Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150946748_150946906del | CA2685600359 | KCNH2 | n.4141_4163+136del c.3308_3330+136del c.2288_2310+136del c.3008_3030+136del c.3158_3180+136del c.3131_3153+136del | gnomAD v4 |
7 | g.150946814_150947018del | CA2697557661 | KCNH2 | n.4027_4163+68del c.3194_3330+68del c.2174_2310+68del c.2894_3030+68del c.3044_3180+68del c.3017_3153+68del | ClinVar |
7 | g.150946857G>A | CA2579062508 | KCNH2 | n.4163+20C>T c.3330+20C>T (n.3330+20C>T) c.2310+20C>T (n.2310+20C>T) c.3030+20C>T (n.3030+20C>T) c.3180+20C>T (n.3180+20C>T) c.3153+20C>T (n.3153+20C>T) | gnomAD v4 |
7 | g.150946857G= | CA1752427267 | KCNH2 | n.4163+20C= c.3330+20C= (n.3330+20C=) c.2310+20C= (n.2310+20C=) c.3030+20C= (n.3030+20C=) c.3180+20C= (n.3180+20C=) c.3153+20C= (n.3153+20C=) | |
7 | g.150946859dup | CA1108704487 | KCNH2 | n.4163+19dup c.3330+19dup (n.3330+19dup) c.2310+19dup (n.2310+19dup) c.3030+19dup (n.3030+19dup) c.3180+19dup (n.3180+19dup) c.3153+19dup (n.3153+19dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150946860G>A | CA169071143 | KCNH2 | n.4163+17C>T c.3330+17C>T (n.3330+17C>T) c.2310+17C>T (n.2310+17C>T) c.3030+17C>T (n.3030+17C>T) c.3180+17C>T (n.3180+17C>T) c.3153+17C>T (n.3153+17C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150946860G= | CA1752427269 | KCNH2 | n.4163+17C= c.3330+17C= (n.3330+17C=) c.2310+17C= (n.2310+17C=) c.3030+17C= (n.3030+17C=) c.3180+17C= (n.3180+17C=) c.3153+17C= (n.3153+17C=) | |
7 | g.150946860G>T | CA2685600504 | KCNH2 | n.4163+17C>A c.3330+17C>A (n.3330+17C>A) c.2310+17C>A (n.2310+17C>A) c.3030+17C>A (n.3030+17C>A) c.3180+17C>A (n.3180+17C>A) c.3153+17C>A (n.3153+17C>A) | gnomAD v4 |
7 | g.150946861C>A | CA2685600505 | KCNH2 | n.4163+16G>T c.3330+16G>T (n.3330+16G>T) c.2310+16G>T (n.2310+16G>T) c.3030+16G>T (n.3030+16G>T) c.3180+16G>T (n.3180+16G>T) c.3153+16G>T (n.3153+16G>T) | gnomAD v4 |
7 | g.150946861C= | CA1752427271 | KCNH2 | n.4163+16G= c.3330+16G= (n.3330+16G=) c.2310+16G= (n.2310+16G=) c.3030+16G= (n.3030+16G=) c.3180+16G= (n.3180+16G=) c.3153+16G= (n.3153+16G=) | |
7 | g.150946861C>G | CA038458 | KCNH2 | n.4163+16G>C c.3330+16G>C (n.3330+16G>C) c.2310+16G>C (n.2310+16G>C) c.3030+16G>C (n.3030+16G>C) c.3180+16G>C (n.3180+16G>C) c.3153+16G>C (n.3153+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946861C>T | CA2685600506 | KCNH2 | n.4163+16G>A c.3330+16G>A (n.3330+16G>A) c.2310+16G>A (n.2310+16G>A) c.3030+16G>A (n.3030+16G>A) c.3180+16G>A (n.3180+16G>A) c.3153+16G>A (n.3153+16G>A) | gnomAD v4 |
7 | g.150946862A= | CA1752427273 | KCNH2 | n.4163+15T= c.3330+15T= (n.3330+15T=) c.2310+15T= (n.2310+15T=) c.3030+15T= (n.3030+15T=) c.3180+15T= (n.3180+15T=) c.3153+15T= (n.3153+15T=) | |
7 | g.150946862A>C | CA579075286 | KCNH2 | n.4163+15T>G c.3330+15T>G (n.3330+15T>G) c.2310+15T>G (n.2310+15T>G) c.3030+15T>G (n.3030+15T>G) c.3180+15T>G (n.3180+15T>G) c.3153+15T>G (n.3153+15T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150946862A>G | CA2685600507 | KCNH2 | n.4163+15T>C c.3330+15T>C (n.3330+15T>C) c.2310+15T>C (n.2310+15T>C) c.3030+15T>C (n.3030+15T>C) c.3180+15T>C (n.3180+15T>C) c.3153+15T>C (n.3153+15T>C) | gnomAD v4 |
7 | g.150946863G>A | CA2685600509 | KCNH2 | n.4163+14C>T c.3330+14C>T (n.3330+14C>T) c.2310+14C>T (n.2310+14C>T) c.3030+14C>T (n.3030+14C>T) c.3180+14C>T (n.3180+14C>T) c.3153+14C>T (n.3153+14C>T) | gnomAD v4 |
7 | g.150946863G>C | CA1752427275 | KCNH2 | n.4163+14C>G c.3330+14C>G (n.3330+14C>G) c.2310+14C>G (n.2310+14C>G) c.3030+14C>G (n.3030+14C>G) c.3180+14C>G (n.3180+14C>G) c.3153+14C>G (n.3153+14C>G) | dbSNP |
7 | g.150946863G= | CA1752427274 | KCNH2 | n.4163+14C= c.3330+14C= (n.3330+14C=) c.2310+14C= (n.2310+14C=) c.3030+14C= (n.3030+14C=) c.3180+14C= (n.3180+14C=) c.3153+14C= (n.3153+14C=) | |
7 | g.150946864G>A | CA2685600510 | KCNH2 | n.4163+13C>T c.3330+13C>T (n.3330+13C>T) c.2310+13C>T (n.2310+13C>T) c.3030+13C>T (n.3030+13C>T) c.3180+13C>T (n.3180+13C>T) c.3153+13C>T (n.3153+13C>T) | gnomAD v4 |
7 | g.150946865G>A | CA038442 | KCNH2 | n.4163+12C>T c.3330+12C>T (n.3330+12C>T) c.2310+12C>T (n.2310+12C>T) c.3030+12C>T (n.3030+12C>T) c.3180+12C>T (n.3180+12C>T) c.3153+12C>T (n.3153+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946865G= | CA1752427277 | KCNH2 | n.4163+12C= c.3330+12C= (n.3330+12C=) c.2310+12C= (n.2310+12C=) c.3030+12C= (n.3030+12C=) c.3180+12C= (n.3180+12C=) c.3153+12C= (n.3153+12C=) | |
7 | g.150946865G>T | CA2685600512 | KCNH2 | n.4163+12C>A c.3330+12C>A (n.3330+12C>A) c.2310+12C>A (n.2310+12C>A) c.3030+12C>A (n.3030+12C>A) c.3180+12C>A (n.3180+12C>A) c.3153+12C>A (n.3153+12C>A) | gnomAD v4 |
7 | g.150946866C>A | CA2685600513 | KCNH2 | n.4163+11G>T c.3330+11G>T (n.3330+11G>T) c.2310+11G>T (n.2310+11G>T) c.3030+11G>T (n.3030+11G>T) c.3180+11G>T (n.3180+11G>T) c.3153+11G>T (n.3153+11G>T) | gnomAD v4 |
7 | g.150946866C= | CA1752427282 | KCNH2 | n.4163+11G= c.3330+11G= (n.3330+11G=) c.2310+11G= (n.2310+11G=) c.3030+11G= (n.3030+11G=) c.3180+11G= (n.3180+11G=) c.3153+11G= (n.3153+11G=) | |
7 | g.150946866C>G | CA579075287 | KCNH2 | n.4163+11G>C c.3330+11G>C (n.3330+11G>C) c.2310+11G>C (n.2310+11G>C) c.3030+11G>C (n.3030+11G>C) c.3180+11G>C (n.3180+11G>C) c.3153+11G>C (n.3153+11G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150946866C>T | CA1752427280 | KCNH2 | n.4163+11G>A c.3330+11G>A (n.3330+11G>A) c.2310+11G>A (n.2310+11G>A) c.3030+11G>A (n.3030+11G>A) c.3180+11G>A (n.3180+11G>A) c.3153+11G>A (n.3153+11G>A) | dbSNP gnomAD v4 |
7 | g.150946867T>C | CA2685600515 | KCNH2 | n.4163+10A>G c.3330+10A>G (n.3330+10A>G) c.2310+10A>G (n.2310+10A>G) c.3030+10A>G (n.3030+10A>G) c.3180+10A>G (n.3180+10A>G) c.3153+10A>G (n.3153+10A>G) | ClinVar gnomAD v4 |
7 | g.150946867_150946870del | CA2685600514 | KCNH2 | n.4163+7_4163+10del c.3330+7_3330+10del (n.3330+7_3330+10del) c.2310+7_2310+10del (n.2310+7_2310+10del) c.3030+7_3030+10del (n.3030+7_3030+10del) c.3180+7_3180+10del (n.3180+7_3180+10del) c.3153+7_3153+10del (n.3153+7_3153+10del) | gnomAD v4 |
7 | g.150946868G>C | CA2685600516 | KCNH2 | n.4163+9C>G c.3330+9C>G (n.3330+9C>G) c.2310+9C>G (n.2310+9C>G) c.3030+9C>G (n.3030+9C>G) c.3180+9C>G (n.3180+9C>G) c.3153+9C>G (n.3153+9C>G) | gnomAD v4 |
7 | g.150946869G>A | CA2739279283 | KCNH2 | n.4163+8C>T c.3330+8C>T (n.3330+8C>T) c.2310+8C>T (n.2310+8C>T) c.3030+8C>T (n.3030+8C>T) c.3180+8C>T (n.3180+8C>T) c.3153+8C>T (n.3153+8C>T) | ClinVar |
7 | g.150946870A>G | CA2685600517 | KCNH2 | n.4163+7T>C c.3330+7T>C (n.3330+7T>C) c.2310+7T>C (n.2310+7T>C) c.3030+7T>C (n.3030+7T>C) c.3180+7T>C (n.3180+7T>C) c.3153+7T>C (n.3153+7T>C) | gnomAD v4 |
7 | g.150946871G>A | CA2685600518 | KCNH2 | n.4163+6C>T c.3330+6C>T (n.3330+6C>T) c.2310+6C>T (n.2310+6C>T) c.3030+6C>T (n.3030+6C>T) c.3180+6C>T (n.3180+6C>T) c.3153+6C>T (n.3153+6C>T) | gnomAD v4 |
7 | g.150946872C>A | CA2685600519 | KCNH2 | n.4163+5G>T c.3330+5G>T (n.3330+5G>T) c.2310+5G>T (n.2310+5G>T) c.3030+5G>T (n.3030+5G>T) c.3180+5G>T (n.3180+5G>T) c.3153+5G>T (n.3153+5G>T) | gnomAD v4 |
7 | g.150946874del | CA2579062509 | KCNH2 | n.4163+4del c.3330+4del (n.3330+4del) c.2310+4del (n.2310+4del) c.3030+4del (n.3030+4del) c.3180+4del (n.3180+4del) c.3153+4del (n.3153+4del) | |
7 | g.150946875A>C | CA369851857 | KCNH2 | n.4163+2T>G c.3330+2T>G (n.3330+2T>G) c.2310+2T>G (n.2310+2T>G) c.3030+2T>G (n.3030+2T>G) c.3180+2T>G (n.3180+2T>G) c.3153+2T>G (n.3153+2T>G) | |
7 | g.150946875A>G | CA369851858 | KCNH2 | n.4163+2T>C c.3330+2T>C (n.3330+2T>C) c.2310+2T>C (n.2310+2T>C) c.3030+2T>C (n.3030+2T>C) c.3180+2T>C (n.3180+2T>C) c.3153+2T>C (n.3153+2T>C) | |
7 | g.150946875A>T | CA369851860 | KCNH2 | n.4163+2T>A c.3330+2T>A (n.3330+2T>A) c.2310+2T>A (n.2310+2T>A) c.3030+2T>A (n.3030+2T>A) c.3180+2T>A (n.3180+2T>A) c.3153+2T>A (n.3153+2T>A) | |
7 | g.150946876C>A | CA369851866 | KCNH2 | n.4163+1G>T c.3330+1G>T (n.3330+1G>T) c.2310+1G>T (n.2310+1G>T) c.3030+1G>T (n.3030+1G>T) c.3180+1G>T (n.3180+1G>T) c.3153+1G>T (n.3153+1G>T) | |
7 | g.150946876C= | CA1752427287 | KCNH2 | n.4163+1G= c.3330+1G= (n.3330+1G=) c.2310+1G= (n.2310+1G=) c.3030+1G= (n.3030+1G=) c.3180+1G= (n.3180+1G=) c.3153+1G= (n.3153+1G=) | |
7 | g.150946876C>G | CA369851863 | KCNH2 | n.4163+1G>C c.3330+1G>C (n.3330+1G>C) c.2310+1G>C (n.2310+1G>C) c.3030+1G>C (n.3030+1G>C) c.3180+1G>C (n.3180+1G>C) c.3153+1G>C (n.3153+1G>C) | |
7 | g.150946876C>T | CA369851864 | KCNH2 | n.4163+1G>A c.3330+1G>A (n.3330+1G>A) c.2310+1G>A (n.2310+1G>A) c.3030+1G>A (n.3030+1G>A) c.3180+1G>A (n.3180+1G>A) c.3153+1G>A (n.3153+1G>A) | ClinVar dbSNP gnomAD v2 |
7 | g.150946877C>A | CA369851867 | KCNH2 | n.4163G>T c.3330G>T (p.Gln1110His) c.2310G>T (p.Gln770His) c.3030G>T (p.Gln1010His) c.3180G>T (p.Gln1060His) c.3153G>T (p.Gln1051His) | gnomAD v4 |
7 | g.150946877C>G | CA369851868 | KCNH2 | n.4163G>C c.3330G>C (p.Gln1110His) c.2310G>C (p.Gln770His) c.3030G>C (p.Gln1010His) c.3180G>C (p.Gln1060His) c.3153G>C (p.Gln1051His) | gnomAD v4 |
7 | g.150946877C>T | CA458644621 | KCNH2 | n.4163G>A c.3330G>A (p.Gln1110=) c.2310G>A (p.Gln770=) c.3030G>A (p.Gln1010=) c.3180G>A (p.Gln1060=) c.3153G>A (p.Gln1051=) | |
7 | g.150946878T>A | CA369851869 | KCNH2 | n.4162A>T c.3329A>T (p.Gln1110Leu) c.2309A>T (p.Gln770Leu) c.3029A>T (p.Gln1010Leu) c.3179A>T (p.Gln1060Leu) c.3152A>T (p.Gln1051Leu) | |
7 | g.150946878T>C | CA369851871 | KCNH2 | n.4162A>G c.3329A>G (p.Gln1110Arg) c.2309A>G (p.Gln770Arg) c.3029A>G (p.Gln1010Arg) c.3179A>G (p.Gln1060Arg) c.3152A>G (p.Gln1051Arg) | gnomAD v4 |
7 | g.150946878T>G | CA038431 | KCNH2 | n.4162A>C c.3329A>C (p.Gln1110Pro) c.2309A>C (p.Gln770Pro) c.3029A>C (p.Gln1010Pro) c.3179A>C (p.Gln1060Pro) c.3152A>C (p.Gln1051Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946878T= | CA1752427290 | KCNH2 | n.4162A= c.3329A= (p.Gln1110=) c.2309A= (p.Gln770=) c.3029A= (p.Gln1010=) c.3179A= (p.Gln1060=) c.3152A= (p.Gln1051=) | |
7 | g.150946879G>A | CA369851872 | KCNH2 | n.4161C>T c.3328C>T (p.Gln1110Ter) c.2308C>T (p.Gln770Ter) c.3028C>T (p.Gln1010Ter) c.3178C>T (p.Gln1060Ter) c.3151C>T (p.Gln1051Ter) | |
7 | g.150946879G>C | CA369851874 | KCNH2 | n.4161C>G c.3328C>G (p.Gln1110Glu) c.2308C>G (p.Gln770Glu) c.3028C>G (p.Gln1010Glu) c.3178C>G (p.Gln1060Glu) c.3151C>G (p.Gln1051Glu) | COSMIC COSMIC |
7 | g.150946879G>T | CA369851875 | KCNH2 | n.4161C>A c.3328C>A (p.Gln1110Lys) c.2308C>A (p.Gln770Lys) c.3028C>A (p.Gln1010Lys) c.3178C>A (p.Gln1060Lys) c.3151C>A (p.Gln1051Lys) | gnomAD v4 |
7 | g.150946880A>C | CA458644625 | KCNH2 | n.4160T>G c.3327T>G (p.Ser1109=) c.2307T>G (p.Ser769=) c.3027T>G (p.Ser1009=) c.3177T>G (p.Ser1059=) c.3150T>G (p.Ser1050=) | |
7 | g.150946880A>G | CA458644626 | KCNH2 | n.4160T>C c.3327T>C (p.Ser1109=) c.2307T>C (p.Ser769=) c.3027T>C (p.Ser1009=) c.3177T>C (p.Ser1059=) c.3150T>C (p.Ser1050=) | |
7 | g.150946880A>T | CA458644627 | KCNH2 | n.4160T>A c.3327T>A (p.Ser1109=) c.2307T>A (p.Ser769=) c.3027T>A (p.Ser1009=) c.3177T>A (p.Ser1059=) c.3150T>A (p.Ser1050=) | |
7 | g.150946881G>A | CA369851877 | KCNH2 | n.4159C>T c.3326C>T (p.Ser1109Phe) c.2306C>T (p.Ser769Phe) c.3026C>T (p.Ser1009Phe) c.3176C>T (p.Ser1059Phe) c.3149C>T (p.Ser1050Phe) | |
7 | g.150946881G>C | CA369851879 | KCNH2 | n.4159C>G c.3326C>G (p.Ser1109Cys) c.2306C>G (p.Ser769Cys) c.3026C>G (p.Ser1009Cys) c.3176C>G (p.Ser1059Cys) c.3149C>G (p.Ser1050Cys) | COSMIC |
7 | g.150946881G>T | CA369851881 | KCNH2 | n.4159C>A c.3326C>A (p.Ser1109Tyr) c.2306C>A (p.Ser769Tyr) c.3026C>A (p.Ser1009Tyr) c.3176C>A (p.Ser1059Tyr) c.3149C>A (p.Ser1050Tyr) | |
7 | g.150946882A>C | CA369851884 | KCNH2 | n.4158T>G c.3325T>G (p.Ser1109Ala) c.2305T>G (p.Ser769Ala) c.3025T>G (p.Ser1009Ala) c.3175T>G (p.Ser1059Ala) c.3148T>G (p.Ser1050Ala) | |
7 | g.150946882A>G | CA369851886 | KCNH2 | n.4158T>C c.3325T>C (p.Ser1109Pro) c.2305T>C (p.Ser769Pro) c.3025T>C (p.Ser1009Pro) c.3175T>C (p.Ser1059Pro) c.3148T>C (p.Ser1050Pro) | |
7 | g.150946882A>T | CA369851882 | KCNH2 | n.4158T>A c.3325T>A (p.Ser1109Thr) c.2305T>A (p.Ser769Thr) c.3025T>A (p.Ser1009Thr) c.3175T>A (p.Ser1059Thr) c.3148T>A (p.Ser1050Thr) | |
7 | g.150946883A= | CA1752427293 | KCNH2 | n.4157T= c.3324T= (p.Leu1108=) c.2304T= (p.Leu768=) c.3024T= (p.Leu1008=) c.3174T= (p.Leu1058=) c.3147T= (p.Leu1049=) | |
7 | g.150946883A>C | CA038412 | KCNH2 | n.4157T>G c.3324T>G (p.Leu1108=) c.2304T>G (p.Leu768=) c.3024T>G (p.Leu1008=) c.3174T>G (p.Leu1058=) c.3147T>G (p.Leu1049=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946883A>G | CA458644629 | KCNH2 | n.4157T>C c.3324T>C (p.Leu1108=) c.2304T>C (p.Leu768=) c.3024T>C (p.Leu1008=) c.3174T>C (p.Leu1058=) c.3147T>C (p.Leu1049=) | |
7 | g.150946883A>T | CA458644631 | KCNH2 | n.4157T>A c.3324T>A (p.Leu1108=) c.2304T>A (p.Leu768=) c.3024T>A (p.Leu1008=) c.3174T>A (p.Leu1058=) c.3147T>A (p.Leu1049=) | |
7 | g.150946884A>C | CA369851889 | KCNH2 | n.4156T>G c.3323T>G (p.Leu1108Arg) c.2303T>G (p.Leu768Arg) c.3023T>G (p.Leu1008Arg) c.3173T>G (p.Leu1058Arg) c.3146T>G (p.Leu1049Arg) | |
7 | g.150946884A>G | CA369851891 | KCNH2 | n.4156T>C c.3323T>C (p.Leu1108Pro) c.2303T>C (p.Leu768Pro) c.3023T>C (p.Leu1008Pro) c.3173T>C (p.Leu1058Pro) c.3146T>C (p.Leu1049Pro) | |
7 | g.150946884A>T | CA369851892 | KCNH2 | n.4156T>A c.3323T>A (p.Leu1108His) c.2303T>A (p.Leu768His) c.3023T>A (p.Leu1008His) c.3173T>A (p.Leu1058His) c.3146T>A (p.Leu1049His) | |
7 | g.150946885G>A | CA369851894 | KCNH2 | n.4155C>T c.3322C>T (p.Leu1108Phe) c.2302C>T (p.Leu768Phe) c.3022C>T (p.Leu1008Phe) c.3172C>T (p.Leu1058Phe) c.3145C>T (p.Leu1049Phe) | |
7 | g.150946885G>C | CA008187 | KCNH2 | n.4155C>G c.3322C>G (p.Leu1108Val) c.2302C>G (p.Leu768Val) c.3022C>G (p.Leu1008Val) c.3172C>G (p.Leu1058Val) c.3145C>G (p.Leu1049Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150946885G= | CA1752427299 | KCNH2 | n.4155C= c.3322C= (p.Leu1108=) c.2302C= (p.Leu768=) c.3022C= (p.Leu1008=) c.3172C= (p.Leu1058=) c.3145C= (p.Leu1049=) | |
7 | g.150946885G>T | CA369851897 | KCNH2 | n.4155C>A c.3322C>A (p.Leu1108Ile) c.2302C>A (p.Leu768Ile) c.3022C>A (p.Leu1008Ile) c.3172C>A (p.Leu1058Ile) c.3145C>A (p.Leu1049Ile) | |
7 | g.150946886C>A | CA458644633 | KCNH2 | n.4154G>T c.3321G>T (p.Ser1107=) c.2301G>T (p.Ser767=) c.3021G>T (p.Ser1007=) c.3171G>T (p.Ser1057=) c.3144G>T (p.Ser1048=) | |
7 | g.150946886C= | CA1752427317 | KCNH2 | n.4154G= c.3321G= (p.Ser1107=) c.2301G= (p.Ser767=) c.3021G= (p.Ser1007=) c.3171G= (p.Ser1057=) c.3144G= (p.Ser1048=) | |
7 | g.150946886C>G | CA038392 | KCNH2 | n.4154G>C c.3321G>C (p.Ser1107=) c.2301G>C (p.Ser767=) c.3021G>C (p.Ser1007=) c.3171G>C (p.Ser1057=) c.3144G>C (p.Ser1048=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946886C>T | CA038381 | KCNH2 | n.4154G>A c.3321G>A (p.Ser1107=) c.2301G>A (p.Ser767=) c.3021G>A (p.Ser1007=) c.3171G>A (p.Ser1057=) c.3144G>A (p.Ser1048=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946886_150946887insTG | CA2685600521 | KCNH2 | n.4153_4154insCA c.3320_3321insCA (p.Leu1108SerfsTer?) c.2300_2301insCA (p.Leu768SerfsTer?) c.3020_3021insCA (p.Leu1008SerfsTer?) c.3170_3171insCA (p.Leu1058SerfsTer?) c.3143_3144insCA (p.Leu1049SerfsTer?) | gnomAD v4 |
7 | g.150946887G>A | CA369851900 | KCNH2 | n.4153C>T c.3320C>T (p.Ser1107Leu) c.2300C>T (p.Ser767Leu) c.3020C>T (p.Ser1007Leu) c.3170C>T (p.Ser1057Leu) c.3143C>T (p.Ser1048Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946887G>C | CA369851901 | KCNH2 | n.4153C>G c.3320C>G (p.Ser1107Trp) c.2300C>G (p.Ser767Trp) c.3020C>G (p.Ser1007Trp) c.3170C>G (p.Ser1057Trp) c.3143C>G (p.Ser1048Trp) | gnomAD v4 |
7 | g.150946887G= | CA1752427320 | KCNH2 | n.4153C= c.3320C= (p.Ser1107=) c.2300C= (p.Ser767=) c.3020C= (p.Ser1007=) c.3170C= (p.Ser1057=) c.3143C= (p.Ser1048=) | |
7 | g.150946887G>T | CA369851903 | KCNH2 | n.4153C>A c.3320C>A (p.Ser1107Ter) c.2300C>A (p.Ser767Ter) c.3020C>A (p.Ser1007Ter) c.3170C>A (p.Ser1057Ter) c.3143C>A (p.Ser1048Ter) | |
7 | g.150946888A>C | CA369851907 | KCNH2 | n.4152T>G c.3319T>G (p.Ser1107Ala) c.2299T>G (p.Ser767Ala) c.3019T>G (p.Ser1007Ala) c.3169T>G (p.Ser1057Ala) c.3142T>G (p.Ser1048Ala) | |
7 | g.150946888A>G | CA369851908 | KCNH2 | n.4152T>C c.3319T>C (p.Ser1107Pro) c.2299T>C (p.Ser767Pro) c.3019T>C (p.Ser1007Pro) c.3169T>C (p.Ser1057Pro) c.3142T>C (p.Ser1048Pro) | gnomAD v4 |
7 | g.150946888A>T | CA369851905 | KCNH2 | n.4152T>A c.3319T>A (p.Ser1107Thr) c.2299T>A (p.Ser767Thr) c.3019T>A (p.Ser1007Thr) c.3169T>A (p.Ser1057Thr) c.3142T>A (p.Ser1048Thr) | |
7 | g.150946889G>A | CA038364 | KCNH2 | n.4151C>T c.3318C>T (p.Asp1106=) c.2298C>T (p.Asp766=) c.3018C>T (p.Asp1006=) c.3168C>T (p.Asp1056=) c.3141C>T (p.Asp1047=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946889G>C | CA369851909 | KCNH2 | n.4151C>G c.3318C>G (p.Asp1106Glu) c.2298C>G (p.Asp766Glu) c.3018C>G (p.Asp1006Glu) c.3168C>G (p.Asp1056Glu) c.3141C>G (p.Asp1047Glu) | |
7 | g.150946889G= | CA1752427323 | KCNH2 | n.4151C= c.3318C= (p.Asp1106=) c.2298C= (p.Asp766=) c.3018C= (p.Asp1006=) c.3168C= (p.Asp1056=) c.3141C= (p.Asp1047=) | |
7 | g.150946889G>T | CA369851911 | KCNH2 | n.4151C>A c.3318C>A (p.Asp1106Glu) c.2298C>A (p.Asp766Glu) c.3018C>A (p.Asp1006Glu) c.3168C>A (p.Asp1056Glu) c.3141C>A (p.Asp1047Glu) | |
7 | g.150946889_150946890insC | CA2685600522 | KCNH2 | n.4150_4151insG c.3317_3318insG (p.Asp1106GlufsTer13) c.2297_2298insG (p.Asp766GlufsTer13) c.3017_3018insG (p.Asp1006GlufsTer13) c.3167_3168insG (p.Asp1056GlufsTer13) c.3140_3141insG (p.Asp1047GlufsTer13) | gnomAD v4 |
7 | g.150946890T>A | CA369851913 | KCNH2 | n.4150A>T c.3317A>T (p.Asp1106Val) c.2297A>T (p.Asp766Val) c.3017A>T (p.Asp1006Val) c.3167A>T (p.Asp1056Val) c.3140A>T (p.Asp1047Val) | |
7 | g.150946890T>C | CA369851915 | KCNH2 | n.4150A>G c.3317A>G (p.Asp1106Gly) c.2297A>G (p.Asp766Gly) c.3017A>G (p.Asp1006Gly) c.3167A>G (p.Asp1056Gly) c.3140A>G (p.Asp1047Gly) | |
7 | g.150946890T>G | CA369851916 | KCNH2 | n.4150A>C c.3317A>C (p.Asp1106Ala) c.2297A>C (p.Asp766Ala) c.3017A>C (p.Asp1006Ala) c.3167A>C (p.Asp1056Ala) c.3140A>C (p.Asp1047Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150946890T= | CA1752427325 | KCNH2 | n.4150A= c.3317A= (p.Asp1106=) c.2297A= (p.Asp766=) c.3017A= (p.Asp1006=) c.3167A= (p.Asp1056=) c.3140A= (p.Asp1047=) | |
7 | g.150946890_150946891insTACCCTCAC | CA2685600523 | KCNH2 | n.4149_4150insGTGAGGGTA c.3316_3317insGTGAGGGTA (p.Asp1106delinsGlyGluGlyAsn) c.2296_2297insGTGAGGGTA (p.Asp766delinsGlyGluGlyAsn) c.3016_3017insGTGAGGGTA (p.Asp1006delinsGlyGluGlyAsn) c.3166_3167insGTGAGGGTA (p.Asp1056delinsGlyGluGlyAsn) c.3139_3140insGTGAGGGTA (p.Asp1047delinsGlyGluGlyAsn) | gnomAD v4 |
7 | g.150946891C>A | CA369851918 | KCNH2 | n.4149G>T c.3316G>T (p.Asp1106Tyr) c.2296G>T (p.Asp766Tyr) c.3016G>T (p.Asp1006Tyr) c.3166G>T (p.Asp1056Tyr) c.3139G>T (p.Asp1047Tyr) | gnomAD v4 |
7 | g.150946891C= | CA1752427328 | KCNH2 | n.4149G= c.3316G= (p.Asp1106=) c.2296G= (p.Asp766=) c.3016G= (p.Asp1006=) c.3166G= (p.Asp1056=) c.3139G= (p.Asp1047=) | |
7 | g.150946891C>G | CA369851922 | KCNH2 | n.4149G>C c.3316G>C (p.Asp1106His) c.2296G>C (p.Asp766His) c.3016G>C (p.Asp1006His) c.3166G>C (p.Asp1056His) c.3139G>C (p.Asp1047His) | |
7 | g.150946891C>T | CA369851920 | KCNH2 | n.4149G>A c.3316G>A (p.Asp1106Asn) c.2296G>A (p.Asp766Asn) c.3016G>A (p.Asp1006Asn) c.3166G>A (p.Asp1056Asn) c.3139G>A (p.Asp1047Asn) | dbSNP gnomAD v4 |
7 | g.150946892C>A | CA369851923 | KCNH2 | n.4148G>T c.3315G>T (p.Leu1105Phe) c.2295G>T (p.Leu765Phe) c.3015G>T (p.Leu1005Phe) c.3165G>T (p.Leu1055Phe) c.3138G>T (p.Leu1046Phe) | gnomAD v4 |
7 | g.150946892C= | CA1752427332 | KCNH2 | n.4148G= c.3315G= (p.Leu1105=) c.2295G= (p.Leu765=) c.3015G= (p.Leu1005=) c.3165G= (p.Leu1055=) c.3138G= (p.Leu1046=) | |
7 | g.150946892C>G | CA369851924 | KCNH2 | n.4148G>C c.3315G>C (p.Leu1105Phe) c.2295G>C (p.Leu765Phe) c.3015G>C (p.Leu1005Phe) c.3165G>C (p.Leu1055Phe) c.3138G>C (p.Leu1046Phe) | ClinVar dbSNP |
7 | g.150946892C>T | CA458644636 | KCNH2 | n.4148G>A c.3315G>A (p.Leu1105=) c.2295G>A (p.Leu765=) c.3015G>A (p.Leu1005=) c.3165G>A (p.Leu1055=) c.3138G>A (p.Leu1046=) | gnomAD v4 |
7 | g.150946893A= | CA1752427336 | KCNH2 | n.4147T= c.3314T= (p.Leu1105=) c.2294T= (p.Leu765=) c.3014T= (p.Leu1005=) c.3164T= (p.Leu1055=) c.3137T= (p.Leu1046=) | |
7 | g.150946893A>C | CA369851926 | KCNH2 | n.4147T>G c.3314T>G (p.Leu1105Trp) c.2294T>G (p.Leu765Trp) c.3014T>G (p.Leu1005Trp) c.3164T>G (p.Leu1055Trp) c.3137T>G (p.Leu1046Trp) | |
7 | g.150946893A>G | CA038347 | KCNH2 | n.4147T>C c.3314T>C (p.Leu1105Ser) c.2294T>C (p.Leu765Ser) c.3014T>C (p.Leu1005Ser) c.3164T>C (p.Leu1055Ser) c.3137T>C (p.Leu1046Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946893A>T | CA369851928 | KCNH2 | n.4147T>A c.3314T>A (p.Leu1105Ter) c.2294T>A (p.Leu765Ter) c.3014T>A (p.Leu1005Ter) c.3164T>A (p.Leu1055Ter) c.3137T>A (p.Leu1046Ter) | |
7 | g.150946894del | CA2685600525 | KCNH2 | n.4147del c.3314del (p.Leu1105TrpfsTer?) c.2294del (p.Leu765TrpfsTer?) c.3014del (p.Leu1005TrpfsTer?) c.3164del (p.Leu1055TrpfsTer?) c.3137del (p.Leu1046TrpfsTer?) | gnomAD v4 |
7 | g.150946894A>C | CA369851930 | KCNH2 | n.4146T>G c.3313T>G (p.Leu1105Val) c.2293T>G (p.Leu765Val) c.3013T>G (p.Leu1005Val) c.3163T>G (p.Leu1055Val) c.3136T>G (p.Leu1046Val) | |
7 | g.150946894A>G | CA458644638 | KCNH2 | n.4146T>C c.3313T>C (p.Leu1105=) c.2293T>C (p.Leu765=) c.3013T>C (p.Leu1005=) c.3163T>C (p.Leu1055=) c.3136T>C (p.Leu1046=) | gnomAD v4 |
7 | g.150946894A>T | CA369851931 | KCNH2 | n.4146T>A c.3313T>A (p.Leu1105Met) c.2293T>A (p.Leu765Met) c.3013T>A (p.Leu1005Met) c.3163T>A (p.Leu1055Met) c.3136T>A (p.Leu1046Met) | |
7 | g.150946895G>A | CA458644639 | KCNH2 | n.4145C>T c.3312C>T (p.Thr1104=) c.2292C>T (p.Thr764=) c.3012C>T (p.Thr1004=) c.3162C>T (p.Thr1054=) c.3135C>T (p.Thr1045=) | ClinVar |
7 | g.150946895G>C | CA458644640 | KCNH2 | n.4145C>G c.3312C>G (p.Thr1104=) c.2292C>G (p.Thr764=) c.3012C>G (p.Thr1004=) c.3162C>G (p.Thr1054=) c.3135C>G (p.Thr1045=) | |
7 | g.150946895G>T | CA458644641 | KCNH2 | n.4145C>A c.3312C>A (p.Thr1104=) c.2292C>A (p.Thr764=) c.3012C>A (p.Thr1004=) c.3162C>A (p.Thr1054=) c.3135C>A (p.Thr1045=) | |
7 | g.150946896G>A | CA038325 | KCNH2 | n.4144C>T c.3311C>T (p.Thr1104Ile) c.2291C>T (p.Thr764Ile) c.3011C>T (p.Thr1004Ile) c.3161C>T (p.Thr1054Ile) c.3134C>T (p.Thr1045Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946896G>C | CA369851935 | KCNH2 | n.4144C>G c.3311C>G (p.Thr1104Ser) c.2291C>G (p.Thr764Ser) c.3011C>G (p.Thr1004Ser) c.3161C>G (p.Thr1054Ser) c.3134C>G (p.Thr1045Ser) | |
7 | g.150946896G= | CA1752427338 | KCNH2 | n.4144C= c.3311C= (p.Thr1104=) c.2291C= (p.Thr764=) c.3011C= (p.Thr1004=) c.3161C= (p.Thr1054=) c.3134C= (p.Thr1045=) | |
7 | g.150946896G>T | CA369851934 | KCNH2 | n.4144C>A c.3311C>A (p.Thr1104Asn) c.2291C>A (p.Thr764Asn) c.3011C>A (p.Thr1004Asn) c.3161C>A (p.Thr1054Asn) c.3134C>A (p.Thr1045Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150946897T>A | CA369851937 | KCNH2 | n.4143A>T c.3310A>T (p.Thr1104Ser) c.2290A>T (p.Thr764Ser) c.3010A>T (p.Thr1004Ser) c.3160A>T (p.Thr1054Ser) c.3133A>T (p.Thr1045Ser) | |
7 | g.150946897T>C | CA369851938 | KCNH2 | n.4143A>G c.3310A>G (p.Thr1104Ala) c.2290A>G (p.Thr764Ala) c.3010A>G (p.Thr1004Ala) c.3160A>G (p.Thr1054Ala) c.3133A>G (p.Thr1045Ala) | |
7 | g.150946897T>G | CA169071190 | KCNH2 | n.4143A>C c.3310A>C (p.Thr1104Pro) c.2290A>C (p.Thr764Pro) c.3010A>C (p.Thr1004Pro) c.3160A>C (p.Thr1054Pro) c.3133A>C (p.Thr1045Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150946897T= | CA1752427343 | KCNH2 | n.4143A= c.3310A= (p.Thr1104=) c.2290A= (p.Thr764=) c.3010A= (p.Thr1004=) c.3160A= (p.Thr1054=) c.3133A= (p.Thr1045=) | |
7 | g.150946898G>A | CA458644642 | KCNH2 | n.4142C>T c.3309C>T (p.Leu1103=) c.2289C>T (p.Leu763=) c.3009C>T (p.Leu1003=) c.3159C>T (p.Leu1053=) c.3132C>T (p.Leu1044=) | dbSNP |
7 | g.150946898G>C | CA458644643 | KCNH2 | n.4142C>G c.3309C>G (p.Leu1103=) c.2289C>G (p.Leu763=) c.3009C>G (p.Leu1003=) c.3159C>G (p.Leu1053=) c.3132C>G (p.Leu1044=) | |
7 | g.150946898G= | CA1752427345 | KCNH2 | n.4142C= c.3309C= (p.Leu1103=) c.2289C= (p.Leu763=) c.3009C= (p.Leu1003=) c.3159C= (p.Leu1053=) c.3132C= (p.Leu1044=) | |
7 | g.150946898G>T | CA458644644 | KCNH2 | n.4142C>A c.3309C>A (p.Leu1103=) c.2289C>A (p.Leu763=) c.3009C>A (p.Leu1003=) c.3159C>A (p.Leu1053=) c.3132C>A (p.Leu1044=) | |
7 | g.150946899A= | CA1752427348 | KCNH2 | n.4141T= c.3308T= (p.Leu1103=) c.2288T= (p.Leu763=) c.3008T= (p.Leu1003=) c.3158T= (p.Leu1053=) c.3131T= (p.Leu1044=) | |
7 | g.150946899A>C | CA369851941 | KCNH2 | n.4141T>G c.3308T>G (p.Leu1103Arg) c.2288T>G (p.Leu763Arg) c.3008T>G (p.Leu1003Arg) c.3158T>G (p.Leu1053Arg) c.3131T>G (p.Leu1044Arg) | |
7 | g.150946899A>G | CA038307 | KCNH2 | n.4141T>C c.3308T>C (p.Leu1103Pro) c.2288T>C (p.Leu763Pro) c.3008T>C (p.Leu1003Pro) c.3158T>C (p.Leu1053Pro) c.3131T>C (p.Leu1044Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946899A>T | CA369851942 | KCNH2 | n.4141T>A c.3308T>A (p.Leu1103His) c.2288T>A (p.Leu763His) c.3008T>A (p.Leu1003His) c.3158T>A (p.Leu1053His) c.3131T>A (p.Leu1044His) | |
7 | g.150946900G>A | CA369851944 | KCNH2 | n.4140C>T c.3307C>T (p.Leu1103Phe) c.2287C>T (p.Leu763Phe) c.3007C>T (p.Leu1003Phe) c.3157C>T (p.Leu1053Phe) c.3130C>T (p.Leu1044Phe) | COSMIC COSMIC |
7 | g.150946900G>C | CA369851946 | KCNH2 | n.4140C>G c.3307C>G (p.Leu1103Val) c.2287C>G (p.Leu763Val) c.3007C>G (p.Leu1003Val) c.3157C>G (p.Leu1053Val) c.3130C>G (p.Leu1044Val) | |
7 | g.150946900G>T | CA369851948 | KCNH2 | n.4140C>A c.3307C>A (p.Leu1103Ile) c.2287C>A (p.Leu763Ile) c.3007C>A (p.Leu1003Ile) c.3157C>A (p.Leu1053Ile) c.3130C>A (p.Leu1044Ile) | |
7 | g.150946901G>A | CA458644646 | KCNH2 | n.4139C>T c.3306C>T (p.Thr1102=) c.2286C>T (p.Thr762=) c.3006C>T (p.Thr1002=) c.3156C>T (p.Thr1052=) c.3129C>T (p.Thr1043=) | gnomAD v4 |
7 | g.150946901G>C | CA458644647 | KCNH2 | n.4139C>G c.3306C>G (p.Thr1102=) c.2286C>G (p.Thr762=) c.3006C>G (p.Thr1002=) c.3156C>G (p.Thr1052=) c.3129C>G (p.Thr1043=) | |
7 | g.150946901G>T | CA458644648 | KCNH2 | n.4139C>A c.3306C>A (p.Thr1102=) c.2286C>A (p.Thr762=) c.3006C>A (p.Thr1002=) c.3156C>A (p.Thr1052=) c.3129C>A (p.Thr1043=) | |
7 | g.150946902G>A | CA008180 | KCNH2 | n.4138C>T c.3305C>T (p.Thr1102Ile) c.2285C>T (p.Thr762Ile) c.3005C>T (p.Thr1002Ile) c.3155C>T (p.Thr1052Ile) c.3128C>T (p.Thr1043Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.150946902G>C | CA369851950 | KCNH2 | n.4138C>G c.3305C>G (p.Thr1102Ser) c.2285C>G (p.Thr762Ser) c.3005C>G (p.Thr1002Ser) c.3155C>G (p.Thr1052Ser) c.3128C>G (p.Thr1043Ser) | |
7 | g.150946902G= | CA1752427356 | KCNH2 | n.4138C= c.3305C= (p.Thr1102=) c.2285C= (p.Thr762=) c.3005C= (p.Thr1002=) c.3155C= (p.Thr1052=) c.3128C= (p.Thr1043=) | |
7 | g.150946902G>T | CA369851952 | KCNH2 | n.4138C>A c.3305C>A (p.Thr1102Asn) c.2285C>A (p.Thr762Asn) c.3005C>A (p.Thr1002Asn) c.3155C>A (p.Thr1052Asn) c.3128C>A (p.Thr1043Asn) | gnomAD v4 |
7 | g.150946903T>A | CA369851953 | KCNH2 | n.4137A>T c.3304A>T (p.Thr1102Ser) c.2284A>T (p.Thr762Ser) c.3004A>T (p.Thr1002Ser) c.3154A>T (p.Thr1052Ser) c.3127A>T (p.Thr1043Ser) | |
7 | g.150946903T>C | CA369851956 | KCNH2 | n.4137A>G c.3304A>G (p.Thr1102Ala) c.2284A>G (p.Thr762Ala) c.3004A>G (p.Thr1002Ala) c.3154A>G (p.Thr1052Ala) c.3127A>G (p.Thr1043Ala) | |
7 | g.150946903T>G | CA369851954 | KCNH2 | n.4137A>C c.3304A>C (p.Thr1102Pro) c.2284A>C (p.Thr762Pro) c.3004A>C (p.Thr1002Pro) c.3154A>C (p.Thr1052Pro) c.3127A>C (p.Thr1043Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150946903T= | CA1752427362 | KCNH2 | n.4137A= c.3304A= (p.Thr1102=) c.2284A= (p.Thr762=) c.3004A= (p.Thr1002=) c.3154A= (p.Thr1052=) c.3127A= (p.Thr1043=) | |
7 | g.150946903_150946928delinsTGGGGAGGGGGCTGACGGGCAACAGC | CA1752427363 | KCNH2 | n.4112_4137delinsGCTGTTGCCCGTCAGCCCCCTCCCCA c.3279_3304delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1093=) c.2259_2284delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro753=) c.2979_3004delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro993=) c.3129_3154delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1043=) c.3102_3127delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1034=) | |
7 | g.150946904G>A | CA038286 | KCNH2 | n.4136C>T c.3303C>T (p.Pro1101=) c.2283C>T (p.Pro761=) c.3003C>T (p.Pro1001=) c.3153C>T (p.Pro1051=) c.3126C>T (p.Pro1042=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946904G>C | CA458644650 | KCNH2 | n.4136C>G c.3303C>G (p.Pro1101=) c.2283C>G (p.Pro761=) c.3003C>G (p.Pro1001=) c.3153C>G (p.Pro1051=) c.3126C>G (p.Pro1042=) | dbSNP gnomAD v4 |
7 | g.150946904G= | CA1752427370 | KCNH2 | n.4136C= c.3303C= (p.Pro1101=) c.2283C= (p.Pro761=) c.3003C= (p.Pro1001=) c.3153C= (p.Pro1051=) c.3126C= (p.Pro1042=) | |
7 | g.150946904G>T | CA458644652 | KCNH2 | n.4136C>A c.3303C>A (p.Pro1101=) c.2283C>A (p.Pro761=) c.3003C>A (p.Pro1001=) c.3153C>A (p.Pro1051=) c.3126C>A (p.Pro1042=) | gnomAD v4 |
7 | g.150946907dup | CA2695208688 | KCNH2 | n.4136dup c.3303dup (p.Thr1102HisfsTer17) c.2283dup (p.Thr762HisfsTer17) c.3003dup (p.Thr1002HisfsTer17) c.3153dup (p.Thr1052HisfsTer17) c.3126dup (p.Thr1043HisfsTer17) | |
7 | g.150946907del | CA2685600553 | KCNH2 | n.4136del c.3303del (p.Thr1102ProfsTer?) c.2283del (p.Thr762ProfsTer?) c.3003del (p.Thr1002ProfsTer?) c.3153del (p.Thr1052ProfsTer?) c.3126del (p.Thr1043ProfsTer?) | gnomAD v4 |
7 | g.150946909_150946933del | CA658656007 | KCNH2 | n.4112_4136del c.3279_3303del (p.Leu1094ProfsTer?) c.2259_2283del (p.Leu754ProfsTer?) c.2979_3003del (p.Leu994ProfsTer?) c.3129_3153del (p.Leu1044ProfsTer?) c.3102_3126del (p.Leu1035ProfsTer?) | ClinVar dbSNP |
7 | g.150946905G>A | CA008172 | KCNH2 | n.4135C>T c.3302C>T (p.Pro1101Leu) c.2282C>T (p.Pro761Leu) c.3002C>T (p.Pro1001Leu) c.3152C>T (p.Pro1051Leu) c.3125C>T (p.Pro1042Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.150946905G>C | CA369851959 | KCNH2 | n.4135C>G c.3302C>G (p.Pro1101Arg) c.2282C>G (p.Pro761Arg) c.3002C>G (p.Pro1001Arg) c.3152C>G (p.Pro1051Arg) c.3125C>G (p.Pro1042Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150946905G= | CA1752427398 | KCNH2 | n.4135C= c.3302C= (p.Pro1101=) c.2282C= (p.Pro761=) c.3002C= (p.Pro1001=) c.3152C= (p.Pro1051=) c.3125C= (p.Pro1042=) | |
7 | g.150946905G>T | CA369851961 | KCNH2 | n.4135C>A c.3302C>A (p.Pro1101His) c.2282C>A (p.Pro761His) c.3002C>A (p.Pro1001His) c.3152C>A (p.Pro1051His) c.3125C>A (p.Pro1042His) | gnomAD v4 |
7 | g.150946906G>A | CA369851963 | KCNH2 | n.4134C>T c.3301C>T (p.Pro1101Ser) c.2281C>T (p.Pro761Ser) c.3001C>T (p.Pro1001Ser) c.3151C>T (p.Pro1051Ser) c.3124C>T (p.Pro1042Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.150946906G>C | CA369851965 | KCNH2 | n.4134C>G c.3301C>G (p.Pro1101Ala) c.2281C>G (p.Pro761Ala) c.3001C>G (p.Pro1001Ala) c.3151C>G (p.Pro1051Ala) c.3124C>G (p.Pro1042Ala) | dbSNP gnomAD v4 |
7 | g.150946906G= | CA1752427408 | KCNH2 | n.4134C= c.3301C= (p.Pro1101=) c.2281C= (p.Pro761=) c.3001C= (p.Pro1001=) c.3151C= (p.Pro1051=) c.3124C= (p.Pro1042=) | |
7 | g.150946906G>T | CA369851966 | KCNH2 | n.4134C>A c.3301C>A (p.Pro1101Thr) c.2281C>A (p.Pro761Thr) c.3001C>A (p.Pro1001Thr) c.3151C>A (p.Pro1051Thr) c.3124C>A (p.Pro1042Thr) | |
7 | g.150946907G>A | CA458644653 | KCNH2 | n.4133C>T c.3300C>T (p.Leu1100=) c.2280C>T (p.Leu760=) c.3000C>T (p.Leu1000=) c.3150C>T (p.Leu1050=) c.3123C>T (p.Leu1041=) | |
7 | g.150946907G>C | CA458644655 | KCNH2 | n.4133C>G c.3300C>G (p.Leu1100=) c.2280C>G (p.Leu760=) c.3000C>G (p.Leu1000=) c.3150C>G (p.Leu1050=) c.3123C>G (p.Leu1041=) | |
7 | g.150946907G>T | CA458644654 | KCNH2 | n.4133C>A c.3300C>A (p.Leu1100=) c.2280C>A (p.Leu760=) c.3000C>A (p.Leu1000=) c.3150C>A (p.Leu1050=) c.3123C>A (p.Leu1041=) | COSMIC COSMIC |
7 | g.150946908A>C | CA369851968 | KCNH2 | n.4132T>G c.3299T>G (p.Leu1100Arg) c.2279T>G (p.Leu760Arg) c.2999T>G (p.Leu1000Arg) c.3149T>G (p.Leu1050Arg) c.3122T>G (p.Leu1041Arg) | |
7 | g.150946908A>G | CA369851970 | KCNH2 | n.4132T>C c.3299T>C (p.Leu1100Pro) c.2279T>C (p.Leu760Pro) c.2999T>C (p.Leu1000Pro) c.3149T>C (p.Leu1050Pro) c.3122T>C (p.Leu1041Pro) | |
7 | g.150946908A>T | CA369851971 | KCNH2 | n.4132T>A c.3299T>A (p.Leu1100His) c.2279T>A (p.Leu760His) c.2999T>A (p.Leu1000His) c.3149T>A (p.Leu1050His) c.3122T>A (p.Leu1041His) | |
7 | g.150946909G>A | CA369851975 | KCNH2 | n.4131C>T c.3298C>T (p.Leu1100Phe) c.2278C>T (p.Leu760Phe) c.2998C>T (p.Leu1000Phe) c.3148C>T (p.Leu1050Phe) c.3121C>T (p.Leu1041Phe) | gnomAD v4 |
7 | g.150946909G>C | CA369851976 | KCNH2 | n.4131C>G c.3298C>G (p.Leu1100Val) c.2278C>G (p.Leu760Val) c.2998C>G (p.Leu1000Val) c.3148C>G (p.Leu1050Val) c.3121C>G (p.Leu1041Val) | |
7 | g.150946909G>T | CA369851973 | KCNH2 | n.4131C>A c.3298C>A (p.Leu1100Ile) c.2278C>A (p.Leu760Ile) c.2998C>A (p.Leu1000Ile) c.3148C>A (p.Leu1050Ile) c.3121C>A (p.Leu1041Ile) | |
7 | g.150946913del | CA645565630 | KCNH2 | n.4131del c.3298del (p.Leu1100SerfsTer?) c.2278del (p.Leu760SerfsTer?) c.2998del (p.Leu1000SerfsTer?) c.3148del (p.Leu1050SerfsTer?) c.3121del (p.Leu1041SerfsTer?) | COSMIC COSMIC |
7 | g.150946910G>A | CA458644657 | KCNH2 | n.4130C>T c.3297C>T (p.Pro1099=) c.2277C>T (p.Pro759=) c.2997C>T (p.Pro999=) c.3147C>T (p.Pro1049=) c.3120C>T (p.Pro1040=) | |
7 | g.150946910G>C | CA458644659 | KCNH2 | n.4130C>G c.3297C>G (p.Pro1099=) c.2277C>G (p.Pro759=) c.2997C>G (p.Pro999=) c.3147C>G (p.Pro1049=) c.3120C>G (p.Pro1040=) | gnomAD v4 |
7 | g.150946910G>T | CA458644661 | KCNH2 | n.4130C>A c.3297C>A (p.Pro1099=) c.2277C>A (p.Pro759=) c.2997C>A (p.Pro999=) c.3147C>A (p.Pro1049=) c.3120C>A (p.Pro1040=) | |
7 | g.150946911G>A | CA369851978 | KCNH2 | n.4129C>T c.3296C>T (p.Pro1099Leu) c.2276C>T (p.Pro759Leu) c.2996C>T (p.Pro999Leu) c.3146C>T (p.Pro1049Leu) c.3119C>T (p.Pro1040Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.150946911G>C | CA369851979 | KCNH2 | n.4129C>G c.3296C>G (p.Pro1099Arg) c.2276C>G (p.Pro759Arg) c.2996C>G (p.Pro999Arg) c.3146C>G (p.Pro1049Arg) c.3119C>G (p.Pro1040Arg) | |
7 | g.150946911G= | CA1752427420 | KCNH2 | n.4129C= c.3296C= (p.Pro1099=) c.2276C= (p.Pro759=) c.2996C= (p.Pro999=) c.3146C= (p.Pro1049=) c.3119C= (p.Pro1040=) | |
7 | g.150946911G>T | CA369851981 | KCNH2 | n.4129C>A c.3296C>A (p.Pro1099His) c.2276C>A (p.Pro759His) c.2996C>A (p.Pro999His) c.3146C>A (p.Pro1049His) c.3119C>A (p.Pro1040His) | |
7 | g.150946915_150946922del | CA2695208689 | KCNH2 | n.4122_4129del c.3289_3296del (p.Val1097ProfsTer19) c.2269_2276del (p.Val757ProfsTer19) c.2989_2996del (p.Val997ProfsTer19) c.3139_3146del (p.Val1047ProfsTer19) c.3112_3119del (p.Val1038ProfsTer19) | |
7 | g.150946912G>A | CA369851983 | KCNH2 | n.4128C>T c.3295C>T (p.Pro1099Ser) c.2275C>T (p.Pro759Ser) c.2995C>T (p.Pro999Ser) c.3145C>T (p.Pro1049Ser) c.3118C>T (p.Pro1040Ser) | |
7 | g.150946912G>C | CA369851985 | KCNH2 | n.4128C>G c.3295C>G (p.Pro1099Ala) c.2275C>G (p.Pro759Ala) c.2995C>G (p.Pro999Ala) c.3145C>G (p.Pro1049Ala) c.3118C>G (p.Pro1040Ala) | |
7 | g.150946912G>T | CA369851986 | KCNH2 | n.4128C>A c.3295C>A (p.Pro1099Thr) c.2275C>A (p.Pro759Thr) c.2995C>A (p.Pro999Thr) c.3145C>A (p.Pro1049Thr) c.3118C>A (p.Pro1040Thr) | gnomAD v4 |
7 | g.150946913G>A | CA458644662 | KCNH2 | n.4127C>T c.3294C>T (p.Ser1098=) c.2274C>T (p.Ser758=) c.2994C>T (p.Ser998=) c.3144C>T (p.Ser1048=) c.3117C>T (p.Ser1039=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150946913G>C | CA369851990 | KCNH2 | n.4127C>G c.3294C>G (p.Ser1098Arg) c.2274C>G (p.Ser758Arg) c.2994C>G (p.Ser998Arg) c.3144C>G (p.Ser1048Arg) c.3117C>G (p.Ser1039Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946913G= | CA1752427423 | KCNH2 | n.4127C= c.3294C= (p.Ser1098=) c.2274C= (p.Ser758=) c.2994C= (p.Ser998=) c.3144C= (p.Ser1048=) c.3117C= (p.Ser1039=) | |
7 | g.150946913G>T | CA369851988 | KCNH2 | n.4127C>A c.3294C>A (p.Ser1098Arg) c.2274C>A (p.Ser758Arg) c.2994C>A (p.Ser998Arg) c.3144C>A (p.Ser1048Arg) c.3117C>A (p.Ser1039Arg) | gnomAD v4 |
7 | g.150946914C>A | CA369851991 | KCNH2 | n.4126G>T c.3293G>T (p.Ser1098Ile) c.2273G>T (p.Ser758Ile) c.2993G>T (p.Ser998Ile) c.3143G>T (p.Ser1048Ile) c.3116G>T (p.Ser1039Ile) | gnomAD v4 |
7 | g.150946914C>G | CA369851993 | KCNH2 | n.4126G>C c.3293G>C (p.Ser1098Thr) c.2273G>C (p.Ser758Thr) c.2993G>C (p.Ser998Thr) c.3143G>C (p.Ser1048Thr) c.3116G>C (p.Ser1039Thr) | |
7 | g.150946914C>T | CA369851995 | KCNH2 | n.4126G>A c.3293G>A (p.Ser1098Asn) c.2273G>A (p.Ser758Asn) c.2993G>A (p.Ser998Asn) c.3143G>A (p.Ser1048Asn) c.3116G>A (p.Ser1039Asn) | gnomAD v4 |
7 | g.150946915T>A | CA369851997 | KCNH2 | n.4125A>T c.3292A>T (p.Ser1098Cys) c.2272A>T (p.Ser758Cys) c.2992A>T (p.Ser998Cys) c.3142A>T (p.Ser1048Cys) c.3115A>T (p.Ser1039Cys) | |
7 | g.150946915T>C | CA369851998 | KCNH2 | n.4125A>G c.3292A>G (p.Ser1098Gly) c.2272A>G (p.Ser758Gly) c.2992A>G (p.Ser998Gly) c.3142A>G (p.Ser1048Gly) c.3115A>G (p.Ser1039Gly) | gnomAD v4 |
7 | g.150946915T>G | CA369852000 | KCNH2 | n.4125A>C c.3292A>C (p.Ser1098Arg) c.2272A>C (p.Ser758Arg) c.2992A>C (p.Ser998Arg) c.3142A>C (p.Ser1048Arg) c.3115A>C (p.Ser1039Arg) | ClinVar dbSNP |
7 | g.150946915T= | CA1752427430 | KCNH2 | n.4125A= c.3292A= (p.Ser1098=) c.2272A= (p.Ser758=) c.2992A= (p.Ser998=) c.3142A= (p.Ser1048=) c.3115A= (p.Ser1039=) | |
7 | g.150946916G>A | CA458644664 | KCNH2 | n.4124C>T c.3291C>T (p.Val1097=) c.2271C>T (p.Val757=) c.2991C>T (p.Val997=) c.3141C>T (p.Val1047=) c.3114C>T (p.Val1038=) | gnomAD v4 |
7 | g.150946916G>C | CA458644665 | KCNH2 | n.4124C>G c.3291C>G (p.Val1097=) c.2271C>G (p.Val757=) c.2991C>G (p.Val997=) c.3141C>G (p.Val1047=) c.3114C>G (p.Val1038=) | |
7 | g.150946916G= | CA1752427435 | KCNH2 | n.4124C= c.3291C= (p.Val1097=) c.2271C= (p.Val757=) c.2991C= (p.Val997=) c.3141C= (p.Val1047=) c.3114C= (p.Val1038=) | |
7 | g.150946916G>T | CA458644666 | KCNH2 | n.4124C>A c.3291C>A (p.Val1097=) c.2271C>A (p.Val757=) c.2991C>A (p.Val997=) c.3141C>A (p.Val1047=) c.3114C>A (p.Val1038=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946917A= | CA1752427438 | KCNH2 | n.4123T= c.3290T= (p.Val1097=) c.2270T= (p.Val757=) c.2990T= (p.Val997=) c.3140T= (p.Val1047=) c.3113T= (p.Val1038=) | |
7 | g.150946917A>C | CA369852002 | KCNH2 | n.4123T>G c.3290T>G (p.Val1097Gly) c.2270T>G (p.Val757Gly) c.2990T>G (p.Val997Gly) c.3140T>G (p.Val1047Gly) c.3113T>G (p.Val1038Gly) | |
7 | g.150946917A>G | CA369852005 | KCNH2 | n.4123T>C c.3290T>C (p.Val1097Ala) c.2270T>C (p.Val757Ala) c.2990T>C (p.Val997Ala) c.3140T>C (p.Val1047Ala) c.3113T>C (p.Val1038Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150946917A>T | CA369852004 | KCNH2 | n.4123T>A c.3290T>A (p.Val1097Asp) c.2270T>A (p.Val757Asp) c.2990T>A (p.Val997Asp) c.3140T>A (p.Val1047Asp) c.3113T>A (p.Val1038Asp) | |
7 | g.150946917_150946918del | CA2685600624 | KCNH2 | n.4122_4123del c.3289_3290del (p.Val1097GlnfsTer21) c.2269_2270del (p.Val757GlnfsTer21) c.2989_2990del (p.Val997GlnfsTer21) c.3139_3140del (p.Val1047GlnfsTer21) c.3112_3113del (p.Val1038GlnfsTer21) | gnomAD v4 |
7 | g.150946918C>A | CA369852006 | KCNH2 | n.4122G>T c.3289G>T (p.Val1097Phe) c.2269G>T (p.Val757Phe) c.2989G>T (p.Val997Phe) c.3139G>T (p.Val1047Phe) c.3112G>T (p.Val1038Phe) | gnomAD v4 |
7 | g.150946918C= | CA1752427444 | KCNH2 | n.4122G= c.3289G= (p.Val1097=) c.2269G= (p.Val757=) c.2989G= (p.Val997=) c.3139G= (p.Val1047=) c.3112G= (p.Val1038=) | |
7 | g.150946918C>G | CA369852007 | KCNH2 | n.4122G>C c.3289G>C (p.Val1097Leu) c.2269G>C (p.Val757Leu) c.2989G>C (p.Val997Leu) c.3139G>C (p.Val1047Leu) c.3112G>C (p.Val1038Leu) | |
7 | g.150946918C>T | CA008165 | KCNH2 | n.4122G>A c.3289G>A (p.Val1097Ile) c.2269G>A (p.Val757Ile) c.2989G>A (p.Val997Ile) c.3139G>A (p.Val1047Ile) c.3112G>A (p.Val1038Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150946919G>A | CA038260 | KCNH2 | n.4121C>T c.3288C>T (p.Pro1096=) c.2268C>T (p.Pro756=) c.2988C>T (p.Pro996=) c.3138C>T (p.Pro1046=) c.3111C>T (p.Pro1037=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946919G>C | CA458644668 | KCNH2 | n.4121C>G c.3288C>G (p.Pro1096=) c.2268C>G (p.Pro756=) c.2988C>G (p.Pro996=) c.3138C>G (p.Pro1046=) c.3111C>G (p.Pro1037=) | |
7 | g.150946919G= | CA1752427450 | KCNH2 | n.4121C= c.3288C= (p.Pro1096=) c.2268C= (p.Pro756=) c.2988C= (p.Pro996=) c.3138C= (p.Pro1046=) c.3111C= (p.Pro1037=) | |
7 | g.150946919G>T | CA458644667 | KCNH2 | n.4121C>A c.3288C>A (p.Pro1096=) c.2268C>A (p.Pro756=) c.2988C>A (p.Pro996=) c.3138C>A (p.Pro1046=) c.3111C>A (p.Pro1037=) | |
7 | g.150946920_150946935dup | CA2580077682 | KCNH2 | n.4106_4121dup c.3273_3288dup (p.Val1097IlefsTer27) c.2253_2268dup (p.Val757IlefsTer27) c.2973_2988dup (p.Val997IlefsTer27) c.3123_3138dup (p.Val1047IlefsTer27) c.3096_3111dup (p.Val1038IlefsTer27) | ClinVar |
7 | g.150946920G>A | CA369852010 | KCNH2 | n.4120C>T c.3287C>T (p.Pro1096Leu) c.2267C>T (p.Pro756Leu) c.2987C>T (p.Pro996Leu) c.3137C>T (p.Pro1046Leu) c.3110C>T (p.Pro1037Leu) | gnomAD v4 |
7 | g.150946920G>C | CA369852012 | KCNH2 | n.4120C>G c.3287C>G (p.Pro1096Arg) c.2267C>G (p.Pro756Arg) c.2987C>G (p.Pro996Arg) c.3137C>G (p.Pro1046Arg) c.3110C>G (p.Pro1037Arg) | |
7 | g.150946920G>T | CA369852013 | KCNH2 | n.4120C>A c.3287C>A (p.Pro1096His) c.2267C>A (p.Pro756His) c.2987C>A (p.Pro996His) c.3137C>A (p.Pro1046His) c.3110C>A (p.Pro1037His) | |
7 | g.150946921G>A | CA369852015 | KCNH2 | n.4119C>T c.3286C>T (p.Pro1096Ser) c.2266C>T (p.Pro756Ser) c.2986C>T (p.Pro996Ser) c.3136C>T (p.Pro1046Ser) c.3109C>T (p.Pro1037Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.150946921G>C | CA369852016 | KCNH2 | n.4119C>G c.3286C>G (p.Pro1096Ala) c.2266C>G (p.Pro756Ala) c.2986C>G (p.Pro996Ala) c.3136C>G (p.Pro1046Ala) c.3109C>G (p.Pro1037Ala) | |
7 | g.150946921G= | CA1752427456 | KCNH2 | n.4119C= c.3286C= (p.Pro1096=) c.2266C= (p.Pro756=) c.2986C= (p.Pro996=) c.3136C= (p.Pro1046=) c.3109C= (p.Pro1037=) | |
7 | g.150946921G>T | CA369852018 | KCNH2 | n.4119C>A c.3286C>A (p.Pro1096Thr) c.2266C>A (p.Pro756Thr) c.2986C>A (p.Pro996Thr) c.3136C>A (p.Pro1046Thr) c.3109C>A (p.Pro1037Thr) | ClinVar dbSNP gnomAD v4 |
7 | g.150946922C>A | CA369852020 | KCNH2 | n.4118G>T c.3285G>T (p.Leu1095Phe) c.2265G>T (p.Leu755Phe) c.2985G>T (p.Leu995Phe) c.3135G>T (p.Leu1045Phe) c.3108G>T (p.Leu1036Phe) | gnomAD v4 |
7 | g.150946922C= | CA1752427462 | KCNH2 | n.4118G= c.3285G= (p.Leu1095=) c.2265G= (p.Leu755=) c.2985G= (p.Leu995=) c.3135G= (p.Leu1045=) c.3108G= (p.Leu1036=) | |
7 | g.150946922C>G | CA369852021 | KCNH2 | n.4118G>C c.3285G>C (p.Leu1095Phe) c.2265G>C (p.Leu755Phe) c.2985G>C (p.Leu995Phe) c.3135G>C (p.Leu1045Phe) c.3108G>C (p.Leu1036Phe) | |
7 | g.150946922C>T | CA458644672 | KCNH2 | n.4118G>A c.3285G>A (p.Leu1095=) c.2265G>A (p.Leu755=) c.2985G>A (p.Leu995=) c.3135G>A (p.Leu1045=) c.3108G>A (p.Leu1036=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150946923A>C | CA369852026 | KCNH2 | n.4117T>G c.3284T>G (p.Leu1095Trp) c.2264T>G (p.Leu755Trp) c.2984T>G (p.Leu995Trp) c.3134T>G (p.Leu1045Trp) c.3107T>G (p.Leu1036Trp) | |
7 | g.150946923A>G | CA369852025 | KCNH2 | n.4117T>C c.3284T>C (p.Leu1095Ser) c.2264T>C (p.Leu755Ser) c.2984T>C (p.Leu995Ser) c.3134T>C (p.Leu1045Ser) c.3107T>C (p.Leu1036Ser) | |
7 | g.150946923A>T | CA369852023 | KCNH2 | n.4117T>A c.3284T>A (p.Leu1095Ter) c.2264T>A (p.Leu755Ter) c.2984T>A (p.Leu995Ter) c.3134T>A (p.Leu1045Ter) c.3107T>A (p.Leu1036Ter) | |
7 | g.150946924A>C | CA369852029 | KCNH2 | n.4116T>G c.3283T>G (p.Leu1095Val) c.2263T>G (p.Leu755Val) c.2983T>G (p.Leu995Val) c.3133T>G (p.Leu1045Val) c.3106T>G (p.Leu1036Val) | |
7 | g.150946924A>G | CA458644673 | KCNH2 | n.4116T>C c.3283T>C (p.Leu1095=) c.2263T>C (p.Leu755=) c.2983T>C (p.Leu995=) c.3133T>C (p.Leu1045=) c.3106T>C (p.Leu1036=) | |
7 | g.150946924A>T | CA369852028 | KCNH2 | n.4116T>A c.3283T>A (p.Leu1095Met) c.2263T>A (p.Leu755Met) c.2983T>A (p.Leu995Met) c.3133T>A (p.Leu1045Met) c.3106T>A (p.Leu1036Met) | |
7 | g.150946925C>A | CA458644674 | KCNH2 | n.4115G>T c.3282G>T (p.Leu1094=) c.2262G>T (p.Leu754=) c.2982G>T (p.Leu994=) c.3132G>T (p.Leu1044=) c.3105G>T (p.Leu1035=) | gnomAD v4 |
7 | g.150946925C>G | CA458644676 | KCNH2 | n.4115G>C c.3282G>C (p.Leu1094=) c.2262G>C (p.Leu754=) c.2982G>C (p.Leu994=) c.3132G>C (p.Leu1044=) c.3105G>C (p.Leu1035=) | ClinVar dbSNP |
7 | g.150946925C>T | CA458644675 | KCNH2 | n.4115G>A c.3282G>A (p.Leu1094=) c.2262G>A (p.Leu754=) c.2982G>A (p.Leu994=) c.3132G>A (p.Leu1044=) c.3105G>A (p.Leu1035=) | |
7 | g.150946926A>C | CA369852033 | KCNH2 | n.4114T>G c.3281T>G (p.Leu1094Arg) c.2261T>G (p.Leu754Arg) c.2981T>G (p.Leu994Arg) c.3131T>G (p.Leu1044Arg) c.3104T>G (p.Leu1035Arg) | |
7 | g.150946926A>G | CA369852031 | KCNH2 | n.4114T>C c.3281T>C (p.Leu1094Pro) c.2261T>C (p.Leu754Pro) c.2981T>C (p.Leu994Pro) c.3131T>C (p.Leu1044Pro) c.3104T>C (p.Leu1035Pro) | |
7 | g.150946926A>T | CA369852034 | KCNH2 | n.4114T>A c.3281T>A (p.Leu1094Gln) c.2261T>A (p.Leu754Gln) c.2981T>A (p.Leu994Gln) c.3131T>A (p.Leu1044Gln) c.3104T>A (p.Leu1035Gln) | |
7 | g.150946926dup | CA2739279284 | KCNH2 | n.4114dup c.3281dup (p.Leu1095ValfsTer24) c.2261dup (p.Leu755ValfsTer24) c.2981dup (p.Leu995ValfsTer24) c.3131dup (p.Leu1045ValfsTer24) c.3104dup (p.Leu1036ValfsTer24) | ClinVar |
7 | g.150946927G>A | CA458644677 | KCNH2 | n.4113C>T c.3280C>T (p.Leu1094=) c.2260C>T (p.Leu754=) c.2980C>T (p.Leu994=) c.3130C>T (p.Leu1044=) c.3103C>T (p.Leu1035=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150946927G>C | CA369852036 | KCNH2 | n.4113C>G c.3280C>G (p.Leu1094Val) c.2260C>G (p.Leu754Val) c.2980C>G (p.Leu994Val) c.3130C>G (p.Leu1044Val) c.3103C>G (p.Leu1035Val) | |
7 | g.150946927G= | CA1752427467 | KCNH2 | n.4113C= c.3280C= (p.Leu1094=) c.2260C= (p.Leu754=) c.2980C= (p.Leu994=) c.3130C= (p.Leu1044=) c.3103C= (p.Leu1035=) | |
7 | g.150946927G>T | CA038249 | KCNH2 | n.4113C>A c.3280C>A (p.Leu1094Met) c.2260C>A (p.Leu754Met) c.2980C>A (p.Leu994Met) c.3130C>A (p.Leu1044Met) c.3103C>A (p.Leu1035Met) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
7 | g.150946927_150946928delinsGC | CA1752427470 | KCNH2 | n.4112_4113delinsGC c.3279_3280delinsGC (p.Pro1093=) c.2259_2260delinsGC (p.Pro753=) c.2979_2980delinsGC (p.Pro993=) c.3129_3130delinsGC (p.Pro1043=) c.3102_3103delinsGC (p.Pro1034=) | |
7 | g.150946927_150946928delinsTT | CA1139660327 | KCNH2 | n.4112_4113delinsAA c.3279_3280delinsAA (p.Leu1094Met) c.2259_2260delinsAA (p.Leu754Met) c.2979_2980delinsAA (p.Leu994Met) c.3129_3130delinsAA (p.Leu1044Met) c.3102_3103delinsAA (p.Leu1035Met) | ClinVar dbSNP |
7 | g.150946928C>A | CA169071242 | KCNH2 | n.4112G>T c.3279G>T (p.Pro1093=) c.2259G>T (p.Pro753=) c.2979G>T (p.Pro993=) c.3129G>T (p.Pro1043=) c.3102G>T (p.Pro1034=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946928C= | CA1752427480 | KCNH2 | n.4112G= c.3279G= (p.Pro1093=) c.2259G= (p.Pro753=) c.2979G= (p.Pro993=) c.3129G= (p.Pro1043=) c.3102G= (p.Pro1034=) | |
7 | g.150946928C>G | CA458644678 | KCNH2 | n.4112G>C c.3279G>C (p.Pro1093=) c.2259G>C (p.Pro753=) c.2979G>C (p.Pro993=) c.3129G>C (p.Pro1043=) c.3102G>C (p.Pro1034=) | |
7 | g.150946928C>T | CA038233 | KCNH2 | n.4112G>A c.3279G>A (p.Pro1093=) c.2259G>A (p.Pro753=) c.2979G>A (p.Pro993=) c.3129G>A (p.Pro1043=) c.3102G>A (p.Pro1034=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946929G>A | CA008157 | KCNH2 | n.4111C>T c.3278C>T (p.Pro1093Leu) c.2258C>T (p.Pro753Leu) c.2978C>T (p.Pro993Leu) c.3128C>T (p.Pro1043Leu) c.3101C>T (p.Pro1034Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946929G>C | CA038207 | KCNH2 | n.4111C>G c.3278C>G (p.Pro1093Arg) c.2258C>G (p.Pro753Arg) c.2978C>G (p.Pro993Arg) c.3128C>G (p.Pro1043Arg) c.3101C>G (p.Pro1034Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946929G= | CA1752427486 | KCNH2 | n.4111C= c.3278C= (p.Pro1093=) c.2258C= (p.Pro753=) c.2978C= (p.Pro993=) c.3128C= (p.Pro1043=) c.3101C= (p.Pro1034=) | |
7 | g.150946929G>T | CA369852041 | KCNH2 | n.4111C>A c.3278C>A (p.Pro1093Gln) c.2258C>A (p.Pro753Gln) c.2978C>A (p.Pro993Gln) c.3128C>A (p.Pro1043Gln) c.3101C>A (p.Pro1034Gln) | gnomAD v4 |
7 | g.150946931_150946932del | CA2580077684 | KCNH2 | n.4110_4111del c.3277_3278del (p.Pro1093AlafsTer25) c.2257_2258del (p.Pro753AlafsTer25) c.2977_2978del (p.Pro993AlafsTer25) c.3127_3128del (p.Pro1043AlafsTer25) c.3100_3101del (p.Pro1034AlafsTer25) | ClinVar |
7 | g.150946930G>A | CA369852042 | KCNH2 | n.4110C>T c.3277C>T (p.Pro1093Ser) c.2257C>T (p.Pro753Ser) c.2977C>T (p.Pro993Ser) c.3127C>T (p.Pro1043Ser) c.3100C>T (p.Pro1034Ser) | |
7 | g.150946930G>C | CA369852044 | KCNH2 | n.4110C>G c.3277C>G (p.Pro1093Ala) c.2257C>G (p.Pro753Ala) c.2977C>G (p.Pro993Ala) c.3127C>G (p.Pro1043Ala) c.3100C>G (p.Pro1034Ala) | dbSNP |
7 | g.150946930G= | CA1752427495 | KCNH2 | n.4110C= c.3277C= (p.Pro1093=) c.2257C= (p.Pro753=) c.2977C= (p.Pro993=) c.3127C= (p.Pro1043=) c.3100C= (p.Pro1034=) | |
7 | g.150946930G>T | CA369852046 | KCNH2 | n.4110C>A c.3277C>A (p.Pro1093Thr) c.2257C>A (p.Pro753Thr) c.2977C>A (p.Pro993Thr) c.3127C>A (p.Pro1043Thr) c.3100C>A (p.Pro1034Thr) | |
7 | g.150946931G>A | CA038193 | KCNH2 | n.4109C>T c.3276C>T (p.Ser1092=) c.2256C>T (p.Ser752=) c.2976C>T (p.Ser992=) c.3126C>T (p.Ser1042=) c.3099C>T (p.Ser1033=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150946931G>C | CA458644680 | KCNH2 | n.4109C>G c.3276C>G (p.Ser1092=) c.2256C>G (p.Ser752=) c.2976C>G (p.Ser992=) c.3126C>G (p.Ser1042=) c.3099C>G (p.Ser1033=) | |
7 | g.150946931G= | CA1752427503 | KCNH2 | n.4109C= c.3276C= (p.Ser1092=) c.2256C= (p.Ser752=) c.2976C= (p.Ser992=) c.3126C= (p.Ser1042=) c.3099C= (p.Ser1033=) | |
7 | g.150946931G>T | CA458644681 | KCNH2 | n.4109C>A c.3276C>A (p.Ser1092=) c.2256C>A (p.Ser752=) c.2976C>A (p.Ser992=) c.3126C>A (p.Ser1042=) c.3099C>A (p.Ser1033=) | |
7 | g.150946932G>A | CA038177 | KCNH2 | n.4108C>T c.3275C>T (p.Ser1092Phe) c.2255C>T (p.Ser752Phe) c.2975C>T (p.Ser992Phe) c.3125C>T (p.Ser1042Phe) c.3098C>T (p.Ser1033Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946932G>C | CA369852049 | KCNH2 | n.4108C>G c.3275C>G (p.Ser1092Cys) c.2255C>G (p.Ser752Cys) c.2975C>G (p.Ser992Cys) c.3125C>G (p.Ser1042Cys) c.3098C>G (p.Ser1033Cys) | |
7 | g.150946932G= | CA1752427509 | KCNH2 | n.4108C= c.3275C= (p.Ser1092=) c.2255C= (p.Ser752=) c.2975C= (p.Ser992=) c.3125C= (p.Ser1042=) c.3098C= (p.Ser1033=) | |
7 | g.150946932G>T | CA369852048 | KCNH2 | n.4108C>A c.3275C>A (p.Ser1092Tyr) c.2255C>A (p.Ser752Tyr) c.2975C>A (p.Ser992Tyr) c.3125C>A (p.Ser1042Tyr) c.3098C>A (p.Ser1033Tyr) | |
7 | g.150946933A>C | CA369852052 | KCNH2 | n.4107T>G c.3274T>G (p.Ser1092Ala) c.2254T>G (p.Ser752Ala) c.2974T>G (p.Ser992Ala) c.3124T>G (p.Ser1042Ala) c.3097T>G (p.Ser1033Ala) | |
7 | g.150946933A>G | CA369852053 | KCNH2 | n.4107T>C c.3274T>C (p.Ser1092Pro) c.2254T>C (p.Ser752Pro) c.2974T>C (p.Ser992Pro) c.3124T>C (p.Ser1042Pro) c.3097T>C (p.Ser1033Pro) | |
7 | g.150946933A>T | CA369852055 | KCNH2 | n.4107T>A c.3274T>A (p.Ser1092Thr) c.2254T>A (p.Ser752Thr) c.2974T>A (p.Ser992Thr) c.3124T>A (p.Ser1042Thr) c.3097T>A (p.Ser1033Thr) | |
7 | g.150946934T>A | CA458644684 | KCNH2 | n.4106A>T c.3273A>T (p.Thr1091=) c.2253A>T (p.Thr751=) c.2973A>T (p.Thr991=) c.3123A>T (p.Thr1041=) c.3096A>T (p.Thr1032=) | |
7 | g.150946934T>C | CA458644682 | KCNH2 | n.4106A>G c.3273A>G (p.Thr1091=) c.2253A>G (p.Thr751=) c.2973A>G (p.Thr991=) c.3123A>G (p.Thr1041=) c.3096A>G (p.Thr1032=) | gnomAD v4 |
7 | g.150946934T>G | CA458644683 | KCNH2 | n.4106A>C c.3273A>C (p.Thr1091=) c.2253A>C (p.Thr751=) c.2973A>C (p.Thr991=) c.3123A>C (p.Thr1041=) c.3096A>C (p.Thr1032=) | |
7 | g.150946935G>A | CA369852057 | KCNH2 | n.4105C>T c.3272C>T (p.Thr1091Ile) c.2252C>T (p.Thr751Ile) c.2972C>T (p.Thr991Ile) c.3122C>T (p.Thr1041Ile) c.3095C>T (p.Thr1032Ile) | |
7 | g.150946935G>C | CA369852058 | KCNH2 | n.4105C>G c.3272C>G (p.Thr1091Arg) c.2252C>G (p.Thr751Arg) c.2972C>G (p.Thr991Arg) c.3122C>G (p.Thr1041Arg) c.3095C>G (p.Thr1032Arg) | gnomAD v4 |
7 | g.150946935G>T | CA369852060 | KCNH2 | n.4105C>A c.3272C>A (p.Thr1091Lys) c.2252C>A (p.Thr751Lys) c.2972C>A (p.Thr991Lys) c.3122C>A (p.Thr1041Lys) c.3095C>A (p.Thr1032Lys) | |
7 | g.150946936T>A | CA369852062 | KCNH2 | n.4104A>T c.3271A>T (p.Thr1091Ser) c.2251A>T (p.Thr751Ser) c.2971A>T (p.Thr991Ser) c.3121A>T (p.Thr1041Ser) c.3094A>T (p.Thr1032Ser) | |
7 | g.150946936T>C | CA369852064 | KCNH2 | n.4104A>G c.3271A>G (p.Thr1091Ala) c.2251A>G (p.Thr751Ala) c.2971A>G (p.Thr991Ala) c.3121A>G (p.Thr1041Ala) c.3094A>G (p.Thr1032Ala) | |
7 | g.150946936T>G | CA369852065 | KCNH2 | n.4104A>C c.3271A>C (p.Thr1091Pro) c.2251A>C (p.Thr751Pro) c.2971A>C (p.Thr991Pro) c.3121A>C (p.Thr1041Pro) c.3094A>C (p.Thr1032Pro) | gnomAD v4 |
7 | g.150946937G>A | CA458644687 | KCNH2 | n.4103C>T c.3270C>T (p.Ser1090=) c.2250C>T (p.Ser750=) c.2970C>T (p.Ser990=) c.3120C>T (p.Ser1040=) c.3093C>T (p.Ser1031=) | |
7 | g.150946937G>C | CA458644688 | KCNH2 | n.4103C>G c.3270C>G (p.Ser1090=) c.2250C>G (p.Ser750=) c.2970C>G (p.Ser990=) c.3120C>G (p.Ser1040=) c.3093C>G (p.Ser1031=) | |
7 | g.150946937G>T | CA458644689 | KCNH2 | n.4103C>A c.3270C>A (p.Ser1090=) c.2250C>A (p.Ser750=) c.2970C>A (p.Ser990=) c.3120C>A (p.Ser1040=) c.3093C>A (p.Ser1031=) | |
7 | g.150946938G>A | CA038159 | KCNH2 | n.4102C>T c.3269C>T (p.Ser1090Phe) c.2249C>T (p.Ser750Phe) c.2969C>T (p.Ser990Phe) c.3119C>T (p.Ser1040Phe) c.3092C>T (p.Ser1031Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946938G>C | CA369852068 | KCNH2 | n.4102C>G c.3269C>G (p.Ser1090Cys) c.2249C>G (p.Ser750Cys) c.2969C>G (p.Ser990Cys) c.3119C>G (p.Ser1040Cys) c.3092C>G (p.Ser1031Cys) | |
7 | g.150946938G= | CA1752427514 | KCNH2 | n.4102C= c.3269C= (p.Ser1090=) c.2249C= (p.Ser750=) c.2969C= (p.Ser990=) c.3119C= (p.Ser1040=) c.3092C= (p.Ser1031=) | |
7 | g.150946938G>T | CA369852070 | KCNH2 | n.4102C>A c.3269C>A (p.Ser1090Tyr) c.2249C>A (p.Ser750Tyr) c.2969C>A (p.Ser990Tyr) c.3119C>A (p.Ser1040Tyr) c.3092C>A (p.Ser1031Tyr) | |
7 | g.150946939A>C | CA369852074 | KCNH2 | n.4101T>G c.3268T>G (p.Ser1090Ala) c.2248T>G (p.Ser750Ala) c.2968T>G (p.Ser990Ala) c.3118T>G (p.Ser1040Ala) c.3091T>G (p.Ser1031Ala) | |
7 | g.150946939A>G | CA369852073 | KCNH2 | n.4101T>C c.3268T>C (p.Ser1090Pro) c.2248T>C (p.Ser750Pro) c.2968T>C (p.Ser990Pro) c.3118T>C (p.Ser1040Pro) c.3091T>C (p.Ser1031Pro) | |
7 | g.150946939A>T | CA369852071 | KCNH2 | n.4101T>A c.3268T>A (p.Ser1090Thr) c.2248T>A (p.Ser750Thr) c.2968T>A (p.Ser990Thr) c.3118T>A (p.Ser1040Thr) c.3091T>A (p.Ser1031Thr) | |
7 | g.150946940A>C | CA458644690 | KCNH2 | n.4100T>G c.3267T>G (p.Thr1089=) c.2247T>G (p.Thr749=) c.2967T>G (p.Thr989=) c.3117T>G (p.Thr1039=) c.3090T>G (p.Thr1030=) | |
7 | g.150946940A>G | CA458644692 | KCNH2 | n.4100T>C c.3267T>C (p.Thr1089=) c.2247T>C (p.Thr749=) c.2967T>C (p.Thr989=) c.3117T>C (p.Thr1039=) c.3090T>C (p.Thr1030=) | gnomAD v4 |
7 | g.150946940A>T | CA458644691 | KCNH2 | n.4100T>A c.3267T>A (p.Thr1089=) c.2247T>A (p.Thr749=) c.2967T>A (p.Thr989=) c.3117T>A (p.Thr1039=) c.3090T>A (p.Thr1030=) | |
7 | g.150946941G>A | CA169071264 | KCNH2 | n.4099C>T c.3266C>T (p.Thr1089Ile) c.2246C>T (p.Thr749Ile) c.2966C>T (p.Thr989Ile) c.3116C>T (p.Thr1039Ile) c.3089C>T (p.Thr1030Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946941G>C | CA369852077 | KCNH2 | n.4099C>G c.3266C>G (p.Thr1089Ser) c.2246C>G (p.Thr749Ser) c.2966C>G (p.Thr989Ser) c.3116C>G (p.Thr1039Ser) c.3089C>G (p.Thr1030Ser) | |
7 | g.150946941G= | CA1752427516 | KCNH2 | n.4099C= c.3266C= (p.Thr1089=) c.2246C= (p.Thr749=) c.2966C= (p.Thr989=) c.3116C= (p.Thr1039=) c.3089C= (p.Thr1030=) | |
7 | g.150946941G>T | CA369852078 | KCNH2 | n.4099C>A c.3266C>A (p.Thr1089Asn) c.2246C>A (p.Thr749Asn) c.2966C>A (p.Thr989Asn) c.3116C>A (p.Thr1039Asn) c.3089C>A (p.Thr1030Asn) | |
7 | g.150946945_150946962del | CA2685600727 | KCNH2 | n.4082_4099del c.3249_3266del (p.Pro1084_Thr1089del) c.2229_2246del (p.Pro744_Thr749del) c.2949_2966del (p.Pro984_Thr989del) c.3099_3116del (p.Pro1034_Thr1039del) c.3072_3089del (p.Pro1025_Thr1030del) | gnomAD v4 |
7 | g.150946942T>A | CA369852079 | KCNH2 | n.4098A>T c.3265A>T (p.Thr1089Ser) c.2245A>T (p.Thr749Ser) c.2965A>T (p.Thr989Ser) c.3115A>T (p.Thr1039Ser) c.3088A>T (p.Thr1030Ser) | |
7 | g.150946942T>C | CA369852080 | KCNH2 | n.4098A>G c.3265A>G (p.Thr1089Ala) c.2245A>G (p.Thr749Ala) c.2965A>G (p.Thr989Ala) c.3115A>G (p.Thr1039Ala) c.3088A>G (p.Thr1030Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946942T>G | CA369852081 | KCNH2 | n.4098A>C c.3265A>C (p.Thr1089Pro) c.2245A>C (p.Thr749Pro) c.2965A>C (p.Thr989Pro) c.3115A>C (p.Thr1039Pro) c.3088A>C (p.Thr1030Pro) | dbSNP |
7 | g.150946942T= | CA1752427520 | KCNH2 | n.4098A= c.3265A= (p.Thr1089=) c.2245A= (p.Thr749=) c.2965A= (p.Thr989=) c.3115A= (p.Thr1039=) c.3088A= (p.Thr1030=) | |
7 | g.150946943G>A | CA458644693 | KCNH2 | n.4097C>T c.3264C>T (p.Pro1088=) c.2244C>T (p.Pro748=) c.2964C>T (p.Pro988=) c.3114C>T (p.Pro1038=) c.3087C>T (p.Pro1029=) | |
7 | g.150946943G>C | CA458644694 | KCNH2 | n.4097C>G c.3264C>G (p.Pro1088=) c.2244C>G (p.Pro748=) c.2964C>G (p.Pro988=) c.3114C>G (p.Pro1038=) c.3087C>G (p.Pro1029=) | ClinVar dbSNP |
7 | g.150946943G= | CA1752427524 | KCNH2 | n.4097C= c.3264C= (p.Pro1088=) c.2244C= (p.Pro748=) c.2964C= (p.Pro988=) c.3114C= (p.Pro1038=) c.3087C= (p.Pro1029=) | |
7 | g.150946943G>T | CA458644695 | KCNH2 | n.4097C>A c.3264C>A (p.Pro1088=) c.2244C>A (p.Pro748=) c.2964C>A (p.Pro988=) c.3114C>A (p.Pro1038=) c.3087C>A (p.Pro1029=) | ClinVar gnomAD v4 |
7 | g.150946946del | CA2685600734 | KCNH2 | n.4097del c.3264del (p.Thr1089LeufsTer?) c.2244del (p.Thr749LeufsTer?) c.2964del (p.Thr989LeufsTer?) c.3114del (p.Thr1039LeufsTer?) c.3087del (p.Thr1030LeufsTer?) | gnomAD v4 |
7 | g.150946944G>A | CA369852082 | KCNH2 | n.4096C>T c.3263C>T (p.Pro1088Leu) c.2243C>T (p.Pro748Leu) c.2963C>T (p.Pro988Leu) c.3113C>T (p.Pro1038Leu) c.3086C>T (p.Pro1029Leu) | ClinVar |
7 | g.150946944G>C | CA369852083 | KCNH2 | n.4096C>G c.3263C>G (p.Pro1088Arg) c.2243C>G (p.Pro748Arg) c.2963C>G (p.Pro988Arg) c.3113C>G (p.Pro1038Arg) c.3086C>G (p.Pro1029Arg) | ClinVar dbSNP |
7 | g.150946944G= | CA1752427532 | KCNH2 | n.4096C= c.3263C= (p.Pro1088=) c.2243C= (p.Pro748=) c.2963C= (p.Pro988=) c.3113C= (p.Pro1038=) c.3086C= (p.Pro1029=) | |
7 | g.150946944G>T | CA369852084 | KCNH2 | n.4096C>A c.3263C>A (p.Pro1088His) c.2243C>A (p.Pro748His) c.2963C>A (p.Pro988His) c.3113C>A (p.Pro1038His) c.3086C>A (p.Pro1029His) | |
7 | g.150946945G>A | CA369852085 | KCNH2 | n.4095C>T c.3262C>T (p.Pro1088Ser) c.2242C>T (p.Pro748Ser) c.2962C>T (p.Pro988Ser) c.3112C>T (p.Pro1038Ser) c.3085C>T (p.Pro1029Ser) | dbSNP gnomAD v4 |
7 | g.150946945G>C | CA369852086 | KCNH2 | n.4095C>G c.3262C>G (p.Pro1088Ala) c.2242C>G (p.Pro748Ala) c.2962C>G (p.Pro988Ala) c.3112C>G (p.Pro1038Ala) c.3085C>G (p.Pro1029Ala) | dbSNP gnomAD v4 |
7 | g.150946945G= | CA1752427536 | KCNH2 | n.4095C= c.3262C= (p.Pro1088=) c.2242C= (p.Pro748=) c.2962C= (p.Pro988=) c.3112C= (p.Pro1038=) c.3085C= (p.Pro1029=) | |
7 | g.150946945G>T | CA369852087 | KCNH2 | n.4095C>A c.3262C>A (p.Pro1088Thr) c.2242C>A (p.Pro748Thr) c.2962C>A (p.Pro988Thr) c.3112C>A (p.Pro1038Thr) c.3085C>A (p.Pro1029Thr) | ClinVar |
7 | g.150946947_150946957del | CA2695208690 | KCNH2 | n.4085_4095del c.3252_3262del (p.Gly1085HisfsTer?) c.2232_2242del (p.Gly745HisfsTer?) c.2952_2962del (p.Gly985HisfsTer?) c.3102_3112del (p.Gly1035HisfsTer?) c.3075_3085del (p.Gly1026HisfsTer?) | |
7 | g.150946946G>A | CA458644696 | KCNH2 | n.4094C>T c.3261C>T (p.Gly1087=) c.2241C>T (p.Gly747=) c.2961C>T (p.Gly987=) c.3111C>T (p.Gly1037=) c.3084C>T (p.Gly1028=) | ClinVar dbSNP gnomAD v4 |
7 | g.150946946G>C | CA458644697 | KCNH2 | n.4094C>G c.3261C>G (p.Gly1087=) c.2241C>G (p.Gly747=) c.2961C>G (p.Gly987=) c.3111C>G (p.Gly1037=) c.3084C>G (p.Gly1028=) | |
7 | g.150946946G= | CA1752427541 | KCNH2 | n.4094C= c.3261C= (p.Gly1087=) c.2241C= (p.Gly747=) c.2961C= (p.Gly987=) c.3111C= (p.Gly1037=) c.3084C= (p.Gly1028=) | |
7 | g.150946946G>T | CA458644698 | KCNH2 | n.4094C>A c.3261C>A (p.Gly1087=) c.2241C>A (p.Gly747=) c.2961C>A (p.Gly987=) c.3111C>A (p.Gly1037=) c.3084C>A (p.Gly1028=) | |
7 | g.150946946_150946948delinsGCC | CA1752427540 | KCNH2 | n.4092_4094delinsGGC c.3259_3261delinsGGC (p.Gly1087=) c.2239_2241delinsGGC (p.Gly747=) c.2959_2961delinsGGC (p.Gly987=) c.3109_3111delinsGGC (p.Gly1037=) c.3082_3084delinsGGC (p.Gly1028=) | |
7 | g.150946947C>A | CA369852089 | KCNH2 | n.4093G>T c.3260G>T (p.Gly1087Val) c.2240G>T (p.Gly747Val) c.2960G>T (p.Gly987Val) c.3110G>T (p.Gly1037Val) c.3083G>T (p.Gly1028Val) | gnomAD v4 |
7 | g.150946947C= | CA1752427545 | KCNH2 | n.4093G= c.3260G= (p.Gly1087=) c.2240G= (p.Gly747=) c.2960G= (p.Gly987=) c.3110G= (p.Gly1037=) c.3083G= (p.Gly1028=) | |
7 | g.150946947C>G | CA369852088 | KCNH2 | n.4093G>C c.3260G>C (p.Gly1087Ala) c.2240G>C (p.Gly747Ala) c.2960G>C (p.Gly987Ala) c.3110G>C (p.Gly1037Ala) c.3083G>C (p.Gly1028Ala) | |
7 | g.150946947C>T | CA169071265 | KCNH2 | n.4093G>A c.3260G>A (p.Gly1087Asp) c.2240G>A (p.Gly747Asp) c.2960G>A (p.Gly987Asp) c.3110G>A (p.Gly1037Asp) c.3083G>A (p.Gly1028Asp) | dbSNP |
7 | g.150946947_150946948del | CA579075341 | KCNH2 | n.4092_4093del c.3259_3260del (p.Gly1087ProfsTer?) c.2239_2240del (p.Gly747ProfsTer?) c.2959_2960del (p.Gly987ProfsTer?) c.3109_3110del (p.Gly1037ProfsTer?) c.3082_3083del (p.Gly1028ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946948C>A | CA369852090 | KCNH2 | n.4092G>T c.3259G>T (p.Gly1087Cys) c.2239G>T (p.Gly747Cys) c.2959G>T (p.Gly987Cys) c.3109G>T (p.Gly1037Cys) c.3082G>T (p.Gly1028Cys) | |
7 | g.150946948C= | CA1752427548 | KCNH2 | n.4092G= c.3259G= (p.Gly1087=) c.2239G= (p.Gly747=) c.2959G= (p.Gly987=) c.3109G= (p.Gly1037=) c.3082G= (p.Gly1028=) | |
7 | g.150946948C>G | CA369852091 | KCNH2 | n.4092G>C c.3259G>C (p.Gly1087Arg) c.2239G>C (p.Gly747Arg) c.2959G>C (p.Gly987Arg) c.3109G>C (p.Gly1037Arg) c.3082G>C (p.Gly1028Arg) | |
7 | g.150946948C>T | CA169071269 | KCNH2 | n.4092G>A c.3259G>A (p.Gly1087Ser) c.2239G>A (p.Gly747Ser) c.2959G>A (p.Gly987Ser) c.3109G>A (p.Gly1037Ser) c.3082G>A (p.Gly1028Ser) | dbSNP |
7 | g.150946949A= | CA1752427550 | KCNH2 | n.4091T= c.3258T= (p.Pro1086=) c.2238T= (p.Pro746=) c.2958T= (p.Pro986=) c.3108T= (p.Pro1036=) c.3081T= (p.Pro1027=) | |
7 | g.150946949A>C | CA458644700 | KCNH2 | n.4091T>G c.3258T>G (p.Pro1086=) c.2238T>G (p.Pro746=) c.2958T>G (p.Pro986=) c.3108T>G (p.Pro1036=) c.3081T>G (p.Pro1027=) | ClinVar gnomAD v4 |
7 | g.150946949A>G | CA458644701 | KCNH2 | n.4091T>C c.3258T>C (p.Pro1086=) c.2238T>C (p.Pro746=) c.2958T>C (p.Pro986=) c.3108T>C (p.Pro1036=) c.3081T>C (p.Pro1027=) | gnomAD v4 |
7 | g.150946949A>T | CA458644699 | KCNH2 | n.4091T>A c.3258T>A (p.Pro1086=) c.2238T>A (p.Pro746=) c.2958T>A (p.Pro986=) c.3108T>A (p.Pro1036=) c.3081T>A (p.Pro1027=) | gnomAD v4 |
7 | g.150946949_150946950insC | CA2697557662 | KCNH2 | n.4090_4091insG c.3257_3258insG (p.Gly1087TrpfsTer?) c.2237_2238insG (p.Gly747TrpfsTer?) c.2957_2958insG (p.Gly987TrpfsTer?) c.3107_3108insG (p.Gly1037TrpfsTer?) c.3080_3081insG (p.Gly1028TrpfsTer?) | ClinVar |
7 | g.150946949_150946950insT | CA579075342 | KCNH2 | n.4090_4091insA c.3257_3258insA (p.Gly1087TrpfsTer?) c.2237_2238insA (p.Gly747TrpfsTer?) c.2957_2958insA (p.Gly987TrpfsTer?) c.3107_3108insA (p.Gly1037TrpfsTer?) c.3080_3081insA (p.Gly1028TrpfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946950G>A | CA369852092 | KCNH2 | n.4090C>T c.3257C>T (p.Pro1086Leu) c.2237C>T (p.Pro746Leu) c.2957C>T (p.Pro986Leu) c.3107C>T (p.Pro1036Leu) c.3080C>T (p.Pro1027Leu) | gnomAD v4 |
7 | g.150946950G>C | CA369852093 | KCNH2 | n.4090C>G c.3257C>G (p.Pro1086Arg) c.2237C>G (p.Pro746Arg) c.2957C>G (p.Pro986Arg) c.3107C>G (p.Pro1036Arg) c.3080C>G (p.Pro1027Arg) | |
7 | g.150946950G= | CA1752427553 | KCNH2 | n.4090C= c.3257C= (p.Pro1086=) c.2237C= (p.Pro746=) c.2957C= (p.Pro986=) c.3107C= (p.Pro1036=) c.3080C= (p.Pro1027=) | |
7 | g.150946950G>T | CA369852094 | KCNH2 | n.4090C>A c.3257C>A (p.Pro1086His) c.2237C>A (p.Pro746His) c.2957C>A (p.Pro986His) c.3107C>A (p.Pro1036His) c.3080C>A (p.Pro1027His) | |
7 | g.150946950_150946951insTGCT | CA579075343 | KCNH2 | n.4089_4090insAGCA c.3256_3257insAGCA (p.Pro1086GlnfsTer?) c.2236_2237insAGCA (p.Pro746GlnfsTer?) c.2956_2957insAGCA (p.Pro986GlnfsTer?) c.3106_3107insAGCA (p.Pro1036GlnfsTer?) c.3079_3080insAGCA (p.Pro1027GlnfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946951G>A | CA369852095 | KCNH2 | n.4089C>T c.3256C>T (p.Pro1086Ser) c.2236C>T (p.Pro746Ser) c.2956C>T (p.Pro986Ser) c.3106C>T (p.Pro1036Ser) c.3079C>T (p.Pro1027Ser) | |
7 | g.150946951G>C | CA369852096 | KCNH2 | n.4089C>G c.3256C>G (p.Pro1086Ala) c.2236C>G (p.Pro746Ala) c.2956C>G (p.Pro986Ala) c.3106C>G (p.Pro1036Ala) c.3079C>G (p.Pro1027Ala) | |
7 | g.150946951G>T | CA369852097 | KCNH2 | n.4089C>A c.3256C>A (p.Pro1086Thr) c.2236C>A (p.Pro746Thr) c.2956C>A (p.Pro986Thr) c.3106C>A (p.Pro1036Thr) c.3079C>A (p.Pro1027Thr) | |
7 | g.150946951_150946952delinsGC | CA1752427556 | KCNH2 | n.4088_4089delinsGC c.3255_3256delinsGC (p.Gly1085=) c.2235_2236delinsGC (p.Gly745=) c.2955_2956delinsGC (p.Gly985=) c.3105_3106delinsGC (p.Gly1035=) c.3078_3079delinsGC (p.Gly1026=) | |
7 | g.150946952C>A | CA169071274 | KCNH2 | n.4088G>T c.3255G>T (p.Gly1085=) c.2235G>T (p.Gly745=) c.2955G>T (p.Gly985=) c.3105G>T (p.Gly1035=) c.3078G>T (p.Gly1026=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150946952C= | CA1752427563 | KCNH2 | n.4088G= c.3255G= (p.Gly1085=) c.2235G= (p.Gly745=) c.2955G= (p.Gly985=) c.3105G= (p.Gly1035=) c.3078G= (p.Gly1026=) | |
7 | g.150946952C>G | CA458644703 | KCNH2 | n.4088G>C c.3255G>C (p.Gly1085=) c.2235G>C (p.Gly745=) c.2955G>C (p.Gly985=) c.3105G>C (p.Gly1035=) c.3078G>C (p.Gly1026=) | ClinVar |
7 | g.150946952C>T | CA458644704 | KCNH2 | n.4088G>A c.3255G>A (p.Gly1085=) c.2235G>A (p.Gly745=) c.2955G>A (p.Gly985=) c.3105G>A (p.Gly1035=) c.3078G>A (p.Gly1026=) | ClinVar dbSNP gnomAD v4 |
7 | g.150946955dup | CA2499218780 | KCNH2 | n.4088dup c.3255dup (p.Pro1086AlafsTer?) c.2235dup (p.Pro746AlafsTer?) c.2955dup (p.Pro986AlafsTer?) c.3105dup (p.Pro1036AlafsTer?) c.3078dup (p.Pro1027AlafsTer?) | ClinVar dbSNP |
7 | g.150946955del | CA16618396 | KCNH2 | n.4088del c.3255del (p.Pro1086LeufsTer?) c.2235del (p.Pro746LeufsTer?) c.2955del (p.Pro986LeufsTer?) c.3105del (p.Pro1036LeufsTer?) c.3078del (p.Pro1027LeufsTer?) | ClinVar dbSNP gnomAD v4 |
7 | g.150946954_150946955del | CA2695208691 | KCNH2 | n.4087_4088del c.3254_3255del (p.Gly1085AlafsTer?) c.2234_2235del (p.Gly745AlafsTer?) c.2954_2955del (p.Gly985AlafsTer?) c.3104_3105del (p.Gly1035AlafsTer?) c.3077_3078del (p.Gly1026AlafsTer?) | |
7 | g.150946953C>A | CA369852098 | KCNH2 | n.4087G>T c.3254G>T (p.Gly1085Val) c.2234G>T (p.Gly745Val) c.2954G>T (p.Gly985Val) c.3104G>T (p.Gly1035Val) c.3077G>T (p.Gly1026Val) | |
7 | g.150946953C>G | CA369852099 | KCNH2 | n.4087G>C c.3254G>C (p.Gly1085Ala) c.2234G>C (p.Gly745Ala) c.2954G>C (p.Gly985Ala) c.3104G>C (p.Gly1035Ala) c.3077G>C (p.Gly1026Ala) | |
7 | g.150946953C>T | CA369852100 | KCNH2 | n.4087G>A c.3254G>A (p.Gly1085Glu) c.2234G>A (p.Gly745Glu) c.2954G>A (p.Gly985Glu) c.3104G>A (p.Gly1035Glu) c.3077G>A (p.Gly1026Glu) | gnomAD v4 |
7 | g.150946954C>A | CA369852102 | KCNH2 | n.4086G>T c.3253G>T (p.Gly1085Trp) c.2233G>T (p.Gly745Trp) c.2953G>T (p.Gly985Trp) c.3103G>T (p.Gly1035Trp) c.3076G>T (p.Gly1026Trp) | |
7 | g.150946954C>G | CA369852103 | KCNH2 | n.4086G>C c.3253G>C (p.Gly1085Arg) c.2233G>C (p.Gly745Arg) c.2953G>C (p.Gly985Arg) c.3103G>C (p.Gly1035Arg) c.3076G>C (p.Gly1026Arg) | ClinVar |
7 | g.150946954C>T | CA369852101 | KCNH2 | n.4086G>A c.3253G>A (p.Gly1085Arg) c.2233G>A (p.Gly745Arg) c.2953G>A (p.Gly985Arg) c.3103G>A (p.Gly1035Arg) c.3076G>A (p.Gly1026Arg) | |
7 | g.150946955C>A | CA169071278 | KCNH2 | n.4085G>T c.3252G>T (p.Pro1084=) c.2232G>T (p.Pro744=) c.2952G>T (p.Pro984=) c.3102G>T (p.Pro1034=) c.3075G>T (p.Pro1025=) | dbSNP |
7 | g.150946955C= | CA1752427571 | KCNH2 | n.4085G= c.3252G= (p.Pro1084=) c.2232G= (p.Pro744=) c.2952G= (p.Pro984=) c.3102G= (p.Pro1034=) c.3075G= (p.Pro1025=) | |
7 | g.150946955C>G | CA458644705 | KCNH2 | n.4085G>C c.3252G>C (p.Pro1084=) c.2232G>C (p.Pro744=) c.2952G>C (p.Pro984=) c.3102G>C (p.Pro1034=) c.3075G>C (p.Pro1025=) | |
7 | g.150946955C>T | CA038138 | KCNH2 | n.4085G>A c.3252G>A (p.Pro1084=) c.2232G>A (p.Pro744=) c.2952G>A (p.Pro984=) c.3102G>A (p.Pro1034=) c.3075G>A (p.Pro1025=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946956G>A | CA038119 | KCNH2 | n.4084C>T c.3251C>T (p.Pro1084Leu) c.2231C>T (p.Pro744Leu) c.2951C>T (p.Pro984Leu) c.3101C>T (p.Pro1034Leu) c.3074C>T (p.Pro1025Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150946956G>C | CA038100 | KCNH2 | n.4084C>G c.3251C>G (p.Pro1084Arg) c.2231C>G (p.Pro744Arg) c.2951C>G (p.Pro984Arg) c.3101C>G (p.Pro1034Arg) c.3074C>G (p.Pro1025Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150946956G= | CA1752427578 | KCNH2 | n.4084C= c.3251C= (p.Pro1084=) c.2231C= (p.Pro744=) c.2951C= (p.Pro984=) c.3101C= (p.Pro1034=) c.3074C= (p.Pro1025=) | |
7 | g.150946956G>T | CA369852104 | KCNH2 | n.4084C>A c.3251C>A (p.Pro1084Gln) c.2231C>A (p.Pro744Gln) c.2951C>A (p.Pro984Gln) c.3101C>A (p.Pro1034Gln) c.3074C>A (p.Pro1025Gln) | |
7 | g.150946959dup | CA305339 | KCNH2 | n.4084dup c.3251dup (p.Pro1086AlafsTer?) c.2231dup (p.Pro746AlafsTer?) c.2951dup (p.Pro986AlafsTer?) c.3101dup (p.Pro1036AlafsTer?) c.3074dup (p.Pro1027AlafsTer?) | ClinVar dbSNP |
7 | g.150946959del | CA2685600756 | KCNH2 | n.4084del c.3251del (p.Pro1084ArgfsTer?) c.2231del (p.Pro744ArgfsTer?) c.2951del (p.Pro984ArgfsTer?) c.3101del (p.Pro1034ArgfsTer?) c.3074del (p.Pro1025ArgfsTer?) | gnomAD v4 |
7 | g.150946956_150946962dup | CA2580077686 | KCNH2 | n.4078_4084dup c.3245_3251dup (p.Gly1085HisfsTer?) c.2225_2231dup (p.Gly745HisfsTer?) c.2945_2951dup (p.Gly985HisfsTer?) c.3095_3101dup (p.Gly1035HisfsTer?) c.3068_3074dup (p.Gly1026HisfsTer?) | ClinVar |
7 | g.150946957G>A | CA369852107 | KCNH2 | n.4083C>T c.3250C>T (p.Pro1084Ser) c.2230C>T (p.Pro744Ser) c.2950C>T (p.Pro984Ser) c.3100C>T (p.Pro1034Ser) c.3073C>T (p.Pro1025Ser) | |
7 | g.150946957G>C | CA369852105 | KCNH2 | n.4083C>G c.3250C>G (p.Pro1084Ala) c.2230C>G (p.Pro744Ala) c.2950C>G (p.Pro984Ala) c.3100C>G (p.Pro1034Ala) c.3073C>G (p.Pro1025Ala) | |
7 | g.150946957G>T | CA369852106 | KCNH2 | n.4083C>A c.3250C>A (p.Pro1084Thr) c.2230C>A (p.Pro744Thr) c.2950C>A (p.Pro984Thr) c.3100C>A (p.Pro1034Thr) c.3073C>A (p.Pro1025Thr) | COSMIC COSMIC |