.*5G=) | |
| 11 | g.128839120C>T | CA216031 | KCNJ1 | c.*5G>A (n.*5G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.128839121A>G | CA2794083154 | KCNJ1 | c.*4T>C (n.*4T>C) | |
| 11 | g.128839123T>A | CA673265639 | KCNJ1 | c.*2A>T (n.*2A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839123T>C | CA2794083155 | KCNJ1 | c.*2A>G (n.*2A>G) | |
| 11 | g.128839123T>G | CA2616771373 | KCNJ1 | c.*2A>C (n.*2A>C) | gnomAD v4 |
| 11 | g.128839123T= | CA2008286038 | KCNJ1 | c.*2A= (n.*2A=) | |
| 11 | g.128839124G>A | CA6357376 | KCNJ1 | c.*1C>T (n.*1C>T) | dbSNP ExAC gnomAD v2 |
| 11 | g.128839124G>C | CA6357375 | KCNJ1 | c.*1C>G (n.*1C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839124G= | CA2008286040 | KCNJ1 | c.*1C= (n.*1C=) | |
| 11 | g.128839125T>A | CA383242504 | KCNJ1 | c.1119A>T (p.Ter373Tyr) c.1176A>T (p.Ter392Tyr) c.1170A>T (p.Ter390Tyr) | |
| 11 | g.128839125T>C | CA477702503 | KCNJ1 | c.1119A>G (p.Ter373=) c.1176A>G (p.Ter392=) c.1170A>G (p.Ter390=) | |
| 11 | g.128839125T>G | CA383242506 | KCNJ1 | c.1119A>C (p.Ter373Tyr) c.1176A>C (p.Ter392Tyr) c.1170A>C (p.Ter390Tyr) | |
| 11 | g.128839125_128839126insAT | CA2531670958 | KCNJ1 | c.1119_*1insTA (n.1119_*1insTA) c.1176_*1insTA (n.1176_*1insTA) c.1170_*1insTA (n.1170_*1insTA) | |
| 11 | g.128839126T>A | CA383242508 | KCNJ1 | c.1118A>T (p.Ter373Leu) c.1175A>T (p.Ter392Leu) c.1169A>T (p.Ter390Leu) | |
| 11 | g.128839126T>C | CA477702506 | KCNJ1 | c.1118A>G (p.Ter373=) c.1175A>G (p.Ter392=) c.1169A>G (p.Ter390=) | |
| 11 | g.128839126T>G | CA383242513 | KCNJ1 | c.1118A>C (p.Ter373Ser) c.1175A>C (p.Ter392Ser) c.1169A>C (p.Ter390Ser) | |
| 11 | g.128839127A>C | CA383242516 | KCNJ1 | c.1117T>G (p.Ter373Glu) c.1174T>G (p.Ter392Glu) c.1168T>G (p.Ter390Glu) | |
| 11 | g.128839127A>G | CA383242520 | KCNJ1 | c.1117T>C (p.Ter373Gln) c.1174T>C (p.Ter392Gln) c.1168T>C (p.Ter390Gln) | gnomAD v4 |
| 11 | g.128839127A>T | CA383242518 | KCNJ1 | c.1117T>A (p.Ter373Lys) c.1174T>A (p.Ter392Lys) c.1168T>A (p.Ter390Lys) | |
| 11 | g.128839127_128839128insGAACGTG | CA2555380401 | KCNJ1 | c.1116_1117insCACGTTC (p.Ter373HisextTer11) c.1173_1174insCACGTTC (p.Ter392HisextTer11) c.1167_1168insCACGTTC (p.Ter390HisextTer11) | |
| 11 | g.128839128C>A | CA383242522 | KCNJ1 | c.1116G>T (p.Met372Ile) c.1173G>T (p.Met391Ile) c.1167G>T (p.Met389Ile) | |
| 11 | g.128839128C= | CA2008286046 | KCNJ1 | c.1116G= (p.Met372=) c.1173G= (p.Met391=) c.1167G= (p.Met389=) | |
| 11 | g.128839128C>G | CA383242525 | KCNJ1 | c.1116G>C (p.Met372Ile) c.1173G>C (p.Met391Ile) c.1167G>C (p.Met389Ile) | gnomAD v4 |
| 11 | g.128839128C>T | CA6357377 | KCNJ1 | c.1116G>A (p.Met372Ile) c.1173G>A (p.Met391Ile) c.1167G>A (p.Met389Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839129A>C | CA383242527 | KCNJ1 | c.1115T>G (p.Met372Arg) c.1172T>G (p.Met391Arg) c.1166T>G (p.Met389Arg) | |
| 11 | g.128839129A>G | CA383242530 | KCNJ1 | c.1115T>C (p.Met372Thr) c.1172T>C (p.Met391Thr) c.1166T>C (p.Met389Thr) | gnomAD v4 |
| 11 | g.128839129A>T | CA383242531 | KCNJ1 | c.1115T>A (p.Met372Lys) c.1172T>A (p.Met391Lys) c.1166T>A (p.Met389Lys) | |
| 11 | g.128839130T>A | CA383242534 | KCNJ1 | c.1114A>T (p.Met372Leu) c.1171A>T (p.Met391Leu) c.1165A>T (p.Met389Leu) | |
| 11 | g.128839130T>C | CA383242536 | KCNJ1 | c.1114A>G (p.Met372Val) c.1171A>G (p.Met391Val) c.1165A>G (p.Met389Val) | gnomAD v4 |
| 11 | g.128839130T>G | CA383242538 | KCNJ1 | c.1114A>C (p.Met372Leu) c.1171A>C (p.Met391Leu) c.1165A>C (p.Met389Leu) | |
| 11 | g.128839131T>A | CA383242542 | KCNJ1 | c.1113A>T (p.Lys371Asn) c.1170A>T (p.Lys390Asn) c.1164A>T (p.Lys388Asn) | gnomAD v4 |
| 11 | g.128839131T>C | CA477702514 | KCNJ1 | c.1113A>G (p.Lys371=) c.1170A>G (p.Lys390=) c.1164A>G (p.Lys388=) | |
| 11 | g.128839131T>G | CA383242540 | KCNJ1 | c.1113A>C (p.Lys371Asn) c.1170A>C (p.Lys390Asn) c.1164A>C (p.Lys388Asn) |